Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	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
AHNAK2_chr14_104932253_104983374	104946582	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.886 others(4): Show c.8869G>A	p.Gly others(7): Show p.Gly2957Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9006/18335	8869/17388	2957/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946597	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.885 others(4): Show c.8854A>G	p.Arg others(7): Show p.Arg2952Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8991/18335	8854/17388	2952/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946606	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.884 others(4): Show c.8845G>C	p.Glu others(7): Show p.Glu2949Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8982/18335	8845/17388	2949/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946621	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.883 others(4): Show c.8830G>A	p.Val others(7): Show p.Val2944Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8967/18335	8830/17388	2944/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946624	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.882 others(4): Show c.8827A>G	p.Ser others(7): Show p.Ser2943Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8964/18335	8827/17388	2943/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946629	A A	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.882 others(4): Show c.8822T>A	p.Leu others(7): Show p.Leu2941Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8959/18335	8822/17388	2941/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946650	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.880 others(4): Show c.8801C>T	p.Ala others(7): Show p.Ala2934Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8938/18335	8801/17388	2934/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946658	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.879 others(4): Show c.8793G>C	p.Glu others(7): Show p.Glu2931Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8930/18335	8793/17388	2931/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946663	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.878 others(4): Show c.8788G>A	p.Ala others(7): Show p.Ala2930Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8925/18335	8788/17388	2930/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946669	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.878 others(4): Show c.8782C>T	p.Pro others(7): Show p.Pro2928Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8919/18335	8782/17388	2928/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946671	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.878 others(4): Show c.8780G>T	p.Gly others(7): Show p.Gly2927Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8917/18335	8780/17388	2927/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946699	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.875 others(4): Show c.8752G>A	p.Val others(7): Show p.Val2918Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8889/18335	8752/17388	2918/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946703	T T	C C	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02896.hp1 HG02897.hp2 HG02273.hp2 HG02896.hp1 HG02897.hp2	a0028 a0170 a0028 a0170	a0028c0019 a0170c0105 a0028c0019 a0170c0105	a0028c0019t0009 a0170c0105t0002 a0028c0019t0009 a0170c0105t0002	a0028c0019t0009g0049 a0028c0019t0009g0050 a0170c0105t0002g0076 a0028c0019t0009g0049 a0028c0019t0009g0050 a0170c0105t0002g0076	3	356	0.0084	c.874 others(4): Show c.8748A>G	p.Ile others(7): Show p.Ile2916Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8885/18335	8748/17388	2916/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946705	T T	C C	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02896.hp1 HG02897.hp2 HG02273.hp2 HG02896.hp1 HG02897.hp2	a0028 a0170 a0028 a0170	a0028c0019 a0170c0105 a0028c0019 a0170c0105	a0028c0019t0009 a0170c0105t0002 a0028c0019t0009 a0170c0105t0002	a0028c0019t0009g0049 a0028c0019t0009g0050 a0170c0105t0002g0076 a0028c0019t0009g0049 a0028c0019t0009g0050 a0170c0105t0002g0076	3	356	0.0084	c.874 others(4): Show c.8746A>G	p.Ile others(7): Show p.Ile2916Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8883/18335	8746/17388	2916/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946719	A A	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.873 others(4): Show c.8732T>G	p.Leu others(7): Show p.Leu2911Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8869/18335	8732/17388	2911/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946731	G G	C C	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0130 a0196 a0130 a0196	a0130c0075 a0196c0207 a0130c0075 a0196c0207	a0130c0075t0002 a0196c0207t0002 a0130c0075t0002 a0196c0207t0002	a0130c0075t0002g0093 a0196c0207t0002g0153 a0130c0075t0002g0093 a0196c0207t0002g0153	2	356	0.0056	c.872 others(4): Show c.8720C>G	p.Pro others(7): Show p.Pro2907Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8857/18335	8720/17388	2907/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946739	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.871 others(4): Show c.8712C>G	p.Phe others(7): Show p.Phe2904Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8849/18335	8712/17388	2904/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946753	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.869 others(4): Show c.8698C>G	p.Gln others(7): Show p.Gln2900Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8835/18335	8698/17388	2900/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946756	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.869 others(4): Show c.8695G>T	p.Val others(7): Show p.Val2899Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8832/18335	8695/17388	2899/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946770	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.868 others(4): Show c.8681G>A	p.Gly others(7): Show p.Gly2894Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8818/18335	8681/17388	2894/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946796	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.865 others(4): Show c.8655C>G	p.His others(7): Show p.His2885Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8792/18335	8655/17388	2885/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946816	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.863 others(4): Show c.8635G>C	p.Val others(7): Show p.Val2879Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8772/18335	8635/17388	2879/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946822	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.862 others(4): Show c.8629G>A	p.Val others(7): Show p.Val2877Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8766/18335	8629/17388	2877/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946840	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.861 others(4): Show c.8611G>A	p.Glu others(7): Show p.Glu2871Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8748/18335	8611/17388	2871/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946844	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.860 others(4): Show c.8607A>C	p.Gln others(7): Show p.Gln2869His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8744/18335	8607/17388	2869/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946846	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.860 others(4): Show c.8605C>G	p.Gln others(7): Show p.Gln2869Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8742/18335	8605/17388	2869/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946861	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.859 others(4): Show c.8590C>G	p.Gln others(7): Show p.Gln2864Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8727/18335	8590/17388	2864/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946867	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(187): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(113): Show a0001 a0004 a0006 a0009 a0010 a0011 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0036 a0046 a0052 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0102 a0103 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0133 a0149 a0157 a0170 a0173 a0179 a0182 a0183 a0191 a0195 a0196 a0197 a0203 a0204 a0205 a0207 a0211	a0001c0001 a0001c0003 a0001c0045 others(129): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0011c0012 a0015c0035 a0015c0122 a0015c0125 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0028c0019 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0035c0023 a0036c0030 a0046c0032 a0052c0208 a0052c0209 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0064c0165 a0065c0203 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0133c0097 a0149c0086 a0157c0080 a0170c0105 a0173c0114 a0179c0121 a0182c0128 a0183c0130 a0191c0150 a0195c0243 a0196c0207 a0197c0057 a0203c0210 a0204c0053 a0205c0245 a0207c0206 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(129): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0011c0012t0002 a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0028c0019t0009 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0036c0030t0001 a0046c0032t0002 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0064c0165t0001 a0065c0203t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0133c0097t0001 a0149c0086t0002 a0157c0080t0003 a0170c0105t0002 a0173c0114t0002 a0179c0121t0002 a0182c0128t0002 a0183c0130t0002 a0191c0150t0001 a0195c0243t0003 a0196c0207t0002 a0197c0057t0001 a0203c0210t0003 a0204c0053t0001 a0205c0245t0002 a0207c0206t0002 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(154): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0011c0012t0002g0006 a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0028c0019t0009g0049 a0028c0019t0009g0050 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0036c0030t0001g0018 a0046c0032t0002g0019 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0064c0165t0001g0247 a0065c0203t0002g0201 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0133c0097t0001g0116 a0149c0086t0002g0081 a0157c0080t0003g0121 a0170c0105t0002g0076 a0173c0114t0002g0288 a0179c0121t0002g0101 a0182c0128t0002g0269 a0183c0130t0002g0105 a0191c0150t0001g0090 a0195c0243t0003g0148 a0196c0207t0002g0153 a0197c0057t0001g0068 a0203c0210t0003g0149 a0204c0053t0001g0065 a0205c0245t0002g0067 a0207c0206t0002g0223 a0211c0247t0002g0206	190	356	0.5337	c.858 others(4): Show c.8584C>A	p.Arg others(7): Show p.Arg2862Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8721/18335	8584/17388	2862/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946870	T T	G G	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02132.hp1 HG02896.hp1 others(1): Show HG02027.hp2 HG02132.hp1 HG02896.hp1 HG02897.hp2	a0027 a0028 a0027 a0028	a0027c0189 a0027c0190 a0028c0019 a0027c0189 a0027c0190 a0028c0019	a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009	a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 others(1): Show a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050	4	356	0.0112	c.858 others(4): Show c.8581A>C	p.Ile others(7): Show p.Ile2861Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8718/18335	8581/17388	2861/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946906	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02896.hp1 others(4): Show HG01167.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1	a0028 a0064 a0069 others(3): Show a0028 a0064 a0069 a0080 a0081 a0133	a0028c0019 a0064c0165 a0069c0184 others(3): Show a0028c0019 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0069c0184t0002 others(3): Show a0028c0019t0009 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(4): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	7	356	0.0197	c.854 others(4): Show c.8545T>C	p.Phe others(7): Show p.Phe2849Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8682/18335	8545/17388	2849/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946908	C C	T T	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19005.hp1	a0095 a0095	a0095c0197 a0095c0197	a0095c0197t0005 a0095c0197t0005	a0095c0197t0005g0178 a0095c0197t0005g0178	1	356	0.0028	c.854 others(4): Show c.8543G>A	p.Ser others(7): Show p.Ser2848Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8680/18335	8543/17388	2848/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946911	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02896.hp1 others(5): Show HG01167.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 NA20129.hp1	a0028 a0064 a0069 others(4): Show a0028 a0064 a0069 a0070 a0080 a0081 a0133	a0028c0019 a0064c0165 a0069c0184 others(4): Show a0028c0019 a0064c0165 a0069c0184 a0070c0170 a0080c0180 a0081c0173 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0069c0184t0002 others(4): Show a0028c0019t0009 a0064c0165t0001 a0069c0184t0002 a0070c0170t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(5): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0069c0184t0002g0209 a0070c0170t0002g0246 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	8	356	0.0225	c.854 others(4): Show c.8540G>T	p.Gly others(7): Show p.Gly2847Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8677/18335	8540/17388	2847/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946912	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 HG03209.hp1 others(1): Show HG01167.hp2 HG03195.hp2 HG03209.hp1 NA20129.hp1	a0069 a0070 a0080 others(1): Show a0069 a0070 a0080 a0081	a0069c0184 a0070c0170 a0080c0180 others(1): Show a0069c0184 a0070c0170 a0080c0180 a0081c0173	a0069c0184t0002 a0070c0170t0002 a0080c0180t0002 others(1): Show a0069c0184t0002 a0070c0170t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0070c0170t0002g0246 a0080c0180t0002g0181 others(1): Show a0069c0184t0002g0209 a0070c0170t0002g0246 a0080c0180t0002g0181 a0081c0173t0002g0180	4	356	0.0112	c.853 others(4): Show c.8539G>A	p.Gly others(7): Show p.Gly2847Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8676/18335	8539/17388	2847/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946913	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.853 others(4): Show c.8538C>A	p.Asp others(7): Show p.Asp2846Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8675/18335	8538/17388	2846/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946929	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.852 others(4): Show c.8522T>C	p.Leu others(7): Show p.Leu2841Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8659/18335	8522/17388	2841/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946932	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.851 others(4): Show c.8519A>C	p.Glu others(7): Show p.Glu2840Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8656/18335	8519/17388	2840/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946950	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.850 others(4): Show c.8501C>T	p.Ala others(7): Show p.Ala2834Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8638/18335	8501/17388	2834/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946953	T T	G G	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0137 a0138 a0137 a0138	a0137c0094 a0138c0095 a0137c0094 a0138c0095	a0137c0094t0001 a0138c0095t0001 a0137c0094t0001 a0138c0095t0001	a0137c0094t0001g0111 a0138c0095t0001g0112 a0137c0094t0001g0111 a0138c0095t0001g0112	2	356	0.0056	c.849 others(4): Show c.8498A>C	p.Glu others(7): Show p.Glu2833Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8635/18335	8498/17388	2833/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946955	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.849 others(4): Show c.8496C>G	p.Ile others(7): Show p.Ile2832Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8633/18335	8496/17388	2832/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946963	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02965.hp2 HG03453.hp1 HG02809.hp2 HG02965.hp2 HG03453.hp1	a0062 a0098 a0150 a0062 a0098 a0150	a0062c0167 a0098c0204 a0150c0082 a0062c0167 a0098c0204 a0150c0082	a0062c0167t0002 a0098c0204t0002 a0150c0082t0001 a0062c0167t0002 a0098c0204t0002 a0150c0082t0001	a0062c0167t0002g0230 a0098c0204t0002g0292 a0150c0082t0001g0088 a0062c0167t0002g0230 a0098c0204t0002g0292 a0150c0082t0001g0088	3	356	0.0084	c.848 others(4): Show c.8488A>G	p.Lys others(7): Show p.Lys2830Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8625/18335	8488/17388	2830/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946965	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.848 others(4): Show c.8486G>A	p.Gly others(7): Show p.Gly2829Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8623/18335	8486/17388	2829/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946981	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG02896.hp1 others(7): Show HG01167.hp1 HG01169.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp2 HG03486.hp1	a0028 a0044 a0051 others(4): Show a0028 a0044 a0051 a0144 a0150 a0169 a0189	a0028c0019 a0044c0049 a0051c0051 others(4): Show a0028c0019 a0044c0049 a0051c0051 a0144c0238 a0150c0082 a0169c0237 a0189c0073	a0028c0019t0009 a0044c0049t0003 a0051c0051t0001 others(4): Show a0028c0019t0009 a0044c0049t0003 a0051c0051t0001 a0144c0238t0003 a0150c0082t0001 a0169c0237t0003 a0189c0073t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0044c0049t0003g0131 others(6): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0144c0238t0003g0070 a0150c0082t0001g0088 a0169c0237t0003g0139 a0189c0073t0001g0087	10	356	0.0281	c.847 others(4): Show c.8470G>A	p.Gly others(7): Show p.Gly2824Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8607/18335	8470/17388	2824/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947016	T T	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 HG02258.hp1 HG02717.hp1 others(1): Show HG01255.hp2 HG02258.hp1 HG02717.hp1 HG03041.hp2	a0026 a0073 a0085 a0026 a0073 a0085	a0026c0042 a0073c0171 a0085c0172 a0026c0042 a0073c0171 a0085c0172	a0026c0042t0002 a0073c0171t0002 a0085c0172t0002 a0026c0042t0002 a0073c0171t0002 a0085c0172t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0073c0171t0002g0140 others(1): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0073c0171t0002g0140 a0085c0172t0002g0296	4	356	0.0112	c.843 others(4): Show c.8435A>T	p.Lys others(7): Show p.Lys2812Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8572/18335	8435/17388	2812/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947035	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.841 others(4): Show c.8416A>G	p.Met others(7): Show p.Met2806Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8553/18335	8416/17388	2806/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947037	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.841 others(4): Show c.8414G>A	p.Gly others(7): Show p.Gly2805Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8551/18335	8414/17388	2805/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947073	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.837 others(4): Show c.8378C>G	p.Ala others(7): Show p.Ala2793Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8515/18335	8378/17388	2793/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947076	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.837 others(4): Show c.8375G>C	p.Gly others(7): Show p.Gly2792Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8512/18335	8375/17388	2792/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947091	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.836 others(4): Show c.8360G>A	p.Arg others(7): Show p.Arg2787Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8497/18335	8360/17388	2787/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947101	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.835 others(4): Show c.8350C>G	p.Gln others(7): Show p.Gln2784Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8487/18335	8350/17388	2784/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947116	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.833 others(4): Show c.8335A>G	p.Met others(7): Show p.Met2779Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8472/18335	8335/17388	2779/5795	chr14	TogoVar

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