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	104951237	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.421 others(4): Show c.4214C>T	p.Ala others(7): Show p.Ala1405Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4351/18335	4214/17388	1405/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951240	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.421 others(4): Show c.4211G>A	p.Gly others(7): Show p.Gly1404Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4348/18335	4211/17388	1404/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951244	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01168.hp2 HG02735.hp2 others(2): Show HG01099.hp1 HG01168.hp2 HG02735.hp2 HG03834.hp1 HG04228.hp1	a0016 a0059 a0060 a0016 a0059 a0060	a0016c0041 a0016c0160 a0059c0161 others(1): Show a0016c0041 a0016c0160 a0059c0161 a0060c0162	a0016c0041t0006 a0016c0160t0006 a0059c0161t0013 others(1): Show a0016c0041t0006 a0016c0160t0006 a0059c0161t0013 a0060c0162t0006	a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 others(2): Show a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0059c0161t0013g0128 a0060c0162t0006g0035	5	356	0.0140	c.420 others(4): Show c.4207G>A	p.Glu others(7): Show p.Glu1403Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4344/18335	4207/17388	1403/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951252	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.419 others(4): Show c.4199C>A	p.Pro others(7): Show p.Pro1400His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4336/18335	4199/17388	1400/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951261	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(6): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114 a0133	a0061c0166 a0069c0184 a0074c0179 others(6): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225 a0133c0097	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(6): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(6): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.419 others(4): Show c.4190C>T	p.Pro others(7): Show p.Pro1397Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4327/18335	4190/17388	1397/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951271	C C	T T	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0135 a0135	a0135c0076 a0135c0076	a0135c0076t0001 a0135c0076t0001	a0135c0076t0001g0213 a0135c0076t0001g0213	1	356	0.0028	c.418 others(4): Show c.4180G>A	p.Val others(7): Show p.Val1394Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4317/18335	4180/17388	1394/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951277	A A	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(6): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114 a0133	a0061c0166 a0069c0184 a0074c0179 others(6): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225 a0133c0097	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(6): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(6): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.417 others(4): Show c.4174T>G	p.Leu others(7): Show p.Leu1392Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4311/18335	4174/17388	1392/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951287	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.416 others(4): Show c.4164G>C	p.Gln others(7): Show p.Gln1388His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4301/18335	4164/17388	1388/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951292	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(6): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114 a0133	a0061c0166 a0069c0184 a0074c0179 others(6): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225 a0133c0097	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(6): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(6): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.415 others(4): Show c.4159C>G	p.Leu others(7): Show p.Leu1387Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4296/18335	4159/17388	1387/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951295	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.415 others(4): Show c.4156G>A	p.Glu others(7): Show p.Glu1386Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4293/18335	4156/17388	1386/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951298	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.415 others(4): Show c.4153C>G	p.Leu others(7): Show p.Leu1385Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4290/18335	4153/17388	1385/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951304	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01192.hp2 HG01884.hp1 others(7): Show HG01167.hp2 HG01192.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(7): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114 a0133 a0134	a0061c0166 a0069c0184 a0074c0179 others(7): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225 a0133c0097 a0134c0096	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(7): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001 a0134c0096t0001	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(7): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116 a0134c0096t0001g0218	10	356	0.0281	c.414 others(4): Show c.4147A>G	p.Thr others(7): Show p.Thr1383Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4284/18335	4147/17388	1383/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951309	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.414 others(4): Show c.4142C>T	p.Pro others(7): Show p.Pro1381Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4279/18335	4142/17388	1381/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951367	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG02723.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(6): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114 a0204	a0061c0166 a0069c0184 a0074c0179 others(6): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225 a0204c0053	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(6): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002 a0204c0053t0001	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(6): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234 a0204c0053t0001g0065	9	356	0.0253	c.408 others(4): Show c.4084A>G	p.Met others(7): Show p.Met1362Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4221/18335	4084/17388	1362/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951391	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.406 others(4): Show c.4060T>C	p.Ser others(7): Show p.Ser1354Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4197/18335	4060/17388	1354/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951394	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 HG06807.hp1 NA20129.hp1 NA20129.hp2	a0061 a0063 a0069 others(6): Show a0061 a0063 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0063c0168 a0069c0184 others(6): Show a0061c0166 a0063c0168 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0063c0168t0001 a0069c0184t0002 others(6): Show a0061c0166t0002 a0063c0168t0001 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0063c0168t0001g0248 a0069c0184t0002g0209 others(6): Show a0061c0166t0002g0293 a0063c0168t0001g0248 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	9	356	0.0253	c.405 others(4): Show c.4057C>G	p.Leu others(7): Show p.Leu1353Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4194/18335	4057/17388	1353/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951400	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0070 a0070	a0070c0170 a0070c0170	a0070c0170t0002 a0070c0170t0002	a0070c0170t0002g0246 a0070c0170t0002g0246	1	356	0.0028	c.405 others(4): Show c.4051G>A	p.Val others(7): Show p.Val1351Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4188/18335	4051/17388	1351/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951429	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(89): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA20300.hp2	a0004 a0006 a0009 others(57): Show a0004 a0006 a0009 a0010 a0016 a0017 a0019 a0026 a0027 a0028 a0032 a0034 a0053 a0056 a0057 a0058 a0059 a0060 a0062 a0063 a0067 a0070 a0071 a0072 a0073 a0077 a0078 a0079 a0082 a0083 a0084 a0085 a0087 a0088 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0102 a0103 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0195 a0196 a0203 a0204 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(64): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0016c0041 a0016c0160 a0017c0015 a0019c0016 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0032c0050 a0034c0048 a0053c0246 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0062c0167 a0063c0168 a0067c0058 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0077c0182 a0078c0175 a0079c0183 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0087c0187 a0088c0198 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0195c0243 a0196c0207 a0203c0210 a0204c0053 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(64): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0019c0016t0005 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0032c0050t0003 a0034c0048t0003 a0053c0246t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0062c0167t0002 a0063c0168t0001 a0067c0058t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0087c0187t0002 a0088c0198t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0204c0053t0001 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(80): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0053c0246t0002g0074 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0062c0167t0002g0230 a0063c0168t0001g0248 a0067c0058t0002g0302 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0087c0187t0002g0208 a0088c0198t0002g0175 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0204c0053t0001g0065 a0207c0206t0002g0223 a0211c0247t0002g0206	92	356	0.2584	c.402 others(4): Show c.4022C>T	p.Ser others(7): Show p.Ser1341Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4159/18335	4022/17388	1341/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951432	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02717.hp2 NA20129.hp2 HG01884.hp1 HG02717.hp2 NA20129.hp2	a0061 a0074 a0075 a0061 a0074 a0075	a0061c0166 a0074c0179 a0075c0164 a0061c0166 a0074c0179 a0075c0164	a0061c0166t0002 a0074c0179t0003 a0075c0164t0001 a0061c0166t0002 a0074c0179t0003 a0075c0164t0001	a0061c0166t0002g0293 a0074c0179t0003g0297 a0075c0164t0001g0301 a0061c0166t0002g0293 a0074c0179t0003g0297 a0075c0164t0001g0301	3	356	0.0084	c.401 others(4): Show c.4019T>C	p.Val others(7): Show p.Val1340Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4156/18335	4019/17388	1340/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951436	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0076 a0076	a0076c0163 a0076c0163	a0076c0163t0001 a0076c0163t0001	a0076c0163t0001g0300 a0076c0163t0001g0300	1	356	0.0028	c.401 others(4): Show c.4015G>A	p.Gly others(7): Show p.Gly1339Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4152/18335	4015/17388	1339/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951444	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0069 a0069	a0069c0184 a0069c0184	a0069c0184t0002 a0069c0184t0002	a0069c0184t0002g0209 a0069c0184t0002g0209	1	356	0.0028	c.400 others(4): Show c.4007C>T	p.Pro others(7): Show p.Pro1336Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4144/18335	4007/17388	1336/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951471	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.398 others(4): Show c.3980A>G	p.Lys others(7): Show p.Lys1327Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4117/18335	3980/17388	1327/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951518	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.393 others(4): Show c.3933C>G	p.Asp others(7): Show p.Asp1311Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4070/18335	3933/17388	1311/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951525	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.392 others(4): Show c.3926A>G	p.Gln others(7): Show p.Gln1309Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4063/18335	3926/17388	1309/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951528	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.392 others(4): Show c.3923C>T	p.Ala others(7): Show p.Ala1308Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4060/18335	3923/17388	1308/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951532	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.391 others(4): Show c.3919G>A	p.Gly others(7): Show p.Gly1307Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4056/18335	3919/17388	1307/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951556	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.389 others(4): Show c.3895C>G	p.Gln others(7): Show p.Gln1299Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4032/18335	3895/17388	1299/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951557	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(204): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0004 a0005 a0006 others(137): Show a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0016 a0017 a0019 a0026 a0027 a0028 a0032 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0053 a0054 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0067 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0114 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0133 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0149 a0150 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0158 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0199 a0201 a0203 a0204 a0206 a0207 a0208 a0209 a0210 a0211	a0004c0005 a0004c0157 a0004c0158 others(151): Show a0004c0005 a0004c0157 a0004c0158 a0005c0013 a0005c0025 a0005c0027 a0005c0067 a0005c0091 a0006c0006 a0006c0200 a0007c0004 a0007c0104 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0012c0036 a0012c0039 a0013c0010 a0014c0009 a0016c0041 a0016c0160 a0017c0015 a0019c0016 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0032c0050 a0034c0048 a0035c0023 a0036c0030 a0037c0029 a0038c0037 a0039c0028 a0040c0038 a0041c0083 a0041c0099 a0042c0026 a0043c0040 a0044c0049 a0045c0024 a0053c0246 a0054c0059 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0067c0058 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0099c0061 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0114c0225 a0124c0071 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0129c0133 a0130c0075 a0131c0235 a0132c0236 a0133c0097 a0134c0096 a0135c0076 a0136c0140 a0137c0094 a0138c0095 a0139c0142 a0140c0093 a0141c0092 a0142c0085 a0143c0087 a0144c0238 a0145c0089 a0146c0090 a0147c0088 a0148c0081 a0149c0086 a0150c0082 a0151c0145 a0152c0146 a0153c0147 a0154c0148 a0155c0084 a0156c0144 a0157c0080 a0158c0143 a0159c0141 a0160c0078 a0161c0079 a0162c0077 a0163c0098 a0164c0139 a0165c0100 a0166c0103 a0167c0101 a0168c0102 a0169c0237 a0188c0074 a0189c0073 a0190c0151 a0191c0150 a0192c0137 a0193c0138 a0194c0136 a0195c0243 a0196c0207 a0197c0057 a0199c0069 a0201c0154 a0203c0210 a0204c0053 a0206c0066 a0207c0206 a0208c0056 a0209c0054 a0210c0055 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(152): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0005c0013t0001 a0005c0025t0001 a0005c0027t0001 a0005c0067t0001 a0005c0091t0001 a0006c0006t0002 a0006c0200t0002 a0007c0004t0001 a0007c0104t0001 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 a0014c0009t0001 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0019c0016t0005 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0036c0030t0001 a0037c0029t0001 a0038c0037t0001 a0039c0028t0001 a0039c0028t0014 a0040c0038t0001 a0041c0083t0001 a0041c0099t0001 a0042c0026t0001 a0043c0040t0001 a0044c0049t0003 a0045c0024t0001 a0053c0246t0002 a0054c0059t0001 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0067c0058t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0099c0061t0001 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0114c0225t0002 a0124c0071t0001 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0129c0133t0001 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0133c0097t0001 a0134c0096t0001 a0135c0076t0001 a0136c0140t0001 a0137c0094t0001 a0138c0095t0001 a0139c0142t0001 a0140c0093t0001 a0141c0092t0001 a0142c0085t0001 a0143c0087t0001 a0144c0238t0003 a0145c0089t0001 a0146c0090t0001 a0147c0088t0001 a0148c0081t0001 a0149c0086t0002 a0150c0082t0001 a0151c0145t0001 a0152c0146t0001 a0153c0147t0001 a0154c0148t0001 a0155c0084t0001 a0156c0144t0001 a0157c0080t0003 a0158c0143t0001 a0159c0141t0001 a0160c0078t0001 a0161c0079t0012 a0162c0077t0001 a0163c0098t0001 a0164c0139t0001 a0165c0100t0001 a0166c0103t0001 a0167c0101t0001 a0168c0102t0001 a0169c0237t0003 a0188c0074t0001 a0189c0073t0001 a0190c0151t0001 a0191c0150t0001 a0192c0137t0001 a0193c0138t0001 a0194c0136t0001 a0195c0243t0003 a0196c0207t0002 a0197c0057t0001 a0199c0069t0001 a0201c0154t0001 a0203c0210t0003 a0204c0053t0001 a0206c0066t0001 a0207c0206t0002 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(185): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0005c0013t0001g0083 a0005c0013t0001g0095 a0005c0013t0001g0202 a0005c0025t0001g0015 a0005c0027t0001g0266 a0005c0027t0001g0282 a0005c0067t0001g0129 a0005c0091t0001g0150 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0007c0004t0001g0237 a0007c0004t0001g0238 a0007c0004t0001g0242 a0007c0004t0001g0243 a0007c0004t0001g0244 a0007c0004t0001g0245 a0007c0004t0001g0284 a0007c0104t0001g0239 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0013c0010t0001g0004 a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0036c0030t0001g0018 a0037c0029t0001g0079 a0037c0029t0001g0294 a0038c0037t0001g0027 a0039c0028t0001g0214 a0039c0028t0014g0215 a0040c0038t0001g0174 a0040c0038t0001g0189 a0041c0083t0001g0216 a0041c0099t0001g0217 a0042c0026t0001g0021 a0043c0040t0001g0172 a0043c0040t0001g0191 a0044c0049t0003g0131 a0044c0049t0003g0133 a0045c0024t0001g0142 a0045c0024t0001g0143 a0053c0246t0002g0074 a0054c0059t0001g0119 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0067c0058t0002g0302 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0099c0061t0001g0091 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0114c0225t0002g0234 a0124c0071t0001g0123 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0129c0133t0001g0052 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0133c0097t0001g0116 a0134c0096t0001g0218 a0135c0076t0001g0213 a0136c0140t0001g0186 a0137c0094t0001g0111 a0138c0095t0001g0112 a0139c0142t0001g0127 a0140c0093t0001g0210 a0141c0092t0001g0096 a0142c0085t0001g0212 a0143c0087t0001g0085 a0144c0238t0003g0070 a0145c0089t0001g0080 a0146c0090t0001g0113 a0147c0088t0001g0082 a0148c0081t0001g0283 a0149c0086t0002g0081 a0150c0082t0001g0088 a0151c0145t0001g0165 a0152c0146t0001g0187 a0153c0147t0001g0188 a0154c0148t0001g0265 a0155c0084t0001g0211 a0156c0144t0001g0158 a0157c0080t0003g0121 a0158c0143t0001g0169 a0159c0141t0001g0108 a0160c0078t0001g0117 a0161c0079t0012g0141 a0162c0077t0001g0094 a0163c0098t0001g0122 a0164c0139t0001g0185 a0165c0100t0001g0240 a0166c0103t0001g0241 a0167c0101t0001g0235 a0168c0102t0001g0236 a0169c0237t0003g0139 a0188c0074t0001g0092 a0189c0073t0001g0087 a0190c0151t0001g0168 a0191c0150t0001g0090 a0192c0137t0001g0078 a0193c0138t0001g0075 a0194c0136t0001g0107 a0195c0243t0003g0148 a0196c0207t0002g0153 a0197c0057t0001g0068 a0199c0069t0001g0226 a0201c0154t0001g0110 a0203c0210t0003g0149 a0204c0053t0001g0065 a0206c0066t0001g0183 a0207c0206t0002g0223 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114 a0211c0247t0002g0206	207	356	0.5815	c.389 others(4): Show c.3894G>C	p.Met others(7): Show p.Met1298Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4031/18335	3894/17388	1298/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951559	T T	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.389 others(4): Show c.3892A>G	p.Met others(7): Show p.Met1298Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4029/18335	3892/17388	1298/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951588	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.386 others(4): Show c.3863C>A	p.Ala others(7): Show p.Ala1288Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4000/18335	3863/17388	1288/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951593	T T	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.385 others(4): Show c.3858A>T	p.Glu others(7): Show p.Glu1286Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3995/18335	3858/17388	1286/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951593	T T	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.385 others(4): Show c.3858A>C	p.Glu others(7): Show p.Glu1286Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3995/18335	3858/17388	1286/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951597	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.385 others(4): Show c.3854A>C	p.His others(7): Show p.His1285Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3991/18335	3854/17388	1285/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951603	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.384 others(4): Show c.3848C>T	p.Thr others(7): Show p.Thr1283Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3985/18335	3848/17388	1283/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951618	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(5): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089 a0114	a0061c0166 a0069c0184 a0074c0179 others(5): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196 a0114c0225	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(5): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0114c0225t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(5): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0114c0225t0002g0234	8	356	0.0225	c.383 others(4): Show c.3833A>C	p.His others(7): Show p.His1278Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3970/18335	3833/17388	1278/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951622	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(10): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(8): Show a0020 a0061 a0064 a0066 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0020c0018 a0061c0166 a0064c0165 others(8): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(8): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(8): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	13	356	0.0365	c.382 others(4): Show c.3829G>A	p.Gly others(7): Show p.Gly1277Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3966/18335	3829/17388	1277/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951645	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(11): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(9): Show a0020 a0061 a0064 a0066 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0114	a0020c0018 a0061c0166 a0064c0165 others(9): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(9): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(9): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234	14	356	0.0393	c.380 others(4): Show c.3806G>A	p.Arg others(7): Show p.Arg1269Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3943/18335	3806/17388	1269/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951650	T T	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(11): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(9): Show a0020 a0061 a0064 a0066 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0114	a0020c0018 a0061c0166 a0064c0165 others(9): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(9): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(9): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234	14	356	0.0393	c.380 others(4): Show c.3801A>C	p.Glu others(7): Show p.Glu1267Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3938/18335	3801/17388	1267/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951655	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.379 others(4): Show c.3796G>A	p.Val others(7): Show p.Val1266Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3933/18335	3796/17388	1266/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951670	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(14): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0061 others(10): Show a0018 a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0061c0166 others(10): Show a0018c0017 a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0061c0166t0002 others(10): Show a0018c0017t0005 a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0061c0166t0002g0293 others(10): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	17	356	0.0478	c.378 others(4): Show c.3781C>A	p.Leu others(7): Show p.Leu1261Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3918/18335	3781/17388	1261/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951672	T T	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.377 others(4): Show c.3779A>C	p.Asp others(7): Show p.Asp1260Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3916/18335	3779/17388	1260/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951689	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(14): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0061 others(10): Show a0018 a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0061c0166 others(10): Show a0018c0017 a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0061c0166t0002 others(10): Show a0018c0017t0005 a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0061c0166t0002g0293 others(10): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	17	356	0.0478	c.376 others(4): Show c.3762G>C	p.Leu others(7): Show p.Leu1254Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3899/18335	3762/17388	1254/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951727	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(14): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0061 others(10): Show a0018 a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0061c0166 others(10): Show a0018c0017 a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0061c0166t0002 others(10): Show a0018c0017t0005 a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0061c0166t0002g0293 others(10): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	17	356	0.0478	c.372 others(4): Show c.3724T>C	p.Phe others(7): Show p.Phe1242Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3861/18335	3724/17388	1242/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951730	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0188 a0189 a0188 a0189	a0188c0074 a0189c0073 a0188c0074 a0189c0073	a0188c0074t0001 a0189c0073t0001 a0188c0074t0001 a0189c0073t0001	a0188c0074t0001g0092 a0189c0073t0001g0087 a0188c0074t0001g0092 a0189c0073t0001g0087	2	356	0.0056	c.372 others(4): Show c.3721G>A	p.Gly others(7): Show p.Gly1241Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3858/18335	3721/17388	1241/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951747	T T	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.370 others(4): Show c.3704A>C	p.His others(7): Show p.His1235Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3841/18335	3704/17388	1235/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951782	G G	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(17): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(12): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0114	a0018c0017 a0020c0018 a0028c0019 others(12): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(12): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(13): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234	20	356	0.0562	c.366 others(4): Show c.3669C>G	p.His others(7): Show p.His1223Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3806/18335	3669/17388	1223/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951790	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.366 others(4): Show c.3661G>A	p.Glu others(7): Show p.Glu1221Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3798/18335	3661/17388	1221/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951799	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.365 others(4): Show c.3652G>A	p.Ala others(7): Show p.Ala1218Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3789/18335	3652/17388	1218/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951829	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01517.hp1 others(19): Show HG00609.hp1 HG01167.hp2 HG01517.hp1 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(14): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0088 a0089 a0114 a0129	a0018c0017 a0020c0018 a0028c0019 others(14): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0088c0198 a0089c0196 a0114c0225 a0129c0133	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(14): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0088c0198t0002 a0089c0196t0002 a0114c0225t0002 a0129c0133t0001	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(15): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0088c0198t0002g0175 a0089c0196t0002g0198 a0114c0225t0002g0234 a0129c0133t0001g0052	22	356	0.0618	c.362 others(4): Show c.3622A>G	p.Thr others(7): Show p.Thr1208Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3759/18335	3622/17388	1208/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951845	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.360 others(4): Show c.3606G>A	p.Met others(7): Show p.Met1202Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3743/18335	3606/17388	1202/5795	chr14	TogoVar

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