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	104948576	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.687 others(4): Show c.6875G>A	p.Gly others(7): Show p.Gly2292Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7012/18335	6875/17388	2292/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948577	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.687 others(4): Show c.6874G>A	p.Gly others(7): Show p.Gly2292Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7011/18335	6874/17388	2292/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948586	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 NA18948.hp2 others(2): Show HG02630.hp2 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0133 a0018 a0064 a0133	a0018c0017 a0064c0165 a0133c0097 a0018c0017 a0064c0165 a0133c0097	a0018c0017t0005 a0064c0165t0001 a0133c0097t0001 a0018c0017t0005 a0064c0165t0001 a0133c0097t0001	a0018c0017t0005g0008 a0064c0165t0001g0247 a0133c0097t0001g0116 a0018c0017t0005g0008 a0064c0165t0001g0247 a0133c0097t0001g0116	5	356	0.0140	c.686 others(4): Show c.6865A>G	p.Lys others(7): Show p.Lys2289Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7002/18335	6865/17388	2289/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948586	T T	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.686 others(4): Show c.6865A>C	p.Lys others(7): Show p.Lys2289Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7002/18335	6865/17388	2289/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948589	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG01884.hp2 HG02717.hp2 HG02922.hp2 NA20129.hp2	a0074 a0075 a0076 others(1): Show a0074 a0075 a0076 a0197	a0074c0179 a0075c0164 a0076c0163 others(1): Show a0074c0179 a0075c0164 a0076c0163 a0197c0057	a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 others(1): Show a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0197c0057t0001	a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 others(1): Show a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0197c0057t0001g0068	4	356	0.0112	c.686 others(4): Show c.6862G>A	p.Val others(7): Show p.Val2288Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6999/18335	6862/17388	2288/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948601	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.685 others(4): Show c.6850G>A	p.Val others(7): Show p.Val2284Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6987/18335	6850/17388	2284/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948602	G G	T T	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.684 others(4): Show c.6849C>A	p.Ser others(7): Show p.Ser2283Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6986/18335	6849/17388	2283/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948609	A A	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.684 others(4): Show c.6842T>A	p.Leu others(7): Show p.Leu2281Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6979/18335	6842/17388	2281/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948633	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.681 others(4): Show c.6818C>T	p.Thr others(7): Show p.Thr2273Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6955/18335	6818/17388	2273/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948638	T T	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.681 others(4): Show c.6813A>C	p.Glu others(7): Show p.Glu2271Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6950/18335	6813/17388	2271/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948642	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0064 a0071 a0133 a0064 a0071 a0133	a0064c0165 a0071c0177 a0133c0097 a0064c0165 a0071c0177 a0133c0097	a0064c0165t0001 a0071c0177t0002 a0133c0097t0001 a0064c0165t0001 a0071c0177t0002 a0133c0097t0001	a0064c0165t0001g0247 a0071c0177t0002g0144 a0133c0097t0001g0116 a0064c0165t0001g0247 a0071c0177t0002g0144 a0133c0097t0001g0116	3	356	0.0084	c.680 others(4): Show c.6809T>C	p.Val others(7): Show p.Val2270Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6946/18335	6809/17388	2270/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948643	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.680 others(4): Show c.6808G>A	p.Val others(7): Show p.Val2270Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6945/18335	6808/17388	2270/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948651	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0064 a0071 a0133 a0064 a0071 a0133	a0064c0165 a0071c0177 a0133c0097 a0064c0165 a0071c0177 a0133c0097	a0064c0165t0001 a0071c0177t0002 a0133c0097t0001 a0064c0165t0001 a0071c0177t0002 a0133c0097t0001	a0064c0165t0001g0247 a0071c0177t0002g0144 a0133c0097t0001g0116 a0064c0165t0001g0247 a0071c0177t0002g0144 a0133c0097t0001g0116	3	356	0.0084	c.680 others(4): Show c.6800A>G	p.Asp others(7): Show p.Asp2267Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6937/18335	6800/17388	2267/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948670	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.678 others(4): Show c.6781C>G	p.Pro others(7): Show p.Pro2261Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6918/18335	6781/17388	2261/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948679	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0064 a0071 a0133 a0064 a0071 a0133	a0064c0165 a0071c0177 a0133c0097 a0064c0165 a0071c0177 a0133c0097	a0064c0165t0001 a0071c0177t0002 a0133c0097t0001 a0064c0165t0001 a0071c0177t0002 a0133c0097t0001	a0064c0165t0001g0247 a0071c0177t0002g0144 a0133c0097t0001g0116 a0064c0165t0001g0247 a0071c0177t0002g0144 a0133c0097t0001g0116	3	356	0.0084	c.677 others(4): Show c.6772A>G	p.Ile others(7): Show p.Ile2258Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6909/18335	6772/17388	2258/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948683	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.676 others(4): Show c.6768A>G	p.Ile others(7): Show p.Ile2256Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6905/18335	6768/17388	2256/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948684	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.676 others(4): Show c.6767T>C	p.Ile others(7): Show p.Ile2256Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6904/18335	6767/17388	2256/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948688	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0064 a0071 a0064 a0071	a0064c0165 a0071c0177 a0064c0165 a0071c0177	a0064c0165t0001 a0071c0177t0002 a0064c0165t0001 a0071c0177t0002	a0064c0165t0001g0247 a0071c0177t0002g0144 a0064c0165t0001g0247 a0071c0177t0002g0144	2	356	0.0056	c.676 others(4): Show c.6763G>C	p.Glu others(7): Show p.Glu2255Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6900/18335	6763/17388	2255/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948715	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0064 a0071 a0064 a0071	a0064c0165 a0071c0177 a0064c0165 a0071c0177	a0064c0165t0001 a0071c0177t0002 a0064c0165t0001 a0071c0177t0002	a0064c0165t0001g0247 a0071c0177t0002g0144 a0064c0165t0001g0247 a0071c0177t0002g0144	2	356	0.0056	c.673 others(4): Show c.6736G>A	p.Val others(7): Show p.Val2246Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6873/18335	6736/17388	2246/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948731	C C	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.672 others(4): Show c.6720G>T	p.Gln others(7): Show p.Gln2240His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6857/18335	6720/17388	2240/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948733	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.671 others(4): Show c.6718C>G	p.Gln others(7): Show p.Gln2240Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6855/18335	6718/17388	2240/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948736	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 NA19005.hp1 HG02257.hp1 NA19005.hp1	a0071 a0095 a0071 a0095	a0071c0177 a0095c0197 a0071c0177 a0095c0197	a0071c0177t0002 a0095c0197t0005 a0071c0177t0002 a0095c0197t0005	a0071c0177t0002g0144 a0095c0197t0005g0178 a0071c0177t0002g0144 a0095c0197t0005g0178	2	356	0.0056	c.671 others(4): Show c.6715C>G	p.Leu others(7): Show p.Leu2239Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6852/18335	6715/17388	2239/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948762	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(3): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19005.hp1 NA19081.hp2	a0018 a0064 a0071 others(1): Show a0018 a0064 a0071 a0095	a0018c0017 a0064c0165 a0071c0177 others(1): Show a0018c0017 a0064c0165 a0071c0177 a0095c0197	a0018c0017t0005 a0064c0165t0001 a0071c0177t0002 others(1): Show a0018c0017t0005 a0064c0165t0001 a0071c0177t0002 a0095c0197t0005	a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144 others(1): Show a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144 a0095c0197t0005g0178	6	356	0.0169	c.668 others(4): Show c.6689T>C	p.Val others(7): Show p.Val2230Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6826/18335	6689/17388	2230/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948765	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0071 a0018 a0064 a0071	a0018c0017 a0064c0165 a0071c0177 a0018c0017 a0064c0165 a0071c0177	a0018c0017t0005 a0064c0165t0001 a0071c0177t0002 a0018c0017t0005 a0064c0165t0001 a0071c0177t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144 a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144	5	356	0.0140	c.668 others(4): Show c.6686A>G	p.Glu others(7): Show p.Glu2229Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6823/18335	6686/17388	2229/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948771	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.668 others(4): Show c.6680C>T	p.Pro others(7): Show p.Pro2227Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6817/18335	6680/17388	2227/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948777	G G	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.667 others(4): Show c.6674C>A	p.Pro others(7): Show p.Pro2225His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6811/18335	6674/17388	2225/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948786	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0064 a0071 a0064 a0071	a0064c0165 a0071c0177 a0064c0165 a0071c0177	a0064c0165t0001 a0071c0177t0002 a0064c0165t0001 a0071c0177t0002	a0064c0165t0001g0247 a0071c0177t0002g0144 a0064c0165t0001g0247 a0071c0177t0002g0144	2	356	0.0056	c.666 others(4): Show c.6665T>C	p.Leu others(7): Show p.Leu2222Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6802/18335	6665/17388	2222/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948796	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.665 others(4): Show c.6655G>A	p.Val others(7): Show p.Val2219Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6792/18335	6655/17388	2219/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948802	C C	A A	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	c.664 others(4): Show c.6649G>T	p.Val others(7): Show p.Val2217Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6786/18335	6649/17388	2217/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948817	C C	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	c.663 others(4): Show c.6634G>C	p.Val others(7): Show p.Val2212Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6771/18335	6634/17388	2212/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948819	T T	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.663 others(4): Show c.6632A>T	p.Lys others(7): Show p.Lys2211Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6769/18335	6632/17388	2211/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948820	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0071 a0018 a0064 a0071	a0018c0017 a0064c0165 a0071c0177 a0018c0017 a0064c0165 a0071c0177	a0018c0017t0005 a0064c0165t0001 a0071c0177t0002 a0018c0017t0005 a0064c0165t0001 a0071c0177t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144 a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144	5	356	0.0140	c.663 others(4): Show c.6631A>G	p.Lys others(7): Show p.Lys2211Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6768/18335	6631/17388	2211/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948823	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0071 a0018 a0064 a0071	a0018c0017 a0064c0165 a0071c0177 a0018c0017 a0064c0165 a0071c0177	a0018c0017t0005 a0064c0165t0001 a0071c0177t0002 a0018c0017t0005 a0064c0165t0001 a0071c0177t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144 a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144	5	356	0.0140	c.662 others(4): Show c.6628G>C	p.Val others(7): Show p.Val2210Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6765/18335	6628/17388	2210/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948823	C C	T T	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0165 a0165	a0165c0100 a0165c0100	a0165c0100t0001 a0165c0100t0001	a0165c0100t0001g0240 a0165c0100t0001g0240	1	356	0.0028	c.662 others(4): Show c.6628G>A	p.Val others(7): Show p.Val2210Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6765/18335	6628/17388	2210/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948829	C C	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	c.662 others(4): Show c.6622G>A	p.Ala others(7): Show p.Ala2208Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6759/18335	6622/17388	2208/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948834	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0071 a0018 a0064 a0071	a0018c0017 a0064c0165 a0071c0177 a0018c0017 a0064c0165 a0071c0177	a0018c0017t0005 a0064c0165t0001 a0071c0177t0002 a0018c0017t0005 a0064c0165t0001 a0071c0177t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144 a0018c0017t0005g0008 a0064c0165t0001g0247 a0071c0177t0002g0144	5	356	0.0140	c.661 others(4): Show c.6617T>C	p.Leu others(7): Show p.Leu2206Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6754/18335	6617/17388	2206/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948837	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.661 others(4): Show c.6614C>T	p.Pro others(7): Show p.Pro2205Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6751/18335	6614/17388	2205/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948840	T T	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.661 others(4): Show c.6611A>C	p.Gln others(7): Show p.Gln2204Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6748/18335	6611/17388	2204/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948844	T T	C C	missense_variant missense_variant	MODERATE	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0064 a0150 a0064 a0150	a0064c0165 a0150c0082 a0064c0165 a0150c0082	a0064c0165t0001 a0150c0082t0001 a0064c0165t0001 a0150c0082t0001	a0064c0165t0001g0247 a0150c0082t0001g0088 a0064c0165t0001g0247 a0150c0082t0001g0088	2	356	0.0056	c.660 others(4): Show c.6607A>G	p.Ile others(7): Show p.Ile2203Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6744/18335	6607/17388	2203/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948847	T T	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	c.660 others(4): Show c.6604A>T	p.Ser others(7): Show p.Ser2202Cys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6741/18335	6604/17388	2202/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948892	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01175.hp1 HG02109.hp1 others(7): Show HG00733.hp1 HG01175.hp1 HG02109.hp1 HG02257.hp1 HG03130.hp1 HG03139.hp1 HG03516.hp2 HG03942.hp1 NA18906.hp1 NA18954.hp2	a0045 a0055 a0064 others(6): Show a0045 a0055 a0064 a0071 a0086 a0161 a0178 a0198 a0205	a0045c0024 a0055c0205 a0064c0165 others(6): Show a0045c0024 a0055c0205 a0064c0165 a0071c0177 a0086c0188 a0161c0079 a0178c0108 a0198c0152 a0205c0245	a0045c0024t0001 a0055c0205t0002 a0064c0165t0001 others(6): Show a0045c0024t0001 a0055c0205t0002 a0064c0165t0001 a0071c0177t0002 a0086c0188t0002 a0161c0079t0012 a0178c0108t0001 a0198c0152t0001 a0205c0245t0002	a0045c0024t0001g0142 a0045c0024t0001g0143 a0055c0205t0002g0069 others(7): Show a0045c0024t0001g0142 a0045c0024t0001g0143 a0055c0205t0002g0069 a0064c0165t0001g0247 a0071c0177t0002g0144 a0086c0188t0002g0182 a0161c0079t0012g0141 a0178c0108t0001g0098 a0198c0152t0001g0118 a0205c0245t0002g0067	10	356	0.0281	c.655 others(4): Show c.6559A>G	p.Met others(7): Show p.Met2187Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6696/18335	6559/17388	2187/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948903	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03098.hp1 HG03471.hp1 HG02451.hp1 HG03098.hp1 HG03471.hp1	a0077 a0078 a0079 a0077 a0078 a0079	a0077c0182 a0078c0175 a0079c0183 a0077c0182 a0078c0175 a0079c0183	a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003	a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164	3	356	0.0084	c.654 others(4): Show c.6548T>C	p.Val others(7): Show p.Val2183Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6685/18335	6548/17388	2183/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948909	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG02451.hp1 others(7): Show HG01167.hp1 HG01169.hp1 HG02451.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1	a0044 a0051 a0064 others(5): Show a0044 a0051 a0064 a0077 a0078 a0079 a0144 a0169	a0044c0049 a0051c0051 a0064c0165 others(5): Show a0044c0049 a0051c0051 a0064c0165 a0077c0182 a0078c0175 a0079c0183 a0144c0238 a0169c0237	a0044c0049t0003 a0051c0051t0001 a0064c0165t0001 others(5): Show a0044c0049t0003 a0051c0051t0001 a0064c0165t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0144c0238t0003 a0169c0237t0003	a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 others(6): Show a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0064c0165t0001g0247 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0144c0238t0003g0070 a0169c0237t0003g0139	10	356	0.0281	c.654 others(4): Show c.6542C>T	p.Pro others(7): Show p.Pro2181Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6679/18335	6542/17388	2181/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948910	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.654 others(4): Show c.6541C>T	p.Pro others(7): Show p.Pro2181Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6678/18335	6541/17388	2181/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948912	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(10): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02451.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA20129.hp2	a0044 a0051 a0074 others(8): Show a0044 a0051 a0074 a0075 a0076 a0077 a0078 a0079 a0144 a0169 a0197	a0044c0049 a0051c0051 a0074c0179 others(8): Show a0044c0049 a0051c0051 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0144c0238 a0169c0237 a0197c0057	a0044c0049t0003 a0051c0051t0001 a0074c0179t0003 others(8): Show a0044c0049t0003 a0051c0051t0001 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0144c0238t0003 a0169c0237t0003 a0197c0057t0001	a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 others(9): Show a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0144c0238t0003g0070 a0169c0237t0003g0139 a0197c0057t0001g0068	13	356	0.0365	c.653 others(4): Show c.6539C>A	p.Pro others(7): Show p.Pro2180Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6676/18335	6539/17388	2180/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948913	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(17): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02257.hp1 HG02451.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03942.hp1 NA18948.hp2 NA18953.hp2 NA18977.hp2 NA19081.hp2 NA20129.hp2	a0018 a0044 a0051 others(13): Show a0018 a0044 a0051 a0064 a0071 a0074 a0075 a0076 a0077 a0078 a0079 a0086 a0144 a0153 a0169 a0197	a0018c0017 a0044c0049 a0051c0051 others(13): Show a0018c0017 a0044c0049 a0051c0051 a0064c0165 a0071c0177 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0086c0188 a0144c0238 a0153c0147 a0169c0237 a0197c0057	a0018c0017t0005 a0044c0049t0003 a0051c0051t0001 others(13): Show a0018c0017t0005 a0044c0049t0003 a0051c0051t0001 a0064c0165t0001 a0071c0177t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0086c0188t0002 a0144c0238t0003 a0153c0147t0001 a0169c0237t0003 a0197c0057t0001	a0018c0017t0005g0008 a0044c0049t0003g0131 a0044c0049t0003g0133 others(14): Show a0018c0017t0005g0008 a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0064c0165t0001g0247 a0071c0177t0002g0144 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0086c0188t0002g0182 a0144c0238t0003g0070 a0153c0147t0001g0188 a0169c0237t0003g0139 a0197c0057t0001g0068	20	356	0.0562	c.653 others(4): Show c.6538C>G	p.Pro others(7): Show p.Pro2180Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6675/18335	6538/17388	2180/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948919	C C	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	c.653 others(4): Show c.6532G>C	p.Val others(7): Show p.Val2178Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6669/18335	6532/17388	2178/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948922	C C	G G	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0153 a0153	a0153c0147 a0153c0147	a0153c0147t0001 a0153c0147t0001	a0153c0147t0001g0188 a0153c0147t0001g0188	1	356	0.0028	c.652 others(4): Show c.6529G>C	p.Asp others(7): Show p.Asp2177His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6666/18335	6529/17388	2177/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948924	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.652 others(4): Show c.6527T>C	p.Val others(7): Show p.Val2176Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6664/18335	6527/17388	2176/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948925	C C	G G	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0067 a0067	a0067c0058 a0067c0058	a0067c0058t0002 a0067c0058t0002	a0067c0058t0002g0302 a0067c0058t0002g0302	1	356	0.0028	c.652 others(4): Show c.6526G>C	p.Val others(7): Show p.Val2176Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6663/18335	6526/17388	2176/5795	chr14	TogoVar

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