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	104949961	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG01255.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG01255.hp2 HG02258.hp1 HG03041.hp2 HG03453.hp2 HG03486.hp2 NA19043.hp1	a0026 a0051 a0085 others(3): Show a0026 a0051 a0085 a0124 a0157 a0163	a0026c0042 a0051c0051 a0085c0172 others(3): Show a0026c0042 a0051c0051 a0085c0172 a0124c0071 a0157c0080 a0163c0098	a0026c0042t0002 a0051c0051t0001 a0085c0172t0002 others(3): Show a0026c0042t0002 a0051c0051t0001 a0085c0172t0002 a0124c0071t0001 a0157c0080t0003 a0163c0098t0001	a0026c0042t0002g0124 a0026c0042t0002g0295 a0051c0051t0001g0024 others(4): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0051c0051t0001g0024 a0085c0172t0002g0296 a0124c0071t0001g0123 a0157c0080t0003g0121 a0163c0098t0001g0122	8	356	0.0225	c.549 others(4): Show c.5490G>T	p.Met others(7): Show p.Met1830Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5627/18335	5490/17388	1830/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949986	T T	C C	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.546 others(4): Show c.5465A>G	p.Lys others(7): Show p.Lys1822Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5602/18335	5465/17388	1822/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949999	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.545 others(4): Show c.5452G>A	p.Ala others(7): Show p.Ala1818Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5589/18335	5452/17388	1818/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950005	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.544 others(4): Show c.5446G>T	p.Val others(7): Show p.Val1816Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5583/18335	5446/17388	1816/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950005	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0196 a0196	a0196c0207 a0196c0207	a0196c0207t0002 a0196c0207t0002	a0196c0207t0002g0153 a0196c0207t0002g0153	1	356	0.0028	c.544 others(4): Show c.5446G>A	p.Val others(7): Show p.Val1816Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5583/18335	5446/17388	1816/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950006	A A	C C	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.544 others(4): Show c.5445T>G	p.Asp others(7): Show p.Asp1815Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5582/18335	5445/17388	1815/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950007	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.544 others(4): Show c.5444A>G	p.Asp others(7): Show p.Asp1815Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5581/18335	5444/17388	1815/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950007	T T	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.544 others(4): Show c.5444A>C	p.Asp others(7): Show p.Asp1815Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5581/18335	5444/17388	1815/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950014	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02976.hp2 NA18522.hp2 HG02055.hp2 HG02976.hp2 NA18522.hp2	a0082 a0083 a0130 a0082 a0083 a0130	a0082c0174 a0083c0176 a0130c0075 a0082c0174 a0083c0176 a0130c0075	a0082c0174t0003 a0083c0176t0003 a0130c0075t0002 a0082c0174t0003 a0083c0176t0003 a0130c0075t0002	a0082c0174t0003g0072 a0083c0176t0003g0073 a0130c0075t0002g0093 a0082c0174t0003g0072 a0083c0176t0003g0073 a0130c0075t0002g0093	3	356	0.0084	c.543 others(4): Show c.5437G>A	p.Asp others(7): Show p.Asp1813Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5574/18335	5437/17388	1813/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950026	G G	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03130.hp1 HG03942.hp1 others(1): Show HG02717.hp2 HG03130.hp1 HG03942.hp1 NA20129.hp2	a0064 a0074 a0075 others(1): Show a0064 a0074 a0075 a0086	a0064c0165 a0074c0179 a0075c0164 others(1): Show a0064c0165 a0074c0179 a0075c0164 a0086c0188	a0064c0165t0001 a0074c0179t0003 a0075c0164t0001 others(1): Show a0064c0165t0001 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0064c0165t0001g0247 a0074c0179t0003g0297 a0075c0164t0001g0301 others(1): Show a0064c0165t0001g0247 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	4	356	0.0112	c.542 others(4): Show c.5425C>A	p.Leu others(7): Show p.Leu1809Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5562/18335	5425/17388	1809/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950031	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.542 others(4): Show c.5420G>A	p.Gly others(7): Show p.Gly1807Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5557/18335	5420/17388	1807/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950043	A A	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.540 others(4): Show c.5408T>G	p.Val others(7): Show p.Val1803Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5545/18335	5408/17388	1803/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950043	A A	G G	missense_variant missense_variant	MODERATE	HG00597.hp2 HG01167.hp2 HG02486.hp2 others(8): Show HG00597.hp2 HG01167.hp2 HG02486.hp2 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2 NA20129.hp1	a0018 a0064 a0069 others(6): Show a0018 a0064 a0069 a0080 a0081 a0090 a0114 a0133 a0196	a0018c0017 a0064c0165 a0069c0184 others(6): Show a0018c0017 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0090c0195 a0114c0225 a0133c0097 a0196c0207	a0018c0017t0005 a0064c0165t0001 a0069c0184t0002 others(6): Show a0018c0017t0005 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0090c0195t0002 a0114c0225t0002 a0133c0097t0001 a0196c0207t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0069c0184t0002g0209 others(6): Show a0018c0017t0005g0008 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0090c0195t0002g0205 a0114c0225t0002g0234 a0133c0097t0001g0116 a0196c0207t0002g0153	11	356	0.0309	c.540 others(4): Show c.5408T>C	p.Val others(7): Show p.Val1803Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5545/18335	5408/17388	1803/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950047	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(6): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0064 a0069 a0074 others(6): Show a0064 a0069 a0074 a0075 a0080 a0081 a0086 a0114 a0133	a0064c0165 a0069c0184 a0074c0179 others(6): Show a0064c0165 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0114c0225 a0133c0097	a0064c0165t0001 a0069c0184t0002 a0074c0179t0003 others(6): Show a0064c0165t0001 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0114c0225t0002 a0133c0097t0001	a0064c0165t0001g0247 a0069c0184t0002g0209 a0074c0179t0003g0297 others(6): Show a0064c0165t0001g0247 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.540 others(4): Show c.5404A>G	p.Ser others(7): Show p.Ser1802Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5541/18335	5404/17388	1802/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950062	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1	a0069 a0080 a0081 others(2): Show a0069 a0080 a0081 a0114 a0133	a0069c0184 a0080c0180 a0081c0173 others(2): Show a0069c0184 a0080c0180 a0081c0173 a0114c0225 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(2): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0114c0225t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(2): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0114c0225t0002g0234 a0133c0097t0001g0116	5	356	0.0140	c.538 others(4): Show c.5389G>A	p.Gly others(7): Show p.Gly1797Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5526/18335	5389/17388	1797/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950071	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0133	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	4	356	0.0112	c.538 others(4): Show c.5380G>C	p.Glu others(7): Show p.Glu1794Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5517/18335	5380/17388	1794/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950071	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.538 others(4): Show c.5380G>A	p.Glu others(7): Show p.Glu1794Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5517/18335	5380/17388	1794/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950074	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.537 others(4): Show c.5377G>A	p.Val others(7): Show p.Val1793Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5514/18335	5377/17388	1793/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950075	G G	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0099 a0099	a0099c0061 a0099c0061	a0099c0061t0001 a0099c0061t0001	a0099c0061t0001g0091 a0099c0061t0001g0091	1	356	0.0028	c.537 others(4): Show c.5376C>A	p.Asp others(7): Show p.Asp1792Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5513/18335	5376/17388	1792/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950086	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0133	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	4	356	0.0112	c.536 others(4): Show c.5365G>A	p.Val others(7): Show p.Val1789Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5502/18335	5365/17388	1789/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950092	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0133	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	4	356	0.0112	c.535 others(4): Show c.5359C>T	p.Pro others(7): Show p.Pro1787Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5496/18335	5359/17388	1787/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950101	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0133	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	4	356	0.0112	c.535 others(4): Show c.5350G>A	p.Val others(7): Show p.Val1784Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5487/18335	5350/17388	1784/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950104	C C	T T	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.534 others(4): Show c.5347G>A	p.Glu others(7): Show p.Glu1783Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5484/18335	5347/17388	1783/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950117	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03130.hp1 others(6): Show HG01167.hp2 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2 NA20129.hp1	a0018 a0064 a0069 others(4): Show a0018 a0064 a0069 a0080 a0081 a0086 a0133	a0018c0017 a0064c0165 a0069c0184 others(4): Show a0018c0017 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0018c0017t0005 a0064c0165t0001 a0069c0184t0002 others(4): Show a0018c0017t0005 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0018c0017t0005g0008 a0064c0165t0001g0247 a0069c0184t0002g0209 others(4): Show a0018c0017t0005g0008 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	9	356	0.0253	c.533 others(4): Show c.5334G>A	p.Met others(7): Show p.Met1778Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5471/18335	5334/17388	1778/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950118	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03130.hp1 others(7): Show HG01167.hp2 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2 NA20129.hp1	a0018 a0064 a0069 others(5): Show a0018 a0064 a0069 a0080 a0081 a0086 a0114 a0133	a0018c0017 a0064c0165 a0069c0184 others(5): Show a0018c0017 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0114c0225 a0133c0097	a0018c0017t0005 a0064c0165t0001 a0069c0184t0002 others(5): Show a0018c0017t0005 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0114c0225t0002 a0133c0097t0001	a0018c0017t0005g0008 a0064c0165t0001g0247 a0069c0184t0002g0209 others(5): Show a0018c0017t0005g0008 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0114c0225t0002g0234 a0133c0097t0001g0116	10	356	0.0281	c.533 others(4): Show c.5333T>C	p.Met others(7): Show p.Met1778Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5470/18335	5333/17388	1778/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950127	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.532 others(4): Show c.5324C>T	p.Ala others(7): Show p.Ala1775Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5461/18335	5324/17388	1775/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950136	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.531 others(4): Show c.5315G>A	p.Gly others(7): Show p.Gly1772Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5452/18335	5315/17388	1772/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950137	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.531 others(4): Show c.5314G>A	p.Gly others(7): Show p.Gly1772Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5451/18335	5314/17388	1772/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950164	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.528 others(4): Show c.5287G>A	p.Val others(7): Show p.Val1763Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5424/18335	5287/17388	1763/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950168	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03130.hp1 others(4): Show HG01167.hp2 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0064 a0069 a0080 others(4): Show a0064 a0069 a0080 a0081 a0086 a0114 a0133	a0064c0165 a0069c0184 a0080c0180 others(4): Show a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0114c0225 a0133c0097	a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 others(4): Show a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0114c0225t0002 a0133c0097t0001	a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 others(4): Show a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0114c0225t0002g0234 a0133c0097t0001g0116	7	356	0.0197	c.528 others(4): Show c.5283G>A	p.Met others(7): Show p.Met1761Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5420/18335	5283/17388	1761/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950170	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.528 others(4): Show c.5281A>C	p.Met others(7): Show p.Met1761Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5418/18335	5281/17388	1761/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950173	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.527 others(4): Show c.5278C>G	p.Gln others(7): Show p.Gln1760Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5415/18335	5278/17388	1760/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950187	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02109.hp1 HG02630.hp2 others(5): Show HG01167.hp2 HG02109.hp1 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0055 a0064 a0069 others(5): Show a0055 a0064 a0069 a0080 a0081 a0086 a0114 a0133	a0055c0205 a0064c0165 a0069c0184 others(5): Show a0055c0205 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0114c0225 a0133c0097	a0055c0205t0002 a0064c0165t0001 a0069c0184t0002 others(5): Show a0055c0205t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0114c0225t0002 a0133c0097t0001	a0055c0205t0002g0069 a0064c0165t0001g0247 a0069c0184t0002g0209 others(5): Show a0055c0205t0002g0069 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0114c0225t0002g0234 a0133c0097t0001g0116	8	356	0.0225	c.526 others(4): Show c.5264C>A	p.Ala others(7): Show p.Ala1755Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5401/18335	5264/17388	1755/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950191	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.526 others(4): Show c.5260G>A	p.Val others(7): Show p.Val1754Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5397/18335	5260/17388	1754/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950194	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.525 others(4): Show c.5257A>G	p.Lys others(7): Show p.Lys1753Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5394/18335	5257/17388	1753/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950200	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.525 others(4): Show c.5251A>G	p.Met others(7): Show p.Met1751Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5388/18335	5251/17388	1751/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950204	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0061 a0064 a0069 others(6): Show a0061 a0064 a0069 a0080 a0081 a0086 a0089 a0114 a0133	a0061c0166 a0064c0165 a0069c0184 others(6): Show a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097	a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 others(6): Show a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 others(6): Show a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.524 others(4): Show c.5247G>C	p.Leu others(7): Show p.Leu1749Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5384/18335	5247/17388	1749/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950218	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0070 a0070	a0070c0170 a0070c0170	a0070c0170t0002 a0070c0170t0002	a0070c0170t0002g0246 a0070c0170t0002g0246	1	356	0.0028	c.523 others(4): Show c.5233C>G	p.Gln others(7): Show p.Gln1745Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5370/18335	5233/17388	1745/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950221	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.523 others(4): Show c.5230G>C	p.Val others(7): Show p.Val1744Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5367/18335	5230/17388	1744/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950242	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0061 a0064 a0069 others(6): Show a0061 a0064 a0069 a0080 a0081 a0086 a0089 a0114 a0133	a0061c0166 a0064c0165 a0069c0184 others(6): Show a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097	a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 others(6): Show a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 others(6): Show a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.520 others(4): Show c.5209T>C	p.Phe others(7): Show p.Phe1737Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5346/18335	5209/17388	1737/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950247	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.520 others(4): Show c.5204C>T	p.Ala others(7): Show p.Ala1735Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5341/18335	5204/17388	1735/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950250	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.520 others(4): Show c.5201G>A	p.Gly others(7): Show p.Gly1734Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5338/18335	5201/17388	1734/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950257	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0061 a0069 a0080 others(2): Show a0061 a0069 a0080 a0081 a0089	a0061c0166 a0069c0184 a0080c0180 others(2): Show a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 others(2): Show a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 others(2): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	5	356	0.0140	c.519 others(4): Show c.5194C>T	p.Pro others(7): Show p.Pro1732Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5331/18335	5194/17388	1732/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950260	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0061 a0064 a0069 others(6): Show a0061 a0064 a0069 a0080 a0081 a0086 a0089 a0114 a0133	a0061c0166 a0064c0165 a0069c0184 others(6): Show a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097	a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 others(6): Show a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 others(6): Show a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	9	356	0.0253	c.519 others(4): Show c.5191C>G	p.Leu others(7): Show p.Leu1731Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5328/18335	5191/17388	1731/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950262	G G	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.518 others(4): Show c.5189C>A	p.Pro others(7): Show p.Pro1730His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5326/18335	5189/17388	1730/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950271	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.518 others(4): Show c.5180C>T	p.Pro others(7): Show p.Pro1727Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5317/18335	5180/17388	1727/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950284	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02486.hp2 others(13): Show HG01167.hp2 HG01884.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18522.hp1 NA20129.hp1 NA20300.hp2	a0032 a0061 a0064 others(12): Show a0032 a0061 a0064 a0069 a0080 a0081 a0086 a0089 a0102 a0103 a0114 a0127 a0128 a0133 a0196	a0032c0050 a0061c0166 a0064c0165 others(12): Show a0032c0050 a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0102c0064 a0103c0065 a0114c0225 a0127c0241 a0128c0239 a0133c0097 a0196c0207	a0032c0050t0003 a0061c0166t0002 a0064c0165t0001 others(12): Show a0032c0050t0003 a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0102c0064t0003 a0103c0065t0003 a0114c0225t0002 a0127c0241t0003 a0128c0239t0003 a0133c0097t0001 a0196c0207t0002	a0032c0050t0003g0136 a0032c0050t0003g0145 a0061c0166t0002g0293 others(13): Show a0032c0050t0003g0136 a0032c0050t0003g0145 a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0102c0064t0003g0157 a0103c0065t0003g0156 a0114c0225t0002g0234 a0127c0241t0003g0138 a0128c0239t0003g0135 a0133c0097t0001g0116 a0196c0207t0002g0153	16	356	0.0449	c.516 others(4): Show c.5167A>G	p.Asn others(7): Show p.Asn1723Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5304/18335	5167/17388	1723/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950287	C C	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.516 others(4): Show c.5164G>T	p.Val others(7): Show p.Val1722Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5301/18335	5164/17388	1722/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950302	C C	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.514 others(4): Show c.5149G>C	p.Val others(7): Show p.Val1717Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5286/18335	5149/17388	1717/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950305	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.514 others(4): Show c.5146G>A	p.Glu others(7): Show p.Glu1716Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5283/18335	5146/17388	1716/5795	chr14	TogoVar

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