Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	104949923	T T	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03942.hp1 HG01884.hp1 HG03942.hp1	a0054 a0096 a0054 a0096	a0054c0097 a0096c0121 a0054c0097 a0096c0121	a0054c0097t0002 a0096c0121t0002 a0054c0097t0002 a0096c0121t0002	a0054c0097t0002g0247 a0096c0121t0002g0171 a0054c0097t0002g0247 a0096c0121t0002g0171	2	354	0.0056	c.552 others(4): Show c.5528A>C	p.Glu others(7): Show p.Glu1843Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5665/18335	5528/17388	1843/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949925	G G	C C	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02965.hp2 HG03491.hp1 others(3): Show HG02698.hp1 HG02965.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 NA18970.hp1	a0002 a0004 a0083 a0002 a0004 a0083	a0002c0003 a0004c0006 a0083c0073 a0002c0003 a0004c0006 a0083c0073	a0002c0003t0002 a0004c0006t0004 a0083c0073t0001 a0002c0003t0002 a0004c0006t0004 a0083c0073t0001	a0002c0003t0002g0038 a0002c0003t0002g0218 a0002c0003t0002g0227 others(2): Show a0002c0003t0002g0038 a0002c0003t0002g0218 a0002c0003t0002g0227 a0004c0006t0004g0056 a0083c0073t0001g0094	6	347	0.0173	c.552 others(4): Show c.5526C>G	p.Ile others(7): Show p.Ile1842Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5663/18335	5526/17388	1842/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949932	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02723.hp2 HG03225.hp1 HG00639.hp1 HG02723.hp2 HG03225.hp1	a0041 a0079 a0089 a0041 a0079 a0089	a0041c0053 a0079c0043 a0089c0146 a0041c0053 a0079c0043 a0089c0146	a0041c0053t0002 a0079c0043t0001 a0089c0146t0003 a0041c0053t0002 a0079c0043t0001 a0089c0146t0003	a0041c0053t0002g0147 a0079c0043t0001g0074 a0089c0146t0003g0140 a0041c0053t0002g0147 a0079c0043t0001g0074 a0089c0146t0003g0140	3	354	0.0085	c.551 others(4): Show c.5519A>G	p.Lys others(7): Show p.Lys1840Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5656/18335	5519/17388	1840/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949933	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.551 others(4): Show c.5518A>G	p.Lys others(7): Show p.Lys1840Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5655/18335	5518/17388	1840/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949935	C C	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG02109.hp1 HG03209.hp1 HG00733.hp1 HG02109.hp1 HG03209.hp1	a0042 a0062 a0088 a0042 a0062 a0088	a0042c0143 a0062c0125 a0088c0104 a0042c0143 a0062c0125 a0088c0104	a0042c0143t0002 a0062c0125t0002 a0088c0104t0002 a0042c0143t0002 a0062c0125t0002 a0088c0104t0002	a0042c0143t0002g0076 a0062c0125t0002g0078 a0088c0104t0002g0215 a0042c0143t0002g0076 a0062c0125t0002g0078 a0088c0104t0002g0215	3	354	0.0085	c.551 others(4): Show c.5516G>A	p.Gly others(7): Show p.Gly1839Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5653/18335	5516/17388	1839/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949947	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00621.hp1 HG00673.hp2 others(22): Show HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01192.hp2 HG01981.hp2 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02273.hp2 HG03704.hp2 HG04184.hp2 HG04228.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18963.hp1 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1	a0001 a0007 a0035 others(3): Show a0001 a0007 a0035 a0064 a0095 a0103	a0001c0001 a0001c0002 a0001c0064 others(5): Show a0001c0001 a0001c0002 a0001c0064 a0007c0008 a0035c0035 a0064c0079 a0095c0056 a0103c0059	a0001c0001t0001 a0001c0002t0001 a0001c0064t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0064t0001 a0007c0008t0001 a0007c0008t0014 a0035c0035t0002 a0064c0079t0002 a0095c0056t0001 a0103c0059t0001	a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0002t0001g0150 others(11): Show a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0064t0001g0191 a0007c0008t0001g0010 a0007c0008t0001g0193 a0007c0008t0014g0192 a0035c0035t0002g0075 a0064c0079t0002g0085 a0095c0056t0001g0172 a0103c0059t0001g0199	25	354	0.0706	c.550 others(4): Show c.5504T>C	p.Val others(7): Show p.Val1835Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5641/18335	5504/17388	1835/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949951	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.550 others(4): Show c.5500G>A	p.Gly others(7): Show p.Gly1834Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5637/18335	5500/17388	1834/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949959	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp2 HG06807.hp1 HG03130.hp1 HG03130.hp2 HG06807.hp1	a0086 a0087 a0098 a0086 a0087 a0098	a0086c0099 a0087c0087 a0098c0100 a0086c0099 a0087c0087 a0098c0100	a0086c0099t0001 a0087c0087t0001 a0098c0100t0001 a0086c0099t0001 a0087c0087t0001 a0098c0100t0001	a0086c0099t0001g0216 a0087c0087t0001g0103 a0098c0100t0001g0217 a0086c0099t0001g0216 a0087c0087t0001g0103 a0098c0100t0001g0217	3	354	0.0085	c.549 others(4): Show c.5492C>T	p.Pro others(7): Show p.Pro1831Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5629/18335	5492/17388	1831/5795	chr14	TogoVar
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	a0001 a0013 a0014 others(2): Show a0001 a0013 a0014 a0020 a0050	a0001c0001 a0001c0040 a0013c0060 others(3): Show a0001c0001 a0001c0040 a0013c0060 a0014c0081 a0020c0032 a0050c0106	a0001c0001t0001 a0001c0040t0001 a0013c0060t0001 others(3): Show a0001c0001t0001 a0001c0040t0001 a0013c0060t0001 a0014c0081t0003 a0020c0032t0002 a0050c0106t0002	a0001c0001t0001g0117 a0001c0040t0001g0029 a0013c0060t0001g0118 others(4): Show a0001c0001t0001g0117 a0001c0040t0001g0029 a0013c0060t0001g0118 a0014c0081t0003g0116 a0020c0032t0002g0119 a0020c0032t0002g0249 a0050c0106t0002g0250	8	354	0.0226	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	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	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	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	354	0.0085	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	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	353	0.0085	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	a0068 a0068	a0068c0127 a0068c0127	a0068c0127t0002 a0068c0127t0002	a0068c0127t0002g0145 a0068c0127t0002g0145	1	351	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	349	0.0086	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	351	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	353	0.0085	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	a0012 a0085 a0012 a0085	a0012c0108 a0012c0109 a0085c0084 a0012c0108 a0012c0109 a0085c0084	a0012c0108t0003 a0012c0109t0003 a0085c0084t0002 a0012c0108t0003 a0012c0109t0003 a0085c0084t0002	a0012c0108t0003g0081 a0012c0109t0003g0082 a0085c0084t0002g0100 a0012c0108t0003g0081 a0012c0109t0003g0082 a0085c0084t0002g0100	3	354	0.0085	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	a0078 a0086 a0096 others(1): Show a0078 a0086 a0096 a0114	a0078c0095 a0086c0099 a0096c0121 others(1): Show a0078c0095 a0086c0099 a0096c0121 a0114c0101	a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 others(1): Show a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 others(1): Show a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	4	354	0.0113	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	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	354	0.0085	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	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	343	0.0087	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	a0003 a0016 a0034 others(5): Show a0003 a0016 a0034 a0046 a0068 a0075 a0086 a0094	a0003c0004 a0016c0019 a0034c0031 others(5): Show a0003c0004 a0016c0019 a0034c0031 a0046c0102 a0068c0127 a0075c0063 a0086c0099 a0094c0139	a0003c0004t0002 a0016c0019t0005 a0034c0031t0002 others(5): Show a0003c0004t0002 a0016c0019t0005 a0034c0031t0002 a0046c0102t0002 a0068c0127t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002	a0003c0004t0002g0184 a0016c0019t0005g0014 a0034c0031t0002g0169 others(6): Show a0003c0004t0002g0184 a0016c0019t0005g0014 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0068c0127t0002g0145 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207	11	351	0.0313	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	a0034 a0046 a0075 others(5): Show a0034 a0046 a0075 a0078 a0086 a0094 a0096 a0114	a0034c0031 a0046c0102 a0075c0063 others(5): Show a0034c0031 a0046c0102 a0075c0063 a0078c0095 a0086c0099 a0094c0139 a0096c0121 a0114c0101	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(5): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0078c0095t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(6): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0078c0095t0001g0254 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251	9	354	0.0254	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	a0034 a0046 a0075 others(1): Show a0034 a0046 a0075 a0094	a0034c0031 a0046c0102 a0075c0063 others(1): Show a0034c0031 a0046c0102 a0075c0063 a0094c0139	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(1): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0094c0139t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(2): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0094c0139t0002g0207	5	354	0.0141	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	a0034 a0046 a0075 a0034 a0046 a0075	a0034c0031 a0046c0102 a0075c0063 a0034c0031 a0046c0102 a0075c0063	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111	4	353	0.0113	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	350	0.0029	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	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	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	a0056 a0056	a0056c0051 a0056c0051	a0056c0051t0001 a0056c0051t0001	a0056c0051t0001g0097 a0056c0051t0001g0097	1	351	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	a0034 a0046 a0075 a0034 a0046 a0075	a0034c0031 a0046c0102 a0075c0063 a0034c0031 a0046c0102 a0075c0063	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111	4	354	0.0113	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	a0034 a0046 a0075 a0034 a0046 a0075	a0034c0031 a0046c0102 a0075c0063 a0034c0031 a0046c0102 a0075c0063	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111	4	354	0.0113	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	a0034 a0046 a0075 a0034 a0046 a0075	a0034c0031 a0046c0102 a0075c0063 a0034c0031 a0046c0102 a0075c0063	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111	4	354	0.0113	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	352	0.0085	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0075 a0086 a0096	a0016c0019 a0034c0031 a0046c0102 others(3): Show a0016c0019 a0034c0031 a0046c0102 a0075c0063 a0086c0099 a0096c0121	a0016c0019t0005 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0019t0005 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0019t0005g0014 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	9	354	0.0254	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	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0075 a0086 a0094 a0096	a0016c0019 a0034c0031 a0046c0102 others(4): Show a0016c0019 a0034c0031 a0046c0102 a0075c0063 a0086c0099 a0094c0139 a0096c0121	a0016c0019t0005 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0019t0005 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002	a0016c0019t0005g0014 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0019t0005g0014 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171	10	354	0.0282	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	353	0.0057	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	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	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	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	a0034 a0046 a0075 others(3): Show a0034 a0046 a0075 a0086 a0094 a0096	a0034c0031 a0046c0102 a0075c0063 others(3): Show a0034c0031 a0046c0102 a0075c0063 a0086c0099 a0094c0139 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(3): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(4): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171	7	354	0.0198	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	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	a0034 a0046 a0062 others(4): Show a0034 a0046 a0062 a0075 a0086 a0094 a0096	a0034c0031 a0046c0102 a0062c0125 others(4): Show a0034c0031 a0046c0102 a0062c0125 a0075c0063 a0086c0099 a0094c0139 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0062c0125t0002 others(4): Show a0034c0031t0002 a0046c0102t0002 a0062c0125t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(5): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0062c0125t0002g0078 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171	8	354	0.0226	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	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	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0075 a0086 a0094 a0096	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0094c0139 a0096c0121	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171	9	354	0.0254	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	a0088 a0088	a0088c0104 a0088c0104	a0088c0104t0002 a0088c0104t0002	a0088c0104t0002g0215 a0088c0104t0002g0215	1	354	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	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	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0075 a0086 a0094 a0096	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0094c0139 a0096c0121	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171	9	354	0.0254	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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

Search by Variant

Search

Search Results