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	104953273	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG02698.hp2 others(9): Show HG00438.hp2 HG00558.hp1 HG02698.hp2 HG03710.hp2 NA18951.hp1 NA18956.hp2 NA18970.hp1 NA18981.hp1 NA19005.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0004 a0100 a0004 a0100	a0004c0006 a0100c0093 a0004c0006 a0100c0093	a0004c0006t0004 a0100c0093t0010 a0004c0006t0004 a0100c0093t0010	a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(6): Show a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0100c0093t0010g0055	12	354	0.0339	c.217 others(4): Show c.2178G>C	p.Gln others(6): Show p.Gln726His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2315/18335	2178/17388	726/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953316	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0067 a0067	a0067c0130 a0067c0130	a0067c0130t0003 a0067c0130t0003	a0067c0130t0003g0141 a0067c0130t0003g0141	1	354	0.0028	c.213 others(4): Show c.2135T>C	p.Leu others(6): Show p.Leu712Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2272/18335	2135/17388	712/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953346	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0079 a0079	a0079c0043 a0079c0043	a0079c0043t0001 a0079c0043t0001	a0079c0043t0001g0074 a0079c0043t0001g0074	1	354	0.0028	c.210 others(4): Show c.2105C>T	p.Ala others(6): Show p.Ala702Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2242/18335	2105/17388	702/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953391	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0062 a0062	a0062c0125 a0062c0125	a0062c0125t0002 a0062c0125t0002	a0062c0125t0002g0078 a0062c0125t0002g0078	1	354	0.0028	c.206 others(4): Show c.2060C>T	p.Ala others(6): Show p.Ala687Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2197/18335	2060/17388	687/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953400	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0062 a0062	a0062c0125 a0062c0125	a0062c0125t0002 a0062c0125t0002	a0062c0125t0002g0078 a0062c0125t0002g0078	1	354	0.0028	c.205 others(4): Show c.2051T>C	p.Leu others(6): Show p.Leu684Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2188/18335	2051/17388	684/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953403	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0062 a0062	a0062c0125 a0062c0125	a0062c0125t0002 a0062c0125t0002	a0062c0125t0002g0078 a0062c0125t0002g0078	1	354	0.0028	c.204 others(4): Show c.2048C>T	p.Pro others(6): Show p.Pro683Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2185/18335	2048/17388	683/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953418	G G	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02976.hp1 NA19030.hp2 others(1): Show HG00639.hp1 HG02976.hp1 NA19030.hp2 NA20300.hp2	a0041 a0084 a0111 others(1): Show a0041 a0084 a0111 a0116	a0041c0053 a0084c0054 a0111c0052 others(1): Show a0041c0053 a0084c0054 a0111c0052 a0116c0055	a0041c0053t0002 a0084c0054t0003 a0111c0052t0002 others(1): Show a0041c0053t0002 a0084c0054t0003 a0111c0052t0002 a0116c0055t0003	a0041c0053t0002g0147 a0084c0054t0003g0149 a0111c0052t0002g0146 others(1): Show a0041c0053t0002g0147 a0084c0054t0003g0149 a0111c0052t0002g0146 a0116c0055t0003g0148	4	354	0.0113	c.203 others(4): Show c.2033C>G	p.Pro others(6): Show p.Pro678Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2170/18335	2033/17388	678/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953578	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0095 a0095	a0095c0056 a0095c0056	a0095c0056t0001 a0095c0056t0001	a0095c0056t0001g0172 a0095c0056t0001g0172	1	354	0.0028	c.187 others(4): Show c.1873G>A	p.Glu others(6): Show p.Glu625Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2010/18335	1873/17388	625/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953649	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01891.hp2 HG02976.hp1 others(2): Show HG00639.hp1 HG01891.hp2 HG02976.hp1 NA19030.hp2 NA20300.hp2	a0041 a0056 a0084 others(2): Show a0041 a0056 a0084 a0111 a0116	a0041c0053 a0056c0051 a0084c0054 others(2): Show a0041c0053 a0056c0051 a0084c0054 a0111c0052 a0116c0055	a0041c0053t0002 a0056c0051t0001 a0084c0054t0003 others(2): Show a0041c0053t0002 a0056c0051t0001 a0084c0054t0003 a0111c0052t0002 a0116c0055t0003	a0041c0053t0002g0147 a0056c0051t0001g0097 a0084c0054t0003g0149 others(2): Show a0041c0053t0002g0147 a0056c0051t0001g0097 a0084c0054t0003g0149 a0111c0052t0002g0146 a0116c0055t0003g0148	5	354	0.0141	c.180 others(4): Show c.1802G>A	p.Gly others(6): Show p.Gly601Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1939/18335	1802/17388	601/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953797	C C	T T	missense_variant missense_variant	MODERATE	HG01071.hp1 HG01081.hp1 HG01071.hp1 HG01081.hp1	a0026 a0026	a0026c0128 a0026c0129 a0026c0128 a0026c0129	a0026c0128t0002 a0026c0129t0002 a0026c0128t0002 a0026c0129t0002	a0026c0128t0002g0204 a0026c0129t0002g0205 a0026c0128t0002g0204 a0026c0129t0002g0205	2	354	0.0056	c.165 others(4): Show c.1654G>A	p.Asp others(6): Show p.Asp552Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1791/18335	1654/17388	552/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953878	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0003 a0004 a0006 others(40): Show a0003 a0004 a0006 a0010 a0012 a0016 a0017 a0020 a0022 a0027 a0028 a0032 a0034 a0040 a0046 a0047 a0048 a0050 a0054 a0055 a0062 a0063 a0066 a0071 a0074 a0077 a0078 a0081 a0086 a0088 a0090 a0091 a0096 a0097 a0098 a0100 a0104 a0105 a0106 a0108 a0109 a0110 a0114	a0003c0004 a0003c0119 a0004c0006 others(46): Show a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0016c0019 a0016c0113 a0017c0013 a0020c0032 a0020c0110 a0022c0020 a0027c0034 a0028c0118 a0028c0120 a0032c0021 a0034c0031 a0040c0123 a0046c0102 a0047c0094 a0048c0112 a0050c0106 a0054c0097 a0055c0096 a0062c0125 a0063c0111 a0066c0107 a0071c0148 a0074c0103 a0077c0105 a0078c0095 a0081c0124 a0086c0099 a0088c0104 a0090c0098 a0091c0126 a0096c0121 a0097c0122 a0098c0100 a0100c0093 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0110c0048 a0114c0101	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(47): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0032c0021t0009 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0054c0097t0002 a0055c0096t0001 a0062c0125t0002 a0063c0111t0002 a0066c0107t0002 a0071c0148t0002 a0074c0103t0002 a0077c0105t0002 a0078c0095t0001 a0081c0124t0002 a0086c0099t0001 a0088c0104t0002 a0090c0098t0002 a0091c0126t0002 a0096c0121t0002 a0097c0122t0002 a0098c0100t0001 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0114c0101t0003	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(74): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0054c0097t0002g0247 a0055c0096t0001g0255 a0062c0125t0002g0078 a0063c0111t0002g0137 a0066c0107t0002g0174 a0071c0148t0002g0083 a0074c0103t0002g0080 a0077c0105t0002g0133 a0078c0095t0001g0254 a0081c0124t0002g0246 a0086c0099t0001g0216 a0088c0104t0002g0215 a0090c0098t0002g0203 a0091c0126t0002g0196 a0096c0121t0002g0171 a0097c0122t0002g0180 a0098c0100t0001g0217 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0114c0101t0003g0251	93	354	0.2627	c.157 others(4): Show c.1573A>G	p.Thr others(6): Show p.Thr525Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1710/18335	1573/17388	525/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954090	C C	G G	missense_variant missense_variant	MODERATE	HG01496.hp1 HG01496.hp1	a0052 a0052	a0052c0049 a0052c0049	a0052c0049t0001 a0052c0049t0001	a0052c0049t0001g0114 a0052c0049t0001g0114	1	354	0.0028	c.136 others(4): Show c.1361G>C	p.Gly others(6): Show p.Gly454Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1498/18335	1361/17388	454/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954197	C C	A A	missense_variant missense_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0091 a0091	a0091c0126 a0091c0126	a0091c0126t0002 a0091c0126t0002	a0091c0126t0002g0196 a0091c0126t0002g0196	1	354	0.0028	c.125 others(4): Show c.1254G>T	p.Arg others(6): Show p.Arg418Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1391/18335	1254/17388	418/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954980	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2	a0070 a0072 a0076 a0070 a0072 a0076	a0070c0045 a0072c0044 a0076c0046 a0070c0045 a0072c0044 a0076c0046	a0070c0045t0003 a0072c0044t0003 a0076c0046t0003 a0070c0045t0003 a0072c0044t0003 a0076c0046t0003	a0070c0045t0003g0130 a0072c0044t0003g0109 a0076c0046t0003g0110 a0070c0045t0003g0130 a0072c0044t0003g0109 a0076c0046t0003g0110	3	354	0.0085	c.628 others(3): Show c.628G>A	p.Gly others(6): Show p.Gly210Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	6/7	765/18335	628/17388	210/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104956635	G G	C C	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0071 a0071	a0071c0148 a0071c0148	a0071c0148t0002 a0071c0148t0002	a0071c0148t0002g0083 a0071c0148t0002g0083	1	354	0.0028	c.268 others(3): Show c.268C>G	p.Arg others(5): Show p.Arg90Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	4/7	405/18335	268/17388	90/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104956685	T T	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0104 a0104	a0104c0149 a0104c0149	a0104c0149t0002 a0104c0149t0002	a0104c0149t0002g0185 a0104c0149t0002g0185	1	354	0.0028	c.218 others(3): Show c.218A>T	p.Asp others(5): Show p.Asp73Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	4/7	355/18335	218/17388	73/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104957472	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01109.hp2 HG03704.hp1 HG00735.hp2 HG01109.hp2 HG03704.hp1	a0019 a0019	a0019c0042 a0019c0150 a0019c0042 a0019c0150	a0019c0042t0002 a0019c0150t0002 a0019c0042t0002 a0019c0150t0002	a0019c0042t0002g0019 a0019c0150t0002g0072 a0019c0042t0002g0019 a0019c0150t0002g0072	3	354	0.0085	c.151 others(3): Show c.151C>T	p.Arg others(5): Show p.Arg51Trp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	3/7	288/18335	151/17388	51/5795	chr14	TogoVar
AHNAK_chr11_62510902_62551806	62516997	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0014 a0014	a0014c0049 a0014c0050 a0014c0049 a0014c0050	a0014c0049t0004 a0014c0050t0001 a0014c0049t0004 a0014c0050t0001	a0014c0049t0004g0096 a0014c0050t0001g0078 a0014c0049t0004g0096 a0014c0050t0001g0078	2	184	0.0109	c.174 others(5): Show c.17420C>T	p.Ser others(7): Show p.Ser5807Phe	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17666/18761	17420/17673	5807/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517325	C C	T T	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0031 a0031	a0031c0030 a0031c0030	a0031c0030t0001 a0031c0030t0001	a0031c0030t0001g0093 a0031c0030t0001g0093	1	184	0.0054	c.170 others(5): Show c.17092G>A	p.Gly others(7): Show p.Gly5698Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17338/18761	17092/17673	5698/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517596	G G	C C	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0001 a0020c0034t0001	a0020c0034t0001g0053 a0020c0034t0001g0053	1	184	0.0054	c.168 others(5): Show c.16821C>G	p.Asn others(7): Show p.Asn5607Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17067/18761	16821/17673	5607/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517813	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0028 a0028	a0028c0041 a0028c0041	a0028c0041t0001 a0028c0041t0001	a0028c0041t0001g0083 a0028c0041t0001g0083	1	184	0.0054	c.166 others(5): Show c.16604A>G	p.His others(7): Show p.His5535Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16850/18761	16604/17673	5535/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517969	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(13): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0021 a0002c0052 others(1): Show a0002c0003 a0002c0021 a0002c0052 a0002c0053	a0002c0003t0001 a0002c0021t0001 a0002c0052t0001 others(1): Show a0002c0003t0001 a0002c0021t0001 a0002c0052t0001 a0002c0053t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(5): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0021t0001g0027 a0002c0052t0001g0052 a0002c0053t0001g0095	16	184	0.0870	c.164 others(5): Show c.16448T>C	p.Ile others(7): Show p.Ile5483Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16694/18761	16448/17673	5483/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518192	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG03225.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG03225.hp2 NA18522.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0007 a0002c0012t0001g0007	4	184	0.0217	c.162 others(5): Show c.16225C>T	p.Pro others(7): Show p.Pro5409Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16471/18761	16225/17673	5409/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518249	G G	T T	missense_variant missense_variant	MODERATE	HG03710.hp1 NA18942.hp1 NA18944.hp1 others(2): Show HG03710.hp1 NA18942.hp1 NA18944.hp1 NA19063.hp2 NA19085.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0008 a0007c0010t0001g0074 a0007c0010t0001g0008 a0007c0010t0001g0074	5	184	0.0272	c.161 others(5): Show c.16168C>A	p.Pro others(7): Show p.Pro5390Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16414/18761	16168/17673	5390/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518572	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02257.hp1 HG02615.hp1 others(3): Show HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02630.hp1 HG03041.hp2 HG03486.hp2	a0006 a0021 a0006 a0021	a0006c0009 a0021c0032 a0006c0009 a0021c0032	a0006c0009t0001 a0021c0032t0001 a0006c0009t0001 a0021c0032t0001	a0006c0009t0001g0004 a0021c0032t0001g0028 a0006c0009t0001g0004 a0021c0032t0001g0028	6	184	0.0326	c.158 others(5): Show c.15845G>T	p.Gly others(7): Show p.Gly5282Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16091/18761	15845/17673	5282/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62519421	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0001 a0016c0039t0001	a0016c0039t0001g0039 a0016c0039t0001g0039	1	184	0.0054	c.149 others(5): Show c.14996C>T	p.Thr others(7): Show p.Thr4999Ile	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	15242/18761	14996/17673	4999/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520259	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0028 a0021c0032t0001g0028	1	184	0.0054	c.141 others(5): Show c.14158A>G	p.Lys others(7): Show p.Lys4720Glu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14404/18761	14158/17673	4720/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520510	A A	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0050 a0014c0050	a0014c0050t0001 a0014c0050t0001	a0014c0050t0001g0078 a0014c0050t0001g0078	1	184	0.0054	c.139 others(5): Show c.13907T>C	p.Ile others(7): Show p.Ile4636Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14153/18761	13907/17673	4636/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520593	C C	G G	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03491.hp2	a0029 a0029	a0029c0038 a0029c0038	a0029c0038t0001 a0029c0038t0001	a0029c0038t0001g0071 a0029c0038t0001g0071	1	184	0.0054	c.138 others(5): Show c.13824G>C	p.Lys others(7): Show p.Lys4608Asn	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14070/18761	13824/17673	4608/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521177	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00558.hp2 HG01496.hp1 others(4): Show HG00423.hp1 HG00558.hp2 HG01496.hp1 HG02135.hp2 NA18747.hp2 NA19005.hp2 NA19065.hp2	a0003 a0003	a0003c0007 a0003c0023 a0003c0007 a0003c0023	a0003c0007t0001 a0003c0023t0009 a0003c0007t0001 a0003c0023t0009	a0003c0007t0001g0006 a0003c0007t0001g0048 a0003c0023t0009g0100 a0003c0007t0001g0006 a0003c0007t0001g0048 a0003c0023t0009g0100	7	184	0.0380	c.132 others(5): Show c.13240C>G	p.Leu others(7): Show p.Leu4414Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	13486/18761	13240/17673	4414/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521506	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 NA19240.hp2 HG02145.hp1 NA19240.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0022 a0012c0017t0001g0022	2	184	0.0109	c.129 others(5): Show c.12911A>G	p.Asp others(7): Show p.Asp4304Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	13157/18761	12911/17673	4304/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521801	G G	A A	missense_variant missense_variant	MODERATE	NA18970.hp2 NA18970.hp2	a0032 a0032	a0032c0040 a0032c0040	a0032c0040t0001 a0032c0040t0001	a0032c0040t0001g0062 a0032c0040t0001g0062	1	184	0.0054	c.126 others(5): Show c.12616C>T	p.Pro others(7): Show p.Pro4206Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12862/18761	12616/17673	4206/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62522267	A A	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0068 a0018c0029t0001g0068	1	184	0.0054	c.121 others(5): Show c.12150T>A	p.Asp others(7): Show p.Asp4050Glu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12396/18761	12150/17673	4050/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62522698	A A	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02257.hp1 HG02615.hp1 others(3): Show HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02630.hp1 HG03041.hp2 HG03486.hp2	a0006 a0021 a0006 a0021	a0006c0009 a0021c0032 a0006c0009 a0021c0032	a0006c0009t0001 a0021c0032t0001 a0006c0009t0001 a0021c0032t0001	a0006c0009t0001g0004 a0021c0032t0001g0028 a0006c0009t0001g0004 a0021c0032t0001g0028	6	184	0.0326	c.117 others(5): Show c.11719T>G	p.Leu others(7): Show p.Leu3907Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11965/18761	11719/17673	3907/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523247	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(17): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0025 a0002 a0014 a0025	a0002c0003 a0002c0021 a0002c0051 others(5): Show a0002c0003 a0002c0021 a0002c0051 a0002c0052 a0002c0053 a0014c0049 a0014c0050 a0025c0031	a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 others(5): Show a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0014c0049t0004 a0014c0050t0001 a0025c0031t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(9): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0021t0001g0027 a0002c0051t0001g0031 a0002c0052t0001g0052 a0002c0053t0001g0095 a0014c0049t0004g0096 a0014c0050t0001g0078 a0025c0031t0001g0091	20	184	0.1087	c.111 others(5): Show c.11170T>C	p.Ser others(7): Show p.Ser3724Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11416/18761	11170/17673	3724/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523450	C C	T T	missense_variant missense_variant	MODERATE	HG02738.hp1 HG02738.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0089 a0024c0037t0001g0089	1	184	0.0054	c.109 others(5): Show c.10967G>A	p.Gly others(7): Show p.Gly3656Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11213/18761	10967/17673	3656/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523466	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00673.hp2 HG02083.hp2 HG00609.hp1 HG00673.hp2 HG02083.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0012 a0008c0013t0001g0012	3	184	0.0163	c.109 others(5): Show c.10951G>C	p.Asp others(7): Show p.Asp3651His	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11197/18761	10951/17673	3651/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523507	T T	C C	missense_variant missense_variant	MODERATE	HG03710.hp1 NA18942.hp1 NA18944.hp1 others(2): Show HG03710.hp1 NA18942.hp1 NA18944.hp1 NA19063.hp2 NA19085.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0008 a0007c0010t0001g0074 a0007c0010t0001g0008 a0007c0010t0001g0074	5	184	0.0272	c.109 others(5): Show c.10910A>G	p.Asn others(7): Show p.Asn3637Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11156/18761	10910/17673	3637/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523657	T T	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02886.hp1 HG03041.hp1 others(1): Show HG01109.hp1 HG02886.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0025 a0002 a0014 a0025	a0002c0051 a0014c0049 a0014c0050 others(1): Show a0002c0051 a0014c0049 a0014c0050 a0025c0031	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 others(1): Show a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0025c0031t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 others(1): Show a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0025c0031t0001g0091	4	184	0.0217	c.107 others(5): Show c.10760A>G	p.Asn others(7): Show p.Asn3587Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11006/18761	10760/17673	3587/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523828	T T	C C	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0001 a0020c0034t0001	a0020c0034t0001g0053 a0020c0034t0001g0053	1	184	0.0054	c.105 others(5): Show c.10589A>G	p.Lys others(7): Show p.Lys3530Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	10835/18761	10589/17673	3530/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524113	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02886.hp1 HG01109.hp1 HG02886.hp1	a0002 a0025 a0002 a0025	a0002c0051 a0025c0031 a0002c0051 a0025c0031	a0002c0051t0001 a0025c0031t0001 a0002c0051t0001 a0025c0031t0001	a0002c0051t0001g0031 a0025c0031t0001g0091 a0002c0051t0001g0031 a0025c0031t0001g0091	2	184	0.0109	c.103 others(5): Show c.10304T>C	p.Ile others(7): Show p.Ile3435Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	10550/18761	10304/17673	3435/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524284	A A	G G	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00735.hp1 HG01070.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0014 a0009c0015t0001g0014	3	184	0.0163	c.101 others(5): Show c.10133T>C	p.Ile others(7): Show p.Ile3378Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	10379/18761	10133/17673	3378/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524440	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0005 a0002c0054t0005	a0002c0054t0005g0030 a0002c0054t0005g0030	1	184	0.0054	c.997 others(4): Show c.9977G>A	p.Ser others(7): Show p.Ser3326Asn	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	10223/18761	9977/17673	3326/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524531	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0050 a0014c0050	a0014c0050t0001 a0014c0050t0001	a0014c0050t0001g0078 a0014c0050t0001g0078	1	184	0.0054	c.988 others(4): Show c.9886C>T	p.Pro others(7): Show p.Pro3296Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	10132/18761	9886/17673	3296/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524756	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0026 a0026	a0026c0048 a0026c0048	a0026c0048t0001 a0026c0048t0001	a0026c0048t0001g0075 a0026c0048t0001g0075	1	184	0.0054	c.966 others(4): Show c.9661A>G	p.Met others(7): Show p.Met3221Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9907/18761	9661/17673	3221/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524849	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG03098.hp2 HG02647.hp1 HG03098.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0027 a0002c0021t0001g0027	2	184	0.0109	c.956 others(4): Show c.9568G>A	p.Val others(7): Show p.Val3190Ile	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9814/18761	9568/17673	3190/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62525391	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0081 a0023c0035t0001g0081	1	184	0.0054	c.902 others(4): Show c.9026C>T	p.Pro others(7): Show p.Pro3009Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9272/18761	9026/17673	3009/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62525508	A A	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02886.hp1 HG03041.hp1 others(1): Show HG01109.hp1 HG02886.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0025 a0002 a0014 a0025	a0002c0051 a0014c0049 a0014c0050 others(1): Show a0002c0051 a0014c0049 a0014c0050 a0025c0031	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 others(1): Show a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0025c0031t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 others(1): Show a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0025c0031t0001g0091	4	184	0.0217	c.890 others(4): Show c.8909T>G	p.Leu others(7): Show p.Leu2970Trp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9155/18761	8909/17673	2970/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526000	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0014c0049 a0014c0050 a0002c0051 a0014c0049 a0014c0050	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0002c0051t0001 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078	3	184	0.0163	c.841 others(4): Show c.8417G>A	p.Cys others(7): Show p.Cys2806Tyr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8663/18761	8417/17673	2806/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526441	T T	G G	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0034 a0034	a0034c0024 a0034c0024	a0034c0024t0001 a0034c0024t0001	a0034c0024t0001g0092 a0034c0024t0001g0092	1	184	0.0054	c.797 others(4): Show c.7976A>C	p.Asp others(7): Show p.Asp2659Ala	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8222/18761	7976/17673	2659/5890	chr11	TogoVar

Search by Variant

Search

Search Results