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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	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	a0099 a0100 a0101 others(2): Show a0099 a0100 a0101 a0102 a0103	a0099c0061 a0100c0062 a0101c0063 others(2): Show a0099c0061 a0100c0062 a0101c0063 a0102c0064 a0103c0065	a0099c0061t0001 a0100c0062t0002 a0101c0063t0002 others(2): Show a0099c0061t0001 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003	a0099c0061t0001g0091 a0100c0062t0002g0154 a0101c0063t0002g0155 others(2): Show a0099c0061t0001g0091 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156	5	356	0.0140	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	a0052 a0052	a0052c0208 a0052c0209 a0052c0208 a0052c0209	a0052c0208t0002 a0052c0209t0002 a0052c0208t0002 a0052c0209t0002	a0052c0208t0002g0231 a0052c0209t0002g0232 a0052c0208t0002g0231 a0052c0209t0002g0232	2	356	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	a0004 a0006 a0009 others(56): Show a0004 a0006 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0026 a0027 a0028 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(63): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0065c0203 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(63): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0065c0203t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(78): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0065c0203t0002g0201 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0207c0206t0002g0223 a0211c0247t0002g0206	93	356	0.2612	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	a0054 a0054	a0054c0059 a0054c0059	a0054c0059t0001 a0054c0059t0001	a0054c0059t0001g0119 a0054c0059t0001g0119	1	356	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	a0207 a0207	a0207c0206 a0207c0206	a0207c0206t0002 a0207c0206t0002	a0207c0206t0002g0223 a0207c0206t0002g0223	1	356	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	a0208 a0209 a0210 a0208 a0209 a0210	a0208c0056 a0209c0054 a0210c0055 a0208c0056 a0209c0054 a0210c0055	a0208c0056t0003 a0209c0054t0003 a0210c0055t0003 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003	a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114	3	356	0.0084	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	a0053 a0053	a0053c0246 a0053c0246	a0053c0246t0002 a0053c0246t0002	a0053c0246t0002g0074 a0053c0246t0002g0074	1	356	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	a0211 a0211	a0211c0247 a0211c0247	a0211c0247t0002 a0211c0247t0002	a0211c0247t0002g0206 a0211c0247t0002g0206	1	356	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	a0025 a0025	a0025c0052 a0025c0248 a0025c0052 a0025c0248	a0025c0052t0002 a0025c0248t0002 a0025c0052t0002 a0025c0248t0002	a0025c0052t0002g0014 a0025c0248t0002g0063 a0025c0052t0002g0014 a0025c0248t0002g0063	3	356	0.0084	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	a0020 a0021 a0020 a0021	a0020c0053 a0021c0052 a0020c0053 a0021c0052	a0020c0053t0001 a0021c0052t0004 a0020c0053t0001 a0021c0052t0004	a0020c0053t0001g0081 a0021c0052t0004g0099 a0020c0053t0001g0081 a0021c0052t0004g0099	2	186	0.0108	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	a0032 a0032	a0032c0032 a0032c0032	a0032c0032t0001 a0032c0032t0001	a0032c0032t0001g0096 a0032c0032t0001g0096	1	186	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	a0038 a0038	a0038c0036 a0038c0036	a0038c0036t0001 a0038c0036t0001	a0038c0036t0001g0055 a0038c0036t0001g0055	1	186	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	a0043 a0043	a0043c0044 a0043c0044	a0043c0044t0001 a0043c0044t0001	a0043c0044t0001g0086 a0043c0044t0001g0086	1	186	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 a0014 a0002 a0014	a0002c0003 a0002c0056 a0002c0057 others(1): Show a0002c0003 a0002c0056 a0002c0057 a0014c0023	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(1): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0014c0023t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(5): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0014c0023t0001g0028	16	186	0.0860	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	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0007 a0010c0012t0001g0007	4	186	0.0215	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 a0007c0010t0001g0077 a0007c0010t0001g0008 a0007c0010t0001g0077	5	186	0.0269	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	a0008 a0037 a0008 a0037	a0008c0009 a0037c0034 a0008c0009 a0037c0034	a0008c0009t0001 a0037c0034t0001 a0008c0009t0001 a0037c0034t0001	a0008c0009t0001g0004 a0037c0034t0001g0029 a0008c0009t0001g0004 a0037c0034t0001g0029	6	186	0.0323	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	62518693	C C	G G	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0033 a0033	a0033c0041 a0033c0041	a0033c0041t0001 a0033c0041t0001	a0033c0041t0001g0090 a0033c0041t0001g0090	1	186	0.0054	c.157 others(5): Show c.15724G>C	p.Gly others(7): Show p.Gly5242Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	15970/18761	15724/17673	5242/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62519421	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0001 a0031c0042t0001	a0031c0042t0001g0041 a0031c0042t0001g0041	1	186	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	a0037 a0037	a0037c0034 a0037c0034	a0037c0034t0001 a0037c0034t0001	a0037c0034t0001g0029 a0037c0034t0001g0029	1	186	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	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0001 a0020c0053t0001	a0020c0053t0001g0081 a0020c0053t0001g0081	1	186	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	a0034 a0034	a0034c0040 a0034c0040	a0034c0040t0001 a0034c0040t0001	a0034c0040t0001g0074 a0034c0040t0001g0074	1	186	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	a0004 a0004	a0004c0007 a0004c0025 a0004c0007 a0004c0025	a0004c0007t0001 a0004c0025t0009 a0004c0007t0001 a0004c0025t0009	a0004c0007t0001g0005 a0004c0007t0001g0050 a0004c0025t0009g0103 a0004c0007t0001g0005 a0004c0007t0001g0050 a0004c0025t0009g0103	7	186	0.0376	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	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0022 a0016c0017t0001g0022	2	186	0.0108	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	a0035 a0035	a0035c0043 a0035c0043	a0035c0043t0001 a0035c0043t0001	a0035c0043t0001g0064 a0035c0043t0001g0064	1	186	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	a0036 a0036	a0036c0031 a0036c0031	a0036c0031t0001 a0036c0031t0001	a0036c0031t0001g0070 a0036c0031t0001g0070	1	186	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	a0008 a0037 a0008 a0037	a0008c0009 a0037c0034 a0008c0009 a0037c0034	a0008c0009t0001 a0037c0034t0001 a0008c0009t0001 a0037c0034t0001	a0008c0009t0001g0004 a0037c0034t0001g0029 a0008c0009t0001g0004 a0037c0034t0001g0029	6	186	0.0323	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 a0020 others(3): Show a0002 a0014 a0020 a0021 a0022 a0041	a0002c0003 a0002c0056 a0002c0057 others(5): Show a0002c0003 a0002c0056 a0002c0057 a0014c0023 a0020c0053 a0021c0052 a0022c0054 a0041c0033	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(5): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0014c0023t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0041c0033t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(9): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0014c0023t0001g0028 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0041c0033t0001g0094	20	186	0.1075	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	a0030 a0030	a0030c0039 a0030c0039	a0030c0039t0001 a0030c0039t0001	a0030c0039t0001g0092 a0030c0039t0001g0092	1	186	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	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0012 a0012c0013t0001g0012	3	186	0.0161	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 a0007c0010t0001g0077 a0007c0010t0001g0008 a0007c0010t0001g0077	5	186	0.0269	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	a0020 a0021 a0022 others(1): Show a0020 a0021 a0022 a0041	a0020c0053 a0021c0052 a0022c0054 others(1): Show a0020c0053 a0021c0052 a0022c0054 a0041c0033	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 others(1): Show a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0041c0033t0001	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 others(1): Show a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0041c0033t0001g0094	4	186	0.0215	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	a0038 a0038	a0038c0036 a0038c0036	a0038c0036t0001 a0038c0036t0001	a0038c0036t0001g0055 a0038c0036t0001g0055	1	186	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	a0022 a0041 a0022 a0041	a0022c0054 a0041c0033 a0022c0054 a0041c0033	a0022c0054t0001 a0041c0033t0001 a0022c0054t0001 a0041c0033t0001	a0022c0054t0001g0032 a0041c0033t0001g0094 a0022c0054t0001g0032 a0041c0033t0001g0094	2	186	0.0108	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	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0014 a0013c0015t0001g0014	3	186	0.0161	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	a0023 a0023	a0023c0058 a0023c0058	a0023c0058t0005 a0023c0058t0005	a0023c0058t0005g0031 a0023c0058t0005g0031	1	186	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	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0001 a0020c0053t0001	a0020c0053t0001g0081 a0020c0053t0001g0081	1	186	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	a0039 a0039	a0039c0051 a0039c0051	a0039c0051t0001 a0039c0051t0001	a0039c0051t0001g0078 a0039c0051t0001g0078	1	186	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	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0028 a0014c0023t0001g0028	2	186	0.0108	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	a0029 a0029	a0029c0037 a0029c0037	a0029c0037t0001 a0029c0037t0001	a0029c0037t0001g0084 a0029c0037t0001g0084	1	186	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	62525410	G G	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(42): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046	a0001c0001 a0001c0002 a0001c0005 others(54): Show a0001c0001 a0001c0002 a0001c0005 a0001c0018 a0001c0019 a0001c0021 a0001c0024 a0001c0029 a0001c0035 a0002c0003 a0002c0056 a0002c0057 a0003c0004 a0004c0007 a0004c0025 a0005c0006 a0006c0008 a0007c0010 a0008c0009 a0009c0011 a0010c0012 a0011c0014 a0012c0013 a0013c0015 a0014c0023 a0015c0020 a0016c0017 a0017c0022 a0018c0016 a0019c0047 a0019c0048 a0020c0053 a0021c0052 a0022c0054 a0023c0058 a0024c0055 a0025c0027 a0026c0046 a0027c0030 a0028c0026 a0029c0037 a0030c0039 a0031c0042 a0032c0032 a0033c0041 a0034c0040 a0035c0043 a0036c0031 a0037c0034 a0038c0036 a0039c0051 a0041c0033 a0042c0028 a0043c0044 a0044c0045 a0045c0049 a0046c0050	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(59): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0005t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0001 a0001c0024t0001 a0001c0029t0001 a0001c0035t0001 a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0003c0004t0001 a0003c0004t0003 a0004c0007t0001 a0004c0025t0009 a0005c0006t0001 a0006c0008t0001 a0007c0010t0001 a0008c0009t0001 a0009c0011t0001 a0010c0012t0001 a0011c0014t0001 a0012c0013t0001 a0013c0015t0001 a0014c0023t0001 a0015c0020t0001 a0016c0017t0001 a0017c0022t0002 a0018c0016t0001 a0019c0047t0001 a0019c0048t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0023c0058t0005 a0024c0055t0001 a0025c0027t0001 a0026c0046t0001 a0027c0030t0001 a0028c0026t0001 a0029c0037t0001 a0030c0039t0001 a0031c0042t0001 a0032c0032t0001 a0033c0041t0001 a0034c0040t0001 a0035c0043t0001 a0036c0031t0001 a0037c0034t0001 a0038c0036t0001 a0039c0051t0001 a0041c0033t0001 a0042c0028t0001 a0043c0044t0001 a0044c0045t0001 a0045c0049t0001 a0046c0050t0001	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0053 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0006g0071 a0001c0001t0007g0072 a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0025 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0093 a0001c0002t0002g0033 a0001c0002t0002g0045 a0001c0002t0008g0075 a0001c0005t0001g0010 a0001c0005t0001g0026 a0001c0005t0001g0030 a0001c0018t0001g0101 a0001c0018t0001g0102 a0001c0019t0001g0017 a0001c0021t0001g0024 a0001c0024t0001g0065 a0001c0029t0001g0037 a0001c0035t0001g0040 a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0036 a0003c0004t0003g0035 a0003c0004t0003g0052 a0004c0007t0001g0005 a0004c0007t0001g0050 a0004c0025t0009g0103 a0005c0006t0001g0009 a0005c0006t0001g0023 a0005c0006t0001g0091 a0006c0008t0001g0015 a0006c0008t0001g0020 a0006c0008t0001g0057 a0007c0010t0001g0008 a0007c0010t0001g0077 a0008c0009t0001g0004 a0009c0011t0001g0006 a0010c0012t0001g0007 a0011c0014t0001g0039 a0011c0014t0001g0069 a0011c0014t0001g0082 a0012c0013t0001g0012 a0013c0015t0001g0014 a0014c0023t0001g0028 a0015c0020t0001g0079 a0015c0020t0001g0087 a0016c0017t0001g0022 a0017c0022t0002g0018 a0018c0016t0001g0021 a0019c0047t0001g0042 a0019c0048t0001g0043 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0023c0058t0005g0031 a0024c0055t0001g0034 a0025c0027t0001g0067 a0026c0046t0001g0076 a0027c0030t0001g0038 a0028c0026t0001g0095 a0029c0037t0001g0084 a0030c0039t0001g0092 a0031c0042t0001g0041 a0032c0032t0001g0096 a0033c0041t0001g0090 a0034c0040t0001g0074 a0035c0043t0001g0064 a0036c0031t0001g0070 a0037c0034t0001g0029 a0038c0036t0001g0055 a0039c0051t0001g0078 a0041c0033t0001g0094 a0042c0028t0001g0068 a0043c0044t0001g0086 a0044c0045t0001g0062 a0045c0049t0001g0044 a0046c0050t0001g0058	185	186	0.9946	c.900 others(4): Show c.9007C>A	p.Gln others(7): Show p.Gln3003Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9253/18761	9007/17673	3003/5890	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	a0020 a0021 a0022 others(1): Show a0020 a0021 a0022 a0041	a0020c0053 a0021c0052 a0022c0054 others(1): Show a0020c0053 a0021c0052 a0022c0054 a0041c0033	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 others(1): Show a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0041c0033t0001	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 others(1): Show a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0041c0033t0001g0094	4	186	0.0215	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	a0020 a0021 a0022 a0020 a0021 a0022	a0020c0053 a0021c0052 a0022c0054 a0020c0053 a0021c0052 a0022c0054	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032	3	186	0.0161	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	a0028 a0028	a0028c0026 a0028c0026	a0028c0026t0001 a0028c0026t0001	a0028c0026t0001g0095 a0028c0026t0001g0095	1	186	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
AHNAK_chr11_62510902_62551806	62526444	C C	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0020 a0021 a0022 a0020 a0021 a0022	a0020c0053 a0021c0052 a0022c0054 a0020c0053 a0021c0052 a0022c0054	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032	3	186	0.0161	c.797 others(4): Show c.7973G>T	p.Gly others(7): Show p.Gly2658Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8219/18761	7973/17673	2658/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526837	C C	T T	missense_variant missense_variant	MODERATE	HG01071.hp1 HG01358.hp2 HG01361.hp1 HG01071.hp1 HG01358.hp2 HG01361.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0039 a0011c0014t0001g0069 a0011c0014t0001g0082 a0011c0014t0001g0039 a0011c0014t0001g0069 a0011c0014t0001g0082	3	186	0.0161	c.758 others(4): Show c.7580G>A	p.Gly others(7): Show p.Gly2527Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7826/18761	7580/17673	2527/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527101	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02572.hp1 HG02622.hp2 others(16): Show HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0003 a0009 a0010 others(1): Show a0003 a0009 a0010 a0024	a0003c0004 a0009c0011 a0010c0012 others(1): Show a0003c0004 a0009c0011 a0010c0012 a0024c0055	a0003c0004t0001 a0003c0004t0003 a0009c0011t0001 others(2): Show a0003c0004t0001 a0003c0004t0003 a0009c0011t0001 a0010c0012t0001 a0024c0055t0001	a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0036 others(5): Show a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0036 a0003c0004t0003g0035 a0003c0004t0003g0052 a0009c0011t0001g0006 a0010c0012t0001g0007 a0024c0055t0001g0034	19	186	0.1022	c.731 others(4): Show c.7316C>T	p.Pro others(7): Show p.Pro2439Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7562/18761	7316/17673	2439/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527116	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0001 a0027c0030t0001	a0027c0030t0001g0038 a0027c0030t0001g0038	1	186	0.0054	c.730 others(4): Show c.7301G>A	p.Gly others(7): Show p.Gly2434Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7547/18761	7301/17673	2434/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527519	A A	G G	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18983.hp1	a0042 a0042	a0042c0028 a0042c0028	a0042c0028t0001 a0042c0028t0001	a0042c0028t0001g0068 a0042c0028t0001g0068	1	186	0.0054	c.689 others(4): Show c.6898T>C	p.Phe others(7): Show p.Phe2300Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7144/18761	6898/17673	2300/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527677	T T	G G	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01496.hp2 HG02809.hp1 others(5): Show HG01243.hp2 HG01496.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp1 HG03453.hp2 HG03486.hp1 NA19240.hp1	a0005 a0043 a0005 a0043	a0005c0006 a0043c0044 a0005c0006 a0043c0044	a0005c0006t0001 a0043c0044t0001 a0005c0006t0001 a0043c0044t0001	a0005c0006t0001g0009 a0005c0006t0001g0023 a0005c0006t0001g0091 others(1): Show a0005c0006t0001g0009 a0005c0006t0001g0023 a0005c0006t0001g0091 a0043c0044t0001g0086	8	186	0.0430	c.674 others(4): Show c.6740A>C	p.Lys others(7): Show p.Lys2247Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6986/18761	6740/17673	2247/5890	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)