Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AHNAK2_chr14_104932253_104983374	104953023	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 NA19030.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1	a0028 a0067 a0028 a0067	a0028c0019 a0067c0058 a0028c0019 a0067c0058	a0028c0019t0009 a0067c0058t0002 a0028c0019t0009 a0067c0058t0002	a0028c0019t0009g0049 a0028c0019t0009g0050 a0067c0058t0002g0302 a0028c0019t0009g0049 a0028c0019t0009g0050 a0067c0058t0002g0302	3	356	0.0084	c.242 others(4): Show c.2428C>T	p.Leu others(6): Show p.Leu810Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2565/18335	2428/17388	810/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953033	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0075 a0076 a0075 a0076	a0075c0164 a0076c0163 a0075c0164 a0076c0163	a0075c0164t0001 a0076c0163t0001 a0075c0164t0001 a0076c0163t0001	a0075c0164t0001g0301 a0076c0163t0001g0300 a0075c0164t0001g0301 a0076c0163t0001g0300	2	356	0.0056	c.241 others(4): Show c.2418G>A	p.Pro others(6): Show p.Pro806Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2555/18335	2418/17388	806/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953222	A A	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.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 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.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 NA19030.hp2 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 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 a0100 a0101 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 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 a0100c0062 a0101c0063 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 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 a0100c0062t0002 a0101c0063t0002 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 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 a0100c0062t0002g0154 a0101c0063t0002g0155 a0207c0206t0002g0223 a0211c0247t0002g0206	93	356	0.2612	c.222 others(4): Show c.2229T>C	p.Leu others(6): Show p.Leu743Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2366/18335	2229/17388	743/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953231	A A	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.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 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.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 NA19030.hp2 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 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 a0100 a0101 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 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 a0100c0062 a0101c0063 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 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 a0100c0062t0002 a0101c0063t0002 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 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 a0100c0062t0002g0154 a0101c0063t0002g0155 a0207c0206t0002g0223 a0211c0247t0002g0206	93	356	0.2612	c.222 others(4): Show c.2220T>C	p.Asp others(6): Show p.Asp740Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2357/18335	2220/17388	740/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953387	T T	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp1 NA18940.hp2 HG02109.hp1 NA18940.hp2	a0021 a0055 a0021 a0055	a0021c0244 a0055c0205 a0021c0244 a0055c0205	a0021c0244t0002 a0055c0205t0002 a0021c0244t0002 a0055c0205t0002	a0021c0244t0002g0261 a0055c0205t0002g0069 a0021c0244t0002g0261 a0055c0205t0002g0069	2	356	0.0056	c.206 others(4): Show c.2064A>T	p.Ser others(6): Show p.Ser688Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2201/18335	2064/17388	688/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953390	C C	T T	synonymous_variant synonymous_variant	LOW	HG01346.hp2 HG01346.hp2	a0005 a0005	a0005c0067 a0005c0067	a0005c0067t0001 a0005c0067t0001	a0005c0067t0001g0129 a0005c0067t0001g0129	1	356	0.0028	c.206 others(4): Show c.2061G>A	p.Ala others(6): Show p.Ala687Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2198/18335	2061/17388	687/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953396	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.205 others(4): Show c.2055C>T	p.Phe others(6): Show p.Phe685Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2192/18335	2055/17388	685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953402	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0055 a0055	a0055c0205 a0055c0205	a0055c0205t0002 a0055c0205t0002	a0055c0205t0002g0069 a0055c0205t0002g0069	1	356	0.0028	c.204 others(4): Show c.2049A>G	p.Pro others(6): Show p.Pro683Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2186/18335	2049/17388	683/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953672	C C	T T	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp1	a0181 a0181	a0181c0060 a0181c0060	a0181c0060t0001 a0181c0060t0001	a0181c0060t0001g0272 a0181c0060t0001g0272	1	356	0.0028	c.177 others(4): Show c.1779G>A	p.Ser others(6): Show p.Ser593Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1916/18335	1779/17388	593/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953834	C C	G G	synonymous_variant synonymous_variant	LOW	HG02486.hp2 HG02486.hp2	a0196 a0196	a0196c0207 a0196c0207	a0196c0207t0002 a0196c0207t0002	a0196c0207t0002g0153 a0196c0207t0002g0153	1	356	0.0028	c.161 others(4): Show c.1617G>C	p.Pro others(6): Show p.Pro539Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1754/18335	1617/17388	539/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954590	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(82): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0021 others(44): Show a0001 a0011 a0021 a0022 a0025 a0028 a0029 a0030 a0031 a0032 a0034 a0044 a0051 a0052 a0067 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0125 a0126 a0127 a0128 a0131 a0132 a0144 a0169 a0195 a0196 a0197 a0203 a0205	a0001c0001 a0001c0003 a0001c0045 others(52): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0028c0019 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0044c0049 a0051c0051 a0052c0208 a0052c0209 a0067c0058 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0131c0235 a0132c0236 a0144c0238 a0169c0237 a0195c0243 a0196c0207 a0197c0057 a0203c0210 a0205c0245	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(52): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0028c0019t0009 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0044c0049t0003 a0051c0051t0001 a0052c0208t0002 a0052c0209t0002 a0067c0058t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0131c0235t0003 a0132c0236t0003 a0144c0238t0003 a0169c0237t0003 a0195c0243t0003 a0196c0207t0002 a0197c0057t0001 a0203c0210t0003 a0205c0245t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(64): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0011c0012t0002g0006 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0028c0019t0009g0049 a0028c0019t0009g0050 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0052c0208t0002g0231 a0052c0209t0002g0232 a0067c0058t0002g0302 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0131c0235t0003g0132 a0132c0236t0003g0147 a0144c0238t0003g0070 a0169c0237t0003g0139 a0195c0243t0003g0148 a0196c0207t0002g0153 a0197c0057t0001g0068 a0203c0210t0003g0149 a0205c0245t0002g0067	85	356	0.2388	c.861 others(3): Show c.861T>C	p.Pro others(6): Show p.Pro287Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	998/18335	861/17388	287/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954713	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(78): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0021 others(41): Show a0001 a0011 a0021 a0022 a0025 a0029 a0030 a0031 a0032 a0034 a0044 a0051 a0052 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0125 a0126 a0127 a0128 a0131 a0132 a0144 a0169 a0195 a0196 a0203 a0205	a0001c0001 a0001c0003 a0001c0045 others(49): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0044c0049 a0051c0051 a0052c0208 a0052c0209 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0131c0235 a0132c0236 a0144c0238 a0169c0237 a0195c0243 a0196c0207 a0203c0210 a0205c0245	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(49): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0044c0049t0003 a0051c0051t0001 a0052c0208t0002 a0052c0209t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0131c0235t0003 a0132c0236t0003 a0144c0238t0003 a0169c0237t0003 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0205c0245t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(60): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0011c0012t0002g0006 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0052c0208t0002g0231 a0052c0209t0002g0232 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0131c0235t0003g0132 a0132c0236t0003g0147 a0144c0238t0003g0070 a0169c0237t0003g0139 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0205c0245t0002g0067	81	356	0.2275	c.738 others(3): Show c.738A>C	p.Pro others(6): Show p.Pro246Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	875/18335	738/17388	246/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104957491	C C	T T	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	c.132 others(3): Show c.132G>A	p.Ala others(5): Show p.Ala44Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	3/7	269/18335	132/17388	44/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104957662	A A	T T	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	c.66T others(2): Show c.66T>A	p.Arg others(5): Show p.Arg22Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	2/7	203/18335	66/17388	22/5795	chr14	TogoVar
AHNAK_chr11_62510902_62551806	62516996	A A	C C	synonymous_variant synonymous_variant	LOW	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.174 others(5): Show c.17421T>G	p.Ser others(7): Show p.Ser5807Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17667/18761	17421/17673	5807/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517299	T T	C C	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG03098.hp2 HG02647.hp1 HG03098.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0028 a0014c0023t0001g0028	2	186	0.0108	c.171 others(5): Show c.17118A>G	p.Lys others(7): Show p.Lys5706Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17364/18761	17118/17673	5706/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517320	C C	T T	synonymous_variant synonymous_variant	LOW	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0001 a0002c0056t0001	a0002c0056t0001g0054 a0002c0056t0001g0054	1	186	0.0054	c.170 others(5): Show c.17097G>A	p.Glu others(7): Show p.Glu5699Glu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17343/18761	17097/17673	5699/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517416	G G	A A	synonymous_variant synonymous_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0040 a0001c0035t0001g0040	1	186	0.0054	c.170 others(5): Show c.17001C>T	p.Thr others(7): Show p.Thr5667Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17247/18761	17001/17673	5667/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518193	C C	T T	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(16): 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 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0020 others(2): Show a0002 a0014 a0020 a0021 a0022	a0002c0003 a0002c0056 a0002c0057 others(4): Show a0002c0003 a0002c0056 a0002c0057 a0014c0023 a0020c0053 a0021c0052 a0022c0054	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(4): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0014c0023t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(8): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0014c0023t0001g0028 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032	19	186	0.1022	c.162 others(5): Show c.16224G>A	p.Leu others(7): Show p.Leu5408Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16470/18761	16224/17673	5408/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518415	G G	A A	synonymous_variant synonymous_variant	LOW	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.160 others(5): Show c.16002C>T	p.Val others(7): Show p.Val5334Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16248/18761	16002/17673	5334/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520206	G G	A A	synonymous_variant synonymous_variant	LOW	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.142 others(5): Show c.14211C>T	p.Gly others(7): Show p.Gly4737Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14457/18761	14211/17673	4737/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520356	T T	C C	synonymous_variant synonymous_variant	LOW	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.140 others(5): Show c.14061A>G	p.Lys others(7): Show p.Lys4687Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14307/18761	14061/17673	4687/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520440	C C	T T	synonymous_variant synonymous_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0040 a0001c0035t0001g0040	1	186	0.0054	c.139 others(5): Show c.13977G>A	p.Lys others(7): Show p.Lys4659Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14223/18761	13977/17673	4659/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521631	A A	G G	synonymous_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0030 a0030	a0030c0039 a0030c0039	a0030c0039t0001 a0030c0039t0001	a0030c0039t0001g0092 a0030c0039t0001g0092	1	186	0.0054	c.127 others(5): Show c.12786T>C	p.Phe others(7): Show p.Phe4262Phe	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	13032/18761	12786/17673	4262/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521937	G G	A A	synonymous_variant synonymous_variant	LOW	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.124 others(5): Show c.12480C>T	p.Gly others(7): Show p.Gly4160Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12726/18761	12480/17673	4160/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521949	G G	A A	synonymous_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0030 a0030	a0030c0039 a0030c0039	a0030c0039t0001 a0030c0039t0001	a0030c0039t0001g0092 a0030c0039t0001g0092	1	186	0.0054	c.124 others(5): Show c.12468C>T	p.Gly others(7): Show p.Gly4156Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12714/18761	12468/17673	4156/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62522036	C C	T T	synonymous_variant synonymous_variant	LOW	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.123 others(5): Show c.12381G>A	p.Pro others(7): Show p.Pro4127Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12627/18761	12381/17673	4127/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62522288	G G	A A	synonymous_variant synonymous_variant	LOW	NA18952.hp1 NA18952.hp1	a0019 a0019	a0019c0048 a0019c0048	a0019c0048t0001 a0019c0048t0001	a0019c0048t0001g0043 a0019c0048t0001g0043	1	186	0.0054	c.121 others(5): Show c.12129C>T	p.Asp others(7): Show p.Asp4043Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12375/18761	12129/17673	4043/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523158	G G	A A	synonymous_variant synonymous_variant	LOW	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0001 a0002c0057t0001	a0002c0057t0001g0098 a0002c0057t0001g0098	1	186	0.0054	c.112 others(5): Show c.11259C>T	p.Asn others(7): Show p.Asn3753Asn	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11505/18761	11259/17673	3753/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523230	C C	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp1 NA19240.hp2 HG02145.hp1 NA19240.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0022 a0016c0017t0001g0022	2	186	0.0108	c.111 others(5): Show c.11187G>A	p.Lys others(7): Show p.Lys3729Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11433/18761	11187/17673	3729/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523404	G G	A A	synonymous_variant synonymous_variant	LOW	HG03704.hp2 HG04204.hp2 HG03704.hp2 HG04204.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0017 a0001c0019t0001g0017	2	186	0.0108	c.110 others(5): Show c.11013C>T	p.Ile others(7): Show p.Ile3671Ile	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11259/18761	11013/17673	3671/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524877	G G	A A	synonymous_variant synonymous_variant	LOW	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.954 others(4): Show c.9540C>T	p.Asp others(7): Show p.Asp3180Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9786/18761	9540/17673	3180/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62525480	G G	A A	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG03540.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0101 a0001c0018t0001g0102 a0001c0018t0001g0101 a0001c0018t0001g0102	2	186	0.0108	c.893 others(4): Show c.8937C>T	p.Gly others(7): Show p.Gly2979Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9183/18761	8937/17673	2979/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526350	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(14): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG01261.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp2 NA18747.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp1 NA18983.hp1 NA18983.hp2 NA19065.hp1 NA19068.hp1 NA19085.hp2	a0001 a0006 a0026 others(3): Show a0001 a0006 a0026 a0032 a0036 a0042	a0001c0005 a0006c0008 a0026c0046 others(3): Show a0001c0005 a0006c0008 a0026c0046 a0032c0032 a0036c0031 a0042c0028	a0001c0005t0001 a0006c0008t0001 a0026c0046t0001 others(3): Show a0001c0005t0001 a0006c0008t0001 a0026c0046t0001 a0032c0032t0001 a0036c0031t0001 a0042c0028t0001	a0001c0005t0001g0010 a0001c0005t0001g0026 a0001c0005t0001g0030 others(7): Show a0001c0005t0001g0010 a0001c0005t0001g0026 a0001c0005t0001g0030 a0006c0008t0001g0015 a0006c0008t0001g0020 a0006c0008t0001g0057 a0026c0046t0001g0076 a0032c0032t0001g0096 a0036c0031t0001g0070 a0042c0028t0001g0068	17	186	0.0914	c.806 others(4): Show c.8067G>A	p.Lys others(7): Show p.Lys2689Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8313/18761	8067/17673	2689/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526476	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(47): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01891.hp2 HG01952.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18950.hp1 NA18952.hp1 NA18959.hp2 NA18970.hp2 NA19084.hp1 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0012 a0015 others(10): Show a0001 a0012 a0015 a0017 a0019 a0028 a0030 a0031 a0033 a0034 a0035 a0044 a0045	a0001c0002 a0001c0019 a0001c0029 others(13): Show a0001c0002 a0001c0019 a0001c0029 a0012c0013 a0015c0020 a0017c0022 a0019c0047 a0019c0048 a0028c0026 a0030c0039 a0031c0042 a0033c0041 a0034c0040 a0035c0043 a0044c0045 a0045c0049	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0019t0001 a0001c0029t0001 a0012c0013t0001 a0015c0020t0001 a0017c0022t0002 a0019c0047t0001 a0019c0048t0001 a0028c0026t0001 a0030c0039t0001 a0031c0042t0001 a0033c0041t0001 a0034c0040t0001 a0035c0043t0001 a0044c0045t0001 a0045c0049t0001	a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0025 others(27): Show a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0025 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0093 a0001c0002t0002g0033 a0001c0002t0002g0045 a0001c0002t0008g0075 a0001c0019t0001g0017 a0001c0029t0001g0037 a0012c0013t0001g0012 a0015c0020t0001g0079 a0015c0020t0001g0087 a0017c0022t0002g0018 a0019c0047t0001g0042 a0019c0048t0001g0043 a0028c0026t0001g0095 a0030c0039t0001g0092 a0031c0042t0001g0041 a0033c0041t0001g0090 a0034c0040t0001g0074 a0035c0043t0001g0064 a0044c0045t0001g0062 a0045c0049t0001g0044	50	186	0.2688	c.794 others(4): Show c.7941C>T	p.Ser others(7): Show p.Ser2647Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8187/18761	7941/17673	2647/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527040	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show HG01109.hp1 HG02976.hp2 HG03041.hp1 NA19043.hp2	a0020 a0021 a0022 others(1): Show a0020 a0021 a0022 a0023	a0020c0053 a0021c0052 a0022c0054 others(1): Show a0020c0053 a0021c0052 a0022c0054 a0023c0058	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 others(1): Show a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0023c0058t0005	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 others(1): Show a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0023c0058t0005g0031	4	186	0.0215	c.737 others(4): Show c.7377T>C	p.Asp others(7): Show p.Asp2459Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7623/18761	7377/17673	2459/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527301	A A	G G	synonymous_variant synonymous_variant	LOW	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0037 a0001c0029t0001g0037	1	186	0.0054	c.711 others(4): Show c.7116T>C	p.Pro others(7): Show p.Pro2372Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7362/18761	7116/17673	2372/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527799	A A	C C	synonymous_variant synonymous_variant	LOW	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.661 others(4): Show c.6618T>G	p.Val others(7): Show p.Val2206Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6864/18761	6618/17673	2206/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528276	C C	T T	synonymous_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0001 a0020c0053t0001	a0020c0053t0001g0081 a0020c0053t0001g0081	1	186	0.0054	c.614 others(4): Show c.6141G>A	p.Lys others(7): Show p.Lys2047Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6387/18761	6141/17673	2047/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528585	C C	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0024 a0001c0021t0001g0024	2	186	0.0108	c.583 others(4): Show c.5832G>T	p.Val others(7): Show p.Val1944Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6078/18761	5832/17673	1944/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529848	A A	G G	synonymous_variant synonymous_variant	LOW	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.456 others(4): Show c.4569T>C	p.Phe others(7): Show p.Phe1523Phe	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4815/18761	4569/17673	1523/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529938	A A	G G	synonymous_variant synonymous_variant	LOW	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.447 others(4): Show c.4479T>C	p.Asp others(7): Show p.Asp1493Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4725/18761	4479/17673	1493/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62531360	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0054 a0022c0054	a0022c0054t0001 a0022c0054t0001	a0022c0054t0001g0032 a0022c0054t0001g0032	1	186	0.0054	c.305 others(4): Show c.3057T>C	p.Asp others(7): Show p.Asp1019Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	3303/18761	3057/17673	1019/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62532272	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show HG01109.hp1 HG02976.hp2 HG03041.hp1 NA19043.hp2	a0020 a0021 a0022 others(1): Show a0020 a0021 a0022 a0023	a0020c0053 a0021c0052 a0022c0054 others(1): Show a0020c0053 a0021c0052 a0022c0054 a0023c0058	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 others(1): Show a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0023c0058t0005	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 others(1): Show a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0023c0058t0005g0031	4	186	0.0215	c.214 others(4): Show c.2145T>C	p.Tyr others(6): Show p.Tyr715Tyr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	2391/18761	2145/17673	715/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62532473	A A	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(35): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0002 a0003 a0009 others(6): Show a0002 a0003 a0009 a0010 a0014 a0020 a0021 a0022 a0024	a0002c0003 a0002c0056 a0002c0057 others(8): Show a0002c0003 a0002c0056 a0002c0057 a0003c0004 a0009c0011 a0010c0012 a0014c0023 a0020c0053 a0021c0052 a0022c0054 a0024c0055	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(9): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0003c0004t0001 a0003c0004t0003 a0009c0011t0001 a0010c0012t0001 a0014c0023t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0024c0055t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(16): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0036 a0003c0004t0003g0035 a0003c0004t0003g0052 a0009c0011t0001g0006 a0010c0012t0001g0007 a0014c0023t0001g0028 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0024c0055t0001g0034	38	186	0.2043	c.194 others(4): Show c.1944T>G	p.Val others(6): Show p.Val648Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	2190/18761	1944/17673	648/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533241	C C	T T	synonymous_variant synonymous_variant	LOW	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.117 others(4): Show c.1176G>A	p.Gln others(6): Show p.Gln392Gln	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1422/18761	1176/17673	392/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533421	A A	G G	synonymous_variant synonymous_variant	LOW	NA19084.hp1 NA19084.hp1	a0028 a0028	a0028c0026 a0028c0026	a0028c0026t0001 a0028c0026t0001	a0028c0026t0001g0095 a0028c0026t0001g0095	1	186	0.0054	c.996 others(3): Show c.996T>C	p.Ser others(6): Show p.Ser332Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1242/18761	996/17673	332/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533496	G G	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0039 a0039	a0039c0051 a0039c0051	a0039c0051t0001 a0039c0051t0001	a0039c0051t0001g0078 a0039c0051t0001g0078	1	186	0.0054	c.921 others(3): Show c.921C>T	p.Pro others(6): Show p.Pro307Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1167/18761	921/17673	307/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62534012	C C	T T	synonymous_variant synonymous_variant	LOW	NA19005.hp2 NA19005.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0009 a0004c0025t0009	a0004c0025t0009g0103 a0004c0025t0009g0103	1	186	0.0054	c.405 others(3): Show c.405G>A	p.Ser others(6): Show p.Ser135Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	651/18761	405/17673	135/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62535087	C C	T T	synonymous_variant synonymous_variant	LOW	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0065 a0001c0024t0001g0065	1	186	0.0054	c.258 others(3): Show c.258G>A	p.Leu others(5): Show p.Leu86Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	4/5	504/18761	258/17673	86/5890	chr11	TogoVar

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