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	104950308	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.514 others(4): Show c.5143C>G	p.Leu others(7): Show p.Leu1715Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5280/18335	5143/17388	1715/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950309	G G	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.514 others(4): Show c.5142C>A	p.Asp others(7): Show p.Asp1714Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5279/18335	5142/17388	1714/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950311	C C	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.514 others(4): Show c.5140G>C	p.Asp others(7): Show p.Asp1714His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5277/18335	5140/17388	1714/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950314	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.513 others(4): Show c.5137G>A	p.Ala others(7): Show p.Ala1713Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5274/18335	5137/17388	1713/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950319	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.513 others(4): Show c.5132C>T	p.Pro others(7): Show p.Pro1711Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5269/18335	5132/17388	1711/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950323	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02074.hp2 others(8): Show HG01167.hp2 HG01884.hp1 HG02074.hp2 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0061 a0064 a0069 others(8): Show a0061 a0064 a0069 a0080 a0081 a0086 a0089 a0114 a0133 a0142 a0195	a0061c0166 a0064c0165 a0069c0184 others(8): Show a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097 a0142c0085 a0195c0243	a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 others(8): Show a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001 a0142c0085t0001 a0195c0243t0003	a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 others(8): Show a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116 a0142c0085t0001g0212 a0195c0243t0003g0148	11	356	0.0309	c.512 others(4): Show c.5128T>C	p.Ser others(7): Show p.Ser1710Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5265/18335	5128/17388	1710/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950329	T T	C C	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0195 a0195	a0195c0243 a0195c0243	a0195c0243t0003 a0195c0243t0003	a0195c0243t0003g0148 a0195c0243t0003g0148	1	356	0.0028	c.512 others(4): Show c.5122A>G	p.Ile others(7): Show p.Ile1708Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5259/18335	5122/17388	1708/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950335	G G	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.511 others(4): Show c.5116C>A	p.Leu others(7): Show p.Leu1706Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5253/18335	5116/17388	1706/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950338	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00609.hp2 HG00621.hp1 others(30): Show HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01192.hp2 HG01256.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG03704.hp2 HG04184.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18963.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19055.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19091.hp1	a0012 a0013 a0038 others(19): Show a0012 a0013 a0038 a0039 a0040 a0041 a0043 a0134 a0135 a0136 a0139 a0140 a0151 a0152 a0153 a0154 a0155 a0156 a0158 a0190 a0199 a0206	a0012c0036 a0012c0039 a0013c0010 others(21): Show a0012c0036 a0012c0039 a0013c0010 a0038c0037 a0039c0028 a0040c0038 a0041c0083 a0041c0099 a0043c0040 a0134c0096 a0135c0076 a0136c0140 a0139c0142 a0140c0093 a0151c0145 a0152c0146 a0153c0147 a0154c0148 a0155c0084 a0156c0144 a0158c0143 a0190c0151 a0199c0069 a0206c0066	a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 others(22): Show a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 a0038c0037t0001 a0039c0028t0001 a0039c0028t0014 a0040c0038t0001 a0041c0083t0001 a0041c0099t0001 a0043c0040t0001 a0134c0096t0001 a0135c0076t0001 a0136c0140t0001 a0139c0142t0001 a0140c0093t0001 a0151c0145t0001 a0152c0146t0001 a0153c0147t0001 a0154c0148t0001 a0155c0084t0001 a0156c0144t0001 a0158c0143t0001 a0190c0151t0001 a0199c0069t0001 a0206c0066t0001	a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 others(25): Show a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0013c0010t0001g0004 a0038c0037t0001g0027 a0039c0028t0001g0214 a0039c0028t0014g0215 a0040c0038t0001g0174 a0040c0038t0001g0189 a0041c0083t0001g0216 a0041c0099t0001g0217 a0043c0040t0001g0172 a0043c0040t0001g0191 a0134c0096t0001g0218 a0135c0076t0001g0213 a0136c0140t0001g0186 a0139c0142t0001g0127 a0140c0093t0001g0210 a0151c0145t0001g0165 a0152c0146t0001g0187 a0153c0147t0001g0188 a0154c0148t0001g0265 a0155c0084t0001g0211 a0156c0144t0001g0158 a0158c0143t0001g0169 a0190c0151t0001g0168 a0199c0069t0001g0226 a0206c0066t0001g0183	33	356	0.0927	c.511 others(4): Show c.5113G>C	p.Asp others(7): Show p.Asp1705His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5250/18335	5113/17388	1705/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950344	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(7): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG04228.hp2 NA19012.hp1 NA20129.hp1	a0028 a0061 a0069 others(6): Show a0028 a0061 a0069 a0080 a0081 a0089 a0111 a0133 a0186	a0028c0019 a0061c0166 a0069c0184 others(6): Show a0028c0019 a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196 a0111c0232 a0133c0097 a0186c0132	a0028c0019t0009 a0061c0166t0002 a0069c0184t0002 others(6): Show a0028c0019t0009 a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0111c0232t0002 a0133c0097t0001 a0186c0132t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 others(7): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0111c0232t0002g0066 a0133c0097t0001g0116 a0186c0132t0001g0290	10	356	0.0281	c.510 others(4): Show c.5107A>G	p.Thr others(7): Show p.Thr1703Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5244/18335	5107/17388	1703/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950368	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.508 others(4): Show c.5083C>T	p.Pro others(7): Show p.Pro1695Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5220/18335	5083/17388	1695/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950371	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.508 others(4): Show c.5080C>T	p.Leu others(7): Show p.Leu1694Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5217/18335	5080/17388	1694/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950376	A A	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.507 others(4): Show c.5075T>G	p.Val others(7): Show p.Val1692Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5212/18335	5075/17388	1692/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950377	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03130.hp1 HG03942.hp1 others(2): Show HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0020 a0064 a0086 a0020 a0064 a0086	a0020c0018 a0064c0165 a0086c0188 a0020c0018 a0064c0165 a0086c0188	a0020c0018t0002 a0064c0165t0001 a0086c0188t0002 a0020c0018t0002 a0064c0165t0001 a0086c0188t0002	a0020c0018t0002g0009 a0064c0165t0001g0247 a0086c0188t0002g0182 a0020c0018t0002g0009 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.507 others(4): Show c.5074G>A	p.Val others(7): Show p.Val1692Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5211/18335	5074/17388	1692/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950386	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0070 a0070	a0070c0170 a0070c0170	a0070c0170t0002 a0070c0170t0002	a0070c0170t0002g0246 a0070c0170t0002g0246	1	356	0.0028	c.506 others(4): Show c.5065G>A	p.Glu others(7): Show p.Glu1689Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5202/18335	5065/17388	1689/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950388	A A	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0070 a0070	a0070c0170 a0070c0170	a0070c0170t0002 a0070c0170t0002	a0070c0170t0002g0246 a0070c0170t0002g0246	1	356	0.0028	c.506 others(4): Show c.5063T>C	p.Val others(7): Show p.Val1688Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5200/18335	5063/17388	1688/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950394	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03688.hp1 HG03209.hp1 HG03688.hp1	a0070 a0114 a0070 a0114	a0070c0170 a0114c0225 a0070c0170 a0114c0225	a0070c0170t0002 a0114c0225t0002 a0070c0170t0002 a0114c0225t0002	a0070c0170t0002g0246 a0114c0225t0002g0234 a0070c0170t0002g0246 a0114c0225t0002g0234	2	356	0.0056	c.505 others(4): Show c.5057C>T	p.Pro others(7): Show p.Pro1686Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5194/18335	5057/17388	1686/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950397	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01071.hp1 HG01081.hp1 others(12): Show HG00099.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0020 a0052 a0061 others(9): Show a0020 a0052 a0061 a0064 a0069 a0080 a0081 a0086 a0089 a0120 a0133 a0141	a0020c0018 a0052c0208 a0052c0209 others(10): Show a0020c0018 a0052c0208 a0052c0209 a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0120c0214 a0133c0097 a0141c0092	a0020c0018t0002 a0052c0208t0002 a0052c0209t0002 others(10): Show a0020c0018t0002 a0052c0208t0002 a0052c0209t0002 a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0120c0214t0002 a0133c0097t0001 a0141c0092t0001	a0020c0018t0002g0009 a0052c0208t0002g0231 a0052c0209t0002g0232 others(10): Show a0020c0018t0002g0009 a0052c0208t0002g0231 a0052c0209t0002g0232 a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0120c0214t0002g0062 a0133c0097t0001g0116 a0141c0092t0001g0096	15	356	0.0421	c.505 others(4): Show c.5054A>C	p.Glu others(7): Show p.Glu1685Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5191/18335	5054/17388	1685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950398	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.505 others(4): Show c.5053G>C	p.Glu others(7): Show p.Glu1685Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5190/18335	5053/17388	1685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950404	C C	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0020 a0086 a0020 a0086	a0020c0018 a0086c0188 a0020c0018 a0086c0188	a0020c0018t0002 a0086c0188t0002 a0020c0018t0002 a0086c0188t0002	a0020c0018t0002g0009 a0086c0188t0002g0182 a0020c0018t0002g0009 a0086c0188t0002g0182	4	356	0.0112	c.504 others(4): Show c.5047G>C	p.Val others(7): Show p.Val1683Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5184/18335	5047/17388	1683/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950415	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 NA19043.hp2 HG00099.hp2 NA19043.hp2	a0120 a0122 a0120 a0122	a0120c0214 a0122c0213 a0120c0214 a0122c0213	a0120c0214t0002 a0122c0213t0015 a0120c0214t0002 a0122c0213t0015	a0120c0214t0002g0062 a0122c0213t0015g0304 a0120c0214t0002g0062 a0122c0213t0015g0304	2	356	0.0056	c.503 others(4): Show c.5036C>A	p.Ala others(7): Show p.Ala1679Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5173/18335	5036/17388	1679/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950418	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.503 others(4): Show c.5033A>C	p.Glu others(7): Show p.Glu1678Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5170/18335	5033/17388	1678/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950420	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 NA19043.hp2 HG00099.hp2 NA19043.hp2	a0120 a0122 a0120 a0122	a0120c0214 a0122c0213 a0120c0214 a0122c0213	a0120c0214t0002 a0122c0213t0015 a0120c0214t0002 a0122c0213t0015	a0120c0214t0002g0062 a0122c0213t0015g0304 a0120c0214t0002g0062 a0122c0213t0015g0304	2	356	0.0056	c.503 others(4): Show c.5031C>G	p.Ile others(7): Show p.Ile1677Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5168/18335	5031/17388	1677/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950426	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0070 a0070	a0070c0170 a0070c0170	a0070c0170t0002 a0070c0170t0002	a0070c0170t0002g0246 a0070c0170t0002g0246	1	356	0.0028	c.502 others(4): Show c.5025G>C	p.Lys others(7): Show p.Lys1675Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5162/18335	5025/17388	1675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950427	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0101 a0101	a0101c0063 a0101c0063	a0101c0063t0002 a0101c0063t0002	a0101c0063t0002g0155 a0101c0063t0002g0155	1	356	0.0028	c.502 others(4): Show c.5024A>G	p.Lys others(7): Show p.Lys1675Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5161/18335	5024/17388	1675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950428	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02056.hp2 HG02630.hp1 others(1): Show HG01496.hp1 HG02056.hp2 HG02630.hp1 NA18941.hp1	a0042 a0054 a0068 a0042 a0054 a0068	a0042c0026 a0054c0059 a0068c0169 a0042c0026 a0054c0059 a0068c0169	a0042c0026t0001 a0054c0059t0001 a0068c0169t0002 a0042c0026t0001 a0054c0059t0001 a0068c0169t0002	a0042c0026t0001g0021 a0054c0059t0001g0119 a0068c0169t0002g0071 a0042c0026t0001g0021 a0054c0059t0001g0119 a0068c0169t0002g0071	4	356	0.0112	c.502 others(4): Show c.5023A>G	p.Lys others(7): Show p.Lys1675Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5160/18335	5023/17388	1675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950439	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.501 others(4): Show c.5012C>T	p.Ser others(7): Show p.Ser1671Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5149/18335	5012/17388	1671/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950462	G G	C C	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02615.hp1 HG02622.hp1 others(2): Show HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 NA18522.hp1	a0032 a0127 a0128 others(1): Show a0032 a0127 a0128 a0204	a0032c0050 a0127c0241 a0128c0239 others(1): Show a0032c0050 a0127c0241 a0128c0239 a0204c0053	a0032c0050t0003 a0127c0241t0003 a0128c0239t0003 others(1): Show a0032c0050t0003 a0127c0241t0003 a0128c0239t0003 a0204c0053t0001	a0032c0050t0003g0136 a0032c0050t0003g0145 a0127c0241t0003g0138 others(2): Show a0032c0050t0003g0136 a0032c0050t0003g0145 a0127c0241t0003g0138 a0128c0239t0003g0135 a0204c0053t0001g0065	5	356	0.0140	c.498 others(4): Show c.4989C>G	p.Phe others(7): Show p.Phe1663Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5126/18335	4989/17388	1663/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950471	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.498 others(4): Show c.4980G>T	p.Met others(7): Show p.Met1660Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5117/18335	4980/17388	1660/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950481	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.497 others(4): Show c.4970A>G	p.Lys others(7): Show p.Lys1657Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5107/18335	4970/17388	1657/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950494	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1	a0061 a0064 a0069 others(4): Show a0061 a0064 a0069 a0080 a0081 a0089 a0133	a0061c0166 a0064c0165 a0069c0184 others(4): Show a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0089c0196 a0133c0097	a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 others(4): Show a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0133c0097t0001	a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 others(4): Show a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0133c0097t0001g0116	7	356	0.0197	c.495 others(4): Show c.4957G>A	p.Ala others(7): Show p.Ala1653Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5094/18335	4957/17388	1653/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950500	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0061 a0069 a0080 others(2): Show a0061 a0069 a0080 a0081 a0089	a0061c0166 a0069c0184 a0080c0180 others(2): Show a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 others(2): Show a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 others(2): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	5	356	0.0140	c.495 others(4): Show c.4951G>T	p.Val others(7): Show p.Val1651Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5088/18335	4951/17388	1651/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950500	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.495 others(4): Show c.4951G>A	p.Val others(7): Show p.Val1651Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5088/18335	4951/17388	1651/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950502	G G	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.494 others(4): Show c.4949C>G	p.Ala others(7): Show p.Ala1650Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5086/18335	4949/17388	1650/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950502	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp2 HG01169.hp1 others(15): Show HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp2 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0020 a0034 a0051 others(11): Show a0020 a0034 a0051 a0061 a0064 a0069 a0080 a0081 a0082 a0086 a0089 a0132 a0133 a0195	a0020c0018 a0034c0048 a0051c0051 others(11): Show a0020c0018 a0034c0048 a0051c0051 a0061c0166 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0082c0174 a0086c0188 a0089c0196 a0132c0236 a0133c0097 a0195c0243	a0020c0018t0002 a0034c0048t0003 a0051c0051t0001 others(11): Show a0020c0018t0002 a0034c0048t0003 a0051c0051t0001 a0061c0166t0002 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0086c0188t0002 a0089c0196t0002 a0132c0236t0003 a0133c0097t0001 a0195c0243t0003	a0020c0018t0002g0009 a0034c0048t0003g0023 a0051c0051t0001g0024 others(11): Show a0020c0018t0002g0009 a0034c0048t0003g0023 a0051c0051t0001g0024 a0061c0166t0002g0293 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0086c0188t0002g0182 a0089c0196t0002g0198 a0132c0236t0003g0147 a0133c0097t0001g0116 a0195c0243t0003g0148	18	356	0.0506	c.494 others(4): Show c.4949C>A	p.Ala others(7): Show p.Ala1650Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5086/18335	4949/17388	1650/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950509	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.494 others(4): Show c.4942G>A	p.Asp others(7): Show p.Asp1648Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5079/18335	4942/17388	1648/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950515	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.493 others(4): Show c.4936C>G	p.Leu others(7): Show p.Leu1646Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5073/18335	4936/17388	1646/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950518	A A	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.493 others(4): Show c.4933T>A	p.Ser others(7): Show p.Ser1645Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5070/18335	4933/17388	1645/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950520	A A	T T	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0156 a0156	a0156c0144 a0156c0144	a0156c0144t0001 a0156c0144t0001	a0156c0144t0001g0158 a0156c0144t0001g0158	1	356	0.0028	c.493 others(4): Show c.4931T>A	p.Leu others(7): Show p.Leu1644Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5068/18335	4931/17388	1644/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950521	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0061 a0069 a0080 others(2): Show a0061 a0069 a0080 a0081 a0089	a0061c0166 a0069c0184 a0080c0180 others(2): Show a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 others(2): Show a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 others(2): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	5	356	0.0140	c.493 others(4): Show c.4930C>A	p.Leu others(7): Show p.Leu1644Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5067/18335	4930/17388	1644/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950526	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0061 a0069 a0080 others(2): Show a0061 a0069 a0080 a0081 a0089	a0061c0166 a0069c0184 a0080c0180 others(2): Show a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 others(2): Show a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 others(2): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	5	356	0.0140	c.492 others(4): Show c.4925G>A	p.Gly others(7): Show p.Gly1642Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5062/18335	4925/17388	1642/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950528	C C	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0020 a0086 a0020 a0086	a0020c0018 a0086c0188 a0020c0018 a0086c0188	a0020c0018t0002 a0086c0188t0002 a0020c0018t0002 a0086c0188t0002	a0020c0018t0002g0009 a0086c0188t0002g0182 a0020c0018t0002g0009 a0086c0188t0002g0182	4	356	0.0112	c.492 others(4): Show c.4923G>C	p.Glu others(7): Show p.Glu1641Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5060/18335	4923/17388	1641/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950530	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03453.hp2 HG03486.hp2 others(1): Show HG03130.hp1 HG03453.hp2 HG03486.hp2 NA19043.hp1	a0064 a0124 a0157 others(1): Show a0064 a0124 a0157 a0163	a0064c0165 a0124c0071 a0157c0080 others(1): Show a0064c0165 a0124c0071 a0157c0080 a0163c0098	a0064c0165t0001 a0124c0071t0001 a0157c0080t0003 others(1): Show a0064c0165t0001 a0124c0071t0001 a0157c0080t0003 a0163c0098t0001	a0064c0165t0001g0247 a0124c0071t0001g0123 a0157c0080t0003g0121 others(1): Show a0064c0165t0001g0247 a0124c0071t0001g0123 a0157c0080t0003g0121 a0163c0098t0001g0122	4	356	0.0112	c.492 others(4): Show c.4921G>C	p.Glu others(7): Show p.Glu1641Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5058/18335	4921/17388	1641/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950534	C C	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.491 others(4): Show c.4917G>T	p.Gln others(7): Show p.Gln1639His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5054/18335	4917/17388	1639/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950535	T T	C C	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(53): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01167.hp2 HG01175.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA20129.hp1	a0006 a0009 a0010 others(35): Show a0006 a0009 a0010 a0017 a0019 a0027 a0053 a0061 a0062 a0066 a0069 a0070 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0114 a0133 a0136 a0185 a0207 a0211	a0006c0006 a0006c0200 a0009c0043 others(39): Show a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0017c0015 a0019c0016 a0027c0189 a0027c0190 a0053c0246 a0061c0166 a0062c0167 a0066c0202 a0069c0184 a0070c0170 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0114c0225 a0133c0097 a0136c0140 a0185c0126 a0207c0206 a0211c0247	a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 others(39): Show a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0017c0015t0002 a0019c0016t0005 a0027c0189t0002 a0027c0190t0002 a0053c0246t0002 a0061c0166t0002 a0062c0167t0002 a0066c0202t0005 a0069c0184t0002 a0070c0170t0002 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0114c0225t0002 a0133c0097t0001 a0136c0140t0001 a0185c0126t0001 a0207c0206t0002 a0211c0247t0002	a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 others(47): Show a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0027c0189t0002g0227 a0027c0190t0002g0228 a0053c0246t0002g0074 a0061c0166t0002g0293 a0062c0167t0002g0230 a0066c0202t0005g0203 a0069c0184t0002g0209 a0070c0170t0002g0246 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0114c0225t0002g0234 a0133c0097t0001g0116 a0136c0140t0001g0186 a0185c0126t0001g0291 a0207c0206t0002g0223 a0211c0247t0002g0206	56	356	0.1573	c.491 others(4): Show c.4916A>G	p.Gln others(7): Show p.Gln1639Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5053/18335	4916/17388	1639/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950538	G G	A A	missense_variant missense_variant	MODERATE	NA18980.hp1 NA19043.hp2 NA18980.hp1 NA19043.hp2	a0122 a0139 a0122 a0139	a0122c0213 a0139c0142 a0122c0213 a0139c0142	a0122c0213t0015 a0139c0142t0001 a0122c0213t0015 a0139c0142t0001	a0122c0213t0015g0304 a0139c0142t0001g0127 a0122c0213t0015g0304 a0139c0142t0001g0127	2	356	0.0056	c.491 others(4): Show c.4913C>T	p.Ala others(7): Show p.Ala1638Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5050/18335	4913/17388	1638/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950538	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0061 a0069 a0080 others(2): Show a0061 a0069 a0080 a0081 a0089	a0061c0166 a0069c0184 a0080c0180 others(2): Show a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 others(2): Show a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 others(2): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	5	356	0.0140	c.491 others(4): Show c.4913C>G	p.Ala others(7): Show p.Ala1638Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5050/18335	4913/17388	1638/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950542	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.490 others(4): Show c.4909G>A	p.Gly others(7): Show p.Gly1637Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5046/18335	4909/17388	1637/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950557	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(7): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0020 a0061 a0069 others(5): Show a0020 a0061 a0069 a0080 a0081 a0086 a0089 a0133	a0020c0018 a0061c0166 a0069c0184 others(5): Show a0020c0018 a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0133c0097	a0020c0018t0002 a0061c0166t0002 a0069c0184t0002 others(5): Show a0020c0018t0002 a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0133c0097t0001	a0020c0018t0002g0009 a0061c0166t0002g0293 a0069c0184t0002g0209 others(5): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0133c0097t0001g0116	10	356	0.0281	c.489 others(4): Show c.4894A>G	p.Arg others(7): Show p.Arg1632Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5031/18335	4894/17388	1632/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950566	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(3): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0061 a0069 a0080 others(3): Show a0061 a0069 a0080 a0081 a0089 a0133	a0061c0166 a0069c0184 a0080c0180 others(3): Show a0061c0166 a0069c0184 a0080c0180 a0081c0173 a0089c0196 a0133c0097	a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 others(3): Show a0061c0166t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002 a0133c0097t0001	a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 others(3): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198 a0133c0097t0001g0116	6	356	0.0169	c.488 others(4): Show c.4885C>G	p.Gln others(7): Show p.Gln1629Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5022/18335	4885/17388	1629/5795	chr14	TogoVar

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