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	104949260	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.619 others(4): Show c.6191G>A	p.Gly others(7): Show p.Gly2064Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6328/18335	6191/17388	2064/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949270	C C	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.618 others(4): Show c.6181G>C	p.Val others(7): Show p.Val2061Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6318/18335	6181/17388	2061/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949270	C C	T T	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18961.hp1 NA18967.hp2 others(2): Show NA18959.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp2 NA19085.hp2	a0014 a0164 a0014 a0164	a0014c0009 a0164c0139 a0014c0009 a0164c0139	a0014c0009t0001 a0164c0139t0001 a0014c0009t0001 a0164c0139t0001	a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 others(1): Show a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 a0164c0139t0001g0185	5	356	0.0140	c.618 others(4): Show c.6181G>A	p.Val others(7): Show p.Val2061Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6318/18335	6181/17388	2061/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949271	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(109): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.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 NA20129.hp1 NA20300.hp2	a0004 a0006 a0009 others(71): Show a0004 a0006 a0009 a0010 a0015 a0016 a0017 a0019 a0020 a0026 a0027 a0032 a0034 a0035 a0046 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0087 a0088 a0089 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0102 a0103 a0114 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0149 a0170 a0182 a0183 a0195 a0196 a0203 a0205 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(80): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0015c0035 a0015c0122 a0015c0125 a0016c0041 a0016c0160 a0017c0015 a0019c0016 a0020c0018 a0026c0042 a0027c0189 a0027c0190 a0032c0050 a0034c0048 a0035c0023 a0046c0032 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0114c0225 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0149c0086 a0170c0105 a0182c0128 a0183c0130 a0195c0243 a0196c0207 a0203c0210 a0205c0245 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(80): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0019c0016t0005 a0020c0018t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0046c0032t0002 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0114c0225t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0149c0086t0002 a0170c0105t0002 a0182c0128t0002 a0183c0130t0002 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0205c0245t0002 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(95): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0046c0032t0002g0019 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0114c0225t0002g0234 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0149c0086t0002g0081 a0170c0105t0002g0076 a0182c0128t0002g0269 a0183c0130t0002g0105 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0205c0245t0002g0067 a0207c0206t0002g0223 a0211c0247t0002g0206	112	356	0.3146	c.618 others(4): Show c.6180C>G	p.His others(7): Show p.His2060Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6317/18335	6180/17388	2060/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949272	T T	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0064 a0086 a0064 a0086	a0064c0165 a0086c0188 a0064c0165 a0086c0188	a0064c0165t0001 a0086c0188t0002 a0064c0165t0001 a0086c0188t0002	a0064c0165t0001g0247 a0086c0188t0002g0182 a0064c0165t0001g0247 a0086c0188t0002g0182	2	356	0.0056	c.617 others(4): Show c.6179A>C	p.His others(7): Show p.His2060Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6316/18335	6179/17388	2060/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949281	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0018 a0064	a0018c0017 a0064c0165 a0018c0017 a0064c0165	a0018c0017t0005 a0064c0165t0001 a0018c0017t0005 a0064c0165t0001	a0018c0017t0005g0008 a0064c0165t0001g0247 a0018c0017t0005g0008 a0064c0165t0001g0247	4	356	0.0112	c.617 others(4): Show c.6170C>T	p.Pro others(7): Show p.Pro2057Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6307/18335	6170/17388	2057/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949294	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.615 others(4): Show c.6157G>A	p.Asp others(7): Show p.Asp2053Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6294/18335	6157/17388	2053/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949306	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG03942.hp1 others(3): Show HG02630.hp2 HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 others(1): Show a0018 a0064 a0086 a0133	a0018c0017 a0064c0165 a0086c0188 others(1): Show a0018c0017 a0064c0165 a0086c0188 a0133c0097	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 others(1): Show a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0133c0097t0001	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 others(1): Show a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0133c0097t0001g0116	6	356	0.0169	c.614 others(4): Show c.6145A>G	p.Thr others(7): Show p.Thr2049Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6282/18335	6145/17388	2049/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949307	C C	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0005 a0018c0017t0005	a0018c0017t0005g0008 a0018c0017t0005g0008	3	356	0.0084	c.614 others(4): Show c.6144G>C	p.Gln others(7): Show p.Gln2048His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6281/18335	6144/17388	2048/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949315	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 NA18948.hp2 others(2): Show HG02630.hp2 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0086 a0133 a0018 a0086 a0133	a0018c0017 a0086c0188 a0133c0097 a0018c0017 a0086c0188 a0133c0097	a0018c0017t0005 a0086c0188t0002 a0133c0097t0001 a0018c0017t0005 a0086c0188t0002 a0133c0097t0001	a0018c0017t0005g0008 a0086c0188t0002g0182 a0133c0097t0001g0116 a0018c0017t0005g0008 a0086c0188t0002g0182 a0133c0097t0001g0116	5	356	0.0140	c.613 others(4): Show c.6136A>G	p.Lys others(7): Show p.Lys2046Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6273/18335	6136/17388	2046/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949318	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.613 others(4): Show c.6133C>G	p.Leu others(7): Show p.Leu2045Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6270/18335	6133/17388	2045/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949319	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.613 others(4): Show c.6132C>A	p.Asp others(7): Show p.Asp2044Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6269/18335	6132/17388	2044/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949321	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.613 others(4): Show c.6130G>C	p.Asp others(7): Show p.Asp2044His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6267/18335	6130/17388	2044/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949329	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.612 others(4): Show c.6122C>T	p.Pro others(7): Show p.Pro2041Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6259/18335	6122/17388	2041/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949330	G G	C C	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0198 a0198	a0198c0152 a0198c0152	a0198c0152t0001 a0198c0152t0001	a0198c0152t0001g0118 a0198c0152t0001g0118	1	356	0.0028	c.612 others(4): Show c.6121C>G	p.Pro others(7): Show p.Pro2041Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6258/18335	6121/17388	2041/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949333	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.611 others(4): Show c.6118C>T	p.Pro others(7): Show p.Pro2040Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6255/18335	6118/17388	2040/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949345	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.610 others(4): Show c.6106C>A	p.Leu others(7): Show p.Leu2036Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6243/18335	6106/17388	2036/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949378	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0101 a0101	a0101c0063 a0101c0063	a0101c0063t0002 a0101c0063t0002	a0101c0063t0002g0155 a0101c0063t0002g0155	1	356	0.0028	c.607 others(4): Show c.6073C>T	p.Pro others(7): Show p.Pro2025Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6210/18335	6073/17388	2025/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949381	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.607 others(4): Show c.6070C>T	p.Leu others(7): Show p.Leu2024Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6207/18335	6070/17388	2024/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949386	A A	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.606 others(4): Show c.6065T>G	p.Val others(7): Show p.Val2022Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6202/18335	6065/17388	2022/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949387	C C	G G	missense_variant missense_variant	MODERATE	HG01106.hp2 HG03209.hp1 HG01106.hp2 HG03209.hp1	a0070 a0113 a0070 a0113	a0070c0170 a0113c0216 a0070c0170 a0113c0216	a0070c0170t0002 a0113c0216t0002 a0070c0170t0002 a0113c0216t0002	a0070c0170t0002g0246 a0113c0216t0002g0058 a0070c0170t0002g0246 a0113c0216t0002g0058	2	356	0.0056	c.606 others(4): Show c.6064G>C	p.Val others(7): Show p.Val2022Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6201/18335	6064/17388	2022/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949398	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0076 a0076	a0076c0163 a0076c0163	a0076c0163t0001 a0076c0163t0001	a0076c0163t0001g0300 a0076c0163t0001g0300	1	356	0.0028	c.605 others(4): Show c.6053T>C	p.Val others(7): Show p.Val2018Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6190/18335	6053/17388	2018/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949404	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.604 others(4): Show c.6047C>T	p.Pro others(7): Show p.Pro2016Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6184/18335	6047/17388	2016/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949407	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.604 others(4): Show c.6044C>A	p.Ala others(7): Show p.Ala2015Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6181/18335	6044/17388	2015/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949408	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp1 HG00642.hp1 others(58): Show HG00099.hp1 HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.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(25): Show a0001 a0011 a0021 a0022 a0025 a0029 a0030 a0031 a0052 a0065 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0115 a0116 a0117 a0118 a0119 a0121 a0122 a0123 a0129	a0001c0001 a0001c0003 a0001c0045 others(33): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0065c0203 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0121c0231 a0122c0213 a0123c0233 a0129c0133	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(33): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0065c0203t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0129c0133t0001	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(42): 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 a0052c0208t0002g0231 a0052c0209t0002g0232 a0065c0203t0002g0201 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0129c0133t0001g0052	61	356	0.1714	c.604 others(4): Show c.6043G>C	p.Ala others(7): Show p.Ala2015Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6180/18335	6043/17388	2015/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949411	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp1 HG00639.hp1 others(66): Show HG00099.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.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(32): Show a0001 a0011 a0021 a0022 a0025 a0029 a0030 a0031 a0046 a0052 a0065 a0081 a0086 a0101 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0115 a0116 a0117 a0118 a0119 a0121 a0122 a0123 a0129 a0131 a0133 a0197	a0001c0001 a0001c0003 a0001c0045 others(40): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0046c0032 a0052c0208 a0052c0209 a0065c0203 a0081c0173 a0086c0188 a0101c0063 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0121c0231 a0122c0213 a0123c0233 a0129c0133 a0131c0235 a0133c0097 a0197c0057	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(40): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0046c0032t0002 a0052c0208t0002 a0052c0209t0002 a0065c0203t0002 a0081c0173t0002 a0086c0188t0002 a0101c0063t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0129c0133t0001 a0131c0235t0003 a0133c0097t0001 a0197c0057t0001	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(49): 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 a0046c0032t0002g0019 a0052c0208t0002g0231 a0052c0209t0002g0232 a0065c0203t0002g0201 a0081c0173t0002g0180 a0086c0188t0002g0182 a0101c0063t0002g0155 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0129c0133t0001g0052 a0131c0235t0003g0132 a0133c0097t0001g0116 a0197c0057t0001g0068	69	356	0.1938	c.604 others(4): Show c.6040C>T	p.Pro others(7): Show p.Pro2014Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6177/18335	6040/17388	2014/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949430	G G	C C	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0184 a0184	a0184c0123 a0184c0123	a0184c0123t0001 a0184c0123t0001	a0184c0123t0001g0268 a0184c0123t0001g0268	1	356	0.0028	c.602 others(4): Show c.6021C>G	p.Ile others(7): Show p.Ile2007Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6158/18335	6021/17388	2007/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949437	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.601 others(4): Show c.6014G>A	p.Arg others(7): Show p.Arg2005Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6151/18335	6014/17388	2005/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949464	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0112 a0112	a0112c0227 a0112c0227	a0112c0227t0007 a0112c0227t0007	a0112c0227t0007g0207 a0112c0227t0007g0207	1	356	0.0028	c.598 others(4): Show c.5987C>T	p.Pro others(7): Show p.Pro1996Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6124/18335	5987/17388	1996/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949510	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02280.hp1 HG02922.hp1 others(4): Show HG01167.hp2 HG02280.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03942.hp1 NA20129.hp1	a0036 a0069 a0080 others(3): Show a0036 a0069 a0080 a0081 a0086 a0191	a0036c0030 a0069c0184 a0080c0180 others(3): Show a0036c0030 a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0191c0150	a0036c0030t0001 a0069c0184t0002 a0080c0180t0002 others(3): Show a0036c0030t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0191c0150t0001	a0036c0030t0001g0018 a0069c0184t0002g0209 a0080c0180t0002g0181 others(3): Show a0036c0030t0001g0018 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0191c0150t0001g0090	7	356	0.0197	c.594 others(4): Show c.5941A>G	p.Met others(7): Show p.Met1981Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6078/18335	5941/17388	1981/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949511	G G	C C	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.594 others(4): Show c.5940C>G	p.Asp others(7): Show p.Asp1980Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6077/18335	5940/17388	1980/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949512	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.593 others(4): Show c.5939A>G	p.Asp others(7): Show p.Asp1980Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6076/18335	5939/17388	1980/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949512	T T	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.593 others(4): Show c.5939A>C	p.Asp others(7): Show p.Asp1980Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6076/18335	5939/17388	1980/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949545	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.590 others(4): Show c.5906G>A	p.Arg others(7): Show p.Arg1969Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6043/18335	5906/17388	1969/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949548	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 HG03942.hp1 others(1): Show HG01167.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0086	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0086c0188	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182	4	356	0.0112	c.590 others(4): Show c.5903C>T	p.Ala others(7): Show p.Ala1968Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6040/18335	5903/17388	1968/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949552	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02602.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02602.hp2 HG03195.hp2 NA20129.hp1	a0053 a0069 a0080 others(1): Show a0053 a0069 a0080 a0081	a0053c0246 a0069c0184 a0080c0180 others(1): Show a0053c0246 a0069c0184 a0080c0180 a0081c0173	a0053c0246t0002 a0069c0184t0002 a0080c0180t0002 others(1): Show a0053c0246t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0053c0246t0002g0074 a0069c0184t0002g0209 a0080c0180t0002g0181 others(1): Show a0053c0246t0002g0074 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	4	356	0.0112	c.589 others(4): Show c.5899G>A	p.Gly others(7): Show p.Gly1967Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6036/18335	5899/17388	1967/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949564	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.588 others(4): Show c.5887G>C	p.Ala others(7): Show p.Ala1963Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6024/18335	5887/17388	1963/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949566	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.588 others(4): Show c.5885A>G	p.Lys others(7): Show p.Lys1962Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6022/18335	5885/17388	1962/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949567	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.588 others(4): Show c.5884A>G	p.Lys others(7): Show p.Lys1962Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6021/18335	5884/17388	1962/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949569	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.588 others(4): Show c.5882A>C	p.Gln others(7): Show p.Gln1961Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6019/18335	5882/17388	1961/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949576	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.587 others(4): Show c.5875C>G	p.Gln others(7): Show p.Gln1959Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6012/18335	5875/17388	1959/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949591	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.586 others(4): Show c.5860A>G	p.Met others(7): Show p.Met1954Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5997/18335	5860/17388	1954/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949596	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 NA18945.hp2 NA18998.hp2 others(2): Show HG00609.hp1 NA18945.hp2 NA18998.hp2 NA19005.hp1 NA19058.hp2	a0019 a0066 a0095 a0019 a0066 a0095	a0019c0016 a0066c0202 a0095c0197 a0019c0016 a0066c0202 a0095c0197	a0019c0016t0005 a0066c0202t0005 a0095c0197t0005 a0019c0016t0005 a0066c0202t0005 a0095c0197t0005	a0019c0016t0005g0028 a0019c0016t0005g0177 a0066c0202t0005g0203 others(1): Show a0019c0016t0005g0028 a0019c0016t0005g0177 a0066c0202t0005g0203 a0095c0197t0005g0178	5	356	0.0140	c.585 others(4): Show c.5855C>T	p.Pro others(7): Show p.Pro1952Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5992/18335	5855/17388	1952/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949597	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.585 others(4): Show c.5854C>T	p.Pro others(7): Show p.Pro1952Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5991/18335	5854/17388	1952/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949606	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.584 others(4): Show c.5845G>A	p.Val others(7): Show p.Val1949Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5982/18335	5845/17388	1949/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949609	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0086 a0133 a0086 a0133	a0086c0188 a0133c0097 a0086c0188 a0133c0097	a0086c0188t0002 a0133c0097t0001 a0086c0188t0002 a0133c0097t0001	a0086c0188t0002g0182 a0133c0097t0001g0116 a0086c0188t0002g0182 a0133c0097t0001g0116	2	356	0.0056	c.584 others(4): Show c.5842G>A	p.Glu others(7): Show p.Glu1948Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5979/18335	5842/17388	1948/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949611	A A	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03098.hp1 HG03471.hp1 HG02451.hp1 HG03098.hp1 HG03471.hp1	a0077 a0078 a0079 a0077 a0078 a0079	a0077c0182 a0078c0175 a0079c0183 a0077c0182 a0078c0175 a0079c0183	a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003	a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164	3	356	0.0084	c.584 others(4): Show c.5840T>G	p.Val others(7): Show p.Val1947Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5977/18335	5840/17388	1947/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949623	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.582 others(4): Show c.5828C>T	p.Thr others(7): Show p.Thr1943Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5965/18335	5828/17388	1943/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949627	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp1 NA20300.hp2 HG02976.hp1 NA20300.hp2	a0102 a0103 a0102 a0103	a0102c0064 a0103c0065 a0102c0064 a0103c0065	a0102c0064t0003 a0103c0065t0003 a0102c0064t0003 a0103c0065t0003	a0102c0064t0003g0157 a0103c0065t0003g0156 a0102c0064t0003g0157 a0103c0065t0003g0156	2	356	0.0056	c.582 others(4): Show c.5824G>A	p.Val others(7): Show p.Val1942Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5961/18335	5824/17388	1942/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949632	G G	A A	missense_variant missense_variant	MODERATE	NA18945.hp1 NA18956.hp1 NA18963.hp1 others(2): Show NA18945.hp1 NA18956.hp1 NA18963.hp1 NA19076.hp2 NA19091.hp1	a0038 a0154 a0158 others(1): Show a0038 a0154 a0158 a0199	a0038c0037 a0154c0148 a0158c0143 others(1): Show a0038c0037 a0154c0148 a0158c0143 a0199c0069	a0038c0037t0001 a0154c0148t0001 a0158c0143t0001 others(1): Show a0038c0037t0001 a0154c0148t0001 a0158c0143t0001 a0199c0069t0001	a0038c0037t0001g0027 a0154c0148t0001g0265 a0158c0143t0001g0169 others(1): Show a0038c0037t0001g0027 a0154c0148t0001g0265 a0158c0143t0001g0169 a0199c0069t0001g0226	5	356	0.0140	c.581 others(4): Show c.5819C>T	p.Ala others(7): Show p.Ala1940Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5956/18335	5819/17388	1940/5795	chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)