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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Select column to sort.

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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	104948931	C C	T T	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0151 a0151	a0151c0145 a0151c0145	a0151c0145t0001 a0151c0145t0001	a0151c0145t0001g0165 a0151c0145t0001g0165	1	356	0.0028	c.652 others(4): Show c.6520G>A	p.Ala others(7): Show p.Ala2174Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6657/18335	6520/17388	2174/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948934	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0062 a0062	a0062c0167 a0062c0167	a0062c0167t0002 a0062c0167t0002	a0062c0167t0002g0230 a0062c0167t0002g0230	1	356	0.0028	c.651 others(4): Show c.6517G>A	p.Glu others(7): Show p.Glu2173Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6654/18335	6517/17388	2173/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948942	T T	C C	missense_variant missense_variant	MODERATE	HG02055.hp2 NA18522.hp2 HG02055.hp2 NA18522.hp2	a0082 a0083 a0082 a0083	a0082c0174 a0083c0176 a0082c0174 a0083c0176	a0082c0174t0003 a0083c0176t0003 a0082c0174t0003 a0083c0176t0003	a0082c0174t0003g0072 a0083c0176t0003g0073 a0082c0174t0003g0072 a0083c0176t0003g0073	2	356	0.0056	c.650 others(4): Show c.6509A>G	p.Lys others(7): Show p.Lys2170Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6646/18335	6509/17388	2170/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948954	G G	A A	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.649 others(4): Show c.6497C>T	p.Ser others(7): Show p.Ser2166Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6634/18335	6497/17388	2166/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948957	A A	G G	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0150 a0150	a0150c0082 a0150c0082	a0150c0082t0001 a0150c0082t0001	a0150c0082t0001g0088 a0150c0082t0001g0088	1	356	0.0028	c.649 others(4): Show c.6494T>C	p.Val others(7): Show p.Val2165Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6631/18335	6494/17388	2165/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948969	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.648 others(4): Show c.6482C>T	p.Pro others(7): Show p.Pro2161Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6619/18335	6482/17388	2161/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948996	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp2 HG02809.hp2 others(2): Show HG01884.hp1 HG02451.hp2 HG02809.hp2 HG03453.hp1 HG03516.hp2	a0061 a0062 a0098 others(2): Show a0061 a0062 a0098 a0161 a0203	a0061c0166 a0062c0167 a0098c0204 others(2): Show a0061c0166 a0062c0167 a0098c0204 a0161c0079 a0203c0210	a0061c0166t0002 a0062c0167t0002 a0098c0204t0002 others(2): Show a0061c0166t0002 a0062c0167t0002 a0098c0204t0002 a0161c0079t0012 a0203c0210t0003	a0061c0166t0002g0293 a0062c0167t0002g0230 a0098c0204t0002g0292 others(2): Show a0061c0166t0002g0293 a0062c0167t0002g0230 a0098c0204t0002g0292 a0161c0079t0012g0141 a0203c0210t0003g0149	5	356	0.0140	c.645 others(4): Show c.6455A>G	p.Lys others(7): Show p.Lys2152Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6592/18335	6455/17388	2152/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949001	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02451.hp1 HG02717.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp2 NA20129.hp2	a0074 a0075 a0076 others(2): Show a0074 a0075 a0076 a0078 a0197	a0074c0179 a0075c0164 a0076c0163 others(2): Show a0074c0179 a0075c0164 a0076c0163 a0078c0175 a0197c0057	a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 others(2): Show a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0078c0175t0002 a0197c0057t0001	a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 others(2): Show a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0078c0175t0002g0192 a0197c0057t0001g0068	5	356	0.0140	c.645 others(4): Show c.6450C>A	p.Asp others(7): Show p.Asp2150Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6587/18335	6450/17388	2150/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949009	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.644 others(4): Show c.6442A>G	p.Thr others(7): Show p.Thr2148Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6579/18335	6442/17388	2148/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949015	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(177): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0003 a0004 a0005 others(117): Show a0003 a0004 a0005 a0012 a0013 a0014 a0016 a0018 a0023 a0024 a0026 a0032 a0034 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0048 a0049 a0050 a0051 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0067 a0068 a0071 a0072 a0073 a0074 a0075 a0076 a0078 a0085 a0086 a0092 a0098 a0099 a0100 a0101 a0102 a0103 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0144 a0145 a0146 a0147 a0148 a0150 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0158 a0159 a0160 a0161 a0162 a0163 a0164 a0169 a0171 a0172 a0175 a0176 a0177 a0178 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0201 a0203 a0205 a0206 a0208 a0209 a0210	a0003c0008 a0003c0033 a0003c0115 others(134): Show a0003c0008 a0003c0033 a0003c0115 a0003c0117 a0003c0129 a0003c0134 a0003c0149 a0004c0005 a0004c0157 a0004c0158 a0005c0013 a0005c0025 a0005c0027 a0005c0067 a0005c0091 a0012c0036 a0012c0039 a0013c0010 a0014c0009 a0016c0041 a0016c0160 a0018c0017 a0023c0021 a0023c0072 a0024c0014 a0026c0042 a0032c0050 a0034c0048 a0036c0030 a0037c0029 a0038c0037 a0039c0028 a0040c0038 a0041c0083 a0041c0099 a0042c0026 a0043c0040 a0044c0049 a0045c0024 a0048c0034 a0049c0118 a0049c0127 a0050c0020 a0051c0051 a0054c0059 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0067c0058 a0068c0169 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0078c0175 a0085c0172 a0086c0188 a0092c0191 a0098c0204 a0099c0061 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0124c0071 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0129c0133 a0130c0075 a0131c0235 a0132c0236 a0134c0096 a0135c0076 a0136c0140 a0137c0094 a0138c0095 a0139c0142 a0140c0093 a0141c0092 a0142c0085 a0144c0238 a0145c0089 a0146c0090 a0147c0088 a0148c0081 a0150c0082 a0151c0145 a0152c0146 a0153c0147 a0154c0148 a0155c0084 a0156c0144 a0157c0080 a0158c0143 a0159c0141 a0160c0078 a0161c0079 a0162c0077 a0163c0098 a0164c0139 a0169c0237 a0171c0107 a0172c0124 a0175c0116 a0176c0135 a0177c0119 a0178c0108 a0188c0074 a0189c0073 a0190c0151 a0191c0150 a0192c0137 a0193c0138 a0194c0136 a0195c0243 a0196c0207 a0197c0057 a0198c0152 a0199c0069 a0201c0154 a0203c0210 a0205c0245 a0206c0066 a0208c0056 a0209c0054 a0210c0055	a0003c0008t0001 a0003c0033t0001 a0003c0115t0001 others(136): Show a0003c0008t0001 a0003c0033t0001 a0003c0115t0001 a0003c0117t0001 a0003c0129t0001 a0003c0134t0001 a0003c0149t0001 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0005c0013t0001 a0005c0025t0001 a0005c0027t0001 a0005c0067t0001 a0005c0091t0001 a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 a0014c0009t0001 a0016c0041t0006 a0016c0160t0006 a0018c0017t0005 a0023c0021t0001 a0023c0072t0001 a0024c0014t0001 a0026c0042t0002 a0032c0050t0003 a0034c0048t0003 a0036c0030t0001 a0037c0029t0001 a0038c0037t0001 a0039c0028t0001 a0039c0028t0014 a0040c0038t0001 a0041c0083t0001 a0041c0099t0001 a0042c0026t0001 a0043c0040t0001 a0044c0049t0003 a0045c0024t0001 a0048c0034t0001 a0048c0034t0011 a0049c0118t0001 a0049c0127t0001 a0050c0020t0001 a0051c0051t0001 a0054c0059t0001 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0067c0058t0002 a0068c0169t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0078c0175t0002 a0085c0172t0002 a0086c0188t0002 a0092c0191t0001 a0098c0204t0002 a0099c0061t0001 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0124c0071t0001 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0129c0133t0001 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0134c0096t0001 a0135c0076t0001 a0136c0140t0001 a0137c0094t0001 a0138c0095t0001 a0139c0142t0001 a0140c0093t0001 a0141c0092t0001 a0142c0085t0001 a0144c0238t0003 a0145c0089t0001 a0146c0090t0001 a0147c0088t0001 a0148c0081t0001 a0150c0082t0001 a0151c0145t0001 a0152c0146t0001 a0153c0147t0001 a0154c0148t0001 a0155c0084t0001 a0156c0144t0001 a0157c0080t0003 a0158c0143t0001 a0159c0141t0001 a0160c0078t0001 a0161c0079t0012 a0162c0077t0001 a0163c0098t0001 a0164c0139t0001 a0169c0237t0003 a0171c0107t0001 a0172c0124t0001 a0175c0116t0001 a0176c0135t0001 a0177c0119t0001 a0178c0108t0001 a0188c0074t0001 a0189c0073t0001 a0190c0151t0001 a0191c0150t0001 a0192c0137t0001 a0193c0138t0001 a0194c0136t0001 a0195c0243t0003 a0196c0207t0002 a0197c0057t0001 a0198c0152t0001 a0199c0069t0001 a0201c0154t0001 a0203c0210t0003 a0205c0245t0002 a0206c0066t0001 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003	a0003c0008t0001g0086 a0003c0008t0001g0100 a0003c0008t0001g0120 others(158): Show a0003c0008t0001g0086 a0003c0008t0001g0100 a0003c0008t0001g0120 a0003c0008t0001g0130 a0003c0033t0001g0022 a0003c0115t0001g0125 a0003c0117t0001g0126 a0003c0129t0001g0104 a0003c0134t0001g0106 a0003c0149t0001g0109 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0005c0013t0001g0083 a0005c0013t0001g0095 a0005c0013t0001g0202 a0005c0025t0001g0015 a0005c0027t0001g0266 a0005c0027t0001g0282 a0005c0067t0001g0129 a0005c0091t0001g0150 a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0013c0010t0001g0004 a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0018c0017t0005g0008 a0023c0021t0001g0221 a0023c0021t0001g0222 a0023c0072t0001g0220 a0024c0014t0001g0007 a0026c0042t0002g0124 a0026c0042t0002g0295 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0036c0030t0001g0018 a0037c0029t0001g0079 a0037c0029t0001g0294 a0038c0037t0001g0027 a0039c0028t0001g0214 a0039c0028t0014g0215 a0040c0038t0001g0174 a0040c0038t0001g0189 a0041c0083t0001g0216 a0041c0099t0001g0217 a0042c0026t0001g0021 a0043c0040t0001g0172 a0043c0040t0001g0191 a0044c0049t0003g0131 a0044c0049t0003g0133 a0045c0024t0001g0142 a0045c0024t0001g0143 a0048c0034t0001g0054 a0048c0034t0011g0151 a0049c0118t0001g0099 a0049c0127t0001g0103 a0050c0020t0001g0016 a0051c0051t0001g0024 a0054c0059t0001g0119 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0067c0058t0002g0302 a0068c0169t0002g0071 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0078c0175t0002g0192 a0085c0172t0002g0296 a0086c0188t0002g0182 a0092c0191t0001g0196 a0098c0204t0002g0292 a0099c0061t0001g0091 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0124c0071t0001g0123 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0129c0133t0001g0052 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0134c0096t0001g0218 a0135c0076t0001g0213 a0136c0140t0001g0186 a0137c0094t0001g0111 a0138c0095t0001g0112 a0139c0142t0001g0127 a0140c0093t0001g0210 a0141c0092t0001g0096 a0142c0085t0001g0212 a0144c0238t0003g0070 a0145c0089t0001g0080 a0146c0090t0001g0113 a0147c0088t0001g0082 a0148c0081t0001g0283 a0150c0082t0001g0088 a0151c0145t0001g0165 a0152c0146t0001g0187 a0153c0147t0001g0188 a0154c0148t0001g0265 a0155c0084t0001g0211 a0156c0144t0001g0158 a0157c0080t0003g0121 a0158c0143t0001g0169 a0159c0141t0001g0108 a0160c0078t0001g0117 a0161c0079t0012g0141 a0162c0077t0001g0094 a0163c0098t0001g0122 a0164c0139t0001g0185 a0169c0237t0003g0139 a0171c0107t0001g0097 a0172c0124t0001g0225 a0175c0116t0001g0152 a0176c0135t0001g0077 a0177c0119t0001g0089 a0178c0108t0001g0098 a0188c0074t0001g0092 a0189c0073t0001g0087 a0190c0151t0001g0168 a0191c0150t0001g0090 a0192c0137t0001g0078 a0193c0138t0001g0075 a0194c0136t0001g0107 a0195c0243t0003g0148 a0196c0207t0002g0153 a0197c0057t0001g0068 a0198c0152t0001g0118 a0199c0069t0001g0226 a0201c0154t0001g0110 a0203c0210t0003g0149 a0205c0245t0002g0067 a0206c0066t0001g0183 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114	180	356	0.5056	c.643 others(4): Show c.6436C>G	p.Leu others(7): Show p.Leu2146Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6573/18335	6436/17388	2146/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949024	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.642 others(4): Show c.6427A>G	p.Asn others(7): Show p.Asn2143Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6564/18335	6427/17388	2143/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949033	T T	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.641 others(4): Show c.6418A>T	p.Thr others(7): Show p.Thr2140Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6555/18335	6418/17388	2140/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949036	G G	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.641 others(4): Show c.6415C>A	p.Leu others(7): Show p.Leu2139Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6552/18335	6415/17388	2139/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949043	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.640 others(4): Show c.6408G>C	p.Gln others(7): Show p.Gln2136His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6545/18335	6408/17388	2136/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949045	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.640 others(4): Show c.6406C>G	p.Gln others(7): Show p.Gln2136Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6543/18335	6406/17388	2136/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949049	A A	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.640 others(4): Show c.6402T>G	p.His others(7): Show p.His2134Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6539/18335	6402/17388	2134/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949050	T T	C C	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.640 others(4): Show c.6401A>G	p.His others(7): Show p.His2134Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6538/18335	6401/17388	2134/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949053	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.639 others(4): Show c.6398C>T	p.Ala others(7): Show p.Ala2133Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6535/18335	6398/17388	2133/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949057	T T	C C	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.639 others(4): Show c.6394A>G	p.Ser others(7): Show p.Ser2132Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6531/18335	6394/17388	2132/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949072	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.637 others(4): Show c.6379A>G	p.Arg others(7): Show p.Arg2127Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6516/18335	6379/17388	2127/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949081	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.637 others(4): Show c.6370C>G	p.Gln others(7): Show p.Gln2124Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6507/18335	6370/17388	2124/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949081	G G	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.637 others(4): Show c.6370C>A	p.Gln others(7): Show p.Gln2124Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6507/18335	6370/17388	2124/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949084	C C	T T	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.636 others(4): Show c.6367G>A	p.Val others(7): Show p.Val2123Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6504/18335	6367/17388	2123/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949096	T T	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG03130.hp1 HG03942.hp1 others(3): Show HG02451.hp2 HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 others(1): Show a0018 a0064 a0086 a0203	a0018c0017 a0064c0165 a0086c0188 others(1): Show a0018c0017 a0064c0165 a0086c0188 a0203c0210	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 others(1): Show a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0203c0210t0003	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 others(1): Show a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0203c0210t0003g0149	6	356	0.0169	c.635 others(4): Show c.6355A>G	p.Met others(7): Show p.Met2119Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6492/18335	6355/17388	2119/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949111	C C	G G	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0182 a0182	a0182c0128 a0182c0128	a0182c0128t0002 a0182c0128t0002	a0182c0128t0002g0269 a0182c0128t0002g0269	1	356	0.0028	c.634 others(4): Show c.6340G>C	p.Val others(7): Show p.Val2114Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6477/18335	6340/17388	2114/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949112	C C	A A	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.633 others(4): Show c.6339G>T	p.Glu others(7): Show p.Glu2113Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6476/18335	6339/17388	2113/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949113	T T	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.633 others(4): Show c.6338A>C	p.Glu others(7): Show p.Glu2113Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6475/18335	6338/17388	2113/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949118	A A	T T	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.633 others(4): Show c.6333T>A	p.Asp others(7): Show p.Asp2111Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6470/18335	6333/17388	2111/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949122	G G	T T	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.632 others(4): Show c.6329C>A	p.Pro others(7): Show p.Pro2110His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6466/18335	6329/17388	2110/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949125	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0064 a0086 a0018 a0064 a0086	a0018c0017 a0064c0165 a0086c0188 a0018c0017 a0064c0165 a0086c0188	a0018c0017t0005 a0064c0165t0001 a0086c0188t0002 a0018c0017t0005 a0064c0165t0001 a0086c0188t0002	a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182 a0018c0017t0005g0008 a0064c0165t0001g0247 a0086c0188t0002g0182	5	356	0.0140	c.632 others(4): Show c.6326T>C	p.Val others(7): Show p.Val2109Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6463/18335	6326/17388	2109/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949128	C C	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0086 a0086	a0086c0188 a0086c0188	a0086c0188t0002 a0086c0188t0002	a0086c0188t0002g0182 a0086c0188t0002g0182	1	356	0.0028	c.632 others(4): Show c.6323G>T	p.Arg others(7): Show p.Arg2108Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6460/18335	6323/17388	2108/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949128	C C	G G	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.632 others(4): Show c.6323G>C	p.Arg others(7): Show p.Arg2108Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6460/18335	6323/17388	2108/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949132	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(118): 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 HG02300.hp1 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 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.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 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 NA19081.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0004 a0006 a0009 others(77): Show a0004 a0006 a0009 a0010 a0015 a0016 a0017 a0018 a0019 a0020 a0026 a0027 a0032 a0034 a0035 a0036 a0046 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0064 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 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 a0179 a0180 a0182 a0183 a0195 a0196 a0203 a0205 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(86): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0015c0035 a0015c0122 a0015c0125 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0026c0042 a0027c0189 a0027c0190 a0032c0050 a0034c0048 a0035c0023 a0036c0030 a0046c0032 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 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 a0179c0121 a0180c0120 a0182c0128 a0183c0130 a0195c0243 a0196c0207 a0203c0210 a0205c0245 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(86): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0036c0030t0001 a0046c0032t0002 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 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 a0179c0121t0002 a0180c0120t0002 a0182c0128t0002 a0183c0130t0002 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0205c0245t0002 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(101): 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 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0036c0030t0001g0018 a0046c0032t0002g0019 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 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 a0179c0121t0002g0101 a0180c0120t0002g0279 a0182c0128t0002g0269 a0183c0130t0002g0105 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0205c0245t0002g0067 a0207c0206t0002g0223 a0211c0247t0002g0206	121	356	0.3399	c.631 others(4): Show c.6319A>G	p.Met others(7): Show p.Met2107Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6456/18335	6319/17388	2107/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949137	A A	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0086 a0018 a0086	a0018c0017 a0086c0188 a0018c0017 a0086c0188	a0018c0017t0005 a0086c0188t0002 a0018c0017t0005 a0086c0188t0002	a0018c0017t0005g0008 a0086c0188t0002g0182 a0018c0017t0005g0008 a0086c0188t0002g0182	4	356	0.0112	c.631 others(4): Show c.6314T>C	p.Val others(7): Show p.Val2105Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6451/18335	6314/17388	2105/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949143	G G	T T	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.630 others(4): Show c.6308C>A	p.Pro others(7): Show p.Pro2103His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6445/18335	6308/17388	2103/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949146	T T	C C	missense_variant missense_variant	MODERATE	HG03942.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0086 a0018 a0086	a0018c0017 a0086c0188 a0018c0017 a0086c0188	a0018c0017t0005 a0086c0188t0002 a0018c0017t0005 a0086c0188t0002	a0018c0017t0005g0008 a0086c0188t0002g0182 a0018c0017t0005g0008 a0086c0188t0002g0182	4	356	0.0112	c.630 others(4): Show c.6305A>G	p.Asp others(7): Show p.Asp2102Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6442/18335	6305/17388	2102/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949156	C C	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0148 a0148	a0148c0081 a0148c0081	a0148c0081t0001 a0148c0081t0001	a0148c0081t0001g0283 a0148c0081t0001g0283	1	356	0.0028	c.629 others(4): Show c.6295G>T	p.Asp others(7): Show p.Asp2099Tyr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6432/18335	6295/17388	2099/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949170	T T	C C	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.628 others(4): Show c.6281A>G	p.Lys others(7): Show p.Lys2094Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6418/18335	6281/17388	2094/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949174	T T	C C	missense_variant missense_variant	MODERATE	HG03942.hp1 HG06807.hp1 NA18948.hp2 others(2): Show HG03942.hp1 HG06807.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0063 a0086 a0018 a0063 a0086	a0018c0017 a0063c0168 a0086c0188 a0018c0017 a0063c0168 a0086c0188	a0018c0017t0005 a0063c0168t0001 a0086c0188t0002 a0018c0017t0005 a0063c0168t0001 a0086c0188t0002	a0018c0017t0005g0008 a0063c0168t0001g0248 a0086c0188t0002g0182 a0018c0017t0005g0008 a0063c0168t0001g0248 a0086c0188t0002g0182	5	356	0.0140	c.627 others(4): Show c.6277A>G	p.Ile others(7): Show p.Ile2093Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6414/18335	6277/17388	2093/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949175	G G	T T	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.627 others(4): Show c.6276C>A	p.Asp others(7): Show p.Asp2092Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6413/18335	6276/17388	2092/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949180	C C	T T	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.627 others(4): Show c.6271G>A	p.Val others(7): Show p.Val2091Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6408/18335	6271/17388	2091/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949183	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.626 others(4): Show c.6268C>G	p.Gln others(7): Show p.Gln2090Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6405/18335	6268/17388	2090/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949197	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.625 others(4): Show c.6254A>C	p.Asp others(7): Show p.Asp2085Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6391/18335	6254/17388	2085/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949204	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00733.hp1 HG01099.hp2 others(16): Show HG00639.hp1 HG00733.hp1 HG01099.hp2 HG01255.hp2 HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 NA19030.hp1 NA19030.hp2	a0026 a0036 a0055 others(14): Show a0026 a0036 a0055 a0061 a0062 a0067 a0068 a0071 a0072 a0073 a0085 a0098 a0100 a0101 a0130 a0196 a0205	a0026c0042 a0036c0030 a0055c0205 others(14): Show a0026c0042 a0036c0030 a0055c0205 a0061c0166 a0062c0167 a0067c0058 a0068c0169 a0071c0177 a0072c0178 a0073c0171 a0085c0172 a0098c0204 a0100c0062 a0101c0063 a0130c0075 a0196c0207 a0205c0245	a0026c0042t0002 a0036c0030t0001 a0055c0205t0002 others(14): Show a0026c0042t0002 a0036c0030t0001 a0055c0205t0002 a0061c0166t0002 a0062c0167t0002 a0067c0058t0002 a0068c0169t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0085c0172t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0130c0075t0002 a0196c0207t0002 a0205c0245t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0036c0030t0001g0018 others(15): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0036c0030t0001g0018 a0055c0205t0002g0069 a0061c0166t0002g0293 a0062c0167t0002g0230 a0067c0058t0002g0302 a0068c0169t0002g0071 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0085c0172t0002g0296 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0130c0075t0002g0093 a0196c0207t0002g0153 a0205c0245t0002g0067	19	356	0.0534	c.624 others(4): Show c.6247A>G	p.Lys others(7): Show p.Lys2083Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6384/18335	6247/17388	2083/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949210	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.624 others(4): Show c.6241A>G	p.Met others(7): Show p.Met2081Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6378/18335	6241/17388	2081/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949214	C C	G G	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.623 others(4): Show c.6237G>C	p.Leu others(7): Show p.Leu2079Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6374/18335	6237/17388	2079/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949228	C C	G G	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.622 others(4): Show c.6223G>C	p.Glu others(7): Show p.Glu2075Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6360/18335	6223/17388	2075/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949231	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.622 others(4): Show c.6220G>C	p.Val others(7): Show p.Val2074Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6357/18335	6220/17388	2074/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949252	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0018 a0086 a0018 a0086	a0018c0017 a0086c0188 a0018c0017 a0086c0188	a0018c0017t0005 a0086c0188t0002 a0018c0017t0005 a0086c0188t0002	a0018c0017t0005g0008 a0086c0188t0002g0182 a0018c0017t0005g0008 a0086c0188t0002g0182	4	356	0.0112	c.619 others(4): Show c.6199C>T	p.Leu others(7): Show p.Leu2067Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6336/18335	6199/17388	2067/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949257	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.619 others(4): Show c.6194C>T	p.Ala others(7): Show p.Ala2065Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6331/18335	6194/17388	2065/5795	chr14	TogoVar

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