Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	104949197	T T	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	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	a0020 a0033 a0041 others(13): Show a0020 a0033 a0041 a0042 a0050 a0054 a0062 a0063 a0068 a0074 a0077 a0081 a0085 a0090 a0110 a0111	a0020c0032 a0020c0110 a0033c0025 others(14): Show a0020c0032 a0020c0110 a0033c0025 a0041c0053 a0042c0143 a0050c0106 a0054c0097 a0062c0125 a0063c0111 a0068c0127 a0074c0103 a0077c0105 a0081c0124 a0085c0084 a0090c0098 a0110c0048 a0111c0052	a0020c0032t0002 a0020c0110t0002 a0033c0025t0001 others(14): Show a0020c0032t0002 a0020c0110t0002 a0033c0025t0001 a0041c0053t0002 a0042c0143t0002 a0050c0106t0002 a0054c0097t0002 a0062c0125t0002 a0063c0111t0002 a0068c0127t0002 a0074c0103t0002 a0077c0105t0002 a0081c0124t0002 a0085c0084t0002 a0090c0098t0002 a0110c0048t0002 a0111c0052t0002	a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 others(15): Show a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0033c0025t0001g0023 a0041c0053t0002g0147 a0042c0143t0002g0076 a0050c0106t0002g0250 a0054c0097t0002g0247 a0062c0125t0002g0078 a0063c0111t0002g0137 a0068c0127t0002g0145 a0074c0103t0002g0080 a0077c0105t0002g0133 a0081c0124t0002g0246 a0085c0084t0002g0100 a0090c0098t0002g0203 a0110c0048t0002g0256 a0111c0052t0002g0146	19	354	0.0537	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	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	a0016 a0075 a0086 others(1): Show a0016 a0075 a0086 a0096	a0016c0019 a0075c0063 a0086c0099 others(1): Show a0016c0019 a0075c0063 a0086c0099 a0096c0121	a0016c0019t0005 a0075c0063t0001 a0086c0099t0001 others(1): Show a0016c0019t0005 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0075c0063t0001g0111 a0086c0099t0001g0216 others(1): Show a0016c0019t0005g0014 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	6	354	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0016 a0096 a0016 a0096	a0016c0019 a0096c0121 a0016c0019 a0096c0121	a0016c0019t0005 a0096c0121t0002 a0016c0019t0005 a0096c0121t0002	a0016c0019t0005g0014 a0096c0121t0002g0171 a0016c0019t0005g0014 a0096c0121t0002g0171	4	354	0.0113	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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
AHNAK2_chr14_104932253_104983374	104949260	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	349	0.0029	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	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0159 a0001c0002t0001g0001 a0001c0002t0001g0159	5	353	0.0142	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	a0003 a0004 a0005 others(48): Show a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0014 a0016 a0017 a0020 a0022 a0025 a0027 a0028 a0034 a0040 a0041 a0042 a0046 a0047 a0048 a0050 a0054 a0059 a0062 a0063 a0064 a0066 a0067 a0068 a0071 a0074 a0077 a0081 a0084 a0085 a0088 a0089 a0090 a0091 a0094 a0099 a0100 a0104 a0105 a0108 a0109 a0110 a0111 a0116	a0003c0004 a0003c0119 a0004c0006 others(56): Show a0003c0004 a0003c0119 a0004c0006 a0005c0011 a0005c0017 a0005c0083 a0006c0007 a0008c0010 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0144 a0016c0113 a0017c0013 a0020c0032 a0020c0110 a0022c0020 a0025c0030 a0027c0034 a0028c0118 a0028c0120 a0034c0031 a0040c0123 a0041c0053 a0042c0143 a0046c0102 a0047c0094 a0048c0112 a0050c0106 a0054c0097 a0059c0078 a0062c0125 a0063c0111 a0064c0079 a0066c0107 a0067c0130 a0068c0127 a0071c0148 a0074c0103 a0077c0105 a0081c0124 a0084c0054 a0085c0084 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0094c0139 a0099c0145 a0100c0093 a0104c0149 a0105c0115 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0116c0055	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(57): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0011t0002 a0005c0017t0002 a0005c0083t0002 a0006c0007t0002 a0008c0010t0003 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0144t0003 a0016c0113t0002 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0025c0030t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0034c0031t0002 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0054c0097t0002 a0059c0078t0002 a0062c0125t0002 a0063c0111t0002 a0064c0079t0002 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0071c0148t0002 a0074c0103t0002 a0077c0105t0002 a0081c0124t0002 a0084c0054t0003 a0085c0084t0002 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0099c0145t0003 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0116c0055t0003	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(87): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0017t0002g0012 a0005c0083t0002g0232 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0144t0003g0128 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0025c0030t0002g0026 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0054c0097t0002g0247 a0059c0078t0002g0099 a0062c0125t0002g0078 a0063c0111t0002g0137 a0064c0079t0002g0085 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0071c0148t0002g0083 a0074c0103t0002g0080 a0077c0105t0002g0133 a0081c0124t0002g0246 a0084c0054t0003g0149 a0085c0084t0002g0100 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0099c0145t0003g0139 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0116c0055t0003g0148	112	353	0.3173	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	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	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	a0016 a0086 a0016 a0086	a0016c0019 a0086c0099 a0016c0019 a0086c0099	a0016c0019t0005 a0086c0099t0001 a0016c0019t0005 a0086c0099t0001	a0016c0019t0005g0014 a0086c0099t0001g0216 a0016c0019t0005g0014 a0086c0099t0001g0216	4	354	0.0113	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	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	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	a0016 a0075 a0086 others(1): Show a0016 a0075 a0086 a0096	a0016c0019 a0075c0063 a0086c0099 others(1): Show a0016c0019 a0075c0063 a0086c0099 a0096c0121	a0016c0019t0005 a0075c0063t0001 a0086c0099t0001 others(1): Show a0016c0019t0005 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0075c0063t0001g0111 a0086c0099t0001g0216 others(1): Show a0016c0019t0005g0014 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	6	354	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	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	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	a0016 a0075 a0096 a0016 a0075 a0096	a0016c0019 a0075c0063 a0096c0121 a0016c0019 a0075c0063 a0096c0121	a0016c0019t0005 a0075c0063t0001 a0096c0121t0002 a0016c0019t0005 a0075c0063t0001 a0096c0121t0002	a0016c0019t0005g0014 a0075c0063t0001g0111 a0096c0121t0002g0171 a0016c0019t0005g0014 a0075c0063t0001g0111 a0096c0121t0002g0171	5	354	0.0141	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	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	a0102 a0102	a0102c0090 a0102c0090	a0102c0090t0001 a0102c0090t0001	a0102c0090t0001g0113 a0102c0090t0001g0113	1	354	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	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0041 a0041	a0041c0053 a0041c0053	a0041c0053t0002 a0041c0053t0002	a0041c0053t0002g0147 a0041c0053t0002g0147	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0002 a0088 a0002 a0088	a0002c0005 a0088c0104 a0002c0005 a0088c0104	a0002c0005t0002 a0088c0104t0002 a0002c0005t0002 a0088c0104t0002	a0002c0005t0002g0067 a0088c0104t0002g0215 a0002c0005t0002g0067 a0088c0104t0002g0215	2	354	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	a0055 a0055	a0055c0096 a0055c0096	a0055c0096t0001 a0055c0096t0001	a0055c0096t0001g0255 a0055c0096t0001g0255	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	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(57): 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	a0001 a0002 a0009 others(13): Show a0001 a0002 a0009 a0018 a0019 a0026 a0031 a0035 a0044 a0045 a0049 a0060 a0069 a0097 a0101 a0112	a0001c0001 a0002c0003 a0002c0005 others(22): Show a0001c0001 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0044c0131 a0045c0140 a0049c0135 a0060c0142 a0069c0136 a0097c0122 a0101c0141 a0112c0132	a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 others(24): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0060c0142t0002 a0069c0136t0002 a0097c0122t0002 a0101c0141t0002 a0112c0132t0015	a0001c0001t0001g0061 a0002c0003t0002g0006 a0002c0003t0002g0038 others(39): Show a0001c0001t0001g0061 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0009c0009t0002g0005 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0060c0142t0002g0225 a0069c0136t0002g0257 a0097c0122t0002g0180 a0101c0141t0002g0219 a0112c0132t0015g0258	60	354	0.1695	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(65): 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	a0001 a0002 a0009 others(20): Show a0001 a0002 a0009 a0014 a0018 a0019 a0025 a0026 a0031 a0035 a0041 a0044 a0045 a0046 a0049 a0060 a0069 a0075 a0082 a0096 a0097 a0101 a0112	a0001c0001 a0002c0003 a0002c0005 others(29): Show a0001c0001 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0014c0144 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0025c0030 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0041c0053 a0044c0131 a0045c0140 a0046c0102 a0049c0135 a0060c0142 a0069c0136 a0075c0063 a0082c0047 a0096c0121 a0097c0122 a0101c0141 a0112c0132	a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 others(31): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0014c0144t0003 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0025c0030t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0041c0053t0002 a0044c0131t0002 a0045c0140t0002 a0046c0102t0002 a0049c0135t0002 a0060c0142t0002 a0069c0136t0002 a0075c0063t0001 a0082c0047t0001 a0096c0121t0002 a0097c0122t0002 a0101c0141t0002 a0112c0132t0015	a0001c0001t0001g0061 a0002c0003t0002g0006 a0002c0003t0002g0038 others(46): Show a0001c0001t0001g0061 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0009c0009t0002g0005 a0014c0144t0003g0128 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0025c0030t0002g0026 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0041c0053t0002g0147 a0044c0131t0002g0070 a0045c0140t0002g0253 a0046c0102t0002g0170 a0049c0135t0002g0073 a0060c0142t0002g0225 a0069c0136t0002g0257 a0075c0063t0001g0111 a0082c0047t0001g0077 a0096c0121t0002g0171 a0097c0122t0002g0180 a0101c0141t0002g0219 a0112c0132t0015g0258	68	354	0.1921	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	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	354	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	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	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	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0186 a0002c0003t0007g0186	1	354	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	a0033 a0034 a0046 others(2): Show a0033 a0034 a0046 a0065 a0096	a0033c0025 a0034c0031 a0046c0102 others(2): Show a0033c0025 a0034c0031 a0046c0102 a0065c0088 a0096c0121	a0033c0025t0001 a0034c0031t0002 a0046c0102t0002 others(2): Show a0033c0025t0001 a0034c0031t0002 a0046c0102t0002 a0065c0088t0001 a0096c0121t0002	a0033c0025t0001g0023 a0034c0031t0002g0169 a0034c0031t0002g0188 others(3): Show a0033c0025t0001g0023 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0065c0088t0001g0096 a0096c0121t0002g0171	7	354	0.0198	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	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	353	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	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	353	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	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	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	a0034 a0046 a0096 a0034 a0046 a0096	a0034c0031 a0046c0102 a0096c0121 a0034c0031 a0046c0102 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0096c0121t0002 a0034c0031t0002 a0046c0102t0002 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0096c0121t0002g0171	4	354	0.0113	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	a0034 a0046 a0071 a0034 a0046 a0071	a0034c0031 a0046c0102 a0071c0148 a0034c0031 a0046c0102 a0071c0148	a0034c0031t0002 a0046c0102t0002 a0071c0148t0002 a0034c0031t0002 a0046c0102t0002 a0071c0148t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0071c0148t0002g0083	4	354	0.0113	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	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	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	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	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	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	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	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

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