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	104950530	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03453.hp2 HG03486.hp2 others(1): Show HG03130.hp1 HG03453.hp2 HG03486.hp2 NA19043.hp1	a0001 a0013 a0014 others(1): Show a0001 a0013 a0014 a0086	a0001c0001 a0013c0060 a0014c0081 others(1): Show a0001c0001 a0013c0060 a0014c0081 a0086c0099	a0001c0001t0001 a0013c0060t0001 a0014c0081t0003 others(1): Show a0001c0001t0001 a0013c0060t0001 a0014c0081t0003 a0086c0099t0001	a0001c0001t0001g0117 a0013c0060t0001g0118 a0014c0081t0003g0116 others(1): Show a0001c0001t0001g0117 a0013c0060t0001g0118 a0014c0081t0003g0116 a0086c0099t0001g0216	4	354	0.0113	c.492 others(4): Show c.4921G>C	p.Glu others(7): Show p.Glu1641Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5058/18335	4921/17388	1641/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950534	C C	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.491 others(4): Show c.4917G>T	p.Gln others(7): Show p.Gln1639His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5054/18335	4917/17388	1639/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950535	T T	C C	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(53): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01167.hp2 HG01175.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA20129.hp1	a0001 a0003 a0006 others(23): Show a0001 a0003 a0006 a0012 a0016 a0017 a0027 a0028 a0034 a0040 a0046 a0048 a0054 a0066 a0071 a0075 a0081 a0088 a0090 a0091 a0094 a0104 a0105 a0106 a0108 a0109	a0001c0001 a0001c0002 a0003c0004 others(28): Show a0001c0001 a0001c0002 a0003c0004 a0003c0119 a0006c0007 a0012c0033 a0012c0108 a0012c0109 a0016c0113 a0017c0013 a0027c0034 a0028c0118 a0028c0120 a0034c0031 a0040c0123 a0046c0102 a0048c0112 a0054c0097 a0066c0107 a0071c0148 a0075c0063 a0081c0124 a0088c0104 a0090c0098 a0091c0126 a0094c0139 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117	a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 others(29): Show a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0006c0007t0002 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0016c0113t0002 a0017c0013t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0048c0112t0002 a0054c0097t0002 a0066c0107t0002 a0071c0148t0002 a0075c0063t0001 a0081c0124t0002 a0088c0104t0002 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005	a0001c0001t0001g0245 a0001c0002t0001g0001 a0003c0004t0002g0009 others(44): Show a0001c0001t0001g0245 a0001c0002t0001g0001 a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0048c0112t0002g0151 a0054c0097t0002g0247 a0066c0107t0002g0174 a0071c0148t0002g0083 a0075c0063t0001g0111 a0081c0124t0002g0246 a0088c0104t0002g0215 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167	56	353	0.1586	c.491 others(4): Show c.4916A>G	p.Gln others(7): Show p.Gln1639Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5053/18335	4916/17388	1639/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950538	G G	A A	missense_variant missense_variant	MODERATE	NA18980.hp1 NA19043.hp2 NA18980.hp1 NA19043.hp2	a0001 a0112 a0001 a0112	a0001c0002 a0112c0132 a0001c0002 a0112c0132	a0001c0002t0001 a0112c0132t0015 a0001c0002t0001 a0112c0132t0015	a0001c0002t0001g0122 a0112c0132t0015g0258 a0001c0002t0001g0122 a0112c0132t0015g0258	2	349	0.0057	c.491 others(4): Show c.4913C>T	p.Ala others(7): Show p.Ala1638Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5050/18335	4913/17388	1638/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950538	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(1): Show a0016 a0034 a0046 a0054	a0016c0113 a0034c0031 a0046c0102 others(1): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(1): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(2): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247	5	352	0.0142	c.491 others(4): Show c.4913C>G	p.Ala others(7): Show p.Ala1638Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5050/18335	4913/17388	1638/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950542	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.490 others(4): Show c.4909G>A	p.Gly others(7): Show p.Gly1637Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5046/18335	4909/17388	1637/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950557	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(7): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0016 a0022 a0034 others(4): Show a0016 a0022 a0034 a0046 a0054 a0075 a0096	a0016c0113 a0022c0020 a0034c0031 others(4): Show a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0096c0121	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(4): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0096c0121t0002	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(5): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0096c0121t0002g0171	10	354	0.0282	c.489 others(4): Show c.4894A>G	p.Arg others(7): Show p.Arg1632Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5031/18335	4894/17388	1632/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950566	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(3): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(2): Show a0016 a0034 a0046 a0054 a0075	a0016c0113 a0034c0031 a0046c0102 others(2): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(2): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(3): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111	6	354	0.0169	c.488 others(4): Show c.4885C>G	p.Gln others(7): Show p.Gln1629Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5022/18335	4885/17388	1629/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950569	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.488 others(4): Show c.4882G>A	p.Val others(7): Show p.Val1628Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5019/18335	4882/17388	1628/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950574	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0079 a0079	a0079c0043 a0079c0043	a0079c0043t0001 a0079c0043t0001	a0079c0043t0001g0074 a0079c0043t0001g0074	1	354	0.0028	c.487 others(4): Show c.4877T>C	p.Val others(7): Show p.Val1626Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5014/18335	4877/17388	1626/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950581	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(9): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02486.hp1 HG02630.hp2 HG03017.hp2 HG03195.hp2 HG03927.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0011 a0016 a0022 others(5): Show a0011 a0016 a0022 a0034 a0046 a0054 a0075 a0096	a0011c0018 a0016c0113 a0022c0020 others(5): Show a0011c0018 a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0096c0121	a0011c0018t0001 a0016c0113t0002 a0022c0020t0002 others(5): Show a0011c0018t0001 a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0096c0121t0002	a0011c0018t0001g0084 a0011c0018t0001g0102 a0016c0113t0002g0175 others(7): Show a0011c0018t0001g0084 a0011c0018t0001g0102 a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0096c0121t0002g0171	12	354	0.0339	c.487 others(4): Show c.4870A>G	p.Met others(7): Show p.Met1624Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5007/18335	4870/17388	1624/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950587	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(8): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0016 a0022 a0034 others(5): Show a0016 a0022 a0034 a0046 a0054 a0075 a0086 a0096	a0016c0113 a0022c0020 a0034c0031 others(5): Show a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0096c0121	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(5): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(6): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	11	352	0.0313	c.486 others(4): Show c.4864T>C	p.Ser others(7): Show p.Ser1622Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5001/18335	4864/17388	1622/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950589	A A	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.486 others(4): Show c.4862T>A	p.Leu others(7): Show p.Leu1621Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4999/18335	4862/17388	1621/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950594	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(1): Show a0016 a0034 a0046 a0054	a0016c0113 a0034c0031 a0046c0102 others(1): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(1): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(2): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247	5	354	0.0141	c.485 others(4): Show c.4857G>T	p.Met others(7): Show p.Met1619Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4994/18335	4857/17388	1619/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950596	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(8): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0016 a0022 a0034 others(5): Show a0016 a0022 a0034 a0046 a0054 a0075 a0086 a0096	a0016c0113 a0022c0020 a0034c0031 others(5): Show a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0096c0121	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(5): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(6): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	11	354	0.0311	c.485 others(4): Show c.4855A>G	p.Met others(7): Show p.Met1619Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4992/18335	4855/17388	1619/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950597	C C	A A	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.485 others(4): Show c.4854G>T	p.Lys others(7): Show p.Lys1618Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4991/18335	4854/17388	1618/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950598	T T	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.485 others(4): Show c.4853A>C	p.Lys others(7): Show p.Lys1618Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4990/18335	4853/17388	1618/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950599	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(8): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0016 a0022 a0034 others(5): Show a0016 a0022 a0034 a0046 a0054 a0075 a0086 a0096	a0016c0113 a0022c0020 a0034c0031 others(5): Show a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0096c0121	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(5): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(6): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	11	354	0.0311	c.485 others(4): Show c.4852A>G	p.Lys others(7): Show p.Lys1618Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4989/18335	4852/17388	1618/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950603	A A	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	353	0.0113	c.484 others(4): Show c.4848T>A	p.Asp others(7): Show p.Asp1616Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4985/18335	4848/17388	1616/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950607	G G	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.484 others(4): Show c.4844C>A	p.Pro others(7): Show p.Pro1615His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4981/18335	4844/17388	1615/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950610	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.484 others(4): Show c.4841C>T	p.Ala others(7): Show p.Ala1614Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4978/18335	4841/17388	1614/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950613	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	353	0.0028	c.483 others(4): Show c.4838C>T	p.Thr others(7): Show p.Thr1613Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4975/18335	4838/17388	1613/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950613	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	353	0.0028	c.483 others(4): Show c.4838C>G	p.Thr others(7): Show p.Thr1613Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4975/18335	4838/17388	1613/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950618	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	350	0.0029	c.483 others(4): Show c.4833A>C	p.Glu others(7): Show p.Glu1611Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4970/18335	4833/17388	1611/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950622	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.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 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(59): Show a0002 a0003 a0004 a0006 a0008 a0010 a0012 a0014 a0017 a0018 a0019 a0020 a0022 a0026 a0027 a0028 a0031 a0032 a0035 a0040 a0041 a0042 a0044 a0045 a0047 a0048 a0049 a0050 a0055 a0062 a0063 a0066 a0067 a0068 a0069 a0071 a0074 a0075 a0077 a0079 a0081 a0082 a0084 a0085 a0088 a0089 a0090 a0091 a0094 a0096 a0097 a0099 a0100 a0104 a0105 a0106 a0108 a0109 a0110 a0111 a0112 a0116	a0002c0003 a0002c0005 a0002c0036 others(74): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0008c0010 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0144 a0017c0013 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0020c0032 a0020c0110 a0022c0020 a0026c0128 a0026c0129 a0027c0034 a0028c0118 a0028c0120 a0031c0137 a0031c0138 a0032c0021 a0035c0035 a0040c0123 a0041c0053 a0042c0143 a0044c0131 a0045c0140 a0047c0094 a0048c0112 a0049c0135 a0050c0106 a0055c0096 a0062c0125 a0063c0111 a0066c0107 a0067c0130 a0068c0127 a0069c0136 a0071c0148 a0074c0103 a0075c0063 a0077c0105 a0079c0043 a0081c0124 a0082c0047 a0084c0054 a0085c0084 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0094c0139 a0096c0121 a0097c0122 a0099c0145 a0100c0093 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0112c0132 a0116c0055	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(77): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0008c0010t0003 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0144t0003 a0017c0013t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0026c0128t0002 a0026c0129t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0031c0137t0007 a0031c0138t0002 a0032c0021t0009 a0035c0035t0002 a0035c0035t0007 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0047c0094t0013 a0048c0112t0002 a0049c0135t0002 a0050c0106t0002 a0055c0096t0001 a0062c0125t0002 a0063c0111t0002 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0069c0136t0002 a0071c0148t0002 a0074c0103t0002 a0075c0063t0001 a0077c0105t0002 a0079c0043t0001 a0081c0124t0002 a0082c0047t0001 a0084c0054t0003 a0085c0084t0002 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0096c0121t0002 a0097c0122t0002 a0099c0145t0003 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0112c0132t0015 a0116c0055t0003	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(121): Show a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0144t0003g0128 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0026c0128t0002g0204 a0026c0129t0002g0205 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0031c0137t0007g0221 a0031c0138t0002g0222 a0032c0021t0009g0058 a0032c0021t0009g0059 a0035c0035t0002g0075 a0035c0035t0007g0220 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0047c0094t0013g0123 a0048c0112t0002g0151 a0049c0135t0002g0073 a0050c0106t0002g0250 a0055c0096t0001g0255 a0062c0125t0002g0078 a0063c0111t0002g0137 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0069c0136t0002g0257 a0071c0148t0002g0083 a0074c0103t0002g0080 a0075c0063t0001g0111 a0077c0105t0002g0133 a0079c0043t0001g0074 a0081c0124t0002g0246 a0082c0047t0001g0077 a0084c0054t0003g0149 a0085c0084t0002g0100 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0096c0121t0002g0171 a0097c0122t0002g0180 a0099c0145t0003g0139 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0112c0132t0015g0258 a0116c0055t0003g0148	153	354	0.4322	c.482 others(4): Show c.4829T>C	p.Val others(7): Show p.Val1610Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4966/18335	4829/17388	1610/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950623	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.482 others(4): Show c.4828G>A	p.Val others(7): Show p.Val1610Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4965/18335	4828/17388	1610/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950628	G G	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.482 others(4): Show c.4823C>A	p.Pro others(7): Show p.Pro1608His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4960/18335	4823/17388	1608/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950631	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0086 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0086c0099 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0086c0099t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0086c0099t0001g0216 a0114c0101t0003g0251	8	354	0.0226	c.482 others(4): Show c.4820G>A	p.Gly others(7): Show p.Gly1607Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4957/18335	4820/17388	1607/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950634	T T	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(23): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG02040.hp2 HG02083.hp1 HG02273.hp1 HG03834.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19058.hp2 NA19065.hp1	a0003 a0006 a0017 others(7): Show a0003 a0006 a0017 a0028 a0040 a0104 a0105 a0106 a0108 a0109	a0003c0004 a0003c0119 a0006c0007 others(8): Show a0003c0004 a0003c0119 a0006c0007 a0017c0013 a0028c0120 a0040c0123 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(9): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0006c0007t0002 a0017c0013t0002 a0028c0120t0002 a0040c0123t0005 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(18): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0006c0007t0002g0187 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0028c0120t0002g0179 a0040c0123t0005g0182 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167	26	354	0.0734	c.481 others(4): Show c.4817A>C	p.Lys others(7): Show p.Lys1606Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4954/18335	4817/17388	1606/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950644	G G	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.480 others(4): Show c.4807C>G	p.Leu others(7): Show p.Leu1603Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4944/18335	4807/17388	1603/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950645	C C	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	353	0.0028	c.480 others(4): Show c.4806G>C	p.Lys others(7): Show p.Lys1602Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4943/18335	4806/17388	1602/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950655	T T	C C	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.479 others(4): Show c.4796A>G	p.Lys others(7): Show p.Lys1599Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4933/18335	4796/17388	1599/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950659	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0086 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0086c0099 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0086c0099t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0086c0099t0001g0216 a0114c0101t0003g0251	8	354	0.0226	c.479 others(4): Show c.4792G>A	p.Val others(7): Show p.Val1598Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4929/18335	4792/17388	1598/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950660	A A	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	346	0.0116	c.479 others(4): Show c.4791T>A	p.Asp others(7): Show p.Asp1597Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4928/18335	4791/17388	1597/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950663	T T	C C	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03130.hp1 HG03942.hp1 others(2): Show HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0086 a0096 a0022 a0086 a0096	a0022c0020 a0086c0099 a0096c0121 a0022c0020 a0086c0099 a0096c0121	a0022c0020t0002 a0086c0099t0001 a0096c0121t0002 a0022c0020t0002 a0086c0099t0001 a0096c0121t0002	a0022c0020t0002g0015 a0086c0099t0001g0216 a0096c0121t0002g0171 a0022c0020t0002g0015 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.478 others(4): Show c.4788A>G	p.Ile others(7): Show p.Ile1596Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4925/18335	4788/17388	1596/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950665	T T	C C	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03130.hp1 HG03942.hp1 others(2): Show HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0086 a0096 a0022 a0086 a0096	a0022c0020 a0086c0099 a0096c0121 a0022c0020 a0086c0099 a0096c0121	a0022c0020t0002 a0086c0099t0001 a0096c0121t0002 a0022c0020t0002 a0086c0099t0001 a0096c0121t0002	a0022c0020t0002g0015 a0086c0099t0001g0216 a0096c0121t0002g0171 a0022c0020t0002g0015 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.478 others(4): Show c.4786A>G	p.Ile others(7): Show p.Ile1596Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4923/18335	4786/17388	1596/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950668	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	c.478 others(4): Show c.4783C>G	p.Gln others(7): Show p.Gln1595Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4920/18335	4783/17388	1595/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950689	T T	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 NA18950.hp1 HG03688.hp1 NA18950.hp1	a0007 a0094 a0007 a0094	a0007c0008 a0094c0139 a0007c0008 a0094c0139	a0007c0008t0001 a0094c0139t0002 a0007c0008t0001 a0094c0139t0002	a0007c0008t0001g0189 a0094c0139t0002g0207 a0007c0008t0001g0189 a0094c0139t0002g0207	2	354	0.0056	c.476 others(4): Show c.4762A>G	p.Lys others(7): Show p.Lys1588Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4899/18335	4762/17388	1588/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950695	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	c.475 others(4): Show c.4756A>G	p.Met others(7): Show p.Met1586Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4893/18335	4756/17388	1586/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950699	G G	C C	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.475 others(4): Show c.4752C>G	p.Phe others(7): Show p.Phe1584Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4889/18335	4752/17388	1584/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950716	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0075 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0114c0101t0003g0251	8	354	0.0226	c.473 others(4): Show c.4735G>C	p.Val others(7): Show p.Val1579Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4872/18335	4735/17388	1579/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950737	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.471 others(4): Show c.4714C>T	p.Leu others(7): Show p.Leu1572Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4851/18335	4714/17388	1572/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950749	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp2 NA18941.hp1 HG02056.hp2 NA18941.hp1	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0027 a0030c0028t0001g0027	2	354	0.0056	c.470 others(4): Show c.4702G>A	p.Glu others(7): Show p.Glu1568Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4839/18335	4702/17388	1568/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950752	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02056.hp1 others(10): Show HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0016 a0022 a0034 others(7): Show a0016 a0022 a0034 a0046 a0054 a0075 a0078 a0094 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(7): Show a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0094c0139 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(7): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(8): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251	13	354	0.0367	c.469 others(4): Show c.4699T>C	p.Ser others(7): Show p.Ser1567Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4836/18335	4699/17388	1567/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950757	G G	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.469 others(4): Show c.4694C>A	p.Pro others(7): Show p.Pro1565His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4831/18335	4694/17388	1565/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950766	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(60): Show HG00099.hp1 HG00099.hp2 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.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp1 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.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18953.hp1 NA18954.hp1 NA19002.hp1 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0009 a0018 others(13): Show a0002 a0009 a0018 a0019 a0022 a0026 a0031 a0035 a0044 a0045 a0049 a0069 a0096 a0097 a0101 a0112	a0002c0003 a0002c0005 a0002c0036 others(22): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0022c0020 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0044c0131 a0045c0140 a0049c0135 a0069c0136 a0096c0121 a0097c0122 a0101c0141 a0112c0132	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(24): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0022c0020t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0069c0136t0002 a0096c0121t0002 a0097c0122t0002 a0101c0141t0002 a0112c0132t0015	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(39): Show 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 a0022c0020t0002g0015 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0069c0136t0002g0257 a0096c0121t0002g0171 a0097c0122t0002g0180 a0101c0141t0002g0219 a0112c0132t0015g0258	63	354	0.1780	c.468 others(4): Show c.4685C>T	p.Pro others(7): Show p.Pro1562Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4822/18335	4685/17388	1562/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950782	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	c.466 others(4): Show c.4669G>T	p.Val others(7): Show p.Val1557Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4806/18335	4669/17388	1557/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950792	C C	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.465 others(4): Show c.4659G>C	p.Gln others(7): Show p.Gln1553His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4796/18335	4659/17388	1553/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950797	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	c.465 others(4): Show c.4654G>C	p.Val others(7): Show p.Val1552Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4791/18335	4654/17388	1552/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950809	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	c.464 others(4): Show c.4642G>A	p.Ala others(7): Show p.Ala1548Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4779/18335	4642/17388	1548/5795	chr14	TogoVar

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