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	104948501	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.695 others(4): Show c.6950A>G	p.Lys others(7): Show p.Lys2317Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7087/18335	6950/17388	2317/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948508	C C	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0003 a0012c0033t0003	a0012c0033t0003g0156 a0012c0033t0003g0156	1	354	0.0028	c.694 others(4): Show c.6943G>T	p.Asp others(7): Show p.Asp2315Tyr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7080/18335	6943/17388	2315/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948514	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.693 others(4): Show c.6937G>A	p.Ala others(7): Show p.Ala2313Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7074/18335	6937/17388	2313/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948520	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.693 others(4): Show c.6931G>A	p.Val others(7): Show p.Val2311Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7068/18335	6931/17388	2311/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948535	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.691 others(4): Show c.6916C>G	p.Leu others(7): Show p.Leu2306Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7053/18335	6916/17388	2306/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948541	T T	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0063 a0075 a0086 a0063 a0075 a0086	a0063c0111 a0075c0063 a0086c0099 a0063c0111 a0075c0063 a0086c0099	a0063c0111t0002 a0075c0063t0001 a0086c0099t0001 a0063c0111t0002 a0075c0063t0001 a0086c0099t0001	a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216 a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216	3	354	0.0085	c.691 others(4): Show c.6910A>C	p.Met others(7): Show p.Met2304Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7047/18335	6910/17388	2304/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948556	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.689 others(4): Show c.6895C>T	p.Arg others(7): Show p.Arg2299Trp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7032/18335	6895/17388	2299/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948573	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.687 others(4): Show c.6878C>G	p.Ala others(7): Show p.Ala2293Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7015/18335	6878/17388	2293/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948576	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.687 others(4): Show c.6875G>A	p.Gly others(7): Show p.Gly2292Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7012/18335	6875/17388	2292/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948577	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.687 others(4): Show c.6874G>A	p.Gly others(7): Show p.Gly2292Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7011/18335	6874/17388	2292/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948586	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 NA18948.hp2 others(2): Show HG02630.hp2 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0075 a0086 a0016 a0075 a0086	a0016c0019 a0075c0063 a0086c0099 a0016c0019 a0075c0063 a0086c0099	a0016c0019t0005 a0075c0063t0001 a0086c0099t0001 a0016c0019t0005 a0075c0063t0001 a0086c0099t0001	a0016c0019t0005g0014 a0075c0063t0001g0111 a0086c0099t0001g0216 a0016c0019t0005g0014 a0075c0063t0001g0111 a0086c0099t0001g0216	5	353	0.0142	c.686 others(4): Show c.6865A>G	p.Lys others(7): Show p.Lys2289Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7002/18335	6865/17388	2289/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948586	T T	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	349	0.0029	c.686 others(4): Show c.6865A>C	p.Lys others(7): Show p.Lys2289Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7002/18335	6865/17388	2289/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948589	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG01884.hp2 HG02717.hp2 HG02922.hp2 NA20129.hp2	a0055 a0078 a0082 others(1): Show a0055 a0078 a0082 a0114	a0055c0096 a0078c0095 a0082c0047 others(1): Show a0055c0096 a0078c0095 a0082c0047 a0114c0101	a0055c0096t0001 a0078c0095t0001 a0082c0047t0001 others(1): Show a0055c0096t0001 a0078c0095t0001 a0082c0047t0001 a0114c0101t0003	a0055c0096t0001g0255 a0078c0095t0001g0254 a0082c0047t0001g0077 others(1): Show a0055c0096t0001g0255 a0078c0095t0001g0254 a0082c0047t0001g0077 a0114c0101t0003g0251	4	354	0.0113	c.686 others(4): Show c.6862G>A	p.Val others(7): Show p.Val2288Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6999/18335	6862/17388	2288/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948601	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	353	0.0028	c.685 others(4): Show c.6850G>A	p.Val others(7): Show p.Val2284Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6987/18335	6850/17388	2284/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948602	G G	T T	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0068 a0085 a0068 a0085	a0068c0127 a0085c0084 a0068c0127 a0085c0084	a0068c0127t0002 a0085c0084t0002 a0068c0127t0002 a0085c0084t0002	a0068c0127t0002g0145 a0085c0084t0002g0100 a0068c0127t0002g0145 a0085c0084t0002g0100	2	354	0.0056	c.684 others(4): Show c.6849C>A	p.Ser others(7): Show p.Ser2283Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6986/18335	6849/17388	2283/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948609	A A	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.684 others(4): Show c.6842T>A	p.Leu others(7): Show p.Leu2281Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6979/18335	6842/17388	2281/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948633	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.681 others(4): Show c.6818C>T	p.Thr others(7): Show p.Thr2273Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6955/18335	6818/17388	2273/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948638	T T	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	353	0.0028	c.681 others(4): Show c.6813A>C	p.Glu others(7): Show p.Glu2271Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6950/18335	6813/17388	2271/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948642	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0063 a0075 a0086 a0063 a0075 a0086	a0063c0111 a0075c0063 a0086c0099 a0063c0111 a0075c0063 a0086c0099	a0063c0111t0002 a0075c0063t0001 a0086c0099t0001 a0063c0111t0002 a0075c0063t0001 a0086c0099t0001	a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216 a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216	3	354	0.0085	c.680 others(4): Show c.6809T>C	p.Val others(7): Show p.Val2270Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6946/18335	6809/17388	2270/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948643	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.680 others(4): Show c.6808G>A	p.Val others(7): Show p.Val2270Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6945/18335	6808/17388	2270/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948651	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0063 a0075 a0086 a0063 a0075 a0086	a0063c0111 a0075c0063 a0086c0099 a0063c0111 a0075c0063 a0086c0099	a0063c0111t0002 a0075c0063t0001 a0086c0099t0001 a0063c0111t0002 a0075c0063t0001 a0086c0099t0001	a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216 a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216	3	354	0.0085	c.680 others(4): Show c.6800A>G	p.Asp others(7): Show p.Asp2267Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6937/18335	6800/17388	2267/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948670	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.678 others(4): Show c.6781C>G	p.Pro others(7): Show p.Pro2261Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6918/18335	6781/17388	2261/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948679	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 HG02257.hp1 HG02630.hp2 HG03130.hp1	a0063 a0075 a0086 a0063 a0075 a0086	a0063c0111 a0075c0063 a0086c0099 a0063c0111 a0075c0063 a0086c0099	a0063c0111t0002 a0075c0063t0001 a0086c0099t0001 a0063c0111t0002 a0075c0063t0001 a0086c0099t0001	a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216 a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216	3	354	0.0085	c.677 others(4): Show c.6772A>G	p.Ile others(7): Show p.Ile2258Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6909/18335	6772/17388	2258/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948683	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.676 others(4): Show c.6768A>G	p.Ile others(7): Show p.Ile2256Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6905/18335	6768/17388	2256/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948684	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.676 others(4): Show c.6767T>C	p.Ile others(7): Show p.Ile2256Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6904/18335	6767/17388	2256/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948688	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0063 a0086 a0063 a0086	a0063c0111 a0086c0099 a0063c0111 a0086c0099	a0063c0111t0002 a0086c0099t0001 a0063c0111t0002 a0086c0099t0001	a0063c0111t0002g0137 a0086c0099t0001g0216 a0063c0111t0002g0137 a0086c0099t0001g0216	2	354	0.0056	c.676 others(4): Show c.6763G>C	p.Glu others(7): Show p.Glu2255Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6900/18335	6763/17388	2255/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948715	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0063 a0086 a0063 a0086	a0063c0111 a0086c0099 a0063c0111 a0086c0099	a0063c0111t0002 a0086c0099t0001 a0063c0111t0002 a0086c0099t0001	a0063c0111t0002g0137 a0086c0099t0001g0216 a0063c0111t0002g0137 a0086c0099t0001g0216	2	354	0.0056	c.673 others(4): Show c.6736G>A	p.Val others(7): Show p.Val2246Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6873/18335	6736/17388	2246/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948731	C C	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.672 others(4): Show c.6720G>T	p.Gln others(7): Show p.Gln2240His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6857/18335	6720/17388	2240/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948733	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.671 others(4): Show c.6718C>G	p.Gln others(7): Show p.Gln2240Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6855/18335	6718/17388	2240/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948736	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 NA19005.hp1 HG02257.hp1 NA19005.hp1	a0063 a0109 a0063 a0109	a0063c0111 a0109c0117 a0063c0111 a0109c0117	a0063c0111t0002 a0109c0117t0005 a0063c0111t0002 a0109c0117t0005	a0063c0111t0002g0137 a0109c0117t0005g0167 a0063c0111t0002g0137 a0109c0117t0005g0167	2	354	0.0056	c.671 others(4): Show c.6715C>G	p.Leu others(7): Show p.Leu2239Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6852/18335	6715/17388	2239/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948762	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(3): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19005.hp1 NA19081.hp2	a0016 a0063 a0086 others(1): Show a0016 a0063 a0086 a0109	a0016c0019 a0063c0111 a0086c0099 others(1): Show a0016c0019 a0063c0111 a0086c0099 a0109c0117	a0016c0019t0005 a0063c0111t0002 a0086c0099t0001 others(1): Show a0016c0019t0005 a0063c0111t0002 a0086c0099t0001 a0109c0117t0005	a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216 others(1): Show a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216 a0109c0117t0005g0167	6	354	0.0169	c.668 others(4): Show c.6689T>C	p.Val others(7): Show p.Val2230Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6826/18335	6689/17388	2230/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948765	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0063 a0086 a0016 a0063 a0086	a0016c0019 a0063c0111 a0086c0099 a0016c0019 a0063c0111 a0086c0099	a0016c0019t0005 a0063c0111t0002 a0086c0099t0001 a0016c0019t0005 a0063c0111t0002 a0086c0099t0001	a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216 a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216	5	354	0.0141	c.668 others(4): Show c.6686A>G	p.Glu others(7): Show p.Glu2229Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6823/18335	6686/17388	2229/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948771	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.668 others(4): Show c.6680C>T	p.Pro others(7): Show p.Pro2227Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6817/18335	6680/17388	2227/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948777	G G	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.667 others(4): Show c.6674C>A	p.Pro others(7): Show p.Pro2225His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6811/18335	6674/17388	2225/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948786	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0063 a0086 a0063 a0086	a0063c0111 a0086c0099 a0063c0111 a0086c0099	a0063c0111t0002 a0086c0099t0001 a0063c0111t0002 a0086c0099t0001	a0063c0111t0002g0137 a0086c0099t0001g0216 a0063c0111t0002g0137 a0086c0099t0001g0216	2	354	0.0056	c.666 others(4): Show c.6665T>C	p.Leu others(7): Show p.Leu2222Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6802/18335	6665/17388	2222/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948796	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.665 others(4): Show c.6655G>A	p.Val others(7): Show p.Val2219Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6792/18335	6655/17388	2219/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948802	C C	A A	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.664 others(4): Show c.6649G>T	p.Val others(7): Show p.Val2217Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6786/18335	6649/17388	2217/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948817	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.663 others(4): Show c.6634G>C	p.Val others(7): Show p.Val2212Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6771/18335	6634/17388	2212/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948819	T T	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.663 others(4): Show c.6632A>T	p.Lys others(7): Show p.Lys2211Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6769/18335	6632/17388	2211/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948820	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0063 a0086 a0016 a0063 a0086	a0016c0019 a0063c0111 a0086c0099 a0016c0019 a0063c0111 a0086c0099	a0016c0019t0005 a0063c0111t0002 a0086c0099t0001 a0016c0019t0005 a0063c0111t0002 a0086c0099t0001	a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216 a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216	5	354	0.0141	c.663 others(4): Show c.6631A>G	p.Lys others(7): Show p.Lys2211Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6768/18335	6631/17388	2211/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948823	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0063 a0086 a0016 a0063 a0086	a0016c0019 a0063c0111 a0086c0099 a0016c0019 a0063c0111 a0086c0099	a0016c0019t0005 a0063c0111t0002 a0086c0099t0001 a0016c0019t0005 a0063c0111t0002 a0086c0099t0001	a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216 a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216	5	353	0.0142	c.662 others(4): Show c.6628G>C	p.Val others(7): Show p.Val2210Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6765/18335	6628/17388	2210/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948823	C C	T T	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	349	0.0029	c.662 others(4): Show c.6628G>A	p.Val others(7): Show p.Val2210Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6765/18335	6628/17388	2210/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948829	C C	T T	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.662 others(4): Show c.6622G>A	p.Ala others(7): Show p.Ala2208Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6759/18335	6622/17388	2208/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948834	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03130.hp1 NA18948.hp2 others(2): Show HG02257.hp1 HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0063 a0086 a0016 a0063 a0086	a0016c0019 a0063c0111 a0086c0099 a0016c0019 a0063c0111 a0086c0099	a0016c0019t0005 a0063c0111t0002 a0086c0099t0001 a0016c0019t0005 a0063c0111t0002 a0086c0099t0001	a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216 a0016c0019t0005g0014 a0063c0111t0002g0137 a0086c0099t0001g0216	5	295	0.0169	c.661 others(4): Show c.6617T>C	p.Leu others(7): Show p.Leu2206Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6754/18335	6617/17388	2206/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948837	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.661 others(4): Show c.6614C>T	p.Pro others(7): Show p.Pro2205Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6751/18335	6614/17388	2205/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948840	T T	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.661 others(4): Show c.6611A>C	p.Gln others(7): Show p.Gln2204Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6748/18335	6611/17388	2204/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948844	T T	C C	missense_variant missense_variant	MODERATE	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0083 a0086 a0083 a0086	a0083c0073 a0086c0099 a0083c0073 a0086c0099	a0083c0073t0001 a0086c0099t0001 a0083c0073t0001 a0086c0099t0001	a0083c0073t0001g0094 a0086c0099t0001g0216 a0083c0073t0001g0094 a0086c0099t0001g0216	2	354	0.0056	c.660 others(4): Show c.6607A>G	p.Ile others(7): Show p.Ile2203Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6744/18335	6607/17388	2203/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948847	T T	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.660 others(4): Show c.6604A>T	p.Ser others(7): Show p.Ser2202Cys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6741/18335	6604/17388	2202/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948892	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01175.hp1 HG02109.hp1 others(7): Show HG00733.hp1 HG01175.hp1 HG02109.hp1 HG02257.hp1 HG03130.hp1 HG03139.hp1 HG03516.hp2 HG03942.hp1 NA18906.hp1 NA18954.hp2	a0001 a0042 a0062 others(5): Show a0001 a0042 a0062 a0063 a0086 a0093 a0096 a0102	a0001c0001 a0042c0143 a0062c0125 others(5): Show a0001c0001 a0042c0143 a0062c0125 a0063c0111 a0086c0099 a0093c0072 a0096c0121 a0102c0090	a0001c0001t0001 a0042c0143t0002 a0062c0125t0002 others(5): Show a0001c0001t0001 a0042c0143t0002 a0062c0125t0002 a0063c0111t0002 a0086c0099t0001 a0093c0072t0012 a0096c0121t0002 a0102c0090t0001	a0001c0001t0001g0003 a0001c0001t0001g0135 a0001c0001t0001g0136 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0135 a0001c0001t0001g0136 a0042c0143t0002g0076 a0062c0125t0002g0078 a0063c0111t0002g0137 a0086c0099t0001g0216 a0093c0072t0012g0134 a0096c0121t0002g0171 a0102c0090t0001g0113	10	354	0.0282	c.655 others(4): Show c.6559A>G	p.Met others(7): Show p.Met2187Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6696/18335	6559/17388	2187/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948903	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03098.hp1 HG03471.hp1 HG02451.hp1 HG03098.hp1 HG03471.hp1	a0012 a0066 a0012 a0066	a0012c0033 a0066c0107 a0012c0033 a0066c0107	a0012c0033t0003 a0066c0107t0002 a0012c0033t0003 a0066c0107t0002	a0012c0033t0003g0156 a0012c0033t0003g0162 a0066c0107t0002g0174 a0012c0033t0003g0156 a0012c0033t0003g0162 a0066c0107t0002g0174	3	354	0.0085	c.654 others(4): Show c.6548T>C	p.Val others(7): Show p.Val2183Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6685/18335	6548/17388	2183/5795	chr14	TogoVar

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