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	104947016	T T	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 HG02258.hp1 HG02717.hp1 others(1): Show HG01255.hp2 HG02258.hp1 HG02717.hp1 HG03041.hp2	a0020 a0050 a0077 a0020 a0050 a0077	a0020c0032 a0050c0106 a0077c0105 a0020c0032 a0050c0106 a0077c0105	a0020c0032t0002 a0050c0106t0002 a0077c0105t0002 a0020c0032t0002 a0050c0106t0002 a0077c0105t0002	a0020c0032t0002g0119 a0020c0032t0002g0249 a0050c0106t0002g0250 others(1): Show a0020c0032t0002g0119 a0020c0032t0002g0249 a0050c0106t0002g0250 a0077c0105t0002g0133	4	354	0.0113	c.843 others(4): Show c.8435A>T	p.Lys others(7): Show p.Lys2812Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8572/18335	8435/17388	2812/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947035	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.841 others(4): Show c.8416A>G	p.Met others(7): Show p.Met2806Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8553/18335	8416/17388	2806/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947037	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.841 others(4): Show c.8414G>A	p.Gly others(7): Show p.Gly2805Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8551/18335	8414/17388	2805/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947073	G G	C C	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.837 others(4): Show c.8378C>G	p.Ala others(7): Show p.Ala2793Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8515/18335	8378/17388	2793/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947076	C C	G G	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.837 others(4): Show c.8375G>C	p.Gly others(7): Show p.Gly2792Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8512/18335	8375/17388	2792/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947091	C C	T T	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.836 others(4): Show c.8360G>A	p.Arg others(7): Show p.Arg2787Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8497/18335	8360/17388	2787/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947101	G G	C C	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.835 others(4): Show c.8350C>G	p.Gln others(7): Show p.Gln2784Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8487/18335	8350/17388	2784/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947116	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.833 others(4): Show c.8335A>G	p.Met others(7): Show p.Met2779Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8472/18335	8335/17388	2779/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947122	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.832 others(4): Show c.8329T>C	p.Ser others(7): Show p.Ser2777Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8466/18335	8329/17388	2777/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947131	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.832 others(4): Show c.8320A>G	p.Met others(7): Show p.Met2774Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8457/18335	8320/17388	2774/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947134	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.831 others(4): Show c.8317A>G	p.Lys others(7): Show p.Lys2773Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8454/18335	8317/17388	2773/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947145	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.830 others(4): Show c.8306C>T	p.Ala others(7): Show p.Ala2769Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8443/18335	8306/17388	2769/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947148	G G	C C	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.830 others(4): Show c.8303C>G	p.Thr others(7): Show p.Thr2768Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8440/18335	8303/17388	2768/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947179	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp2 HG02896.hp1 others(2): Show HG02630.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0074 a0075 others(1): Show a0032 a0074 a0075 a0086	a0032c0021 a0074c0103 a0075c0063 others(1): Show a0032c0021 a0074c0103 a0075c0063 a0086c0099	a0032c0021t0009 a0074c0103t0002 a0075c0063t0001 others(1): Show a0032c0021t0009 a0074c0103t0002 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0074c0103t0002g0080 others(2): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0074c0103t0002g0080 a0075c0063t0001g0111 a0086c0099t0001g0216	5	354	0.0141	c.827 others(4): Show c.8272G>C	p.Val others(7): Show p.Val2758Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8409/18335	8272/17388	2758/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947180	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp2 HG02896.hp1 others(2): Show HG02630.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0074 a0075 others(1): Show a0032 a0074 a0075 a0086	a0032c0021 a0074c0103 a0075c0063 others(1): Show a0032c0021 a0074c0103 a0075c0063 a0086c0099	a0032c0021t0009 a0074c0103t0002 a0075c0063t0001 others(1): Show a0032c0021t0009 a0074c0103t0002 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0074c0103t0002g0080 others(2): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0074c0103t0002g0080 a0075c0063t0001g0111 a0086c0099t0001g0216	5	354	0.0141	c.827 others(4): Show c.8271C>G	p.Asn others(7): Show p.Asn2757Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8408/18335	8271/17388	2757/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947194	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.825 others(4): Show c.8257G>A	p.Val others(7): Show p.Val2753Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8394/18335	8257/17388	2753/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947214	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.823 others(4): Show c.8237T>A	p.Leu others(7): Show p.Leu2746His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8374/18335	8237/17388	2746/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947224	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.822 others(4): Show c.8227G>A	p.Glu others(7): Show p.Glu2743Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8364/18335	8227/17388	2743/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947229	A A	G G	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.822 others(4): Show c.8222T>C	p.Met others(7): Show p.Met2741Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8359/18335	8222/17388	2741/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947234	G G	T T	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.821 others(4): Show c.8217C>A	p.Phe others(7): Show p.Phe2739Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8354/18335	8217/17388	2739/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947248	G G	C C	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.820 others(4): Show c.8203C>G	p.Gln others(7): Show p.Gln2735Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8340/18335	8203/17388	2735/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947251	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG03130.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0086 a0032 a0086	a0032c0021 a0086c0099 a0032c0021 a0086c0099	a0032c0021t0009 a0086c0099t0001 a0032c0021t0009 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216 a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216	3	353	0.0085	c.820 others(4): Show c.8200C>G	p.Leu others(7): Show p.Leu2734Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8337/18335	8200/17388	2734/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947292	T T	G G	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.815 others(4): Show c.8159A>C	p.His others(7): Show p.His2720Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8296/18335	8159/17388	2720/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947301	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.815 others(4): Show c.8150C>T	p.Pro others(7): Show p.Pro2717Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8287/18335	8150/17388	2717/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947308	T T	C C	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.814 others(4): Show c.8143A>G	p.Lys others(7): Show p.Lys2715Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8280/18335	8143/17388	2715/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947311	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.814 others(4): Show c.8140G>C	p.Val others(7): Show p.Val2714Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8277/18335	8140/17388	2714/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947320	G G	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0042 a0062 a0042 a0062	a0042c0143 a0062c0125 a0042c0143 a0062c0125	a0042c0143t0002 a0062c0125t0002 a0042c0143t0002 a0062c0125t0002	a0042c0143t0002g0076 a0062c0125t0002g0078 a0042c0143t0002g0076 a0062c0125t0002g0078	2	354	0.0056	c.813 others(4): Show c.8131C>A	p.Gln others(7): Show p.Gln2711Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8268/18335	8131/17388	2711/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947322	C C	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.812 others(4): Show c.8129G>T	p.Gly others(7): Show p.Gly2710Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8266/18335	8129/17388	2710/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947339	T T	G G	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.811 others(4): Show c.8112A>C	p.Gln others(7): Show p.Gln2704His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8249/18335	8112/17388	2704/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947341	G G	C C	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.811 others(4): Show c.8110C>G	p.Gln others(7): Show p.Gln2704Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8247/18335	8110/17388	2704/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947356	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.809 others(4): Show c.8095C>G	p.Gln others(7): Show p.Gln2699Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8232/18335	8095/17388	2699/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947365	T T	G G	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.808 others(4): Show c.8086A>C	p.Ile others(7): Show p.Ile2696Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8223/18335	8086/17388	2696/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947374	T T	C C	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.807 others(4): Show c.8077A>G	p.Thr others(7): Show p.Thr2693Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8214/18335	8077/17388	2693/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947398	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.805 others(4): Show c.8053C>T	p.Pro others(7): Show p.Pro2685Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8190/18335	8053/17388	2685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947401	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.805 others(4): Show c.8050C>T	p.Leu others(7): Show p.Leu2684Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8187/18335	8050/17388	2684/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947406	A A	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.804 others(4): Show c.8045T>G	p.Met others(7): Show p.Met2682Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8182/18335	8045/17388	2682/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947407	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.804 others(4): Show c.8044A>G	p.Met others(7): Show p.Met2682Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8181/18335	8044/17388	2682/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947424	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0032 a0075 a0032 a0075	a0032c0021 a0075c0063 a0032c0021 a0075c0063	a0032c0021t0009 a0075c0063t0001 a0032c0021t0009 a0075c0063t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111	3	354	0.0085	c.802 others(4): Show c.8027T>C	p.Leu others(7): Show p.Leu2676Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8164/18335	8027/17388	2676/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947427	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0032 a0075 a0032 a0075	a0032c0021 a0075c0063 a0032c0021 a0075c0063	a0032c0021t0009 a0075c0063t0001 a0032c0021t0009 a0075c0063t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111	3	354	0.0085	c.802 others(4): Show c.8024A>C	p.Glu others(7): Show p.Glu2675Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8161/18335	8024/17388	2675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947440	C C	G G	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.801 others(4): Show c.8011G>C	p.Val others(7): Show p.Val2671Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8148/18335	8011/17388	2671/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947442	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG03130.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0086 a0032 a0086	a0032c0021 a0086c0099 a0032c0021 a0086c0099	a0032c0021t0009 a0086c0099t0001 a0032c0021t0009 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216 a0032c0021t0009g0058 a0032c0021t0009g0059 a0086c0099t0001g0216	3	354	0.0085	c.800 others(4): Show c.8009T>C	p.Leu others(7): Show p.Leu2670Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8146/18335	8009/17388	2670/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947445	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.800 others(4): Show c.8006C>T	p.Ala others(7): Show p.Ala2669Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8143/18335	8006/17388	2669/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947454	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG02698.hp2 others(8): Show HG00438.hp2 HG00558.hp1 HG02698.hp2 HG03710.hp2 NA18956.hp2 NA18970.hp1 NA18981.hp1 NA19005.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(5): Show a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056	11	354	0.0311	c.799 others(4): Show c.7997C>T	p.Ser others(7): Show p.Ser2666Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8134/18335	7997/17388	2666/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947457	T T	C C	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.799 others(4): Show c.7994A>G	p.Glu others(7): Show p.Glu2665Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8131/18335	7994/17388	2665/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947458	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.799 others(4): Show c.7993G>A	p.Glu others(7): Show p.Glu2665Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8130/18335	7993/17388	2665/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947476	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.797 others(4): Show c.7975A>G	p.Arg others(7): Show p.Arg2659Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8112/18335	7975/17388	2659/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947530	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.792 others(4): Show c.7921G>A	p.Val others(7): Show p.Val2641Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8058/18335	7921/17388	2641/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947532	C C	G G	missense_variant missense_variant	MODERATE	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0002 a0034c0031t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0034c0031t0002g0169 a0034c0031t0002g0188	2	351	0.0057	c.791 others(4): Show c.7919G>C	p.Gly others(7): Show p.Gly2640Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8056/18335	7919/17388	2640/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947532	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0032 a0075 a0032 a0075	a0032c0021 a0075c0063 a0032c0021 a0075c0063	a0032c0021t0009 a0075c0063t0001 a0032c0021t0009 a0075c0063t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111	3	352	0.0085	c.791 others(4): Show c.7919G>A	p.Gly others(7): Show p.Gly2640Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8056/18335	7919/17388	2640/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947537	G G	T T	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.791 others(4): Show c.7914C>A	p.Asp others(7): Show p.Asp2638Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8051/18335	7914/17388	2638/5795	chr14	TogoVar

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