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	104947979	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03225.hp1 HG03540.hp1 others(1): Show HG03098.hp2 HG03225.hp1 HG03540.hp1 NA18906.hp2	a0014 a0089 a0099 a0014 a0089 a0099	a0014c0041 a0089c0146 a0099c0145 a0014c0041 a0089c0146 a0099c0145	a0014c0041t0003 a0089c0146t0003 a0099c0145t0003 a0014c0041t0003 a0089c0146t0003 a0099c0145t0003	a0014c0041t0003g0030 a0089c0146t0003g0140 a0099c0145t0003g0139 a0014c0041t0003g0030 a0089c0146t0003g0140 a0099c0145t0003g0139	4	354	0.0113	c.747 others(4): Show c.7472C>T	p.Pro others(7): Show p.Pro2491Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7609/18335	7472/17388	2491/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947996	A A	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00738.hp1 HG01261.hp2 others(10): Show HG00642.hp2 HG00738.hp1 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp2 HG02273.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0005 a0025 a0032 others(4): Show a0005 a0025 a0032 a0059 a0064 a0075 a0086	a0005c0011 a0005c0083 a0025c0030 others(5): Show a0005c0011 a0005c0083 a0025c0030 a0032c0021 a0059c0078 a0064c0079 a0075c0063 a0086c0099	a0005c0011t0002 a0005c0083t0002 a0025c0030t0002 others(5): Show a0005c0011t0002 a0005c0083t0002 a0025c0030t0002 a0032c0021t0009 a0059c0078t0002 a0064c0079t0002 a0075c0063t0001 a0086c0099t0001	a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0083t0002g0232 others(7): Show a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0083t0002g0232 a0025c0030t0002g0026 a0032c0021t0009g0058 a0032c0021t0009g0059 a0059c0078t0002g0099 a0064c0079t0002g0085 a0075c0063t0001g0111 a0086c0099t0001g0216	13	354	0.0367	c.745 others(4): Show c.7455T>G	p.Ile others(7): Show p.Ile2485Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7592/18335	7455/17388	2485/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948006	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02896.hp1 others(4): Show HG01167.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1	a0032 a0034 a0046 others(2): Show a0032 a0034 a0046 a0075 a0086	a0032c0021 a0034c0031 a0046c0102 others(2): Show a0032c0021 a0034c0031 a0046c0102 a0075c0063 a0086c0099	a0032c0021t0009 a0034c0031t0002 a0046c0102t0002 others(2): Show a0032c0021t0009 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 others(4): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0086c0099t0001g0216	7	354	0.0198	c.744 others(4): Show c.7445G>A	p.Arg others(7): Show p.Arg2482Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7582/18335	7445/17388	2482/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948019	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.743 others(4): Show c.7432A>G	p.Thr others(7): Show p.Thr2478Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7569/18335	7432/17388	2478/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948027	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.742 others(4): Show c.7424A>G	p.Asp others(7): Show p.Asp2475Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7561/18335	7424/17388	2475/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948040	C C	G G	missense_variant missense_variant	MODERATE	HG00733.hp2 HG01123.hp2 HG01934.hp2 others(4): Show HG00733.hp2 HG01123.hp2 HG01934.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0001 a0032 a0075 others(1): Show a0001 a0032 a0075 a0086	a0001c0001 a0032c0021 a0075c0063 others(1): Show a0001c0001 a0032c0021 a0075c0063 a0086c0099	a0001c0001t0001 a0001c0001t0011 a0032c0021t0009 others(2): Show a0001c0001t0001 a0001c0001t0011 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0001c0001t0001g0063 a0001c0001t0001g0144 a0001c0001t0011g0142 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0144 a0001c0001t0011g0142 a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	7	354	0.0198	c.741 others(4): Show c.7411G>C	p.Val others(7): Show p.Val2471Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7548/18335	7411/17388	2471/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948061	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.739 others(4): Show c.7390T>C	p.Trp others(7): Show p.Trp2464Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7527/18335	7390/17388	2464/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948082	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.736 others(4): Show c.7369G>A	p.Gly others(7): Show p.Gly2457Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7506/18335	7369/17388	2457/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948091	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.736 others(4): Show c.7360G>C	p.Glu others(7): Show p.Glu2454Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7497/18335	7360/17388	2454/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948106	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.734 others(4): Show c.7345G>A	p.Val others(7): Show p.Val2449Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7482/18335	7345/17388	2449/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948109	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.734 others(4): Show c.7342A>G	p.Ser others(7): Show p.Ser2448Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7479/18335	7342/17388	2448/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948112	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.733 others(4): Show c.7339C>T	p.Pro others(7): Show p.Pro2447Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7476/18335	7339/17388	2447/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948114	T T	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.733 others(4): Show c.7337A>T	p.Gln others(7): Show p.Gln2446Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7474/18335	7337/17388	2446/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948121	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.733 others(4): Show c.7330G>A	p.Val others(7): Show p.Val2444Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7467/18335	7330/17388	2444/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948137	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.731 others(4): Show c.7314G>A	p.Met others(7): Show p.Met2438Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7451/18335	7314/17388	2438/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948138	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.731 others(4): Show c.7313T>C	p.Met others(7): Show p.Met2438Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7450/18335	7313/17388	2438/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948143	G G	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	352	0.0028	c.730 others(4): Show c.7308C>A	p.Asp others(7): Show p.Asp2436Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7445/18335	7308/17388	2436/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948147	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.730 others(4): Show c.7304C>T	p.Thr others(7): Show p.Thr2435Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7441/18335	7304/17388	2435/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948148	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.730 others(4): Show c.7303A>G	p.Thr others(7): Show p.Thr2435Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7440/18335	7303/17388	2435/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948184	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.726 others(4): Show c.7267G>A	p.Val others(7): Show p.Val2423Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7404/18335	7267/17388	2423/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948190	T T	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.726 others(4): Show c.7261A>C	p.Ile others(7): Show p.Ile2421Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7398/18335	7261/17388	2421/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948204	A A	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.724 others(4): Show c.7247T>G	p.Leu others(7): Show p.Leu2416Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7384/18335	7247/17388	2416/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948211	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.724 others(4): Show c.7240G>A	p.Val others(7): Show p.Val2414Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7377/18335	7240/17388	2414/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948214	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.723 others(4): Show c.7237A>G	p.Lys others(7): Show p.Lys2413Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7374/18335	7237/17388	2413/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948222	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02451.hp2 HG02559.hp2 others(12): Show HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0008 a0014 a0067 others(4): Show a0008 a0014 a0067 a0084 a0089 a0099 a0116	a0008c0010 a0014c0041 a0014c0081 others(6): Show a0008c0010 a0014c0041 a0014c0081 a0014c0144 a0067c0130 a0084c0054 a0089c0146 a0099c0145 a0116c0055	a0008c0010t0003 a0014c0041t0003 a0014c0081t0003 others(6): Show a0008c0010t0003 a0014c0041t0003 a0014c0081t0003 a0014c0144t0003 a0067c0130t0003 a0084c0054t0003 a0089c0146t0003 a0099c0145t0003 a0116c0055t0003	a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(9): Show a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0014c0041t0003g0030 a0014c0081t0003g0116 a0014c0144t0003g0128 a0067c0130t0003g0141 a0084c0054t0003g0149 a0089c0146t0003g0140 a0099c0145t0003g0139 a0116c0055t0003g0148	15	354	0.0424	c.722 others(4): Show c.7229A>G	p.Lys others(7): Show p.Lys2410Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7366/18335	7229/17388	2410/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948241	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.721 others(4): Show c.7210C>G	p.Leu others(7): Show p.Leu2404Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7347/18335	7210/17388	2404/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948270	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0090 a0090	a0090c0098 a0090c0098	a0090c0098t0002 a0090c0098t0002	a0090c0098t0002g0203 a0090c0098t0002g0203	1	354	0.0028	c.718 others(4): Show c.7181G>A	p.Gly others(7): Show p.Gly2394Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7318/18335	7181/17388	2394/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948282	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.716 others(4): Show c.7169C>A	p.Pro others(7): Show p.Pro2390His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7306/18335	7169/17388	2390/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948292	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 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 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(66): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0014 a0016 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0027 a0028 a0031 a0034 a0035 a0040 a0041 a0042 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0054 a0059 a0060 a0062 a0063 a0064 a0066 a0067 a0068 a0069 a0071 a0074 a0077 a0081 a0084 a0085 a0088 a0089 a0090 a0091 a0094 a0096 a0097 a0099 a0100 a0101 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0115 a0116	a0002c0003 a0002c0005 a0002c0036 others(85): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0003c0004 a0003c0119 a0004c0006 a0005c0011 a0005c0017 a0005c0083 a0006c0007 a0008c0010 a0009c0009 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0081 a0014c0144 a0016c0019 a0016c0113 a0017c0013 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0020c0032 a0020c0110 a0022c0020 a0025c0030 a0026c0128 a0026c0129 a0027c0034 a0028c0118 a0028c0120 a0031c0137 a0031c0138 a0034c0031 a0035c0035 a0040c0123 a0041c0053 a0042c0143 a0044c0131 a0045c0140 a0046c0102 a0047c0094 a0048c0112 a0049c0135 a0050c0106 a0054c0097 a0059c0078 a0060c0142 a0062c0125 a0063c0111 a0064c0079 a0066c0107 a0067c0130 a0068c0127 a0069c0136 a0071c0148 a0074c0103 a0077c0105 a0081c0124 a0084c0054 a0085c0084 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0094c0139 a0096c0121 a0097c0122 a0099c0145 a0100c0093 a0101c0141 a0104c0149 a0105c0115 a0107c0082 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0112c0132 a0115c0080 a0116c0055	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(88): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0011t0002 a0005c0017t0002 a0005c0083t0002 a0006c0007t0002 a0008c0010t0003 a0009c0009t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0081t0003 a0014c0144t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0025c0030t0002 a0026c0128t0002 a0026c0129t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0031c0137t0007 a0031c0138t0002 a0034c0031t0002 a0035c0035t0002 a0035c0035t0007 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0049c0135t0002 a0050c0106t0002 a0054c0097t0002 a0059c0078t0002 a0060c0142t0002 a0062c0125t0002 a0063c0111t0002 a0064c0079t0002 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0069c0136t0002 a0071c0148t0002 a0074c0103t0002 a0077c0105t0002 a0081c0124t0002 a0084c0054t0003 a0085c0084t0002 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0096c0121t0002 a0097c0122t0002 a0099c0145t0003 a0100c0093t0010 a0101c0141t0002 a0104c0149t0002 a0105c0115t0002 a0107c0082t0002 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0112c0132t0015 a0115c0080t0002 a0116c0055t0003	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(133): 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 a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0017t0002g0012 a0005c0083t0002g0232 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0009c0009t0002g0005 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0081t0003g0116 a0014c0144t0003g0128 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0025c0030t0002g0026 a0026c0128t0002g0204 a0026c0129t0002g0205 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0031c0137t0007g0221 a0031c0138t0002g0222 a0034c0031t0002g0169 a0034c0031t0002g0188 a0035c0035t0002g0075 a0035c0035t0007g0220 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0049c0135t0002g0073 a0050c0106t0002g0250 a0054c0097t0002g0247 a0059c0078t0002g0099 a0060c0142t0002g0225 a0062c0125t0002g0078 a0063c0111t0002g0137 a0064c0079t0002g0085 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0069c0136t0002g0257 a0071c0148t0002g0083 a0074c0103t0002g0080 a0077c0105t0002g0133 a0081c0124t0002g0246 a0084c0054t0003g0149 a0085c0084t0002g0100 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0096c0121t0002g0171 a0097c0122t0002g0180 a0099c0145t0003g0139 a0100c0093t0010g0055 a0101c0141t0002g0219 a0104c0149t0002g0185 a0105c0115t0002g0177 a0107c0082t0002g0244 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0112c0132t0015g0258 a0115c0080t0002g0237 a0116c0055t0003g0148	180	354	0.5085	c.715 others(4): Show c.7159C>T	p.Pro others(7): Show p.Pro2387Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7296/18335	7159/17388	2387/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948301	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.715 others(4): Show c.7150G>C	p.Val others(7): Show p.Val2384Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7287/18335	7150/17388	2384/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948329	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.712 others(4): Show c.7122C>A	p.Asp others(7): Show p.Asp2374Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7259/18335	7122/17388	2374/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948331	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.712 others(4): Show c.7120G>C	p.Asp others(7): Show p.Asp2374His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7257/18335	7120/17388	2374/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948346	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.710 others(4): Show c.7105C>G	p.Gln others(7): Show p.Gln2369Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7242/18335	7105/17388	2369/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948349	C C	T T	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	347	0.0058	c.710 others(4): Show c.7102G>A	p.Val others(7): Show p.Val2368Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7239/18335	7102/17388	2368/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948355	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.709 others(4): Show c.7096C>A	p.Leu others(7): Show p.Leu2366Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7233/18335	7096/17388	2366/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948364	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.708 others(4): Show c.7087A>G	p.Thr others(7): Show p.Thr2363Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7224/18335	7087/17388	2363/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948388	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG03130.hp1 HG00099.hp2 HG03130.hp1	a0002 a0086 a0002 a0086	a0002c0005 a0086c0099 a0002c0005 a0086c0099	a0002c0005t0002 a0086c0099t0001 a0002c0005t0002 a0086c0099t0001	a0002c0005t0002g0004 a0086c0099t0001g0216 a0002c0005t0002g0004 a0086c0099t0001g0216	2	354	0.0056	c.706 others(4): Show c.7063C>T	p.Pro others(7): Show p.Pro2355Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7200/18335	7063/17388	2355/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948396	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.705 others(4): Show c.7055T>G	p.Val others(7): Show p.Val2352Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7192/18335	7055/17388	2352/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948397	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.705 others(4): Show c.7054G>A	p.Val others(7): Show p.Val2352Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7191/18335	7054/17388	2352/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948398	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.705 others(4): Show c.7053C>A	p.Asp others(7): Show p.Asp2351Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7190/18335	7053/17388	2351/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948400	C C	T T	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	354	0.0028	c.705 others(4): Show c.7051G>A	p.Asp others(7): Show p.Asp2351Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7188/18335	7051/17388	2351/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948413	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.703 others(4): Show c.7038G>C	p.Leu others(7): Show p.Leu2346Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7175/18335	7038/17388	2346/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948414	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.703 others(4): Show c.7037T>C	p.Leu others(7): Show p.Leu2346Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7174/18335	7037/17388	2346/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948418	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	c.703 others(4): Show c.7033G>C	p.Ala others(7): Show p.Ala2345Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7170/18335	7033/17388	2345/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948429	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02451.hp2 HG02630.hp2 others(1): Show HG02257.hp1 HG02451.hp2 HG02630.hp2 HG03130.hp1	a0063 a0067 a0075 others(1): Show a0063 a0067 a0075 a0086	a0063c0111 a0067c0130 a0075c0063 others(1): Show a0063c0111 a0067c0130 a0075c0063 a0086c0099	a0063c0111t0002 a0067c0130t0003 a0075c0063t0001 others(1): Show a0063c0111t0002 a0067c0130t0003 a0075c0063t0001 a0086c0099t0001	a0063c0111t0002g0137 a0067c0130t0003g0141 a0075c0063t0001g0111 others(1): Show a0063c0111t0002g0137 a0067c0130t0003g0141 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.702 others(4): Show c.7022C>T	p.Ala others(7): Show p.Ala2341Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7159/18335	7022/17388	2341/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948435	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.701 others(4): Show c.7016C>T	p.Ala others(7): Show p.Ala2339Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7153/18335	7016/17388	2339/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948438	T T	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.701 others(4): Show c.7013A>C	p.Glu others(7): Show p.Glu2338Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7150/18335	7013/17388	2338/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948453	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp1 HG00438.hp2 others(184): Show HG00099.hp1 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 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 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 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 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(69): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0014 a0016 a0017 a0018 a0019 a0022 a0025 a0026 a0027 a0028 a0031 a0033 a0034 a0035 a0040 a0041 a0042 a0044 a0045 a0046 a0047 a0048 a0049 a0054 a0059 a0060 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0071 a0074 a0075 a0079 a0081 a0084 a0085 a0086 a0088 a0089 a0090 a0091 a0094 a0096 a0097 a0098 a0099 a0100 a0101 a0104 a0105 a0108 a0109 a0111 a0112 a0113 a0115 a0116	a0001c0001 a0002c0003 a0002c0005 others(87): Show a0001c0001 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0003c0004 a0003c0119 a0004c0006 a0005c0011 a0005c0017 a0005c0083 a0006c0007 a0008c0010 a0009c0009 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0081 a0014c0144 a0016c0019 a0016c0113 a0017c0013 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0022c0020 a0025c0030 a0026c0128 a0026c0129 a0027c0034 a0028c0118 a0028c0120 a0031c0137 a0031c0138 a0033c0025 a0034c0031 a0035c0035 a0040c0123 a0041c0053 a0042c0143 a0044c0131 a0045c0140 a0046c0102 a0047c0094 a0048c0112 a0049c0135 a0054c0097 a0059c0078 a0060c0142 a0062c0125 a0063c0111 a0064c0079 a0065c0088 a0066c0107 a0067c0130 a0068c0127 a0069c0136 a0071c0148 a0074c0103 a0075c0063 a0079c0043 a0081c0124 a0084c0054 a0085c0084 a0086c0099 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0094c0139 a0096c0121 a0097c0122 a0098c0100 a0099c0145 a0100c0093 a0101c0141 a0104c0149 a0105c0115 a0108c0116 a0109c0117 a0111c0052 a0112c0132 a0113c0065 a0115c0080 a0116c0055	a0001c0001t0001 a0001c0001t0008 a0002c0003t0002 others(91): Show a0001c0001t0001 a0001c0001t0008 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0011t0002 a0005c0017t0002 a0005c0083t0002 a0006c0007t0002 a0008c0010t0003 a0009c0009t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0081t0003 a0014c0144t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0022c0020t0002 a0025c0030t0002 a0026c0128t0002 a0026c0129t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0031c0137t0007 a0031c0138t0002 a0033c0025t0001 a0034c0031t0002 a0035c0035t0002 a0035c0035t0007 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0049c0135t0002 a0054c0097t0002 a0059c0078t0002 a0060c0142t0002 a0062c0125t0002 a0063c0111t0002 a0064c0079t0002 a0065c0088t0001 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0069c0136t0002 a0071c0148t0002 a0074c0103t0002 a0075c0063t0001 a0079c0043t0001 a0081c0124t0002 a0084c0054t0003 a0085c0084t0002 a0086c0099t0001 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0096c0121t0002 a0097c0122t0002 a0098c0100t0001 a0099c0145t0003 a0100c0093t0010 a0101c0141t0002 a0104c0149t0002 a0105c0115t0002 a0108c0116t0001 a0109c0117t0005 a0111c0052t0002 a0112c0132t0015 a0113c0065t0001 a0115c0080t0002 a0116c0055t0003	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0239 a0001c0001t0008g0047 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 a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0017t0002g0012 a0005c0083t0002g0232 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0009c0009t0002g0005 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0081t0003g0116 a0014c0144t0003g0128 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0022c0020t0002g0015 a0025c0030t0002g0026 a0026c0128t0002g0204 a0026c0129t0002g0205 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0031c0137t0007g0221 a0031c0138t0002g0222 a0033c0025t0001g0023 a0034c0031t0002g0169 a0034c0031t0002g0188 a0035c0035t0002g0075 a0035c0035t0007g0220 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0049c0135t0002g0073 a0054c0097t0002g0247 a0059c0078t0002g0099 a0060c0142t0002g0225 a0062c0125t0002g0078 a0063c0111t0002g0137 a0064c0079t0002g0085 a0065c0088t0001g0096 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0069c0136t0002g0257 a0071c0148t0002g0083 a0074c0103t0002g0080 a0075c0063t0001g0111 a0079c0043t0001g0074 a0081c0124t0002g0246 a0084c0054t0003g0149 a0085c0084t0002g0100 a0086c0099t0001g0216 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0096c0121t0002g0171 a0097c0122t0002g0180 a0098c0100t0001g0217 a0099c0145t0003g0139 a0100c0093t0010g0055 a0101c0141t0002g0219 a0104c0149t0002g0185 a0105c0115t0002g0177 a0108c0116t0001g0152 a0109c0117t0005g0167 a0111c0052t0002g0146 a0112c0132t0015g0258 a0113c0065t0001g0236 a0115c0080t0002g0237 a0116c0055t0003g0148	187	354	0.5282	c.699 others(4): Show c.6998T>C	p.Leu others(7): Show p.Leu2333Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7135/18335	6998/17388	2333/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948474	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02630.hp2 HG03130.hp1 others(1): Show HG02257.hp1 HG02630.hp2 HG03130.hp1 HG03669.hp1	a0001 a0063 a0075 others(1): Show a0001 a0063 a0075 a0086	a0001c0001 a0063c0111 a0075c0063 others(1): Show a0001c0001 a0063c0111 a0075c0063 a0086c0099	a0001c0001t0001 a0063c0111t0002 a0075c0063t0001 others(1): Show a0001c0001t0001 a0063c0111t0002 a0075c0063t0001 a0086c0099t0001	a0001c0001t0001g0198 a0063c0111t0002g0137 a0075c0063t0001g0111 others(1): Show a0001c0001t0001g0198 a0063c0111t0002g0137 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.697 others(4): Show c.6977T>C	p.Leu others(7): Show p.Leu2326Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7114/18335	6977/17388	2326/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948491	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.696 others(4): Show c.6960G>T	p.Met others(7): Show p.Met2320Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7097/18335	6960/17388	2320/5795	chr14	TogoVar

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