Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
AHNAK_chr11_62510902_62551806	62527708	G G	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG03098.hp2 HG02647.hp1 HG03098.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0028 a0014c0023t0001g0028	2	186	0.0108	c.670 others(4): Show c.6709C>A	p.Pro others(7): Show p.Pro2237Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6955/18761	6709/17673	2237/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527889	C C	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(11): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0056 a0002c0057 a0002c0003 a0002c0056 a0002c0057	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0002c0003t0001 a0002c0056t0001 a0002c0057t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098	14	186	0.0753	c.652 others(4): Show c.6528G>T	p.Glu others(7): Show p.Glu2176Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6774/18761	6528/17673	2176/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528360	T T	G G	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0004 a0021c0052t0004	a0021c0052t0004g0099 a0021c0052t0004g0099	1	186	0.0054	c.605 others(4): Show c.6057A>C	p.Lys others(7): Show p.Lys2019Asn	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6303/18761	6057/17673	2019/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528535	G G	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0024 a0024	a0024c0055 a0024c0055	a0024c0055t0001 a0024c0055t0001	a0024c0055t0001g0034 a0024c0055t0001g0034	1	186	0.0054	c.588 others(4): Show c.5882C>G	p.Pro others(7): Show p.Pro1961Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6128/18761	5882/17673	1961/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528551	C C	A A	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01952.hp2 HG01106.hp1 HG01952.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0079 a0015c0020t0001g0087 a0015c0020t0001g0079 a0015c0020t0001g0087	2	186	0.0108	c.586 others(4): Show c.5866G>T	p.Val others(7): Show p.Val1956Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6112/18761	5866/17673	1956/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528718	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0054 a0022c0054	a0022c0054t0001 a0022c0054t0001	a0022c0054t0001g0032 a0022c0054t0001g0032	1	186	0.0054	c.569 others(4): Show c.5699G>C	p.Cys others(7): Show p.Cys1900Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5945/18761	5699/17673	1900/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528976	T T	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00423.hp2	a0026 a0026	a0026c0046 a0026c0046	a0026c0046t0001 a0026c0046t0001	a0026c0046t0001g0076 a0026c0046t0001g0076	1	186	0.0054	c.544 others(4): Show c.5441A>T	p.Gln others(7): Show p.Gln1814Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5687/18761	5441/17673	1814/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529063	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(15): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0020 others(1): Show a0002 a0014 a0020 a0021	a0002c0003 a0002c0056 a0002c0057 others(3): Show a0002c0003 a0002c0056 a0002c0057 a0014c0023 a0020c0053 a0021c0052	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(3): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0014c0023t0001 a0020c0053t0001 a0021c0052t0004	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(7): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0014c0023t0001g0028 a0020c0053t0001g0081 a0021c0052t0004g0099	18	186	0.0968	c.535 others(4): Show c.5354A>G	p.Asp others(7): Show p.Asp1785Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5600/18761	5354/17673	1785/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529084	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0054 a0022c0054	a0022c0054t0001 a0022c0054t0001	a0022c0054t0001g0032 a0022c0054t0001g0032	1	186	0.0054	c.533 others(4): Show c.5333C>T	p.Ala others(7): Show p.Ala1778Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5579/18761	5333/17673	1778/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529120	C C	A A	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0002 a0017c0022t0002	a0017c0022t0002g0018 a0017c0022t0002g0018	2	186	0.0108	c.529 others(4): Show c.5297G>T	p.Gly others(7): Show p.Gly1766Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5543/18761	5297/17673	1766/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529129	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(16): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0020 others(2): Show a0002 a0014 a0020 a0021 a0022	a0002c0003 a0002c0056 a0002c0057 others(4): Show a0002c0003 a0002c0056 a0002c0057 a0014c0023 a0020c0053 a0021c0052 a0022c0054	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(4): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0014c0023t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(8): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0014c0023t0001g0028 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032	19	186	0.1022	c.528 others(4): Show c.5288A>G	p.Lys others(7): Show p.Lys1763Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5534/18761	5288/17673	1763/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529420	T T	C C	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18959.hp1 NA18983.hp2 others(3): Show NA18944.hp2 NA18959.hp1 NA18983.hp2 NA19065.hp1 NA19068.hp1 NA19085.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0015 a0006c0008t0001g0020 a0006c0008t0001g0057 a0006c0008t0001g0015 a0006c0008t0001g0020 a0006c0008t0001g0057	6	186	0.0323	c.499 others(4): Show c.4997A>G	p.Lys others(7): Show p.Lys1666Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5243/18761	4997/17673	1666/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529526	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp2 HG06807.hp1 HG02647.hp2 HG06807.hp1	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0021 a0018c0016t0001g0021	2	186	0.0108	c.489 others(4): Show c.4891G>A	p.Gly others(7): Show p.Gly1631Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	5137/18761	4891/17673	1631/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529690	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(11): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0056 a0002c0057 a0002c0003 a0002c0056 a0002c0057	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0002c0003t0001 a0002c0056t0001 a0002c0057t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098	14	186	0.0753	c.472 others(4): Show c.4727C>T	p.Thr others(7): Show p.Thr1576Met	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4973/18761	4727/17673	1576/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529786	G G	C C	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18959.hp2 NA18952.hp1 NA18959.hp2	a0019 a0019	a0019c0047 a0019c0048 a0019c0047 a0019c0048	a0019c0047t0001 a0019c0048t0001 a0019c0047t0001 a0019c0048t0001	a0019c0047t0001g0042 a0019c0048t0001g0043 a0019c0047t0001g0042 a0019c0048t0001g0043	2	186	0.0108	c.463 others(4): Show c.4631C>G	p.Pro others(7): Show p.Pro1544Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4877/18761	4631/17673	1544/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529927	G G	C C	missense_variant missense_variant	MODERATE	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0020 a0021 a0020 a0021	a0020c0053 a0021c0052 a0020c0053 a0021c0052	a0020c0053t0001 a0021c0052t0004 a0020c0053t0001 a0021c0052t0004	a0020c0053t0001g0081 a0021c0052t0004g0099 a0020c0053t0001g0081 a0021c0052t0004g0099	2	186	0.0108	c.449 others(4): Show c.4490C>G	p.Pro others(7): Show p.Pro1497Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4736/18761	4490/17673	1497/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529975	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(13): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 NA19007.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0002c0056 a0002c0057 others(1): Show a0002c0003 a0002c0056 a0002c0057 a0014c0023	a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 others(1): Show a0002c0003t0001 a0002c0056t0001 a0002c0057t0001 a0014c0023t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 others(5): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0051 a0002c0003t0001g0097 a0002c0056t0001g0054 a0002c0057t0001g0098 a0014c0023t0001g0028	16	186	0.0860	c.444 others(4): Show c.4442A>G	p.Lys others(7): Show p.Lys1481Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4688/18761	4442/17673	1481/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62530060	T T	C C	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18959.hp2 NA18952.hp1 NA18959.hp2	a0019 a0019	a0019c0047 a0019c0048 a0019c0047 a0019c0048	a0019c0047t0001 a0019c0048t0001 a0019c0047t0001 a0019c0048t0001	a0019c0047t0001g0042 a0019c0048t0001g0043 a0019c0047t0001g0042 a0019c0048t0001g0043	2	186	0.0108	c.435 others(4): Show c.4357A>G	p.Ile others(7): Show p.Ile1453Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4603/18761	4357/17673	1453/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62530241	C C	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02630.hp2 HG02717.hp2 others(6): Show HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03225.hp2 NA18522.hp1	a0009 a0010 a0024 a0009 a0010 a0024	a0009c0011 a0010c0012 a0024c0055 a0009c0011 a0010c0012 a0024c0055	a0009c0011t0001 a0010c0012t0001 a0024c0055t0001 a0009c0011t0001 a0010c0012t0001 a0024c0055t0001	a0009c0011t0001g0006 a0010c0012t0001g0007 a0024c0055t0001g0034 a0009c0011t0001g0006 a0010c0012t0001g0007 a0024c0055t0001g0034	9	186	0.0484	c.417 others(4): Show c.4176G>T	p.Met others(7): Show p.Met1392Ile	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4422/18761	4176/17673	1392/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62530458	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0045 a0045	a0045c0049 a0045c0049	a0045c0049t0001 a0045c0049t0001	a0045c0049t0001g0044 a0045c0049t0001g0044	1	186	0.0054	c.395 others(4): Show c.3959C>T	p.Ala others(7): Show p.Ala1320Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4205/18761	3959/17673	1320/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62530602	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show HG01109.hp1 HG02976.hp2 HG03041.hp1 NA19043.hp2	a0020 a0021 a0022 others(1): Show a0020 a0021 a0022 a0023	a0020c0053 a0021c0052 a0022c0054 others(1): Show a0020c0053 a0021c0052 a0022c0054 a0023c0058	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 others(1): Show a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0023c0058t0005	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 others(1): Show a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0023c0058t0005g0031	4	186	0.0215	c.381 others(4): Show c.3815G>C	p.Arg others(7): Show p.Arg1272Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4061/18761	3815/17673	1272/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62530792	C C	G G	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0025 a0025	a0025c0027 a0025c0027	a0025c0027t0001 a0025c0027t0001	a0025c0027t0001g0067 a0025c0027t0001g0067	1	186	0.0054	c.362 others(4): Show c.3625G>C	p.Val others(7): Show p.Val1209Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	3871/18761	3625/17673	1209/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62530794	T T	C C	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0046 a0046	a0046c0050 a0046c0050	a0046c0050t0001 a0046c0050t0001	a0046c0050t0001g0058 a0046c0050t0001g0058	1	186	0.0054	c.362 others(4): Show c.3623A>G	p.Lys others(7): Show p.Lys1208Arg	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	3869/18761	3623/17673	1208/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62531125	C C	A A	missense_variant missense_variant	MODERATE	HG03710.hp1 NA18942.hp1 NA18944.hp1 others(2): Show HG03710.hp1 NA18942.hp1 NA18944.hp1 NA19063.hp2 NA19085.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0008 a0007c0010t0001g0077 a0007c0010t0001g0008 a0007c0010t0001g0077	5	186	0.0269	c.329 others(4): Show c.3292G>T	p.Val others(7): Show p.Val1098Phe	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	3538/18761	3292/17673	1098/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62531229	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0020 a0021 a0022 a0020 a0021 a0022	a0020c0053 a0021c0052 a0022c0054 a0020c0053 a0021c0052 a0022c0054	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032	3	186	0.0161	c.318 others(4): Show c.3188G>A	p.Arg others(7): Show p.Arg1063Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	3434/18761	3188/17673	1063/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62531793	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02572.hp1 HG02622.hp2 others(16): Show HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0003 a0009 a0010 others(1): Show a0003 a0009 a0010 a0024	a0003c0004 a0009c0011 a0010c0012 others(1): Show a0003c0004 a0009c0011 a0010c0012 a0024c0055	a0003c0004t0001 a0003c0004t0003 a0009c0011t0001 others(2): Show a0003c0004t0001 a0003c0004t0003 a0009c0011t0001 a0010c0012t0001 a0024c0055t0001	a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0036 others(5): Show a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0036 a0003c0004t0003g0035 a0003c0004t0003g0052 a0009c0011t0001g0006 a0010c0012t0001g0007 a0024c0055t0001g0034	19	186	0.1022	c.262 others(4): Show c.2624T>C	p.Leu others(6): Show p.Leu875Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	2870/18761	2624/17673	875/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62532355	G G	T T	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0004 a0021c0052t0004	a0021c0052t0004g0099 a0021c0052t0004g0099	1	186	0.0054	c.206 others(4): Show c.2062C>A	p.Pro others(6): Show p.Pro688Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	2308/18761	2062/17673	688/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62532808	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG03225.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG03225.hp2 NA18522.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0007 a0010c0012t0001g0007	4	186	0.0215	c.160 others(4): Show c.1609A>C	p.Lys others(6): Show p.Lys537Gln	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1855/18761	1609/17673	537/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533030	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0054 a0022c0054	a0022c0054t0001 a0022c0054t0001	a0022c0054t0001g0032 a0022c0054t0001g0032	1	186	0.0054	c.138 others(4): Show c.1387C>T	p.Pro others(6): Show p.Pro463Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1633/18761	1387/17673	463/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533239	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0020 a0021 a0022 a0020 a0021 a0022	a0020c0053 a0021c0052 a0022c0054 a0020c0053 a0021c0052 a0022c0054	a0020c0053t0001 a0021c0052t0004 a0022c0054t0001 a0020c0053t0001 a0021c0052t0004 a0022c0054t0001	a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032 a0020c0053t0001g0081 a0021c0052t0004g0099 a0022c0054t0001g0032	3	186	0.0161	c.117 others(4): Show c.1178G>A	p.Gly others(6): Show p.Gly393Glu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1424/18761	1178/17673	393/5890	chr11	TogoVar
AHRR_chr5_316714_443285	376645	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0020 a0016c0012t0020	a0016c0012t0020g0239 a0016c0012t0020g0239	1	268	0.0037	c.280 others(3): Show c.280G>A	p.Gly others(5): Show p.Gly94Ser	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/11	396/5661	280/2094	94/697	chr5	TogoVar
AHRR_chr5_316714_443285	376690	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0021 a0008c0013t0001g0021	1	268	0.0037	c.325 others(3): Show c.325G>A	p.Val others(6): Show p.Val109Met	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/11	441/5661	325/2094	109/697	chr5	TogoVar
AHRR_chr5_316714_443285	376694	T T	C C	missense_variant missense_variant	MODERATE	HG01261.hp1 HG02109.hp1 HG02109.hp2 others(31): Show HG01261.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0004 a0006 a0007 others(1): Show a0004 a0006 a0007 a0016	a0004c0003 a0006c0006 a0007c0007 others(1): Show a0004c0003 a0006c0006 a0007c0007 a0016c0012	a0004c0003t0001 a0004c0003t0007 a0004c0003t0009 others(18): Show a0004c0003t0001 a0004c0003t0007 a0004c0003t0009 a0004c0003t0010 a0004c0003t0013 a0004c0003t0014 a0004c0003t0018 a0004c0003t0022 a0004c0003t0023 a0004c0003t0024 a0004c0003t0027 a0004c0003t0033 a0004c0003t0034 a0004c0003t0037 a0006c0006t0021 a0006c0006t0030 a0006c0006t0031 a0007c0007t0007 a0007c0007t0023 a0007c0007t0035 a0016c0012t0020	a0004c0003t0001g0083 a0004c0003t0007g0221 a0004c0003t0007g0230 others(31): Show a0004c0003t0001g0083 a0004c0003t0007g0221 a0004c0003t0007g0230 a0004c0003t0007g0235 a0004c0003t0007g0237 a0004c0003t0007g0246 a0004c0003t0007g0266 a0004c0003t0009g0224 a0004c0003t0009g0232 a0004c0003t0009g0233 a0004c0003t0009g0245 a0004c0003t0009g0248 a0004c0003t0010g0157 a0004c0003t0013g0149 a0004c0003t0014g0220 a0004c0003t0014g0236 a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0018g0098 a0004c0003t0022g0243 a0004c0003t0023g0228 a0004c0003t0024g0029 a0004c0003t0027g0092 a0004c0003t0033g0242 a0004c0003t0034g0229 a0004c0003t0037g0223 a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0030g0241 a0006c0006t0031g0226 a0007c0007t0007g0247 a0007c0007t0023g0225 a0007c0007t0035g0222 a0016c0012t0020g0239	34	268	0.1269	c.329 others(3): Show c.329T>C	p.Leu others(6): Show p.Leu110Pro	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/11	445/5661	329/2094	110/697	chr5	TogoVar
AHRR_chr5_316714_443285	422840	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(71): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19043.hp2 NA19058.hp1 NA19083.hp1 NA19085.hp1	a0002 a0007 a0008 others(3): Show a0002 a0007 a0008 a0009 a0010 a0011	a0002c0002 a0002c0011 a0002c0019 others(5): Show a0002c0002 a0002c0011 a0002c0019 a0007c0007 a0008c0013 a0009c0022 a0010c0020 a0011c0021	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 others(19): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0026 a0002c0002t0043 a0002c0002t0044 a0002c0002t0047 a0002c0002t0049 a0002c0002t0051 a0002c0002t0052 a0002c0011t0001 a0002c0019t0001 a0007c0007t0007 a0007c0007t0023 a0007c0007t0035 a0008c0013t0001 a0009c0022t0001 a0010c0020t0001 a0011c0021t0019	a0002c0002t0001g0010 a0002c0002t0001g0043 a0002c0002t0001g0048 others(71): Show a0002c0002t0001g0010 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0067 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0216 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0006g0008 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0076 a0002c0002t0006g0079 a0002c0002t0006g0095 a0002c0002t0006g0120 a0002c0002t0006g0144 a0002c0002t0006g0209 a0002c0002t0006g0218 a0002c0002t0007g0028 a0002c0002t0007g0249 a0002c0002t0010g0015 a0002c0002t0010g0096 a0002c0002t0010g0145 a0002c0002t0010g0207 a0002c0002t0011g0022 a0002c0002t0011g0040 a0002c0002t0011g0163 a0002c0002t0011g0197 a0002c0002t0011g0213 a0002c0002t0019g0007 a0002c0002t0019g0211 a0002c0002t0026g0119 a0002c0002t0026g0136 a0002c0002t0043g0166 a0002c0002t0044g0046 a0002c0002t0047g0077 a0002c0002t0049g0160 a0002c0002t0051g0097 a0002c0002t0052g0194 a0002c0011t0001g0085 a0002c0019t0001g0134 a0007c0007t0007g0247 a0007c0007t0023g0225 a0007c0007t0035g0222 a0008c0013t0001g0021 a0009c0022t0001g0023 a0010c0020t0001g0170 a0011c0021t0019g0111	74	268	0.2761	c.553 others(3): Show c.553C>G	p.Pro others(6): Show p.Pro185Ala	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	6/11	669/5661	553/2094	185/697	chr5	TogoVar
AHRR_chr5_316714_443285	423895	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0017 a0012c0018t0017	a0012c0018t0017g0265 a0012c0018t0017g0265	1	268	0.0037	c.626 others(3): Show c.626C>T	p.Thr others(6): Show p.Thr209Met	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	7/11	742/5661	626/2094	209/697	chr5	TogoVar
AHRR_chr5_316714_443285	427930	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0019 a0011c0021t0019	a0011c0021t0019g0111 a0011c0021t0019g0111	1	268	0.0037	c.832 others(3): Show c.832G>T	p.Ala others(6): Show p.Ala278Ser	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	8/11	948/5661	832/2094	278/697	chr5	TogoVar
AHRR_chr5_316714_443285	432863	G G	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0019 a0011c0021t0019	a0011c0021t0019g0111 a0011c0021t0019g0111	1	268	0.0037	c.102 others(4): Show c.1028G>A	p.Arg others(6): Show p.Arg343Gln	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	10/11	1144/5661	1028/2094	343/697	chr5	TogoVar
AHRR_chr5_316714_443285	432941	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01069.hp2 HG01099.hp1 others(14): Show HG00099.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01361.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG03225.hp2 NA18943.hp1 NA19083.hp2	a0005 a0006 a0015 a0005 a0006 a0015	a0005c0005 a0006c0006 a0015c0016 a0005c0005 a0006c0006 a0015c0016	a0005c0005t0008 a0005c0005t0015 a0005c0005t0038 others(5): Show a0005c0005t0008 a0005c0005t0015 a0005c0005t0038 a0005c0005t0039 a0006c0006t0021 a0006c0006t0030 a0006c0006t0031 a0015c0016t0015	a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 others(14): Show a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0008g0108 a0005c0005t0015g0118 a0005c0005t0015g0147 a0005c0005t0015g0182 a0005c0005t0038g0024 a0005c0005t0039g0250 a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0030g0241 a0006c0006t0031g0226 a0015c0016t0015g0189	17	268	0.0634	c.110 others(4): Show c.1106G>T	p.Gly others(6): Show p.Gly369Val	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	10/11	1222/5661	1106/2094	369/697	chr5	TogoVar
AHRR_chr5_316714_443285	434031	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0005 a0013c0015t0005	a0013c0015t0005g0115 a0013c0015t0005g0115	1	268	0.0037	c.129 others(4): Show c.1291C>T	p.Arg others(6): Show p.Arg431Cys	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	1407/5661	1291/2094	431/697	chr5	TogoVar
AHRR_chr5_316714_443285	434169	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0021 a0008c0013t0001g0021	1	268	0.0037	c.142 others(4): Show c.1429C>T	p.His others(6): Show p.His477Tyr	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	1545/5661	1429/2094	477/697	chr5	TogoVar
AHRR_chr5_316714_443285	434431	C C	T T	missense_variant missense_variant	MODERATE	HG01517.hp2 HG01517.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0170 a0010c0020t0001g0170	1	268	0.0037	c.169 others(4): Show c.1691C>T	p.Ala others(6): Show p.Ala564Val	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	1807/5661	1691/2094	564/697	chr5	TogoVar
AHRR_chr5_316714_443285	434607	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02293.hp1 HG02683.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 homoSapiens_chm13v2.hp1	a0003 a0015 a0003 a0015	a0003c0004 a0015c0016 a0003c0004 a0015c0016	a0003c0004t0004 a0003c0004t0012 a0003c0004t0028 others(3): Show a0003c0004t0004 a0003c0004t0012 a0003c0004t0028 a0003c0004t0053 a0003c0004t0054 a0015c0016t0015	a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 others(22): Show a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0004g0081 a0003c0004t0004g0093 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0180 a0003c0004t0004g0183 a0003c0004t0004g0185 a0003c0004t0004g0200 a0003c0004t0004g0204 a0003c0004t0012g0001 a0003c0004t0012g0110 a0003c0004t0012g0168 a0003c0004t0012g0195 a0003c0004t0028g0006 a0003c0004t0028g0217 a0003c0004t0053g0198 a0003c0004t0054g0165 a0015c0016t0015g0189	27	268	0.1008	c.186 others(4): Show c.1867G>C	p.Asp others(6): Show p.Asp623His	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	1983/5661	1867/2094	623/697	chr5	TogoVar
AHRR_chr5_316714_443285	434760	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG03225.hp1 HG02647.hp1 HG03225.hp1	a0014 a0016 a0014 a0016	a0014c0014 a0016c0012 a0014c0014 a0016c0012	a0014c0014t0020 a0016c0012t0020 a0014c0014t0020 a0016c0012t0020	a0014c0014t0020g0035 a0016c0012t0020g0239 a0014c0014t0020g0035 a0016c0012t0020g0239	2	268	0.0075	c.202 others(4): Show c.2020C>T	p.Pro others(6): Show p.Pro674Ser	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	2136/5661	2020/2094	674/697	chr5	TogoVar
AHR_chr7_17293652_17351147	17339234	A A	G G	missense_variant missense_variant	MODERATE	NA18990.hp2 NA18990.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0179 a0006c0011t0001g0179	1	370	0.0027	c.140 others(4): Show c.1409A>G	p.Tyr others(6): Show p.Tyr470Cys	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2022/6243	1409/2547	470/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17339252	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0043 a0007c0010t0043	a0007c0010t0043g0110 a0007c0010t0043g0110	1	370	0.0027	c.142 others(4): Show c.1427C>T	p.Ser others(6): Show p.Ser476Leu	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2040/6243	1427/2547	476/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17339280	T T	G G	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0008 a0010c0007t0008	a0010c0007t0008g0055 a0010c0007t0008g0055	1	370	0.0027	c.145 others(4): Show c.1455T>G	p.Phe others(6): Show p.Phe485Leu	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2068/6243	1455/2547	485/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17339284	A A	G G	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18992.hp1 NA18947.hp2 NA18992.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0004 a0004c0006t0001g0004	2	370	0.0054	c.145 others(4): Show c.1459A>G	p.Asn others(6): Show p.Asn487Asp	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2072/6243	1459/2547	487/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17339293	A A	G G	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0023 a0009c0009t0023	a0009c0009t0023g0049 a0009c0009t0023g0049	1	370	0.0027	c.146 others(4): Show c.1468A>G	p.Met others(6): Show p.Met490Val	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2081/6243	1468/2547	490/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17339374	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0012 a0008c0008t0012	a0008c0008t0012g0123 a0008c0008t0012g0123	1	370	0.0027	c.154 others(4): Show c.1549C>T	p.Pro others(6): Show p.Pro517Ser	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2162/6243	1549/2547	517/848	chr7	TogoVar
AHR_chr7_17293652_17351147	17339486	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(119): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0008 a0009	a0002c0002 a0002c0013 a0003c0004 others(4): Show a0002c0002 a0002c0013 a0003c0004 a0003c0012 a0007c0010 a0008c0008 a0009c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(19): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0002c0002t0045 a0002c0013t0016 a0003c0004t0004 a0003c0004t0012 a0003c0004t0021 a0003c0012t0012 a0007c0010t0043 a0008c0008t0012 a0009c0009t0023	a0002c0002t0001g0109 a0002c0002t0002g0002 a0002c0002t0002g0006 others(78): Show a0002c0002t0001g0109 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0172 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0004g0014 a0002c0002t0004g0086 a0002c0002t0004g0096 a0002c0002t0004g0108 a0002c0002t0004g0113 a0002c0002t0004g0124 a0002c0002t0004g0188 a0002c0002t0004g0189 a0002c0002t0004g0190 a0002c0002t0006g0005 a0002c0002t0006g0048 a0002c0002t0006g0128 a0002c0002t0006g0231 a0002c0002t0006g0232 a0002c0002t0006g0233 a0002c0002t0006g0235 a0002c0002t0007g0015 a0002c0002t0007g0118 a0002c0002t0007g0119 a0002c0002t0007g0120 a0002c0002t0007g0122 a0002c0002t0007g0125 a0002c0002t0007g0191 a0002c0002t0013g0016 a0002c0002t0016g0074 a0002c0002t0016g0075 a0002c0002t0017g0024 a0002c0002t0021g0014 a0002c0002t0022g0002 a0002c0002t0022g0077 a0002c0002t0026g0005 a0002c0002t0037g0121 a0002c0002t0038g0082 a0002c0002t0045g0126 a0002c0013t0016g0094 a0003c0004t0004g0196 a0003c0004t0012g0116 a0003c0004t0021g0195 a0003c0012t0012g0115 a0007c0010t0043g0110 a0008c0008t0012g0123 a0009c0009t0023g0049	122	370	0.3297	c.166 others(4): Show c.1661G>A	p.Arg others(6): Show p.Arg554Lys	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	10/11	2274/6243	1661/2547	554/848	chr7	TogoVar

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