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
AP5B1_chr11_65768898_65785976	65780111	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.382 others(3): Show c.382G>C	p.Ala others(6): Show p.Ala128Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	767/6980	382/2637	128/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780113	A A	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.380 others(3): Show c.380T>C	p.Leu others(6): Show p.Leu127Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	765/6980	380/2637	127/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780116	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.377 others(3): Show c.377G>C	p.Gly others(6): Show p.Gly126Ala	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	762/6980	377/2637	126/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780117	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.376 others(3): Show c.376G>C	p.Gly others(6): Show p.Gly126Arg	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	761/6980	376/2637	126/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780119	A A	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.374 others(3): Show c.374T>C	p.Leu others(6): Show p.Leu125Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	759/6980	374/2637	125/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780122	A A	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.371 others(3): Show c.371T>C	p.Leu others(6): Show p.Leu124Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	756/6980	371/2637	124/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780125	A A	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.368 others(3): Show c.368T>C	p.Leu others(6): Show p.Leu123Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	753/6980	368/2637	123/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780131	A A	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.362 others(3): Show c.362T>C	p.Leu others(6): Show p.Leu121Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	747/6980	362/2637	121/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780138	G G	C C	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0064 a0007c0027t0002g0064	1	424	0.0024	c.355 others(3): Show c.355C>G	p.Arg others(6): Show p.Arg119Gly	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	740/6980	355/2637	119/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780267	T T	C C	missense_variant missense_variant	MODERATE	NA20805.hp1 NA20805.hp1	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0002 a0006c0029t0002	a0006c0029t0002g0035 a0006c0029t0002g0035	1	424	0.0024	c.226 others(3): Show c.226A>G	p.Thr others(5): Show p.Thr76Ala	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	611/6980	226/2637	76/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780320	A A	G G	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0037 a0014c0013t0001g0037	1	424	0.0024	c.173 others(3): Show c.173T>C	p.Met others(5): Show p.Met58Thr	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	558/6980	173/2637	58/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780332	A A	T T	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0002 a0015c0012t0002	a0015c0012t0002g0036 a0015c0012t0002g0036	1	424	0.0024	c.161 others(3): Show c.161T>A	p.Leu others(5): Show p.Leu54Gln	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	546/6980	161/2637	54/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780549	C C	A A	missense_variant missense_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0065 a0016c0030t0001g0065	1	424	0.0024	c.43G others(2): Show c.43G>T	p.Ala others(5): Show p.Ala15Ser	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	1/2	428/6980	43/2637	15/878	chr11	TogoVar
AP5M1_chr14_57263971_57303742	57269330	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02717.hp1 HG02723.hp1 others(2): Show HG02451.hp2 HG02717.hp1 HG02723.hp1 HG03139.hp1 HG03471.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0026 a0004c0005t0030 a0004c0005t0013 a0004c0005t0026 a0004c0005t0030	a0004c0005t0013g0012 a0004c0005t0026g0098 a0004c0005t0030g0012 a0004c0005t0013g0012 a0004c0005t0026g0098 a0004c0005t0030g0012	5	280	0.0179	c.16G others(2): Show c.16G>A	p.Val others(4): Show p.Val6Met	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	1/8	360/11675	16/1473	6/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57274246	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 NA18522.hp2 HG03195.hp1 NA18522.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0003 a0006c0007t0002g0004 a0006c0007t0002g0003 a0006c0007t0002g0004	2	280	0.0071	c.77G others(2): Show c.77G>A	p.Arg others(5): Show p.Arg26Gln	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	421/11675	77/1473	26/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57274437	G G	A A	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0001 a0008c0010t0001g0001	1	280	0.0036	c.268 others(3): Show c.268G>A	p.Gly others(5): Show p.Gly90Ser	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	612/11675	268/1473	90/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57274845	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02486.hp1 HG02559.hp1 others(8): Show HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0022 others(1): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0022 a0003c0004t0023	a0003c0004t0004g0008 a0003c0004t0004g0019 a0003c0004t0004g0102 others(4): Show a0003c0004t0004g0008 a0003c0004t0004g0019 a0003c0004t0004g0102 a0003c0004t0004g0103 a0003c0004t0011g0008 a0003c0004t0022g0101 a0003c0004t0023g0008	11	280	0.0393	c.676 others(3): Show c.676G>C	p.Gly others(6): Show p.Gly226Arg	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	1020/11675	676/1473	226/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57282982	A A	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01243.hp1 HG01358.hp2 others(13): Show HG01109.hp1 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG02280.hp2 HG02615.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0012 a0002c0003t0027 a0002c0003t0002 a0002c0003t0012 a0002c0003t0027	a0002c0003t0002g0004 a0002c0003t0002g0009 a0002c0003t0002g0052 others(6): Show a0002c0003t0002g0004 a0002c0003t0002g0009 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0108 a0002c0003t0012g0004 a0002c0003t0027g0004	16	280	0.0571	c.113 others(4): Show c.1137A>C	p.Glu others(6): Show p.Glu379Asp	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	5/8	1481/11675	1137/1473	379/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57286319	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0020 a0007c0008t0003g0020	2	280	0.0071	c.139 others(4): Show c.1390C>T	p.His others(6): Show p.His464Tyr	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	7/8	1734/11675	1390/1473	464/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57288846	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01981.hp1 HG02148.hp2 HG00639.hp2 HG01981.hp1 HG02148.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0062 a0005c0006t0001g0001 a0005c0006t0001g0062	3	280	0.0107	c.143 others(4): Show c.1435G>A	p.Ala others(6): Show p.Ala479Thr	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	8/8	1779/11675	1435/1473	479/490	chr14	TogoVar
AP5S1_chr20_3815547_3833838	3822266	G G	A A	missense_variant missense_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	412	0.0024	c.149 others(3): Show c.149G>A	p.Arg others(5): Show p.Arg50Gln	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	2/3	377/5372	149/603	50/200	chr20	TogoVar
AP5S1_chr20_3815547_3833838	3824113	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02258.hp1 HG03540.hp2 HG01109.hp1 HG02258.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0002 a0002c0002t0010g0002	3	412	0.0073	c.419 others(3): Show c.419G>A	p.Arg others(6): Show p.Arg140Gln	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	3/3	647/5372	419/603	140/200	chr20	TogoVar
AP5S1_chr20_3815547_3833838	3824136	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0056 a0006c0004t0056	a0006c0004t0056g0010 a0006c0004t0056g0010	1	412	0.0024	c.442 others(3): Show c.442G>A	p.Asp others(6): Show p.Asp148Asn	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	3/3	670/5372	442/603	148/200	chr20	TogoVar
AP5S1_chr20_3815547_3833838	3824209	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0038 a0004c0005t0038	a0004c0005t0038g0020 a0004c0005t0038g0020	1	412	0.0024	c.515 others(3): Show c.515G>A	p.Arg others(6): Show p.Arg172His	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	3/3	743/5372	515/603	172/200	chr20	TogoVar
AP5S1_chr20_3815547_3833838	3824211	T T	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0002 a0005c0006t0002g0002	1	412	0.0024	c.517 others(3): Show c.517T>G	p.Phe others(6): Show p.Phe173Val	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	3/3	745/5372	517/603	173/200	chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4781188	G G	A A	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0022 a0022	a0022c0015 a0022c0015	a0022c0015t0008 a0022c0015t0008	a0022c0015t0008g0001 a0022c0015t0008g0001	1	340	0.0029	c.55G others(2): Show c.55G>A	p.Glu others(5): Show p.Glu19Lys	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	2/17	148/5529	55/2424	19/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4781297	C C	T T	missense_variant missense_variant	MODERATE	HG01358.hp1 HG02132.hp1 HG01358.hp1 HG02132.hp1	a0008 a0008	a0008c0034 a0008c0035 a0008c0034 a0008c0035	a0008c0034t0001 a0008c0035t0042 a0008c0034t0001 a0008c0035t0042	a0008c0034t0001g0158 a0008c0035t0042g0001 a0008c0034t0001g0158 a0008c0035t0042g0001	2	340	0.0059	c.164 others(3): Show c.164C>T	p.Thr others(5): Show p.Thr55Met	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	2/17	257/5529	164/2424	55/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4781669	C C	G G	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG03491.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0067 a0004c0007t0012g0015 a0004c0007t0012g0067	4	340	0.0118	c.281 others(3): Show c.281C>G	p.Ser others(5): Show p.Ser94Cys	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	3/17	374/5529	281/2424	94/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4781717	G G	A A	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0136 a0012c0016t0001g0136	1	340	0.0029	c.329 others(3): Show c.329G>A	p.Arg others(6): Show p.Arg110Gln	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	3/17	422/5529	329/2424	110/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4781721	G G	C C	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG03491.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0067 a0004c0007t0012g0015 a0004c0007t0012g0067	4	340	0.0118	c.333 others(3): Show c.333G>C	p.Gln others(6): Show p.Gln111His	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	3/17	426/5529	333/2424	111/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4783328	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02451.hp1 NA18906.hp2 HG01243.hp2 HG02451.hp1 NA18906.hp2	a0007 a0007	a0007c0011 a0007c0018 a0007c0011 a0007c0018	a0007c0011t0007 a0007c0018t0019 a0007c0011t0007 a0007c0018t0019	a0007c0011t0007g0028 a0007c0018t0019g0054 a0007c0011t0007g0028 a0007c0018t0019g0054	3	340	0.0088	c.379 others(3): Show c.379G>A	p.Glu others(6): Show p.Glu127Lys	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	4/17	472/5529	379/2424	127/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4783439	A A	G G	missense_variant missense_variant	MODERATE	NA18960.hp2 NA18960.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0001 a0013c0032t0001	a0013c0032t0001g0022 a0013c0032t0001g0022	1	340	0.0029	c.490 others(3): Show c.490A>G	p.Ser others(6): Show p.Ser164Gly	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	4/17	583/5529	490/2424	164/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4783761	A A	G G	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18975.hp1 NA19064.hp1 NA18951.hp1 NA18975.hp1 NA19064.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0001 a0006c0009t0001g0134 a0006c0009t0001g0001 a0006c0009t0001g0134	3	340	0.0088	c.584 others(3): Show c.584A>G	p.His others(6): Show p.His195Arg	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	5/17	677/5529	584/2424	195/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4783784	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0001 a0021c0031t0001	a0021c0031t0001g0001 a0021c0031t0001g0001	1	340	0.0029	c.607 others(3): Show c.607C>T	p.Pro others(6): Show p.Pro203Ser	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	5/17	700/5529	607/2424	203/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784264	G G	C C	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0109 a0020c0019t0001g0109	1	340	0.0029	c.683 others(3): Show c.683G>C	p.Ser others(6): Show p.Ser228Thr	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	6/17	776/5529	683/2424	228/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784354	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0047 a0014c0028t0047	a0014c0028t0047g0091 a0014c0028t0047g0091	1	340	0.0029	c.773 others(3): Show c.773C>T	p.Pro others(6): Show p.Pro258Leu	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	6/17	866/5529	773/2424	258/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4785676	T T	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG01074.hp1 HG01261.hp2 others(28): Show HG00597.hp1 HG01074.hp1 HG01261.hp2 HG02074.hp2 HG02486.hp2 HG02698.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18962.hp2 NA18969.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1	a0002 a0002	a0002c0003 a0002c0030 a0002c0033 a0002c0003 a0002c0030 a0002c0033	a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 others(2): Show a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 a0002c0030t0002 a0002c0033t0002	a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 others(18): Show a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0047 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0104 a0002c0003t0002g0174 a0002c0003t0011g0003 a0002c0003t0011g0025 a0002c0003t0011g0057 a0002c0003t0043g0025 a0002c0030t0002g0014 a0002c0033t0002g0047	31	340	0.0912	c.112 others(4): Show c.1124T>A	p.Leu others(6): Show p.Leu375Gln	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	9/17	1217/5529	1124/2424	375/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4787707	C C	G G	missense_variant missense_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0020 a0015c0029t0020	a0015c0029t0020g0082 a0015c0029t0020g0082	1	340	0.0029	c.138 others(4): Show c.1385C>G	p.Thr others(6): Show p.Thr462Arg	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	11/17	1478/5529	1385/2424	462/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4788162	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02155.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0001 a0016c0026t0001g0001	1	340	0.0029	c.146 others(4): Show c.1463C>T	p.Pro others(6): Show p.Pro488Leu	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	12/17	1556/5529	1463/2424	488/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4788222	C C	G G	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03225.hp2 HG02922.hp1 HG03225.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0021 a0011c0013t0045 a0011c0013t0021 a0011c0013t0045	a0011c0013t0021g0030 a0011c0013t0045g0030 a0011c0013t0021g0030 a0011c0013t0045g0030	2	340	0.0059	c.152 others(4): Show c.1523C>G	p.Ala others(6): Show p.Ala508Gly	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	12/17	1616/5529	1523/2424	508/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4788228	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG03491.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0067 a0004c0007t0012g0015 a0004c0007t0012g0067	4	340	0.0118	c.152 others(4): Show c.1529G>A	p.Arg others(6): Show p.Arg510Gln	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	12/17	1622/5529	1529/2424	510/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4790763	C C	G G	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0024 a0019c0017t0024	a0019c0017t0024g0097 a0019c0017t0024g0097	1	340	0.0029	c.202 others(4): Show c.2029C>G	p.Leu others(6): Show p.Leu677Val	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	16/17	2122/5529	2029/2424	677/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4790817	C C	A A	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18947.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0002 a0018c0022t0001g0002	1	340	0.0029	c.208 others(4): Show c.2083C>A	p.Pro others(6): Show p.Pro695Thr	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	16/17	2176/5529	2083/2424	695/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4790832	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp1 HG01433.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0021 a0017c0023t0001g0021	1	340	0.0029	c.209 others(4): Show c.2098G>A	p.Val others(6): Show p.Val700Met	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	16/17	2191/5529	2098/2424	700/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4791191	G G	A A	missense_variant missense_variant	MODERATE	HG02897.hp2 HG02922.hp1 HG02970.hp1 others(2): Show HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp1	a0010 a0011 a0015 a0010 a0011 a0015	a0010c0012 a0011c0013 a0015c0029 a0010c0012 a0011c0013 a0015c0029	a0010c0012t0007 a0010c0012t0046 a0011c0013t0021 others(2): Show a0010c0012t0007 a0010c0012t0046 a0011c0013t0021 a0011c0013t0045 a0015c0029t0020	a0010c0012t0007g0004 a0010c0012t0046g0178 a0011c0013t0021g0030 others(2): Show a0010c0012t0007g0004 a0010c0012t0046g0178 a0011c0013t0021g0030 a0011c0013t0045g0030 a0015c0029t0020g0082	5	340	0.0147	c.223 others(4): Show c.2230G>A	p.Ala others(6): Show p.Ala744Thr	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2323/5529	2230/2424	744/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4791266	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02886.hp2 HG03041.hp1 HG01891.hp2 HG02886.hp2 HG03041.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0013 a0005c0008t0013	a0005c0008t0013g0033 a0005c0008t0013g0092 a0005c0008t0013g0033 a0005c0008t0013g0092	3	340	0.0088	c.230 others(4): Show c.2305A>G	p.Thr others(6): Show p.Thr769Ala	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2398/5529	2305/2424	769/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4791289	C C	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 NA18522.hp2 NA20300.hp1 HG03139.hp2 NA18522.hp2 NA20300.hp1	a0009 a0019 a0009 a0019	a0009c0010 a0019c0017 a0009c0010 a0019c0017	a0009c0010t0023 a0009c0010t0025 a0019c0017t0024 a0009c0010t0023 a0009c0010t0025 a0019c0017t0024	a0009c0010t0023g0034 a0009c0010t0025g0034 a0019c0017t0024g0097 a0009c0010t0023g0034 a0009c0010t0025g0034 a0019c0017t0024g0097	3	340	0.0088	c.232 others(4): Show c.2328C>A	p.Ser others(6): Show p.Ser776Arg	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2421/5529	2328/2424	776/807	chr7	TogoVar
APAF1_chr12_98640290_98740433	98648493	A A	G G	missense_variant missense_variant	MODERATE	NA18946.hp2 NA19054.hp2 NA18946.hp2 NA19054.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0256 a0004c0006t0001g0356 a0004c0006t0001g0256 a0004c0006t0001g0356	2	366	0.0055	c.134 others(3): Show c.134A>G	p.Asn others(5): Show p.Asn45Ser	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	2/27	721/7201	134/3747	45/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98649657	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0029 a0009c0007t0029	a0009c0007t0029g0304 a0009c0007t0029g0304	1	366	0.0027	c.499 others(3): Show c.499G>A	p.Ala others(6): Show p.Ala167Thr	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/27	1086/7201	499/3747	167/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98662550	G G	A A	missense_variant missense_variant	MODERATE	NA19065.hp1 NA19065.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0011 a0005c0008t0011	a0005c0008t0011g0142 a0005c0008t0011g0142	1	366	0.0027	c.805 others(3): Show c.805G>A	p.Val others(6): Show p.Val269Ile	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	6/27	1392/7201	805/3747	269/1248	chr12	TogoVar

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