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
AFAP1L1_chr5_149266859_149348637	149301154	G G	A A	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01515.hp1 HG02559.hp1 HG01192.hp2 HG01515.hp1 HG02559.hp1	a0003 a0003	a0003c0005 a0003c0008 a0003c0005 a0003c0008	a0003c0005t0002 a0003c0008t0002 a0003c0005t0002 a0003c0008t0002	a0003c0005t0002g0236 a0003c0005t0002g0268 a0003c0008t0002g0267 a0003c0005t0002g0236 a0003c0005t0002g0268 a0003c0008t0002g0267	3	286	0.0105	c.251 others(3): Show c.251G>A	p.Arg others(5): Show p.Arg84Gln	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	4/19	361/6024	251/2307	84/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149301214	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03486.hp1 NA18906.hp1 HG02976.hp2 HG03486.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0022 a0004c0004t0001 a0004c0004t0003 a0004c0004t0022	a0004c0004t0001g0191 a0004c0004t0003g0019 a0004c0004t0022g0174 a0004c0004t0001g0191 a0004c0004t0003g0019 a0004c0004t0022g0174	3	286	0.0105	c.311 others(3): Show c.311G>A	p.Ser others(6): Show p.Ser104Asn	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	4/19	421/6024	311/2307	104/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149302446	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02897.hp1 HG03041.hp1 HG01243.hp1 HG02897.hp1 HG03041.hp1	a0006 a0010 a0006 a0010	a0006c0007 a0010c0013 a0006c0007 a0010c0013	a0006c0007t0008 a0006c0007t0010 a0010c0013t0001 a0006c0007t0008 a0006c0007t0010 a0010c0013t0001	a0006c0007t0008g0060 a0006c0007t0010g0152 a0010c0013t0001g0207 a0006c0007t0008g0060 a0006c0007t0010g0152 a0010c0013t0001g0207	3	286	0.0105	c.356 others(3): Show c.356A>G	p.Asn others(6): Show p.Asn119Ser	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	5/19	466/6024	356/2307	119/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149312199	G G	C C	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0156 a0005c0006t0001g0159 a0005c0006t0001g0156 a0005c0006t0001g0159	2	286	0.0070	c.101 others(4): Show c.1015G>C	p.Asp others(6): Show p.Asp339His	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	9/19	1125/6024	1015/2307	339/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149316262	A A	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02280.hp2 HG02559.hp2 others(8): Show HG01243.hp2 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 others(1): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0027	a0002c0002t0003g0008 a0002c0002t0003g0013 a0002c0002t0003g0014 others(8): Show a0002c0002t0003g0008 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0063 a0002c0002t0003g0171 a0002c0002t0003g0208 a0002c0002t0003g0221 a0002c0002t0006g0012 a0002c0002t0007g0006 a0002c0002t0007g0007 a0002c0002t0027g0011	11	286	0.0385	c.122 others(4): Show c.1226A>T	p.Asp others(6): Show p.Asp409Val	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	11/19	1336/6024	1226/2307	409/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149317783	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG03041.hp1 HG03225.hp2 HG01243.hp1 HG03041.hp1 HG03225.hp2	a0006 a0009 a0006 a0009	a0006c0007 a0009c0012 a0006c0007 a0009c0012	a0006c0007t0008 a0006c0007t0010 a0009c0012t0010 a0006c0007t0008 a0006c0007t0010 a0009c0012t0010	a0006c0007t0008g0060 a0006c0007t0010g0152 a0009c0012t0010g0061 a0006c0007t0008g0060 a0006c0007t0010g0152 a0009c0012t0010g0061	3	286	0.0105	c.132 others(4): Show c.1322A>G	p.Lys others(6): Show p.Lys441Arg	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	12/19	1432/6024	1322/2307	441/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149320426	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0148 a0007c0010t0002g0148	1	286	0.0035	c.166 others(4): Show c.1661C>T	p.Pro others(6): Show p.Pro554Leu	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	14/19	1771/6024	1661/2307	554/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149322678	C C	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0017 a0008c0009t0017	a0008c0009t0017g0157 a0008c0009t0017g0157	1	286	0.0035	c.177 others(4): Show c.1771C>A	p.Arg others(6): Show p.Arg591Ser	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	15/19	1881/6024	1771/2307	591/768	chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114297016	C C	T T	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0022 a0011c0025t0022	a0011c0025t0022g0234 a0011c0025t0022g0234	1	262	0.0038	c.239 others(4): Show c.2392G>A	p.Val others(6): Show p.Val798Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	18/19	2439/3722	2392/2457	798/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300301	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0007 a0010c0032t0007	a0010c0032t0007g0013 a0010c0032t0007g0013	1	262	0.0038	c.185 others(4): Show c.1850C>T	p.Thr others(6): Show p.Thr617Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	15/19	1897/3722	1850/2457	617/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300507	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02647.hp1 HG02886.hp1 others(4): Show HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp1 HG03041.hp1 NA18906.hp2 NA21309.hp1	a0004 a0004	a0004c0009 a0004c0013 a0004c0009 a0004c0013	a0004c0009t0009 a0004c0009t0012 a0004c0013t0009 a0004c0009t0009 a0004c0009t0012 a0004c0013t0009	a0004c0009t0009g0009 a0004c0009t0009g0079 a0004c0009t0009g0218 others(4): Show a0004c0009t0009g0009 a0004c0009t0009g0079 a0004c0009t0009g0218 a0004c0009t0009g0242 a0004c0009t0012g0102 a0004c0013t0009g0020 a0004c0013t0009g0216	7	262	0.0267	c.172 others(4): Show c.1726T>C	p.Ser others(6): Show p.Ser576Pro	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	14/19	1773/3722	1726/2457	576/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300668	G G	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01109.hp2 HG01243.hp1 others(10): Show HG00642.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02451.hp1 HG02735.hp1 HG02895.hp2 HG03139.hp1 HG03195.hp1 HG03704.hp1 HG03834.hp1 NA19043.hp1 NA19240.hp1	a0003 a0005 a0003 a0005	a0003c0007 a0003c0026 a0005c0010 others(1): Show a0003c0007 a0003c0026 a0005c0010 a0005c0021	a0003c0007t0006 a0003c0026t0015 a0005c0010t0006 others(1): Show a0003c0007t0006 a0003c0026t0015 a0005c0010t0006 a0005c0021t0006	a0003c0007t0006g0025 a0003c0007t0006g0110 a0003c0007t0006g0151 others(10): Show a0003c0007t0006g0025 a0003c0007t0006g0110 a0003c0007t0006g0151 a0003c0007t0006g0193 a0003c0007t0006g0207 a0003c0007t0006g0250 a0003c0007t0006g0251 a0003c0026t0015g0157 a0005c0010t0006g0138 a0005c0010t0006g0221 a0005c0010t0006g0222 a0005c0010t0006g0225 a0005c0021t0006g0229	13	262	0.0496	c.156 others(4): Show c.1565C>G	p.Thr others(6): Show p.Thr522Ser	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	14/19	1612/3722	1565/2457	522/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114304769	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01884.hp2 HG02257.hp2 others(27): Show HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0011	a0002c0005 a0002c0006 a0002c0015 others(5): Show a0002c0005 a0002c0006 a0002c0015 a0002c0031 a0003c0007 a0003c0026 a0010c0032 a0011c0025	a0002c0005t0003 a0002c0005t0005 a0002c0006t0007 others(8): Show a0002c0005t0003 a0002c0005t0005 a0002c0006t0007 a0002c0006t0021 a0002c0015t0007 a0002c0015t0019 a0002c0031t0020 a0003c0007t0006 a0003c0026t0015 a0010c0032t0007 a0011c0025t0022	a0002c0005t0003g0012 a0002c0005t0003g0022 a0002c0005t0003g0023 others(27): Show a0002c0005t0003g0012 a0002c0005t0003g0022 a0002c0005t0003g0023 a0002c0005t0003g0194 a0002c0005t0003g0217 a0002c0005t0005g0125 a0002c0005t0005g0156 a0002c0005t0005g0239 a0002c0005t0005g0249 a0002c0006t0007g0017 a0002c0006t0007g0029 a0002c0006t0007g0033 a0002c0006t0007g0051 a0002c0006t0007g0167 a0002c0006t0007g0168 a0002c0006t0007g0195 a0002c0006t0021g0205 a0002c0015t0007g0121 a0002c0015t0019g0247 a0002c0031t0020g0024 a0003c0007t0006g0025 a0003c0007t0006g0110 a0003c0007t0006g0151 a0003c0007t0006g0193 a0003c0007t0006g0207 a0003c0007t0006g0250 a0003c0007t0006g0251 a0003c0026t0015g0157 a0010c0032t0007g0013 a0011c0025t0022g0234	30	262	0.1145	c.123 others(4): Show c.1234C>T	p.Leu others(6): Show p.Leu412Phe	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	11/19	1281/3722	1234/2457	412/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114308469	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0023 a0009c0027t0023	a0009c0027t0023g0061 a0009c0027t0023g0061	1	262	0.0038	c.931 others(3): Show c.931G>A	p.Val others(6): Show p.Val311Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	9/19	978/3722	931/2457	311/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114310370	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0049 a0006c0014t0003g0050 a0006c0014t0003g0049 a0006c0014t0003g0050	2	262	0.0076	c.866 others(3): Show c.866G>A	p.Arg others(6): Show p.Arg289His	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	8/19	913/3722	866/2457	289/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114313938	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0034 a0008c0033t0003g0034	1	262	0.0038	c.725 others(3): Show c.725C>T	p.Thr others(6): Show p.Thr242Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	7/19	772/3722	725/2457	242/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114323252	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0012 a0012	a0012c0034 a0012c0034	a0012c0034t0004 a0012c0034t0004	a0012c0034t0004g0244 a0012c0034t0004g0244	1	262	0.0038	c.325 others(3): Show c.325C>T	p.Arg others(6): Show p.Arg109Trp	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	5/19	372/3722	325/2457	109/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114331870	T T	C C	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0130 a0007c0017t0001g0131 a0007c0017t0001g0130 a0007c0017t0001g0131	2	262	0.0076	c.248 others(3): Show c.248A>G	p.Asn others(5): Show p.Asn83Ser	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/19	295/3722	248/2457	83/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114340702	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03490.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0091 a0013c0018t0002g0091	1	262	0.0038	c.46G others(2): Show c.46G>A	p.Asp others(5): Show p.Asp16Asn	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	2/19	93/3722	46/2457	16/818	chr10	TogoVar
AFAP1_chr4_7753714_7944861	7778797	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0214 a0005c0018t0004g0215 a0005c0018t0004g0214 a0005c0018t0004g0215	2	318	0.0063	c.186 others(4): Show c.1862C>T	p.Ala others(6): Show p.Ala621Val	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	14/18	2070/7704	1862/2445	621/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7778855	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00639.hp2 HG00735.hp2 others(17): Show HG00408.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01516.hp1 HG02040.hp1 HG02083.hp2 HG02293.hp2 HG03239.hp1 NA18612.hp2 NA18940.hp1 NA18947.hp1 NA18950.hp2 NA18956.hp2 NA18966.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0013 a0003c0027 others(2): Show a0003c0006 a0003c0013 a0003c0027 a0003c0028 a0003c0041	a0003c0006t0005 a0003c0006t0019 a0003c0006t0051 others(4): Show a0003c0006t0005 a0003c0006t0019 a0003c0006t0051 a0003c0013t0005 a0003c0027t0005 a0003c0028t0005 a0003c0041t0005	a0003c0006t0005g0078 a0003c0006t0005g0095 a0003c0006t0005g0096 others(17): Show a0003c0006t0005g0078 a0003c0006t0005g0095 a0003c0006t0005g0096 a0003c0006t0005g0097 a0003c0006t0005g0137 a0003c0006t0005g0142 a0003c0006t0005g0143 a0003c0006t0005g0145 a0003c0006t0005g0239 a0003c0006t0005g0249 a0003c0006t0019g0134 a0003c0006t0019g0150 a0003c0006t0019g0264 a0003c0006t0051g0051 a0003c0013t0005g0107 a0003c0013t0005g0113 a0003c0013t0005g0232 a0003c0027t0005g0138 a0003c0028t0005g0188 a0003c0041t0005g0094	20	318	0.0629	c.180 others(4): Show c.1804G>A	p.Val others(6): Show p.Val602Met	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	14/18	2012/7704	1804/2445	602/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7800500	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01070.hp1 HG01106.hp2 others(35): Show HG00140.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 NA18964.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0005 a0002c0008 a0002c0035 others(4): Show a0002c0005 a0002c0008 a0002c0035 a0002c0039 a0002c0040 a0005c0018 a0008c0042	a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 others(11): Show a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 a0002c0005t0063 a0002c0005t0064 a0002c0008t0004 a0002c0008t0031 a0002c0008t0054 a0002c0008t0055 a0002c0035t0001 a0002c0039t0072 a0002c0040t0073 a0005c0018t0004 a0008c0042t0004	a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 others(35): Show a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0218 a0002c0005t0004g0219 a0002c0005t0004g0230 a0002c0005t0004g0244 a0002c0005t0004g0266 a0002c0005t0004g0275 a0002c0005t0004g0280 a0002c0005t0004g0285 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0004g0306 a0002c0005t0004g0307 a0002c0005t0004g0308 a0002c0005t0033g0010 a0002c0005t0033g0011 a0002c0005t0035g0317 a0002c0005t0035g0318 a0002c0005t0063g0015 a0002c0005t0064g0245 a0002c0008t0004g0146 a0002c0008t0004g0147 a0002c0008t0004g0149 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0031g0288 a0002c0008t0031g0289 a0002c0008t0054g0148 a0002c0008t0055g0133 a0002c0035t0001g0257 a0002c0039t0072g0314 a0002c0040t0073g0315 a0005c0018t0004g0214 a0005c0018t0004g0215 a0008c0042t0004g0231	38	318	0.1195	c.120 others(4): Show c.1208C>G	p.Ser others(6): Show p.Ser403Cys	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	10/18	1416/7704	1208/2445	403/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7809739	G G	A A	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0029 a0004c0019t0029	a0004c0019t0029g0191 a0004c0019t0029g0192 a0004c0019t0029g0191 a0004c0019t0029g0192	2	318	0.0063	c.929 others(3): Show c.929C>T	p.Ser others(6): Show p.Ser310Leu	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	9/18	1137/7704	929/2445	310/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7838559	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0002 a0007c0029t0002	a0007c0029t0002g0032 a0007c0029t0002g0032	1	318	0.0031	c.691 others(3): Show c.691G>A	p.Val others(6): Show p.Val231Ile	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/18	899/7704	691/2445	231/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7843335	G G	A A	missense_variant missense_variant	MODERATE	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0004 a0008c0042t0004	a0008c0042t0004g0231 a0008c0042t0004g0231	1	318	0.0031	c.350 others(3): Show c.350C>T	p.Ala others(6): Show p.Ala117Val	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/18	558/7704	350/2445	117/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7872023	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0046 a0006c0046	a0006c0046t0012 a0006c0046t0012	a0006c0046t0012g0001 a0006c0046t0012g0001	1	318	0.0031	c.56A others(2): Show c.56A>G	p.Tyr others(5): Show p.Tyr19Cys	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	2/18	264/7704	56/2445	19/814	chr4	TogoVar
AFDN_chr6_167821911_167977023	167872325	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0248 a0005c0008t0002g0252 a0005c0008t0002g0253 a0005c0008t0002g0248 a0005c0008t0002g0252 a0005c0008t0002g0253	3	326	0.0092	c.526 others(3): Show c.526G>A	p.Ala others(6): Show p.Ala176Thr	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	4/34	748/7806	526/5496	176/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167872353	A A	G G	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0001 a0015c0033t0001	a0015c0033t0001g0030 a0015c0033t0001g0030	1	326	0.0031	c.554 others(3): Show c.554A>G	p.Asp others(6): Show p.Asp185Gly	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	4/34	776/7806	554/5496	185/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167893903	G G	A A	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0082 a0014c0015t0001g0082	1	326	0.0031	c.121 others(4): Show c.1219G>A	p.Glu others(6): Show p.Glu407Lys	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	9/34	1441/7806	1219/5496	407/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167896967	A A	G G	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02735.hp2 HG03239.hp2 HG01496.hp2 HG02735.hp2 HG03239.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0125 a0004c0011t0001g0127 a0004c0011t0001g0128 a0004c0011t0001g0125 a0004c0011t0001g0127 a0004c0011t0001g0128	3	326	0.0092	c.131 others(4): Show c.1312A>G	p.Ile others(6): Show p.Ile438Val	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	10/34	1534/7806	1312/5496	438/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167944048	T T	A A	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0158 a0006c0025t0001g0158	1	326	0.0031	c.334 others(4): Show c.3347T>A	p.Met others(7): Show p.Met1116Lys	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	26/34	3569/7806	3347/5496	1116/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167947879	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0203 a0007c0021t0001g0203	1	326	0.0031	c.358 others(4): Show c.3580A>G	p.Ser others(7): Show p.Ser1194Gly	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	28/34	3802/7806	3580/5496	1194/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167948306	C C	T T	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0259 a0008c0020t0002g0259	1	326	0.0031	c.365 others(4): Show c.3659C>T	p.Pro others(7): Show p.Pro1220Leu	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	29/34	3881/7806	3659/5496	1220/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167951472	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0003 a0009c0019t0003	a0009c0019t0003g0281 a0009c0019t0003g0281	1	326	0.0031	c.411 others(4): Show c.4118C>T	p.Pro others(7): Show p.Pro1373Leu	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4340/7806	4118/5496	1373/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167951742	C C	A A	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0119 a0010c0026t0001g0119	1	326	0.0031	c.438 others(4): Show c.4388C>A	p.Pro others(7): Show p.Pro1463His	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4610/7806	4388/5496	1463/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167951765	C C	A A	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0209 a0013c0027t0001g0209	1	326	0.0031	c.441 others(4): Show c.4411C>A	p.Pro others(7): Show p.Pro1471Thr	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4633/7806	4411/5496	1471/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167952182	G G	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0011 a0012c0023t0011	a0012c0023t0011g0272 a0012c0023t0011g0272	1	326	0.0031	c.482 others(4): Show c.4828G>T	p.Ala others(7): Show p.Ala1610Ser	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	5050/7806	4828/5496	1610/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167969868	A A	C C	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01496.hp1 HG01975.hp1 HG01361.hp1 HG01496.hp1 HG01975.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0009 a0003c0009t0001 a0003c0009t0009	a0003c0009t0001g0167 a0003c0009t0001g0208 a0003c0009t0009g0168 a0003c0009t0001g0167 a0003c0009t0001g0208 a0003c0009t0009g0168	3	326	0.0092	c.542 others(4): Show c.5429A>C	p.Asp others(7): Show p.Asp1810Ala	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	34/34	5651/7806	5429/5496	1810/1831	chr6	TogoVar
AFF1_chr4_86930011_87146039	86948544	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0011 a0005c0032t0011	a0005c0032t0011g0103 a0005c0032t0011g0103	1	294	0.0034	c.11C others(2): Show c.11C>T	p.Thr others(4): Show p.Thr4Ile	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/21	277/9261	11/3657	4/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87046171	A A	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0010 a0006c0031t0010	a0006c0031t0010g0162 a0006c0031t0010g0162	1	294	0.0034	c.44A others(2): Show c.44A>T	p.Tyr others(5): Show p.Tyr15Phe	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	3/21	310/9261	44/3657	15/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87046774	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0038 a0007c0029t0038	a0007c0029t0038g0001 a0007c0029t0038g0001	1	294	0.0034	c.239 others(3): Show c.239C>T	p.Thr others(5): Show p.Thr80Ile	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	505/9261	239/3657	80/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047010	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp1 NA19081.hp2 NA18940.hp1 NA19081.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0057 a0004c0009t0004g0225 a0004c0009t0004g0057 a0004c0009t0004g0225	2	294	0.0068	c.475 others(3): Show c.475G>A	p.Gly others(6): Show p.Gly159Ser	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	741/9261	475/3657	159/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047013	C C	A A	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0018 a0018	a0018c0013 a0018c0013	a0018c0013t0070 a0018c0013t0070	a0018c0013t0070g0010 a0018c0013t0070g0010	1	294	0.0034	c.478 others(3): Show c.478C>A	p.Pro others(6): Show p.Pro160Thr	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	744/9261	478/3657	160/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047181	C C	G G	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0003 a0008c0027t0003	a0008c0027t0003g0045 a0008c0027t0003g0045	1	294	0.0034	c.646 others(3): Show c.646C>G	p.Pro others(6): Show p.Pro216Ala	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	912/9261	646/3657	216/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047198	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0036 a0017c0026t0036	a0017c0026t0036g0260 a0017c0026t0036g0260	1	294	0.0034	c.663 others(3): Show c.663A>G	p.Ile others(6): Show p.Ile221Met	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	929/9261	663/3657	221/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87108226	A A	T T	missense_variant missense_variant	MODERATE	NA18981.hp1 NA18981.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0150 a0009c0024t0001g0150	1	294	0.0034	c.144 others(4): Show c.1444A>T	p.Ser others(6): Show p.Ser482Cys	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	11/21	1710/9261	1444/3657	482/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114434	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0015 a0016c0023t0015	a0016c0023t0015g0113 a0016c0023t0015g0113	1	294	0.0034	c.160 others(4): Show c.1601C>T	p.Ala others(6): Show p.Ala534Val	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	1867/9261	1601/3657	534/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114544	C C	G G	missense_variant missense_variant	MODERATE	NA18964.hp2 NA19070.hp2 NA18964.hp2 NA19070.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0121 a0003c0012t0004g0122 a0003c0012t0004g0121 a0003c0012t0004g0122	2	294	0.0068	c.171 others(4): Show c.1711C>G	p.Pro others(6): Show p.Pro571Ala	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	1977/9261	1711/3657	571/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114712	A A	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0055 a0010c0015t0055	a0010c0015t0055g0012 a0010c0015t0055g0012	1	294	0.0034	c.187 others(4): Show c.1879A>T	p.Ser others(6): Show p.Ser627Cys	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	2145/9261	1879/3657	627/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114964	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0037 a0011c0018t0037	a0011c0018t0037g0039 a0011c0018t0037g0039	1	294	0.0034	c.213 others(4): Show c.2131G>A	p.Val others(6): Show p.Val711Ile	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	2397/9261	2131/3657	711/1218	chr4	TogoVar

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