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
AFF1_chr4_86930011_87146039	87115206	G G	T T	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0006 a0015c0022t0006	a0015c0022t0006g0087 a0015c0022t0006g0087	1	294	0.0034	c.237 others(4): Show c.2373G>T	p.Arg others(6): Show p.Arg791Ser	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	2639/9261	2373/3657	791/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87125058	G G	A A	missense_variant missense_variant	MODERATE	NA18960.hp2 NA18960.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0004 a0014c0019t0004	a0014c0019t0004g0066 a0014c0019t0004g0066	1	294	0.0034	c.248 others(4): Show c.2488G>A	p.Asp others(6): Show p.Asp830Asn	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	13/21	2754/9261	2488/3657	830/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87125090	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 NA18522.hp1 NA18906.hp2 HG02572.hp2 NA18522.hp1 NA18906.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0021 a0002c0008t0042 a0002c0008t0021 a0002c0008t0042	a0002c0008t0021g0014 a0002c0008t0021g0016 a0002c0008t0042g0015 a0002c0008t0021g0014 a0002c0008t0021g0016 a0002c0008t0042g0015	3	294	0.0102	c.252 others(4): Show c.2520C>G	p.Ile others(6): Show p.Ile840Met	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	13/21	2786/9261	2520/3657	840/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87125101	C C	T T	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0030 a0012c0021t0030	a0012c0021t0030g0231 a0012c0021t0030g0231	1	294	0.0034	c.253 others(4): Show c.2531C>T	p.Ser others(6): Show p.Ser844Leu	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	13/21	2797/9261	2531/3657	844/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87126161	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0061 a0013c0020t0061	a0013c0020t0061g0171 a0013c0020t0061g0171	1	294	0.0034	c.263 others(4): Show c.2636C>T	p.Ser others(6): Show p.Ser879Leu	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	14/21	2902/9261	2636/3657	879/1218	chr4	TogoVar
AFF2_chrX_148495617_149005663	148662197	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0103 a0002c0009t0103	a0002c0009t0103g0050 a0002c0009t0103g0050	1	169	0.0059	c.470 others(3): Show c.470C>T	p.Pro others(6): Show p.Pro157Leu	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/21	951/13748	470/3936	157/1311	chrX	TogoVar
AFF2_chrX_148495617_149005663	148955685	G G	A A	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0011 a0004c0006t0012g0011	1	169	0.0059	c.164 others(4): Show c.1640G>A	p.Gly others(6): Show p.Gly547Asp	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	11/21	2121/13748	1640/3936	547/1311	chrX	TogoVar
AFF3_chr2_99540419_100147590	99560401	T T	C C	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0009 a0005c0011t0009	a0005c0011t0009g0012 a0005c0011t0009g0012	1	100	0.0100	c.315 others(4): Show c.3155A>G	p.Asn others(7): Show p.Asn1052Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	21/25	3489/10070	3155/3681	1052/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99578363	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0074 a0004c0010t0005g0074	1	100	0.0100	c.288 others(4): Show c.2882G>A	p.Arg others(6): Show p.Arg961Lys	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	18/25	3216/10070	2882/3681	961/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99593835	G G	A A	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0032 a0006c0012t0032	a0006c0012t0032g0090 a0006c0012t0032g0090	1	100	0.0100	c.182 others(4): Show c.1826C>T	p.Ala others(6): Show p.Ala609Val	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	2160/10070	1826/3681	609/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99593880	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00738.hp2 HG01106.hp1 others(3): Show HG00438.hp1 HG00738.hp2 HG01106.hp1 HG02523.hp2 HG04115.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0006 a0003c0006t0001 a0003c0006t0003 a0003c0006t0006	a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 others(3): Show a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 a0003c0006t0003g0039 a0003c0006t0003g0069 a0003c0006t0006g0052	6	100	0.0600	c.178 others(4): Show c.1781C>G	p.Thr others(6): Show p.Thr594Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	2115/10070	1781/3681	594/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99594180	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01081.hp1 HG01261.hp2 others(13): Show HG00639.hp1 HG01081.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0013 a0002c0002 a0002c0007 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0018 a0002c0002t0023 a0002c0002t0035 a0002c0007t0001 a0002c0007t0006 a0002c0007t0008 a0002c0013t0019	a0002c0002t0001g0059 a0002c0002t0002g0021 a0002c0002t0002g0028 others(13): Show a0002c0002t0001g0059 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0005g0029 a0002c0002t0011g0040 a0002c0002t0013g0005 a0002c0002t0018g0015 a0002c0002t0023g0054 a0002c0002t0035g0087 a0002c0007t0001g0060 a0002c0007t0006g0081 a0002c0007t0008g0006 a0002c0007t0008g0007 a0002c0013t0019g0014	16	100	0.1600	c.148 others(4): Show c.1481A>G	p.Asn others(6): Show p.Asn494Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	1815/10070	1481/3681	494/1226	chr2	TogoVar
AFF4_chr5_132870395_132968634	132896564	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0078 a0006c0010t0001g0078	1	392	0.0026	c.206 others(4): Show c.2066G>A	p.Arg others(6): Show p.Arg689Gln	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	11/21	2446/9536	2066/3492	689/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132897044	G G	A A	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0367 a0005c0011t0003g0367	1	392	0.0026	c.158 others(4): Show c.1586C>T	p.Pro others(6): Show p.Pro529Leu	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	11/21	1966/9536	1586/3492	529/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132898268	T T	G G	missense_variant missense_variant	MODERATE	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0003 a0004c0012t0003	a0004c0012t0003g0339 a0004c0012t0003g0339	1	392	0.0026	c.135 others(4): Show c.1351A>C	p.Ser others(6): Show p.Ser451Arg	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	10/21	1731/9536	1351/3492	451/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934190	T T	C C	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0064 a0007c0013t0002g0064	1	392	0.0026	c.875 others(3): Show c.875A>G	p.Lys others(6): Show p.Lys292Arg	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1255/9536	875/3492	292/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934325	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0006 a0008c0015t0006	a0008c0015t0006g0326 a0008c0015t0006g0326	1	392	0.0026	c.740 others(3): Show c.740A>G	p.Asn others(6): Show p.Asn247Ser	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1120/9536	740/3492	247/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934511	T T	A A	missense_variant missense_variant	MODERATE	NA19012.hp1 NA20300.hp2 NA19012.hp1 NA20300.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0059 a0003c0008t0002g0066 a0003c0008t0002g0059 a0003c0008t0002g0066	2	392	0.0051	c.554 others(3): Show c.554A>T	p.Gln others(6): Show p.Gln185Leu	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	934/9536	554/3492	185/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934659	T T	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02486.hp2 HG02559.hp2 others(2): Show HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02965.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0016 a0002c0004t0005 a0002c0004t0016	a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 others(2): Show a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 a0002c0004t0016g0202 a0002c0004t0016g0223	5	392	0.0128	c.406 others(3): Show c.406A>C	p.Thr others(6): Show p.Thr136Pro	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	786/9536	406/3492	136/1163	chr5	TogoVar
AFG3L2_chr18_12323944_12382227	12329764	T T	C C	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	2	376	0.0053	c.219 others(4): Show c.2195A>G	p.Glu others(6): Show p.Glu732Gly	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	17/17	2340/3160	2195/2394	732/797	chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12358858	G G	A A	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0106 a0003c0006t0002g0106	1	376	0.0027	c.838 others(3): Show c.838C>T	p.Arg others(6): Show p.Arg280Trp	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	8/17	983/3160	838/2394	280/797	chr18	TogoVar
AFMID_chr17_78182362_78212702	78191027	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp2 HG01069.hp1 others(33): Show HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02071.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG04184.hp1 HG04204.hp2 NA18955.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA19000.hp2 NA19007.hp1 NA19057.hp1 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0039 a0002c0002t0041 a0002c0002t0045 a0006c0008t0001 a0006c0008t0013 a0006c0008t0036	a0002c0002t0001g0124 a0002c0002t0001g0161 a0002c0002t0001g0379 others(33): Show a0002c0002t0001g0124 a0002c0002t0001g0161 a0002c0002t0001g0379 a0002c0002t0002g0033 a0002c0002t0002g0158 a0002c0002t0002g0372 a0002c0002t0003g0383 a0002c0002t0004g0152 a0002c0002t0005g0034 a0002c0002t0005g0375 a0002c0002t0009g0074 a0002c0002t0011g0352 a0002c0002t0011g0373 a0002c0002t0011g0374 a0002c0002t0011g0384 a0002c0002t0011g0386 a0002c0002t0014g0382 a0002c0002t0017g0154 a0002c0002t0017g0155 a0002c0002t0017g0159 a0002c0002t0017g0163 a0002c0002t0022g0153 a0002c0002t0022g0370 a0002c0002t0022g0371 a0002c0002t0023g0112 a0002c0002t0031g0122 a0002c0002t0031g0156 a0002c0002t0032g0125 a0002c0002t0032g0157 a0002c0002t0033g0160 a0002c0002t0039g0387 a0002c0002t0041g0123 a0002c0002t0045g0162 a0006c0008t0001g0354 a0006c0008t0013g0376 a0006c0008t0036g0353	36	446	0.0807	c.121 others(3): Show c.121G>C	p.Ala others(5): Show p.Ala41Pro	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	2/11	130/1686	121/912	41/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78202558	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 NA18957.hp2 NA18995.hp2 others(1): Show HG00423.hp1 NA18957.hp2 NA18995.hp2 NA19063.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0006 a0005c0006t0003 a0005c0006t0006	a0005c0006t0003g0136 a0005c0006t0003g0188 a0005c0006t0006g0134 others(1): Show a0005c0006t0003g0136 a0005c0006t0003g0188 a0005c0006t0006g0134 a0005c0006t0006g0187	4	446	0.0090	c.214 others(3): Show c.214G>A	p.Glu others(5): Show p.Glu72Lys	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	3/11	223/1686	214/912	72/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78202729	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0245 a0009c0009t0003g0245	1	446	0.0022	c.286 others(3): Show c.286G>A	p.Gly others(5): Show p.Gly96Arg	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	4/11	295/1686	286/912	96/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78204870	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0297 a0008c0013t0004g0297	1	446	0.0022	c.437 others(3): Show c.437C>T	p.Ala others(6): Show p.Ala146Val	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	6/11	446/1686	437/912	146/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78204884	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00733.hp1 HG01069.hp1 others(14): Show HG00099.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01993.hp2 HG02602.hp1 HG02735.hp1 HG03490.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0012 a0006c0008 a0003c0003 a0003c0012 a0006c0008	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(8): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0013 a0003c0003t0020 a0003c0003t0027 a0003c0003t0037 a0003c0012t0005 a0006c0008t0001 a0006c0008t0013 a0006c0008t0036	a0003c0003t0001g0246 a0003c0003t0002g0028 a0003c0003t0005g0028 others(14): Show a0003c0003t0001g0246 a0003c0003t0002g0028 a0003c0003t0005g0028 a0003c0003t0005g0212 a0003c0003t0005g0247 a0003c0003t0005g0286 a0003c0003t0013g0262 a0003c0003t0013g0272 a0003c0003t0020g0255 a0003c0003t0020g0256 a0003c0003t0020g0265 a0003c0003t0027g0290 a0003c0003t0037g0273 a0003c0012t0005g0167 a0006c0008t0001g0354 a0006c0008t0013g0376 a0006c0008t0036g0353	17	446	0.0381	c.451 others(3): Show c.451C>T	p.Arg others(6): Show p.Arg151Trp	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	6/11	460/1686	451/912	151/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78205101	A A	G G	missense_variant missense_variant	MODERATE	HG01106.hp2 HG02559.hp2 HG02647.hp1 others(8): Show HG01106.hp2 HG02559.hp2 HG02647.hp1 HG02895.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA20300.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0005 a0004c0004t0002 a0004c0004t0005	a0004c0004t0002g0005 a0004c0004t0002g0147 a0004c0004t0002g0148 others(5): Show a0004c0004t0002g0005 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0233 a0004c0004t0002g0234 a0004c0004t0002g0243 a0004c0004t0002g0351 a0004c0004t0005g0138	11	446	0.0247	c.476 others(3): Show c.476A>G	p.Tyr others(6): Show p.Tyr159Cys	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	7/11	485/1686	476/912	159/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78205671	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0015 a0007c0011t0015	a0007c0011t0015g0377 a0007c0011t0015g0377	1	446	0.0022	c.713 others(3): Show c.713G>A	p.Arg others(6): Show p.Arg238His	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	9/11	722/1686	713/912	238/303	chr17	TogoVar
AFM_chr4_73476745_73509001	73481815	T T	G G	missense_variant missense_variant	MODERATE	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0105 a0008c0006t0001g0117 a0008c0006t0001g0105 a0008c0006t0001g0117	2	368	0.0054	c.40T others(2): Show c.40T>G	p.Phe others(5): Show p.Phe14Val	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	1/15	71/1997	40/1800	14/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73481855	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0147 a0006c0007t0001g0148 a0006c0007t0001g0147 a0006c0007t0001g0148	2	368	0.0054	c.80G others(2): Show c.80G>A	p.Arg others(5): Show p.Arg27Gln	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	1/15	111/1997	80/1800	27/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73485876	G G	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0053 a0007c0009t0001g0053	2	368	0.0054	c.285 others(3): Show c.285G>T	p.Gln others(5): Show p.Gln95His	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	4/15	316/1997	285/1800	95/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73486060	T T	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp1 HG02818.hp1 HG01070.hp1 HG01071.hp1 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0167 a0005c0005t0001g0168 a0005c0005t0001g0169 a0005c0005t0001g0167 a0005c0005t0001g0168 a0005c0005t0001g0169	3	368	0.0082	c.469 others(3): Show c.469T>A	p.Ser others(6): Show p.Ser157Thr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	4/15	500/1997	469/1800	157/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73487082	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02809.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0046 a0004c0004t0001g0158 a0004c0004t0001g0165 a0004c0004t0001g0046 a0004c0004t0001g0158 a0004c0004t0001g0165	4	368	0.0109	c.598 others(3): Show c.598A>T	p.Asn others(6): Show p.Asn200Tyr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	5/15	629/1997	598/1800	200/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73487083	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02809.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0046 a0004c0004t0001g0158 a0004c0004t0001g0165 a0004c0004t0001g0046 a0004c0004t0001g0158 a0004c0004t0001g0165	4	368	0.0109	c.599 others(3): Show c.599A>T	p.Asn others(6): Show p.Asn200Ile	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	5/15	630/1997	599/1800	200/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73487739	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0107 a0009c0010t0001g0107	1	368	0.0027	c.631 others(3): Show c.631C>A	p.Gln others(6): Show p.Gln211Lys	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	6/15	662/1997	631/1800	211/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73488751	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0222 a0010c0016t0001g0222	1	368	0.0027	c.835 others(3): Show c.835C>T	p.Arg others(6): Show p.Arg279Cys	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	7/15	866/1997	835/1800	279/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73492035	G G	C C	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0001 a0014c0011t0001	a0014c0011t0001g0007 a0014c0011t0001g0007	1	368	0.0027	c.100 others(4): Show c.1007G>C	p.Ser others(6): Show p.Ser336Thr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	8/15	1038/1997	1007/1800	336/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73492080	T T	C C	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0001 a0013c0012t0001g0001	1	368	0.0027	c.105 others(4): Show c.1052T>C	p.Phe others(6): Show p.Phe351Ser	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	8/15	1083/1997	1052/1800	351/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73495425	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01123.hp1 HG01433.hp1 others(17): Show HG00140.hp2 HG01123.hp1 HG01433.hp1 HG01516.hp2 HG02027.hp2 HG02056.hp2 HG02145.hp1 HG02647.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp2 NA18942.hp1 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0016 a0002c0002t0001g0024 a0002c0002t0001g0025 others(13): Show a0002c0002t0001g0016 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0015t0001g0069	20	368	0.0544	c.118 others(4): Show c.1184G>A	p.Arg others(6): Show p.Arg395His	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	9/15	1215/1997	1184/1800	395/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73497670	A A	T T	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18970.hp1 NA18974.hp2 others(2): Show NA18947.hp2 NA18970.hp1 NA18974.hp2 NA18991.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0005 others(1): Show a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0031	5	368	0.0136	c.121 others(4): Show c.1210A>T	p.Thr others(6): Show p.Thr404Ser	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	10/15	1241/1997	1210/1800	404/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73499188	T T	A A	missense_variant missense_variant	MODERATE	NA18981.hp2 NA18981.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0029 a0011c0013t0001g0029	1	368	0.0027	c.136 others(4): Show c.1364T>A	p.Val others(6): Show p.Val455Glu	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	11/15	1395/1997	1364/1800	455/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73499229	G G	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0145 a0012c0014t0001g0145	1	368	0.0027	c.140 others(4): Show c.1405G>A	p.Ala others(6): Show p.Ala469Thr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	11/15	1436/1997	1405/1800	469/599	chr4	TogoVar
AFP_chr4_73431221_73461174	73440656	G G	C C	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0065 a0011c0010t0001g0065	1	390	0.0026	c.325 others(3): Show c.325G>C	p.Gly others(6): Show p.Gly109Arg	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	4/15	367/2426	325/1830	109/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73442372	A A	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG01433.hp1 HG00140.hp1 HG01433.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0008 a0006c0009t0002g0008	2	390	0.0051	c.559 others(3): Show c.559A>C	p.Lys others(6): Show p.Lys187Gln	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	5/15	601/2426	559/1830	187/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73443395	C C	A A	missense_variant missense_variant	MODERATE	NA19086.hp1 NA19086.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0021 a0010c0011t0002g0021	1	390	0.0026	c.664 others(3): Show c.664C>A	p.His others(6): Show p.His222Asn	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	6/15	706/2426	664/1830	222/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73445051	C C	G G	missense_variant missense_variant	MODERATE	HG01256.hp1 HG02738.hp2 HG03688.hp1 HG01256.hp1 HG02738.hp2 HG03688.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0012 a0003c0006t0002g0012	3	390	0.0077	c.772 others(3): Show c.772C>G	p.Leu others(6): Show p.Leu258Val	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	7/15	814/2426	772/1830	258/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73445057	C C	G G	missense_variant missense_variant	MODERATE	NA18984.hp2 NA18984.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0007 a0009c0017t0001g0007	1	390	0.0026	c.778 others(3): Show c.778C>G	p.Leu others(6): Show p.Leu260Val	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	7/15	820/2426	778/1830	260/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73449423	A A	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0081 a0008c0015t0002g0081	1	390	0.0026	c.114 others(4): Show c.1147A>C	p.Lys others(6): Show p.Lys383Gln	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	9/15	1189/2426	1147/1830	383/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73450677	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp2 HG03098.hp1 HG03098.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0012 a0004c0007t0002g0107 a0004c0007t0002g0012 a0004c0007t0002g0107	2	390	0.0051	c.135 others(4): Show c.1352C>T	p.Thr others(6): Show p.Thr451Ile	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	11/15	1394/2426	1352/1830	451/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73452612	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0113 a0007c0012t0002g0113	1	390	0.0026	c.164 others(4): Show c.1640C>T	p.Thr others(6): Show p.Thr547Ile	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	12/15	1682/2426	1640/1830	547/609	chr4	TogoVar

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