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
ANGEL1_chr14_76781009_76817882	76803448	C C	T T	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0061 a0008c0011t0001g0061	1	396	0.0025	c.154 others(4): Show c.1541G>A	p.Arg others(6): Show p.Arg514His	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/10	1596/5287	1541/2013	514/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76803460	T T	C C	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0145 a0006c0009t0001g0145	1	396	0.0025	c.152 others(4): Show c.1529A>G	p.Asp others(6): Show p.Asp510Gly	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/10	1584/5287	1529/2013	510/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76806615	A A	G G	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0003 a0011c0010t0003	a0011c0010t0003g0251 a0011c0010t0003g0251	1	396	0.0025	c.118 others(4): Show c.1181T>C	p.Leu others(6): Show p.Leu394Pro	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	5/10	1236/5287	1181/2013	394/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76806649	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG01109.hp1 others(5): Show HG00140.hp2 HG00280.hp2 HG01109.hp1 HG01516.hp1 HG03017.hp1 HG04115.hp1 HG04228.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0005 a0004c0004t0006g0290 a0004c0004t0006g0291 others(1): Show a0004c0004t0006g0005 a0004c0004t0006g0290 a0004c0004t0006g0291 a0004c0004t0006g0292	8	396	0.0202	c.114 others(4): Show c.1147G>C	p.Val others(6): Show p.Val383Leu	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	5/10	1202/5287	1147/2013	383/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76807949	C C	T T	missense_variant missense_variant	MODERATE	NA18957.hp2 NA19000.hp1 NA18957.hp2 NA19000.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0059 a0005c0005t0001g0060 a0005c0005t0001g0059 a0005c0005t0001g0060	2	396	0.0051	c.849 others(3): Show c.849G>A	p.Met others(6): Show p.Met283Ile	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	3/10	904/5287	849/2013	283/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76807968	T T	C C	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0223 a0007c0014t0002g0223	1	396	0.0025	c.830 others(3): Show c.830A>G	p.Tyr others(6): Show p.Tyr277Cys	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	3/10	885/5287	830/2013	277/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76808111	C C	G G	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0145 a0006c0009t0001g0145	1	396	0.0025	c.687 others(3): Show c.687G>C	p.Gln others(6): Show p.Gln229His	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	3/10	742/5287	687/2013	229/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76809287	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01070.hp2 HG01071.hp2 others(12): Show HG00099.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp1 HG01358.hp1 HG01981.hp1 HG02300.hp1 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0020 a0003c0003t0004 a0003c0003t0020	a0003c0003t0004g0010 a0003c0003t0004g0053 a0003c0003t0004g0054 others(10): Show a0003c0003t0004g0010 a0003c0003t0004g0053 a0003c0003t0004g0054 a0003c0003t0004g0055 a0003c0003t0004g0056 a0003c0003t0004g0132 a0003c0003t0004g0133 a0003c0003t0004g0134 a0003c0003t0004g0142 a0003c0003t0004g0146 a0003c0003t0004g0147 a0003c0003t0004g0149 a0003c0003t0020g0057	15	396	0.0379	c.421 others(3): Show c.421G>T	p.Gly others(6): Show p.Gly141Trp	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	2/10	476/5287	421/2013	141/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76809287	C C	G G	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0002 a0012c0007t0002	a0012c0007t0002g0158 a0012c0007t0002g0158	1	396	0.0025	c.421 others(3): Show c.421G>C	p.Gly others(6): Show p.Gly141Arg	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	2/10	476/5287	421/2013	141/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76809467	G G	C C	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0107 a0013c0016t0001g0107	1	396	0.0025	c.241 others(3): Show c.241C>G	p.Leu others(5): Show p.Leu81Val	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	2/10	296/5287	241/2013	81/670	chr14	TogoVar
ANGEL2_chr1_212987182_213020867	212995117	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02559.hp2 HG02896.hp2 others(3): Show HG02257.hp1 HG02559.hp2 HG02896.hp2 HG02965.hp1 HG03579.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0020 a0002c0002t0003g0251 a0002c0002t0003g0255 others(1): Show a0002c0002t0003g0020 a0002c0002t0003g0251 a0002c0002t0003g0255 a0002c0002t0003g0256	6	392	0.0153	c.155 others(4): Show c.1559C>G	p.Thr others(6): Show p.Thr520Ser	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	9/9	1755/4690	1559/1635	520/544	chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213000354	G G	T T	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0078 a0007c0006t0001g0078	1	392	0.0026	c.129 others(4): Show c.1291C>A	p.Gln others(6): Show p.Gln431Lys	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	7/9	1487/4690	1291/1635	431/544	chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213005422	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0120 a0006c0007t0006g0120	1	392	0.0026	c.745 others(3): Show c.745A>G	p.Arg others(6): Show p.Arg249Gly	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	5/9	941/4690	745/1635	249/544	chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213008281	G G	A A	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0204 a0008c0008t0002g0204	1	392	0.0026	c.571 others(3): Show c.571C>T	p.Arg others(6): Show p.Arg191Trp	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	3/9	767/4690	571/1635	191/544	chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213013236	G G	A A	missense_variant missense_variant	MODERATE	NA19087.hp2 NA19087.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0224 a0005c0009t0001g0224	1	392	0.0026	c.242 others(3): Show c.242C>T	p.Pro others(5): Show p.Pro81Leu	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	2/9	438/4690	242/1635	81/544	chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213013249	T T	G G	missense_variant missense_variant	MODERATE	NA18956.hp1 NA19002.hp2 NA19065.hp1 NA18956.hp1 NA19002.hp2 NA19065.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0017 a0003c0004t0005g0017	3	392	0.0077	c.229 others(3): Show c.229A>C	p.Asn others(5): Show p.Asn77His	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	2/9	425/4690	229/1635	77/544	chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213013346	C C	G G	missense_variant missense_variant	MODERATE	HG02809.hp2 HG03540.hp1 HG02809.hp2 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0264 a0004c0005t0004g0265 a0004c0005t0004g0264 a0004c0005t0004g0265	2	392	0.0051	c.132 others(3): Show c.132G>C	p.Arg others(5): Show p.Arg44Ser	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	2/9	328/4690	132/1635	44/544	chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107284736	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0050 a0004c0004t0003g0050	1	292	0.0034	c.115 others(4): Show c.1151G>A	p.Arg others(6): Show p.Arg384Gln	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	7/9	1511/4230	1151/1497	384/498	chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107284777	C C	G G	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0030 a0003c0003t0002g0030	1	292	0.0034	c.111 others(4): Show c.1110G>C	p.Gln others(6): Show p.Gln370His	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	7/9	1470/4230	1110/1497	370/498	chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107321934	G G	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0278 a0002c0002t0016g0278	1	292	0.0034	c.770 others(3): Show c.770C>A	p.Thr others(6): Show p.Thr257Lys	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	4/9	1130/4230	770/1497	257/498	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6514712	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0026 a0006c0027t0026	a0006c0027t0026g0290 a0006c0027t0026g0290	1	336	0.0030	c.994 others(3): Show c.994G>A	p.Val others(6): Show p.Val332Ile	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	6/9	1305/5268	994/1488	332/495	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6519986	C C	G G	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0231 a0007c0033t0001g0231	1	336	0.0030	c.805 others(3): Show c.805G>C	p.Asp others(6): Show p.Asp269His	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	5/9	1116/5268	805/1488	269/495	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6521186	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0012 a0005c0032t0012	a0005c0032t0012g0285 a0005c0032t0012g0285	1	336	0.0030	c.791 others(3): Show c.791C>T	p.Thr others(6): Show p.Thr264Ile	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	4/9	1102/5268	791/1488	264/495	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6521229	C C	G G	missense_variant missense_variant	MODERATE	NA18978.hp1 NA18978.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0076 a0008c0024t0001g0076	1	336	0.0030	c.748 others(3): Show c.748G>C	p.Asp others(6): Show p.Asp250His	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	4/9	1059/5268	748/1488	250/495	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6521273	A A	G G	missense_variant missense_variant	MODERATE	HG00673.hp2 NA19074.hp1 HG00673.hp2 NA19074.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0115 a0002c0018t0004g0215 a0002c0018t0004g0115 a0002c0018t0004g0215	2	336	0.0060	c.704 others(3): Show c.704T>C	p.Val others(6): Show p.Val235Ala	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	4/9	1015/5268	704/1488	235/495	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6527621	G G	C C	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0063 a0004c0028t0063	a0004c0028t0063g0269 a0004c0028t0063g0269	1	336	0.0030	c.500 others(3): Show c.500C>G	p.Thr others(6): Show p.Thr167Arg	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	3/9	811/5268	500/1488	167/495	chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6527649	G G	T T	missense_variant missense_variant	MODERATE	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0009 a0003c0029t0009	a0003c0029t0009g0014 a0003c0029t0009g0014	1	336	0.0030	c.472 others(3): Show c.472C>A	p.Leu others(6): Show p.Leu158Ile	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	3/9	783/5268	472/1488	158/495	chr8	TogoVar
ANGPT4_chr20_864900_921334	872994	G G	A A	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19005.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0002 a0011c0021t0002	a0011c0021t0002g0166 a0011c0021t0002g0166	1	432	0.0023	c.147 others(4): Show c.1478C>T	p.Ala others(6): Show p.Ala493Val	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	9/9	1598/4692	1478/1512	493/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	872995	C C	A A	missense_variant missense_variant	MODERATE	HG02080.hp1 HG02080.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0068 a0010c0022t0001g0068	1	432	0.0023	c.147 others(4): Show c.1477G>T	p.Ala others(6): Show p.Ala493Ser	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	9/9	1597/4692	1477/1512	493/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	874319	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0014 a0009c0020t0014	a0009c0020t0014g0084 a0009c0020t0014g0084	1	432	0.0023	c.131 others(4): Show c.1316A>G	p.His others(6): Show p.His439Arg	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	8/9	1436/4692	1316/1512	439/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	874393	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0014 a0009c0020t0014	a0009c0020t0014g0084 a0009c0020t0014g0084	1	432	0.0023	c.124 others(4): Show c.1242C>A	p.Ser others(6): Show p.Ser414Arg	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	8/9	1362/4692	1242/1512	414/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	878188	T T	G G	missense_variant missense_variant	MODERATE	NA18989.hp1 NA18989.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0176 a0012c0023t0001g0176	1	432	0.0023	c.119 others(4): Show c.1193A>C	p.His others(6): Show p.His398Pro	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	7/9	1313/4692	1193/1512	398/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	878198	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01943.hp1 others(7): Show HG01070.hp1 HG01071.hp2 HG01943.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp2 HG03209.hp1 HG03453.hp1 NA18988.hp2	a0002 a0002	a0002c0004 a0002c0019 a0002c0004 a0002c0019	a0002c0004t0003 a0002c0004t0004 a0002c0019t0002 a0002c0004t0003 a0002c0004t0004 a0002c0019t0002	a0002c0004t0003g0234 a0002c0004t0004g0005 a0002c0004t0004g0067 others(6): Show a0002c0004t0003g0234 a0002c0004t0004g0005 a0002c0004t0004g0067 a0002c0004t0004g0075 a0002c0004t0004g0126 a0002c0004t0004g0287 a0002c0004t0004g0395 a0002c0004t0004g0396 a0002c0019t0002g0398	10	432	0.0232	c.118 others(4): Show c.1183G>A	p.Glu others(6): Show p.Glu395Lys	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	7/9	1303/4692	1183/1512	395/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	881178	G G	A A	missense_variant missense_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0002 a0008c0027t0002	a0008c0027t0002g0119 a0008c0027t0002g0119	1	432	0.0023	c.944 others(3): Show c.944C>T	p.Pro others(6): Show p.Pro315Leu	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	5/9	1064/4692	944/1512	315/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	885318	C C	T T	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0244 a0013c0018t0001g0244	1	432	0.0023	c.595 others(3): Show c.595G>A	p.Glu others(6): Show p.Glu199Lys	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	4/9	715/4692	595/1512	199/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	888390	A A	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0003 a0014c0017t0003	a0014c0017t0003g0394 a0014c0017t0003g0394	1	432	0.0023	c.515 others(3): Show c.515T>G	p.Leu others(6): Show p.Leu172Arg	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	3/9	635/4692	515/1512	172/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	890224	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02965.hp1 HG02970.hp1 HG02145.hp2 HG02965.hp1 HG02970.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0120 a0004c0009t0004g0145 a0004c0009t0004g0362 a0004c0009t0004g0120 a0004c0009t0004g0145 a0004c0009t0004g0362	3	432	0.0069	c.454 others(3): Show c.454A>G	p.Met others(6): Show p.Met152Val	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	2/9	574/4692	454/1512	152/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	890238	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0052 a0007c0016t0002g0052	1	432	0.0023	c.440 others(3): Show c.440G>A	p.Arg others(6): Show p.Arg147His	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	2/9	560/4692	440/1512	147/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	890272	T T	C C	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0020 a0006c0028t0020	a0006c0028t0020g0073 a0006c0028t0020g0073	1	432	0.0023	c.406 others(3): Show c.406A>G	p.Thr others(6): Show p.Thr136Ala	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	2/9	526/4692	406/1512	136/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	915931	T T	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02145.hp1 HG02717.hp2 others(6): Show HG02109.hp2 HG02145.hp1 HG02717.hp2 HG02896.hp2 HG03098.hp1 HG03486.hp2 NA18522.hp2 NA19043.hp2 NA21309.hp1	a0003 a0003	a0003c0010 a0003c0011 a0003c0014 others(1): Show a0003c0010 a0003c0011 a0003c0014 a0003c0029	a0003c0010t0002 a0003c0010t0003 a0003c0010t0010 others(5): Show a0003c0010t0002 a0003c0010t0003 a0003c0010t0010 a0003c0011t0001 a0003c0011t0003 a0003c0014t0001 a0003c0014t0006 a0003c0029t0002	a0003c0010t0002g0405 a0003c0010t0003g0409 a0003c0010t0010g0404 others(6): Show a0003c0010t0002g0405 a0003c0010t0003g0409 a0003c0010t0010g0404 a0003c0011t0001g0407 a0003c0011t0003g0403 a0003c0011t0003g0408 a0003c0014t0001g0406 a0003c0014t0006g0401 a0003c0029t0002g0402	9	432	0.0208	c.284 others(3): Show c.284A>G	p.Gln others(5): Show p.Gln95Arg	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	1/9	404/4692	284/1512	95/503	chr20	TogoVar
ANGPT4_chr20_864900_921334	916147	T T	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0002 a0005c0030t0002	a0005c0030t0002g0412 a0005c0030t0002g0412	1	432	0.0023	c.68A others(2): Show c.68A>T	p.Gln others(5): Show p.Gln23Leu	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	1/9	188/4692	68/1512	23/503	chr20	TogoVar
ANGPTL1_chr1_178844535_178876077	178853748	T T	C C	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18988.hp1 NA18966.hp2 NA18988.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0314 a0002c0006t0001g0315 a0002c0006t0001g0314 a0002c0006t0001g0315	2	424	0.0047	c.863 others(3): Show c.863A>G	p.His others(6): Show p.His288Arg	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	4/6	1336/3543	863/1476	288/491	chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178864977	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0287 a0004c0008t0003g0287	1	424	0.0024	c.800 others(3): Show c.800C>T	p.Pro others(6): Show p.Pro267Leu	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/6	1273/3543	800/1476	267/491	chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178865113	G G	C C	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0245 a0003c0010t0002g0245	1	424	0.0024	c.664 others(3): Show c.664C>G	p.His others(6): Show p.His222Asp	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/6	1137/3543	664/1476	222/491	chr1	TogoVar
ANGPTL2_chr9_127082348_127127635	127107920	G G	A A	missense_variant missense_variant	MODERATE	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0169 a0003c0009t0001g0169	1	372	0.0027	c.812 others(3): Show c.812C>T	p.Pro others(6): Show p.Pro271Leu	ANGPTL2	ENSG00000136859.10	transcript	ENST00000373425.8	protein_coding	2/5	1182/3443	812/1482	271/493	chr9	TogoVar
ANGPTL2_chr9_127082348_127127635	127107975	G G	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0123 a0004c0006t0001g0123	1	372	0.0027	c.757 others(3): Show c.757C>A	p.Pro others(6): Show p.Pro253Thr	ANGPTL2	ENSG00000136859.10	transcript	ENST00000373425.8	protein_coding	2/5	1127/3443	757/1482	253/493	chr9	TogoVar
ANGPTL2_chr9_127082348_127127635	127108265	G G	A A	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0153 a0002c0010t0002g0153	1	372	0.0027	c.467 others(3): Show c.467C>T	p.Ser others(6): Show p.Ser156Phe	ANGPTL2	ENSG00000136859.10	transcript	ENST00000373425.8	protein_coding	2/5	837/3443	467/1482	156/493	chr9	TogoVar
ANGPTL3_chr1_62592520_62611313	62597945	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	1	366	0.0027	c.379 others(3): Show c.379C>T	p.Leu others(6): Show p.Leu127Phe	ANGPTL3	ENSG00000132855.5	transcript	ENST00000371129.4	protein_coding	1/7	426/2926	379/1383	127/460	chr1	TogoVar
ANGPTL3_chr1_62592520_62611313	62598728	A A	T T	missense_variant missense_variant	MODERATE	NA18956.hp2 NA19063.hp1 NA18956.hp2 NA19063.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	2	366	0.0055	c.528 others(3): Show c.528A>T	p.Lys others(6): Show p.Lys176Asn	ANGPTL3	ENSG00000132855.5	transcript	ENST00000371129.4	protein_coding	2/7	575/2926	528/1383	176/460	chr1	TogoVar
ANGPTL3_chr1_62592520_62611313	62601823	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02145.hp1 HG02559.hp2 others(9): Show HG00639.hp1 HG02145.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0036 a0002c0003t0002g0006 a0002c0003t0002g0036	12	366	0.0328	c.776 others(3): Show c.776T>C	p.Met others(6): Show p.Met259Thr	ANGPTL3	ENSG00000132855.5	transcript	ENST00000371129.4	protein_coding	4/7	823/2926	776/1383	259/460	chr1	TogoVar

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