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
ABCD4_chr14_74280269_74307934	74302903	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03098.hp2 HG06807.hp2 HG02630.hp2 HG03098.hp2 HG06807.hp2	a0007 a0012 a0007 a0012	a0007c0007 a0012c0011 a0007c0007 a0012c0011	a0007c0007t0011 a0007c0007t0023 a0012c0011t0002 a0007c0007t0011 a0007c0007t0023 a0012c0011t0002	a0007c0007t0011g0049 a0007c0007t0023g0048 a0012c0011t0002g0047 a0007c0007t0011g0049 a0007c0007t0023g0048 a0012c0011t0002g0047	3	384	0.0078	c.10G others(2): Show c.10G>C	p.Ala others(4): Show p.Ala4Pro	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	1/19	32/3035	10/1821	4/606	chr14	TogoVar
ABCE1_chr4_145093311_145134524	145123031	G G	A A	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	260	0.0039	c.127 others(4): Show c.1274G>A	p.Arg others(6): Show p.Arg425His	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	14/18	1410/3887	1274/1800	425/599	chr4	TogoVar
ABCF1_chr6_30566442_30596522	30578077	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0014 a0006c0014t0001g0014	1	415	0.0024	c.218 others(3): Show c.218A>C	p.Gln others(5): Show p.Gln73Pro	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	4/25	264/3405	218/2538	73/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30578353	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0050 a0011c0008t0001g0050	1	415	0.0024	c.349 others(3): Show c.349G>A	p.Ala others(6): Show p.Ala117Thr	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	5/25	395/3405	349/2538	117/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30580433	A A	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02896.hp2 HG02976.hp1 HG02040.hp2 HG02896.hp2 HG02976.hp1	a0002 a0002	a0002c0007 a0002c0013 a0002c0007 a0002c0013	a0002c0007t0002 a0002c0013t0002 a0002c0007t0002 a0002c0013t0002	a0002c0007t0002g0086 a0002c0007t0002g0087 a0002c0013t0002g0088 a0002c0007t0002g0086 a0002c0007t0002g0087 a0002c0013t0002g0088	3	415	0.0072	c.592 others(3): Show c.592A>G	p.Asn others(6): Show p.Asn198Asp	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	8/25	638/3405	592/2538	198/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30584276	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG03471.hp2 HG03540.hp2 others(1): Show HG02109.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0011c0008 a0003c0004 a0011c0008	a0003c0004t0001 a0011c0008t0001 a0003c0004t0001 a0011c0008t0001	a0003c0004t0001g0051 a0003c0004t0001g0204 a0011c0008t0001g0050 a0003c0004t0001g0051 a0003c0004t0001g0204 a0011c0008t0001g0050	4	415	0.0096	c.118 others(4): Show c.1187G>A	p.Arg others(6): Show p.Arg396Gln	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	13/25	1233/3405	1187/2538	396/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30586201	A A	G G	missense_variant missense_variant	MODERATE	NA18993.hp2 NA18993.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0225 a0010c0012t0001g0225	1	415	0.0024	c.178 others(4): Show c.1781A>G	p.Glu others(6): Show p.Glu594Gly	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	18/25	1827/3405	1781/2538	594/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30586216	C C	T T	missense_variant missense_variant	MODERATE	HG03516.hp1 NA18906.hp1 HG03516.hp1 NA18906.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0049 a0004c0006t0001g0049	2	415	0.0048	c.179 others(4): Show c.1796C>T	p.Pro others(6): Show p.Pro599Leu	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	18/25	1842/3405	1796/2538	599/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30586491	C C	G G	missense_variant missense_variant	MODERATE	NA18988.hp2 NA18988.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0114 a0007c0011t0001g0114	1	415	0.0024	c.190 others(4): Show c.1903C>G	p.Gln others(6): Show p.Gln635Glu	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	19/25	1949/3405	1903/2538	635/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30589700	A A	G G	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0119 a0009c0010t0001g0119	1	415	0.0024	c.204 others(4): Show c.2044A>G	p.Met others(6): Show p.Met682Val	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	21/25	2090/3405	2044/2538	682/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30590625	A A	C C	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0139 a0008c0009t0001g0139	1	415	0.0024	c.246 others(4): Show c.2462A>C	p.Asp others(6): Show p.Asp821Ala	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	25/25	2508/3405	2462/2538	821/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30590648	C C	T T	missense_variant missense_variant	MODERATE	NA18951.hp2 NA19055.hp2 NA18951.hp2 NA19055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0026 a0005c0005t0001g0026	2	415	0.0048	c.248 others(4): Show c.2485C>T	p.Arg others(6): Show p.Arg829Trp	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	25/25	2531/3405	2485/2538	829/845	chr6	TogoVar
ABCF2_chr7_151206484_151232205	151223729	T T	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02451.hp2 HG02486.hp1 others(4): Show HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0011 a0002c0007t0002g0011	7	390	0.0180	c.671 others(3): Show c.671A>T	p.Lys others(6): Show p.Lys224Met	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding	5/15	756/4527	671/1872	224/623	chr7	TogoVar
ABCF3_chr3_184181199_184199005	184187757	C C	T T	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0002 a0011c0015t0001g0002	1	416	0.0024	c.442 others(3): Show c.442C>T	p.Pro others(6): Show p.Pro148Ser	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	5/21	451/2446	442/2130	148/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184188184	C C	T T	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0001 a0006c0012t0001g0001	1	416	0.0024	c.613 others(3): Show c.613C>T	p.Arg others(6): Show p.Arg205Cys	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	7/21	622/2446	613/2130	205/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184191020	C C	G G	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0004 a0009c0011t0001g0004	1	416	0.0024	c.141 others(4): Show c.1413C>G	p.Asp others(6): Show p.Asp471Glu	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	15/21	1422/2446	1413/2130	471/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184191194	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(8): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01515.hp1 HG01517.hp2 HG02148.hp2 HG02698.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	11	416	0.0264	c.150 others(4): Show c.1508C>T	p.Pro others(6): Show p.Pro503Leu	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/21	1517/2446	1508/2130	503/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184191215	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01261.hp2 HG02055.hp1 others(7): Show HG01257.hp1 HG01261.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02976.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	10	416	0.0240	c.152 others(4): Show c.1529G>A	p.Arg others(6): Show p.Arg510His	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/21	1538/2446	1529/2130	510/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184192816	T T	C C	missense_variant missense_variant	MODERATE	HG02080.hp2 NA18612.hp2 NA18981.hp2 others(1): Show HG02080.hp2 NA18612.hp2 NA18981.hp2 NA18998.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	4	416	0.0096	c.167 others(4): Show c.1670T>C	p.Ile others(6): Show p.Ile557Thr	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	18/21	1679/2446	1670/2130	557/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193123	G G	T T	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0031 a0010c0013t0001g0031	1	416	0.0024	c.177 others(4): Show c.1772G>T	p.Arg others(6): Show p.Arg591Leu	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1781/2446	1772/2130	591/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193152	G G	A A	missense_variant missense_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0001 a0008c0008t0001g0001	1	416	0.0024	c.180 others(4): Show c.1801G>A	p.Gly others(6): Show p.Gly601Arg	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1810/2446	1801/2130	601/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193157	A A	T T	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0031 a0010c0013t0001g0031	1	416	0.0024	c.180 others(4): Show c.1806A>T	p.Glu others(6): Show p.Glu602Asp	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1815/2446	1806/2130	602/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193570	C C	T T	missense_variant missense_variant	MODERATE	NA18967.hp1 NA18983.hp2 NA19084.hp2 NA18967.hp1 NA18983.hp2 NA19084.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0002 a0005c0006t0001g0002	3	416	0.0072	c.200 others(4): Show c.2002C>T	p.Arg others(6): Show p.Arg668Cys	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	21/21	2011/2446	2002/2130	668/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193628	G G	A A	missense_variant missense_variant	MODERATE	NA18942.hp2 NA18942.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0001 a0007c0009t0001g0001	1	416	0.0024	c.206 others(4): Show c.2060G>A	p.Arg others(6): Show p.Arg687His	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	21/21	2069/2446	2060/2130	687/709	chr3	TogoVar
ABCG1_chr21_42214140_42302244	42225697	G G	T T	missense_variant missense_variant	MODERATE	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0099 a0002c0013t0001g0099	1	354	0.0028	c.69G others(2): Show c.69G>T	p.Met others(5): Show p.Met23Ile	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/15	192/2976	69/2001	23/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42225779	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0258 a0004c0009t0003g0258	1	354	0.0028	c.151 others(3): Show c.151G>A	p.Gly others(5): Show p.Gly51Arg	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/15	274/2976	151/2001	51/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42287931	G G	A A	missense_variant missense_variant	MODERATE	NA19067.hp2 NA19067.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0249 a0003c0010t0001g0249	1	354	0.0028	c.101 others(4): Show c.1016G>A	p.Arg others(6): Show p.Arg339Gln	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	9/15	1139/2976	1016/2001	339/666	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88092380	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0260 a0009c0010t0001g0260	1	350	0.0029	c.182 others(4): Show c.1822T>C	p.Cys others(6): Show p.Cys608Arg	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	16/16	2095/4206	1822/1968	608/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88097518	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0005 a0005c0007t0001g0005	2	350	0.0057	c.158 others(4): Show c.1582G>A	p.Ala others(6): Show p.Ala528Thr	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	13/16	1855/4206	1582/1968	528/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88114978	T T	G G	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0190 a0008c0011t0001g0190	1	350	0.0029	c.922 others(3): Show c.922A>C	p.Asn others(6): Show p.Asn308His	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	8/16	1195/4206	922/1968	308/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88118207	G G	C C	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0031 a0007c0012t0001g0031	1	350	0.0029	c.743 others(3): Show c.743C>G	p.Ser others(6): Show p.Ser248Cys	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/16	1016/4206	743/1968	248/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88131137	A A	G G	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0260 a0009c0010t0001g0260	1	350	0.0029	c.455 others(3): Show c.455T>C	p.Met others(6): Show p.Met152Thr	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	5/16	728/4206	455/1968	152/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88131147	C C	G G	missense_variant missense_variant	MODERATE	NA18975.hp1 NA18975.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0186 a0010c0009t0001g0186	1	350	0.0029	c.445 others(3): Show c.445G>C	p.Ala others(6): Show p.Ala149Pro	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	5/16	718/4206	445/1968	149/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88131171	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(58): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01255.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02602.hp2 HG02723.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA19003.hp1 NA19005.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0008 a0003c0003 a0006c0008	a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0006c0008t0001	a0003c0003t0001g0004 a0003c0003t0001g0117 a0003c0003t0001g0178 others(56): Show a0003c0003t0001g0004 a0003c0003t0001g0117 a0003c0003t0001g0178 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0247 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0315 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0003g0006 a0003c0003t0003g0183 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0262 a0003c0003t0003g0310 a0003c0003t0003g0313 a0003c0003t0004g0333 a0003c0003t0004g0334 a0006c0008t0001g0050	61	350	0.1743	c.421 others(3): Show c.421C>A	p.Gln others(6): Show p.Gln141Lys	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	5/16	694/4206	421/1968	141/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88139962	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00597.hp2 HG01071.hp2 others(68): Show HG00423.hp2 HG00597.hp2 HG01071.hp2 HG01109.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02723.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03471.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18965.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19090.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0004 a0006c0008 a0002c0002 a0002c0004 a0006c0008	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0002c0002t0012 a0002c0004t0001 a0002c0004t0007 a0002c0004t0015 a0006c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0035 others(66): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0171 a0002c0002t0001g0202 a0002c0002t0001g0242 a0002c0002t0001g0266 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0086 a0002c0002t0002g0187 a0002c0002t0002g0199 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0267 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0004g0332 a0002c0002t0011g0046 a0002c0002t0012g0273 a0002c0004t0001g0012 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0208 a0002c0004t0001g0248 a0002c0004t0001g0323 a0002c0004t0007g0342 a0002c0004t0007g0344 a0002c0004t0015g0330 a0006c0008t0001g0050	71	350	0.2029	c.34G others(2): Show c.34G>A	p.Val others(5): Show p.Val12Met	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/16	307/4206	34/1968	12/655	chr4	TogoVar
ABCG4_chr11_119144052_119167653	119150009	C C	T T	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03710.hp1 HG03017.hp1 HG03710.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0004 a0004c0007t0002g0004	2	388	0.0052	c.44C others(2): Show c.44C>T	p.Pro others(5): Show p.Pro15Leu	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	2/15	368/3812	44/1941	15/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119150018	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0010 a0006c0008t0002g0010	1	388	0.0026	c.53T others(2): Show c.53T>C	p.Val others(5): Show p.Val18Ala	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	2/15	377/3812	53/1941	18/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119150185	C C	T T	missense_variant missense_variant	MODERATE	NA18975.hp1 NA18984.hp1 NA18975.hp1 NA18984.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0075 a0005c0006t0001g0076 a0005c0006t0001g0075 a0005c0006t0001g0076	2	388	0.0052	c.220 others(3): Show c.220C>T	p.Pro others(5): Show p.Pro74Ser	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	2/15	544/3812	220/1941	74/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156639	G G	A A	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0002 a0008c0010t0002g0002	1	388	0.0026	c.886 others(3): Show c.886G>A	p.Gly others(6): Show p.Gly296Ser	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	8/15	1210/3812	886/1941	296/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156981	C C	G G	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01123.hp2 HG01243.hp1 others(23): Show HG01099.hp1 HG01123.hp2 HG01243.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0003 a0006c0008 a0002c0002 a0002c0003 a0006c0008	a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 a0006c0008t0002	a0002c0002t0002g0010 a0002c0002t0002g0021 a0002c0002t0002g0034 others(11): Show a0002c0002t0002g0010 a0002c0002t0002g0021 a0002c0002t0002g0034 a0002c0002t0002g0045 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0061 a0002c0002t0002g0082 a0002c0002t0002g0088 a0002c0002t0003g0006 a0002c0002t0003g0060 a0002c0003t0003g0006 a0002c0003t0003g0102 a0006c0008t0002g0010	26	388	0.0670	c.103 others(4): Show c.1035C>G	p.Asn others(6): Show p.Asn345Lys	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/15	1359/3812	1035/1941	345/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119157001	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp1 HG02258.hp2 HG02723.hp1 others(5): Show HG00741.hp1 HG02258.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp2 HG03516.hp1 NA20129.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0003c0013 a0007c0014 a0003c0004 a0003c0013 a0007c0014	a0003c0004t0002 a0003c0004t0006 a0003c0013t0002 others(1): Show a0003c0004t0002 a0003c0004t0006 a0003c0013t0002 a0007c0014t0002	a0003c0004t0002g0007 a0003c0004t0006g0057 a0003c0013t0002g0007 others(1): Show a0003c0004t0002g0007 a0003c0004t0006g0057 a0003c0013t0002g0007 a0007c0014t0002g0007	8	388	0.0206	c.105 others(4): Show c.1055C>T	p.Pro others(6): Show p.Pro352Leu	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/15	1379/3812	1055/1941	352/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119160293	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0007 a0007c0014t0002g0007	1	388	0.0026	c.150 others(4): Show c.1504C>T	p.Arg others(6): Show p.Arg502Cys	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	13/15	1828/3812	1504/1941	502/646	chr11	TogoVar
ABCG5_chr2_43807472_43843839	43813262	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00639.hp2 HG00642.hp2 others(82): Show HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18952.hp1 NA18962.hp1 NA18964.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0008 a0010 a0011 a0013	a0002c0002 a0002c0009 a0002c0015 others(6): Show a0002c0002 a0002c0009 a0002c0015 a0004c0004 a0005c0005 a0008c0008 a0010c0017 a0011c0012 a0013c0014	a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 others(9): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0009t0002 a0002c0015t0002 a0004c0004t0002 a0005c0005t0002 a0005c0005t0008 a0008c0008t0002 a0010c0017t0002 a0011c0012t0002 a0013c0014t0002	a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0009 others(71): Show a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0089 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0147 a0002c0002t0002g0150 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0184 a0002c0002t0002g0190 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0002g0214 a0002c0002t0002g0218 a0002c0002t0002g0223 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0007g0124 a0002c0002t0008g0148 a0002c0009t0002g0035 a0002c0015t0002g0058 a0004c0004t0002g0252 a0004c0004t0002g0257 a0004c0004t0002g0260 a0004c0004t0002g0266 a0004c0004t0002g0267 a0004c0004t0002g0268 a0005c0005t0002g0036 a0005c0005t0002g0037 a0005c0005t0008g0038 a0005c0005t0008g0044 a0005c0005t0008g0045 a0008c0008t0002g0034 a0010c0017t0002g0255 a0011c0012t0002g0116 a0013c0014t0002g0168	85	330	0.2576	c.181 others(4): Show c.1810C>G	p.Gln others(6): Show p.Gln604Glu	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	13/13	1970/2760	1810/1956	604/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43819994	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0230 a0012c0011t0001g0230	1	330	0.0030	c.157 others(4): Show c.1570G>A	p.Val others(6): Show p.Val524Ile	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	11/13	1730/2760	1570/1956	524/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43820014	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0009 a0011 a0009 a0011	a0009c0018 a0011c0012 a0009c0018 a0011c0012	a0009c0018t0004 a0011c0012t0002 a0009c0018t0004 a0011c0012t0002	a0009c0018t0004g0272 a0011c0012t0002g0116 a0009c0018t0004g0272 a0011c0012t0002g0116	2	330	0.0061	c.155 others(4): Show c.1550C>G	p.Thr others(6): Show p.Thr517Ser	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	11/13	1710/2760	1550/1956	517/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43820036	G G	T T	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0255 a0010c0017t0002g0255	1	330	0.0030	c.152 others(4): Show c.1528C>A	p.His others(6): Show p.His510Asn	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	11/13	1688/2760	1528/1956	510/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43824009	T T	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp2 HG02809.hp1 others(2): Show HG01884.hp1 HG01884.hp2 HG02809.hp1 HG02976.hp2 HG03453.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0008 a0005c0005t0002 a0005c0005t0008	a0005c0005t0002g0036 a0005c0005t0002g0037 a0005c0005t0008g0038 others(2): Show a0005c0005t0002g0036 a0005c0005t0002g0037 a0005c0005t0008g0038 a0005c0005t0008g0044 a0005c0005t0008g0045	5	330	0.0152	c.122 others(4): Show c.1228A>C	p.Asn others(6): Show p.Asn410His	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	9/13	1388/2760	1228/1956	410/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43825008	T T	C C	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02145.hp1 HG02258.hp2 others(3): Show HG01243.hp1 HG02145.hp1 HG02258.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp2	a0006 a0013 a0006 a0013	a0006c0006 a0013c0014 a0006c0006 a0013c0014	a0006c0006t0001 a0006c0006t0006 a0013c0014t0002 a0006c0006t0001 a0006c0006t0006 a0013c0014t0002	a0006c0006t0001g0166 a0006c0006t0006g0161 a0006c0006t0006g0162 others(3): Show a0006c0006t0001g0166 a0006c0006t0006g0161 a0006c0006t0006g0162 a0006c0006t0006g0163 a0006c0006t0006g0164 a0013c0014t0002g0168	6	330	0.0182	c.785 others(3): Show c.785A>G	p.Lys others(6): Show p.Lys262Arg	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	7/13	945/2760	785/1956	262/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43837951	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00741.hp2 HG01943.hp2 others(16): Show HG00438.hp1 HG00741.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02818.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03834.hp1 HG04184.hp2 NA18968.hp1 NA19030.hp2 NA20129.hp1	a0003 a0004 a0010 a0003 a0004 a0010	a0003c0003 a0004c0004 a0010c0017 a0003c0003 a0004c0004 a0010c0017	a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 others(2): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0004c0004t0002 a0010c0017t0002	a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0256 others(15): Show a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0003g0265 a0003c0003t0006g0031 a0004c0004t0002g0252 a0004c0004t0002g0257 a0004c0004t0002g0260 a0004c0004t0002g0266 a0004c0004t0002g0267 a0004c0004t0002g0268 a0010c0017t0002g0255	19	330	0.0576	c.148 others(3): Show c.148C>T	p.Arg others(5): Show p.Arg50Cys	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	2/13	308/2760	148/1956	50/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43838541	C C	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02922.hp1 NA19043.hp2 HG02818.hp1 HG02922.hp1 NA19043.hp2	a0007 a0009 a0007 a0009	a0007c0007 a0009c0018 a0007c0007 a0009c0018	a0007c0007t0001 a0007c0007t0003 a0009c0018t0004 a0007c0007t0001 a0007c0007t0003 a0009c0018t0004	a0007c0007t0001g0270 a0007c0007t0003g0271 a0009c0018t0004g0272 a0007c0007t0001g0270 a0007c0007t0003g0271 a0009c0018t0004g0272	3	330	0.0091	c.139 others(3): Show c.139G>T	p.Val others(5): Show p.Val47Phe	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	1/13	299/2760	139/1956	47/651	chr2	TogoVar

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