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
ABCG1_chr21_42214140_42302244	42294610	C C	T T	synonymous_variant synonymous_variant	LOW	NA19003.hp2 NA19004.hp1 NA19070.hp2 NA19003.hp2 NA19004.hp1 NA19070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127 a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127	3	354	0.0085	c.172 others(4): Show c.1722C>T	p.Phe others(6): Show p.Phe574Phe	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/15	1845/2976	1722/2001	574/666	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42296233	C C	T T	synonymous_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0276 a0001c0012t0004g0276	1	354	0.0028	c.184 others(4): Show c.1842C>T	p.Asp others(6): Show p.Asp614Asp	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	15/15	1965/2976	1842/2001	614/666	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88113399	C C	T T	synonymous_variant synonymous_variant	LOW	HG01071.hp2 HG01169.hp1 HG01433.hp1 others(6): Show HG01071.hp2 HG01169.hp1 HG01433.hp1 HG01943.hp2 HG01952.hp2 HG02293.hp1 HG02300.hp2 NA18981.hp2 NA19079.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0007 a0002c0004t0015 a0002c0004t0001 a0002c0004t0007 a0002c0004t0015	a0002c0004t0001g0012 a0002c0004t0001g0206 a0002c0004t0001g0207 others(6): Show a0002c0004t0001g0012 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0208 a0002c0004t0001g0248 a0002c0004t0001g0323 a0002c0004t0007g0342 a0002c0004t0007g0344 a0002c0004t0015g0330	9	350	0.0257	c.109 others(4): Show c.1098G>A	p.Glu others(6): Show p.Glu366Glu	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	9/16	1371/4206	1098/1968	366/655	chr4	TogoVar
ABCG2_chr4_88085269_88163639	88131812	G G	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG02976.hp1 HG03139.hp2 others(1): Show HG02622.hp1 HG02976.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0079 a0001c0005t0001g0099 a0001c0005t0001g0100 others(1): Show a0001c0005t0001g0079 a0001c0005t0001g0099 a0001c0005t0001g0100 a0001c0005t0001g0149	4	350	0.0114	c.369 others(3): Show c.369C>T	p.Tyr others(6): Show p.Tyr123Tyr	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	4/16	642/4206	369/1968	123/655	chr4	TogoVar
ABCG4_chr11_119144052_119167653	119154569	G G	A A	synonymous_variant synonymous_variant	LOW	HG01099.hp1 HG02257.hp1 HG02486.hp1 others(5): Show HG01099.hp1 HG02257.hp1 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0102 a0002c0003t0003g0006 a0002c0003t0003g0102	8	388	0.0206	c.534 others(3): Show c.534G>A	p.Lys others(6): Show p.Lys178Lys	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	5/15	858/3812	534/1941	178/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119154817	G G	A A	synonymous_variant synonymous_variant	LOW	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0001 a0001c0009t0001g0001	1	388	0.0026	c.588 others(3): Show c.588G>A	p.Thr others(6): Show p.Thr196Thr	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	6/15	912/3812	588/1941	196/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119154862	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0084 a0001c0016t0007g0084	1	388	0.0026	c.633 others(3): Show c.633C>T	p.Ile others(6): Show p.Ile211Ile	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	6/15	957/3812	633/1941	211/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156440	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0084 a0001c0016t0007g0084	1	388	0.0026	c.798 others(3): Show c.798G>A	p.Glu others(6): Show p.Glu266Glu	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	7/15	1122/3812	798/1941	266/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156599	A A	G G	synonymous_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0074 a0001c0015t0001g0074	1	388	0.0026	c.846 others(3): Show c.846A>G	p.Lys others(6): Show p.Lys282Lys	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	8/15	1170/3812	846/1941	282/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156921	C C	T T	synonymous_variant synonymous_variant	LOW	HG00642.hp2 HG01074.hp1 HG02559.hp2 others(3): Show HG00642.hp2 HG01074.hp1 HG02559.hp2 HG02647.hp1 HG03540.hp1 NA18953.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0005 a0001c0005t0015 a0001c0005t0001 a0001c0005t0005 a0001c0005t0015	a0001c0005t0001g0031 a0001c0005t0005g0027 a0001c0005t0015g0101 a0001c0005t0001g0031 a0001c0005t0005g0027 a0001c0005t0015g0101	6	388	0.0155	c.975 others(3): Show c.975C>T	p.Phe others(6): Show p.Phe325Phe	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/15	1299/3812	975/1941	325/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156948	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0011 a0001c0016 a0001c0011 a0001c0016	a0001c0011t0001 a0001c0016t0007 a0001c0011t0001 a0001c0016t0007	a0001c0011t0001g0085 a0001c0016t0007g0084 a0001c0011t0001g0085 a0001c0016t0007g0084	2	388	0.0052	c.100 others(4): Show c.1002T>C	p.Ala others(6): Show p.Ala334Ala	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/15	1326/3812	1002/1941	334/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119156981	C C	T T	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG02258.hp2 HG02723.hp1 others(4): Show HG00741.hp1 HG02258.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp2 HG03516.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0014 a0003c0004 a0007c0014	a0003c0004t0002 a0003c0004t0006 a0007c0014t0002 a0003c0004t0002 a0003c0004t0006 a0007c0014t0002	a0003c0004t0002g0007 a0003c0004t0006g0057 a0007c0014t0002g0007 a0003c0004t0002g0007 a0003c0004t0006g0057 a0007c0014t0002g0007	7	388	0.0180	c.103 others(4): Show c.1035C>T	p.Asn others(6): Show p.Asn345Asn	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/15	1359/3812	1035/1941	345/646	chr11	TogoVar
ABCG4_chr11_119144052_119167653	119160959	G G	A A	synonymous_variant synonymous_variant	LOW	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0019 a0001c0012t0001g0019	1	388	0.0026	c.179 others(4): Show c.1794G>A	p.Pro others(6): Show p.Pro598Pro	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	15/15	2118/3812	1794/1941	598/646	chr11	TogoVar
ABCG5_chr2_43807472_43843839	43822835	G G	A A	synonymous_variant synonymous_variant	LOW	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0211 a0001c0013t0001g0211	1	330	0.0030	c.142 others(4): Show c.1425C>T	p.Ser others(6): Show p.Ser475Ser	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	10/13	1585/2760	1425/1956	475/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43826460	G G	A A	synonymous_variant synonymous_variant	LOW	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0058 a0002c0015t0002g0058	1	330	0.0030	c.696 others(3): Show c.696C>T	p.Val others(6): Show p.Val232Val	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	6/13	856/2760	696/1956	232/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43828011	G G	A A	synonymous_variant synonymous_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0231 a0001c0016t0001g0231	1	330	0.0030	c.606 others(3): Show c.606C>T	p.Ser others(6): Show p.Ser202Ser	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	5/13	766/2760	606/1956	202/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43832010	C C	T T	synonymous_variant synonymous_variant	LOW	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0197 a0001c0010t0004g0197	1	330	0.0030	c.339 others(3): Show c.339G>A	p.Val others(6): Show p.Val113Val	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	3/13	499/2760	339/1956	113/651	chr2	TogoVar
ABCG5_chr2_43807472_43843839	43838581	C C	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0035 a0002c0009t0002g0035	1	330	0.0030	c.99G others(2): Show c.99G>A	p.Pro others(5): Show p.Pro33Pro	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	1/13	259/2760	99/1956	33/651	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43839104	C C	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp2 HG02897.hp1 HG03195.hp2 others(3): Show HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03516.hp1 HG06807.hp1 NA20300.hp1	a0008 a0018 a0008 a0018	a0008c0015 a0008c0016 a0008c0018 others(1): Show a0008c0015 a0008c0016 a0008c0018 a0018c0019	a0008c0015t0012 a0008c0016t0108 a0008c0016t0109 others(2): Show a0008c0015t0012 a0008c0016t0108 a0008c0016t0109 a0008c0018t0002 a0018c0019t0122	a0008c0015t0012g0017 a0008c0016t0108g0206 a0008c0016t0109g0207 others(2): Show a0008c0015t0012g0017 a0008c0016t0108g0206 a0008c0016t0109g0207 a0008c0018t0002g0176 a0018c0019t0122g0215	6	318	0.0189	c.51C others(2): Show c.51C>A	p.Pro others(5): Show p.Pro17Pro	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	1/13	134/7180	51/2022	17/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43851714	G G	A A	synonymous_variant synonymous_variant	LOW	HG00438.hp1 HG00741.hp2 HG01943.hp1 others(14): Show HG00438.hp1 HG00741.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp2 HG02818.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp1 NA20129.hp2	a0003 a0006 a0010 a0003 a0006 a0010	a0003c0021 a0003c0022 a0006c0005 others(1): Show a0003c0021 a0003c0022 a0006c0005 a0010c0013	a0003c0021t0015 a0003c0022t0013 a0006c0005t0002 others(8): Show a0003c0021t0015 a0003c0022t0013 a0006c0005t0002 a0006c0005t0003 a0006c0005t0027 a0006c0005t0045 a0006c0005t0097 a0006c0005t0118 a0010c0013t0006 a0010c0013t0017 a0010c0013t0121	a0003c0021t0015g0030 a0003c0022t0013g0261 a0006c0005t0002g0245 others(13): Show a0003c0021t0015g0030 a0003c0022t0013g0261 a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0003g0023 a0006c0005t0003g0218 a0006c0005t0003g0219 a0006c0005t0003g0244 a0006c0005t0003g0259 a0006c0005t0027g0220 a0006c0005t0045g0243 a0006c0005t0097g0246 a0006c0005t0118g0221 a0010c0013t0006g0168 a0010c0013t0017g0167 a0010c0013t0121g0183	17	318	0.0535	c.453 others(3): Show c.453G>A	p.Val others(6): Show p.Val151Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	4/13	536/7180	453/2022	151/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852467	G G	A A	synonymous_variant synonymous_variant	LOW	HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0023 a0003c0010t0123 a0003c0010t0023 a0003c0010t0123	a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 others(1): Show a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 a0003c0010t0123g0038	4	318	0.0126	c.675 others(3): Show c.675G>A	p.Val others(6): Show p.Val225Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	5/13	758/7180	675/2022	225/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852774	C C	T T	synonymous_variant synonymous_variant	LOW	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0095 a0002c0026t0095	a0002c0026t0095g0192 a0002c0026t0095g0192	1	318	0.0031	c.870 others(3): Show c.870C>T	p.Thr others(6): Show p.Thr290Thr	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/13	953/7180	870/2022	290/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43873940	C C	T T	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG03130.hp1 HG06807.hp2 others(1): Show HG02647.hp2 HG03130.hp1 HG06807.hp2 NA19030.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0012 a0003c0011t0100 a0003c0011t0012 a0003c0011t0100	a0003c0011t0012g0001 a0003c0011t0012g0061 a0003c0011t0100g0001 a0003c0011t0012g0001 a0003c0011t0012g0061 a0003c0011t0100g0001	4	318	0.0126	c.136 others(4): Show c.1365C>T	p.Ile others(6): Show p.Ile455Ile	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	9/13	1448/7180	1365/2022	455/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43873961	C C	T T	synonymous_variant synonymous_variant	LOW	HG03017.hp2 HG03017.hp2	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0051 a0012c0030t0051	a0012c0030t0051g0078 a0012c0030t0051g0078	1	318	0.0031	c.138 others(4): Show c.1386C>T	p.Asn others(6): Show p.Asn462Asn	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	9/13	1469/7180	1386/2022	462/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43875226	A A	G G	synonymous_variant synonymous_variant	LOW	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0117 a0002c0024t0117	a0002c0024t0117g0250 a0002c0024t0117g0250	1	318	0.0031	c.156 others(4): Show c.1569A>G	p.Pro others(6): Show p.Pro523Pro	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	11/13	1652/7180	1569/2022	523/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43875313	G G	A A	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG02559.hp2	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0049 a0011c0031t0049	a0011c0031t0049g0025 a0011c0031t0049g0025	1	318	0.0031	c.165 others(4): Show c.1656G>A	p.Leu others(6): Show p.Leu552Leu	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	11/13	1739/7180	1656/2022	552/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43875352	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00642.hp1 HG00738.hp2 others(42): Show HG00323.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG03704.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18959.hp1 NA18969.hp2 NA18972.hp2 NA19085.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0012 a0017	a0001c0008 a0002c0004 a0003c0014 others(5): Show a0001c0008 a0002c0004 a0003c0014 a0003c0022 a0007c0020 a0008c0016 a0012c0030 a0017c0028	a0001c0008t0008 a0001c0008t0014 a0001c0008t0031 others(21): Show a0001c0008t0008 a0001c0008t0014 a0001c0008t0031 a0001c0008t0054 a0001c0008t0058 a0001c0008t0079 a0002c0004t0008 a0002c0004t0011 a0002c0004t0013 a0002c0004t0041 a0002c0004t0042 a0002c0004t0084 a0002c0004t0085 a0002c0004t0088 a0002c0004t0091 a0003c0014t0047 a0003c0014t0086 a0003c0014t0087 a0003c0022t0013 a0007c0020t0066 a0008c0016t0108 a0008c0016t0109 a0012c0030t0051 a0017c0028t0047	a0001c0008t0008g0274 a0001c0008t0014g0069 a0001c0008t0014g0071 others(41): Show a0001c0008t0008g0274 a0001c0008t0014g0069 a0001c0008t0014g0071 a0001c0008t0014g0072 a0001c0008t0014g0144 a0001c0008t0031g0152 a0001c0008t0054g0141 a0001c0008t0058g0068 a0001c0008t0079g0073 a0002c0004t0008g0180 a0002c0004t0008g0181 a0002c0004t0008g0182 a0002c0004t0008g0213 a0002c0004t0008g0265 a0002c0004t0008g0271 a0002c0004t0008g0272 a0002c0004t0011g0042 a0002c0004t0011g0185 a0002c0004t0011g0187 a0002c0004t0011g0188 a0002c0004t0011g0190 a0002c0004t0011g0225 a0002c0004t0011g0262 a0002c0004t0013g0018 a0002c0004t0013g0179 a0002c0004t0013g0211 a0002c0004t0013g0212 a0002c0004t0013g0258 a0002c0004t0041g0020 a0002c0004t0042g0228 a0002c0004t0042g0247 a0002c0004t0084g0226 a0002c0004t0085g0018 a0002c0004t0088g0227 a0002c0004t0091g0257 a0003c0014t0047g0216 a0003c0014t0086g0276 a0003c0014t0087g0288 a0003c0022t0013g0261 a0007c0020t0066g0026 a0008c0016t0108g0206 a0008c0016t0109g0207 a0012c0030t0051g0078 a0017c0028t0047g0291	45	318	0.1415	c.169 others(4): Show c.1695C>T	p.Ala others(6): Show p.Ala565Ala	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	11/13	1778/7180	1695/2022	565/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43875373	C C	T T	synonymous_variant synonymous_variant	LOW	HG06807.hp1 NA20300.hp1 HG06807.hp1 NA20300.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0012 a0008c0015t0012	a0008c0015t0012g0017 a0008c0015t0012g0017	2	318	0.0063	c.171 others(4): Show c.1716C>T	p.Leu others(6): Show p.Leu572Leu	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	11/13	1799/7180	1716/2022	572/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43877586	C C	T T	synonymous_variant synonymous_variant	LOW	HG00642.hp2 HG01099.hp2 HG00642.hp2 HG01099.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0015 a0003c0017t0015	a0003c0017t0015g0014 a0003c0017t0015g0014	2	318	0.0063	c.178 others(4): Show c.1782C>T	p.Ser others(6): Show p.Ser594Ser	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	12/13	1865/7180	1782/2022	594/673	chr2	TogoVar
ABHD10_chr3_111974026_111998368	111981893	T T	C C	synonymous_variant synonymous_variant	LOW	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0058 a0001c0005t0001g0058	1	424	0.0024	c.252 others(3): Show c.252T>C	p.Tyr others(5): Show p.Tyr84Tyr	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	2/5	288/2604	252/921	84/306	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111986345	T T	C C	synonymous_variant synonymous_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0009 a0001c0006t0003g0009	1	424	0.0024	c.408 others(3): Show c.408T>C	p.Ser others(6): Show p.Ser136Ser	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	3/5	444/2604	408/921	136/306	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111991488	T T	C C	synonymous_variant synonymous_variant	LOW	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0001 a0001c0008t0001g0001	1	424	0.0024	c.688 others(3): Show c.688T>C	p.Leu others(6): Show p.Leu230Leu	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	5/5	724/2604	688/921	230/306	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111991685	T T	C C	synonymous_variant synonymous_variant	LOW	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	2	424	0.0047	c.885 others(3): Show c.885T>C	p.Asp others(6): Show p.Asp295Asp	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	5/5	921/2604	885/921	295/306	chr3	TogoVar
ABHD11_chr7_73731094_73743802	73737314	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(250): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0005g0019 a0001c0004t0001g0009 a0002c0003t0001g0004 a0004c0006t0001g0023	253	428	0.5911	c.513 others(3): Show c.513T>C	p.Tyr others(6): Show p.Tyr171Tyr	ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	4/6	545/1418	513/921	171/306	chr7	TogoVar
ABHD11_chr7_73731094_73743802	73738433	G G	A A	synonymous_variant synonymous_variant	LOW	HG00438.hp2 NA18747.hp1 NA18940.hp2 others(1): Show HG00438.hp2 NA18747.hp1 NA18940.hp2 NA18985.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	4	428	0.0094	c.156 others(3): Show c.156C>T	p.Asp others(5): Show p.Asp52Asp	ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	2/6	188/1418	156/921	52/306	chr7	TogoVar
ABHD12B_chr14_50867053_50909970	50885848	A A	G G	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG02717.hp1 HG02976.hp1 others(3): Show HG02451.hp1 HG02717.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0013 a0004c0009 a0001c0013 a0004c0009	a0001c0013t0003 a0004c0009t0001 a0004c0009t0003 others(2): Show a0001c0013t0003 a0004c0009t0001 a0004c0009t0003 a0004c0009t0009 a0004c0009t0015	a0001c0013t0003g0035 a0001c0013t0003g0036 a0004c0009t0001g0289 others(3): Show a0001c0013t0003g0035 a0001c0013t0003g0036 a0004c0009t0001g0289 a0004c0009t0003g0168 a0004c0009t0009g0165 a0004c0009t0015g0177	6	376	0.0160	c.615 others(3): Show c.615A>G	p.Arg others(6): Show p.Arg205Arg	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	7/13	737/1815	615/1089	205/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50885890	T T	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(45): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01346.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18984.hp1 NA18994.hp1 NA18999.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19090.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0006 a0001c0011 a0002c0004 others(2): Show a0001c0006 a0001c0011 a0002c0004 a0003c0012 a0010c0016	a0001c0006t0001 a0001c0006t0003 a0001c0006t0013 others(8): Show a0001c0006t0001 a0001c0006t0003 a0001c0006t0013 a0001c0011t0004 a0001c0011t0007 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0002c0004t0010 a0003c0012t0001 a0010c0016t0002	a0001c0006t0001g0059 a0001c0006t0001g0073 a0001c0006t0001g0092 others(43): Show a0001c0006t0001g0059 a0001c0006t0001g0073 a0001c0006t0001g0092 a0001c0006t0001g0129 a0001c0006t0001g0136 a0001c0006t0001g0166 a0001c0006t0001g0176 a0001c0006t0001g0218 a0001c0006t0001g0219 a0001c0006t0001g0241 a0001c0006t0001g0268 a0001c0006t0001g0278 a0001c0006t0001g0284 a0001c0006t0001g0295 a0001c0006t0003g0198 a0001c0006t0013g0028 a0001c0011t0004g0088 a0001c0011t0007g0114 a0002c0004t0002g0008 a0002c0004t0002g0015 a0002c0004t0002g0060 a0002c0004t0002g0089 a0002c0004t0002g0090 a0002c0004t0002g0091 a0002c0004t0002g0123 a0002c0004t0002g0128 a0002c0004t0002g0147 a0002c0004t0002g0204 a0002c0004t0002g0225 a0002c0004t0002g0240 a0002c0004t0002g0269 a0002c0004t0002g0270 a0002c0004t0002g0279 a0002c0004t0002g0282 a0002c0004t0002g0294 a0002c0004t0002g0336 a0002c0004t0002g0351 a0002c0004t0002g0354 a0002c0004t0005g0072 a0002c0004t0006g0023 a0002c0004t0006g0169 a0002c0004t0006g0228 a0002c0004t0010g0205 a0003c0012t0001g0042 a0003c0012t0001g0131 a0010c0016t0002g0266	48	376	0.1277	c.657 others(3): Show c.657T>C	p.Gly others(6): Show p.Gly219Gly	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	7/13	779/1815	657/1089	219/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50904363	A A	C C	synonymous_variant synonymous_variant	LOW	HG00609.hp2 HG01884.hp2 HG01981.hp1 others(20): Show HG00609.hp2 HG01884.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02300.hp2 HG02735.hp2 HG03471.hp1 HG03669.hp2 HG03927.hp2 NA18942.hp2 NA18944.hp2 NA18979.hp1 NA18989.hp1 NA18990.hp1 NA19007.hp1 NA19057.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0004 a0001c0005t0007 a0001c0005t0008 others(2): Show a0001c0005t0004 a0001c0005t0007 a0001c0005t0008 a0001c0011t0004 a0001c0011t0007	a0001c0005t0004g0017 a0001c0005t0004g0026 a0001c0005t0004g0126 others(18): Show a0001c0005t0004g0017 a0001c0005t0004g0026 a0001c0005t0004g0126 a0001c0005t0004g0132 a0001c0005t0004g0137 a0001c0005t0004g0159 a0001c0005t0004g0252 a0001c0005t0004g0261 a0001c0005t0004g0264 a0001c0005t0004g0312 a0001c0005t0004g0328 a0001c0005t0004g0333 a0001c0005t0004g0341 a0001c0005t0004g0343 a0001c0005t0004g0347 a0001c0005t0004g0352 a0001c0005t0007g0005 a0001c0005t0008g0212 a0001c0005t0008g0215 a0001c0011t0004g0088 a0001c0011t0007g0114	23	376	0.0612	c.108 others(4): Show c.1086A>C	p.Ser others(6): Show p.Ser362Ser	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	13/13	1208/1815	1086/1089	362/362	chr14	TogoVar
ABHD12_chr20_25295214_25395835	25300866	C C	T T	synonymous_variant synonymous_variant	LOW	HG03491.hp2 HG03492.hp1 HG04115.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0004g0279 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0004g0279	3	316	0.0095	c.117 others(4): Show c.1176G>A	p.Ser others(6): Show p.Ser392Ser	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	13/13	1308/1960	1176/1197	392/398	chr20	TogoVar
ABHD12_chr20_25295214_25395835	25302235	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp2 NA19043.hp1 HG02145.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0293 a0001c0005t0004g0296 a0001c0005t0004g0293 a0001c0005t0004g0296	2	316	0.0063	c.114 others(4): Show c.1141C>T	p.Leu others(6): Show p.Leu381Leu	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	12/13	1273/1960	1141/1197	381/398	chr20	TogoVar
ABHD12_chr20_25295214_25395835	25302308	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(171): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0004t0004 a0001c0005t0004 a0004c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(170): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0276 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0291 a0001c0001t0005g0001 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0009g0304 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0010g0290 a0001c0001t0010g0292 a0001c0001t0010g0294 a0001c0001t0010g0295 a0001c0001t0012g0115 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0004g0279 a0001c0005t0004g0293 a0001c0005t0004g0296 a0004c0009t0001g0020	174	316	0.5506	c.106 others(4): Show c.1068T>C	p.Asp others(6): Show p.Asp356Asp	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	12/13	1200/1960	1068/1197	356/398	chr20	TogoVar
ABHD12_chr20_25295214_25395835	25307996	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(81): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02083.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18962.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0003c0007 a0001c0002 a0002c0006 a0003c0007	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0002c0006t0002 a0003c0007t0002	a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 others(81): Show a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0172 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0223 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0200 a0001c0002t0003g0204 a0001c0002t0003g0208 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0007g0155 a0001c0002t0007g0170 a0001c0002t0007g0173 a0001c0002t0007g0187 a0001c0002t0007g0196 a0001c0002t0007g0205 a0001c0002t0011g0301 a0002c0006t0002g0174 a0002c0006t0002g0193 a0003c0007t0002g0191	84	316	0.2658	c.837 others(3): Show c.837C>T	p.Arg others(6): Show p.Arg279Arg	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	9/13	969/1960	837/1197	279/398	chr20	TogoVar
ABHD13_chr13_108213392_108239243	108229407	A A	T T	synonymous_variant synonymous_variant	LOW	NA18946.hp2 NA18953.hp2 NA19005.hp2 NA18946.hp2 NA18953.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	3	390	0.0077	c.189 others(3): Show c.189A>T	p.Val others(5): Show p.Val63Val	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	2/2	477/5313	189/1014	63/337	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108230031	T T	C C	synonymous_variant synonymous_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	390	0.0026	c.813 others(3): Show c.813T>C	p.Ile others(6): Show p.Ile271Ile	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	2/2	1101/5313	813/1014	271/337	chr13	TogoVar
ABHD14A_chr3_51970064_51986196	51977909	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG02109.hp2 HG02630.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02630.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	7	344	0.0204	c.108 others(3): Show c.108C>T	p.Ala others(5): Show p.Ala36Ala	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2/5	180/1066	108/816	36/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51978304	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00642.hp2 HG01261.hp1 others(1): Show HG00099.hp2 HG00642.hp2 HG01261.hp1 HG02004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0038 a0001c0005t0001g0002 a0001c0005t0001g0038	4	344	0.0116	c.327 others(3): Show c.327G>A	p.Thr others(6): Show p.Thr109Thr	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3/5	399/1066	327/816	109/271	chr3	TogoVar
ABHD15_chr17_29555547_29572037	29562651	A A	G G	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp2 HG02976.hp2 others(3): Show HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0001 a0001c0005t0001 a0001c0009t0001	a0001c0005t0001g0018 a0001c0005t0001g0082 a0001c0009t0001g0054 a0001c0005t0001g0018 a0001c0005t0001g0082 a0001c0009t0001g0054	6	418	0.0144	c.131 others(4): Show c.1317T>C	p.Arg others(6): Show p.Arg439Arg	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	2/2	1388/3492	1317/1407	439/468	chr17	TogoVar
ABHD15_chr17_29555547_29572037	29562945	C C	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(114): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18950.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA19084.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0009 a0002c0004 others(1): Show a0001c0002 a0001c0009 a0002c0004 a0003c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0009t0001 a0002c0004t0001 a0002c0004t0002 a0003c0012t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0011 others(37): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0112 a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0003g0028 a0001c0002t0003g0052 a0001c0002t0009g0095 a0001c0009t0001g0054 a0002c0004t0001g0023 a0002c0004t0001g0053 a0002c0004t0001g0064 a0002c0004t0001g0080 a0002c0004t0001g0099 a0002c0004t0002g0041 a0002c0004t0002g0057 a0002c0004t0002g0072 a0002c0004t0002g0079 a0002c0004t0002g0086 a0003c0012t0001g0115	117	418	0.2799	c.102 others(4): Show c.1023G>C	p.Pro others(6): Show p.Pro341Pro	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	2/2	1094/3492	1023/1407	341/468	chr17	TogoVar
ABHD16A_chr6_31681955_31708324	31687528	T T	A A	synonymous_variant synonymous_variant	LOW	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0073 a0001c0009t0004g0073	1	417	0.0024	c.156 others(4): Show c.1563A>T	p.Ala others(6): Show p.Ala521Ala	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	19/20	1606/1977	1563/1677	521/558	chr6	TogoVar
ABHD16A_chr6_31681955_31708324	31687661	G G	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00642.hp2 HG00733.hp1 others(30): Show HG00323.hp2 HG00642.hp2 HG00733.hp1 HG01257.hp1 HG01981.hp1 HG02040.hp1 HG02080.hp1 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18948.hp1 NA19066.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0025 a0001c0003t0002g0026 others(10): Show a0001c0003t0002g0005 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0041 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0121 a0001c0003t0002g0162	33	417	0.0791	c.152 others(4): Show c.1527C>T	p.Pro others(6): Show p.Pro509Pro	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	18/20	1570/1977	1527/1677	509/558	chr6	TogoVar

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