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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ABCC10_chr6_43422541_43455427	43446297	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0128 a0010c0011t0002g0128	1	342	0.0029	c.339 others(4): Show c.3395G>A	p.Arg others(7): Show p.Arg1132Gln	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	16/22	3623/5043	3395/4479	1132/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43446435	T T	C C	missense_variant missense_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0007 a0009c0018t0001g0007	1	342	0.0029	c.353 others(4): Show c.3533T>C	p.Leu others(7): Show p.Leu1178Pro	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	16/22	3761/5043	3533/4479	1178/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43447691	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02630.hp2 HG02723.hp1 others(4): Show HG01891.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp2 HG03041.hp1 HG03471.hp1 HG06807.hp1	a0004 a0012 a0004 a0012	a0004c0005 a0012c0010 a0004c0005 a0012c0010	a0004c0005t0003 a0012c0010t0003 a0004c0005t0003 a0012c0010t0003	a0004c0005t0003g0027 a0004c0005t0003g0028 a0004c0005t0003g0124 others(2): Show a0004c0005t0003g0027 a0004c0005t0003g0028 a0004c0005t0003g0124 a0004c0005t0003g0135 a0012c0010t0003g0136	7	342	0.0205	c.371 others(4): Show c.3713C>T	p.Thr others(7): Show p.Thr1238Ile	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	18/22	3941/5043	3713/4479	1238/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43448891	G G	T T	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0002 a0008c0013t0001g0002	1	342	0.0029	c.397 others(4): Show c.3970G>T	p.Ala others(7): Show p.Ala1324Ser	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	19/22	4198/5043	3970/4479	1324/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450015	A A	C C	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.440 others(4): Show c.4403A>C	p.Asn others(7): Show p.Asn1468Thr	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4631/5043	4403/4479	1468/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450018	A A	T T	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.440 others(4): Show c.4406A>T	p.Gln others(7): Show p.Gln1469Leu	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4634/5043	4406/4479	1469/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450066	T T	C C	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.445 others(4): Show c.4454T>C	p.Val others(7): Show p.Val1485Ala	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4682/5043	4454/4479	1485/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450069	C C	A A	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.445 others(4): Show c.4457C>A	p.Pro others(7): Show p.Pro1486His	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4685/5043	4457/4479	1486/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450071	G G	T T	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.445 others(4): Show c.4459G>T	p.Ala others(7): Show p.Ala1487Ser	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4687/5043	4459/4479	1487/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450074	T T	C C	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.446 others(4): Show c.4462T>C	p.Ser others(7): Show p.Ser1488Pro	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4690/5043	4462/4479	1488/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450078	T T	C C	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.446 others(4): Show c.4466T>C	p.Leu others(7): Show p.Leu1489Pro	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4694/5043	4466/4479	1489/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450083	G G	C C	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.447 others(4): Show c.4471G>C	p.Gly others(7): Show p.Gly1491Arg	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4699/5043	4471/4479	1491/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450084	G G	T T	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	c.447 others(4): Show c.4472G>T	p.Gly others(7): Show p.Gly1491Val	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4700/5043	4472/4479	1491/1492	chr6	TogoVar
ABCC11_chr16_48160773_48252539	48167521	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00741.hp1 HG01070.hp1 others(51): Show HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20752.hp1	a0003 a0006 a0007 others(9): Show a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017	a0003c0006 a0003c0018 a0003c0023 others(13): Show a0003c0006 a0003c0018 a0003c0023 a0003c0029 a0006c0005 a0007c0008 a0008c0007 a0009c0010 a0010c0012 a0011c0011 a0012c0015 a0013c0014 a0014c0016 a0016c0035 a0016c0038 a0017c0022	a0003c0006t0004 a0003c0018t0002 a0003c0018t0018 others(15): Show a0003c0006t0004 a0003c0018t0002 a0003c0018t0018 a0003c0023t0004 a0003c0029t0015 a0006c0005t0005 a0007c0008t0003 a0008c0007t0006 a0009c0010t0008 a0010c0012t0007 a0011c0011t0002 a0012c0015t0002 a0012c0015t0003 a0013c0014t0002 a0014c0016t0002 a0016c0035t0002 a0016c0038t0016 a0017c0022t0011	a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(46): Show a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 a0003c0018t0002g0010 a0003c0018t0018g0132 a0003c0023t0004g0032 a0003c0029t0015g0019 a0006c0005t0005g0001 a0006c0005t0005g0148 a0006c0005t0005g0149 a0006c0005t0005g0150 a0006c0005t0005g0151 a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 a0007c0008t0003g0138 a0007c0008t0003g0139 a0008c0007t0006g0142 a0008c0007t0006g0143 a0008c0007t0006g0144 a0008c0007t0006g0145 a0008c0007t0006g0146 a0008c0007t0006g0147 a0009c0010t0008g0024 a0009c0010t0008g0025 a0009c0010t0008g0035 a0009c0010t0008g0036 a0010c0012t0007g0020 a0010c0012t0007g0021 a0010c0012t0007g0022 a0010c0012t0007g0023 a0011c0011t0002g0005 a0011c0011t0002g0124 a0011c0011t0002g0125 a0012c0015t0002g0080 a0012c0015t0003g0134 a0012c0015t0003g0135 a0013c0014t0002g0002 a0013c0014t0002g0110 a0014c0016t0002g0067 a0014c0016t0002g0077 a0014c0016t0002g0078 a0016c0035t0002g0123 a0016c0038t0016g0058 a0017c0022t0011g0014 a0017c0022t0011g0015	54	158	0.3418	c.403 others(4): Show c.4031A>G	p.His others(7): Show p.His1344Arg	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	29/30	4275/5894	4031/4149	1344/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48170166	T T	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02965.hp2 HG02970.hp2 others(1): Show HG01891.hp1 HG02965.hp2 HG02970.hp2 HG03486.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0007 a0010c0012t0007	a0010c0012t0007g0020 a0010c0012t0007g0021 a0010c0012t0007g0022 others(1): Show a0010c0012t0007g0020 a0010c0012t0007g0021 a0010c0012t0007g0022 a0010c0012t0007g0023	4	158	0.0253	c.383 others(4): Show c.3830A>T	p.Asn others(7): Show p.Asn1277Ile	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	28/30	4074/5894	3830/4149	1277/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48170167	T T	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00741.hp1 HG01070.hp1 others(13): Show HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG02109.hp1 HG02486.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03492.hp2 HG06807.hp2	a0006 a0011 a0014 others(1): Show a0006 a0011 a0014 a0016	a0006c0005 a0011c0011 a0014c0016 others(2): Show a0006c0005 a0011c0011 a0014c0016 a0016c0035 a0016c0038	a0006c0005t0005 a0011c0011t0002 a0014c0016t0002 others(2): Show a0006c0005t0005 a0011c0011t0002 a0014c0016t0002 a0016c0035t0002 a0016c0038t0016	a0006c0005t0005g0001 a0006c0005t0005g0148 a0006c0005t0005g0149 others(10): Show a0006c0005t0005g0001 a0006c0005t0005g0148 a0006c0005t0005g0149 a0006c0005t0005g0150 a0006c0005t0005g0151 a0011c0011t0002g0005 a0011c0011t0002g0124 a0011c0011t0002g0125 a0014c0016t0002g0067 a0014c0016t0002g0077 a0014c0016t0002g0078 a0016c0035t0002g0123 a0016c0038t0016g0058	16	158	0.1013	c.382 others(4): Show c.3829A>T	p.Asn others(7): Show p.Asn1277Tyr	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	28/30	4073/5894	3829/4149	1277/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48170932	T T	A A	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0001 a0019c0036t0001	a0019c0036t0001g0040 a0019c0036t0001g0040	1	158	0.0063	c.373 others(4): Show c.3734A>T	p.Gln others(7): Show p.Gln1245Leu	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	27/30	3978/5894	3734/4149	1245/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48175267	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02145.hp1 HG03195.hp2 others(1): Show HG01109.hp2 HG02145.hp1 HG03195.hp2 HG03225.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0008 a0009c0010t0008	a0009c0010t0008g0024 a0009c0010t0008g0025 a0009c0010t0008g0035 others(1): Show a0009c0010t0008g0024 a0009c0010t0008g0025 a0009c0010t0008g0035 a0009c0010t0008g0036	4	158	0.0253	c.368 others(4): Show c.3689G>A	p.Gly others(7): Show p.Gly1230Glu	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	26/30	3933/5894	3689/4149	1230/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48187040	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02258.hp1 HG02486.hp2 others(3): Show HG01891.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG03098.hp1 HG03130.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0006 a0008c0007t0006	a0008c0007t0006g0142 a0008c0007t0006g0143 a0008c0007t0006g0144 others(3): Show a0008c0007t0006g0142 a0008c0007t0006g0143 a0008c0007t0006g0144 a0008c0007t0006g0145 a0008c0007t0006g0146 a0008c0007t0006g0147	6	158	0.0380	c.298 others(4): Show c.2984G>A	p.Arg others(6): Show p.Arg995Gln	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	22/30	3228/5894	2984/4149	995/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48187408	C C	T T	missense_variant missense_variant	MODERATE	HG02040.hp1 HG02040.hp1	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0001 a0021c0034t0001	a0021c0034t0001g0039 a0021c0034t0001g0039	1	158	0.0063	c.272 others(4): Show c.2726G>A	p.Ser others(6): Show p.Ser909Asn	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	21/30	2970/5894	2726/4149	909/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48198043	T T	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02109.hp2 HG02258.hp1 others(5): Show HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG03098.hp1 HG03130.hp2	a0008 a0017 a0008 a0017	a0008c0007 a0017c0022 a0008c0007 a0017c0022	a0008c0007t0006 a0017c0022t0011 a0008c0007t0006 a0017c0022t0011	a0008c0007t0006g0142 a0008c0007t0006g0143 a0008c0007t0006g0144 others(5): Show a0008c0007t0006g0142 a0008c0007t0006g0143 a0008c0007t0006g0144 a0008c0007t0006g0145 a0008c0007t0006g0146 a0008c0007t0006g0147 a0017c0022t0011g0014 a0017c0022t0011g0015	8	158	0.0506	c.224 others(4): Show c.2242A>G	p.Ile others(6): Show p.Ile748Val	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	17/30	2486/5894	2242/4149	748/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48198154	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02622.hp1 HG02723.hp1 HG01496.hp2 HG02622.hp1 HG02723.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0002 a0012c0015t0003 a0012c0015t0002 a0012c0015t0003	a0012c0015t0002g0080 a0012c0015t0003g0134 a0012c0015t0003g0135 a0012c0015t0002g0080 a0012c0015t0003g0134 a0012c0015t0003g0135	3	158	0.0190	c.220 others(4): Show c.2204A>G	p.Lys others(6): Show p.Lys735Arg	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	16/30	2448/5894	2204/4149	735/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48200299	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02622.hp1 HG02723.hp1 HG01496.hp2 HG02622.hp1 HG02723.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0002 a0012c0015t0003 a0012c0015t0002 a0012c0015t0003	a0012c0015t0002g0080 a0012c0015t0003g0134 a0012c0015t0003g0135 a0012c0015t0002g0080 a0012c0015t0003g0134 a0012c0015t0003g0135	3	158	0.0190	c.205 others(4): Show c.2059G>A	p.Val others(6): Show p.Val687Ile	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	15/30	2303/5894	2059/4149	687/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48200416	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG01258.hp1 HG01978.hp1 others(7): Show HG00558.hp1 HG01258.hp1 HG01978.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02293.hp1 NA18983.hp2 NA20129.hp2 NA20905.hp1	a0005 a0020 a0022 a0005 a0020 a0022	a0005c0004 a0020c0033 a0022c0032 a0005c0004 a0020c0033 a0022c0032	a0005c0004t0001 a0020c0033t0001 a0022c0032t0001 a0005c0004t0001 a0020c0033t0001 a0022c0032t0001	a0005c0004t0001g0004 a0005c0004t0001g0098 a0005c0004t0001g0099 others(6): Show a0005c0004t0001g0004 a0005c0004t0001g0098 a0005c0004t0001g0099 a0005c0004t0001g0101 a0005c0004t0001g0102 a0005c0004t0001g0107 a0005c0004t0001g0119 a0020c0033t0001g0117 a0022c0032t0001g0100	10	158	0.0633	c.194 others(4): Show c.1942G>A	p.Val others(6): Show p.Val648Ile	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	15/30	2186/5894	1942/4149	648/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48200470	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0030 a0018c0025t0001g0030	1	158	0.0063	c.188 others(4): Show c.1888C>T	p.Arg others(6): Show p.Arg630Trp	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	15/30	2132/5894	1888/4149	630/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48208468	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00741.hp1 HG01070.hp1 others(4): Show HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG03492.hp2 HG06807.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0001 a0006c0005t0005g0148 a0006c0005t0005g0149 others(2): Show a0006c0005t0005g0001 a0006c0005t0005g0148 a0006c0005t0005g0149 a0006c0005t0005g0150 a0006c0005t0005g0151	7	158	0.0443	c.163 others(4): Show c.1637C>T	p.Thr others(6): Show p.Thr546Met	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	12/30	1881/5894	1637/4149	546/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48211085	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01884.hp2 HG02622.hp1 others(6): Show HG01496.hp2 HG01884.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02976.hp2 HG03139.hp1 NA20129.hp1	a0007 a0012 a0007 a0012	a0007c0008 a0012c0015 a0007c0008 a0012c0015	a0007c0008t0003 a0012c0015t0002 a0012c0015t0003 a0007c0008t0003 a0012c0015t0002 a0012c0015t0003	a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 others(5): Show a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 a0007c0008t0003g0138 a0007c0008t0003g0139 a0012c0015t0002g0080 a0012c0015t0003g0134 a0012c0015t0003g0135	9	158	0.0570	c.147 others(4): Show c.1471G>A	p.Val others(6): Show p.Val491Ile	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	11/30	1715/5894	1471/4149	491/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48211091	C C	T T	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0022 a0022	a0022c0032 a0022c0032	a0022c0032t0001 a0022c0032t0001	a0022c0032t0001g0100 a0022c0032t0001g0100	1	158	0.0063	c.146 others(4): Show c.1465G>A	p.Gly others(6): Show p.Gly489Arg	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	11/30	1709/5894	1465/4149	489/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48216115	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01099.hp2 HG01106.hp1 HG01109.hp2 others(32): Show HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20752.hp1	a0003 a0004 a0009 others(4): Show a0003 a0004 a0009 a0010 a0011 a0014 a0018	a0003c0006 a0003c0018 a0003c0023 others(10): Show a0003c0006 a0003c0018 a0003c0023 a0003c0029 a0004c0009 a0004c0017 a0004c0027 a0004c0028 a0009c0010 a0010c0012 a0011c0011 a0014c0016 a0018c0025	a0003c0006t0004 a0003c0018t0002 a0003c0018t0018 others(12): Show a0003c0006t0004 a0003c0018t0002 a0003c0018t0018 a0003c0023t0004 a0003c0029t0015 a0004c0009t0001 a0004c0009t0010 a0004c0017t0001 a0004c0027t0001 a0004c0028t0012 a0009c0010t0008 a0010c0012t0007 a0011c0011t0002 a0014c0016t0002 a0018c0025t0001	a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(31): Show a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 a0003c0018t0002g0010 a0003c0018t0018g0132 a0003c0023t0004g0032 a0003c0029t0015g0019 a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 a0004c0009t0010g0127 a0004c0009t0010g0130 a0004c0017t0001g0029 a0004c0017t0001g0031 a0004c0027t0001g0034 a0004c0028t0012g0131 a0009c0010t0008g0024 a0009c0010t0008g0025 a0009c0010t0008g0035 a0009c0010t0008g0036 a0010c0012t0007g0020 a0010c0012t0007g0021 a0010c0012t0007g0022 a0010c0012t0007g0023 a0011c0011t0002g0005 a0011c0011t0002g0124 a0011c0011t0002g0125 a0014c0016t0002g0067 a0014c0016t0002g0077 a0014c0016t0002g0078 a0018c0025t0001g0030	35	158	0.2215	c.950 others(3): Show c.950C>A	p.Ala others(6): Show p.Ala317Glu	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	7/30	1194/5894	950/4149	317/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48224287	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG01071.hp1 others(27): Show HG00438.hp2 HG00558.hp1 HG01071.hp1 HG01123.hp2 HG01258.hp1 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02698.hp1 HG02738.hp1 HG03688.hp1 HG03704.hp2 HG04115.hp1 NA18983.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0020 others(2): Show a0002 a0005 a0020 a0021 a0022	a0002c0002 a0002c0013 a0002c0019 others(5): Show a0002c0002 a0002c0013 a0002c0019 a0002c0031 a0005c0004 a0020c0033 a0021c0034 a0022c0032	a0002c0002t0001 a0002c0002t0009 a0002c0013t0001 others(7): Show a0002c0002t0001 a0002c0002t0009 a0002c0013t0001 a0002c0019t0001 a0002c0019t0009 a0002c0031t0001 a0005c0004t0001 a0020c0033t0001 a0021c0034t0001 a0022c0032t0001	a0002c0002t0001g0003 a0002c0002t0001g0038 a0002c0002t0001g0090 others(25): Show a0002c0002t0001g0003 a0002c0002t0001g0038 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0009g0009 a0002c0013t0001g0043 a0002c0013t0001g0092 a0002c0013t0001g0108 a0002c0019t0001g0096 a0002c0019t0009g0008 a0002c0031t0001g0091 a0005c0004t0001g0004 a0005c0004t0001g0098 a0005c0004t0001g0099 a0005c0004t0001g0101 a0005c0004t0001g0102 a0005c0004t0001g0107 a0005c0004t0001g0119 a0020c0033t0001g0117 a0021c0034t0001g0039 a0022c0032t0001g0100	30	158	0.1899	c.538 others(3): Show c.538G>A	p.Gly others(6): Show p.Gly180Arg	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	5/30	782/5894	538/4149	180/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48230441	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02647.hp2 HG02723.hp2 others(3): Show HG01884.hp2 HG02647.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp1 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 others(2): Show a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 a0007c0008t0003g0138 a0007c0008t0003g0139	6	158	0.0380	c.232 others(3): Show c.232C>T	p.Pro others(5): Show p.Pro78Ser	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	3/30	476/5894	232/4149	78/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48231858	C C	T T	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0001 a0023c0030t0001	a0023c0030t0001g0112 a0023c0030t0001g0112	1	158	0.0063	c.64G others(2): Show c.64G>A	p.Asp others(5): Show p.Asp22Asn	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	2/30	308/5894	64/4149	22/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48231866	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01106.hp1 HG01109.hp2 others(31): Show HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20752.hp1	a0003 a0004 a0009 others(4): Show a0003 a0004 a0009 a0010 a0011 a0015 a0018	a0003c0006 a0003c0018 a0003c0023 others(11): Show a0003c0006 a0003c0018 a0003c0023 a0003c0029 a0004c0009 a0004c0017 a0004c0027 a0004c0028 a0009c0010 a0010c0012 a0011c0011 a0015c0024 a0015c0026 a0018c0025	a0003c0006t0004 a0003c0018t0002 a0003c0018t0018 others(13): Show a0003c0006t0004 a0003c0018t0002 a0003c0018t0018 a0003c0023t0004 a0003c0029t0015 a0004c0009t0001 a0004c0009t0010 a0004c0017t0001 a0004c0027t0001 a0004c0028t0012 a0009c0010t0008 a0010c0012t0007 a0011c0011t0002 a0015c0024t0012 a0015c0026t0017 a0018c0025t0001	a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(30): Show a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 a0003c0018t0002g0010 a0003c0018t0018g0132 a0003c0023t0004g0032 a0003c0029t0015g0019 a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 a0004c0009t0010g0127 a0004c0009t0010g0130 a0004c0017t0001g0029 a0004c0017t0001g0031 a0004c0027t0001g0034 a0004c0028t0012g0131 a0009c0010t0008g0024 a0009c0010t0008g0025 a0009c0010t0008g0035 a0009c0010t0008g0036 a0010c0012t0007g0020 a0010c0012t0007g0021 a0010c0012t0007g0022 a0010c0012t0007g0023 a0011c0011t0002g0005 a0011c0011t0002g0124 a0011c0011t0002g0125 a0015c0024t0012g0133 a0015c0026t0017g0033 a0018c0025t0001g0030	34	158	0.2152	c.56G others(2): Show c.56G>A	p.Arg others(5): Show p.Arg19His	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	2/30	300/5894	56/4149	19/1382	chr16	TogoVar
ABCC11_chr16_48160773_48252539	48231898	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02647.hp2 HG02723.hp2 others(3): Show HG01884.hp2 HG02647.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp1 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 others(2): Show a0007c0008t0003g0006 a0007c0008t0003g0136 a0007c0008t0003g0137 a0007c0008t0003g0138 a0007c0008t0003g0139	6	158	0.0380	c.24G others(2): Show c.24G>T	p.Trp others(4): Show p.Trp8Cys	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	2/30	268/5894	24/4149	8/1382	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48087989	T T	G G	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02280.hp1 HG02622.hp2 others(4): Show HG01496.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG03139.hp2 HG03453.hp1	a0006 a0023 a0024 a0006 a0023 a0024	a0006c0010 a0006c0021 a0023c0022 others(1): Show a0006c0010 a0006c0021 a0023c0022 a0024c0028	a0006c0010t0002 a0006c0021t0002 a0023c0022t0012 others(1): Show a0006c0010t0002 a0006c0021t0002 a0023c0022t0012 a0024c0028t0002	a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 others(4): Show a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0023c0022t0012g0028 a0024c0028t0002g0018	7	134	0.0522	c.357 others(4): Show c.3572A>C	p.Glu others(7): Show p.Glu1191Ala	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	27/31	4044/7385	3572/4080	1191/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48088001	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02055.hp2 others(17): Show HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp2 NA20129.hp1	a0004 a0006 a0010 others(4): Show a0004 a0006 a0010 a0012 a0014 a0015 a0018	a0004c0007 a0004c0013 a0006c0029 others(6): Show a0004c0007 a0004c0013 a0006c0029 a0010c0018 a0010c0026 a0012c0020 a0014c0016 a0015c0015 a0018c0012	a0004c0007t0003 a0004c0013t0003 a0006c0029t0018 others(6): Show a0004c0007t0003 a0004c0013t0003 a0006c0029t0018 a0010c0018t0011 a0010c0026t0016 a0012c0020t0005 a0014c0016t0005 a0015c0015t0008 a0018c0012t0007	a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(14): Show a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0116 a0004c0013t0003g0108 a0004c0013t0003g0114 a0006c0029t0018g0029 a0010c0018t0011g0021 a0010c0018t0011g0039 a0010c0026t0016g0084 a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112 a0018c0012t0007g0012	20	134	0.1493	c.356 others(4): Show c.3560T>C	p.Ile others(7): Show p.Ile1187Thr	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	27/31	4032/7385	3560/4080	1187/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48088076	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02572.hp1 HG02486.hp2 HG02572.hp1	a0018 a0018	a0018c0012 a0018c0012	a0018c0012t0007 a0018c0012t0007	a0018c0012t0007g0012 a0018c0012t0007g0012	2	134	0.0149	c.348 others(4): Show c.3485C>T	p.Ser others(7): Show p.Ser1162Leu	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	27/31	3957/7385	3485/4080	1162/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48088545	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG02572.hp2 HG02615.hp1 others(3): Show HG01884.hp1 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG03486.hp2 NA20129.hp1	a0012 a0014 a0015 a0012 a0014 a0015	a0012c0020 a0014c0016 a0015c0015 a0012c0020 a0014c0016 a0015c0015	a0012c0020t0005 a0014c0016t0005 a0015c0015t0008 a0012c0020t0005 a0014c0016t0005 a0015c0015t0008	a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 others(1): Show a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112	6	134	0.0448	c.347 others(4): Show c.3475G>A	p.Gly others(7): Show p.Gly1159Arg	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	26/31	3947/7385	3475/4080	1159/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48088671	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00735.hp1 HG00741.hp1 others(37): Show HG00544.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp2 HG01496.hp1 HG01517.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG03017.hp2 HG03139.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18962.hp1 NA18962.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0021	a0001c0001 a0001c0004 a0006c0030 others(2): Show a0001c0001 a0001c0004 a0006c0030 a0011c0019 a0021c0024	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0001c0004t0017 a0006c0030t0001 a0011c0019t0001 a0021c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0013g0079 a0001c0004t0001g0010 a0001c0004t0001g0035 a0001c0004t0001g0081 a0001c0004t0001g0083 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0017g0118 a0006c0030t0001g0119 a0011c0019t0001g0072 a0011c0019t0001g0073 a0021c0024t0001g0092	40	134	0.2985	c.334 others(4): Show c.3349C>T	p.Arg others(7): Show p.Arg1117Cys	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	26/31	3821/7385	3349/4080	1117/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48088694	G G	T T	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0001 a0022c0025t0001	a0022c0025t0001g0110 a0022c0025t0001g0110	1	134	0.0075	c.332 others(4): Show c.3326C>A	p.Thr others(7): Show p.Thr1109Asn	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	26/31	3798/7385	3326/4080	1109/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48100873	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01496.hp2 HG01884.hp1 HG01891.hp2 others(33): Show HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0004 a0006 a0008 others(9): Show a0004 a0006 a0008 a0010 a0012 a0014 a0015 a0017 a0018 a0020 a0023 a0024	a0004c0007 a0004c0013 a0006c0010 others(14): Show a0004c0007 a0004c0013 a0006c0010 a0006c0021 a0006c0029 a0006c0030 a0008c0008 a0010c0018 a0010c0026 a0012c0020 a0014c0016 a0015c0015 a0017c0011 a0018c0012 a0020c0023 a0023c0022 a0024c0028	a0004c0007t0003 a0004c0013t0003 a0006c0010t0002 others(16): Show a0004c0007t0003 a0004c0013t0003 a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 a0006c0030t0001 a0008c0008t0009 a0008c0008t0010 a0008c0008t0015 a0010c0018t0011 a0010c0026t0016 a0012c0020t0005 a0014c0016t0005 a0015c0015t0008 a0017c0011t0006 a0018c0012t0007 a0020c0023t0006 a0023c0022t0012 a0024c0028t0002	a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(29): Show a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0116 a0004c0013t0003g0108 a0004c0013t0003g0114 a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0006c0029t0018g0029 a0006c0030t0001g0119 a0008c0008t0009g0005 a0008c0008t0010g0014 a0008c0008t0010g0015 a0008c0008t0015g0016 a0010c0018t0011g0021 a0010c0018t0011g0039 a0010c0026t0016g0084 a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112 a0017c0011t0006g0115 a0017c0011t0006g0117 a0018c0012t0007g0012 a0020c0023t0006g0037 a0023c0022t0012g0028 a0024c0028t0002g0018	36	134	0.2687	c.303 others(4): Show c.3037T>C	p.Tyr others(7): Show p.Tyr1013His	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	23/31	3509/7385	3037/4080	1013/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48100912	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02622.hp2 HG03453.hp1 HG01496.hp2 HG02622.hp2 HG03453.hp1	a0006 a0024 a0006 a0024	a0006c0021 a0024c0028 a0006c0021 a0024c0028	a0006c0021t0002 a0024c0028t0002 a0006c0021t0002 a0024c0028t0002	a0006c0021t0002g0025 a0006c0021t0002g0026 a0024c0028t0002g0018 a0006c0021t0002g0025 a0006c0021t0002g0026 a0024c0028t0002g0018	3	134	0.0224	c.299 others(4): Show c.2998A>G	p.Ile others(7): Show p.Ile1000Val	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	23/31	3470/7385	2998/4080	1000/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48100945	T T	A A	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01884.hp1 HG01891.hp2 others(33): Show HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0004 a0006 a0008 others(9): Show a0004 a0006 a0008 a0010 a0012 a0014 a0015 a0017 a0018 a0020 a0023 a0024	a0004c0007 a0004c0013 a0006c0010 others(14): Show a0004c0007 a0004c0013 a0006c0010 a0006c0021 a0006c0029 a0006c0030 a0008c0008 a0010c0018 a0010c0026 a0012c0020 a0014c0016 a0015c0015 a0017c0011 a0018c0012 a0020c0023 a0023c0022 a0024c0028	a0004c0007t0003 a0004c0013t0003 a0006c0010t0002 others(16): Show a0004c0007t0003 a0004c0013t0003 a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 a0006c0030t0001 a0008c0008t0009 a0008c0008t0010 a0008c0008t0015 a0010c0018t0011 a0010c0026t0016 a0012c0020t0005 a0014c0016t0005 a0015c0015t0008 a0017c0011t0006 a0018c0012t0007 a0020c0023t0006 a0023c0022t0012 a0024c0028t0002	a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(29): Show a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0116 a0004c0013t0003g0108 a0004c0013t0003g0114 a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0006c0029t0018g0029 a0006c0030t0001g0119 a0008c0008t0009g0005 a0008c0008t0010g0014 a0008c0008t0010g0015 a0008c0008t0015g0016 a0010c0018t0011g0021 a0010c0018t0011g0039 a0010c0026t0016g0084 a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112 a0017c0011t0006g0115 a0017c0011t0006g0117 a0018c0012t0007g0012 a0020c0023t0006g0037 a0023c0022t0012g0028 a0024c0028t0002g0018	36	134	0.2687	c.296 others(4): Show c.2965A>T	p.Thr others(6): Show p.Thr989Ser	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	23/31	3437/7385	2965/4080	989/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48104361	T T	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02647.hp2 HG02896.hp2 others(4): Show HG02258.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03225.hp2 HG03516.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0031 a0005c0005t0001g0042 others(3): Show a0005c0005t0001g0009 a0005c0005t0001g0031 a0005c0005t0001g0042 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066	7	134	0.0522	c.268 others(4): Show c.2681A>T	p.Lys others(6): Show p.Lys894Met	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	22/31	3153/7385	2681/4080	894/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48105152	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0005 a0014c0016t0005	a0014c0016t0005g0004 a0014c0016t0005g0004	2	134	0.0149	c.266 others(4): Show c.2660C>T	p.Thr others(6): Show p.Thr887Met	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	21/31	3132/7385	2660/4080	887/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48105263	A A	G G	missense_variant missense_variant	MODERATE	HG00741.hp1 homoSapiens_chm13v2.hp1 HG00741.hp1 homoSapiens_chm13v2.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0072 a0011c0019t0001g0073 a0011c0019t0001g0072 a0011c0019t0001g0073	2	134	0.0149	c.254 others(4): Show c.2549T>C	p.Val others(6): Show p.Val850Ala	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	21/31	3021/7385	2549/4080	850/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48111831	T T	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02040.hp1 HG02109.hp2 others(11): Show HG00558.hp1 HG02040.hp1 HG02109.hp2 HG02129.hp2 HG02630.hp1 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp2 NA20300.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0009 a0003c0003 a0009c0009	a0003c0003t0001 a0003c0003t0004 a0003c0003t0014 others(1): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0014 a0009c0009t0001	a0003c0003t0001g0088 a0003c0003t0004g0008 a0003c0003t0004g0045 others(9): Show a0003c0003t0001g0088 a0003c0003t0004g0008 a0003c0003t0004g0045 a0003c0003t0004g0061 a0003c0003t0004g0062 a0003c0003t0004g0085 a0003c0003t0004g0100 a0003c0003t0014g0068 a0009c0009t0001g0003 a0009c0009t0001g0017 a0009c0009t0001g0019 a0009c0009t0001g0020	14	134	0.1045	c.206 others(4): Show c.2069A>T	p.Glu others(6): Show p.Glu690Val	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	16/31	2541/7385	2069/4080	690/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48115458	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02965.hp1 HG02970.hp1 HG01891.hp1 HG02965.hp1 HG02970.hp1	a0016 a0022 a0016 a0022	a0016c0017 a0022c0025 a0016c0017 a0022c0025	a0016c0017t0002 a0022c0025t0001 a0016c0017t0002 a0022c0025t0001	a0016c0017t0002g0109 a0016c0017t0002g0111 a0022c0025t0001g0110 a0016c0017t0002g0109 a0016c0017t0002g0111 a0022c0025t0001g0110	3	134	0.0224	c.194 others(4): Show c.1946C>T	p.Thr others(6): Show p.Thr649Met	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	15/31	2418/7385	1946/4080	649/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48117287	T T	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02257.hp1 HG02280.hp1 others(13): Show HG01884.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp2	a0007 a0014 a0015 others(4): Show a0007 a0014 a0015 a0017 a0018 a0021 a0023	a0007c0006 a0014c0016 a0015c0015 others(4): Show a0007c0006 a0014c0016 a0015c0015 a0017c0011 a0018c0012 a0021c0024 a0023c0022	a0007c0006t0001 a0014c0016t0005 a0015c0015t0008 others(4): Show a0007c0006t0001 a0014c0016t0005 a0015c0015t0008 a0017c0011t0006 a0018c0012t0007 a0021c0024t0001 a0023c0022t0012	a0007c0006t0001g0011 a0007c0006t0001g0090 a0007c0006t0001g0091 others(10): Show a0007c0006t0001g0011 a0007c0006t0001g0090 a0007c0006t0001g0091 a0007c0006t0001g0093 a0007c0006t0001g0094 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112 a0017c0011t0006g0115 a0017c0011t0006g0117 a0018c0012t0007g0012 a0021c0024t0001g0092 a0023c0022t0012g0028	16	134	0.1194	c.175 others(4): Show c.1759A>T	p.Asn others(6): Show p.Asn587Tyr	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	14/31	2231/7385	1759/4080	587/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48139215	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02965.hp1 HG02970.hp1 HG01891.hp1 HG02965.hp1 HG02970.hp1	a0016 a0022 a0016 a0022	a0016c0017 a0022c0025 a0016c0017 a0022c0025	a0016c0017t0002 a0022c0025t0001 a0016c0017t0002 a0022c0025t0001	a0016c0017t0002g0109 a0016c0017t0002g0111 a0022c0025t0001g0110 a0016c0017t0002g0109 a0016c0017t0002g0111 a0022c0025t0001g0110	3	134	0.0224	c.779 others(3): Show c.779G>T	p.Gly others(6): Show p.Gly260Val	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	7/31	1251/7385	779/4080	260/1359	chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)