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
ABCA5_chr17_69239311_69332133	69291217	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01168.hp2 HG01169.hp1 HG01433.hp2 others(6): Show HG01168.hp2 HG01169.hp1 HG01433.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18995.hp2 NA19057.hp2 NA19076.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0007 a0001c0006t0018 a0001c0006t0001 a0001c0006t0007 a0001c0006t0018	a0001c0006t0001g0105 a0001c0006t0001g0109 a0001c0006t0001g0110 others(6): Show a0001c0006t0001g0105 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0006t0007g0054 a0001c0006t0007g0106 a0001c0006t0007g0107 a0001c0006t0007g0108 a0001c0006t0018g0092	9	350	0.0257	c.160 others(4): Show c.1605T>C	p.Asp others(6): Show p.Asp535Asp	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	12/39	1702/8252	1605/4929	535/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69314311	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG03130.hp1 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0337 a0001c0004t0003g0338 a0001c0004t0003g0337 a0001c0004t0003g0338	2	350	0.0057	c.102 others(5): Show c.102+3A>T		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	2/38				chr17	TogoVar
ABCA6_chr17_69073702_69146895	69079202	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02622.hp1	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0001 a0024c0029t0001	a0024c0029t0001g0243 a0024c0029t0001g0243	1	326	0.0031	c.475 others(6): Show c.4752+8A>G		ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	38/38				chr17	TogoVar
ABCA6_chr17_69073702_69146895	69084424	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02717.hp2 HG02970.hp1 HG02145.hp2 HG02717.hp2 HG02970.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0001 a0001c0001t0001 a0006c0013t0001	a0001c0001t0001g0074 a0006c0013t0001g0165 a0006c0013t0001g0249 a0001c0001t0001g0074 a0006c0013t0001g0165 a0006c0013t0001g0249	3	326	0.0092	c.426 others(6): Show c.4260+8C>T		ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	33/38				chr17	TogoVar
ABCA6_chr17_69073702_69146895	69085020	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00639.hp1 HG01074.hp2 HG00140.hp2 HG00639.hp1 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234	3	326	0.0092	c.418 others(6): Show c.4184+8C>T		ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	32/38				chr17	TogoVar
ABCA6_chr17_69073702_69146895	69087355	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0058 a0014c0018t0002g0058	1	326	0.0031	c.381 others(4): Show c.3817G>A	p.Glu others(7): Show p.Glu1273Lys	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	29/39	4013/5321	3817/4854	1273/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69110801	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19089.hp1 NA19089.hp1	a0023 a0023	a0023c0023 a0023c0023	a0023c0023t0002 a0023c0023t0002	a0023c0023t0002g0190 a0023c0023t0002g0190	1	326	0.0031	c.227 others(4): Show c.2272G>A	p.Asp others(6): Show p.Asp758Asn	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	17/39	2468/5321	2272/4854	758/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69128612	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01071.hp1 HG02895.hp2 HG01070.hp1 HG01071.hp1 HG02895.hp2	a0005 a0012 a0005 a0012	a0005c0005 a0012c0030 a0005c0005 a0012c0030	a0005c0005t0002 a0012c0030t0002 a0005c0005t0002 a0012c0030t0002	a0005c0005t0002g0126 a0005c0005t0002g0127 a0012c0030t0002g0131 a0005c0005t0002g0126 a0005c0005t0002g0127 a0012c0030t0002g0131	3	326	0.0092	c.111 others(6): Show c.1119+7G>T		ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	8/38				chr17	TogoVar
ABCA7_chr19_1035107_1070572	1046405	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0004 a0005c0022t0001g0004	1	30	0.0333	c.162 others(4): Show c.1621G>A	p.Val others(6): Show p.Val541Met	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	13/47	1848/6815	1621/6441	541/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049013	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp1 HG00673.hp2 HG01071.hp1 others(23): Show HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0002c0003 a0002c0009 others(16): Show a0001c0001 a0002c0003 a0002c0009 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0006c0020 a0007c0021 a0010c0010 a0011c0008 a0012c0016 a0013c0013 a0014c0019 a0015c0018 a0016c0014 a0017c0017 a0018c0015 a0019c0012	a0001c0001t0003 a0002c0003t0001 a0002c0009t0001 others(16): Show a0001c0001t0003 a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001 a0010c0010t0001 a0011c0008t0002 a0012c0016t0001 a0013c0013t0002 a0014c0019t0002 a0015c0018t0001 a0016c0014t0002 a0017c0017t0001 a0018c0015t0001 a0019c0012t0001	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(23): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001 a0010c0010t0001g0013 a0011c0008t0002g0014 a0012c0016t0001g0024 a0013c0013t0002g0030 a0014c0019t0002g0029 a0015c0018t0001g0028 a0016c0014t0002g0025 a0017c0017t0001g0027 a0018c0015t0001g0022 a0019c0012t0001g0026	26	30	0.8667	c.238 others(6): Show c.2380+8A>C		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	17/46				chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051934	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02723.hp2 HG02723.hp1 HG02723.hp2	a0010 a0011 a0010 a0011	a0010c0010 a0011c0008 a0010c0010 a0011c0008	a0010c0010t0001 a0011c0008t0002 a0010c0010t0001 a0011c0008t0002	a0010c0010t0001g0013 a0011c0008t0002g0014 a0010c0010t0001g0013 a0011c0008t0002g0014	2	30	0.0667	c.296 others(6): Show c.2963-8G>A		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	21/46				chr19	TogoVar
ABCA7_chr19_1035107_1070572	1053840	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02723.hp1 HG02451.hp2 HG02723.hp1	a0005 a0010 a0005 a0010	a0005c0022 a0010c0010 a0005c0022 a0010c0010	a0005c0022t0001 a0010c0010t0001 a0005c0022t0001 a0010c0010t0001	a0005c0022t0001g0004 a0010c0010t0001g0013 a0005c0022t0001g0004 a0010c0010t0001g0013	2	30	0.0667	c.347 others(6): Show c.3472+4C>T		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	25/46				chr19	TogoVar
ABCA7_chr19_1035107_1070572	1056066	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00673.hp1 HG02145.hp1 HG02145.hp2 others(11): Show HG00673.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02970.hp1 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0007 a0010 a0012 a0013 a0018	a0002c0003 a0002c0009 a0002c0011 others(8): Show a0002c0003 a0002c0009 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0007c0021 a0010c0010 a0012c0016 a0013c0013 a0018c0015	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(8): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0007c0021t0001 a0010c0010t0001 a0012c0016t0001 a0013c0013t0002 a0018c0015t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(11): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0007c0021t0001g0001 a0010c0010t0001g0013 a0012c0016t0001g0024 a0013c0013t0002g0030 a0018c0015t0001g0022	14	30	0.4667	c.423 others(4): Show c.4239A>G	p.Arg others(7): Show p.Arg1413Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	32/47	4466/6815	4239/6441	1413/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1062165	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02970.hp1 HG02970.hp2 others(2): Show HG02145.hp2 HG02970.hp1 HG02970.hp2 NA18983.hp2 NA19066.hp1	a0003 a0006 a0008 others(1): Show a0003 a0006 a0008 a0016	a0003c0005 a0006c0020 a0008c0006 others(1): Show a0003c0005 a0006c0020 a0008c0006 a0016c0014	a0003c0005t0002 a0006c0020t0002 a0008c0006t0002 others(1): Show a0003c0005t0002 a0006c0020t0002 a0008c0006t0002 a0016c0014t0002	a0003c0005t0002g0002 a0003c0005t0002g0003 a0006c0020t0002g0020 others(2): Show a0003c0005t0002g0002 a0003c0005t0002g0003 a0006c0020t0002g0020 a0008c0006t0002g0006 a0016c0014t0002g0025	5	30	0.1667	c.557 others(6): Show c.5571-7T>C		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	41/46				chr19	TogoVar
ABCA8_chr17_68862289_68960392	68885189	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02258.hp1	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0001 a0030c0030t0001	a0030c0030t0001g0103 a0030c0030t0001g0103	1	274	0.0037	c.354 others(6): Show c.3549+7A>C		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	27/39				chr17	TogoVar
ABCA8_chr17_68862289_68960392	68885315	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0056 a0013c0056	a0013c0056t0001 a0013c0056t0001	a0013c0056t0001g0135 a0013c0056t0001g0135	1	274	0.0037	c.343 others(4): Show c.3430G>A	p.Val others(7): Show p.Val1144Ile	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	27/40	3770/6002	3430/4866	1144/1621	chr17	TogoVar
ABCA8_chr17_68862289_68960392	68903295	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG03139.hp2 HG03209.hp2 others(1): Show HG02896.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0039 a0001c0002 a0008c0039	a0001c0002t0001 a0008c0039t0001 a0001c0002t0001 a0008c0039t0001	a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0183 others(1): Show a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0183 a0008c0039t0001g0154	4	274	0.0146	c.259 others(6): Show c.2597+6T>C		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	20/39				chr17	TogoVar
ABCA8_chr17_68862289_68960392	68919484	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0086 a0001c0003t0002g0086	1	274	0.0037	c.161 others(6): Show c.1613-8T>C		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	13/39				chr17	TogoVar
ABCA8_chr17_68862289_68960392	68929042	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0009 a0009	a0009c0031 a0009c0032 a0009c0031 a0009c0032	a0009c0031t0001 a0009c0032t0005 a0009c0031t0001 a0009c0032t0005	a0009c0031t0001g0096 a0009c0032t0005g0095 a0009c0031t0001g0096 a0009c0032t0005g0095	2	274	0.0073	c.112 others(6): Show c.1125+7T>C		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	9/39				chr17	TogoVar
ABCA8_chr17_68862289_68960392	68949475	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01346.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0054 a0006c0014t0001g0054	1	274	0.0037	c.-16 others(6): Show c.-166-3C>T		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	1/39				chr17	TogoVar
ABCA9_chr17_68969488_69065927	68984878	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19009.hp1 NA19067.hp2 NA19009.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	312	0.0064	c.437 others(6): Show c.4379+7T>G		ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	34/38				chr17	TogoVar
ABCA9_chr17_68969488_69065927	69007870	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0200 a0001c0029t0001g0200	1	312	0.0032	c.332 others(4): Show c.3324C>T	p.Ile others(7): Show p.Ile1108Ile	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	25/39	3399/6377	3324/4875	1108/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69008235	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0273 a0010c0012t0001g0282 a0010c0012t0001g0273 a0010c0012t0001g0282	2	312	0.0064	c.314 others(4): Show c.3148A>T	p.Lys others(5): Show p.Lys1050*	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	24/39	3223/6377	3148/4875	1050/1624	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69032280	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	312	0.0032	c.127 others(6): Show c.1277-4A>G		ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	9/38				chr17	TogoVar
ABCB10_chr1_229511582_229563707	229518834	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	284	0.0035	c.198 others(6): Show c.1985+7A>C		ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	12/12				chr1	TogoVar
ABCB10_chr1_229511582_229563707	229531628	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	284	0.0035	c.143 others(6): Show c.1435+8T>A		ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	7/12				chr1	TogoVar
ABCB10_chr1_229511582_229563707	229531637	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp1 HG03098.hp1 HG02280.hp1 HG03098.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0026 a0007c0008t0003g0027 a0007c0008t0003g0026 a0007c0008t0003g0027	2	284	0.0070	c.143 others(4): Show c.1434C>A	p.Asn others(6): Show p.Asn478Lys	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	7/13	1489/3869	1434/2217	478/738	chr1	TogoVar
ABCB10_chr1_229511582_229563707	229539596	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01516.hp2 HG02040.hp1 others(19): Show HG01243.hp1 HG01516.hp2 HG02040.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0003 a0002c0009 others(2): Show a0001c0002 a0002c0003 a0002c0009 a0002c0010 a0007c0008	a0001c0002t0003 a0002c0003t0003 a0002c0003t0007 others(3): Show a0001c0002t0003 a0002c0003t0003 a0002c0003t0007 a0002c0009t0003 a0002c0010t0009 a0007c0008t0003	a0001c0002t0003g0035 a0001c0002t0003g0053 a0001c0002t0003g0118 others(19): Show a0001c0002t0003g0035 a0001c0002t0003g0053 a0001c0002t0003g0118 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0007g0024 a0002c0003t0007g0025 a0002c0009t0003g0029 a0002c0010t0009g0034 a0007c0008t0003g0026 a0007c0008t0003g0027	22	284	0.0775	c.120 others(6): Show c.1204-5G>A		ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	5/12				chr1	TogoVar
ABCB11_chr2_168915781_169036324	169013264	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00733.hp2 HG02486.hp1 others(7): Show HG00323.hp2 HG00733.hp2 HG02486.hp1 HG02572.hp2 HG02683.hp2 HG03486.hp2 HG06807.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0016	a0002c0055 a0003c0050 a0004c0009 others(3): Show a0002c0055 a0003c0050 a0004c0009 a0004c0023 a0004c0058 a0016c0057	a0002c0055t0018 a0003c0050t0009 a0004c0009t0004 others(6): Show a0002c0055t0018 a0003c0050t0009 a0004c0009t0004 a0004c0009t0005 a0004c0009t0007 a0004c0009t0022 a0004c0023t0001 a0004c0058t0001 a0016c0057t0016	a0002c0055t0018g0099 a0003c0050t0009g0100 a0004c0009t0004g0101 others(7): Show a0002c0055t0018g0099 a0003c0050t0009g0100 a0004c0009t0004g0101 a0004c0009t0005g0095 a0004c0009t0007g0094 a0004c0009t0022g0092 a0004c0023t0001g0096 a0004c0023t0001g0097 a0004c0058t0001g0098 a0016c0057t0016g0093	10	306	0.0327	c.389 others(5): Show c.389+8G>A		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/27				chr2	TogoVar
ABCB11_chr2_168915781_169036324	169016779	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0069 a0002c0069	a0002c0069t0031 a0002c0069t0031	a0002c0069t0031g0063 a0002c0069t0031g0063	1	306	0.0033	c.97A others(2): Show c.97A>C	p.Arg others(5): Show p.Arg33Arg	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	3/28	224/6934	97/3966	33/1321	chr2	TogoVar
ABCB1_chr7_87498017_87605884	87550300	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0039 a0001c0018t0017g0039	1	352	0.0028	c.122 others(6): Show c.1225-4G>A		ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	11/27				chr7	TogoVar
ABCB4_chr7_87396696_87480680	87431398	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG03491.hp2 HG02735.hp1 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0145 a0001c0003t0001g0146	2	290	0.0069	c.189 others(6): Show c.1893+6T>C		ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	15/27				chr7	TogoVar
ABCB4_chr7_87396696_87480680	87440193	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	290	0.0035	c.156 others(6): Show c.1560+6G>A		ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	13/27				chr7	TogoVar
ABCB4_chr7_87396696_87480680	87450090	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(111): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0002 a0001c0007 a0001c0019 others(9): Show a0001c0002 a0001c0007 a0001c0019 a0001c0026 a0002c0004 a0002c0005 a0002c0021 a0002c0024 a0002c0027 a0003c0011 a0006c0028 a0008c0025	a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 a0001c0019t0001 a0001c0026t0001 a0002c0004t0001 a0002c0005t0001 a0002c0021t0001 a0002c0024t0001 a0002c0027t0001 a0003c0011t0001 a0006c0028t0001 a0008c0025t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0010 others(96): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0003g0033 a0001c0007t0001g0034 a0001c0007t0001g0037 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0019t0001g0023 a0001c0026t0001g0082 a0002c0004t0001g0003 a0002c0004t0001g0008 a0002c0004t0001g0009 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0095 a0002c0004t0001g0105 a0002c0004t0001g0253 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0005t0001g0042 a0002c0005t0001g0046 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0001g0055 a0002c0005t0001g0056 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0021t0001g0107 a0002c0024t0001g0039 a0002c0027t0001g0256 a0003c0011t0001g0111 a0003c0011t0001g0112 a0003c0011t0001g0113 a0003c0011t0001g0114 a0006c0028t0001g0068 a0008c0025t0001g0091	114	290	0.3931	c.711 others(3): Show c.711A>T	p.Ile others(6): Show p.Ile237Ile	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	8/28	764/4293	711/3840	237/1279	chr7	TogoVar
ABCB4_chr7_87396696_87480680	87475475	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0026 a0003c0008t0001g0024 a0003c0008t0001g0025 a0001c0001t0001g0026 a0003c0008t0001g0024 a0003c0008t0001g0025	3	290	0.0103	c.-6- others(4): Show c.-6-4T>C		ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	1/27				chr7	TogoVar
ABCB5_chr7_20610667_20762008	20628844	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0290 a0004c0004t0002g0290	1	360	0.0028	c.259 others(5): Show c.259+6T>A		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	4/27				chr7	TogoVar
ABCB5_chr7_20610667_20762008	20643632	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03225.hp2 HG03225.hp2	a0051 a0051	a0051c0045 a0051c0045	a0051c0045t0004 a0051c0045t0004	a0051c0045t0004g0062 a0051c0045t0004g0062	1	360	0.0028	c.678 others(3): Show c.678G>A	p.Arg others(6): Show p.Arg226Arg	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	7/28	870/5350	678/3774	226/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20645885	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(123): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19067.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0002 a0007 a0010 others(34): Show a0002 a0007 a0010 a0011 a0012 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0028 a0029 a0030 a0032 a0037 a0038 a0047 a0049 a0051 a0052 a0053 a0054 a0055 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071	a0002c0003 a0002c0012 a0002c0014 others(51): Show a0002c0003 a0002c0012 a0002c0014 a0002c0035 a0002c0041 a0002c0048 a0007c0011 a0007c0016 a0007c0032 a0007c0047 a0007c0070 a0010c0026 a0010c0031 a0010c0042 a0010c0094 a0011c0017 a0011c0025 a0012c0013 a0012c0080 a0016c0021 a0017c0084 a0017c0085 a0017c0086 a0018c0037 a0019c0036 a0021c0033 a0022c0089 a0023c0046 a0023c0087 a0024c0093 a0028c0034 a0029c0039 a0030c0038 a0032c0108 a0037c0102 a0038c0049 a0047c0059 a0049c0095 a0051c0045 a0052c0092 a0053c0090 a0054c0091 a0055c0088 a0061c0081 a0062c0083 a0063c0082 a0064c0079 a0065c0099 a0066c0100 a0067c0098 a0068c0097 a0069c0096 a0070c0101 a0071c0044	a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 others(69): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0012t0001 a0002c0012t0003 a0002c0014t0001 a0002c0014t0003 a0002c0014t0011 a0002c0035t0001 a0002c0035t0005 a0002c0041t0001 a0002c0048t0012 a0007c0011t0001 a0007c0011t0004 a0007c0016t0001 a0007c0016t0003 a0007c0032t0003 a0007c0047t0004 a0007c0070t0009 a0010c0026t0004 a0010c0026t0006 a0010c0031t0009 a0010c0042t0004 a0010c0094t0004 a0011c0017t0003 a0011c0017t0007 a0011c0025t0001 a0011c0025t0003 a0011c0025t0007 a0012c0013t0001 a0012c0013t0002 a0012c0080t0001 a0016c0021t0001 a0016c0021t0014 a0017c0084t0004 a0017c0085t0004 a0017c0086t0004 a0018c0037t0001 a0019c0036t0001 a0021c0033t0003 a0022c0089t0004 a0023c0046t0001 a0023c0087t0001 a0024c0093t0001 a0028c0034t0001 a0028c0034t0018 a0029c0039t0001 a0030c0038t0016 a0030c0038t0020 a0032c0108t0004 a0037c0102t0023 a0038c0049t0004 a0047c0059t0003 a0049c0095t0006 a0051c0045t0004 a0052c0092t0005 a0053c0090t0004 a0054c0091t0004 a0055c0088t0004 a0061c0081t0008 a0062c0083t0002 a0063c0082t0001 a0064c0079t0001 a0065c0099t0004 a0066c0100t0005 a0067c0098t0006 a0068c0097t0004 a0069c0096t0001 a0070c0101t0004 a0071c0044t0001	a0002c0003t0001g0349 a0002c0003t0003g0001 a0002c0003t0003g0005 others(123): Show a0002c0003t0001g0349 a0002c0003t0003g0001 a0002c0003t0003g0005 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0007g0033 a0002c0003t0009g0008 a0002c0003t0011g0013 a0002c0012t0001g0084 a0002c0012t0001g0088 a0002c0012t0001g0090 a0002c0012t0001g0121 a0002c0012t0001g0359 a0002c0012t0001g0360 a0002c0012t0003g0011 a0002c0014t0001g0234 a0002c0014t0001g0235 a0002c0014t0003g0002 a0002c0014t0003g0049 a0002c0014t0011g0007 a0002c0035t0001g0070 a0002c0035t0005g0091 a0002c0041t0001g0119 a0002c0048t0012g0060 a0007c0011t0001g0077 a0007c0011t0001g0078 a0007c0011t0001g0079 a0007c0011t0001g0080 a0007c0011t0004g0058 a0007c0011t0004g0059 a0007c0011t0004g0067 a0007c0011t0004g0124 a0007c0016t0001g0115 a0007c0016t0003g0010 a0007c0016t0003g0051 a0007c0032t0003g0019 a0007c0032t0003g0020 a0007c0047t0004g0063 a0007c0070t0009g0009 a0010c0026t0004g0072 a0010c0026t0004g0126 a0010c0026t0006g0083 a0010c0031t0009g0006 a0010c0042t0004g0120 a0010c0094t0004g0068 a0011c0017t0003g0004 a0011c0017t0003g0050 a0011c0017t0007g0042 a0011c0017t0007g0052 a0011c0025t0001g0094 a0011c0025t0003g0017 a0011c0025t0007g0024 a0012c0013t0001g0099 a0012c0013t0001g0101 a0012c0013t0001g0110 a0012c0013t0001g0251 a0012c0013t0002g0109 a0012c0013t0002g0113 a0012c0080t0001g0104 a0016c0021t0001g0103 a0016c0021t0001g0106 a0016c0021t0014g0105 a0017c0084t0004g0122 a0017c0085t0004g0123 a0017c0086t0004g0128 a0018c0037t0001g0065 a0018c0037t0001g0074 a0019c0036t0001g0071 a0019c0036t0001g0073 a0021c0033t0003g0037 a0021c0033t0003g0038 a0022c0089t0004g0069 a0023c0046t0001g0089 a0023c0087t0001g0081 a0024c0093t0001g0075 a0028c0034t0001g0108 a0028c0034t0018g0100 a0029c0039t0001g0351 a0029c0039t0001g0353 a0030c0038t0016g0352 a0030c0038t0020g0354 a0032c0108t0004g0061 a0037c0102t0023g0043 a0038c0049t0004g0348 a0047c0059t0003g0012 a0049c0095t0006g0129 a0051c0045t0004g0062 a0052c0092t0005g0082 a0053c0090t0004g0125 a0054c0091t0004g0066 a0055c0088t0004g0076 a0061c0081t0008g0111 a0062c0083t0002g0112 a0063c0082t0001g0102 a0064c0079t0001g0107 a0065c0099t0004g0093 a0066c0100t0005g0097 a0067c0098t0006g0092 a0068c0097t0004g0098 a0069c0096t0001g0095 a0070c0101t0004g0096 a0071c0044t0001g0130	126	360	0.3500	c.803 others(5): Show c.803+5T>G		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	8/27				chr7	TogoVar
ABCB5_chr7_20610667_20762008	20728454	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0044 a0044	a0044c0056 a0044c0056	a0044c0056t0001 a0044c0056t0001	a0044c0056t0001g0200 a0044c0056t0001g0200	1	360	0.0028	c.286 others(4): Show c.2866A>T	p.Ile others(6): Show p.Ile956Leu	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/28	3058/5350	2866/3774	956/1257	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75062320	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0197 a0001c0001t0011g0197	1	232	0.0043	c.193 others(6): Show c.1935+8A>G		ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	14/15				chrX	TogoVar
ABCB7_chrX_75046048_75161283	75070362	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	232	0.0043	c.136 others(6): Show c.1365+3A>G		ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	10/15				chrX	TogoVar
ABCB8_chr7_151023450_151052782	151034432	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG06807.hp1 NA18906.hp2 HG01891.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0028 a0001c0001t0012 a0001c0001t0028	a0001c0001t0012g0034 a0001c0001t0012g0120 a0001c0001t0028g0034 a0001c0001t0012g0034 a0001c0001t0012g0120 a0001c0001t0028g0034	3	400	0.0075	c.564 others(5): Show c.564+4C>T		ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	3/15				chr7	TogoVar
ABCB8_chr7_151023450_151052782	151040642	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01069.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0078 a0004c0005t0004g0078	1	400	0.0025	c.138 others(6): Show c.1388+8C>T		ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	11/15				chr7	TogoVar
ABCB8_chr7_151023450_151052782	151041093	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp1 HG01256.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG01256.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	4	400	0.0100	c.148 others(6): Show c.1484-6C>T		ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	12/15				chr7	TogoVar
ABCB9_chr12_122923992_122971463	122932185	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	272	0.0037	c.204 others(6): Show c.2040+7C>T		ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	11/11				chr12	TogoVar
ABCB9_chr12_122923992_122971463	122950563	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0143 a0008c0007t0001g0143	1	272	0.0037	c.604 others(3): Show c.604G>A	p.Glu others(6): Show p.Glu202Lys	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	3/12	868/3484	604/2301	202/766	chr12	TogoVar
ABCC10_chr6_43422541_43455427	43433367	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(95): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19082.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0001c0022 others(1): Show a0001c0001 a0001c0015 a0001c0022 a0002c0003	a0001c0001t0001 a0001c0015t0001 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0015t0001 a0001c0022t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0015t0001g0160 a0001c0022t0001g0184 a0002c0003t0001g0018 a0002c0003t0001g0157 a0002c0003t0001g0167 a0002c0003t0001g0171 a0002c0003t0001g0186 a0002c0003t0001g0193	98	342	0.2866	c.138 others(6): Show c.1380+7G>A		ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	3/21				chr6	TogoVar
ABCC10_chr6_43422541_43455427	43437927	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02109.hp1 HG02109.hp2 others(10): Show HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0001g0143 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0002c0003t0001g0142	13	342	0.0380	c.187 others(6): Show c.1876-7C>T		ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	6/21				chr6	TogoVar
ABCC10_chr6_43422541_43455427	43445127	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG00621.hp2 HG00639.hp2 others(57): Show HG00140.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18954.hp2 NA18955.hp1 NA18970.hp2 NA19043.hp1 NA19058.hp2 NA19062.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0003 a0002c0004 a0002c0007 others(4): Show a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0003c0006 a0005c0008 a0010c0011	a0002c0003t0001 a0002c0003t0005 a0002c0004t0002 others(5): Show a0002c0003t0001 a0002c0003t0005 a0002c0004t0002 a0002c0007t0002 a0002c0017t0001 a0003c0006t0002 a0005c0008t0001 a0010c0011t0002	a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0001g0024 others(42): Show a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0001g0024 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0060 a0002c0003t0001g0082 a0002c0003t0001g0096 a0002c0003t0001g0100 a0002c0003t0001g0107 a0002c0003t0001g0115 a0002c0003t0001g0126 a0002c0003t0001g0142 a0002c0003t0001g0157 a0002c0003t0001g0167 a0002c0003t0001g0171 a0002c0003t0001g0186 a0002c0003t0001g0193 a0002c0003t0005g0111 a0002c0004t0002g0010 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0203 a0002c0004t0002g0204 a0002c0004t0002g0205 a0002c0004t0002g0207 a0002c0004t0002g0208 a0002c0007t0002g0112 a0002c0007t0002g0113 a0002c0007t0002g0118 a0002c0007t0002g0119 a0002c0017t0001g0087 a0003c0006t0002g0012 a0003c0006t0002g0081 a0003c0006t0002g0095 a0005c0008t0001g0020 a0005c0008t0001g0035 a0010c0011t0002g0128	60	342	0.1754	c.284 others(4): Show c.2843T>C	p.Ile others(6): Show p.Ile948Thr	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	14/22	3071/5043	2843/4479	948/1492	chr6	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

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