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	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCB7_chrX_75046048_75161283	75153760	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0216 a0001c0001t0016g0216	1	232	0.0043	20	c.168 others(37): Show c.168+2344_168+2345insTATATATATATATATATATA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCC11_chr16_48160773_48252539	48243993	G G	GAATAAAT others(13): Show GAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG02083.hp2 others(3): Show HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02486.hp1 HG02965.hp2	a0003 a0010 a0011 a0003 a0010 a0011	a0003c0006 a0003c0023 a0010c0012 others(1): Show a0003c0006 a0003c0023 a0010c0012 a0011c0011	a0003c0006t0004 a0003c0023t0004 a0010c0012t0007 others(1): Show a0003c0006t0004 a0003c0023t0004 a0010c0012t0007 a0011c0011t0002	a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(3): Show a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0023t0004g0032 a0010c0012t0007g0023 a0011c0011t0002g0125	6	158	0.0380	20	c.-19 others(37): Show c.-19+3301_-19+3320dupTATTTATTTATTTATTTATT	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	1/29			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0114 a0001c0004t0006g0114	1	249	0.0040	20	c.-50 others(31): Show c.-5035_-5034insTGTGTGTATATATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0115 a0001c0007t0008g0115	1	249	0.0040	20	c.-50 others(31): Show c.-5035_-5034insTGTGTGTGTATATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03669.hp1 HG02109.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0079 a0001c0001t0011g0032 a0001c0001t0007g0079 a0001c0001t0011g0032	2	249	0.0080	20	c.-50 others(31): Show c.-5035_-5034insTGTGTGTGTGTGTATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15993939	T T	TTAGAATT others(13): Show TTAGAATTCTGGCTGGGCATG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0195 a0001c0002t0003g0195	1	249	0.0040	20	c.49- others(37): Show c.49-13876_49-13857dupTAGAATTCTGGCTGGGCATG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0012 a0001c0037t0012	a0001c0037t0012g0041 a0001c0037t0012g0041	1	249	0.0040	20	c.49- others(35): Show c.49-7961_49-7942dupTTTCTTTCTTTCTTTCTTTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16120196	C C	CAAAGCCA others(13): Show CAAAGCCACCAGTACAGCCAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02523.hp1 NA18944.hp2 others(2): Show HG00438.hp1 HG02523.hp1 NA18944.hp2 NA18971.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0025 a0001c0002t0001 a0001c0003t0001 a0001c0003t0025	a0001c0002t0001g0133 a0001c0003t0001g0152 a0001c0003t0001g0165 others(2): Show a0001c0002t0001g0133 a0001c0003t0001g0152 a0001c0003t0001g0165 a0001c0003t0001g0242 a0001c0003t0025g0141	5	249	0.0201	20	c.339 others(39): Show c.3391-1779_3391-1778insAAAGCCACCAGTACAGCCAG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	23/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02055.hp1 HG02257.hp1 others(8): Show HG01981.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02602.hp1 HG02717.hp1 HG02896.hp2 HG02976.hp1 NA18612.hp1 NA18906.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0017t0002	a0001c0001t0001g0084 a0001c0001t0005g0104 a0001c0001t0005g0107 others(8): Show a0001c0001t0001g0084 a0001c0001t0005g0104 a0001c0001t0005g0107 a0001c0001t0012g0105 a0001c0001t0017g0021 a0001c0002t0001g0103 a0001c0002t0004g0192 a0001c0002t0004g0204 a0001c0002t0008g0140 a0001c0003t0001g0164 a0001c0017t0002g0007	11	249	0.0442	20	c.359 others(37): Show c.3591-440_3591-439insTGTGTATGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 NA20129.hp1 HG01257.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0028 a0001c0004t0002 a0001c0004t0028	a0001c0004t0002g0168 a0001c0004t0028g0170 a0001c0004t0002g0168 a0001c0004t0028g0170	2	249	0.0080	20	c.22 others(31): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0001 a0004c0029t0001	a0004c0029t0001g0331 a0004c0029t0001g0331	1	336	0.0030	20	c.-43 others(31): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAAAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778453	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03831.hp2 HG02602.hp1 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0254 a0002c0003t0001g0256 a0002c0003t0001g0254 a0002c0003t0001g0256	2	336	0.0060	20	c.-43 others(31): Show c.-4392_-4391insAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4186		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778455	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(100): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0011 a0012 a0021 a0023 a0024 a0028	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0035 a0001c0042 a0004c0006 a0005c0008 a0011c0015 a0012c0041 a0021c0026 a0023c0034 a0024c0033 a0028c0040	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0007t0003 a0001c0014t0001 a0001c0035t0002 a0001c0042t0002 a0004c0006t0001 a0005c0008t0001 a0011c0015t0001 a0012c0041t0002 a0021c0026t0006 a0023c0034t0002 a0024c0033t0003 a0028c0040t0002	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 others(100): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0004g0098 a0001c0002t0002g0032 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0003g0018 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0039 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0054 a0001c0002t0003g0057 a0001c0002t0003g0061 a0001c0002t0003g0068 a0001c0002t0003g0070 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0097 a0001c0002t0003g0113 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0124 a0001c0002t0006g0016 a0001c0002t0006g0017 a0001c0002t0011g0029 a0001c0007t0003g0022 a0001c0007t0003g0023 a0001c0007t0003g0024 a0001c0007t0003g0025 a0001c0007t0003g0027 a0001c0014t0001g0021 a0001c0035t0002g0044 a0001c0042t0002g0064 a0004c0006t0001g0020 a0004c0006t0001g0036 a0004c0006t0001g0078 a0004c0006t0001g0079 a0004c0006t0001g0088 a0005c0008t0001g0028 a0005c0008t0001g0045 a0011c0015t0001g0014 a0011c0015t0001g0015 a0012c0041t0002g0071 a0021c0026t0006g0019 a0023c0034t0002g0042 a0024c0033t0003g0080 a0028c0040t0002g0089	103	336	0.3066	20	c.-43 others(31): Show c.-4390_-4389insAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4184		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814256	T T	TACACACA others(13): Show TACACACATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp1 HG02630.hp2 others(2): Show HG01255.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0147 a0001c0001t0001g0215 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0147 a0001c0001t0001g0215 a0001c0001t0001g0225 a0003c0004t0001g0144 a0003c0004t0001g0171	5	336	0.0149	20	c.209 others(39): Show c.2094+1118_2094+1119insATGTGTATATATACACACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814650	C C	CATATATG others(13): Show CATATATGTGTATATACACAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18955.hp1 HG00597.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0308 a0001c0001t0001g0267 a0001c0001t0001g0308	2	336	0.0060	20	c.209 others(39): Show c.2094+1507_2094+1508insTATATGTGTATATACACATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673900	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	342	0.0029	20	c.259 others(37): Show c.2599+304_2599+323dupTTCTTTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(13): Show TTCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	342	0.0029	20	c.259 others(37): Show c.2599+323_2599+324insTTCTCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTCT others(13): Show CTTTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	342	0.0029	20	c.259 others(37): Show c.2599+323_2599+324insTTCTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(13): Show CTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18906.hp2 NA18971.hp2 others(1): Show HG03942.hp2 NA18906.hp2 NA18971.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0169 a0001c0001t0001g0285	4	342	0.0117	20	c.259 others(37): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	342	0.0029	20	c.259 others(37): Show c.2599+323_2599+324insTTCTTTCTTTCTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	342	0.0029	20	c.259 others(37): Show c.2599+323_2599+324insTTCTTTCTTTCTTTCTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95126730	T T	TATATATA others(13): Show TATATATATATATATTCCAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0153 a0002c0004t0001g0153	1	248	0.0040	20	c.245 others(41): Show c.2456-10730_2456-10729insTTTGGAATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95157088	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG02647.hp1 HG02896.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0009 a0001c0021t0001g0011 a0001c0021t0001g0009 a0001c0021t0001g0011	2	248	0.0081	20	c.245 others(39): Show c.2455+4081_2455+4100dupTGTGTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	248	0.0040	20	c.116 others(39): Show c.1162-1665_1162-1646dupTCCTTCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218846	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp2 HG02723.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0068 a0001c0003 a0001c0068	a0001c0003t0005 a0001c0068t0003 a0001c0003t0005 a0001c0068t0003	a0001c0003t0005g0019 a0001c0068t0003g0007 a0001c0003t0005g0019 a0001c0068t0003g0007	2	248	0.0081	20	c.532 others(37): Show c.532-8066_532-8065insTCTTTTCTTTTCTTTTCTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244596	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0002 a0001c0052t0002	a0001c0052t0002g0068 a0001c0052t0002g0068	1	248	0.0040	20	c.306 others(37): Show c.306+2359_306+2378dupTTTCTTTCTTTCTTTCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01975.hp2 others(36): Show HG01243.hp1 HG01891.hp2 HG01975.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp1 NA18977.hp2 NA18979.hp2 NA19011.hp2 NA19043.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0017	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0042 a0001c0044 a0001c0045 a0001c0046 a0001c0067 a0001c0068 a0002c0004 a0002c0005 a0002c0015 a0002c0028 a0002c0059 a0002c0061 a0003c0008 a0003c0016 a0011c0056 a0017c0035	a0001c0001t0001 a0001c0002t0001 a0001c0003t0005 others(33): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0005 a0001c0007t0019 a0001c0009t0001 a0001c0009t0002 a0001c0010t0024 a0001c0011t0008 a0001c0013t0001 a0001c0013t0004 a0001c0013t0006 a0001c0023t0003 a0001c0024t0001 a0001c0025t0009 a0001c0026t0005 a0001c0042t0004 a0001c0044t0004 a0001c0045t0001 a0001c0046t0001 a0001c0067t0004 a0001c0068t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0010 a0002c0005t0002 a0002c0005t0013 a0002c0015t0001 a0002c0028t0005 a0002c0059t0006 a0002c0061t0003 a0003c0008t0001 a0003c0008t0002 a0003c0016t0008 a0011c0056t0009 a0017c0035t0003	a0001c0001t0001g0154 a0001c0001t0001g0220 a0001c0002t0001g0238 others(36): Show a0001c0001t0001g0154 a0001c0001t0001g0220 a0001c0002t0001g0238 a0001c0003t0005g0019 a0001c0007t0019g0026 a0001c0009t0001g0128 a0001c0009t0002g0021 a0001c0010t0024g0024 a0001c0011t0008g0244 a0001c0013t0001g0037 a0001c0013t0004g0012 a0001c0013t0006g0031 a0001c0023t0003g0073 a0001c0024t0001g0118 a0001c0025t0009g0121 a0001c0026t0005g0050 a0001c0026t0005g0133 a0001c0042t0004g0040 a0001c0044t0004g0117 a0001c0045t0001g0129 a0001c0046t0001g0078 a0001c0067t0004g0074 a0001c0068t0003g0007 a0002c0004t0001g0153 a0002c0004t0002g0051 a0002c0004t0003g0056 a0002c0004t0010g0122 a0002c0005t0002g0049 a0002c0005t0013g0060 a0002c0015t0001g0025 a0002c0028t0005g0059 a0002c0059t0006g0058 a0002c0061t0003g0055 a0003c0008t0001g0205 a0003c0008t0001g0208 a0003c0008t0002g0207 a0003c0016t0008g0245 a0011c0056t0009g0090 a0017c0035t0003g0148	39	248	0.1573	20	c.75- others(33): Show c.75-185_75-166dupTGTGTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95290103	A A	AATAGATA others(13): Show AATAGATAGATAGACAGATAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	248	0.0040	20	c.74+ others(37): Show c.74+11137_74+11138insCTATCTGTCTATCTATCTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC8_chr11_17387885_17481845	17467042	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0283 a0002c0005t0001g0283	1	330	0.0030	20	c.412 others(37): Show c.412+3039_412+3058dupTGTGTGTGTGTGTGTGTGTG	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	212	0.0047	20	c.816 others(35): Show c.816+153_816+154insAAAAAAAAAATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02027.hp1 HG02040.hp1 others(3): Show HG00323.hp1 HG02027.hp1 HG02040.hp1 NA18962.hp1 NA18964.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0051 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0005t0001g0006	6	212	0.0283	20	c.816 others(35): Show c.816+153_816+154insAAAAAAAAAAAATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp2 HG01346.hp1 others(3): Show HG00558.hp1 HG01261.hp2 HG01346.hp1 HG02040.hp2 NA18959.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0074 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103	6	212	0.0283	20	c.816 others(35): Show c.816+153_816+154insAAAAAAAAAAAAAATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03017.hp1 HG03492.hp2 others(4): Show HG01516.hp1 HG03017.hp1 HG03492.hp2 HG03704.hp1 NA18959.hp1 NA18962.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0010t0001g0054	7	212	0.0330	20	c.816 others(35): Show c.816+153_816+154insAAAAAAAAAAAAAAAATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	212	0.0047	20	c.816 others(35): Show c.816+153_816+154insAAAAAAAAAAAAAAAAAATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94502227	C C	CTTATTTT others(13): Show CTTATTTTTATCCTTCTCTCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	362	0.0028	20	c.174 others(39): Show c.1740+2616_1740+2635dupATTTTTATCCTTCTCTCATT	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCF2_chr7_151206484_151232205	151206719	A A	AAGATAGA others(13): Show AAGATAGATAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(112): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18972.hp1 NA18973.hp1 NA18986.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(26): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0039 a0001c0002t0040 a0001c0003t0002 a0001c0003t0036 a0001c0003t0037 a0001c0004t0004 a0001c0005t0005 a0001c0005t0049 a0001c0006t0010 a0001c0006t0013 a0001c0010t0005 a0002c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0014g0021 a0001c0001t0016g0037 a0001c0001t0016g0112 a0001c0001t0019g0036 a0001c0001t0022g0098 a0001c0001t0029g0093 a0001c0001t0031g0095 a0001c0001t0033g0097 a0001c0001t0034g0106 a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0014 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0006g0007 a0001c0002t0006g0051 a0001c0002t0007g0013 a0001c0002t0007g0084 a0001c0002t0008g0052 a0001c0002t0012g0020 a0001c0002t0012g0083 a0001c0002t0017g0113 a0001c0002t0020g0120 a0001c0002t0020g0124 a0001c0002t0022g0089 a0001c0002t0039g0121 a0001c0002t0040g0085 a0001c0003t0002g0002 a0001c0003t0002g0006 a0001c0003t0002g0017 a0001c0003t0002g0050 a0001c0003t0002g0055 a0001c0003t0002g0069 a0001c0003t0036g0062 a0001c0003t0037g0066 a0001c0004t0004g0005 a0001c0004t0004g0071 a0001c0005t0005g0008 a0001c0005t0049g0048 a0001c0006t0010g0072 a0001c0006t0010g0073 a0001c0006t0013g0031 a0001c0010t0005g0047 a0002c0007t0002g0011	115	390	0.2949	20	c.73 others(31): Show c.7334_*7335insATCTATCTATCTATCTATCT	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding		4764		chr7	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(13): Show GTTCCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp2 others(5): Show HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01517.hp1 HG02809.hp2 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0009 a0001c0001t0001g0046	8	416	0.0192	20	c.156 others(37): Show c.1569+486_1569+487insCCTTTTTTTTTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCG1_chr21_42214140_42302244	42268388	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03209.hp1 HG01261.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0265 a0001c0001t0004g0267	2	354	0.0057	20	c.287 others(37): Show c.287-2681_287-2680insTGTGTGTGTGTGTGTGTGCG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88098645	G G	GAGATAGA others(13): Show GAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00423.hp2 HG00544.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0243 a0002c0002t0002g0013 a0001c0001t0001g0243 a0002c0002t0002g0013	2	350	0.0057	20	c.149 others(37): Show c.1492+659_1492+678dupATCTATCTATCTATCTATCT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	12/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88098671	G G	GATAGATA others(13): Show GATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	350	0.0029	20	c.149 others(37): Show c.1492+652_1492+653insGTATCTATCTATCTATCTAT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	12/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0131 a0001c0001t0001g0151	2	350	0.0057	20	c.842 others(35): Show c.842-175_842-174insGAGACAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88137012	C C	CAATAAAA others(13): Show CAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00639.hp2 others(15): Show HG00323.hp1 HG00438.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG02015.hp1 HG02080.hp1 HG02293.hp1 HG02559.hp1 HG02602.hp2 HG03017.hp1 HG03239.hp1 NA18942.hp1 NA18963.hp2 NA18981.hp2 NA19079.hp1 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0007 a0003c0003t0001	a0001c0001t0001g0025 a0002c0002t0001g0055 a0002c0002t0001g0060 others(15): Show a0001c0001t0001g0025 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0002g0059 a0002c0002t0002g0249 a0002c0004t0001g0012 a0002c0004t0001g0208 a0002c0004t0007g0342 a0002c0004t0007g0344 a0003c0003t0001g0180 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0247 a0003c0003t0001g0292 a0003c0003t0001g0328	18	350	0.0514	20	c.203 others(37): Show c.203+2761_203+2780dupTTATTTTATTTTATTTTATT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02109.hp2 others(15): Show HG00735.hp2 HG01109.hp2 HG02109.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02965.hp1 HG03017.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03710.hp1 NA18966.hp1 NA18981.hp2 NA18995.hp2 NA19079.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0005t0001 a0002c0002t0001 a0002c0004t0007	a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0103 others(15): Show a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0144 a0001c0001t0001g0265 a0001c0001t0002g0081 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0006g0150 a0001c0005t0001g0079 a0002c0002t0001g0055 a0002c0004t0007g0342 a0002c0004t0007g0344	18	350	0.0514	20	c.-19 others(37): Show c.-19-7022_-19-7003dupTTTCTTTCTTTCTTTCTTTC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43856518	C C	CTCTCACT others(13): Show CTCTCACTTTCTGGATAGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG00642.hp2 HG01099.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0015 a0003c0017t0015	a0003c0017t0015g0014 a0003c0017t0015g0014	2	318	0.0063	20	c.964 others(37): Show c.964+3662_964+3681dupGGATAGAAATCTCACTTTCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43884376	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01361.hp2 others(27): Show HG00099.hp1 HG00438.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02300.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG04204.hp2 NA18948.hp1 NA18955.hp1 NA18974.hp1 NA18981.hp1 NA18998.hp2 NA19005.hp2 NA19009.hp1 NA19062.hp1 NA19066.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0018	a0001c0001 a0002c0003 a0003c0002 others(2): Show a0001c0001 a0002c0003 a0003c0002 a0006c0005 a0018c0019	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(16): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0035 a0001c0001t0072 a0001c0001t0077 a0002c0003t0003 a0002c0003t0016 a0002c0003t0027 a0002c0003t0048 a0002c0003t0113 a0003c0002t0003 a0003c0002t0009 a0003c0002t0021 a0003c0002t0081 a0006c0005t0003 a0006c0005t0027 a0006c0005t0118 a0018c0019t0122	a0001c0001t0004g0008 a0001c0001t0004g0083 a0001c0001t0004g0095 others(25): Show a0001c0001t0004g0008 a0001c0001t0004g0083 a0001c0001t0004g0095 a0001c0001t0004g0128 a0001c0001t0005g0075 a0001c0001t0009g0097 a0001c0001t0009g0114 a0001c0001t0035g0008 a0001c0001t0072g0096 a0001c0001t0077g0102 a0002c0003t0003g0196 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0016g0004 a0002c0003t0016g0239 a0002c0003t0016g0240 a0002c0003t0027g0235 a0002c0003t0048g0004 a0002c0003t0048g0236 a0002c0003t0113g0203 a0003c0002t0003g0205 a0003c0002t0009g0202 a0003c0002t0021g0165 a0003c0002t0081g0160 a0006c0005t0003g0023 a0006c0005t0027g0220 a0006c0005t0118g0221 a0018c0019t0122g0215	30	318	0.0943	20	c.64 others(31): Show c.6463_*6464insAAATAAATAAATAAATAAAT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		1389		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01975.hp2 HG02135.hp1 others(10): Show HG01928.hp1 HG01975.hp2 HG02135.hp1 HG02698.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18982.hp2 NA18986.hp2 NA19011.hp1 NA19012.hp2 NA19070.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0010c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0060 a0002c0003t0006 a0003c0002t0006 a0003c0002t0027 a0010c0013t0006	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0099 others(10): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0004g0083 a0001c0001t0018g0003 a0001c0001t0060g0087 a0002c0003t0006g0193 a0003c0002t0006g0224 a0003c0002t0027g0280 a0010c0013t0006g0168	13	318	0.0409	20	c.92 others(31): Show c.9230_*9231insAAAAAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870908	C C	CAAGAAAG others(13): Show CAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0089 a0002c0004t0002g0089	1	376	0.0027	20	c.-12 others(31): Show c.-1267_-1266insAAGAAAGAAAGAAAGAAAGA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1144		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG04199.hp1 HG02109.hp1 HG02809.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0003 a0002c0002t0002 a0001c0001t0001 a0001c0006t0003 a0002c0002t0002	a0001c0001t0001g0041 a0001c0006t0003g0198 a0002c0002t0002g0078 a0001c0001t0001g0041 a0001c0006t0003g0198 a0002c0002t0002g0078	3	376	0.0080	20	c.-11 others(31): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02970.hp2 NA18993.hp1 others(1): Show HG02922.hp1 HG02970.hp2 NA18993.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0001c0001t0001 a0001c0001t0003 a0002c0002t0005	a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0003g0191 others(1): Show a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0003g0191 a0002c0002t0005g0244	4	376	0.0106	20	c.-11 others(31): Show c.-1192_-1191insAAAGAAAGAAAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(13): Show GAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	376	0.0027	20	c.-11 others(31): Show c.-1192_-1191insAAAGAAAGAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar

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