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
ABCB1_chr7_87498017_87605884	87589805	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	352	0.0028	30	c.118 others(47): Show c.118-4155_118-4126dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(23): Show TAAATAAAATAAGATAAAATAAGATAAAATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02258.hp1 HG02559.hp1 others(9): Show HG00597.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA18957.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0002c0023 others(1): Show a0001c0002 a0001c0006 a0002c0023 a0003c0022	a0001c0002t0001 a0001c0006t0001 a0002c0023t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0002c0023t0001 a0003c0022t0001	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0006t0001g0022 others(8): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0006t0001g0022 a0001c0006t0001g0243 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0006t0001g0246 a0001c0006t0001g0247 a0001c0006t0001g0249 a0002c0023t0001g0250 a0003c0022t0001g0248	12	290	0.0414	30	c.135 others(47): Show c.135+3679_135+3680insTATTTTATCTTATTTTATCTTATTTTAT TT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711778	C C	CTCTCTCT others(23): Show CTCTCTCTCTTTCTTTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0323 a0003c0002t0002g0323	1	360	0.0028	30	c.242 others(49): Show c.2421+6974_2421+6975insCTCTCTTTCTTTCTCTCTCTCTCTCT TTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	232	0.0043	30	c.334 others(47): Show c.334-5016_334-4987dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC11_chr16_48160773_48252539	48226072	C C	CATTATTA others(23): Show CATTATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0018 a0003c0018t0018	a0003c0018t0018g0132 a0003c0018t0018g0132	1	158	0.0063	30	c.396 others(47): Show c.396-1644_396-1643insAATAATAATAATAATAATAATAATAATA AT	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	4/29			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0004 a0001c0008t0009g0004	1	249	0.0040	30	c.-50 others(41): Show c.-5035_-5034insTGTGTGTGTGTATATATATATATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15949611	G G	GCGCCGCC others(23): Show GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01981.hp2 HG00642.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0004 a0001c0030t0001 a0001c0002t0004 a0001c0030t0001	a0001c0002t0004g0192 a0001c0030t0001g0181 a0001c0002t0004g0192 a0001c0030t0001g0181	2	249	0.0080	30	c.-14 others(39): Show c.-141_-140insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0095 a0001c0005t0005g0095	1	249	0.0040	30	c.49- others(45): Show c.49-7979_49-7978insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG02895.hp2 others(1): Show HG00639.hp1 HG02451.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0016 a0001c0002t0006 a0001c0012t0011 a0001c0001t0016 a0001c0002t0006 a0001c0012t0011	a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0002t0006g0108 others(1): Show a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0002t0006g0108 a0001c0012t0011g0081	4	249	0.0161	30	c.359 others(47): Show c.3591-440_3591-439insTGTGTATGTGTGTGTATGTGTGTGTGTG TG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG02258.hp1 others(3): Show HG01496.hp1 HG02145.hp1 HG02258.hp1 HG02723.hp1 HG02965.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0026 others(2): Show a0001c0001 a0001c0007 a0004c0026 a0004c0038 a0004c0039	a0001c0001t0001 a0001c0001t0008 a0001c0007t0008 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0008 a0004c0026t0006 a0004c0038t0006 a0004c0039t0006	a0001c0001t0001g0017 a0001c0001t0008g0002 a0001c0007t0008g0115 others(3): Show a0001c0001t0001g0017 a0001c0001t0008g0002 a0001c0007t0008g0115 a0004c0026t0006g0231 a0004c0038t0006g0092 a0004c0039t0006g0217	6	249	0.0241	30	c.359 others(47): Show c.3591-440_3591-439insTGTGTGTGTGTGTGTATGTGTGTGTGTG TG	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0007 a0002c0011t0007	a0002c0011t0007g0052 a0002c0011t0007g0052	1	249	0.0040	30	c.22 others(41): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778433	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGACAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	336	0.0030	30	c.-44 others(41): Show c.-4412_-4411insATATAGAGAGAGAGAGACAGAGAGAGAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4206		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778445	G G	GAGAGACA others(23): Show GAGAGACAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	336	0.0030	30	c.-44 others(41): Show c.-4400_-4399insAGAGACAGAGAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4194		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778447	G G	GAGACAGA others(23): Show GAGACAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0218 a0009c0012t0001g0218	1	336	0.0030	30	c.-43 others(41): Show c.-4398_-4397insAGACAGAGAGAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4192		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	336	0.0030	30	c.-43 others(41): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAAAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02083.hp1 HG02015.hp2 HG02083.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0025c0031 a0001c0001 a0025c0031	a0001c0001t0001 a0025c0031t0001 a0001c0001t0001 a0025c0031t0001	a0001c0001t0001g0198 a0025c0031t0001g0143 a0001c0001t0001g0198 a0025c0031t0001g0143	2	336	0.0060	30	c.-43 others(41): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814077	G G	GTATGTGT others(23): Show GTATGTGTATATACACATATATATACACATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG03139.hp1 others(3): Show HG02818.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp1	a0001 a0026 a0001 a0026	a0001c0002 a0001c0014 a0026c0032 a0001c0002 a0001c0014 a0026c0032	a0001c0002t0003 a0001c0002t0007 a0001c0014t0001 others(1): Show a0001c0002t0003 a0001c0002t0007 a0001c0014t0001 a0026c0032t0001	a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0007g0126 others(3): Show a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0007g0126 a0001c0002t0007g0129 a0001c0014t0001g0128 a0026c0032t0001g0127	6	336	0.0179	30	c.209 others(47): Show c.2094+961_2094+962insTATATGTGTATATACACATATATATACA CA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814309	G G	GTATATAC others(23): Show GTATATACACACGTATGTATACACACATGTA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	336	0.0030	30	c.209 others(49): Show c.2094+1206_2094+1235dupCGTATGTATACACACATGTATATATA CACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814622	T T	TACACACA others(23): Show TACACACACATATGTGTATATACACATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG02896.hp2 others(3): Show HG02109.hp1 HG02886.hp1 HG02896.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0014 a0004c0006 a0001c0002 a0001c0014 a0004c0006	a0001c0002t0003 a0001c0014t0001 a0004c0006t0001 a0001c0002t0003 a0001c0014t0001 a0004c0006t0001	a0001c0002t0003g0039 a0001c0002t0003g0166 a0001c0014t0001g0021 others(3): Show a0001c0002t0003g0039 a0001c0002t0003g0166 a0001c0014t0001g0021 a0004c0006t0001g0020 a0004c0006t0001g0079 a0004c0006t0001g0088	6	336	0.0179	30	c.209 others(49): Show c.2094+1485_2094+1486insCATATGTGTATATACACATATACACA CACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814743	A A	ATGTATGT others(23): Show ATGTATGTATATACACACACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	336	0.0060	30	c.209 others(49): Show c.2094+1620_2094+1649dupTATATGTGTGTGTATGTATATACACA CACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673958	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19009.hp1 NA18983.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0010 a0001c0001t0001g0024	2	342	0.0059	30	c.259 others(47): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTTCTTT CT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674002	C C	CCTTCCTT others(23): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0069 a0007c0012t0003g0069	1	342	0.0029	30	c.259 others(47): Show c.2599+344_2599+345insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	342	0.0029	30	c.259 others(47): Show c.2599+379_2599+380insCTCTCTCTCTTTCTTTCTTTCTTTCTTT CT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTCTCT others(23): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01993.hp1 HG02300.hp1 HG01517.hp1 HG01993.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0077 a0001c0001t0001g0179 a0001c0026t0001g0148 a0001c0001t0001g0077 a0001c0001t0001g0179 a0001c0026t0001g0148	3	342	0.0088	30	c.259 others(47): Show c.2599+379_2599+380insCTCTCTTTCTTTCTTTCTTTCTTTCTTT CT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTCTTT others(23): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	342	0.0029	30	c.259 others(47): Show c.2599+379_2599+380insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20300.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0010t0004 a0001c0003t0001 a0001c0010t0004	a0001c0003t0001g0036 a0001c0010t0004g0119 a0001c0003t0001g0036 a0001c0010t0004g0119	2	248	0.0081	30	c.75- others(43): Show c.75-166_75-165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95248566	T T	TATTAATC others(23): Show TATTAATCATTAAATGATAATAATTAACATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20752.hp1 HG01255.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0002 a0001c0010t0007 a0001c0003t0002 a0001c0010t0007	a0001c0003t0002g0179 a0001c0010t0007g0167 a0001c0003t0002g0179 a0001c0010t0007g0167	2	248	0.0081	30	c.75- others(43): Show c.75-843_75-814dupGATGTTAATTATTATCATTTAATGATTAAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02717.hp2 HG02922.hp1 others(11): Show HG01255.hp2 HG02717.hp2 HG02922.hp1 HG03239.hp1 HG03453.hp2 HG03704.hp1 NA18945.hp1 NA18945.hp2 NA18956.hp1 NA19005.hp2 NA19064.hp1 NA19074.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0200 a0001c0001t0001g0277 a0001c0005t0001g0100 others(10): Show a0001c0001t0001g0200 a0001c0001t0001g0277 a0001c0005t0001g0100 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0002g0001 a0003c0003t0001g0178 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0284 a0003c0003t0001g0289 a0003c0003t0001g0309 a0003c0003t0001g0315	14	350	0.0400	30	c.842 others(45): Show c.842-175_842-174insGAGAGAGAGAGAGACAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	350	0.0029	30	c.842 others(45): Show c.842-199_842-198insTATATATATAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	350	0.0029	30	c.842 others(45): Show c.842-199_842-198insTATATATAGAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02109.hp1 others(1): Show HG02015.hp1 HG02080.hp1 HG02109.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0027 a0001c0001t0001g0321 a0002c0002t0002g0059 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0321 a0002c0002t0002g0059 a0002c0002t0002g0249	4	350	0.0114	30	c.842 others(45): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	350	0.0029	30	c.842 others(45): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88137012	C C	CAATAAAA others(23): Show CAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp2 HG01928.hp1 others(11): Show HG00544.hp1 HG01255.hp2 HG01928.hp1 HG01943.hp1 HG02040.hp2 HG02132.hp1 HG03927.hp1 NA18968.hp2 NA18969.hp1 NA18986.hp1 NA19063.hp2 NA19064.hp1 NA19078.hp1 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003	a0002c0002t0001g0065 a0002c0002t0002g0069 a0003c0003t0001g0182 others(11): Show a0002c0002t0001g0065 a0002c0002t0002g0069 a0003c0003t0001g0182 a0003c0003t0001g0285 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0311 a0003c0003t0001g0315 a0003c0003t0003g0310	14	350	0.0400	30	c.203 others(47): Show c.203+2751_203+2780dupTTATTTTATTTTATTTTATTTTATTTTA TT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0111 a0001c0001t0033g0111	1	318	0.0031	30	c.92 others(41): Show c.9230_*9231insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870945	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA18950.hp2 NA18966.hp1 HG02273.hp2 NA18950.hp2 NA18966.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0006 a0002c0004 a0005c0008 a0001c0006 a0002c0004 a0005c0008	a0001c0006t0001 a0002c0004t0002 a0005c0008t0002 a0001c0006t0001 a0002c0004t0002 a0005c0008t0002	a0001c0006t0001g0278 a0002c0004t0002g0279 a0005c0008t0002g0151 a0001c0006t0001g0278 a0002c0004t0002g0279 a0005c0008t0002g0151	3	376	0.0080	30	c.-12 others(41): Show c.-1230_-1229insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1107		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870987	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	376	0.0027	30	c.-11 others(41): Show c.-1188_-1187insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1065		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870991	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA19003.hp2 HG02080.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0194 a0002c0002t0002g0065 a0001c0001t0001g0194 a0002c0002t0002g0065	2	376	0.0053	30	c.-11 others(41): Show c.-1184_-1183insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1061		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870995	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG02572.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0012 a0002c0004 a0003c0012	a0002c0004t0006 a0003c0012t0001 a0002c0004t0006 a0003c0012t0001	a0002c0004t0006g0023 a0003c0012t0001g0131 a0002c0004t0006g0023 a0003c0012t0001g0131	2	376	0.0053	30	c.-11 others(41): Show c.-1180_-1179insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1057		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	316	0.0032	30	c.422 others(45): Show c.422+943_422+944insAAAAAATATATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01516.hp2 others(1): Show HG01257.hp1 HG01258.hp1 HG01516.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0020 a0001c0001t0001g0186 a0001c0001t0008g0175 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0186 a0001c0001t0008g0175 a0001c0001t0008g0222	4	360	0.0111	30	c.590 others(47): Show c.590+9319_590+9348dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD3_chr18_21645901_21709774	21700827	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	304	0.0033	30	c.509 others(47): Show c.509+1488_509+1489insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	3/8			chr18	TogoVar
ABHD3_chr18_21645901_21709774	21704716	C C	CGAGCGGG others(23): Show CGAGCGGGCGAGAGCGGGCGAGAGCGGGCGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01975.hp1 HG02257.hp2 HG02451.hp1 others(7): Show HG01975.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02976.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0005 a0001c0001t0010 a0002c0007t0005 a0001c0001t0005 a0001c0001t0010 a0002c0007t0005	a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 others(7): Show a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0010g0274 a0001c0001t0010g0275 a0002c0007t0005g0281	10	304	0.0329	30	c.-52 others(37): Show c.-52_-51insTCGCCCGCTCTCGCCCGCTCTCGCCCGCTC	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	1/9	52		chr18	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(23): Show GCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	302	0.0033	30	c.837 others(47): Show c.837+1395_837+1396insCATATATATATATATATATATATATATA TA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	358	0.0028	30	c.463 others(47): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338949	T T	TATATATA others(23): Show TATATATATATAAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0122 a0001c0001t0020g0122	1	320	0.0031	30	c.117 others(49): Show c.117+10329_117+10330insAATATATATATATATATAAATATATA TATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0048 a0003c0003t0003g0048	1	238	0.0042	30	c.80- others(47): Show c.80-14349_80-14348insCTATATATATATATATATATATATATAT AT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABL1_chr9_130830254_130892675	130877560	A A	AGGGGGGG others(23): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	278	0.0036	30	c.127 others(47): Show c.1271-852_1271-851insGGGGGGGGGGGGGGGGGGGGGGGGGGCG GG	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABLIM1_chr10_114426112_114663275	114448604	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0011 a0001c0004t0011g0011	1	256	0.0039	30	c.159 others(47): Show c.1595-585_1595-584insTAATAATAATAATAATAATAATAATAAT AA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	14/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18952.hp2 HG00738.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0008 a0001c0001t0015 a0001c0002t0008	a0001c0001t0015g0094 a0001c0002t0008g0117 a0001c0001t0015g0094 a0001c0002t0008g0117	2	256	0.0078	30	c.982 others(45): Show c.982+778_982+779insTATATATATATATATATATATATACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01255.hp1 HG01993.hp1 others(3): Show HG00673.hp1 HG01255.hp1 HG01993.hp1 HG02083.hp2 NA18966.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0079 a0001c0002t0135 others(3): Show a0001c0002t0002 a0001c0002t0079 a0001c0002t0135 a0001c0003t0015 a0001c0003t0101 a0001c0003t0131	a0001c0002t0002g0238 a0001c0002t0079g0225 a0001c0002t0135g0236 others(3): Show a0001c0002t0002g0238 a0001c0002t0079g0225 a0001c0002t0135g0236 a0001c0003t0015g0199 a0001c0003t0101g0194 a0001c0003t0131g0172	6	256	0.0234	30	c.982 others(45): Show c.982+778_982+779insTATATATATATATATATATACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar

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