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
ANTXR2_chr4_79896146_80078229	79926893	G G	GTATATAC others(19): Show GTATATACACGTGTGCATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp2 HG02015.hp1 others(9): Show HG00099.hp1 HG01346.hp2 HG02015.hp1 HG02258.hp2 HG02615.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 others(4): Show a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0048 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074	a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0021g0129 others(9): Show a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0021g0129 a0001c0001t0024g0206 a0001c0001t0024g0227 a0001c0001t0024g0245 a0001c0001t0032g0256 a0001c0001t0032g0257 a0001c0001t0048g0166 a0001c0001t0069g0204 a0001c0001t0071g0254 a0001c0001t0074g0228	12	268	0.0448	26	c.142 others(47): Show c.1429-19427_1429-19426insTACACATATATGCACACGTGTATA TA	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79926976	T T	TACACATG others(19): Show TACACATGTGCATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19030.hp1 HG02896.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0101 a0001c0001t0005g0102	2	268	0.0075	26	c.142 others(47): Show c.1429-19510_1429-19509insGTATATATACACATATGCACATGT GT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02572.hp2 others(8): Show HG01891.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0209 a0001c0001t0001g0210 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0003t0001g0238 a0003c0004t0001g0220 a0003c0004t0001g0223	11	284	0.0387	26	c.18+ others(41): Show c.18+4211_18+4212insATATATATATATATATATATATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATATATGT others(19): Show ATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01081.hp2 others(9): Show HG00140.hp1 HG00438.hp2 HG01081.hp2 HG03704.hp1 NA18906.hp2 NA18939.hp2 NA18968.hp1 NA18995.hp1 NA19060.hp1 NA19078.hp2 NA19081.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0112 others(9): Show a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0003t0001g0250 a0001c0008t0001g0247 a0001c0008t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0254 a0003c0004t0001g0096	12	284	0.0423	26	c.18+ others(41): Show c.18+4211_18+4212insATGTATATATATATATATATATGTAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATATGTAT others(19): Show ATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	284	0.0035	26	c.18+ others(41): Show c.18+4215_18+4216insATATATATATATATATATGTATGTAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATGTATGT others(19): Show ATGTATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	284	0.0035	26	c.18+ others(41): Show c.18+4209_18+4210insGTATGTATATATATATATATATATGT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA11_chr10_80145889_80210537	80188511	A A	ATATATAT others(19): Show ATATATATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0218 a0001c0001t0031g0218	1	386	0.0026	26	c.-57 others(45): Show c.-57-12357_-57-12356insCATGTATATATATATATATATATATA	ANXA11	ENSG00000122359.18	transcript	ENST00000422982.8	protein_coding	1/15			chr10	TogoVar
ANXA11_chr10_80145889_80210537	80188511	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02273.hp1 HG02015.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0011 a0001c0001t0015	a0001c0001t0011g0310 a0001c0001t0015g0036 a0001c0001t0011g0310 a0001c0001t0015g0036	2	386	0.0052	26	c.-57 others(45): Show c.-57-12357_-57-12356insCATATATATATATATATATATATATA	ANXA11	ENSG00000122359.18	transcript	ENST00000422982.8	protein_coding	1/15			chr10	TogoVar
ANXA2R_chr5_43034371_43045319	43036636	C C	CACACACA others(19): Show CACACACACACACACACACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	26	c.28 others(37): Show c.2828_*2829insATGTATGTGTGTGTGTGTGTGTGTGT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		2734		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60398993	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01168.hp1 others(6): Show HG00558.hp1 HG00642.hp1 HG01168.hp1 HG01433.hp2 HG02615.hp2 HG03516.hp1 HG04115.hp1 NA18941.hp2 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0214 a0001c0001t0001g0269 a0001c0001t0001g0270 others(6): Show a0001c0001t0001g0214 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0322 a0002c0002t0006g0326	9	334	0.0270	26	c.-10 others(37): Show c.-1088_-1063dupTCTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1008		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA18945.hp2 NA18956.hp2 HG03669.hp2 NA18945.hp2 NA18956.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0073 a0001c0001t0001g0101 a0006c0007t0001g0077 a0001c0001t0001g0073 a0001c0001t0001g0101 a0006c0007t0001g0077	3	334	0.0090	26	c.-10 others(37): Show c.-1091_-1090insACTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02083.hp1 HG02083.hp2 others(11): Show HG01123.hp1 HG02083.hp1 HG02083.hp2 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG03486.hp2 HG03492.hp2 HG03710.hp2 HG04199.hp2 NA18940.hp2 NA18960.hp1 NA19072.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0123 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0005g0225	14	334	0.0419	26	c.-10 others(37): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA3_chr4_78546770_78615447	78578298	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0263 a0001c0001t0005g0263	1	330	0.0030	26	c.104 others(41): Show c.104-722_104-697dupGAGAGAGAGAGAGAGAGAGAGAGAGA	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA6_chr5_151095706_151162779	151140594	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02055.hp1 HG01516.hp1 HG01517.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0017 a0001c0001t0002g0004 a0001c0001t0003g0017	3	408	0.0074	26	c.19- others(39): Show c.19-352_19-351insAATATATATATATATATATATATATA	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTTTCTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01071.hp2 others(18): Show HG00423.hp1 HG00621.hp1 HG01071.hp2 HG01192.hp1 HG01943.hp1 HG02155.hp1 HG02155.hp2 HG02698.hp1 HG02698.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03831.hp2 NA18960.hp1 NA18966.hp2 NA18969.hp1 NA18977.hp2 NA18984.hp1 NA19054.hp2 NA19084.hp1 NA20300.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0001c0014 a0002c0002 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0009t0001 a0001c0014t0001 a0002c0002t0001 a0009c0017t0001	a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0072 others(18): Show a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0003g0024 a0001c0003t0001g0264 a0001c0003t0001g0276 a0001c0003t0001g0283 a0001c0003t0001g0288 a0001c0009t0001g0125 a0001c0014t0001g0248 a0002c0002t0001g0170 a0002c0002t0001g0202 a0002c0002t0001g0231 a0002c0002t0001g0242 a0002c0002t0001g0245 a0009c0017t0001g0074	21	306	0.0686	26	c.160 others(45): Show c.1600-3835_1600-3834insAAGAGAAAAAGAAAGAAAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36678600	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	306	0.0033	26	c.224 others(43): Show c.224-4592_224-4591insGCGCACACACACACACACACACACAC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOC2_chr17_42839580_42855707	42848065	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	290	0.0035	26	c.158 others(44): Show c.1589-1020_1589-995dupTTTTTTTTTTTTTTTTTTTTTTTTTT	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC2_chr17_42839580_42855707	42848544	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	290	0.0035	26	c.158 others(43): Show c.1589-541_1589-540insTATATATATATATATATATATATACA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848065	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	284	0.0035	26	c.-32 others(37): Show c.-3279_-3278insTTTTTTTTTTTTTTTTTTTTTTTTTT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		3133		chr17	TogoVar
AOC3_chr17_42846199_42863124	42848544	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0016 a0001c0010t0004g0016	1	284	0.0035	26	c.-28 others(37): Show c.-2800_-2799insATATATATATATATATATATATATAC	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2654		chr17	TogoVar
AOPEP_chr9_94721699_95092159	94728239	G G	GCGCGCGC others(19): Show GCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	182	0.0055	26	c.-13 others(45): Show c.-136+1489_-136+1490insGCGCGCGCACACACACACACACACAC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94728239	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0144 a0009c0010t0001g0145 a0009c0010t0001g0144 a0009c0010t0001g0145	2	182	0.0110	26	c.-13 others(45): Show c.-136+1489_-136+1490insGCGCGCGCGCGCACACACACACACAC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0276 a0003c0003t0004g0276	1	370	0.0027	26	c.317 others(43): Show c.3171+229_3171+230insAAAAAAAAAAAAAAAATATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19007.hp1 NA18977.hp2 NA19007.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0305 a0004c0004t0001g0327 a0004c0004t0001g0305 a0004c0004t0001g0327	2	370	0.0054	26	c.317 others(43): Show c.3171+229_3171+230insAAAAAAAAAAAATATATATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00408.hp2 HG00642.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0028 a0004c0004 a0009c0028	a0004c0004t0001 a0009c0028t0001 a0004c0004t0001 a0009c0028t0001	a0004c0004t0001g0302 a0009c0028t0001g0313 a0004c0004t0001g0302 a0009c0028t0001g0313	2	370	0.0054	26	c.317 others(43): Show c.3171+229_3171+230insAAAAAAAAAATATATATATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0215 a0014c0024t0001g0215	1	370	0.0027	26	c.317 others(43): Show c.3171+254_3171+255insATATATATATATATATTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0002 a0003c0030t0002	a0003c0030t0002g0218 a0003c0030t0002g0218	1	370	0.0027	26	c.317 others(43): Show c.3171+254_3171+255insATATATATATATTTTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M1_chr19_16192911_16250906	16250292	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	308	0.0033	26	c.15 others(39): Show c.15857_*15858insTGTGTGTGTGTGTGTGTGTGTGTGTG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4387		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	394	0.0025	26	c.25 others(37): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585295	G G	GAAGGAAA others(19): Show GAAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	394	0.0025	26	c.43- others(41): Show c.43-1226_43-1225insTTCTTTCTTTCTTTCTTTCTTTCCTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	268	0.0037	26	c.67+ others(41): Show c.67+9537_67+9538insTTTTTTTTTTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3B1_chr5_77997326_78299698	78057678	G G	GATTTACT others(19): Show GATTTACTTAAATCACAGTAAATCATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	226	0.0044	26	c.257 others(47): Show c.2578-18430_2578-18405dupAATGATTTACTGTGATTTAAGTAA AT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3S1_chr5_115836935_115919081	115868982	G G	GGAGGGAG others(19): Show GGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02818.hp2 HG02486.hp1 HG02559.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214	3	378	0.0079	26	c.162 others(43): Show c.162-1032_162-1031insGGAGGGAGGGAGGGAGGGAGGGAGAG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCCCACAC others(19): Show CCCCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA18979.hp1 HG01167.hp2 HG01169.hp1 NA18979.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0010 a0002c0003t0003 a0002c0003t0010	a0002c0003t0003g0031 a0002c0003t0010g0032 a0002c0003t0010g0034 a0002c0003t0003g0031 a0002c0003t0010g0032 a0002c0003t0010g0034	3	392	0.0077	26	c.185 others(45): Show c.1852-3307_1852-3306insCCACACACACACACACACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31096670	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0229 a0001c0001t0049g0229	1	346	0.0029	26	c.36 others(37): Show c.3635_*3636insATATATATATATATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		221		chr14	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19090.hp1 HG03688.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0133 a0001c0001t0004g0189 a0001c0001t0003g0133 a0001c0001t0004g0189	2	366	0.0055	26	c.956 others(41): Show c.956-274_956-273insATATATATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707692	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	366	0.0027	26	c.272 others(43): Show c.2722-873_2722-872insTATATATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69523477	G G	GTATATAT others(19): Show GTATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	210	0.0048	26	c.-69 others(43): Show c.-69-6199_-69-6198insTATACATATATATATATATATATATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636828	A A	AGGGAGGG others(19): Show AGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02683.hp1 HG01433.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0185 a0001c0001t0002g0041 a0001c0001t0002g0185	2	210	0.0095	26	c.-70 others(45): Show c.-70+35324_-70+35325insCCTCCCTCCCTCCCTCCCTCCCTCCC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658264	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	210	0.0048	26	c.-70 others(45): Show c.-70+13888_-70+13889insAAGAAAGAAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658294	T T	TTTTCTTT others(19): Show TTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18964.hp2 HG03195.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0065 a0002c0002t0003g0198 a0001c0001t0002g0065 a0002c0002t0003g0198	2	210	0.0095	26	c.-70 others(45): Show c.-70+13858_-70+13859insGAGAAAGAAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01258.hp1 HG00544.hp1 HG00597.hp2 HG01258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0019 a0002c0002t0004 a0001c0001t0003 a0001c0001t0019 a0002c0002t0004	a0001c0001t0003g0142 a0001c0001t0019g0179 a0002c0002t0004g0013 a0001c0001t0003g0142 a0001c0001t0019g0179 a0002c0002t0004g0013	3	204	0.0147	26	c.-94 others(43): Show c.-94-8027_-94-8026insTATATATATATATATATATATATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01981.hp2 others(5): Show HG00597.hp2 HG00609.hp1 HG01981.hp2 HG02055.hp1 HG02615.hp1 HG02622.hp2 NA18522.hp2 NA19005.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0005 a0001c0001 a0002c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0006t0002 a0004c0005t0002	a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0182 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0182 a0001c0001t0001g0221 a0001c0001t0002g0272 a0002c0006t0002g0307 a0002c0006t0002g0308 a0004c0005t0002g0306	8	358	0.0224	26	c.814 others(43): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp2 HG01516.hp1 others(7): Show HG01099.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02004.hp1 HG02257.hp1 HG02970.hp2 HG03471.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0003t0026 a0002c0001t0013	a0001c0002t0001g0060 a0001c0002t0002g0084 a0001c0002t0003g0183 others(7): Show a0001c0002t0001g0060 a0001c0002t0002g0084 a0001c0002t0003g0183 a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0003t0001g0159 a0001c0003t0001g0164 a0001c0003t0026g0019 a0002c0001t0013g0023	10	192	0.0521	26	c.836 others(45): Show c.836-19681_836-19680insGTGTGTGTGTGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(19): Show CCGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0058 a0004c0011t0004g0058	1	350	0.0029	26	c.120 others(41): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG03540.hp2 NA19079.hp2 HG02027.hp2 HG03540.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	3	318	0.0094	26	c.-13 others(37): Show c.-1315_-1314insTTTTTTTTTTTTTTTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APELA_chr4_164872178_164902527	164899722	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0200 a0001c0001t0021g0200	1	434	0.0023	26	c.43 others(37): Show c.4308_*4309insAAAGAAAGAAAGAAAGAAAGAAAGAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		2196		chr4	TogoVar
API5_chr11_43306996_43349529	43310743	A A	AATTATCT others(19): Show AATTATCTTAATATATAAATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03486.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	384	0.0052	26	c.-13 others(37): Show c.-1385_-1384insATTATCTTAATATATAAATATATATT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1252		chr11	TogoVar
APLF_chr2_68462585_68585162	68518611	T T	TAATATAT others(19): Show TAATATATCATGAATATATAATATGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0003 a0002c0002t0009g0003	2	176	0.0114	26	c.622 others(43): Show c.622+4953_622+4954insTGTCAATATATCATGAATATATAATA	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68518637	T T	TATCAATA others(19): Show TATCAATATATCATGAATATATAATAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0009 a0010c0014t0009	a0010c0014t0009g0028 a0010c0014t0009g0028	1	176	0.0057	26	c.622 others(43): Show c.622+4961_622+4962insATATATCATGAATATATAATAAATCA	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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