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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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
ZNF846_chr19_9750357_9773738	9754563	T T	TCAAAAAA others(24): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0151 a0002c0002t0151	a0002c0002t0151g0220 a0002c0002t0151g0220	1	372	0.0027	31	c.29 others(42): Show c.2911_*2912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	ZNF846	ENSG00000196605.7	transcript	ENST00000397902.7	protein_coding		793		chr19	TogoVar
ZNF84_chr12_133032509_133068299	133034207	C C	CTCATATA others(24): Show CTCATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA19004.hp1 HG02976.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0107 a0001c0001t0014g0034 a0001c0001t0002g0107 a0001c0001t0014g0034	2	318	0.0063	31	c.-35 others(42): Show c.-3529_-3528insTCATATATATATATATATATATATATATATA	ZNF84	ENSG00000198040.11	transcript	ENST00000539354.6	protein_coding		3301		chr12	TogoVar
ZNF853_chr7_6610610_6629290	6613356	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0010 a0002c0003t0004g0010	1	422	0.0024	31	c.-28 others(42): Show c.-2819_-2818insATATATATATATATATATATATATATATATA	ZNF853	ENSG00000236609.4	transcript	ENST00000457543.4	protein_coding		2253		chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859067	A A	ACGTGCGT others(24): Show ACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03239.hp2 HG03490.hp2 others(1): Show HG01346.hp2 HG03239.hp2 HG03490.hp2 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0001c0007 a0014c0025 a0001c0002 a0001c0007 a0014c0025	a0001c0002t0001 a0001c0007t0006 a0014c0025t0004 a0001c0002t0001 a0001c0007t0006 a0014c0025t0004	a0001c0002t0001g0088 a0001c0002t0001g0163 a0001c0007t0006g0063 others(1): Show a0001c0002t0001g0088 a0001c0002t0001g0163 a0001c0007t0006g0063 a0014c0025t0004g0179	4	412	0.0097	31	c.111 others(48): Show c.1118-354_1118-353insGTGCGTGGGCCAGCTGTGGGGGCAGAGG GGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNG1B_chr2_113432691_113501204	113499643	G G	GCTCAGCG others(24): Show GCTCAGCGGCATCTGCGCCTTCATTAGTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0002 a0002c0002t0005g0002	1	276	0.0036	31	c.39 others(42): Show c.3900_*3901insCTCAGCGGCATCTGCGCCTTCATTAGTGGCC	ZNG1B	ENSG00000136682.16	transcript	ENST00000259199.9	protein_coding		3440		chr2	TogoVar
ZNHIT6_chr1_85644417_85713433	85667961	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	376	0.0027	31	c.124 others(50): Show c.1247+9274_1247+9275insATATATATTTTTTTTTTTTTTTTTTT TTTTT	ZNHIT6	ENSG00000117174.11	transcript	ENST00000370574.4	protein_coding	8/9			chr1	TogoVar
ZNHIT6_chr1_85644417_85713433	85667961	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATGTATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	376	0.0027	31	c.124 others(50): Show c.1247+9274_1247+9275insATATATACATTTTTTTTTTTTTTTTT TTTTT	ZNHIT6	ENSG00000117174.11	transcript	ENST00000370574.4	protein_coding	8/9			chr1	TogoVar
ZNHIT6_chr1_85644417_85713433	85667961	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02451.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	2	376	0.0053	31	c.124 others(50): Show c.1247+9274_1247+9275insATATATATATATATATATTTTTTTTT TTTTT	ZNHIT6	ENSG00000117174.11	transcript	ENST00000370574.4	protein_coding	8/9			chr1	TogoVar
ZNHIT6_chr1_85644417_85713433	85667961	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01496.hp1 others(5): Show HG01106.hp1 HG01175.hp2 HG01496.hp1 HG02083.hp2 HG02300.hp1 HG03017.hp2 NA19001.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0012 a0004c0005t0002 a0001c0001t0002 a0001c0001t0012 a0004c0005t0002	a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0075 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0012g0052 a0004c0005t0002g0033	8	376	0.0213	31	c.124 others(50): Show c.1247+9274_1247+9275insATATATATATATATACATTTTTTTTT TTTTT	ZNHIT6	ENSG00000117174.11	transcript	ENST00000370574.4	protein_coding	8/9			chr1	TogoVar
ZP3_chr7_76419950_76447069	76426874	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0372 a0003c0004t0001g0372	1	424	0.0024	31	c.312 others(48): Show c.312+1598_312+1599insACACACACACACACACACACACACACAC ACA	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding	1/7			chr7	TogoVar
ZPBP_chr7_49932441_50098246	49981396	T T	TTTATAAT others(24): Show TTTATAATTATATATATTTTATATTATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	278	0.0036	31	c.961 others(48): Show c.961+1945_961+1946insTATATATAATATAAAATATATATAATTA TAA	ZPBP	ENSG00000042813.8	transcript	ENST00000046087.7	protein_coding	7/7			chr7	TogoVar
ZPBP_chr7_49932441_50098246	49981686	A A	ATGATATA others(24): Show ATGATATATTATATAATATCTTGATATAAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	278	0.0036	31	c.961 others(48): Show c.961+1655_961+1656insATTTTATATCAAGATATTATATAATATA TCA	ZPBP	ENSG00000042813.8	transcript	ENST00000046087.7	protein_coding	7/7			chr7	TogoVar
ZRANB3_chr2_135191969_135536218	135245926	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03017.hp2 HG03139.hp2 others(2): Show HG01433.hp2 HG03017.hp2 HG03139.hp2 HG03834.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0023 a0001c0005t0004 a0001c0001t0001 a0001c0001t0023 a0001c0005t0004	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0156 a0001c0001t0023g0171 a0001c0005t0004g0089	5	214	0.0234	31	c.154 others(52): Show c.1540-15000_1540-14999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	12/20			chr2	TogoVar
ZRANB3_chr2_135191969_135536218	135272414	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18967.hp2 NA19001.hp2 others(1): Show HG03688.hp1 NA18967.hp2 NA19001.hp2 NA19007.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0040 a0003c0004t0002g0044 a0003c0004t0002g0049 others(1): Show a0003c0004t0002g0040 a0003c0004t0002g0044 a0003c0004t0002g0049 a0003c0004t0002g0052	4	214	0.0187	31	c.108 others(48): Show c.1087-528_1087-527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	9/20			chr2	TogoVar
ZSCAN21_chr7_100044774_100070040	100051178	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG00280.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0203 a0001c0001t0003g0204	2	392	0.0051	31	c.-97 others(48): Show c.-97+1362_-97+1363insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ZSCAN21	ENSG00000166529.16	transcript	ENST00000292450.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN21_chr7_100044774_100070040	100067037	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	392	0.0026	31	c.24 others(42): Show c.2420_*2421insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ZSCAN21	ENSG00000166529.16	transcript	ENST00000292450.9	protein_coding		1998		chr7	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	234	0.0043	31	c.143 others(50): Show c.1433-1352_1433-1351insATATATTTTTTTTTTTTTTTTTTTTT TTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM9_chr19_48165680_48202620	48187429	T T	TTATATAT others(24): Show TTATATATATTATATATTATATATTAATTATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19091.hp2 NA19083.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0001g0152 a0001c0001t0001g0180	2	388	0.0052	31	c.588 others(48): Show c.588+4667_588+4668insATATTATATATTATATATTAATTATATA TAT	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSWIM9_chr19_48165680_48202620	48187587	A A	ATATAATA others(24): Show ATATAATATAATATTATATATTATATTAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG03209.hp1 HG02572.hp2 HG02723.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0230 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0230	3	388	0.0077	31	c.588 others(48): Show c.588+4829_588+4859dupAATATTATATATTATATTAATATTATAA TAT	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZXDA_chrX_57900430_57915458	57904931	A A	ATATTATA others(24): Show ATATTATATATTATATATAAATATAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02630.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG02630.hp1 HG03486.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0000 a0008c0010t0006g0000	4	320	0.0125	31	c.30 others(42): Show c.3089_*3090insATATTTTTATATTTATATATAATATATAATA	ZXDA	ENSG00000198205.7	transcript	ENST00000358697.6	protein_coding		498		chrX	TogoVar
ZYG11B_chr1_52721453_52832336	52773627	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	352	0.0028	31	c.951 others(48): Show c.951+1854_951+1855insATATATATATATATATATATATATATAT ATT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	352	0.0028	31	c.952 others(48): Show c.952-3623_952-3622insAAAAAAAAAAAAAAAAAAATATATATAT ATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG01928.hp1 others(3): Show HG00597.hp1 HG01071.hp2 HG01928.hp1 HG01993.hp1 HG02683.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0007g0108 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0007g0108 a0001c0001t0007g0112 a0001c0001t0007g0114 a0001c0001t0007g0115	6	352	0.0171	31	c.952 others(48): Show c.952-3623_952-3622insAAAAAAAAAAAAAAAAATATATATATAT ATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04228.hp1 HG01978.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0069 a0001c0001t0001 a0001c0001t0069	a0001c0001t0001g0257 a0001c0001t0069g0263 a0001c0001t0001g0257 a0001c0001t0069g0263	2	352	0.0057	31	c.952 others(48): Show c.952-3623_952-3622insAAAAAAAAAAAAAAATATATATATATAT ATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0160 a0001c0001t0061g0160	1	352	0.0028	31	c.952 others(48): Show c.952-3623_952-3622insAAAAAAATATATATATATATATATATAT ATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	352	0.0028	31	c.952 others(48): Show c.952-3623_952-3622insAAAAATATATATATATATATATATATAT ATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0229 a0001c0002t0003g0229	1	352	0.0028	31	c.952 others(48): Show c.952-3623_952-3622insAAATATATATATATATATATATATATAT ATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52793901	T T	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02647.hp2 HG00639.hp2 HG02280.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0187 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0187	3	352	0.0085	31	c.133 others(50): Show c.1335-2390_1335-2389insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 5228 hits)