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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDYL2_chr16_80592907_80809598	80751036	T T	TCAAACTT others(27): Show TCAAACTTTCAAAAGATAATGTAAAAGCTGCTCAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	258	0.0039	34	c.24+ others(51): Show c.24+53080_24+53113dupTTGAGCAGCTTTTACATTATCTTTTGAA AGTTTG		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6						chr16	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03516.hp1 HG02897.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0169 a0002c0003t0002g0171 a0002c0003t0002g0169 a0002c0003t0002g0171	2	290	0.0069	34	c.124 others(53): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATATAT ATATATAT		CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518118	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	438	0.0023	34	c.103 others(51): Show c.1031-895_1031-894insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	314	0.0032	34	c.41 others(49): Show c.41-568_*41-567insATATATATATATATATATATATATATATTT TTTT		CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5						chr19	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0026 a0004c0004t0026	a0004c0004t0026g0267 a0004c0004t0026g0267	1	324	0.0031	34	c.110 others(51): Show c.1108+139_1108+140insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11107855	A A	ATCCCTTC others(27): Show ATCCCTTCTCCCATCTCCTCCCTTCTCCCATCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0064 a0001c0003t0005g0064	1	194	0.0052	34	c.75- others(51): Show c.75-57623_75-57622insCCCATCTCCTCCCTTCTCCCATCTCCTC CCTTCT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107864	A A	ACCATCTC others(27): Show ACCATCTCCTCCCTTCTCCCATCTCCTCCCTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02486.hp1 others(1): Show HG02055.hp1 HG02145.hp1 HG02486.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0021 a0001c0002t0001 a0001c0002t0023 others(1): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0023 a0001c0003t0009	a0001c0001t0021g0089 a0001c0002t0001g0054 a0001c0002t0023g0053 others(1): Show a0001c0001t0021g0089 a0001c0002t0001g0054 a0001c0002t0023g0053 a0001c0003t0009g0043	4	194	0.0206	34	c.75- others(51): Show c.75-57600_75-57567dupCTCCTCCCTTCTCCCATCTCCTCCCTTC TCCCAT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11108050	A A	ACCTCTCC others(27): Show ACCTCTCCCCACTCCCTCCCTCTCCCCACTCCCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04184.hp1 HG03490.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0024 a0001c0001t0001 a0001c0003t0024	a0001c0001t0001g0030 a0001c0003t0024g0142 a0001c0001t0001g0030 a0001c0003t0024g0142	2	194	0.0103	34	c.75- others(51): Show c.75-57403_75-57402insCCCTCTCCCCACTCCCTCCCTCTCCCCA CTCCCT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197070	G G	GAAGGAAA others(27): Show GAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	194	0.0052	34	c.272 others(53): Show c.272-20355_272-20354insAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAA		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12						chr10	TogoVar
CELF4_chr18_37238040_37570798	37505082	G G	GTTAGGAG others(27): Show GTTAGGAGAAGCAGGGGCAGGGGGCAACTGTCCTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0002 a0001c0002t0014g0002	1	184	0.0054	34	c.287 others(53): Show c.287-19509_287-19476dupTAGGACAGTTGCCCCCTGCCCCTGCT TCTCCTAA		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12						chr18	TogoVar
CELF5_chr19_3219661_3302076	3276664	C C	CGGGCCCT others(27): Show CGGGCCCTGAAGAGGGGCGGGGCTGCGGTGGGGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01496.hp2 HG01975.hp1 others(2): Show HG01123.hp2 HG01496.hp2 HG01975.hp1 HG04115.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0212 a0001c0002t0004g0031 a0001c0002t0004g0043 others(2): Show a0001c0001t0004g0212 a0001c0002t0004g0031 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0047	5	262	0.0191	34	c.523 others(49): Show c.523+683_523+716dupGCCCTGAAGAGGGGCGGGGCTGCGGTGGGG TGGG		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTCTT others(27): Show TTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01934.hp2 HG01358.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0125 a0001c0001t0005g0072 a0001c0001t0005g0125	2	262	0.0076	34	c.28 others(45): Show c.2861_*2862insTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTC		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding					2503		chr19	TogoVar
CEL_chr9_133056981_133076861	133065138	G G	GGCGAGGA others(27): Show GGCGAGGAGATCGCCACACGCGGAAACGTCATCGT	frameshift_variant frameshift_variant	HIGH	HG04204.hp2 HG04204.hp2	a0031 a0031	a0031c0048 a0031c0048	a0031c0048t0001 a0031c0048t0001	a0031c0048t0001g0064 a0031c0048t0001g0064	1	416	0.0024	34	c.441 others(41): Show c.441_474dupCGAGGAGATCGCCACACGCGGAAACGTCATCGTG	p.Val others(5): Show p.Val159fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	4/11	497/2381	475/2262	159/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071435	G G	GCCCCCCC others(27): Show GCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0149 a0004c0149	a0004c0149t0001 a0004c0149t0001	a0004c0149t0001g0012 a0004c0149t0001g0012	1	416	0.0024	34	c.195 others(43): Show c.1959_1960insGCCGGGCCCCCCCCCCGTGCCGCCCACGGGTGAC	p.Ser others(5): Show p.Ser654fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1982/2381	1960/2262	654/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071567	G G	GCCCCCCC others(27): Show GCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18947.hp1 NA18947.hp1	a0014 a0014	a0014c0129 a0014c0129	a0014c0129t0001 a0014c0129t0001	a0014c0129t0001g0004 a0014c0129t0001g0004	1	416	0.0024	34	c.209 others(43): Show c.2091_2092insGCCGGGCCCCCCCCCCGTGCCGCCCACGGGTGAC	p.Ser others(5): Show p.Ser698fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2114/2381	2092/2262	698/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728261	G G	GTATATAT others(27): Show GTATATATATATATACGTATATATATATATACGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19057.hp1 HG02280.hp2 NA19057.hp1	a0001 a0009 a0001 a0009	a0001c0026 a0009c0016 a0001c0026 a0009c0016	a0001c0026t0025 a0009c0016t0017 a0001c0026t0025 a0009c0016t0017	a0001c0026t0025g0223 a0009c0016t0017g0195 a0001c0026t0025g0223 a0009c0016t0017g0195	2	320	0.0063	34	c.204 others(53): Show c.2049+1583_2049+1584insTACGTATATATATATATACGTATATA TATATATA		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23						chr9	TogoVar
CEMIP_chr15_80774370_80956771	80900638	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	254	0.0039	34	c.141 others(53): Show c.1411+4589_1411+4590insGTGTGTGTGTGTGTGTGTGTGTCTGT GTGTGTGT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPE_chr4_103100811_103203343	103102328	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0094 a0001c0007t0001g0098 a0001c0007t0001g0094 a0001c0007t0001g0098	2	320	0.0063	34	c.38 others(45): Show c.3893_*3894insATATATATATATATATATATATATATATATATAT		CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding					3482		chr4	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0104 a0003c0003t0001g0105	2	320	0.0063	34	c.672 others(49): Show c.6721-65_6721-64insTATATATATATATATATATATATATATATA TATA		CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48						chr4	TogoVar
CENPI_chrX_101093204_101171126	101162471	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0012 a0001c0002t0005g0012	1	282	0.0036	34	c.213 others(51): Show c.2137-361_2137-360insTATATATATATATATATATATATATATA TATATA		CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPJ_chr13_24877279_24927861	24881893	C C	CATCTATA others(27): Show CATCTATATAGATATATAATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG02004.hp1 others(2): Show HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02145.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0007 a0001c0004t0001 a0001c0002t0001 a0001c0002t0007 a0001c0004t0001	a0001c0002t0001g0013 a0001c0002t0007g0025 a0001c0002t0007g0252 others(2): Show a0001c0002t0001g0013 a0001c0002t0007g0025 a0001c0002t0007g0252 a0001c0004t0001g0012 a0001c0004t0001g0262	5	440	0.0114	34	c.12 others(45): Show c.1283_*1284insTATATATCTATATAGATTATATATCTATATAGAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					385		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881915	C C	CATCTATA others(27): Show CATCTATATAGATATATAATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG03490.hp2 HG03492.hp2 others(3): Show HG02155.hp2 HG03490.hp2 HG03492.hp2 NA18612.hp1 NA19001.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0165 a0001c0002t0001g0167 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0173	6	440	0.0136	34	c.12 others(45): Show c.1261_*1262insTATATATCTATATAGATTATATATCTATATAGAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					363		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881937	C C	CATCTATA others(27): Show CATCTATATAGATATATAATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	440	0.0023	34	c.12 others(45): Show c.1239_*1240insTATATATCTATATAGATTATATATCTATATAGAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					341		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882028	A A	ATACATCT others(27): Show ATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	440	0.0023	34	c.11 others(45): Show c.1148_*1149insGATGTATCTATATAGATGTATCTATATAGATGTA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					250		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATAGATA others(27): Show GATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0034 a0004c0006t0004g0097 a0004c0006t0004g0034 a0004c0006t0004g0097	2	440	0.0046	34	c.10 others(45): Show c.1025_*1026insATATCTATCTATATAGATGTATCTATATATCTAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					127		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	260	0.0039	34	c.467 others(51): Show c.467+6719_467+6720insGTATATATATATATATATATATATATAT ATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTAT others(27): Show GTGTGTATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0130 a0002c0002t0012g0130	1	260	0.0039	34	c.467 others(51): Show c.467+6719_467+6720insGTGTATACATATATATATATATATATAT ATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(27): Show GTGTGTGTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG02895.hp2 HG01109.hp1 HG02717.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0194 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0006g0194 a0001c0001t0010g0147 a0001c0001t0010g0148	3	260	0.0115	34	c.467 others(51): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATATAT ATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19043.hp1 NA19063.hp1 NA18944.hp1 NA19043.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0139 a0001c0001t0003g0182 a0001c0001t0011g0179 a0001c0001t0003g0139 a0001c0001t0003g0182 a0001c0001t0011g0179	3	260	0.0115	34	c.467 others(51): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT ATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	260	0.0039	34	c.467 others(51): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT ATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP112_chr17_65630537_66197133	65832676	A A	ACCCCAAA others(27): Show ACCCCAAACTGTTCATGAACAAACTCCAAACAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0003 a0002c0004t0001 a0002c0001t0003 a0002c0004t0001	a0002c0001t0003g0019 a0002c0004t0001g0029 a0002c0001t0003g0019 a0002c0004t0001g0029	2	112	0.0179	34	c.239 others(55): Show c.2394+19127_2394+19128insGTCTGTTTGGAGTTTGTTCATGAA CAGTTTGGGG		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66113222	C C	CATATATA others(27): Show CATATATACATATACATATGTATACATGTATGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01081.hp2 others(21): Show HG00438.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp2 HG03688.hp2 HG04115.hp2 NA18985.hp1 NA18986.hp1 NA19056.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0008	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0004t0001 a0002c0008t0001	a0001c0002t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0042 others(21): Show a0001c0002t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0042 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0049 a0002c0001t0001g0052 a0002c0001t0001g0068 a0002c0001t0001g0079 a0002c0001t0003g0019 a0002c0001t0004g0001 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0008t0001g0030	24	112	0.2143	34	c.642 others(53): Show c.642+16490_642+16523dupACACATACATGTATACATATGTATAT GTATATAT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	6/26						chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp2 HG01358.hp1 others(3): Show HG01175.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG03942.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0028	a0001c0001t0002g0268 a0001c0001t0002g0284 a0001c0001t0002g0291 others(3): Show a0001c0001t0002g0268 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0004g0211 a0001c0001t0018g0188 a0001c0001t0028g0238	6	336	0.0179	34	c.249 others(51): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0271 a0006c0007t0006g0271	1	390	0.0026	34	c.-21 others(51): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18971.hp1 HG01123.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0076 a0001c0001t0001g0084	2	303	0.0066	34	c.367 others(53): Show c.3677-3342_3677-3309dupCACACACACACACACACACACACACA CACACACA		CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19						chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATATATAT others(27): Show ATATATATGTGTATGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG03540.hp2 HG02886.hp1 HG02896.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	3	430	0.0070	34	c.-10 others(45): Show c.-1057_-1056insCACACACACACACACACACACATACACATATATA		CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding					891		chr17	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp2 others(48): Show HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02280.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 NA18941.hp1 NA18948.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp2 NA18978.hp1 NA18984.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19079.hp2 NA19083.hp2 NA19085.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0011 a0013 a0015	a0001c0001 a0002c0002 a0004c0004 others(6): Show a0001c0001 a0002c0002 a0004c0004 a0005c0006 a0006c0005 a0008c0008 a0011c0009 a0013c0014 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0004c0004t0001 a0005c0006t0002 a0006c0005t0001 a0008c0008t0001 a0011c0009t0002 a0013c0014t0002 a0015c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0036 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0121 a0001c0001t0001g0200 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0058 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0004g0035 a0002c0002t0003g0137 a0004c0004t0001g0147 a0005c0006t0002g0057 a0006c0005t0001g0204 a0008c0008t0001g0196 a0011c0009t0002g0084 a0013c0014t0002g0031 a0015c0016t0002g0105	51	430	0.1186	34	c.-10 others(45): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA		CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding					891		chr17	TogoVar
CEP57L1_chr6_109090507_109179418	109125507	T T	TATATATA others(27): Show TATATATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0218 a0001c0001t0012g0218	1	228	0.0044	34	c.-3- others(51): Show c.-3-19711_-3-19710insTATATATATATACATATATATATATATA TATACA		CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP63_chr3_134481057_134570031	134538529	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	322	0.0031	34	c.555 others(51): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATATGT		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0256	1	322	0.0031	34	c.555 others(51): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT GTATAT		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01071.hp1 others(10): Show HG00544.hp1 HG00609.hp1 HG01071.hp1 HG01261.hp2 NA18612.hp2 NA18955.hp1 NA18962.hp1 NA18972.hp2 NA18988.hp2 NA19065.hp2 NA19083.hp1 NA19086.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0244 others(10): Show a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0244 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0259 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0297	13	322	0.0404	34	c.555 others(51): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT ATATAT		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	322	0.0031	34	c.555 others(51): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT GTATAT		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP76_chr18_12667625_12707723	12691043	G G	GTTAAACA others(27): Show GTTAAACAAAATGGATTTTCATCTACTTTAAATCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	380	0.0026	34	c.933 others(49): Show c.933+282_933+315dupTGATTTAAAGTAGATGAAAATCCATTTTGT TTAA		CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	7/11						chr18	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(27): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	302	0.0033	34	c.232 others(53): Show c.232+32152_232+32153insACACACACCCCCCCCCCCCCCCCCCC CCCCCCCC		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(27): Show GGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0209	1	302	0.0033	34	c.232 others(53): Show c.232+32152_232+32153insACACACACACACACACACCCCCCCCC CCCCCCCC		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	342	0.0029	34	c.208 others(51): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
CERCAM_chr9_128415857_128442347	128416865	G G	GTTTTGTT others(27): Show GTTTTGTTGAGACAGAATCTCACTCTGTCCACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	400	0.0025	34	c.-40 others(45): Show c.-4013_-4012insTTTTGTTGAGACAGAATCTCACTCTGTCCACCCA		CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding					3991		chr9	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0151 a0002c0004t0004g0151	1	298	0.0034	34	c.239 others(51): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12						chr2	TogoVar
CERS3_chr15_100395395_100533950	100466811	C C	CTCTCTCT others(27): Show CTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0311 a0001c0003t0002g0311	1	362	0.0028	34	c.845 others(51): Show c.845+2566_845+2567insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS3_chr15_100395395_100533950	100466819	C C	CTCTCTCT others(27): Show CTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02895.hp1 others(2): Show HG01891.hp1 HG02257.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0068 others(2): Show a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0302	5	362	0.0138	34	c.845 others(51): Show c.845+2558_845+2559insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)