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.

⚠️ 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
CELF2_chr10_11012872_11341675	11197025	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG04184.hp2 HG04204.hp2 HG00621.hp2 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0175 a0001c0002t0001g0119 a0001c0002t0002g0193 a0001c0001t0001g0175 a0001c0002t0001g0119 a0001c0002t0002g0193	3	194	0.0155	32	c.272 others(51): Show c.272-20396_272-20365dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCGTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA18962.hp2 NA18979.hp2 others(1): Show HG00323.hp1 NA18962.hp2 NA18979.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0001t0018g0036	4	432	0.0093	32	c.69 others(43): Show c.6960_*6961insCGAAAGAACGAAAGAACGAAAGAAAGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF5_chr19_3219661_3302076	3231533	G G	GTGGATGG others(25): Show GTGGATGGATGGATTTGTAGATGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18973.hp2 NA18966.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0057 a0001c0001t0001g0062	2	262	0.0076	32	c.259 others(49): Show c.259+6581_259+6612dupTTGTAGATGGGTGGGTGGATGGATGGAT GGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(25): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03471.hp1 HG03486.hp2 others(4): Show HG01123.hp2 HG03471.hp1 HG03486.hp2 NA18612.hp2 NA18906.hp2 NA18980.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0005 a0001c0002t0004 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0004 a0001c0010t0005	a0001c0001t0004g0010 a0001c0001t0004g0102 a0001c0001t0005g0009 others(4): Show a0001c0001t0004g0010 a0001c0001t0004g0102 a0001c0001t0005g0009 a0001c0001t0005g0152 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0010t0005g0252	7	262	0.0267	32	c.28 others(43): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTCTT others(25): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	262	0.0038	32	c.28 others(43): Show c.2861_*2862insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2503		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46500101	A A	ATCCTCCC others(25): Show ATCCTCCCAGCATGATCCCACCCCAGCCCCTGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp2 NA20805.hp1 HG03579.hp1 NA18906.hp2 NA20805.hp1	a0001 a0041 a0049 a0001 a0041 a0049	a0001c0002 a0041c0066 a0049c0062 a0001c0002 a0041c0066 a0049c0062	a0001c0002t0001 a0041c0066t0002 a0049c0062t0013 a0001c0002t0001 a0041c0066t0002 a0049c0062t0013	a0001c0002t0001g0013 a0041c0066t0002g0103 a0049c0062t0013g0100 a0001c0002t0001g0013 a0041c0066t0002g0103 a0049c0062t0013g0100	3	104	0.0289	32	c.354 others(53): Show c.3544+33494_3544+33525dupCCAGGGGCTGGGGTGGGATCATGC TGGGAGGA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71728258	C C	CACGTATA others(25): Show CACGTATATATATATATACGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03942.hp1 HG06807.hp1 HG03209.hp1 HG03942.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0013 a0001c0001t0018 a0004c0003t0001 a0001c0001t0013 a0001c0001t0018 a0004c0003t0001	a0001c0001t0013g0222 a0001c0001t0018g0226 a0004c0003t0001g0173 a0001c0001t0013g0222 a0001c0001t0018g0226 a0004c0003t0001g0173	3	320	0.0094	32	c.204 others(51): Show c.2049+1586_2049+1587insATATATATATATACGTATATATATAT ATACGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728291	A A	ACGTATAT others(25): Show ACGTATATATATATATATATATATATATACACG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0314 a0001c0001t0012g0314	1	320	0.0031	32	c.204 others(51): Show c.2049+1553_2049+1554insCGTGTATATATATATATATATATATA TATACG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728296	T T	TATGTATA others(25): Show TATGTATATATATATATATATACGTGTATATAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	320	0.0031	32	c.204 others(51): Show c.2049+1548_2049+1549insGTATATACACGTATATATATATATAT ATACAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80937273	C C	CGAGGCTC others(25): Show CGAGGCTCTGCGAGATAAAGTGTTGAGGCCGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	254	0.0039	32	c.322 others(49): Show c.3221+390_3221+421dupAGGCTCTGCGAGATAAAGTGTTGAGGCC GAGG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	348	0.0029	32	c.-23 others(43): Show c.-2358_-2357insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CENPB_chr20_3778851_3791740	3788142	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02818.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	410	0.0049	32	c.-16 others(43): Show c.-1660_-1659insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CENPB	ENSG00000125817.8	transcript	ENST00000379751.5	protein_coding		1403		chr20	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02647.hp2 NA18990.hp1 others(1): Show HG00609.hp1 HG02647.hp2 NA18990.hp1 NA19072.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0010 a0002c0002 a0003c0003 a0007c0010	a0002c0002t0001 a0003c0003t0001 a0007c0010t0001 a0002c0002t0001 a0003c0003t0001 a0007c0010t0001	a0002c0002t0001g0044 a0002c0002t0001g0053 a0003c0003t0001g0114 others(1): Show a0002c0002t0001g0044 a0002c0002t0001g0053 a0003c0003t0001g0114 a0007c0010t0001g0306	4	320	0.0125	32	c.672 others(47): Show c.6721-65_6721-64insTATATATATATATATATATATATATATATA TA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103173550	C C	CAATATTT others(25): Show CAATATTTGCAAAATATTTGCAATATTTGCAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp2 HG02970.hp1 NA18906.hp2	a0001 a0013 a0001 a0013	a0001c0004 a0013c0017 a0001c0004 a0013c0017	a0001c0004t0001 a0013c0017t0001 a0001c0004t0001 a0013c0017t0001	a0001c0004t0001g0293 a0013c0017t0001g0292 a0001c0004t0001g0293 a0013c0017t0001g0292	2	320	0.0063	32	c.164 others(51): Show c.1647+1154_1647+1185dupTCTGCAAATATTGCAAATATTTTGCA AATATT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	16/48			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(25): Show TATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18995.hp2 NA19005.hp1 others(1): Show NA18971.hp1 NA18995.hp2 NA19005.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0135 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0135 a0001c0002t0001g0157	4	440	0.0091	32	c.10 others(43): Show c.1087_*1088insCTATATAGATGTATCTATATAGATGTATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		189		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882090	A A	ATAGATAC others(25): Show ATAGATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	440	0.0023	32	c.10 others(43): Show c.1086_*1087insGATGTATCTATATATCTATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATACATC others(25): Show GATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03130.hp2 HG02970.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0063 a0002c0003t0009g0066 a0002c0003t0009g0063 a0002c0003t0009g0066	2	440	0.0046	32	c.10 others(43): Show c.1025_*1026insATAGATGTATCTATATATCTATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		127		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882169	G G	GATACATC others(25): Show GATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0064 a0002c0003t0009g0064	1	440	0.0023	32	c.10 others(43): Show c.1007_*1008insATAGATGTATCTATATATCTATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		109		chr13	TogoVar
CENPM_chr22_41933737_41952152	41939886	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0204 a0001c0001t0003g0205	2	258	0.0078	32	c.403 others(47): Show c.403-691_403-690insTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(25): Show GTGTGTGTATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp2 HG01081.hp2 others(3): Show HG00597.hp2 HG01074.hp2 HG01081.hp2 HG02486.hp2 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0032	a0001c0001t0001g0142 a0001c0001t0001g0201 a0001c0001t0006g0127 others(3): Show a0001c0001t0001g0142 a0001c0001t0001g0201 a0001c0001t0006g0127 a0001c0001t0006g0209 a0001c0001t0010g0146 a0001c0001t0032g0166	6	260	0.0231	32	c.467 others(49): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATATAT ATAT	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(25): Show GTGTGTGTGTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0178 a0001c0001t0028g0178	1	260	0.0039	32	c.467 others(49): Show c.467+6719_467+6720insGTGTGTGTATACATATATATATATATAT ATAT	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(25): Show GTGTGTGTGTGTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19064.hp2 NA19054.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0169 a0001c0001t0003g0160 a0001c0001t0003g0169	2	260	0.0077	32	c.467 others(49): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT ATAT	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(25): Show GTGTGTGTGTGTGTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18988.hp2 NA18942.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0174 a0001c0001t0003g0144 a0001c0001t0003g0174	2	260	0.0077	32	c.467 others(49): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT ATAT	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(25): Show GTGTGTGTGTGTGTGTATACATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	260	0.0039	32	c.467 others(49): Show c.467+6719_467+6720insGTGTGTGTGTGTGTATACATATATATAT ATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352510	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	260	0.0039	32	c.467 others(49): Show c.467+6752_467+6753insTATATATATATATATATATATATATATA TATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	260	0.0039	32	c.565 others(51): Show c.565-77985_565-77984insAAAATATATATATATATATATATATA TATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP112_chr17_65630537_66197133	65660177	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0022 a0004c0006t0001g0022	1	112	0.0089	32	c.269 others(53): Show c.2698-19113_2698-19112insAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65870014	T T	TAAGAAAG others(25): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0037 a0002c0001t0001g0037	1	112	0.0089	32	c.216 others(53): Show c.2164-18012_2164-17981dupTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02683.hp2 HG02074.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0204 a0001c0001t0011g0290 a0001c0001t0002g0204 a0001c0001t0011g0290	2	336	0.0060	32	c.249 others(49): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80754555	T T	TGGGTTCA others(25): Show TGGGTTCAAGCAATTTGCCTGCCTCAGCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp2 NA18906.hp2 HG01891.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0006g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0006g0155	3	164	0.0183	32	c.261 others(51): Show c.2613+2305_2613+2336dupGGGAGGCTGAGGCAGGCAAATTGCTT GAACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	18/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80754556	G G	GGGTTCAA others(25): Show GGGTTCAAGCAATTTGCCTGCCTCAGCCTCCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0153 a0001c0009t0006g0154 a0001c0009t0006g0153 a0001c0009t0006g0154	2	164	0.0122	32	c.261 others(51): Show c.2613+2335_2613+2336insTGGGAGGCTGAGGCAGGCAAATTGCT TGAACC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	18/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80811818	T T	TTAGATAG others(25): Show TTAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0126 a0003c0003t0002g0126	1	164	0.0061	32	c.121 others(53): Show c.1210-18709_1210-18708insTCTATCTATCTATCTATCTATCTA TCTATCTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890848	A A	AATGAGTG others(25): Show AATGAGTGGGTGGGTGGGTGGATGGATGAATGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0030 a0030	a0030c0040 a0030c0040	a0030c0040t0011 a0030c0040t0011	a0030c0040t0011g0273 a0030c0040t0011g0273	1	328	0.0031	32	c.387 others(51): Show c.3878+1107_3878+1138dupGTGGATGGATGAATGGATGAGTGGGT GGGTGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02818.hp2 HG03453.hp2 others(2): Show HG00099.hp2 HG02818.hp2 HG03453.hp2 NA18984.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0294	5	303	0.0165	32	c.367 others(51): Show c.3677-3340_3677-3309dupCACACACACACACACACACACACACA CACACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG01891.hp2 others(14): Show HG01261.hp1 HG01516.hp1 HG01891.hp2 HG02004.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02683.hp1 HG02970.hp1 NA18612.hp1 NA18952.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18994.hp2 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0005c0006t0002	a0001c0001t0001g0063 a0001c0001t0001g0132 a0001c0001t0001g0151 others(7): Show a0001c0001t0001g0063 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0002g0002 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0002c0002t0002g0097 a0005c0006t0002g0061	17	430	0.0395	32	c.-10 others(43): Show c.-1057_-1056insCACACACACACACACACACACACACACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp1 NA18941.hp2 HG01993.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0183 a0001c0001t0148 a0001c0001t0183	a0001c0001t0148g0006 a0001c0001t0183g0143 a0001c0001t0148g0006 a0001c0001t0183g0143	2	376	0.0053	32	c.28 others(43): Show c.2861_*2862insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174320696	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 NA18986.hp2 NA18998.hp2 HG02300.hp2 NA18986.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0144 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0144	3	388	0.0077	32	c.33 others(43): Show c.3313_*3314insTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding		369		chr4	TogoVar
CEP44_chr4_174278911_174325328	174320698	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	388	0.0026	32	c.33 others(43): Show c.3315_*3316insTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding		371		chr4	TogoVar
CEP63_chr3_134481057_134570031	134538529	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0292 a0002c0002t0001g0292	1	322	0.0031	32	c.555 others(49): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATGT	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(25): Show GTATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0282 a0002c0002t0001g0282	1	322	0.0031	32	c.555 others(49): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT GTAT	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(25): Show GTATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp2 others(30): Show HG00099.hp2 HG00323.hp1 HG00558.hp2 HG00738.hp1 HG01081.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02273.hp2 HG02723.hp2 NA18939.hp1 NA18940.hp1 NA18968.hp2 NA18974.hp1 NA18981.hp1 NA18986.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp2 NA19007.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0002t0026 a0002c0011t0001 a0002c0002t0001 a0002c0002t0026 a0002c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0209 a0002c0002t0001g0215 others(28): Show a0002c0002t0001g0002 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0232 a0002c0002t0001g0237 a0002c0002t0001g0240 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0296 a0002c0002t0026g0304 a0002c0011t0001g0294	33	322	0.1025	32	c.555 others(49): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT ATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP76_chr18_12667625_12707723	12669933	G G	GTTGCGGT others(25): Show GTTGCGGTGAGCCGAGATTGCGGTGAGCCGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	380	0.0026	32	c.34 others(43): Show c.3431_*3432insTCTCGGCTCACCGCAATCTCGGCTCACCGCAA	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2691		chr18	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(25): Show GGGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0232 a0003c0003t0002g0232	1	302	0.0033	32	c.232 others(51): Show c.232+32152_232+32153insACACACACACACACCCCCCCCCCCCC CCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118651683	C C	CGGGGCGG others(25): Show CGGGGCGGGGACTGCGGGGGGCGGGGACTGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18945.hp1 NA18979.hp1 HG01891.hp2 NA18945.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0005 a0001c0001t0001 a0001c0001t0004 a0002c0002t0005	a0001c0001t0001g0164 a0001c0001t0004g0097 a0002c0002t0005g0277 a0001c0001t0001g0164 a0001c0001t0004g0097 a0002c0002t0005g0277	3	302	0.0099	32	c.-44 others(41): Show c.-446_-415dupCCGCAGTCCCCGCCCCCCGCAGTCCCCGCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		93		chr6	TogoVar
CEP97_chr3_101719614_101775562	101723139	T T	TATATATA others(25): Show TATATATAACACATATAATATATAATATATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0144 a0001c0001t0017g0144	1	352	0.0028	32	c.-15 others(43): Show c.-1538_-1537insATATATAACACATATAATATATAATATATAAC	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1474		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723139	T T	TATATATA others(25): Show TATATATAACATATATAATATATAATATATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(49): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03139.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp2 NA18946.hp2 NA18968.hp2 NA18969.hp1 NA18987.hp1 NA18993.hp1 NA18999.hp1 NA19030.hp2 NA19054.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0007 a0001c0001 a0001c0008 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0008t0004 a0006c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 others(47): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0312 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0005g0064 a0001c0001t0005g0070 a0001c0001t0005g0093 a0001c0001t0014g0071 a0001c0001t0021g0052 a0001c0001t0022g0067 a0001c0001t0030g0069 a0001c0008t0004g0075 a0006c0007t0001g0055	52	352	0.1477	32	c.-15 others(43): Show c.-1538_-1537insATATATAACATATATAATATATAATATATAAC	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1474		chr3	TogoVar
CEPT1_chr1_111135223_111190104	111150376	C C	CTATTCTT others(25): Show CTATTCTTCCACAGCCCCCTTCCCATTCGTGAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	410	0.0024	32	c.339 others(49): Show c.339+2325_339+2356dupATTCTTCCACAGCCCCCTTCCCATTCGT GATT	CEPT1	ENSG00000134255.16	transcript	ENST00000357172.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERKL_chr2_181531672_181662105	181578180	G G	GCATATAT others(25): Show GCATATATATACACACACGTATATATATACACA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18968.hp1 NA18986.hp2 others(1): Show NA18957.hp2 NA18968.hp1 NA18986.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0003 a0001c0002t0003 a0002c0003t0003	a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0034 others(1): Show a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0034 a0002c0003t0003g0108	4	298	0.0134	32	c.482 others(49): Show c.482-4328_482-4297dupTGTGTATATATATACGTGTGTGTATATA TATG	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01074.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01074.hp2 HG02148.hp1 HG02293.hp2 NA19064.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0004 a0002c0004t0002 a0002c0004t0004 a0002c0003t0004 a0002c0004t0002 a0002c0004t0004	a0002c0003t0004g0004 a0002c0004t0002g0219 a0002c0004t0004g0186 others(2): Show a0002c0003t0004g0004 a0002c0004t0002g0219 a0002c0004t0004g0186 a0002c0004t0004g0240 a0002c0004t0004g0241	6	298	0.0201	32	c.239 others(49): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650079	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0121 a0002c0003t0007g0121	1	298	0.0034	32	c.238 others(49): Show c.238+6658_238+6689dupCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)