JoGo: Joint Open Genome and Omics Platform

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
DIAPH2_chrX_96679842_97609997	97380680	C C	CTTTTAAA others(23): Show CTTTTAAAATTATTTCCTAAGGAAAGAGAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02055.hp1 HG01081.hp2 HG01243.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0018 a0001c0001t0002 a0001c0001t0017 a0001c0001t0018	a0001c0001t0002g0139 a0001c0001t0017g0086 a0001c0001t0018g0083 a0001c0001t0002g0139 a0001c0001t0017g0086 a0001c0001t0018g0083	3	147	0.0204	30	c.301 others(49): Show c.3010-3228_3010-3227insTTTAAAATTATTTCCTAAGGAAAGAG AATT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59729810	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	208	0.0048	30	c.331 others(51): Show c.3319+44378_3319+44379insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59928372	C C	CTTTTATA others(23): Show CTTTTATAAATTTCTTTTTATTTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	208	0.0048	30	c.207 others(49): Show c.2075-3532_2075-3503dupCACACCCCAAATAAAAAGAAATTTAT AAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	17/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01928.hp2 others(3): Show HG01081.hp1 HG01261.hp2 HG01928.hp2 HG01952.hp2 HG03017.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0165 a0001c0001t0002g0102 a0001c0001t0002g0114 others(3): Show a0001c0001t0001g0165 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0141	6	208	0.0289	30	c.180 others(47): Show c.180+6668_180+6669insATATATATATATATATATATATATATAT GT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01167.hp2 others(15): Show HG00544.hp2 HG00609.hp1 HG01167.hp2 HG01169.hp1 HG02135.hp1 HG02135.hp2 HG02895.hp2 HG03516.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18964.hp1 NA18984.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19080.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0027 a0003c0003 a0001c0001 a0001c0027 a0003c0003	a0001c0001t0001 a0001c0001t0014 a0001c0027t0001 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0027t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0014g0106 a0001c0027t0001g0066 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0245 a0003c0003t0001g0257 a0003c0003t0001g0268	18	320	0.0563	30	c.-34 others(41): Show c.-3455_-3454insTATATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(23): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01106.hp1 others(3): Show HG00140.hp1 HG00735.hp2 HG01106.hp1 HG03098.hp1 NA18522.hp2 NA18994.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0014 a0001c0007t0005 a0001c0006t0014 a0001c0007t0005	a0001c0006t0014g0150 a0001c0006t0014g0175 a0001c0007t0005g0128 others(3): Show a0001c0006t0014g0150 a0001c0006t0014g0175 a0001c0007t0005g0128 a0001c0007t0005g0133 a0001c0007t0005g0157 a0001c0007t0005g0158	6	374	0.0160	30	c.92- others(45): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0151 a0001c0007t0005g0151	1	374	0.0027	30	c.284 others(47): Show c.284-1738_284-1709dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46564772	G G	GCCCTCAG others(23): Show GCCCTCAGAGGTCGGTCCTGATCGGAAGGGT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	374	0.0027	30	c.416 others(47): Show c.4164+841_4164+842insCCTCAGAGGTCGGTCCTGATCGGAAGGG TC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573246	T T	TAAATAGA others(23): Show TAAATAGATTAAATGGACAGAGATTGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	374	0.0027	30	c.56 others(41): Show c.5624_*5625insAAATAGATTAAATGGACAGAGATTGGCAGA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3232		chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	374	0.0027	30	c.60 others(41): Show c.6023_*6024insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	284	0.0035	30	c.-39 others(41): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp2 HG03654.hp2 HG01074.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0075 a0001c0001t0015g0088 a0001c0001t0015g0075 a0001c0001t0015g0088	2	284	0.0070	30	c.-11 others(39): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593691	T T	TTCTCCTC others(23): Show TTCTCCTCTCCTCTCCCCTCCCCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0111 a0001c0002t0004g0111	1	284	0.0035	30	c.101 others(49): Show c.101-32265_101-32264insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593707	C C	CCTCCTCT others(23): Show CCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG02148.hp1 others(1): Show HG01943.hp1 HG01993.hp2 HG02148.hp1 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0064 a0001c0003t0002g0068 others(1): Show a0001c0003t0002g0028 a0001c0003t0002g0064 a0001c0003t0002g0068 a0001c0003t0002g0070	4	284	0.0141	30	c.101 others(49): Show c.101-32259_101-32230dupTCTCCTCTCCTCTCCTCTCCTCTCCT CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593722	T T	TCTCCTCT others(23): Show TCTCCTCTCCTCTCCCCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 NA18944.hp1 others(9): Show HG00438.hp2 HG00609.hp1 NA18944.hp1 NA18950.hp1 NA18953.hp1 NA18971.hp2 NA18979.hp2 NA18990.hp2 NA18994.hp2 NA19064.hp1 NA19079.hp1 NA20905.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0002 a0001c0010 a0008c0014 others(1): Show a0001c0002 a0001c0010 a0008c0014 a0010c0012	a0001c0002t0004 a0001c0010t0004 a0008c0014t0004 others(1): Show a0001c0002t0004 a0001c0010t0004 a0008c0014t0004 a0010c0012t0003	a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0235 others(9): Show a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0250 a0001c0002t0004g0272 a0001c0010t0004g0196 a0001c0010t0004g0197 a0008c0014t0004g0225 a0010c0012t0003g0198	12	284	0.0423	30	c.101 others(49): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCCCTCCTCTCCT CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593732	T T	TCTCCCCT others(23): Show TCTCCCCTCCTCTCCTCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01123.hp1 others(8): Show HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp1 HG02300.hp2 HG02615.hp2 HG03927.hp1 NA18906.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0206 others(8): Show a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0239 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0273	11	284	0.0387	30	c.101 others(49): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593737	T T	TCTCCCCT others(23): Show TCTCCCCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	284	0.0035	30	c.101 others(49): Show c.101-32235_101-32234insCCTCCTCTCCTCTCCTCTCCCCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(23): Show TCTCCTCTCCTCTCCTCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0202	1	284	0.0035	30	c.101 others(49): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCCCTCCCCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598801	T T	TCCCCCTC others(23): Show TCCCCCTCCCCTCTCCCCTCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	284	0.0035	30	c.101 others(49): Show c.101-27171_101-27170insCTCCCCTCTCCCCTCCCCTCCCCCTC CCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0134 a0001c0001t0014g0134	1	284	0.0035	30	c.285 others(49): Show c.2852-1728_2852-1727insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478238	G G	GGAGGGGA others(23): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18962.hp1 HG02155.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0004g0015 a0001c0001t0001g0023 a0001c0001t0004g0015	2	88	0.0227	30	c.158 others(47): Show c.158-5690_158-5689insTTCTCCCCTCCCCTCCCCTCCCCTCCCC TC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608594	A A	ACACATCC others(23): Show ACACATCCCCCCCCCACACACACACACATCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	88	0.0114	30	c.85+ others(47): Show c.85+80899_85+80900insGGATGTGTGTGTGTGTGGGGGGGGGATG TG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	88	0.0114	30	c.85+ others(47): Show c.85+14704_85+14705insCTCTCTCTCTCTCTATATATATATATAT AT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03130.hp2 HG02040.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0026 a0001c0010t0002g0001 a0001c0001t0001g0026 a0001c0010t0002g0001	2	88	0.0227	30	c.85+ others(47): Show c.85+14704_85+14705insCTCTCTCTCTCTATATATATATATATAT AT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	88	0.0114	30	c.85+ others(47): Show c.85+14704_85+14705insCTCTCTCTCTATATATATATATATATAT AT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(23): Show TATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	88	0.0114	30	c.85+ others(47): Show c.85+14704_85+14705insCTCTCTCTATATATATATATATATATAT AT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846860	T T	TATACACG others(23): Show TATACACGTATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	200	0.0050	30	c.474 others(45): Show c.474+322_474+323insGTATATATATGTATATATATATACGTGTAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1C_chr18_74429775_74462308	74460804	A A	ATTCATTC others(23): Show ATTCATTCAAAGCACTACTGAGCACCTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0040 a0002c0006t0002g0040	1	484	0.0021	30	c.-35 others(41): Show c.-3546_-3545insATAGAGGTGCTCAGTAGTGCTTTGAATGAA	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding		3497		chr18	TogoVar
DIPK2A_chr3_143966823_143997368	143978658	A A	ATATATCT others(23): Show ATATATCTATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	408	0.0049	30	c.657 others(47): Show c.657+5670_657+5671insATATCTATATATATATATATATATATAT CT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIS3L2_chr2_231956713_232342192	232000613	T T	TTTTCCTT others(23): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp1 HG01256.hp1 others(26): Show HG00423.hp2 HG01074.hp1 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02735.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG04204.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18959.hp1 NA18974.hp1 NA18979.hp1 NA19000.hp1 NA19007.hp1 NA19012.hp2 NA19056.hp1 NA19067.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0004 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0010t0001 a0002c0004t0001 a0002c0005t0002 a0002c0008t0008	a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0207 others(26): Show a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0005g0218 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0199 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0005g0219 a0001c0003t0001g0055 a0001c0003t0001g0157 a0001c0003t0001g0183 a0001c0010t0001g0165 a0002c0004t0001g0186 a0002c0005t0002g0215 a0002c0008t0008g0195	29	304	0.0954	30	c.-93 others(49): Show c.-93-14202_-93-14173dupCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086171	A A	ATATACGT others(23): Show ATATACGTATATATACACACGTATAGACGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19067.hp2 NA20905.hp2 HG03579.hp2 NA19067.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0131 a0001c0002t0001g0180 a0001c0003t0001g0140 a0001c0002t0001g0131 a0001c0002t0001g0180 a0001c0003t0001g0140	3	304	0.0099	30	c.367 others(47): Show c.367-1248_367-1219dupATATATACACACGTATAGACGTGTATAC GT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086239	A A	ATATATAC others(23): Show ATATATACACACGTATAGACGTGTATACGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02486.hp1 HG02647.hp2 others(2): Show HG02135.hp1 HG02486.hp1 HG02647.hp2 HG03453.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0259 a0001c0002t0001g0054	5	304	0.0165	30	c.367 others(47): Show c.367-1239_367-1210dupCACGTATAGACGTGTATACGTGTATATA CA	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(23): Show ACACATATATATATGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp1 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0135 a0001c0001t0001g0136	2	304	0.0066	30	c.367 others(45): Show c.367-828_367-827insCACATATATATATGTATATATATATATGTG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232205211	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	304	0.0033	30	c.112 others(49): Show c.1125-5088_1125-5087insTATATATATATATATATATATATATA TATA	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	G G	GCCGCCTC others(23): Show GCCGCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	304	0.0033	30	c.201 others(47): Show c.2011-662_2011-661insGCCTCCTCCTCCTCCTCCTCCTCCTCCT CC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	G G	GCCTCCTC others(23): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	304	0.0033	30	c.201 others(47): Show c.2011-649_2011-620dupTCCTCCTCCTCCTCCTCCTCCTCCTCCT CC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02970.hp1 others(1): Show HG02451.hp2 HG02572.hp2 HG02970.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0002 a0001c0004t0001 a0001c0013t0021 a0001c0001t0002 a0001c0004t0001 a0001c0013t0021	a0001c0001t0002g0121 a0001c0004t0001g0122 a0001c0004t0001g0123 others(1): Show a0001c0001t0002g0121 a0001c0004t0001g0122 a0001c0004t0001g0123 a0001c0013t0021g0370	4	400	0.0100	30	c.558 others(45): Show c.558+251_558+252insAAAAAAAAAATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(23): Show AAAAAAAAAAATATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0128 a0009c0021t0001g0128	1	400	0.0025	30	c.558 others(45): Show c.558+251_558+252insAAAAAAAAATATAATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0276 a0001c0008t0005g0276	1	400	0.0025	30	c.558 others(45): Show c.558+251_558+252insAAAAAAAATATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	400	0.0025	30	c.558 others(45): Show c.558+251_558+252insAAAATATATATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66332494	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATACACACATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01515.hp1 others(5): Show HG00280.hp1 HG00639.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp2 HG02145.hp2 HG02602.hp1 HG03688.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0009 a0003c0006t0001 a0003c0006t0009	a0003c0006t0001g0023 a0003c0006t0001g0027 a0003c0006t0009g0006 others(4): Show a0003c0006t0001g0023 a0003c0006t0001g0027 a0003c0006t0009g0006 a0003c0006t0009g0024 a0003c0006t0009g0025 a0003c0006t0009g0026 a0003c0006t0009g0028	8	400	0.0200	30	c.268 others(47): Show c.2682-227_2682-226insATACACACATATATATGTGTGTGTGTGT GT	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231713736	C C	CATATATA others(23): Show CATATATATAGGAGATATATATATAGGAGAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	40	0.0250	30	c.111 others(51): Show c.1117+11752_1117+11781dupGGAGATATATATATAGGAGATATA TATATA	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISC1_chr1_231621790_232046272	231907096	C C	CTCCCTTC others(23): Show CTCCCTTCCTTCCTTCCCTCCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0014 a0007c0011t0002g0014	1	40	0.0250	30	c.198 others(51): Show c.1982-51729_1982-51728insCTTCCTTCCTTCCCTCCCTCCCTT CCTTCC	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02559.hp1 others(2): Show HG01257.hp1 HG01258.hp2 HG02559.hp1 HG02735.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0009 a0001c0002 a0002c0003 a0002c0009	a0001c0002t0001 a0002c0003t0001 a0002c0009t0001 a0001c0002t0001 a0002c0003t0001 a0002c0009t0001	a0001c0002t0001g0190 a0002c0003t0001g0031 a0002c0003t0001g0058 others(2): Show a0001c0002t0001g0190 a0002c0003t0001g0031 a0002c0003t0001g0058 a0002c0009t0001g0335 a0002c0009t0001g0336	5	348	0.0144	30	c.510 others(49): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 NA18522.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0003 a0001c0003t0053g0003	2	396	0.0051	30	c.36 others(41): Show c.3697_*3698insAAAAAAAAAAAAAAAATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0168 a0001c0003t0168	a0001c0003t0168g0031 a0001c0003t0168g0031	1	396	0.0025	30	c.36 others(41): Show c.3697_*3698insAAAAAAAAAAAAAATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0173 a0001c0003t0173	a0001c0003t0173g0003 a0001c0003t0173g0003	1	396	0.0025	30	c.36 others(41): Show c.3697_*3698insAAAAAAAAAAAATATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DIXDC1_chr11_111932343_112027653	111950438	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	278	0.0036	30	c.60+ others(47): Show c.60+12880_60+12881insATATATATATATATATATATATATATAT TT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DKK2_chr4_106916802_107041313	106961565	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	218	0.0046	30	c.223 others(49): Show c.223-35646_223-35617dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	336	0.0030	30	c.51 others(41): Show c.5150_*5151insAAAAAAAAAAAAAAAAATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)