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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPIRE2_chr16_89823475_89876319	89852825	C C	CCCGTCTT others(33): Show CCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	356	0.0028	40	c.646 others(57): Show c.646-1451_646-1450insCCCTCCCTCTCACCCCCCGGATCCCATG ATCCGTCTTCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852854	G G	GGATCCCA others(33): Show GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	356	0.0028	40	c.646 others(57): Show c.646-1432_646-1431insGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852855	C C	CATCCCAT others(33): Show CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	356	0.0028	40	c.646 others(57): Show c.646-1419_646-1418insGTCTTCCGTCCTCCCTCTCACCCCCCAG ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852855	C C	CATCCCAT others(33): Show CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	356	0.0028	40	c.646 others(57): Show c.646-1419_646-1418insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852861	A A	ATGGCCCG others(33): Show ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG01516.hp1 others(2): Show HG01109.hp1 HG01123.hp2 HG01516.hp1 HG01517.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0306 others(2): Show a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308	5	356	0.0140	40	c.646 others(57): Show c.646-1419_646-1418insGTCTTCCGTCCTCCCTCTCACCCCCCAG ATCCCCTGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852893	C C	CAGATCCC others(33): Show CAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG01952.hp1 others(1): Show HG01928.hp2 HG01943.hp1 HG01952.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0013 a0001c0003t0001 a0001c0003t0013	a0001c0003t0001g0127 a0001c0003t0001g0132 a0001c0003t0001g0133 others(1): Show a0001c0003t0001g0127 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0013g0128	4	356	0.0112	40	c.646 others(57): Show c.646-1393_646-1392insAGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852895	G G	GATCCCAT others(33): Show GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp2 HG00733.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0068 a0001c0001t0001g0087	2	356	0.0056	40	c.646 others(57): Show c.646-1371_646-1332dupGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852908	G G	GTCTTCCA others(33): Show GTCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	356	0.0028	40	c.646 others(57): Show c.646-1372_646-1371insATCCTCCCTCTCACCCCCCGGATCCCAT GGCCCCTCTTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852935	C C	CATCCCAT others(33): Show CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0141 a0001c0001t0001g0147	2	356	0.0056	40	c.646 others(57): Show c.646-1332_646-1331insGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852955	A A	ATCCTCCC others(33): Show ATCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01123.hp2 others(15): Show HG00735.hp2 HG01109.hp1 HG01123.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp1 HG02071.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 others(15): Show a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0327 a0003c0005t0001g0295 a0003c0005t0001g0297 a0003c0005t0001g0299 a0003c0005t0001g0304 a0003c0005t0001g0309 a0003c0005t0001g0310 a0003c0005t0001g0311 a0003c0005t0001g0312	18	356	0.0506	40	c.646 others(57): Show c.646-1312_646-1311insCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19007.hp2 NA19066.hp1 NA19000.hp2 NA19007.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0213	3	356	0.0084	40	c.180 others(57): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATATATA TATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	356	0.0028	40	c.180 others(57): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19060.hp1 NA19070.hp2 others(1): Show NA18943.hp2 NA19060.hp1 NA19070.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0198 a0001c0001t0001g0223 a0001c0001t0001g0265 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0223 a0001c0001t0001g0265 a0001c0001t0004g0204	4	356	0.0112	40	c.180 others(57): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	356	0.0028	40	c.180 others(57): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0176 a0001c0003t0005g0176	1	404	0.0025	40	c.-40 others(51): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462558	C C	CACCCACC others(33): Show CACCCACCCACCCACCCACCCACCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp1 HG01891.hp2 others(17): Show HG00323.hp2 HG01884.hp1 HG01891.hp2 HG02129.hp2 HG02280.hp1 HG02647.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03834.hp1 HG04204.hp1 NA18948.hp1 NA18948.hp2 NA18969.hp1 NA19011.hp2 NA19077.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0042 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0006t0002 a0001c0007t0003 a0001c0042t0002 a0003c0008t0003	a0001c0001t0001g0111 a0001c0001t0001g0170 a0001c0001t0001g0192 others(17): Show a0001c0001t0001g0111 a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0002g0137 a0001c0001t0002g0219 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0003t0001g0110 a0001c0003t0001g0179 a0001c0006t0002g0029 a0001c0007t0003g0325 a0001c0042t0002g0344 a0003c0008t0003g0143	20	362	0.0553	40	c.111 others(59): Show c.1113+9354_1113+9355insCCCACCCACCCACCCACCCACCCATT CATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462758	C C	CATCCACC others(33): Show CATCCACCCACCCACCCATCCACCAATCCATCCATCCACCA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0083 a0003c0016t0001g0083	1	362	0.0028	40	c.111 others(59): Show c.1113+9558_1113+9559insCCCACCCACCCATCCACCAATCCATC CATCCACCAATCCA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0052 a0001c0001t0025g0052	1	152	0.0066	40	c.347 others(57): Show c.347+8590_347+8591insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0090 a0001c0002t0006g0090	1	152	0.0066	40	c.347 others(57): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT TTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(33): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	152	0.0066	40	c.187 others(59): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTATATATAT ATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	152	0.0066	40	c.187 others(59): Show c.187-89784_187-89783insCTCTCTCTCTCTCTATATATATATAT ATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(33): Show CATATATATACACATATATATATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	144	0.0069	40	c.589 others(59): Show c.589+28327_589+28328insATATATACACATATATATATATATAT ATGTGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(33): Show CATATATATACATATATATATATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01934.hp2 others(8): Show HG00558.hp1 HG00621.hp2 HG01934.hp2 HG02004.hp1 HG02040.hp1 HG02602.hp2 HG02683.hp2 HG04204.hp1 NA18962.hp1 NA19002.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0116 others(8): Show a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0002g0031 a0001c0001t0002g0059 a0001c0001t0002g0122 a0001c0001t0010g0039 a0001c0002t0001g0081 a0001c0002t0001g0086	11	144	0.0764	40	c.589 others(59): Show c.589+28327_589+28328insATATATACACATATATATATATATAT ATATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02258.hp2 HG02895.hp1 HG02897.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0002c0004t0005 a0001c0001t0003 a0002c0004t0003 a0002c0004t0005	a0001c0001t0003g0042 a0002c0004t0003g0140 a0002c0004t0005g0013 others(1): Show a0001c0001t0003g0042 a0002c0004t0003g0140 a0002c0004t0005g0013 a0002c0004t0005g0040	4	144	0.0278	40	c.589 others(59): Show c.589+28327_589+28328insATATATACATATATATATATATATAT ATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167222680	T T	TATATATG others(33): Show TATATATGAATATATAAACATATAAACATAGATATATATTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02280.hp2 others(5): Show HG01109.hp1 HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02897.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0014 a0002c0004t0005	a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0002g0016 others(5): Show a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0012 a0001c0001t0003g0025 a0001c0001t0003g0069 a0001c0005t0014g0001 a0002c0004t0005g0013	8	144	0.0556	40	c.189 others(59): Show c.189+11265_189+11304dupCAATATATATCTATGTTTATATGTTT ATATATTCATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14160547	T T	TTACATAT others(33): Show TTACATATATATATTTATATATATTTACATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0216 a0001c0002t0003g0216	1	224	0.0045	40	c.825 others(59): Show c.825+24981_825+24982insCATATATATATTTATATATATTTACA TATATATATTTATA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160925	T T	TTATATAT others(33): Show TTATATATTTATATATATATTTATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	224	0.0045	40	c.825 others(59): Show c.825+25367_825+25406dupATATATATATTTATATATTTATATAT ATTTATATATATTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(33): Show GTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0208 a0001c0001t0019g0208	1	231	0.0043	40	c.-28 others(59): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01891.hp2 HG02145.hp1 others(14): Show HG01261.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp2 NA18957.hp1 NA18984.hp1 NA19030.hp2 NA19065.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0019 a0001c0001t0040 others(10): Show a0001c0001t0010 a0001c0001t0019 a0001c0001t0040 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0075 a0001c0001t0081 a0001c0001t0093 a0001c0001t0129 a0001c0001t0149 a0001c0002t0094	a0001c0001t0010g0001 a0001c0001t0010g0083 a0001c0001t0010g0104 others(14): Show a0001c0001t0010g0001 a0001c0001t0010g0083 a0001c0001t0010g0104 a0001c0001t0010g0149 a0001c0001t0019g0068 a0001c0001t0019g0208 a0001c0001t0040g0129 a0001c0001t0044g0074 a0001c0001t0048g0180 a0001c0001t0049g0081 a0001c0001t0050g0155 a0001c0001t0075g0141 a0001c0001t0081g0108 a0001c0001t0093g0140 a0001c0001t0129g0134 a0001c0001t0149g0151 a0001c0002t0094g0051	17	231	0.0736	40	c.29 others(51): Show c.2906_*2907insATATATATATATATATATATATATATATGTAAAT ATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAGAGAGA others(33): Show AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0178 a0002c0006t0003g0178	1	370	0.0027	40	c.-47 others(57): Show c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA GAGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(33): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19084.hp2 HG00438.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0007 a0001c0026t0006 a0001c0001t0007 a0001c0026t0006	a0001c0001t0007g0196 a0001c0026t0006g0102 a0001c0001t0007g0196 a0001c0026t0006g0102	2	370	0.0054	40	c.-47 others(57): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54671089	C C	CTGAAGAG others(33): Show CTGAAGAGTAAGAAGTAGTGAAAATAAGGCTTAGTAAATCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0172 a0001c0003t0033g0172	1	370	0.0027	40	c.25 others(51): Show c.2553_*2554insTAAATCTTGAAGAGTAAGAAGTAGTGAAAATAAG GCTTAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	36/36	2554	INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(33): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	246	0.0041	40	c.130 others(59): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0068 a0001c0005t0047g0068	1	292	0.0034	40	c.118 others(59): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	344	0.0029	40	c.113 others(57): Show c.113-8242_113-8203dupACACACACACACACACACACACACACAC ACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0250 a0001c0001t0011g0250	1	444	0.0023	40	c.61- others(55): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	340	0.0029	40	c.-92 others(49): Show c.-928_-927insTATATATATATATATATATATATATATATATATATA TATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG03471.hp1 others(1): Show HG02055.hp1 HG02280.hp1 HG03471.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0010 a0003c0005t0011 a0001c0001t0010 a0003c0005t0011	a0001c0001t0010g0130 a0001c0001t0010g0163 a0003c0005t0011g0151 others(1): Show a0001c0001t0010g0130 a0001c0001t0010g0163 a0003c0005t0011g0151 a0003c0005t0011g0153	4	386	0.0104	40	c.91 others(47): Show c.91_*92insATATATATATATATATATATATATATATATATATATAT AT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRGAP1_chr12_63839700_64167217	63919521	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0116 a0001c0001t0148g0116	1	170	0.0059	40	c.68- others(57): Show c.68-64425_68-64424insTATATATATATATATATATATATATATA TATATACATACA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883336	A A	AGCGGCGC others(33): Show AGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	56	0.0179	40	c.88 others(51): Show c.8823_*8824insCGCGCCTTTCTGCCCGCCACGGCTTTTTCCCCCG CGCCGC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3951		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883343	C C	CGGGGGAA others(33): Show CGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03831.hp2 HG01109.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0046 a0001c0001t0016g0038 a0001c0001t0009g0046 a0001c0001t0016g0038	2	56	0.0357	40	c.88 others(51): Show c.8816_*8817insACGCCGCCGCGCCTTTCTGCCCGCCACGGCTTTT TCCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3944		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239282	C C	CTATATAT others(33): Show CTATATATATATATATATATAGTATATATATATATATACTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0100 a0002c0002t0031g0100	1	274	0.0037	40	c.68- others(57): Show c.68-45503_68-45502insTAGTATATATATATATATACTATATATA TATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRL_chr16_4184374_4247080	4204406	T T	TAGATACA others(33): Show TAGATACAGCCCCGGCCTCCAAGATACAGCCCCGGCCTCCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	358	0.0028	40	c.163 others(55): Show c.163+126_163+127insTGGAGGCCGGGGCTGTATCTTGGAGGCCGG GGCTGTATCT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	2/5			chr16	TogoVar
SRP68_chr17_76033785_76077517	76062730	T T	TATATATA others(33): Show TATATATATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0306 a0001c0003t0001g0306	1	365	0.0027	40	c.562 others(57): Show c.562-1157_562-1156insTTTATATATATATATATATTTTATATAT ATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0021 a0001c0007t0001g0021	1	352	0.0028	40	c.-28 others(51): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(33): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	416	0.0024	40	c.-27 others(51): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SS18L1_chr20_62138769_62187514	62160361	A A	ATGGGGAG others(33): Show ATGGGGAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 HG03139.hp2 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0003 a0005c0014t0024 a0001c0001t0003 a0005c0014t0024	a0001c0001t0003g0018 a0005c0014t0024g0031 a0001c0001t0003g0018 a0005c0014t0024g0031	2	316	0.0063	40	c.231 others(55): Show c.231+414_231+415insATGGGGAGAGGTGGGGAGAGGTGGGGTGGG GAGAGGTGGG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSBP3_chr1_54220432_54411394	54250381	A A	AATTCTGG others(33): Show AATTCTGGGATGGAGCAGAGGGCTGTGGTTCTGTGGGGCGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG03486.hp1 others(1): Show HG02257.hp2 HG02280.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0009t0001	a0001c0001t0001g0081 a0001c0001t0002g0023 a0001c0001t0013g0025 others(1): Show a0001c0001t0001g0081 a0001c0001t0002g0023 a0001c0001t0013g0025 a0001c0009t0001g0117	4	280	0.0143	40	c.651 others(57): Show c.651+1195_651+1234dupCCGCCCCACAGAACCACAGCCCTCTGCT CCATCCCAGAAT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	9/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0015 a0002c0003t0002g0015	1	412	0.0024	40	c.138 others(57): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00408.hp1 HG00609.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0024 a0002c0003 a0006c0024	a0002c0003t0002 a0006c0024t0001 a0002c0003t0002 a0006c0024t0001	a0002c0003t0002g0041 a0006c0024t0001g0063 a0002c0003t0002g0041 a0006c0024t0001g0063	2	412	0.0049	40	c.138 others(57): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results (Total: 6641 hits)