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
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATGTG others(29): Show GATATGTGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0268 a0002c0004t0002g0269 a0002c0004t0002g0268 a0002c0004t0002g0269	2	351	0.0057	36	c.175 others(53): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ACACATAT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016984	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	351	0.0029	36	c.175 others(53): Show c.1756+788_1756+789insCATATATATATATATATATATATATATA TATATATA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23016986	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03704.hp2 HG03831.hp1 others(1): Show HG02257.hp2 HG03704.hp2 HG03831.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220	4	351	0.0114	36	c.175 others(53): Show c.1756+786_1756+787insCATATATATATATATATATATATATATA TATATATA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23040561	C C	CCACCTGG others(29): Show CCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	351	0.0029	36	c.-10 others(47): Show c.-1019_-1018insAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGG TG	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		993		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23040742	G G	GTAACCCC others(29): Show GTAACCCCACCCGGCCAGAGGTGCTGTGGGGCCATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	351	0.0029	36	c.-12 others(47): Show c.-1200_-1199insTGATGGCCCCACAGCACCTCTGGCCGGGTGGGGT TA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1174		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042110	T T	TGGGATTT others(29): Show TGGGATTTCATAACCCCACCTGGCCAGAGGTGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA18981.hp1 HG02135.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0238 a0001c0001t0001g0026 a0001c0001t0001g0238	2	351	0.0057	36	c.-25 others(47): Show c.-2568_-2567insCCCGGCACCTCTGGCCAGGTGGGGTTATGAAATC CC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2542		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042434	T T	TGGGGGGT others(29): Show TGGGGGGTATCATAATCTGACCCGGCCAGAGATGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02647.hp1 HG00735.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0077 a0001c0002t0002g0078	2	351	0.0057	36	c.-28 others(47): Show c.-2892_-2891insCAGCATCTCTGGCCGGGTCAGATTATGATACCCC CC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2866		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042657	G G	GCGCTAGG others(29): Show GCGCTAGGGGGATAGCATAATCCCACCTGGCCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02132.hp2 NA18947.hp1 others(2): Show HG00597.hp2 HG02132.hp2 NA18947.hp1 NA18955.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0084 a0001c0002t0002g0100 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0084 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0115	5	351	0.0143	36	c.-31 others(47): Show c.-3115_-3114insTCTCTGGCCAGGTGGGATTATGCTATCCCCCTAG CG	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3089		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043200	C C	CACCTGGC others(29): Show CACCTGGCCAGAGGTGCTGGGGGGATTACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	351	0.0029	36	c.-36 others(47): Show c.-3658_-3657insTGGATTATGTAATCCCCCCAGCACCTCTGGCCAG GT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3632		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043200	C C	CACCTGGC others(29): Show CACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01109.hp2 others(25): Show HG00280.hp2 HG00597.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03471.hp2 HG03579.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18988.hp2 NA19030.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0070 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0270 a0001c0001t0001g0271	28	351	0.0798	36	c.-36 others(47): Show c.-3658_-3657insTGGGTTATGAAATCCCCCCAGCACCTCTGGCCAG GT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3632		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044106	T T	TGGGGGGT others(29): Show TGGGGGGTATCATAATCTGACCTGGCCAGAGATGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	351	0.0029	36	c.-45 others(47): Show c.-4564_-4563insCAGCATCTCTGGCCAGGTCAGATTATGATACCCC CC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4538		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044107	G G	GGGGGGGT others(29): Show GGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0034 a0001c0007t0001g0034	1	351	0.0029	36	c.-45 others(47): Show c.-4565_-4564insTAGCATCTCTGGCCAGGTGGGATTATGATACCCC CC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4539		chr15	TogoVar
TUBGCP6_chr22_50212694_50250023	50235263	C C	CGGCAACA others(29): Show CGGCAACATCCACATGCCTATCCACATGCCTGTCCAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0134 a0005c0006t0002g0134	1	436	0.0023	36	c.906 others(53): Show c.906-1738_906-1737insATGGACAGGCATGTGGATAGGCATGTGG ATGTTGCC	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	2/24			chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50235299	C C	CGGCAACA others(29): Show CGGCAACATCCACATGCCTATCCACATGCCTGTCCAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0117 a0001c0014t0002g0117	1	436	0.0023	36	c.906 others(53): Show c.906-1774_906-1773insATGGACAGGCATGTGGATAGGCATGTGG ATGTTGCC	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	2/24			chr22	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18972.hp2 HG02074.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0111 a0001c0001t0005g0106 a0001c0001t0002g0111 a0001c0001t0005g0106	2	268	0.0075	36	c.859 others(53): Show c.859+1241_859+1242insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03239.hp1 HG02451.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0277 a0001c0001t0005g0166 a0001c0001t0001g0277 a0001c0001t0005g0166	2	372	0.0054	36	c.138 others(55): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617120	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	372	0.0027	36	c.139 others(53): Show c.139-5947_139-5946insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10764693	A A	ATTGGAGC others(29): Show ATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	410	0.0024	36	c.43 others(47): Show c.4373_*4408dupCAGACTGACATACTCCAGCAGACTGAGATGCTCC AA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1981		chr16	TogoVar
TVP23A_chr16_10761675_10823794	10820480	A A	ATGTATAT others(29): Show ATGTATATGTATATATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03704.hp1 HG01255.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0257 a0001c0001t0006g0206 a0001c0001t0004g0257 a0001c0001t0006g0206	2	410	0.0049	36	c.-19 others(47): Show c.-1988_-1987insCATATACATATATATATATATATATATACATATA CA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1687		chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870835	C C	CACACACA others(29): Show CACACACACCACACACACATCACATACCACACACAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00735.hp2 others(6): Show HG00140.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp2 HG02735.hp1 HG03704.hp1 HG03710.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0001g0199 others(6): Show a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0252 a0001c0001t0001g0281 a0001c0001t0002g0217	9	338	0.0266	36	c.35 others(55): Show c.35+22102_*35+22103insACACACACCACACACACATCACATAC CACACACAAA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	264	0.0038	36	c.-40 others(47): Show c.-4099_-4098insATATATATATATATATATATATATATATATATAT AT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 NA18967.hp1 others(1): Show HG02055.hp1 HG02572.hp1 NA18967.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0025 a0001c0005t0023 a0001c0001t0001 a0001c0001t0025 a0001c0005t0023	a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0025g0088 others(1): Show a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0025g0088 a0001c0005t0023g0025	4	264	0.0152	36	c.864 others(53): Show c.864+1081_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNDC9_chr2_99313982_99341333	99338993	A A	AATATATA others(29): Show AATATATATATACAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01358.hp2 HG01070.hp2 HG01071.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	370	0.0081	36	c.-27 others(47): Show c.-2788_-2787insATATATATATATATATATATATTTGTATATATAT AT	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		2661		chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104254640	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	302	0.0033	36	c.243 others(53): Show c.243+2963_243+2964insTATATATATATATATATATATATATATA TATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTCTCT others(29): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02683.hp2 HG02451.hp2 HG02615.hp1 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0005t0001g0119 a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0005t0001g0119	3	302	0.0099	36	c.304 others(53): Show c.304+9165_304+9166insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01243.hp2 others(17): Show HG00408.hp1 HG01168.hp2 HG01243.hp2 HG01257.hp1 HG02004.hp1 HG02145.hp1 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG03041.hp1 HG03239.hp2 HG03688.hp2 NA18906.hp1 NA18954.hp2 NA18963.hp1 NA18973.hp2 NA18980.hp2 NA19043.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0007g0207 a0001c0002t0001g0150 a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0297 a0001c0005t0001g0120	20	302	0.0662	36	c.304 others(53): Show c.304+9169_304+9204dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267283	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	302	0.0033	36	c.304 others(53): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104290720	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	302	0.0033	36	c.414 others(53): Show c.414+1683_414+1718dupATATATATATATATATATATATATATAT ATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0002 a0016c0013t0002	a0016c0013t0002g0064 a0016c0013t0002g0064	1	376	0.0027	36	c.194 others(53): Show c.194-4041_194-4040insTATATATATATATATATATATATATATA TATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0059 a0003c0004t0002g0059	1	376	0.0027	36	c.194 others(53): Show c.194-4067_194-4066insAAAATATATATATATATATATATATATA TATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYMP_chr22_50520752_50535012	50524453	A A	AGAAGGGA others(29): Show AGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	412	0.0024	36	c.12 others(47): Show c.1281_*1316dupAGGGGCAGCCCAGGCACTGTCCTGGGCCTTCCCT TC	TYMP	ENSG00000025708.14	transcript	ENST00000252029.8	protein_coding		1298		chr22	TogoVar
TYMS_chr18_652653_678578	666921	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	482	0.0021	36	c.455 others(53): Show c.455-2140_455-2139insAGATGGTGATGGTGATGGAGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667017	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	482	0.0021	36	c.455 others(53): Show c.455-2050_455-2049insTGATGGAGATGGTGATGGAGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667053	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	482	0.0021	36	c.455 others(53): Show c.455-2014_455-2013insTGATGGAGATGGTGATGGAGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667571	A A	AGATGGTG others(29): Show AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	482	0.0021	36	c.455 others(53): Show c.455-1478_455-1477insAGATGGTGATGGTGATGGTGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1_chr7_66991833_67244514	67210764	G G	GTCCGTCC others(29): Show GTCCGTCCATCCATCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01361.hp2 others(6): Show HG00738.hp2 HG01255.hp2 HG01361.hp2 HG01943.hp2 HG02004.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 a0002c0003t0002 a0002c0003t0004 a0002c0004t0002	a0002c0003t0002g0225 a0002c0003t0004g0205 a0002c0003t0004g0206 others(6): Show a0002c0003t0002g0225 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0004t0002g0283 a0002c0004t0002g0302 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0358	9	364	0.0247	36	c.197 others(57): Show c.1977+15430_1977+15431insGTCCATCCATCCATCCATCCATCC ATCCATCCATCC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0214 a0003c0006t0002g0214	1	310	0.0032	36	c.79- others(49): Show c.79-642_79-641insTATATACATATATATATATATATATATATATA TATA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(29): Show TATATATATATGTATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0022 a0003c0006t0002g0022	1	310	0.0032	36	c.79- others(49): Show c.79-659_79-658insGTATATATATATATATATATATATACATATAT ATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03130.hp1 NA18942.hp2 others(2): Show HG01123.hp1 HG03130.hp1 NA18942.hp2 NA18950.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0015 a0001c0001t0001 a0001c0003t0002 a0001c0003t0015	a0001c0001t0001g0217 a0001c0001t0001g0239 a0001c0003t0002g0034 others(2): Show a0001c0001t0001g0217 a0001c0001t0001g0239 a0001c0003t0002g0034 a0001c0003t0002g0207 a0001c0003t0015g0038	5	310	0.0161	36	c.79- others(53): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT ATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0249 a0001c0002t0005g0249	1	320	0.0031	36	c.124 others(55): Show c.1246-1589_1246-1588insAAAATATATATATATATATATATATA TATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	320	0.0031	36	c.124 others(55): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA TATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0264 a0001c0002t0002g0264	1	320	0.0031	36	c.124 others(55): Show c.1246-1555_1246-1554insTATATATATATATATATATATATATA TATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA52_chr19_18566857_18582550	18577575	C C	CGACGGGA others(29): Show CGACGGGAGGGGGGGGCGCGGGGGGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0002 a0001c0001t0041g0002	1	412	0.0024	36	c.24 others(47): Show c.2425_*2426insGACGGGAGGGGGGGGCGCGGGGGGGGGGGGGGGG GT	UBA52	ENSG00000221983.8	transcript	ENST00000442744.7	protein_coding		26		chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG03927.hp1 others(2): Show HG00408.hp2 HG00673.hp2 HG03927.hp1 NA18947.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0012g0052	5	380	0.0132	36	c.32- others(51): Show c.32-6023_32-6022insTATATATATATATATATATATATATATATA TATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	380	0.0026	36	c.562 others(53): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(29): Show CCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20300.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0153 a0001c0001t0003g0046 a0001c0001t0001g0153 a0001c0001t0003g0046	2	342	0.0059	36	c.-7- others(53): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0348 a0001c0003t0001g0348	1	356	0.0028	36	c.-42 others(55): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT TTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03704.hp2 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0352 a0001c0003t0001g0295 a0001c0003t0001g0352	2	356	0.0056	36	c.-42 others(55): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBC_chr12_124906646_124919650	124907764	T T	TATATATG others(29): Show TATATATGAATATATGAATATATATATGAATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0028 a0001c0012t0001g0028	1	446	0.0022	36	c.39 others(47): Show c.3949_*3950insTCATATATTCATATATATATTCATATATTCATAT AT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3881		chr12	TogoVar
UBE2B_chr5_134366569_134397108	134376364	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00408.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0002g0213 a0001c0001t0001g0141 a0001c0001t0002g0213	2	282	0.0071	36	c.126 others(51): Show c.126-304_126-303insTATATATATATATATATATATATATATATA TATACA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)