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 (≤).

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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
TUSC3_chr8_15535263_15771638	15648725	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	372	0.0027	44	c.309 others(61): Show c.309-1941_309-1940insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10820476	A A	ATATATAT others(37): Show ATATATATGTATATGTATATATATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	410	0.0024	44	c.-19 others(55): Show c.-1984_-1983insCATATACATATATATATATATATATATATACATA TACATATATA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1683		chr16	TogoVar
TVP23A_chr16_10761675_10823794	10820478	A A	ATATATAT others(37): Show ATATATATGTATATGTATATATATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18982.hp2 HG02132.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0199 a0001c0001t0001g0146 a0001c0001t0002g0199	2	410	0.0049	44	c.-19 others(55): Show c.-1986_-1985insCATATACATATATATATATATATATATATACATA TACATATATA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1685		chr16	TogoVar
TWF2_chr3_52223612_52244158	52234602	C C	CTCCTTCT others(37): Show CTCCTTCTCGCCGCATCTGGGGCATCAAAGTGAAGGTACTGTTCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	366	0.0027	44	c.103 others(59): Show c.103+426_103+427insAGAACAGTACCTTCACTTTGATGCCCCAGA TGCGGCGAGAAGGA	TWF2	ENSG00000247596.10	transcript	ENST00000305533.10	protein_coding	2/8			chr3	TogoVar
TWIST2_chr2_238843085_238915534	238870635	C C	CTACACAC others(37): Show CTACACACACCACACACCCCACACACACATCACACACCACACACA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18971.hp1 NA18962.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0274 a0001c0001t0003g0109 a0001c0001t0001g0274 a0001c0001t0003g0109	2	338	0.0059	44	c.35 others(63): Show c.35+21902_*35+21903insTACACACACCACACACCCCACACACA CATCACACACCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp1 HG00544.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0251 a0001c0001t0007g0097 a0001c0001t0001g0251 a0001c0001t0007g0097	2	264	0.0076	44	c.864 others(61): Show c.864+1073_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0276 a0001c0006t0001g0276	1	302	0.0033	44	c.243 others(61): Show c.243+2967_243+2968insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18747.hp1 NA18962.hp2 others(1): Show HG04228.hp1 NA18747.hp1 NA18962.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0270	4	302	0.0133	44	c.304 others(61): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXN_chr9_110238810_110261507	110244299	T T	TTATATAT others(37): Show TTATATATATACATATACATATGTATATATATACATATACATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG01261.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0227 a0001c0001t0001g0177 a0001c0001t0001g0227	2	466	0.0043	44	c.256 others(57): Show c.256-81_256-80insCATATGTATATGTATATATATACATATGTATA TGTATATATATA	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	4/4			chr9	TogoVar
TYW1_chr7_66991833_67244514	67029401	G G	GTATATAT others(37): Show GTATATATACATATATATATATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp2 HG01515.hp1 others(7): Show HG00642.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA19003.hp2 NA19067.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 others(7): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0279	10	364	0.0275	44	c.984 others(61): Show c.984+4380_984+4381insATATATACATATATATATATACATATAT ATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029407	G G	GTATATAT others(37): Show GTATATATATACATATATATATATATACACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18971.hp2 NA18981.hp1 others(1): Show HG00733.hp2 NA18971.hp2 NA18981.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0173 a0001c0001t0001g0253	4	364	0.0110	44	c.984 others(61): Show c.984+4386_984+4387insATATATATACATATATATATATATACAC ATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029411	G G	GTATATAT others(37): Show GTATATATATACATATATATATATATACACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	364	0.0028	44	c.984 others(61): Show c.984+4390_984+4391insATATATATACATATATATATATATACAC ATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67210764	G G	GTCCGTCC others(37): Show GTCCGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0306 a0002c0004t0002g0306	1	364	0.0028	44	c.197 others(65): Show c.1977+15430_1977+15431insGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
U2SURP_chr3_142996570_143065725	143031405	C C	CAACCTTC others(37): Show CAACCTTCAGCTACCACCACCCTAACCTTCAGCTACCACCACCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02486.hp1 HG02486.hp2 others(19): Show HG02080.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 NA18948.hp2 NA18951.hp2 NA18980.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19009.hp1 NA19066.hp1 NA19085.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0009 a0001c0001 a0002c0003 a0005c0009	a0001c0001t0004 a0001c0001t0013 a0001c0001t0023 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0023 a0002c0003t0004 a0005c0009t0004	a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0237 others(18): Show a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0013g0255 a0001c0001t0023g0247 a0002c0003t0004g0014 a0002c0003t0004g0243 a0005c0009t0004g0245	22	378	0.0582	44	c.161 others(63): Show c.1611-1362_1611-1361insACCCTAACCTTCAGCTACCACCACCC TAACCTTCAGCTACCACC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
U2SURP_chr3_142996570_143065725	143031423	G G	GCCCTAAC others(37): Show GCCCTAACCTTCAGCTACCACCACCCTAACCTTCAGCTACCACCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01169.hp1 others(2): Show HG00735.hp2 HG01106.hp1 HG01169.hp1 HG01256.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0166 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0261	5	378	0.0132	44	c.161 others(63): Show c.1611-1356_1611-1313dupAACCTTCAGCTACCACCACCCTAACC TTCAGCTACCACCACCCT	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG02083.hp2 HG01069.hp2 HG01192.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0039 a0001c0003t0002g0041 a0001c0003t0002g0016 a0001c0003t0002g0039 a0001c0003t0002g0041	3	310	0.0097	44	c.79- others(61): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT ATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0262 a0001c0002t0002g0262	1	320	0.0031	44	c.124 others(63): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA TATATATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(37): Show CCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19088.hp1 HG03471.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0027 a0001c0001t0001g0075	2	342	0.0059	44	c.-7- others(61): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981226	G G	GATATATA others(37): Show GATATATATATATATTCTGGATATATATATATATATTCTGGATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0242 a0002c0001t0002g0242	1	356	0.0028	44	c.520 others(61): Show c.520+5533_520+5534insATATCCAGAATATATATATATATATCCA GAATATATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	356	0.0028	44	c.-42 others(63): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19082.hp2 HG00544.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0207 a0001c0002t0001g0136 a0001c0002t0001g0207	2	356	0.0056	44	c.-42 others(63): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18971.hp1 HG03017.hp2 NA18971.hp1	a0001 a0016 a0001 a0016	a0001c0003 a0016c0019 a0001c0003 a0016c0019	a0001c0003t0006 a0016c0019t0001 a0001c0003t0006 a0016c0019t0001	a0001c0003t0006g0330 a0016c0019t0001g0337 a0001c0003t0006g0330 a0016c0019t0001g0337	2	356	0.0056	44	c.-42 others(63): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	356	0.0028	44	c.-42 others(63): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBC_chr12_124906646_124919650	124907762	T T	TATATATA others(37): Show TATATATATGAATATATATATATGAATATATGAATATATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	446	0.0022	44	c.39 others(55): Show c.3951_*3952insTCATATATATATTCATATATTCATATATATATAT TCATATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3883		chr12	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAA others(37): Show AAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	282	0.0036	44	c.126 others(59): Show c.126-320_126-319insAAAAAATATATATATATATATATATATATA TATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	336	0.0030	44	c.509 others(63): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2L5_chr13_30417493_30434758	30421904	A A	AGGGGAGG others(37): Show AGGGGAGGAGGGAGAGGTGGGGCGGGGAGGAGGGAGAGGTGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01433.hp2 others(7): Show HG00639.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG02055.hp1 HG02559.hp1 HG02572.hp1 HG02895.hp1 HG03239.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002 a0001c0002t0008	a0001c0001t0003g0014 a0001c0001t0006g0006 a0001c0001t0011g0011 others(3): Show a0001c0001t0003g0014 a0001c0001t0006g0006 a0001c0001t0011g0011 a0001c0001t0011g0017 a0001c0002t0002g0002 a0001c0002t0008g0002	10	430	0.0233	44	c.-15 others(55): Show c.-1552_-1551insGGGGAGGAGGGAGAGGTGGGGCGGGGAGGAGGGA GAGGTGGGGC	UBE2L5	ENSG00000236444.5	transcript	ENST00000635918.2	protein_coding		588		chr13	TogoVar
UBE2L5_chr13_30417493_30434758	30421952	G G	GAGGAGGG others(37): Show GAGGAGGGAGAGGTGGGGCGGGGAGGAGGGAGAGGTGGGTCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	430	0.0047	44	c.-15 others(55): Show c.-1504_-1503insAGGAGGGAGAGGTGGGGCGGGGAGGAGGGAGAGG TGGGTCGGGA	UBE2L5	ENSG00000236444.5	transcript	ENST00000635918.2	protein_coding		540		chr13	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(37): Show GTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0318 a0001c0001t0022g0318	1	366	0.0027	44	c.178 others(61): Show c.178-9055_178-9054insGTCTGTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBN1_chr16_4842481_4887401	4883844	G G	GGAAGGGT others(37): Show GGAAGGGTGAGAAAAAAAAAAAAAAAAAAAAAAGAGGAGAGATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0006 a0003c0006t0001g0006	1	376	0.0027	44	c.37 others(55): Show c.3712_*3713insGAAGGGTGAGAAAAAAAAAAAAAAAAAAAAAAGA GGAGAGATAC	UBN1	ENSG00000118900.15	transcript	ENST00000262376.11	protein_coding		1444		chr16	TogoVar
UBR3_chr2_169822454_170089131	169831107	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0125 a0001c0002t0007g0125	1	324	0.0031	44	c.545 others(61): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATATATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01256.hp1 HG01257.hp2 others(10): Show HG00544.hp1 HG01256.hp1 HG01257.hp2 HG01943.hp1 HG02074.hp2 HG02300.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp2 NA18950.hp2 NA18982.hp2 NA18999.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0020 a0001c0002 a0001c0009 a0001c0020	a0001c0002t0002 a0001c0009t0002 a0001c0020t0002 a0001c0002t0002 a0001c0009t0002 a0001c0020t0002	a0001c0002t0002g0128 a0001c0002t0002g0139 a0001c0002t0002g0142 others(10): Show a0001c0002t0002g0128 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0009t0002g0308 a0001c0009t0002g0310 a0001c0020t0002g0305	13	324	0.0401	44	c.103 others(61): Show c.1039-601_1039-600insATATATATATATATATATGTGTGTATAT ATATATGTATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890557	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0273 a0001c0007t0007g0273	1	324	0.0031	44	c.103 others(61): Show c.1039-601_1039-600insATATATATATATATATATATGTGTATAT ATATATATGTATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370228	T T	TGTGTATG others(37): Show TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG01975.hp2 others(2): Show HG01952.hp1 HG01952.hp2 HG01975.hp2 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0380 others(2): Show a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0380 a0001c0002t0003g0381 a0001c0002t0003g0382	5	468	0.0107	44	c.-6- others(59): Show c.-6-3483_-6-3482insATGTGTGTGTATATGTGTGTATATGTGTGT GTGTATATGCGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370313	G G	GTGTATAT others(37): Show GTGTATATGCGTGTGTGTGTGTATATGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03669.hp1 HG01168.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	2	468	0.0043	44	c.-6- others(59): Show c.-6-3401_-6-3400insGTATATGCGTGTGTGTGTGTATATGTGTGT GTATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370881	A A	ATGTGTGT others(37): Show ATGTGTGTATATGTGTGTATATGTGTGTGTATATGCGTGTGTATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp1 HG03017.hp1 others(2): Show HG00597.hp1 HG02083.hp1 HG03017.hp1 NA19007.hp1 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0161 others(2): Show a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0161 a0001c0002t0002g0384 a0001c0002t0007g0189	5	468	0.0107	44	c.-6- others(59): Show c.-6-2832_-6-2831insTGTGTATATGTGTGTATATGTGTGTGTATA TGCGTGTGTATGTG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5371370	G G	GTGTGTGT others(37): Show GTGTGTGTATATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0090 a0001c0002t0020g0090	1	468	0.0021	44	c.-6- others(59): Show c.-6-2344_-6-2343insGTGTGTATATGCGTGTGTATATGCGTGTGT GTATGCGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCP2_chr11_73969672_73987843	73974851	A A	AGAAAGAG others(37): Show AGAAAGAGGGAAGGTGGTAGGTAAAGGAGCGGAAGGAAGAGGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0021 a0008c0007t0021	a0008c0007t0021g0068 a0008c0007t0021g0068	1	420	0.0024	44	c.11 others(53): Show c.112_*155dupCCACCTCTTCCTTCCGCTCCTTTACCTACCACCTTC CCTCTTTC	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding	8/8	155		chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560138	C C	CACACACA others(37): Show CACACACACACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0327 a0002c0005t0005g0327	1	400	0.0025	44	c.613 others(61): Show c.613-1809_613-1808insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(10): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01934.hp2 HG01978.hp2 HG03669.hp2 HG04228.hp1 NA18950.hp2 NA18980.hp2 NA19011.hp2 NA19057.hp1 NA19083.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0001c0017 others(2): Show a0001c0001 a0001c0003 a0001c0017 a0003c0006 a0007c0013	a0001c0001t0011 a0001c0003t0002 a0001c0003t0007 others(5): Show a0001c0001t0011 a0001c0003t0002 a0001c0003t0007 a0001c0003t0014 a0001c0003t0028 a0001c0017t0007 a0003c0006t0007 a0007c0013t0002	a0001c0001t0011g0038 a0001c0001t0011g0085 a0001c0001t0011g0112 others(10): Show a0001c0001t0011g0038 a0001c0001t0011g0085 a0001c0001t0011g0112 a0001c0003t0002g0182 a0001c0003t0002g0191 a0001c0003t0007g0183 a0001c0003t0007g0217 a0001c0003t0014g0216 a0001c0003t0014g0224 a0001c0003t0028g0225 a0001c0017t0007g0227 a0003c0006t0007g0204 a0007c0013t0002g0214	13	332	0.0392	44	c.522 others(59): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2A1_chr4_69583417_69658247	69620379	A A	AAAATGCC others(37): Show AAAATGCCTAGGAATACAGCTAAAAAAGAATAAAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02922.hp1 HG02976.hp2 others(5): Show HG02602.hp2 HG02922.hp1 HG02976.hp2 HG03834.hp1 HG04204.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0009 a0001c0001 a0001c0007 a0003c0009	a0001c0001t0001 a0001c0007t0001 a0003c0009t0002 a0001c0001t0001 a0001c0007t0001 a0003c0009t0002	a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0186 others(5): Show a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0186 a0001c0001t0001g0308 a0001c0001t0001g0356 a0001c0007t0001g0107 a0001c0007t0001g0213 a0003c0009t0002g0214	8	376	0.0213	44	c.847 others(63): Show c.847+15311_847+15312insATTTTTATTTTTTTATTCTTTTTTAG CTGTATTCCTAGGCATTT	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	3/6			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69620379	A A	AAAATGCC others(37): Show AAAATGCCTAGGAATACAGCTAAAAAAGAATAAAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02922.hp1 HG02976.hp2 others(6): Show HG02602.hp2 HG02922.hp1 HG02976.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0186 a0001c0001t0001g0298 a0002c0002t0002g0056	9	378	0.0238	44	c.742 others(63): Show c.742+18519_742+18520insATTTTTATTTTTTTATTCTTTTTTAG CTGTATTCCTAGGCATTT	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	410	0.0024	44	c.-10 others(55): Show c.-1077_-1034dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTTCG others(37): Show CGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	344	0.0029	44	c.218 others(61): Show c.2182+106_2182+107insGGTTCGGCTTGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(37): Show CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0075 a0001c0012t0001g0075	1	344	0.0029	44	c.218 others(61): Show c.2182+158_2182+159insGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(37): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	344	0.0029	44	c.218 others(61): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(37): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0070 a0001c0002t0014g0070	1	344	0.0029	44	c.218 others(61): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(37): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02486.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0005 a0001c0002t0001 a0001c0003t0005	a0001c0002t0001g0085 a0001c0003t0005g0320 a0001c0002t0001g0085 a0001c0003t0005g0320	2	344	0.0058	44	c.218 others(61): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(37): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18946.hp1 HG03139.hp1 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0001 a0002c0008t0004 a0001c0005t0001 a0002c0008t0004	a0001c0005t0001g0205 a0002c0008t0004g0133 a0001c0005t0001g0205 a0002c0008t0004g0133	2	344	0.0058	44	c.218 others(61): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131918881	T T	TGTGTGGG others(37): Show TGTGTGGGGTGTGGGGTGTAGGGTGTGGGGTGTAGAGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG02258.hp2 others(4): Show HG00733.hp1 HG01175.hp2 HG02258.hp2 HG02559.hp2 HG03195.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0005 a0001c0002t0005 a0001c0003t0005	a0001c0002t0005g0092 a0001c0002t0005g0310 a0001c0002t0005g0317 others(4): Show a0001c0002t0005g0092 a0001c0002t0005g0310 a0001c0002t0005g0317 a0001c0002t0005g0322 a0001c0002t0005g0323 a0001c0003t0005g0319 a0001c0003t0005g0320	7	344	0.0204	44	c.251 others(61): Show c.2511+211_2511+212insGGGGTGTAGGGTGTGGGGTGTAGAGTGT GTGGGGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 4475 hits)