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
STK32B_chr4_5046480_5505989	5254965	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0129	1	170	0.0059	34	c.261 others(53): Show c.261-76243_261-76242insATATATATATATATATATATATATAT ATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5370996	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	170	0.0059	34	c.435 others(53): Show c.435-27210_435-27209insGTGTGTGTATATATATATATATATAT ATGTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02109.hp1 HG02257.hp1 others(9): Show HG02071.hp2 HG02109.hp1 HG02257.hp1 HG02886.hp2 HG03130.hp2 HG03209.hp1 NA18941.hp1 NA18946.hp2 NA18957.hp1 NA18998.hp1 NA19063.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0002c0003t0001 a0002c0003t0006	a0001c0002t0001g0179 a0001c0002t0001g0231 a0001c0002t0001g0236 others(9): Show a0001c0002t0001g0179 a0001c0002t0001g0231 a0001c0002t0001g0236 a0001c0002t0001g0290 a0001c0002t0001g0310 a0001c0002t0001g0321 a0001c0002t0005g0239 a0001c0002t0005g0318 a0001c0002t0007g0229 a0001c0002t0007g0324 a0002c0003t0001g0240 a0002c0003t0006g0257	12	334	0.0359	34	c.947 others(49): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STK38L_chr12_27239286_27330959	27306714	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18979.hp2 NA19085.hp1 HG02015.hp1 NA18979.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161	3	374	0.0080	34	c.187 others(51): Show c.187-1619_187-1586dupCACACACACACACACACACACACACACA CACACA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	270	0.0037	34	c.208 others(51): Show c.208+4667_208+4668insATATATATATATATATATATATATATAT TTTTTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK4_chr20_44961512_45085021	45011708	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0150 a0002c0002t0003g0150	1	328	0.0031	34	c.114 others(55): Show c.1147+10377_1147+10378insATATATATATATATATATATATAT ATATATATAT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STK4_chr20_44961512_45085021	45062989	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	328	0.0031	34	c.130 others(55): Show c.1306-11999_1306-11998insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STN1_chr10_103872569_103923184	103875859	G G	GTCTCTCT others(27): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 NA18955.hp2 NA18979.hp1 others(5): Show HG01361.hp2 NA18955.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp2 NA19009.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0003c0004t0005	a0001c0001t0003g0098 a0001c0001t0005g0035 a0001c0001t0005g0036 others(4): Show a0001c0001t0003g0098 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0325 a0001c0001t0005g0329 a0001c0001t0016g0330 a0003c0004t0005g0034	8	382	0.0209	34	c.68 others(45): Show c.6824_*6825insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding		1709		chr10	TogoVar
STOM_chr9_121333987_121375250	121357424	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01256.hp1 HG02074.hp2 others(8): Show HG01255.hp1 HG01256.hp1 HG02074.hp2 HG03490.hp1 HG03834.hp1 HG03942.hp2 NA18955.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0115 others(8): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0115 a0001c0001t0001g0152 a0001c0001t0003g0053 a0001c0001t0003g0124 a0001c0001t0003g0218 a0001c0001t0003g0228 a0001c0001t0004g0136 a0001c0001t0004g0261 a0001c0001t0013g0077	11	386	0.0285	34	c.62- others(49): Show c.62-1269_62-1268insATATATATATATATATATATATATATATAT ATAT	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STOM_chr9_121333987_121375250	121357437	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18941.hp2 NA18952.hp1 others(1): Show HG01433.hp2 NA18941.hp2 NA18952.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0238 a0001c0001t0004g0253 a0001c0001t0009g0042 a0001c0001t0003g0238 a0001c0001t0004g0253 a0001c0001t0009g0042	4	386	0.0104	34	c.62- others(49): Show c.62-1282_62-1281insAATATATATATATATATATATATATATATA TATA	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STON2_chr14_81255652_81405324	81308824	A A	ATATATGT others(27): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0027 a0002c0010t0027	a0002c0010t0027g0256 a0002c0010t0027g0256	1	264	0.0038	34	c.742 others(53): Show c.742+15192_742+15193insCACACACACACACACACACACACACA CACATATA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STPG2_chr4_97553872_98148476	97616092	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	266	0.0038	34	c.132 others(55): Show c.1321-56976_1321-56975insCATATATATATATATATATATATA TATATATATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(27): Show CACACACACACACACATACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	352	0.0028	34	c.21 others(45): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTATGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(27): Show CACACACACACACACAGAGTGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG04115.hp2 HG01256.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0208 a0001c0001t0001g0091 a0001c0001t0001g0208	2	352	0.0057	34	c.19 others(45): Show c.1977_*1978insCTCTCTCTCTCTCTCACTCTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STPG4_chr2_47081991_47160308	47092551	A A	AGGGAGGG others(27): Show AGGGAGGGGAGGGAGAAGGGGAGGGGAGGGAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18946.hp1 HG01109.hp1 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0274 a0002c0002t0001g0272 a0001c0001t0001g0274 a0002c0002t0001g0272	2	352	0.0057	34	c.520 others(51): Show c.520-2211_520-2178dupCTTCTCCCTCCCCTCCCCTTCTCCCTCC CCTCCC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	324	0.0031	34	c.-45 others(51): Show c.-45+1633_-45+1634insGTGTGTGTATATATATATATATATATAT ATATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRADA_chr17_63697832_63746799	63740147	T T	TATACACA others(27): Show TATACACATACATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	324	0.0031	34	c.-45 others(51): Show c.-45+1593_-45+1594insGTGTGTGTGTGTGTGTGTATATATGTAT GTGTAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRN_chr2_36832698_36971536	36948081	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0250 a0001c0001t0147g0250	1	302	0.0033	34	c.234 others(53): Show c.234+18115_234+18148dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STX18_chr4_4413968_4547048	4527773	A A	ATTATATA others(27): Show ATTATATATATATAATTTTATATATATATATGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01070.hp2 others(38): Show HG00140.hp2 HG00280.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG02129.hp1 HG02145.hp2 HG02293.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03540.hp2 HG03834.hp1 NA18940.hp1 NA18950.hp2 NA18960.hp2 NA18961.hp1 NA18978.hp1 NA18993.hp2 NA18998.hp2 NA19010.hp1 NA19054.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0066 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0106 a0001c0001t0002g0210 a0001c0001t0011g0234	41	246	0.1667	34	c.168 others(53): Show c.168+13990_168+14023dupAAACATATATATATATAAAATTATAT ATATATAA	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX18_chr4_4413968_4547048	4527867	C C	CACACACA others(27): Show CACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0003 a0007c0008t0002g0003	1	246	0.0041	34	c.168 others(53): Show c.168+13929_168+13930insATATATATATATATATATATGTGTGT GTGTGTGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0051 a0003c0003t0003g0051	1	380	0.0026	34	c.205 others(51): Show c.205+3503_205+3504insATATATATATATATATATATATTTTTTT TTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18972.hp2 HG03710.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0106 a0002c0002t0002g0088 a0002c0002t0002g0106	2	380	0.0053	34	c.205 others(51): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT TTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130839548	T T	TATGCCGA others(27): Show TATGCCGAACCTTCTCTTTAAGGGTCCACGCGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	380	0.0026	34	c.-45 others(43): Show c.-450_-449insCTGCGCGTGGACCCTTAAAGAGAAGGTTCGGCAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		299		chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(27): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	350	0.0029	34	c.-35 others(43): Show c.-356_-355insGAGAGGAGAGAGAGGAGAGAGAGAGAGAGATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STXBP2_chr19_7632110_7652873	7644000	G G	GTGAGGGG others(27): Show GTGAGGGGTGGAACCTTGGAGAGCTGAGACCTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01123.hp2 others(12): Show HG01069.hp2 HG01099.hp2 HG01123.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG02300.hp1 NA18969.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0011c0019t0001 a0001c0001t0001 a0011c0019t0001	a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0001t0001g0108 a0011c0019t0001g0065	15	428	0.0351	34	c.110 others(51): Show c.1108-599_1108-598insTGGAGAGCTGAGACCTGGATGAGGGGTG GAACCT	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP2_chr19_7632110_7652873	7644166	C C	CTGGGTGA others(27): Show CTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp2 NA19043.hp2 HG02965.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0026 a0001c0003t0005g0026 a0001c0003t0001g0026 a0001c0003t0005g0026	3	428	0.0070	34	c.110 others(51): Show c.1108-429_1108-428insTGGAGAGGTGGGACTTGGGTGAGGGGTG GAGCCT	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP3_chr1_108741674_108814523	108772038	A A	ATATCTAT others(27): Show ATATCTATATATCATATATAAATACATATGATATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19079.hp1 HG01106.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0105 a0001c0001t0002g0051 a0001c0001t0002g0105	2	334	0.0060	34	c.439 others(49): Show c.439-498_439-465dupATGATATCTATCTATATATCATATATAAAT ACAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108782904	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	334	0.0030	34	c.963 others(49): Show c.963+202_963+203insTTTTTTTTTTTTTTTTTTTTTTTTTTATTT TTTT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5_chr6_147199417_147395473	147213434	A A	ATATATGT others(27): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0174 a0002c0002t0008g0174	1	350	0.0029	34	c.248 others(51): Show c.248+7367_248+7368insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA20300.hp2 HG00544.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0192 a0003c0003t0005g0245 a0001c0001t0001g0192 a0003c0003t0005g0245	2	280	0.0071	34	c.106 others(55): Show c.1063-21623_1063-21622insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637559	T T	TATATAGA others(27): Show TATATAGAGCTGTTGGGGGGGGGTGTTGGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0065 a0001c0002t0025g0065	1	268	0.0037	34	c.74 others(45): Show c.7404_*7405insATATAGAGCTGTTGGGGGGGGGTGTTGGTGTATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4025		chr10	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	310	0.0032	34	c.13 others(47): Show c.13967_*13968insACACACACACACACACACACACACACACACAC AC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULF1_chr8_69487847_69665912	69616128	G G	GTGTATAT others(27): Show GTGTATATATATATACACACATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0279 a0002c0002t0016g0279	1	296	0.0034	34	c.137 others(53): Show c.1378-4906_1378-4905insGTATATATATATACACACATATATAT GTGTGTAT	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULT1C3_chr2_108234968_108265886	108254805	A A	ATATGTAT others(27): Show ATATGTATATATGTGTATATATATGCATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03239.hp2 HG03704.hp2 others(11): Show HG02129.hp1 HG03239.hp2 HG03704.hp2 HG04115.hp1 NA18951.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18992.hp2 NA19077.hp2 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0018 a0004c0005t0001g0019 a0004c0005t0001g0032 others(5): Show a0004c0005t0001g0018 a0004c0005t0001g0019 a0004c0005t0001g0032 a0004c0005t0001g0033 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058	14	376	0.0372	34	c.400 others(49): Show c.400-745_400-744insTGCATATATATGTATGTATATATGTGTATA TATA	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(27): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	376	0.0027	34	c.214 others(49): Show c.214+280_214+281insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUMF1_chr3_4356146_4472269	4456640	A A	ATATATAT others(27): Show ATATATATATGTGTGTGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01934.hp1 HG01257.hp1 HG01258.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0011 a0001c0002t0001g0317 a0001c0001t0003g0011 a0001c0002t0001g0317	3	392	0.0077	34	c.271 others(51): Show c.271-3592_271-3591insCACGTATATATATATATACACACACATA TATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4457058	G G	GTGTATAT others(27): Show GTGTATATATATATATATATACGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18997.hp1 NA19012.hp1 others(1): Show HG01123.hp2 NA18997.hp1 NA19012.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0327 a0001c0001t0002g0366 a0001c0001t0003g0329 others(1): Show a0001c0001t0002g0327 a0001c0001t0002g0366 a0001c0001t0003g0329 a0001c0001t0004g0328	4	392	0.0102	34	c.271 others(51): Show c.271-4010_271-4009insTATATACACACACGTATATATATATATA TATACA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4457058	G G	GTGTATAT others(27): Show GTGTATATATATATATATATACGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG03453.hp2 HG02559.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0320 a0001c0001t0002g0319 a0001c0001t0010g0321 a0001c0001t0001g0320 a0001c0001t0002g0319 a0001c0001t0010g0321	3	392	0.0077	34	c.271 others(51): Show c.271-4010_271-4009insTATACACACACACGTATATATATATATA TATACA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF2_chr7_56059286_56085670	56075856	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	412	0.0024	34	c.536 others(49): Show c.536-972_536-971insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUMF2	ENSG00000129103.19	transcript	ENST00000434526.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUMO2_chr17_75160586_75187959	75162278	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	398	0.0025	34	c.60 others(45): Show c.6027_*6060dupATATATATATATATATATATATATATATATATAT	SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding		3307		chr17	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02109.hp1 HG01981.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0077 a0002c0002t0001g0080	2	382	0.0052	34	c.212 others(49): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA GAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(27): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	422	0.0024	34	c.-14 others(45): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24360488	C C	CACACACA others(27): Show CACACACACACACGTACACACATACACACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03209.hp1 HG03225.hp1 HG01952.hp1 HG03209.hp1 HG03225.hp1	a0004 a0004	a0004c0004 a0004c0030 a0004c0004 a0004c0030	a0004c0004t0003 a0004c0030t0003 a0004c0004t0003 a0004c0030t0003	a0004c0004t0003g0000 a0004c0030t0003g0000 a0004c0004t0003g0000 a0004c0030t0003g0000	3	316	0.0095	34	c.-22 others(45): Show c.-2273_-2272insACACACACACACGTACACACATACACACACACTG	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		150		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	45120417	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	262	0.0038	34	c.102 others(53): Show c.102-14412_102-14411insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(27): Show GCATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	262	0.0038	34	c.102 others(55): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18948.hp1 HG00621.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0236 a0001c0001t0001g0079 a0001c0001t0001g0236	2	262	0.0076	34	c.101 others(55): Show c.101+111352_101+111353insATATATATATATATATATATATAT ATATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253872	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18952.hp2 HG01433.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0075 a0001c0001t0001g0077	2	262	0.0076	34	c.101 others(55): Show c.101+111328_101+111329insGTATATATATATATATATATATAT ATATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01256.hp2 others(8): Show HG00099.hp1 HG00558.hp1 HG01256.hp2 HG01433.hp1 HG02622.hp1 HG02922.hp2 HG03195.hp2 HG03654.hp2 NA18957.hp1 NA18980.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008	a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001	a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 others(8): Show a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0006t0001g0166 a0001c0008t0001g0170	11	236	0.0466	34	c.-32 others(51): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD1_chr9_112035783_112180297	112086562	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 HG02895.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0086 a0001c0003t0004g0144 a0001c0001t0001g0086 a0001c0003t0004g0144	2	338	0.0059	34	c.147 others(53): Show c.1475-6398_1475-6397insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	10/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268011	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	276	0.0036	34	c.535 others(49): Show c.535+490_535+491insTATATATATATATATATATATATATATATA TATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar

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Search Results (Total: 7994 hits)