Q9C0C9
PR
Gene name |
UBE2O (KIAA1734) |
Protein name |
(E3-independent) E2 ubiquitin-conjugating enzyme |
Names |
E2/E3 hybrid ubiquitin-protein ligase UBE2O, Ubiquitin carrier protein O, Ubiquitin-conjugating enzyme E2 O, Ubiquitin-conjugating enzyme E2 of 230 kDa, Ubiquitin-conjugating enzyme E2-230K, Ubiquitin-protein ligase O |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:63893 |
EC number |
2.3.2.24: Aminoacyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9C0C9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7UN3 | EM | 350 A | A/D | 1-1292 | PDB |
| 7UN6 | EM | 330 A | A | 1-1292 | PDB |
| AF-Q9C0C9-F1 | Predicted | AlphaFoldDB |
839 variants for Q9C0C9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 3 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461612093 CA401156192 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA294168975 rs1002874456 |
5 | A>P | No |
ClinGen Ensembl |
|
|
CA401156168 rs1397232854 |
6 | A>T | No |
ClinGen gnomAD |
|
|
CA294168964 rs77537806 |
7 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs894724763 CA294168965 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA294168961 rs968037785 |
8 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 8 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481725067 CA401156127 |
9 | P>A | No |
ClinGen TOPMed |
|
|
rs923596414 CA294168956 |
9 | P>L | No |
ClinGen TOPMed |
|
|
CA401156088 rs1419290257 |
12 | P>R | No |
ClinGen TOPMed |
|
|
rs1005495817 CA294168952 |
12 | P>S | No |
ClinGen TOPMed |
|
|
CA401156081 rs1342895265 |
13 | A>P | No |
ClinGen TOPMed |
|
|
CA401156054 rs1188394736 |
15 | A>S | No |
ClinGen gnomAD |
|
|
CA401156035 rs1474441429 |
16 | Q>L | No |
ClinGen gnomAD |
|
|
rs887079483 CA294168938 |
17 | A>D | No |
ClinGen TOPMed |
|
|
rs1194545203 CA401155906 |
22 | P>A | No |
ClinGen gnomAD |
|
|
CA401155895 rs1245120922 |
22 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA294168927 rs553675941 |
25 | V>D | No |
ClinGen 1000Genomes |
|
|
CA401155824 rs1332738467 |
26 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401155787 rs1274874636 |
28 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401155760 rs1239472985 |
28 | P>L | No |
ClinGen TOPMed |
|
|
CA294168923 rs539053296 |
29 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 29 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556759579 CA294168918 |
32 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8786397 rs552502199 |
32 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273581522 CA401155691 |
33 | V>I | No |
ClinGen gnomAD |
|
|
rs964162594 CA294168914 |
37 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401155563 rs1405281237 |
39 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 41 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8786396 rs759459526 |
42 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs773900014 CA8786395 |
45 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456497326 CA401155398 |
46 | P>L | No |
ClinGen gnomAD |
|
|
rs1456497326 CA401155392 |
46 | P>Q | No |
ClinGen gnomAD |
|
|
rs1222562191 CA401155385 |
47 | S>P | No |
ClinGen gnomAD |
|
|
rs1302541398 CA401155360 |
48 | S>L | No |
ClinGen TOPMed |
|
|
rs955449380 CA294168897 |
49 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1287424968 CA401155327 |
50 | S>F | No |
ClinGen gnomAD |
|
|
CA401155319 rs1354242508 |
51 | G>C | No |
ClinGen gnomAD |
|
|
CA401155317 rs1354242508 |
51 | G>S | No |
ClinGen gnomAD |
|
|
CA401155305 rs1567861452 |
52 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA294168885 rs994156346 |
54 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401155242 rs1315806057 |
56 | S>A | No |
ClinGen TOPMed |
|
|
CA401155177 rs1347779520 |
61 | F>Y | No |
ClinGen gnomAD |
|
|
CA401155137 rs1301613834 |
63 | H>Q | No |
ClinGen gnomAD |
|
|
CA294168880 rs923564661 |
67 | S>A | No |
ClinGen Ensembl |
|
|
rs773027349 CA8786392 |
68 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456995191 CA401155020 |
71 | R>G | No |
ClinGen TOPMed |
|
|
rs770230462 CA401154972 |
73 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770230462 CA8786391 |
73 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442278775 CA401154956 |
74 | V>E | No |
ClinGen TOPMed |
|
|
rs1191881919 CA401154964 |
74 | V>M | No |
ClinGen gnomAD |
|
|
CA294168870 rs982193902 |
75 | H>Q | No |
ClinGen gnomAD |
|
|
CA401154810 rs1488485258 |
80 | R>C | No |
ClinGen gnomAD |
|
|
CA401154763 rs1162156282 |
82 | I>V | No |
ClinGen TOPMed |
|
|
CA294168852 rs970495356 |
91 | G>A | No |
ClinGen Ensembl |
|
|
CA401154529 rs1278650981 |
93 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA401154540 rs1167990741 |
93 | E>G | No |
ClinGen TOPMed |
|
|
CA401154504 rs1446321248 |
94 | E>D | No |
ClinGen TOPMed |
|
|
CA294168845 rs1056334315 |
97 | G>E | No |
ClinGen TOPMed |
|
|
CA8786386 rs548415910 |
98 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1023845827 CA294168844 |
101 | C>Y | No |
ClinGen Ensembl |
|
|
rs1363188867 CA401154276 |
104 | A>G | No |
ClinGen TOPMed |
|
|
CA8786383 rs765458710 |
105 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs750596537 CA8786384 |
105 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203872522 CA401154244 |
106 | G>D | No |
ClinGen TOPMed |
|
|
rs1345144244 CA401154249 |
106 | G>S | No |
ClinGen gnomAD |
|
|
rs1203872522 CA401154239 COSM707132 COSM707131 |
106 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA401154236 rs1176814150 |
107 | A>T | No |
ClinGen gnomAD |
|
|
CA401154226 rs1416234120 |
107 | A>V | No |
ClinGen gnomAD |
|
|
rs1264667955 CA401154200 |
109 | H>L | No |
ClinGen TOPMed |
|
|
CA401154198 rs1478292453 CA401154196 |
109 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1221005850 CA401154184 |
110 | E>G | No |
ClinGen Ensembl |
|
|
CA8786381 rs752536750 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1242211752 CA401154166 |
111 | E>D | No |
ClinGen TOPMed |
|
|
CA401154150 rs1476346136 |
112 | G>A | No |
ClinGen TOPMed |
|
|
CA8786379 rs759497833 |
113 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA294168829 rs991654858 |
113 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8786378 rs774193487 |
114 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8786377 rs765943714 |
115 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA294168827 rs959155905 |
115 | S>R | No |
ClinGen gnomAD |
|
|
CA401154119 rs1470171693 |
116 | P>L | No |
ClinGen TOPMed |
|
|
rs772937702 CA8786375 |
118 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs866724485 CA294168803 |
119 | R>L | No |
ClinGen Ensembl |
|
|
rs868788847 CA294168813 |
119 | R>S | No |
ClinGen Ensembl |
|
|
CA8786373 rs761439412 |
121 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450874342 CA401154041 |
122 | V>A | No |
ClinGen gnomAD |
|
|
CA8786372 rs777039022 |
122 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA294168796 rs865779156 |
123 | R>C | No |
ClinGen Ensembl |
|
|
CA8786371 rs768947981 |
125 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786368 rs772082702 |
132 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs893496556 CA294168762 |
132 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8786367 rs745952082 |
133 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA401153861 rs1433494606 |
134 | H>R | No |
ClinGen TOPMed |
|
|
rs1427700524 CA401153870 |
134 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA294168740 rs1005734802 |
139 | K>E | No |
ClinGen Ensembl |
|
|
rs757460900 CA8786365 |
139 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1314958297 CA401171628 |
143 | E>Q | No |
ClinGen gnomAD |
|
|
rs1241579539 COSM1386219 COSM1386220 CA401171598 |
145 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1598592137 CA401171585 |
147 | V>M | No |
ClinGen Ensembl |
|
|
CA294164564 rs1050115198 |
154 | R>Q | No |
ClinGen gnomAD |
|
|
rs775909210 CA8786349 |
155 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8786350 rs760961057 |
155 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8786347 rs746435300 |
156 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786348 rs772568120 |
156 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401171524 rs1421480635 |
157 | R>* | No |
ClinGen gnomAD |
|
|
CA401171525 rs1421480635 |
157 | R>G | No |
ClinGen gnomAD |
|
|
rs143709633 CA8786346 |
157 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770959050 CA8786345 |
158 | S>C | No |
ClinGen ExAC gnomAD |
|
| rs749483780 | 159 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433351753 CA401171511 |
159 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs148073031 CA8786323 |
160 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8786322 rs745754238 |
163 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs778730805 CA8786321 |
163 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8786320 rs756721426 |
165 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786318 rs144543657 |
167 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs897633492 CA294164387 COSM324157 COSM324156 |
168 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA401171438 rs1460986350 COSM1231550 COSM1231549 |
169 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA401171430 rs1258944628 |
170 | N>I | No |
ClinGen gnomAD |
|
|
CA8786314 rs149287414 |
172 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767830738 CA8786315 |
172 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245378929 CA401171399 |
174 | A>V | No |
ClinGen gnomAD |
|
|
rs376566042 CA8786312 |
175 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763580143 CA8786311 |
176 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769964343 CA401171373 |
179 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786309 rs769964343 |
179 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786307 rs777022274 |
181 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1312345324 CA401171360 |
181 | N>T | No |
ClinGen gnomAD |
|
|
rs1454516733 CA401171341 |
183 | I>M | No |
ClinGen gnomAD |
|
|
rs768023228 CA8786306 |
185 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267605061 CA294164315 |
186 | P>L | No |
ClinGen Ensembl |
|
|
rs757129683 CA8786303 |
187 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401171312 rs1444070428 |
188 | N>S | No |
ClinGen gnomAD |
|
|
CA8786301 rs777119817 |
194 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202081283 CA8786284 |
197 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1406440901 CA401170927 |
199 | M>L | No |
ClinGen gnomAD |
|
|
rs749142929 CA8786283 |
199 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404828342 CA401170902 |
202 | D>N | No |
ClinGen gnomAD |
|
|
CA8786282 rs777792040 |
203 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769232944 CA8786281 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs137873848 CA8786280 |
208 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137873848 CA401170856 |
208 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751273744 CA8786277 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1266462603 CA401170803 |
213 | V>G | No |
ClinGen gnomAD |
|
|
rs764459575 CA401170785 |
215 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM562383 rs764459575 COSM562382 CA8786275 |
215 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA401170738 rs1598589535 |
219 | Q>E | No |
ClinGen Ensembl |
|
|
rs1278758760 CA401170724 |
220 | I>L | No |
ClinGen gnomAD |
|
|
rs753954096 CA8786271 |
223 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401170657 rs1223287943 |
226 | N>S | No |
ClinGen gnomAD |
|
|
rs775817471 CA8786268 |
227 | G>S | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763138134 CA8786267 |
228 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786266 rs763138134 |
228 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401170524 rs1446270425 |
233 | N>H | No |
ClinGen TOPMed |
|
|
CA401170515 rs1195992364 |
234 | T>A | No |
ClinGen gnomAD |
|
|
CA8786243 rs545304271 |
234 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs267605060 CA294162628 |
235 | E>K | No |
ClinGen Ensembl |
|
|
CA401170482 rs1428538658 |
237 | G>S | No |
ClinGen gnomAD |
|
|
CA8786240 rs761706546 |
238 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA401170456 rs1248860453 |
239 | K>R | No |
ClinGen gnomAD |
|
|
rs768104087 CA401170430 |
241 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746540983 CA8786237 |
242 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461291803 CA401170410 |
243 | V>G | No |
ClinGen gnomAD |
|
|
CA8786236 rs200186813 |
243 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8786234 rs140600896 |
245 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140600896 CA8786235 |
245 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257815392 CA401170373 |
247 | V>I | No |
ClinGen TOPMed |
|
|
CA294162565 rs900820190 |
249 | D>N | No |
ClinGen TOPMed |
|
|
rs778439788 CA8786230 |
250 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs375245770 CA8786206 |
251 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375245770 CA401170276 |
251 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401170267 rs1221473680 |
252 | L>F | No |
ClinGen gnomAD |
|
|
rs755044197 CA401170234 |
254 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401170231 rs1318859888 |
255 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8786204 rs751731637 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1232994398 CA401170182 |
259 | G>A | No |
ClinGen TOPMed |
|
|
rs780266397 CA401170161 |
260 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1598587939 CA401170153 |
261 | Y>S | No |
ClinGen Ensembl |
|
|
rs1448505704 CA401170116 |
265 | V>M | No |
ClinGen gnomAD |
|
|
CA294161971 rs200976427 |
267 | I>M | No |
ClinGen gnomAD |
|
|
CA401170096 rs1253199150 |
267 | I>T | No |
ClinGen gnomAD |
|
|
CA401170087 rs1479658882 |
268 | G>A | No |
ClinGen gnomAD |
|
|
CA401170085 rs1479658882 |
268 | G>V | No |
ClinGen gnomAD |
|
|
rs1213585879 CA401170082 |
269 | P>A | No |
ClinGen TOPMed |
|
|
rs756978878 CA8786202 |
274 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8786201 rs753617981 |
275 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1195289 rs551570946 COSM1195288 CA8786200 |
276 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA294161931 rs75444317 |
280 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 283 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM177059 rs759134620 COSM177058 CA8786196 |
285 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA401169893 rs1381031117 |
287 | S>G | No |
ClinGen TOPMed |
|
|
CA401169851 rs1229471030 |
290 | S>I | No |
ClinGen gnomAD |
|
|
CA401169842 rs1157566193 |
291 | K>R | No |
ClinGen TOPMed |
|
|
CA401169826 rs1598587801 |
292 | F>C | No |
ClinGen Ensembl |
|
|
CA401169814 rs1598587791 |
293 | R>L | No |
ClinGen Ensembl |
|
|
rs11539331 CA294161904 |
294 | V>E | No |
ClinGen Ensembl |
|
|
CA401169797 rs1452711536 |
295 | V>A | No |
ClinGen gnomAD |
|
|
CA401169783 rs1407747438 |
297 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991825416 CA294161619 |
300 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA294161614 rs570307572 |
303 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201376977 CA294161612 |
305 | K>N | No |
ClinGen ESP |
|
|
CA401169484 rs1391953480 |
306 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401169447 rs1445638137 |
311 | K>N | No |
ClinGen TOPMed |
|
|
rs755874632 CA8786165 |
311 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA401169438 rs1192909644 |
313 | F>V | No |
ClinGen TOPMed |
|
|
rs781102097 CA8786163 |
317 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA401169409 rs1307846086 |
317 | G>R | No |
ClinGen gnomAD |
|
|
CA8786162 rs754940630 |
318 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368018648 CA401169403 |
318 | T>S | No |
ClinGen gnomAD |
|
|
CA401169388 rs751583769 |
320 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786161 rs751583769 |
320 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1269628 COSM1269629 CA401169385 rs1408857814 |
321 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs765945405 CA8786160 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401169371 rs1160490136 |
323 | P>T | No |
ClinGen gnomAD |
|
|
rs201652216 CA8786159 |
325 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401169350 rs1490802991 |
326 | S>F | No |
ClinGen gnomAD |
|
|
rs1220824039 CA401169335 |
329 | T>A | No |
ClinGen gnomAD |
|
|
CA401169332 rs1447060884 |
329 | T>I | No |
ClinGen gnomAD |
|
|
rs374156280 CA8786156 |
330 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401169296 rs1372052395 |
335 | R>G | No |
ClinGen TOPMed |
|
|
CA8786125 rs746803974 |
336 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1368158357 CA401169276 |
336 | V>L | No |
ClinGen TOPMed |
|
|
CA401169253 rs1462719466 |
338 | R>H | No |
ClinGen TOPMed |
|
|
CA294161408 rs926306435 |
344 | H>R | No |
ClinGen gnomAD |
|
|
CA401169162 rs1394438056 |
345 | A>T | No |
ClinGen TOPMed |
|
|
rs780059889 CA8786124 |
345 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8786122 rs745858375 |
347 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401169113 rs1385269202 |
348 | Q>H | No |
ClinGen gnomAD |
|
|
CA401169109 rs1164939499 |
349 | L>V | No |
ClinGen gnomAD |
|
|
rs778246422 CA8786121 |
350 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA401169077 rs1598586810 |
351 | E>G | No |
ClinGen Ensembl |
|
|
CA294161389 rs866617681 |
352 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8786119 rs753433061 |
352 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481145554 CA401169064 |
353 | C>S | No |
ClinGen gnomAD |
|
|
rs1203563840 CA401169033 |
355 | Y>C | No |
ClinGen gnomAD |
|
|
CA401168947 rs1598586769 |
361 | V>G | No |
ClinGen Ensembl |
|
|
rs759925606 CA8786114 |
362 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972859202 CA294161349 |
366 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8786112 rs374692975 |
366 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA401168874 rs752134380 |
367 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752134380 CA8786111 |
367 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554181598 CA8786110 |
369 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401168813 rs1375193801 |
371 | P>L | No |
ClinGen gnomAD |
|
|
rs1305987596 CA401168805 |
372 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567834477 | 374 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8786109 rs763104453 |
375 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs770134258 CA8786107 |
376 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401168760 rs770134258 |
376 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 376 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8786106 rs762184050 |
377 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294161339 CA8786105 rs534540587 |
378 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534540587 CA8786104 |
378 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401168716 rs1262201057 |
380 | G>D | No |
ClinGen TOPMed |
|
|
rs1430027371 CA401168711 |
381 | S>A | No |
ClinGen TOPMed |
|
|
rs978665846 CA294161338 |
381 | S>F | No |
ClinGen TOPMed |
|
|
CA8786102 rs770423421 |
382 | M>I | No |
ClinGen ExAC |
|
|
rs1414566958 CA401168691 |
382 | M>T | No |
ClinGen gnomAD |
|
|
CA8786103 rs577711435 |
382 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401168649 rs1482968011 |
385 | K>Q | No |
ClinGen gnomAD |
|
|
rs1266468451 CA401168583 |
386 | V>M | No |
ClinGen gnomAD |
|
|
COSM984704 COSM984705 CA8786083 rs770891960 |
388 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8786084 rs770891960 |
388 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8786082 COSM215715 COSM215716 rs199618431 |
388 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 391 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401168490 rs1330465832 |
393 | Q>E | No |
ClinGen gnomAD |
|
|
rs769320836 CA8786080 |
394 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1436646198 CA401168462 |
395 | V>L | No |
ClinGen gnomAD |
|
|
CA8786079 rs747746753 |
396 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780907779 CA8786078 |
398 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA401168427 rs1452727659 |
398 | M>T | No |
ClinGen TOPMed |
|
|
rs1407251628 CA401168409 |
401 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747393750 CA8786076 |
404 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8786074 rs201152699 |
405 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546555056 CA8786075 |
405 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401168373 rs1409414263 |
406 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 408 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149178826 CA8786072 |
408 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142461783 CA8786073 |
408 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757426729 CA8786071 |
410 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786070 rs753942240 |
412 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA401168319 rs1280386996 |
414 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8786069 rs764375159 |
417 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1230582296 CA401168284 |
419 | G>E | No |
ClinGen gnomAD |
|
|
CA294161086 rs948497382 |
419 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs760866715 CA8786068 |
420 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749452583 CA294161085 |
423 | T>S | No |
ClinGen Ensembl |
|
|
rs766131101 CA8786066 |
426 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331854830 CA401168236 |
426 | E>V | No |
ClinGen gnomAD |
|
|
rs762840507 CA401168230 |
427 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762840507 CA8786065 |
427 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401168227 rs1335241169 |
428 | E>K | No |
ClinGen TOPMed |
|
|
CA401168215 rs1168972679 |
429 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401168209 rs1388356480 |
430 | A>V | No |
ClinGen gnomAD |
|
|
rs769232737 CA8786063 |
431 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA401168203 rs1445380769 |
431 | S>R | No |
ClinGen gnomAD |
|
|
rs747659265 CA8786062 |
432 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373306096 CA8786061 |
435 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758865506 CA8786058 |
437 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8786057 rs758865506 |
437 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8786056 rs746319735 |
438 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779568832 CA8786055 |
441 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs753943012 CA8786053 |
443 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs753943012 CA401168130 |
443 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA294161068 rs968084028 |
443 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8786052 rs764132543 |
445 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs766018322 CA294161064 |
445 | M>V | No |
ClinGen Ensembl |
|
|
rs756332600 CA8786051 |
446 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs369070451 CA8786050 |
448 | E>K | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8786049 rs766109585 |
449 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA401168085 rs1411875915 |
450 | A>T | No |
ClinGen TOPMed |
|
|
CA8786046 rs765152145 |
453 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA401168062 rs765152145 |
453 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401168064 rs773063832 |
453 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773063832 CA8786047 |
453 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401168055 rs776182377 |
454 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376974866 CA8786045 |
454 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs34603906 CA8786043 |
455 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760335192 CA8786042 |
456 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA401168043 rs1355785625 |
456 | A>V | No |
ClinGen TOPMed |
|
|
rs775018554 CA8786041 |
459 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1439311424 CA401168024 |
459 | Q>R | No |
ClinGen TOPMed |
|
|
CA8786040 rs772499663 |
462 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA401167995 rs1214404420 |
464 | L>P | No |
ClinGen Ensembl |
|
|
CA8786039 rs746231855 |
464 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401167988 rs762529413 |
466 | K>E | No |
ClinGen Ensembl |
|
|
rs762529413 CA294161001 |
466 | K>Q | No |
ClinGen Ensembl |
|
|
CA401167968 rs1416438820 |
468 | G>D | No |
ClinGen TOPMed |
|
|
CA401167934 rs1350946870 |
473 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294160995 rs915436077 |
474 | H>Y | No |
ClinGen TOPMed |
|
|
rs1567833925 CA401167923 |
475 | S>A | No |
ClinGen Ensembl |
|
|
rs777873761 CA8786035 |
475 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777873761 CA401167921 |
475 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs200340348 CA8786033 |
476 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321675999 CA401167895 |
479 | D>G | No |
ClinGen gnomAD |
|
|
rs1351649575 CA401167899 |
479 | D>N | No |
ClinGen gnomAD |
|
|
CA8786031 rs755256656 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401167874 rs1161733877 |
482 | D>G | No |
ClinGen gnomAD |
|
|
CA401167864 rs1242745851 |
483 | E>D | No |
ClinGen gnomAD |
|
|
CA294160934 rs930277232 |
485 | A>V | No |
ClinGen Ensembl |
|
|
CA401167851 rs1411023927 |
486 | D>N | No |
ClinGen gnomAD |
|
|
rs769763885 CA294160930 |
487 | D>G | No |
ClinGen Ensembl |
|
|
rs761778318 CA8786028 |
488 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751416906 CA8786027 |
488 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401167829 rs1255871632 |
489 | D>G | No |
ClinGen TOPMed |
|
|
CA401167822 COSM1710832 COSM1710833 rs1472639078 |
490 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1598585960 CA401167816 |
491 | T>P | No |
ClinGen Ensembl |
|
|
CA8786024 rs775208852 |
494 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1598585945 CA401167791 |
495 | T>P | No |
ClinGen Ensembl |
|
|
CA401167743 rs1267932649 |
502 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 506 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373042754 CA8786019 |
507 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8786018 rs771456790 |
509 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8786017 rs529447432 |
510 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401167648 rs529447432 |
510 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1598585876 CA401167630 |
511 | S>R | No |
ClinGen Ensembl |
|
|
rs769841561 CA8786015 |
511 | S>T | No |
ClinGen ExAC |
|
|
CA8786014 rs199680423 |
512 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8786012 rs149783036 |
512 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8786013 rs149783036 |
512 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422955827 CA401167584 |
515 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751817694 CA8786011 |
518 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 519 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401167525 rs1270264783 |
520 | I>V | No |
ClinGen gnomAD |
|
|
CA8786010 rs778638385 |
521 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757025377 CA8786009 |
521 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753742875 CA8786008 |
524 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1386209 COSM1386210 rs763935618 CA8786007 |
525 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs866338436 CA294160823 |
525 | R>H | No |
ClinGen gnomAD |
|
|
rs1567833713 CA401167409 |
529 | R>G | No |
ClinGen Ensembl |
|
|
rs1277082644 CA401167391 |
530 | K>R | No |
ClinGen gnomAD |
|
|
CA401167350 rs1397115587 |
533 | K>T | No |
ClinGen gnomAD |
|
|
CA401167320 rs1433080297 |
535 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs560787739 CA8786003 |
535 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8786002 rs759221383 |
536 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171762681 CA401167311 |
537 | D>N | No |
ClinGen TOPMed |
|
|
rs1012667420 CA294160802 |
540 | P>T | No |
ClinGen TOPMed |
|
|
rs774165966 CA8786001 |
542 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598585259 CA401167126 |
544 | V>G | No |
ClinGen Ensembl |
|
|
rs1598585253 CA401167070 |
548 | V>G | No |
ClinGen Ensembl |
|
|
rs1598585245 CA401167058 |
549 | V>G | No |
ClinGen Ensembl |
|
|
CA401167067 rs1292971391 |
549 | V>M | No |
ClinGen gnomAD |
|
|
rs1486693455 CA401167048 |
550 | T>S | No |
ClinGen TOPMed |
|
|
rs564785435 CA8785966 |
551 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401167042 rs564785435 |
551 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598585217 CA401167032 |
553 | T>P | No |
ClinGen Ensembl |
|
|
CA401167011 rs1456005164 |
556 | D>G | No |
ClinGen gnomAD |
|
|
CA8785963 rs750123879 |
556 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785961 rs150786122 |
557 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414684770 CA401165966 |
561 | D>G | No |
ClinGen gnomAD |
|
|
CA8785960 rs575109419 |
563 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8785959 rs764570685 |
564 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759625121 CA8785956 |
567 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8785958 rs141373479 |
567 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8785957 rs141373479 |
567 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294160408 rs555387632 |
568 | I>M | No |
ClinGen 1000Genomes |
|
|
rs774643651 CA8785954 |
568 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA294160404 COSM3937583 rs981253008 COSM3937582 |
569 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA401165846 rs1266044508 |
571 | N>S | No |
ClinGen gnomAD |
|
|
CA8785951 rs781195216 |
572 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384559620 CA401165788 |
576 | V>A | No |
ClinGen gnomAD |
|
|
CA401165795 rs1303388880 |
576 | V>M | No |
ClinGen gnomAD |
|
|
rs768695007 CA8785950 |
581 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs747009607 CA8785949 |
581 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA401165726 rs747009607 |
581 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 590 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252473595 CA401165566 |
593 | K>E | No |
ClinGen gnomAD |
|
|
rs1318576659 CA401165543 |
594 | R>Q | No |
ClinGen TOPMed |
|
|
CA401165483 rs1233345949 |
595 | V>D | No |
ClinGen gnomAD |
|
|
CA401165466 rs1368845055 |
596 | Q>H | No |
ClinGen gnomAD |
|
|
rs1167504969 CA401165395 |
601 | P>L | No |
ClinGen gnomAD |
|
|
rs374117717 CA8785913 |
613 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775214887 CA8785912 |
614 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313528354 CA401165218 |
615 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 615 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745832941 CA8785910 |
618 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752421229 CA294160173 |
618 | M>V | No |
ClinGen TOPMed |
|
|
rs562389342 CA294160172 |
623 | K>R | No |
ClinGen Ensembl |
|
|
rs1282124891 CA401165113 |
626 | P>L | No |
ClinGen gnomAD |
|
|
rs770449417 CA8785908 |
627 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412247502 CA401165091 |
630 | D>N | No |
ClinGen gnomAD |
|
|
rs1221393801 CA401165083 |
631 | V>M | No |
ClinGen TOPMed |
|
|
CA8785892 rs774284073 |
633 | L>P | No |
ClinGen ExAC |
|
|
CA294160035 rs372937922 |
633 | L>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 635 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401165036 rs1440488846 |
636 | E>G | No |
ClinGen gnomAD |
|
|
CA401164953 rs1433045290 |
647 | D>E | No |
ClinGen TOPMed |
|
|
CA8785889 rs772764202 |
652 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs769470235 CA8785888 |
654 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759375922 CA8785887 |
654 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781583542 CA8785886 |
658 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA401164871 rs1192572617 |
660 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8785884 rs747462248 |
661 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229379224 CA401164859 |
662 | I>V | No |
ClinGen TOPMed |
|
|
rs137965500 CA8785882 |
663 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401164849 rs1207659922 |
663 | G>V | No |
ClinGen TOPMed |
|
|
CA8785881 rs750518226 |
664 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778898637 CA8785880 |
665 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8785879 rs757460590 |
666 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1567832767 CA401164824 |
667 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 669 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401164813 rs1452770584 |
669 | A>S | No |
ClinGen TOPMed |
|
|
CA8785878 rs114107891 |
670 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785877 rs114107891 |
670 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1366182193 CA401164800 |
671 | H>R | No |
ClinGen gnomAD |
|
|
rs747386430 CA294159965 |
672 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 672 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294159963 rs899178330 |
673 | E>K | No |
ClinGen Ensembl |
|
|
rs199955445 CA8785875 |
674 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401164751 rs1416654582 |
676 | P>R | No |
ClinGen gnomAD |
|
|
rs1567832506 CA401164745 |
677 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA401164742 rs1295961576 |
678 | V>L | No |
ClinGen gnomAD |
|
|
rs1461099582 CA401164735 |
679 | G>D | No |
ClinGen gnomAD |
|
|
rs962276770 CA294159672 |
682 | A>G | No |
ClinGen TOPMed |
|
|
rs1463319583 CA401164711 |
683 | R>C | No |
ClinGen gnomAD |
|
|
rs774723942 CA8785842 |
683 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA919897557 rs1567832463 |
684 | V>K | No |
ClinGen Ensembl |
|
|
rs749311754 CA8785840 |
686 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749311754 CA401164694 |
686 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345629686 CA401164688 |
687 | S>G | No |
ClinGen gnomAD |
|
|
rs756294792 CA8785838 |
688 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs958898852 CA401164669 |
689 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs566788171 CA8785837 |
689 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401164662 rs1598583877 |
690 | V>G | No |
ClinGen Ensembl |
|
|
CA401164649 rs1598583869 |
692 | V>G | No |
ClinGen Ensembl |
|
|
CA8785836 rs374950260 |
692 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758205503 CA401164632 |
695 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758205503 CA8785835 |
695 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785834 rs750311893 |
695 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401164629 rs1228875088 |
696 | D>N | No |
ClinGen gnomAD |
|
|
rs371531547 CA8785830 |
697 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs547095247 CA401164619 |
697 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547095247 CA8785831 |
697 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8785832 rs757278690 |
697 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1294868184 CA401164606 |
699 | K>R | No |
ClinGen gnomAD |
|
|
CA8785828 rs775295354 |
701 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8785827 rs767924848 |
702 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282458346 CA401163985 |
710 | I>L | No |
ClinGen gnomAD |
|
|
rs769801871 CA8785803 |
714 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1274299859 CA401163872 |
717 | S>* | No |
ClinGen gnomAD |
|
|
CA401163878 rs1329111435 |
717 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229198189 CA401163837 |
720 | D>N | No |
ClinGen gnomAD |
|
|
rs776750694 CA8785801 |
720 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA8785800 rs768739112 |
721 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368378503 CA294157590 |
722 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368378503 CA8785799 |
722 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA294157589 rs1046858473 |
723 | E>A | No |
ClinGen TOPMed |
|
|
rs1246258359 CA401163761 |
725 | S>T | No |
ClinGen TOPMed |
|
|
CA294157581 rs923490349 |
728 | G>R | No |
ClinGen TOPMed |
|
|
CA8785795 rs777847984 |
729 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1252941467 CA401163710 |
729 | A>V | No |
ClinGen TOPMed |
|
|
rs1371069765 CA401163696 |
730 | S>F | No |
ClinGen gnomAD |
|
|
rs756176989 CA8785794 |
731 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175049270 CA401163648 |
734 | W>L | No |
ClinGen TOPMed |
|
|
rs780884414 CA8785792 |
736 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1041016010 CA294157569 |
738 | S>G | No |
ClinGen Ensembl |
|
|
CA294157560 rs961285408 |
740 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 743 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8785788 rs375028778 |
745 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1337030572 CA401163447 |
748 | V>E | No |
ClinGen gnomAD |
|
|
CA401163445 rs1337030572 |
748 | V>G | No |
ClinGen gnomAD |
|
|
CA401163444 rs1250479666 |
749 | E>K | No |
ClinGen gnomAD |
|
|
rs150263578 CA8785786 |
750 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401163391 rs1322338482 |
751 | E>G | No |
ClinGen gnomAD |
|
|
rs952583194 CA294157543 |
751 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA401163374 rs1598582605 |
752 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 753 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296668475 CA401163351 |
754 | K>Q | No |
ClinGen TOPMed |
|
|
CA401163326 rs1372772798 |
755 | I>T | No |
ClinGen TOPMed |
|
|
CA294157517 rs957375549 |
757 | E>G | No |
ClinGen gnomAD |
|
|
CA294157512 COSM1710831 rs141106159 COSM1710830 |
758 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA8785784 rs776662909 |
758 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA294157493 rs775783105 |
759 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785781 rs775783105 |
759 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785782 rs370517188 |
759 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598582531 CA401163270 |
760 | I>T | No |
ClinGen Ensembl |
|
|
rs1419800021 CA401163243 |
762 | P>H | No |
ClinGen gnomAD |
|
|
CA401163248 rs1326547315 |
762 | P>S | No |
ClinGen gnomAD |
|
|
CA401163237 rs879111348 |
763 | L>P | No |
ClinGen Ensembl |
|
|
CA294157476 rs879111348 |
763 | L>Q | No |
ClinGen Ensembl |
|
|
rs1474848424 CA401163189 |
766 | P>L | No |
ClinGen gnomAD |
|
|
CA8785778 rs777756089 |
767 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769820292 CA8785777 |
768 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs753611258 CA8785776 |
768 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8785774 rs147713864 |
769 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401163148 rs1231931805 |
770 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401163146 rs1231931805 |
770 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401163154 rs1275443991 |
770 | E>Q | No |
ClinGen gnomAD |
|
|
CA401163137 rs1443943186 |
771 | D>N | No |
ClinGen TOPMed |
|
|
rs1279044015 CA401163092 |
774 | V>G | No |
ClinGen Ensembl |
|
|
CA8785772 rs779756024 |
775 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA401163080 rs1189065398 |
776 | I>T | No |
ClinGen TOPMed |
|
|
CA401163070 rs1598582402 |
777 | S>R | No |
ClinGen Ensembl |
|
|
rs758047273 CA8785771 |
778 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA401163058 rs1328391189 |
779 | E>G | No |
ClinGen gnomAD |
|
|
rs1441922904 CA401163049 |
780 | A>V | No |
ClinGen gnomAD |
|
|
rs1598582384 CA401163044 |
781 | A>G | No |
ClinGen Ensembl |
|
|
CA8785768 rs762269152 |
783 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1460790807 CA401163034 |
783 | A>T | No |
ClinGen gnomAD |
|
|
rs377615515 CA8785765 |
785 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401163006 rs1362739010 |
788 | A>T | No |
ClinGen gnomAD |
|
|
CA401162995 rs1598582345 |
789 | V>G | No |
ClinGen Ensembl |
|
|
rs1470403450 CA401163000 |
789 | V>M | No |
ClinGen TOPMed |
|
|
CA401162982 rs1469542999 |
791 | M>I | No |
ClinGen gnomAD |
|
|
CA401162987 rs1199043413 |
791 | M>V | No |
ClinGen gnomAD |
|
|
CA294157402 rs1053398126 |
792 | A>D | No |
ClinGen TOPMed |
|
|
CA401162968 rs1380603107 |
794 | P>S | No |
ClinGen TOPMed |
|
|
CA8785763 rs554876093 |
795 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8785762 rs759874059 |
797 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 797 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773097201 CA8785761 |
798 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8785759 rs748038435 |
802 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769730793 CA8785760 |
802 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8785757 rs768547100 |
804 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1324188446 CA401162896 |
805 | D>N | No |
ClinGen gnomAD |
|
|
CA294157326 rs370506474 |
806 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA8785754 rs566055693 |
811 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1260706896 CA401162847 |
812 | R>Q | No |
ClinGen TOPMed |
|
|
rs749448510 CA294157320 |
812 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8785752 rs779200991 |
814 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8785751 rs551723203 |
819 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 819 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 822 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401162720 rs1445761793 |
830 | E>A | No |
ClinGen gnomAD |
|
|
rs1243756667 CA401162723 |
830 | E>K | No |
ClinGen TOPMed |
|
|
rs756627488 CA8785748 |
834 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401162689 rs1350211457 |
835 | G>D | No |
ClinGen gnomAD |
|
|
CA294157214 rs767520658 |
836 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767520658 CA8785746 |
836 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785744 rs774724648 |
839 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8785742 rs761699483 |
840 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8785741 rs776351322 |
841 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768620113 CA8785740 |
842 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA401162643 rs1373116448 |
843 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA401162640 rs1172584875 |
844 | P>A | No |
ClinGen gnomAD |
|
|
CA8785739 rs746960916 |
846 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775026016 CA8785738 |
847 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778395640 CA294157173 |
848 | T>I | No |
ClinGen gnomAD |
|
|
rs1269989902 CA401162610 |
849 | R>Q | No |
ClinGen TOPMed |
|
|
rs141637476 CA8785737 |
849 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401162592 rs1263079684 |
851 | K>N | No |
ClinGen gnomAD |
|
|
rs756958890 CA8785734 |
861 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1598582076 CA401162481 |
867 | T>P | No |
ClinGen Ensembl |
|
|
CA8785731 rs143686201 |
870 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401162416 rs935979876 |
876 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs755110422 CA8785728 |
876 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751759639 CA8785727 |
880 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763319538 COSM1231547 COSM1231548 CA8785725 |
884 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8785721 rs775305144 |
885 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs147349982 CA8785723 |
885 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785722 rs147349982 CA401162358 |
885 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785719 rs759032712 |
887 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770539583 CA8785717 |
887 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785718 rs770539583 |
887 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778146894 CA8785715 |
888 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958539389 CA294157003 |
888 | K>R | No |
ClinGen gnomAD |
|
|
rs1407126473 CA401162332 |
889 | E>D | No |
ClinGen TOPMed |
|
|
CA8785714 rs770064001 |
890 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448488793 CA401162329 |
890 | D>N | No |
ClinGen gnomAD |
|
|
CA294156978 rs149740559 |
892 | P>R | No |
ClinGen ESP |
|
|
COSM1231551 COSM1231552 CA401162313 rs1317029401 |
892 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8785710 rs199615423 |
893 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401162302 rs1332583338 |
894 | G>R | No |
ClinGen gnomAD |
|
|
rs780325970 CA8785709 |
895 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294156942 rs951016299 |
897 | P>S | No |
ClinGen gnomAD |
|
|
CA8785708 rs758606691 |
900 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA401162239 rs1296055264 |
903 | P>R | No |
ClinGen gnomAD |
|
|
CA8785705 rs557120914 |
905 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA401162217 rs1267850920 |
906 | T>I | No |
ClinGen TOPMed |
|
|
rs773810377 CA401162161 |
915 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773810377 CA8785701 |
915 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401162136 rs1427068868 |
919 | V>I | No |
ClinGen TOPMed |
|
|
CA401162125 rs1457475268 |
920 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1215303344 CA401162106 |
923 | S>C | No |
ClinGen gnomAD |
|
|
rs1567831057 CA401162091 |
924 | A>T | No |
ClinGen Ensembl |
|
|
rs1272570824 CA401162059 |
926 | G>S | No |
ClinGen gnomAD |
|
|
rs1598581778 CA401162024 |
928 | V>G | No |
ClinGen Ensembl |
|
|
rs769258845 COSM984681 COSM984680 CA8785694 |
931 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8785692 rs780234026 |
934 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs143060633 CA8785638 |
937 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA294156346 rs367556687 |
940 | S>P | No |
ClinGen ESP |
|
|
rs763827091 CA8785636 COSM195599 COSM195600 |
940 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA401161798 rs1486141207 |
941 | F>S | No |
ClinGen gnomAD |
|
|
rs1598581350 CA401161771 |
943 | K>R | No |
ClinGen Ensembl |
|
|
CA401161738 rs1598581336 |
946 | F>S | No |
ClinGen Ensembl |
|
|
CA8785635 rs149193728 |
947 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1162731585 CA401161653 |
953 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1430939090 CA401161579 |
958 | V>A | No |
ClinGen TOPMed |
|
|
CA8785634 rs752963483 |
958 | V>M | No |
ClinGen ExAC |
|
|
rs767945816 CA8785633 |
959 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401161575 rs1183457894 |
959 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8785632 rs759902938 |
960 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771491856 CA8785630 |
961 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs567270979 CA8785629 |
963 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 973 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401161421 rs1455288441 |
974 | M>V | No |
ClinGen TOPMed |
|
|
CA401161402 rs1241348338 |
975 | V>D | No |
ClinGen gnomAD |
|
|
rs1374949354 CA401161389 |
977 | T>A | No |
ClinGen gnomAD |
|
|
rs1227844265 CA401161346 |
980 | D>N | No |
ClinGen Ensembl |
|
|
CA401160084 rs1417270843 |
990 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 992 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380090963 CA401160013 |
1001 | L>F | No |
ClinGen Ensembl |
|
|
CA401159973 rs1422696382 |
1006 | I>M | No |
ClinGen gnomAD |
|
|
rs750231248 CA294153027 |
1006 | I>V | No |
ClinGen Ensembl |
|
|
rs1178211824 CA401159956 |
1009 | P>S | No |
ClinGen gnomAD |
|
|
CA401159949 rs1175043623 |
1010 | N>S | No |
ClinGen TOPMed |
|
|
rs577027726 CA8785608 |
1011 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401159943 rs1195993293 |
1011 | I>V | No |
ClinGen gnomAD |
|
|
CA401159935 rs1598577260 |
1012 | Y>S | No |
ClinGen Ensembl |
|
|
CA8785606 rs769885486 |
1015 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294152985 rs1020282050 |
1016 | P>S | No |
ClinGen TOPMed |
|
|
CA8785604 rs776920459 |
1018 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401159902 rs776920459 |
1018 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs765371406 | 1018 | H>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8785602 rs768831252 |
1019 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401159827 rs1357040692 |
1028 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8785596 rs755684986 |
1036 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8785592 rs751919957 |
1045 | G>D | No |
ClinGen ExAC |
|
|
CA8785591 rs766762779 |
1048 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA401159691 rs1274878112 |
1048 | I>T | No |
ClinGen gnomAD |
|
|
CA401159655 rs1400070307 |
1052 | T>K | No |
ClinGen gnomAD |
|
|
rs758767139 CA8785573 COSM23459 |
1054 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1459912787 CA401159624 |
1056 | T>I | No |
ClinGen gnomAD |
|
|
rs1049309220 CA294152773 |
1057 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401159599 rs1164169281 |
1060 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1063 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1070 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1744681 rs759876043 COSM1744682 CA8785544 |
1079 | Y>C | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1342996853 CA401159437 |
1082 | A>S | No |
ClinGen gnomAD |
|
|
CA401159433 rs1245956917 |
1083 | G>S | No |
ClinGen gnomAD |
|
|
rs368318418 CA8785541 |
1085 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401159407 rs1376263395 |
1086 | S>I | No |
ClinGen gnomAD |
|
|
CA401159405 rs1412756635 |
1086 | S>R | No |
ClinGen TOPMed |
|
|
rs776438824 CA8785540 |
1088 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1170994350 CA401159372 |
1092 | E>Q | No |
ClinGen gnomAD |
|
|
CA8785537 rs771684298 |
1100 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs745552878 CA8785535 |
1104 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401159276 rs1482443698 |
1105 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8785534 rs779276300 |
1107 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771202026 CA8785533 |
1108 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8785532 rs749725743 |
1109 | V>E | No |
ClinGen ExAC |
|
|
rs1218033519 CA401159234 |
1112 | M>V | No |
ClinGen gnomAD |
|
|
rs1450777466 CA401159222 |
1113 | T>I | No |
ClinGen TOPMed |
|
|
CA8785531 rs138587388 |
1113 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147116338 CA8785530 |
1115 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401159206 rs1355238508 |
1116 | V>A | No |
ClinGen gnomAD |
|
|
rs1394520864 CA401159208 |
1116 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401159200 rs141700513 |
1117 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785527 rs147935488 |
1117 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785528 rs141700513 |
1117 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785525 rs765017989 |
1118 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8785526 rs751745147 |
1118 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs1169903245 CA401159185 |
1119 | P>A | Variant assessed as Somatic; 9.321e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1184851934 CA401159172 |
1120 | P>L | No |
ClinGen gnomAD |
|
|
rs1369703699 CA401159177 |
1120 | P>S | No |
ClinGen gnomAD |
|
|
rs200328484 CA8785522 |
1121 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294152345 rs935403784 |
1122 | V>G | No |
ClinGen Ensembl |
|
|
CA401159047 rs1190192855 |
1126 | E>D | No |
ClinGen TOPMed |
|
|
rs760649703 CA8785520 |
1128 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8785519 rs774943703 |
1130 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8785516 rs367836180 |
1137 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759120535 CA8785517 |
1137 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401158844 rs1310330551 |
1139 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1139 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202061651 CA8785514 |
1140 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401158825 rs1340328271 |
1140 | N>S | No |
ClinGen TOPMed |
|
|
rs766312385 CA8785513 |
1141 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770383488 CA8785512 |
1142 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA8785510 rs781364579 |
1143 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755114691 CA8785509 |
1144 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401158736 rs1457013462 |
1145 | W>* | No |
ClinGen gnomAD |
|
|
rs780127289 CA8785507 |
1147 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs758698833 CA8785506 |
1148 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs34070229 CA8785504 |
1150 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785503 rs756000381 |
1150 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401158593 rs1598576299 |
1155 | A>T | No |
ClinGen Ensembl |
|
|
rs1198189480 CA401158589 |
1155 | A>V | No |
ClinGen TOPMed |
|
|
rs767506881 CA8785501 |
1156 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs773957079 CA8785499 |
1160 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA294152155 rs985357194 |
1160 | N>S | No |
ClinGen TOPMed |
|
|
rs543549596 CA294152128 |
1161 | G>E | No |
ClinGen gnomAD |
|
|
rs762697684 CA8785497 |
1161 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142843663 CA401158513 CA8785496 |
1162 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs976521606 CA294152126 |
1166 | S>R | No |
ClinGen TOPMed |
|
|
rs1360606672 CA401158447 |
1167 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs139968373 CA8785495 COSM984674 COSM984675 |
1168 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1379375409 CA401158407 |
1170 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1379375409 CA401158405 |
1170 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1158324668 CA401158390 |
1171 | P>S | No |
ClinGen gnomAD |
|
|
CA401158368 rs1478591515 |
1173 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401158366 rs1478591515 |
1173 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777275481 CA8785493 |
1174 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977334760 CA294152106 |
1175 | A>T | No |
ClinGen Ensembl |
|
|
rs368720072 CA8785491 |
1176 | E>K | Variant assessed as Somatic; 4.713e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780226906 CA8785490 |
1177 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs758513467 CA8785489 |
1179 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8785488 rs746126113 |
1179 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785487 rs777488823 |
1180 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs777488823 CA401158319 |
1180 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8785485 rs371045437 |
1181 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs991126997 CA294152075 |
1181 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1210492043 CA401158302 |
1183 | Q>R | No |
ClinGen TOPMed |
|
|
CA8785484 rs767416771 |
1185 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1266114815 CA401158286 |
1185 | P>L | No |
ClinGen TOPMed |
|
|
rs1299490956 CA401158282 |
1186 | E>A | No |
ClinGen gnomAD |
|
|
rs1359477953 CA401158270 |
1187 | D>E | No |
ClinGen gnomAD |
|
|
CA401158276 rs1464298878 |
1187 | D>N | No |
ClinGen TOPMed |
|
|
rs750993705 CA8785482 |
1189 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs958639120 CA294152059 |
1190 | P>R | No |
ClinGen Ensembl |
|
|
CA401158250 rs1415363025 |
1191 | A>D | No |
ClinGen gnomAD |
|
|
COSM3388156 COSM3388157 CA401158248 rs1415363025 |
1191 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA401158235 rs377453162 |
1194 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs377453162 CA294152057 |
1194 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs1196937433 CA401158226 |
1195 | A>S | No |
ClinGen TOPMed |
|
|
rs1196937433 CA401158228 |
1195 | A>T | No |
ClinGen TOPMed |
|
|
rs1001802365 CA294152052 |
1197 | Q>H | No |
ClinGen TOPMed |
|
|
rs1377104639 CA401158212 |
1197 | Q>R | No |
ClinGen TOPMed |
|
|
CA401158177 rs1162025563 |
1202 | E>D | No |
ClinGen TOPMed |
|
|
rs1195905328 CA401158173 |
1203 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1487361818 CA401158172 |
1203 | G>D | No |
ClinGen gnomAD |
|
|
rs1211088958 CA401158167 |
1204 | G>S | No |
ClinGen gnomAD |
|
|
CA401158161 rs1443867263 |
1205 | A>S | No |
ClinGen gnomAD |
|
|
CA8785479 rs201796669 |
1206 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401158149 rs3803739 |
1207 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762255665 CA8785477 |
1207 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA401158150 rs3803739 |
1207 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785478 VAR_031184 rs3803739 |
1207 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1208 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280076440 CA401158144 |
1208 | L>P | No |
ClinGen gnomAD |
|
|
rs777185529 CA8785476 |
1211 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785474 rs761279677 |
1215 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1357128254 CA401158089 |
1216 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401158081 rs1332605057 |
1217 | D>E | No |
ClinGen gnomAD |
|
|
CA401158067 rs1469653189 |
1219 | T>I | No |
ClinGen gnomAD |
|
|
rs200206989 CA294151990 |
1220 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs139277198 CA8785472 |
1223 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8785471 rs745998318 |
1223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8785469 rs771187543 |
1224 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771187543 CA8785470 |
1224 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA401158041 rs1233738132 |
1224 | P>S | No |
ClinGen TOPMed |
|
|
rs1567827758 CA401158035 |
1225 | D>G | No |
ClinGen Ensembl |
|
|
CA8785467 rs780995965 |
1226 | A>T | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754822739 CA8785466 |
1226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779363008 CA8785464 |
1227 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785462 rs750013336 |
1228 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785461 rs764961456 |
1229 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229603807 CA401157974 |
1235 | K>R | No |
ClinGen gnomAD |
|
|
CA8785460 rs534777947 |
1237 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401157961 rs1376489657 COSM984665 COSM984666 |
1237 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs754218354 CA8785459 |
1242 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764546792 CA8785458 |
1246 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA401157880 rs1166010794 |
1248 | K>N | No |
ClinGen TOPMed |
|
|
rs200035390 CA8785456 |
1251 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8785455 rs772509610 |
1252 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1407203738 CA401157858 |
1252 | P>T | No |
ClinGen gnomAD |
|
|
rs774451530 CA8785453 |
1253 | D>Y | No |
ClinGen ExAC |
|
|
CA401157841 rs200806608 |
1254 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771101417 CA8785452 |
1254 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8785449 rs768501495 |
1255 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780905935 CA8785450 |
1255 | G>R | No |
ClinGen ExAC |
|
|
CA401157820 rs1598575776 COSM238610 COSM238609 |
1258 | L>F | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8785446 rs780029767 |
1258 | L>P | No |
ClinGen ExAC |
|
|
CA294151870 rs922554865 |
1259 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1370720361 CA401157803 |
1261 | L>V | No |
ClinGen TOPMed |
|
|
CA8785444 rs371315298 |
1266 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs961526646 CA294151859 |
1268 | S>T | No |
ClinGen TOPMed |
|
|
rs749923110 CA8785443 |
1269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs908357978 CA294151857 |
1270 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8785442 rs778601048 |
1270 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1415294072 CA401157740 |
1271 | G>S | No |
ClinGen TOPMed |
|
|
rs1251924724 CA401157722 |
1274 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1274 | T>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM437437 COSM437438 CA8785441 rs756925063 |
1274 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1311906303 CA401157709 |
1276 | F>L | No |
ClinGen gnomAD |
|
|
rs371550905 CA8785439 |
1277 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401157701 COSM984662 COSM984663 rs1481881197 |
1277 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8785438 rs376734404 |
1278 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8785434 rs774365638 |
1284 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420524350 CA401157657 |
1285 | M>V | No |
ClinGen gnomAD |
|
|
CA8785432 rs763093268 |
1286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763093268 CA8785433 |
1286 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401157635 rs1598575657 |
1288 | C>G | No |
ClinGen Ensembl |
|
|
CA8785429 rs746800237 |
1288 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8785428 rs775190265 |
1289 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772007963 CA8785427 |
1291 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA401157615 rs1487185575 |
1291 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8785426 rs745825932 |
1292 | K>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9C0C9
1 regional properties for Q9C0C9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ubiquitin-conjugating enzyme E2 | 953 - 1113 | IPR000608 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.24 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cysteine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of a cysteine-type endopeptidase, any enzyme that hydrolyzes peptide bonds in polypeptides by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| ubiquitin conjugating enzyme activity | Isoenergetic transfer of ubiquitin from one protein to another via the reaction X-ubiquitin + Y -> Y-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of BMP signaling pathway | Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity. |
| protein K63-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair. |
| protein monoubiquitination | Addition of a single ubiquitin group to a protein. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6ZPJ3 | Ube2o | (E3-independent) E2 ubiquitin-conjugating enzyme UBE2O | Mus musculus (Mouse) | PR |
| Q11076 | ubc-17 | Probable ubiquitin-conjugating enzyme protein 17 | Caenorhabditis elegans | PR |
| F4HPP7 | UBC39 | Putative ubiquitin-conjugating enzyme E2 39 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GY87 | UBC26 | Probable ubiquitin-conjugating enzyme E2 26 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUQ5 | UBC25 | Probable ubiquitin-conjugating enzyme E2 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADPAAPTPA | APAPAQAPAP | APEAVPAPAA | APVPAPAPAS | DSASGPSSDS | GPEAGSQRLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FSHDLVSGRY | RGSVHFGLVR | LIHGEDSDSE | GEEEGRGSSG | CSEAGGAGHE | EGRASPLRRG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YVRVQWYPEG | VKQHVKETKL | KLEDRSVVPR | DVVRHMRSTD | SQCGTVIDVN | IDCAVKLIGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NCIIYPVNSK | DLQHIWPFMY | GDYIAYDCWL | GKVYDLKNQI | ILKLSNGARC | SMNTEDGAKL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YDVCPHVSDS | GLFFDDSYGF | YPGQVLIGPA | KIFSSVQWLS | GVKPVLSTKS | KFRVVVEEVQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VVELKVTWIT | KSFCPGGTDS | VSPPPSVITQ | ENLGRVKRLG | CFDHAQRQLG | ERCLYVFPAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VEPAKIAWEC | PEKNCAQGEG | SMAKKVKRLL | KKQVVRIMSC | SPDTQCSRDH | SMEDPDKKGE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SKTKSEAESA | SPEETPDGSA | SPVEMQDEGA | EEPHEAGEQL | PPFLLKEGRD | DRLHSAEQDA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DDEAADDTDD | TSSVTSSASS | TTSSQSGSGT | SRKKSIPLSI | KNLKRKHKRK | KNKITRDFKP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GDRVAVEVVT | TMTSADVMWQ | DGSVECNIRS | NDLFPVHHLD | NNEFCPGDFV | VDKRVQSCPD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PAVYGVVQSG | DHIGRTCMVK | WFKLRPSGDD | VELIGEEEDV | SVYDIADHPD | FRFRTTDIVI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RIGNTEDGAP | HKEDEPSVGQ | VARVDVSSKV | EVVWADNSKT | IILPQHLYNI | ESEIEESDYD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SVEGSTSGAS | SDEWEDDSDS | WETDNGLVED | EHPKIEEPPI | PPLEQPVAPE | DKGVVISEEA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ATAAVQGAVA | MAAPMAGLME | KAGKDGPPKS | FRELKEAIKI | LESLKNMTVE | QLLTGSPTSP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TVEPEKPTRE | KKFLDDIKKL | QENLKKTLDN | VAIVEEEKME | AVPDVERKED | KPEGQSPVKA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EWPSETPVLC | QQCGGKPGVT | FTSAKGEVFS | VLEFAPSNHS | FKKIEFQPPE | AKKFFSTVRK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EMALLATSLP | EGIMVKTFED | RMDLFSALIK | GPTRTPYEDG | LYLFDIQLPN | IYPAVPPHFC |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| YLSQCSGRLN | PNLYDNGKVC | VSLLGTWIGK | GTERWTSKSS | LLQVLISIQG | LILVNEPYYN |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EAGFDSDRGL | QEGYENSRCY | NEMALIRVVQ | SMTQLVRRPP | EVFEQEIRQH | FSTGGWRLVN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RIESWLETHA | LLEKAQALPN | GVPKASSSPE | PPAVAELSDS | GQQEPEDGGP | APGEASQGSD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| SEGGAQGLAS | ASRDHTDQTS | ETAPDASVPP | SVKPKKRRKS | YRSFLPEKSG | YPDIGFPLFP |
| 1270 | 1280 | 1290 | |||
| LSKGFIKSIR | GVLTQFRAAL | LEAGMPECTE | DK |