P14625
Gene name |
HSP90B1 |
Protein name |
Endoplasmin |
Names |
94 kDa glucose-regulated protein, GRP-94, Heat shock protein 90 kDa beta member 1, Tumor rejection antigen 1, gp96 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7184 |
EC number |
|
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 P14625
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4NH9 | X-ray | 277 A | A | 69-337 | PDB |
| 7ULL | X-ray | 231 A | A/B | 69-337 | PDB |
| AF-P14625-F1 | Predicted | AlphaFoldDB |
504 variants for P14625
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200731731 CA6753280 |
2 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs367697851 CA6753282 |
2 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6753284 rs149528402 |
6 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746813568 CA6753285 |
8 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs560306771 CA386316198 |
9 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560306771 CA6753286 |
9 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866639231 CA242548158 |
10 | C>* | No |
ClinGen Ensembl |
|
|
rs1201598114 CA386316227 |
10 | C>S | No |
ClinGen TOPMed |
|
|
CA386316273 rs761866435 |
12 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753288 rs761866435 |
12 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414682155 CA386316520 |
19 | V>L | No |
ClinGen gnomAD |
|
|
rs747864450 CA6753305 |
21 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753306 rs769897961 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773231799 CA6753307 |
22 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775421580 CA6753310 |
23 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs759717800 CA6753308 |
23 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759717800 CA6753309 |
23 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761026206 CA6753311 |
25 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753312 rs764191996 |
27 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6753313 rs777102409 |
28 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320691429 CA386316670 |
31 | V>I | No |
ClinGen gnomAD |
|
|
rs1593486635 CA386316694 |
34 | D>G | No |
ClinGen Ensembl |
|
|
CA6753316 rs201068970 |
34 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA242548506 rs201068970 |
34 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 36 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262949989 CA386316712 |
37 | K>R | No |
ClinGen gnomAD |
|
|
CA6753317 rs757919459 |
38 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs765969582 CA6753318 |
39 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1593486657 CA386316734 |
40 | E>G | No |
ClinGen Ensembl |
|
|
CA386316750 rs1593486671 |
41 | G>E | No |
ClinGen Ensembl |
|
|
rs1238298711 CA386316822 |
46 | D>V | No |
ClinGen gnomAD |
|
|
CA386316835 rs1475171241 |
47 | E>Q | No |
ClinGen gnomAD |
|
|
rs1425862457 CA386316854 |
48 | V>A | No |
ClinGen gnomAD |
|
|
CA386316846 rs148706377 |
48 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6753319 CA6753320 rs148706377 |
48 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386316869 rs1171262903 |
49 | V>G | No |
ClinGen gnomAD |
|
|
rs780682319 CA6753321 |
49 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1412568996 CA386316875 |
50 | Q>K | No |
ClinGen gnomAD |
|
|
rs1387949086 CA386317936 |
52 | E>K | No |
ClinGen gnomAD |
|
|
rs576057501 CA6753355 |
59 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386318089 rs1482744806 |
60 | G>E | No |
ClinGen TOPMed |
|
|
CA6753358 rs377222712 |
63 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277061078 CA386318132 |
63 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386318154 rs1245513133 |
65 | Q>H | No |
ClinGen gnomAD |
|
|
rs1273085634 CA386318169 |
66 | I>M | No |
ClinGen TOPMed |
|
|
CA386318174 rs1263799075 |
67 | R>K | No |
ClinGen gnomAD |
|
|
rs763817003 CA6753359 |
69 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs762196975 | 71 | E>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6753363 rs372981677 |
73 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6753362 rs372981677 |
73 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865844557 CA386318315 |
77 | A>D | No |
ClinGen gnomAD |
|
|
CA386318316 rs865844557 |
77 | A>G | No |
ClinGen gnomAD |
|
|
CA242548678 rs865844557 |
77 | A>V | No |
ClinGen gnomAD |
|
|
rs781314286 CA6753366 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201119782 CA242548683 |
83 | N>H | No |
ClinGen 1000Genomes |
|
| TCGA novel | 84 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571691885 CA6753367 |
84 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6753368 rs770047423 |
85 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753369 rs777918443 |
88 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771132893 CA6753371 |
89 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6753372 rs774934129 |
90 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6753373 rs760017425 |
91 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386318640 rs1310873260 |
93 | L>F | No |
ClinGen gnomAD |
|
|
CA6753375 rs775190500 |
94 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253969163 CA386318945 |
101 | L>P | No |
ClinGen gnomAD |
|
|
CA6753393 rs776100889 |
104 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362809151 CA386319051 |
105 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746522202 CA6753394 |
105 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768227408 CA6753395 |
109 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA242548827 rs1022987363 |
112 | L>S | No |
ClinGen Ensembl |
|
|
CA386319175 rs1418208869 |
113 | D>G | No |
ClinGen gnomAD |
|
|
CA6753396 rs776271094 |
114 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761441712 CA6753397 |
115 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs368880453 CA242548839 |
126 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA6753400 rs772925950 |
128 | G>R | No |
ClinGen ExAC |
|
|
CA6753402 rs766330879 |
130 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs751430839 CA6753403 |
131 | E>K | No |
ClinGen ExAC |
|
|
rs1158190787 CA386319452 |
134 | V>I | No |
ClinGen gnomAD |
|
|
rs747580924 CA6753414 |
138 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769283715 CA6753415 |
139 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386319714 rs1421696359 |
142 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA242549073 rs202077306 |
147 | V>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 154 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6753417 rs747669144 |
160 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6753418 rs769352271 |
165 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6753420 rs762737984 |
166 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1308186605 CA386320188 |
166 | I>V | No |
ClinGen gnomAD |
|
|
CA386320290 rs774118680 |
172 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320570659 CA386320296 |
173 | E>Q | No |
ClinGen gnomAD |
|
|
CA386320351 rs1218681745 |
176 | N>K | No |
ClinGen gnomAD |
|
|
rs1285595205 CA386320347 |
176 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs544086568 CA242549077 |
178 | M>I | No |
ClinGen 1000Genomes |
|
|
CA386320372 rs1267789106 |
178 | M>V | No |
ClinGen gnomAD |
|
|
rs1489055240 CA386320397 |
179 | T>I | No |
ClinGen gnomAD |
|
|
CA386320398 rs1490573630 |
180 | E>K | No |
ClinGen gnomAD |
|
|
rs939432213 CA242549079 |
181 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA242549080 rs988217942 |
182 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1441852694 CA386320450 |
183 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386320508 rs1179464633 |
187 | S>T | No |
ClinGen gnomAD |
|
|
rs913069286 CA242549085 |
192 | I>V | No |
ClinGen TOPMed |
|
|
rs201423886 CA242549088 |
199 | F>L | No |
ClinGen 1000Genomes |
|
|
COSM1358304 CA6753429 rs368251601 |
202 | A>T | Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 204 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200565749 CA242549094 |
204 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1309564146 CA386320846 |
205 | V>I | No |
ClinGen gnomAD |
|
|
CA386320875 rs1377941211 |
207 | D>N | No |
ClinGen gnomAD |
|
|
CA386320902 rs1177184303 |
208 | K>E | No |
ClinGen TOPMed |
|
|
rs1018491944 CA242549096 |
209 | V>L | No |
ClinGen Ensembl |
|
|
rs1226121528 CA386320955 |
210 | I>N | No |
ClinGen gnomAD |
|
|
CA6753430 rs780636706 |
211 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386321008 rs1322917989 |
215 | H>Y | No |
ClinGen gnomAD |
|
|
CA6753431 rs371098260 |
217 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6753433 rs781687324 |
218 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753436 rs777303569 |
221 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242549118 rs1027315286 |
221 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 223 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543216677 CA242549123 |
226 | D>A | No |
ClinGen 1000Genomes |
|
|
rs567564451 CA6753437 |
228 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753438 rs770564119 |
229 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6753439 rs770564119 |
229 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA242549140 rs950510474 |
230 | F>Y | No |
ClinGen Ensembl |
|
|
rs1348464856 CA386321263 |
232 | V>I | No |
ClinGen TOPMed |
|
|
CA242549146 rs199621152 |
233 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6753441 rs771936228 |
234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775431470 CA6753442 |
236 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386321303 rs1358232704 |
238 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386321321 rs372511163 |
241 | L>V | No |
ClinGen gnomAD |
|
|
CA6753445 rs750530495 |
243 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386321332 rs1355509772 |
243 | R>W | No |
ClinGen gnomAD |
|
|
rs971274341 CA242549163 |
245 | T>M | No |
ClinGen gnomAD |
|
|
CA386321351 rs1278344637 |
246 | T>K | No |
ClinGen gnomAD |
|
|
CA6753448 rs751992055 |
248 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386321896 rs1193775773 |
250 | V>I | No |
ClinGen gnomAD |
|
|
rs751759985 CA6753465 |
252 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329706753 CA386321980 |
254 | E>A | No |
ClinGen TOPMed |
|
|
CA6753466 rs759828460 |
254 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386321999 rs1566166115 |
255 | A>S | No |
ClinGen Ensembl |
|
|
CA6753467 rs767982403 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs201596968 CA6753468 |
256 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386322030 rs1357381212 |
257 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 257 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361861386 CA386322078 |
258 | Y>C | No |
ClinGen gnomAD |
|
|
CA6753470 rs764484359 |
259 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA386322153 rs1323504068 |
262 | D>G | No |
ClinGen gnomAD |
|
|
rs946752566 CA386322170 |
263 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs946752566 CA242550046 |
263 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs145871780 CA6753471 |
264 | I>M | No |
ClinGen ESP ExAC TOPMed |
|
|
rs935214769 CA242550050 |
264 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6753472 rs375719261 |
268 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778550399 CA6753473 |
270 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA386322353 rs1311612957 |
273 | Q>L | No |
ClinGen gnomAD |
|
|
rs747605736 COSM691526 CA242550089 |
274 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs779943844 CA242550095 |
275 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753476 rs779943844 |
275 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753477 rs746760626 |
280 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753479 rs776666589 |
281 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6753480 rs749380659 |
282 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA242550354 rs967955765 |
286 | T>I | No |
ClinGen TOPMed |
|
|
rs1186299039 CA386322798 |
288 | T>A | No |
ClinGen gnomAD |
|
|
rs1366197850 CA386322843 |
290 | E>A | No |
ClinGen gnomAD |
|
|
CA386322875 rs956521013 |
291 | E>D | No |
ClinGen TOPMed |
|
|
rs1474084119 CA386322886 |
292 | P>H | No |
ClinGen gnomAD |
|
|
CA386322910 rs1464422980 |
293 | M>I | No |
ClinGen gnomAD |
|
|
rs144242572 CA6753493 |
293 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386322950 rs754659333 |
296 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754659333 CA6753496 |
296 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781283473 CA6753497 |
297 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275208080 CA386322970 |
298 | A>T | No |
ClinGen TOPMed |
|
|
rs1235232144 CA386322991 |
300 | K>E | No |
ClinGen TOPMed |
|
|
rs368915159 CA6753498 |
300 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386322997 rs1293862440 |
301 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386323020 rs769849088 |
302 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA386323024 rs922226216 |
302 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6753500 rs769849088 |
302 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA242550375 rs922226216 |
302 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6753502 rs745913051 |
303 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361931233 CA386323056 |
305 | E>K | No |
ClinGen TOPMed |
|
|
rs1445926074 CA386323085 |
307 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6753504 rs200904772 |
313 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6753505 rs200904772 |
313 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs540321497 CA242550390 |
315 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540321497 CA6753508 |
315 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1445475737 CA386323258 |
316 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 318 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263111731 CA386323305 |
319 | K>E | No |
ClinGen gnomAD |
|
|
CA242550393 rs953501914 |
319 | K>T | No |
ClinGen Ensembl |
|
|
CA6753509 rs116891695 |
321 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242550404 rs941504253 |
322 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762350787 CA386323432 |
325 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs762534225 CA6753536 |
326 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298850817 CA386323476 |
327 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1372804988 CA386323491 |
329 | T>S | No |
ClinGen gnomAD |
|
|
CA386323513 rs1444317491 |
332 | D>E | No |
ClinGen TOPMed |
|
|
CA6753537 rs765860662 |
332 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751073447 CA6753538 |
336 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759301090 CA6753539 |
338 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386323554 rs1350887733 |
338 | D>N | No |
ClinGen gnomAD |
|
|
rs1261827213 CA386323566 |
339 | I>T | No |
ClinGen gnomAD |
|
|
rs1381329965 CA386323581 |
341 | P>L | No |
ClinGen TOPMed |
|
|
CA386323583 rs1177091776 |
342 | I>V | No |
ClinGen gnomAD |
|
|
rs879150773 CA242550866 |
343 | W>S | No |
ClinGen Ensembl |
|
|
CA6753540 rs767254008 |
344 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6753541 rs752562529 |
346 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1178235071 CA386323650 |
351 | E>D | No |
ClinGen gnomAD |
|
| rs1454903094 | 352 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378649747 CA386323659 |
352 | E>D | No |
ClinGen gnomAD |
|
|
CA386323652 rs1436578733 |
352 | E>K | No |
ClinGen TOPMed |
|
|
rs375594636 CA6753543 |
353 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386323665 rs1364328926 |
353 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6753542 rs755932488 |
353 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753778542 CA6753544 |
354 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289815497 CA386323685 |
356 | K>R | No |
ClinGen TOPMed |
|
|
CA386323693 rs1340161527 |
357 | A>G | No |
ClinGen gnomAD |
|
|
CA386323697 rs1396378121 |
358 | F>V | No |
ClinGen gnomAD |
|
|
rs1400817670 CA386323706 |
359 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1354079125 CA386323704 |
359 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386323715 rs1023202465 |
360 | K>I | No |
ClinGen gnomAD |
|
|
rs1023202465 CA242550885 |
360 | K>R | No |
ClinGen gnomAD |
|
|
CA386323741 rs1374110784 |
364 | K>T | No |
ClinGen gnomAD |
|
|
rs1417090011 CA386324282 |
366 | S>G | No |
ClinGen gnomAD |
|
|
CA6753566 rs765175597 |
367 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386324334 rs1170738721 |
373 | I>V | No |
ClinGen gnomAD |
|
|
CA386324346 rs1385298900 |
374 | H>Q | No |
ClinGen TOPMed |
|
|
rs913376058 CA242551646 |
374 | H>Y | No |
ClinGen Ensembl |
|
|
rs751672357 CA6753567 |
377 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781410380 CA6753569 |
383 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386324450 rs1399931391 |
385 | S>T | No |
ClinGen gnomAD |
|
|
rs1566167114 CA386324457 |
386 | I>T | No |
ClinGen Ensembl |
|
|
CA6753570 rs748423891 |
386 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386324468 rs1364548094 |
388 | F>L | No |
ClinGen gnomAD |
|
|
CA6753571 rs756351032 |
389 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749641452 CA6753573 |
391 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141254870 CA6753575 |
395 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1215782880 CA386324547 |
397 | L>P | No |
ClinGen gnomAD |
|
|
CA386324562 rs1319810115 |
398 | F>L | No |
ClinGen TOPMed |
|
|
CA6753577 rs768456646 |
399 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753580 rs374437641 |
400 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6753579 rs374437641 |
400 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 405 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375491950 CA386324671 |
407 | D>N | No |
ClinGen gnomAD |
|
|
CA6753583 rs377747819 |
409 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219171564 CA386324807 |
412 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1283442344 CA386324819 |
413 | V>M | No |
ClinGen gnomAD |
|
|
CA6753601 rs368374645 COSM1358305 |
414 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6753602 rs535356548 |
414 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769691480 CA6753603 |
415 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA386324853 rs1443504979 |
415 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242551764 rs564418201 |
420 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6753605 rs762914379 |
420 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386324981 rs752793223 |
421 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752793223 CA6753607 COSM1746692 |
421 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760767560 CA6753608 |
423 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6753610 rs754033382 |
425 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1380790566 CA386325172 |
430 | L>V | No |
ClinGen gnomAD |
|
|
CA242551785 rs866621254 |
431 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 431 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779460770 CA6753612 |
435 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 448 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423322869 CA386325443 |
450 | T>A | No |
ClinGen gnomAD |
|
|
CA386325533 rs1169896225 |
457 | L>R | No |
ClinGen gnomAD |
|
|
CA6753657 rs755552464 |
463 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748998107 CA6753659 |
466 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA242552281 rs938232098 |
466 | R>H | No |
ClinGen TOPMed |
|
|
CA242552284 rs772910819 |
468 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6753661 rs778817387 |
471 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753662 rs146962447 |
473 | K>T | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 477 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772079656 CA6753663 |
478 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1468251983 CA386326741 |
479 | K>E | No |
ClinGen gnomAD |
|
|
CA6753665 rs748255104 |
481 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6753666 rs770060582 |
482 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148024900 CA6753667 |
483 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242552307 rs749624178 |
486 | K>E | No |
ClinGen Ensembl |
|
|
CA6753668 rs763311324 |
486 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434063039 CA386326878 |
488 | F>L | No |
ClinGen TOPMed |
|
|
CA386326908 rs1318897721 |
490 | T>I | No |
ClinGen TOPMed |
|
|
rs1008206764 CA242552313 |
494 | L>F | No |
ClinGen Ensembl |
|
|
CA6753670 rs774797218 |
497 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753669 rs766483420 |
497 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1323479949 CA386327010 |
499 | D>N | No |
ClinGen gnomAD |
|
|
CA6753671 rs759775976 |
500 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA386327052 rs1441073648 |
501 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386327054 rs1441073648 |
501 | S>W | No |
ClinGen gnomAD |
|
|
CA6753673 COSM934196 rs753142679 |
503 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA242552329 rs1020103855 |
505 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs964195316 CA242552333 |
505 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1426851082 CA386327102 |
506 | L>V | No |
ClinGen TOPMed |
|
|
rs374505761 CA6753674 |
508 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA242552340 rs997420214 |
508 | K>T | No |
ClinGen Ensembl |
|
|
rs1193244585 CA386327154 |
509 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 514 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386327235 rs1593491570 |
518 | P>S | No |
ClinGen Ensembl |
|
|
rs548726780 CA242552365 |
522 | T>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA386327318 rs1165775955 |
523 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs372371380 CA386327391 |
526 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162506371 CA386327427 |
528 | V>A | No |
ClinGen gnomAD |
|
|
rs983044082 CA242552372 |
528 | V>M | No |
ClinGen gnomAD |
|
|
CA386327509 rs1441179893 |
532 | K>Q | No |
ClinGen gnomAD |
|
|
CA6753679 rs559401907 |
533 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs34482425 CA242552384 |
534 | K>N | No |
ClinGen Ensembl |
|
|
rs758073589 CA6753680 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA386327597 rs1392559370 |
537 | K>E | No |
ClinGen gnomAD |
|
|
rs1355328251 CA386327607 |
537 | K>N | No |
ClinGen gnomAD |
|
|
rs1308375520 CA386327603 |
537 | K>R | No |
ClinGen gnomAD |
|
|
CA6753681 rs528169940 |
538 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765949732 CA6753683 |
541 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753686 rs771213027 |
547 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA242552409 rs113326059 |
548 | E>G | No |
ClinGen Ensembl |
|
|
rs1485338698 CA386327825 |
549 | A>T | No |
ClinGen gnomAD |
|
|
CA242552515 rs1041090731 |
550 | E>Q | No |
ClinGen Ensembl |
|
|
rs899875096 CA242552519 |
553 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 554 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386327880 rs1323473420 |
557 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs373394058 CA6753700 |
557 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996947731 CA386327889 |
558 | L>F | No |
ClinGen gnomAD |
|
|
CA242552523 rs996947731 |
558 | L>I | No |
ClinGen gnomAD |
|
|
CA242552527 rs945371051 |
560 | K>R | No |
ClinGen TOPMed |
|
|
rs754983817 CA6753701 |
561 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781232223 CA6753702 |
563 | Y>C | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 565 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 567 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6753704 rs770860797 |
568 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779039753 CA6753705 |
569 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386328200 rs1458843568 |
577 | I>F | No |
ClinGen TOPMed |
|
|
rs952874243 CA242552543 |
579 | A>V | No |
ClinGen Ensembl |
|
|
rs772306767 COSM1706178 CA6753707 |
581 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA242552546 rs903938928 |
581 | P>S | No |
ClinGen TOPMed |
|
|
CA6753710 COSM1210055 rs769155096 |
582 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA242552562 rs763298993 |
588 | F>L | No |
ClinGen gnomAD |
|
|
rs1319483638 CA386328402 |
591 | V>L | No |
ClinGen gnomAD |
|
|
rs762366467 CA6753712 |
592 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386328437 rs1229397712 |
593 | K>E | No |
ClinGen gnomAD |
|
|
CA6753714 rs749915295 |
597 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6753715 rs762557855 |
598 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6753717 rs751434474 |
600 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA242552581 COSM109200 rs143727498 |
601 | S>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6753718 rs754755916 |
603 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1188817127 CA386328656 |
606 | E>D | No |
ClinGen gnomAD |
|
|
CA6753719 rs141744749 |
606 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6753720 rs752636677 |
608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756076475 CA6753721 |
608 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386328755 rs1566167719 |
611 | V>A | No |
ClinGen Ensembl |
|
|
CA242552597 rs567003190 |
611 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs778900551 CA6753722 |
614 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753723 rs757332238 |
616 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347335308 CA386328902 |
620 | N>S | No |
ClinGen gnomAD |
|
|
rs1325518885 CA386328933 |
621 | W>L | No |
ClinGen gnomAD |
|
|
CA6753725 rs780183351 |
622 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1289744291 CA386328957 |
622 | M>V | No |
ClinGen TOPMed |
|
|
CA386329040 rs1226190814 |
624 | D>A | No |
ClinGen TOPMed |
|
|
CA6753727 rs747385288 |
627 | L>F | No |
ClinGen ExAC |
|
|
CA6753728 rs114330942 |
629 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1387737442 CA386329191 |
630 | K>* | No |
ClinGen TOPMed |
|
|
CA386329397 rs1343337431 |
633 | K>N | No |
ClinGen TOPMed |
|
|
rs1463205499 CA386329411 |
634 | A>T | No |
ClinGen gnomAD |
|
|
CA6753736 rs759251898 |
634 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6753738 rs752506564 |
636 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs377323380 CA6753737 |
636 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 637 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277290411 CA386329479 |
637 | S>F | No |
ClinGen TOPMed |
|
|
CA242552810 rs562235742 |
639 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1021322098 CA242552814 |
639 | R>H | No |
ClinGen gnomAD |
|
|
CA6753739 rs562235742 |
639 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332303824 CA386329568 |
641 | T>I | No |
ClinGen gnomAD |
|
|
rs141949667 CA242552833 |
642 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754939231 CA6753743 |
644 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6753745 rs200619766 |
649 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs770239470 CA6753749 |
653 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6753748 rs748492752 |
653 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6753750 rs773705690 |
655 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1566167847 CA386329752 |
655 | S>C | No |
ClinGen Ensembl |
|
|
CA242552870 rs3209749 |
657 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs748763994 CA6753751 |
657 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6753752 rs770625043 |
658 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1593492108 CA386329815 |
659 | E>G | No |
ClinGen Ensembl |
|
|
rs924455319 CA242552884 |
661 | I>L | No |
ClinGen Ensembl |
|
|
rs1593492114 CA386329872 |
662 | M>K | No |
ClinGen Ensembl |
|
|
rs767257687 CA6753755 |
669 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386330053 rs1284448868 |
672 | D>N | No |
ClinGen gnomAD |
|
|
CA6753757 rs760451741 |
673 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386330123 rs1193613717 |
675 | T>I | No |
ClinGen gnomAD |
|
|
CA386330133 rs1305995754 |
676 | N>T | No |
ClinGen TOPMed |
|
|
rs373656293 CA242557329 |
679 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA386331685 rs367709041 |
680 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367709041 CA6753784 |
680 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 681 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778242700 CA6753785 |
681 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs144295543 CA6753786 |
684 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577690613 CA6753787 |
689 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386331804 rs1365409333 |
690 | R>K | No |
ClinGen gnomAD |
|
|
CA6753789 rs372636341 |
692 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768168995 CA6753793 |
694 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs980541195 CA242557350 |
695 | R>K | No |
ClinGen Ensembl |
|
|
CA6753795 rs776430209 |
695 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753796 rs553845953 |
696 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 699 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM934198 rs769723826 CA6753797 |
699 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386331906 rs773080167 |
700 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773080167 CA6753798 |
700 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374724193 CA242557357 |
701 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374724193 CA6753799 |
701 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs962400260 CA386331930 |
702 | K>N | No |
ClinGen TOPMed |
|
|
CA242557391 rs956056573 |
705 | E>A | No |
ClinGen TOPMed |
|
|
CA242557389 rs200307600 |
705 | E>K | No |
ClinGen 1000Genomes |
|
|
rs780752923 CA6753816 |
706 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242557396 rs780752923 |
706 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753817 rs747953980 |
708 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA6753818 rs769638805 |
709 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386332053 rs1375463361 |
709 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 709 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386332079 rs1434244856 |
712 | D>N | No |
ClinGen gnomAD |
|
|
rs943439192 CA242557400 |
713 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 714 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6753819 rs555733986 |
716 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6753820 rs749290700 |
718 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1289464030 CA386332202 |
719 | E>Q | No |
ClinGen gnomAD |
|
|
rs1355227279 CA386332246 |
722 | T>A | No |
ClinGen gnomAD |
|
|
CA242557405 rs576372064 |
722 | T>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs760632547 CA386332267 |
724 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753823 rs760632547 |
724 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770752783 CA6753821 COSM1746693 |
724 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386332287 rs1298442971 |
726 | G>W | No |
ClinGen gnomAD |
|
|
CA6753824 rs764417541 |
729 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs765735543 CA6753827 |
734 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369072974 CA6753828 |
735 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766753059 CA6753830 |
737 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386332581 rs1424025856 |
741 | R>S | No |
ClinGen gnomAD |
|
|
rs751081426 CA6753831 |
744 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754385043 CA6753832 |
744 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753834 rs188648559 |
747 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA6753835 rs142406645 |
748 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386332775 rs1375321125 |
750 | D>E | No |
ClinGen gnomAD |
|
|
rs748988664 CA6753837 |
752 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386332816 rs1380248702 |
753 | A>S | No |
ClinGen gnomAD |
|
|
rs1381846115 CA386332820 |
753 | A>V | No |
ClinGen gnomAD |
|
|
CA386332835 rs1220841786 |
754 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386332825 rs1566168803 |
754 | K>Q | No |
ClinGen Ensembl |
|
|
rs1302766405 CA386332858 |
755 | V>L | No |
ClinGen gnomAD |
|
|
rs767056897 CA6753853 |
756 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767056897 CA386332862 |
756 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6753855 rs755787354 |
758 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6753857 rs753671495 |
760 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242557546 rs140225827 |
761 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA386332910 rs1593493780 |
762 | E>D | No |
ClinGen Ensembl |
|
|
rs376271632 CA6753858 |
763 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238823762 CA386332925 |
765 | E>K | No |
ClinGen TOPMed |
|
|
rs1371151116 CA386332938 |
766 | T>I | No |
ClinGen TOPMed |
|
|
rs200650067 CA242557550 |
767 | A>E | No |
ClinGen Ensembl |
|
|
rs370313687 CA6753860 |
767 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs1476720153 CA386332946 |
768 | E>G | No |
ClinGen gnomAD |
|
|
rs745833035 CA6753861 |
768 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6753862 rs776861206 |
769 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386332961 rs1420772924 |
770 | T>I | No |
ClinGen TOPMed |
|
|
rs1426437528 CA386332958 |
770 | T>P | No |
ClinGen gnomAD |
|
|
CA242557561 rs569291244 |
771 | T>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs781442255 CA6753863 |
771 | T>I | No |
ClinGen ExAC |
|
|
rs1036233143 CA242557563 |
772 | E>A | No |
ClinGen TOPMed |
|
|
CA6753864 rs748195956 |
773 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6753865 rs770142573 |
774 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386332983 rs535057154 |
774 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535057154 CA6753866 |
774 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1348210757 CA386332991 |
775 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 775 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760087578 COSM934200 CA6753870 |
778 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6753871 rs767966985 |
780 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1245850445 CA386333032 |
780 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 782 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144178041 CA6753872 |
782 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286221590 CA386333051 |
783 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs760113921 CA6753873 |
785 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1272069908 | 787 | D>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386333090 CA386333089 rs1223103257 |
788 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242557586 rs910493716 |
790 | E>K | No |
ClinGen gnomAD |
|
|
rs910493716 CA242557588 |
790 | E>Q | No |
ClinGen gnomAD |
|
|
rs763820579 CA6753875 |
791 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242557591 rs199613394 |
791 | E>K | No |
ClinGen Ensembl |
|
|
rs199613394 CA242557593 |
791 | E>Q | No |
ClinGen Ensembl |
|
|
rs753493088 CA6753876 |
794 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242557654 rs372146745 |
795 | E>A | No |
ClinGen gnomAD |
|
|
rs1356183173 CA386333145 |
795 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1333261091 CA386333158 |
797 | T>I | No |
ClinGen gnomAD |
|
|
CA6753904 rs751610640 |
798 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751610640 CA386333159 |
798 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386333164 rs1472159708 |
799 | E>K | No |
ClinGen TOPMed |
|
|
rs777767051 CA6753906 |
801 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386333189 rs1340884541 |
802 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 803 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P14625
Functions
18 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endocytic vesicle lumen | The volume enclosed by the membrane of an endocytic vesicle. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum chaperone complex | A protein complex that is located in the endoplasmic reticulum and is composed of chaperone proteins, including BiP, GRP94; CaBP1, protein disulfide isomerase (PDI), ERdj3, cyclophilin B, ERp72, GRP170, UDP-glucosyltransferase, and SDF2-L1. |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| sarcoplasmic reticulum lumen | The volume enclosed by the membranes of the sarcoplasmic reticulum. |
| sperm plasma membrane | A plasma membrane that is part of a sperm cell. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATP-dependent protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process, driven by ATP hydrolysis. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| unfolded protein binding | Binding to an unfolded protein. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| actin rod assembly | The assembly of actin rods, a cellular structure consisting of parallel, hexagonally arranged actin tubules. |
| cellular response to ATP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ATP (adenosine 5'-triphosphate) stimulus. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein folding in endoplasmic reticulum | A protein folding process that takes place in the endoplasmic reticulum (ER). Secreted, plasma membrane and organelle proteins are folded in the ER, assisted by chaperones and foldases (protein disulphide isomerases), and additional factors required for optimal folding (ATP, Ca2+ and an oxidizing environment to allow disulfide bond formation). |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of phosphoprotein phosphatase activity | Any process that modulates the frequency, rate or extent of phosphoprotein phosphatase activity, the catalysis of the hydrolysis of phosphate from a phosphoprotein. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| retrograde protein transport, ER to cytosol | The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon. |
| sequestering of calcium ion | The process of binding or confining calcium ions such that they are separated from other components of a biological system. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRALWVLGLC | CVLLTFGSVR | ADDEVDVDGT | VEEDLGKSRE | GSRTDDEVVQ | REEEAIQLDG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNASQIRELR | EKSEKFAFQA | EVNRMMKLII | NSLYKNKEIF | LRELISNASD | ALDKIRLISL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TDENALSGNE | ELTVKIKCDK | EKNLLHVTDT | GVGMTREELV | KNLGTIAKSG | TSEFLNKMTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AQEDGQSTSE | LIGQFGVGFY | SAFLVADKVI | VTSKHNNDTQ | HIWESDSNEF | SVIADPRGNT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGRGTTITLV | LKEEASDYLE | LDTIKNLVKK | YSQFINFPIY | VWSSKTETVE | EPMEEEEAAK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEKEESDDEA | AVEEEEEEKK | PKTKKVEKTV | WDWELMNDIK | PIWQRPSKEV | EEDEYKAFYK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SFSKESDDPM | AYIHFTAEGE | VTFKSILFVP | TSAPRGLFDE | YGSKKSDYIK | LYVRRVFITD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DFHDMMPKYL | NFVKGVVDSD | DLPLNVSRET | LQQHKLLKVI | RKKLVRKTLD | MIKKIADDKY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NDTFWKEFGT | NIKLGVIEDH | SNRTRLAKLL | RFQSSHHPTD | ITSLDQYVER | MKEKQDKIYF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MAGSSRKEAE | SSPFVERLLK | KGYEVIYLTE | PVDEYCIQAL | PEFDGKRFQN | VAKEGVKFDE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SEKTKESREA | VEKEFEPLLN | WMKDKALKDK | IEKAVVSQRL | TESPCALVAS | QYGWSGNMER |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IMKAQAYQTG | KDISTNYYAS | QKKTFEINPR | HPLIRDMLRR | IKEDEDDKTV | LDLAVVLFET |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ATLRSGYLLP | DTKAYGDRIE | RMLRLSLNID | PDAKVEEEPE | EEPEETAEDT | TEDTEQDEDE |
| 790 | 800 | ||||
| EMDVGTDEEE | ETAKESTAEK | DEL |