Q13905
Gene name |
RAPGEF1 (GRF2) |
Protein name |
Rap guanine nucleotide exchange factor 1 |
Names |
CRK SH3-binding GNRP, Guanine nucleotide-releasing factor 2, Protein C3G |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2889 |
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

2 structures for Q13905
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
5L23 | X-ray | 177 A | B | 279-293 | PDB |
AF-Q13905-F1 | Predicted | AlphaFoldDB |
683 variants for Q13905
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
TCGA novel | 2 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5295464 rs750512966 |
2 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295463 rs569531916 |
3 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5295402 rs779630118 |
7 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1241986147 CA375317586 |
9 | H>Y | No |
ClinGen gnomAD |
|
rs1317300327 CA375317578 |
10 | L>F | No |
ClinGen gnomAD |
|
rs552631144 CA200781870 |
10 | L>P | No |
ClinGen gnomAD |
|
rs1302888729 CA375317541 |
15 | M>I | No |
ClinGen gnomAD |
|
CA375317525 rs1457103614 |
18 | M>K | No |
ClinGen TOPMed |
|
rs766799115 CA5295399 |
18 | M>L | No |
ClinGen ExAC gnomAD |
|
CA200781858 rs1041771986 |
20 | K>R | No |
ClinGen Ensembl |
|
COSM48732 rs760273194 COSM1460663 CA5295398 |
21 | F>L | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1292094371 CA375317495 |
22 | H>Y | No |
ClinGen TOPMed |
|
rs1364731661 CA375317466 |
26 | I>T | No |
ClinGen gnomAD |
|
rs767050584 CA5295396 |
26 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5295395 rs761441085 |
27 | K>R | No |
ClinGen ExAC gnomAD |
|
COSM1263807 CA375317444 rs1416280444 |
29 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1588766721 CA375317432 |
31 | S>L | No |
ClinGen Ensembl |
|
CA5295392 rs762821919 |
32 | K>E | No |
ClinGen ExAC gnomAD |
|
COSM263254 rs374143304 CA200781827 |
32 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
CA375317407 rs1486187697 |
35 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA375317403 rs756507437 |
36 | P>A | No |
ClinGen gnomAD |
|
rs1236669500 CA375317399 |
36 | P>L | No |
ClinGen gnomAD |
|
rs756507437 CA200781816 |
36 | P>T | No |
ClinGen gnomAD |
|
rs1321277615 CA375317398 |
37 | A>T | No |
ClinGen TOPMed |
|
CA375317390 rs1293557486 |
38 | E>A | No |
ClinGen gnomAD |
|
CA375317386 rs1232094776 |
38 | E>D | No |
ClinGen gnomAD |
|
rs775289732 CA5295390 |
38 | E>K | No |
ClinGen ExAC gnomAD |
|
rs548185079 CA5295389 |
40 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA5295387 rs565949828 |
41 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295386 rs565949828 |
41 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748242931 CA5295385 |
42 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs573240392 CA5295384 |
44 | P>A | No |
ClinGen ExAC gnomAD |
|
rs573240392 CA375317355 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
rs368190968 CA5295383 |
46 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375317335 rs1351783373 |
47 | P>A | No |
ClinGen gnomAD |
|
CA375317328 rs1165941485 |
48 | V>M | No |
ClinGen gnomAD |
|
rs754353280 CA5295382 |
50 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759434441 CA5295369 |
51 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1434901414 CA375317290 |
52 | A>T | No |
ClinGen gnomAD |
|
rs776221362 CA5295368 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1459408314 CA375317275 |
54 | D>G | No |
ClinGen gnomAD |
|
CA375317274 rs1459408314 |
54 | D>V | No |
ClinGen gnomAD |
|
TCGA novel | 55 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375317259 rs1192823728 |
56 | F>C | No |
ClinGen gnomAD |
|
CA375317261 rs1192823728 |
56 | F>Y | No |
ClinGen gnomAD |
|
CA375317253 rs1345567197 |
57 | L>P | No |
ClinGen TOPMed |
|
rs1466833562 CA375317249 |
58 | P>S | No |
ClinGen gnomAD |
|
CA5295367 rs772351694 |
60 | G>S | No |
ClinGen ExAC gnomAD |
|
CA200781454 rs962572451 |
61 | Y>C | No |
ClinGen gnomAD |
|
rs1408632806 CA375317220 |
62 | P>L | No |
ClinGen TOPMed |
|
rs748330721 CA5295366 |
66 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA375317162 rs1350744044 |
71 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs61758813 CA200781419 |
72 | V>I | No |
ClinGen Ensembl |
|
TCGA novel | 73 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5295364 rs768893162 |
73 | E>V | No |
ClinGen ExAC gnomAD |
|
CA375317144 rs1440670679 |
74 | F>L | No |
ClinGen gnomAD |
|
rs1170916051 CA375317132 |
75 | M>I | No |
ClinGen gnomAD |
|
rs1289615839 CA375317136 |
75 | M>L | No |
ClinGen TOPMed |
|
CA5295362 rs780666444 |
76 | S>T | No |
ClinGen ExAC gnomAD |
|
CA200781403 rs1035069614 |
78 | S>C | No |
ClinGen Ensembl |
|
rs1391974965 CA375317104 |
80 | V>L | No |
ClinGen gnomAD |
|
TCGA novel | 82 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1588760157 CA375317078 |
84 | S>A | No |
ClinGen Ensembl |
|
CA5295361 rs375205005 |
86 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375317056 rs1422042195 |
87 | Q>R | No |
ClinGen gnomAD |
|
rs760511714 CA375317030 |
89 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760511714 CA5295349 |
89 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295348 rs377352437 |
91 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374523476 CA5295347 |
97 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA375316952 rs749443716 |
99 | E>D | No |
ClinGen ExAC gnomAD |
|
CA375316949 rs1485719219 |
100 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA5295345 rs775368540 |
102 | S>G | No |
ClinGen ExAC gnomAD |
|
rs770350389 CA5295344 |
105 | R>C | No |
ClinGen ExAC gnomAD |
|
rs972675664 CA200777528 |
105 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA375316889 rs1286761126 |
109 | T>N | No |
ClinGen gnomAD |
|
rs1252508430 CA375316877 |
111 | V>L | No |
ClinGen gnomAD |
|
rs746315253 CA5295343 |
118 | K>E | No |
ClinGen ExAC gnomAD |
|
CA5295342 rs781646236 |
118 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1235153711 CA375316799 |
122 | E>A | No |
ClinGen gnomAD |
|
CA375316786 rs1356183684 |
123 | M>I | No |
ClinGen gnomAD |
|
rs961301715 CA200777505 |
128 | A>T | No |
ClinGen TOPMed |
|
CA375316748 rs1249256151 |
130 | K>E | No |
ClinGen TOPMed |
|
rs758043867 CA5295338 |
135 | I>F | No |
ClinGen ExAC gnomAD |
|
CA5295337 rs752263305 |
136 | L>V | No |
ClinGen ExAC gnomAD |
|
CA375316703 rs1382246609 |
137 | P>T | No |
ClinGen gnomAD |
|
CA5295335 rs754973960 |
139 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5295332 rs760601332 |
142 | D>N | Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5295331 rs750235990 |
144 | R>G | No |
ClinGen ExAC gnomAD |
|
CA375316655 rs1216895774 |
144 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1216895774 CA375316657 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA5295330 rs764413427 |
146 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753371032 CA5295316 |
151 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs780204978 CA5295315 |
151 | L>H | No |
ClinGen ExAC gnomAD |
|
CA375316589 rs1252633175 |
152 | S>C | No |
ClinGen gnomAD |
|
CA375316588 rs1252633175 |
152 | S>F | No |
ClinGen gnomAD |
|
CA5295314 rs530339704 |
154 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375316578 rs1171090943 |
154 | C>S | No |
ClinGen TOPMed |
|
CA375316571 rs1416030588 |
155 | Y>C | No |
ClinGen TOPMed |
|
rs1399761789 CA375316574 |
155 | Y>H | No |
ClinGen TOPMed |
|
rs1309335863 CA375316556 |
157 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA375316539 rs1213903398 |
160 | Q>K | No |
ClinGen gnomAD |
|
rs752906356 CA5295310 |
164 | N>T | No |
ClinGen ExAC gnomAD |
|
COSM1263806 CA200774293 rs766549343 |
167 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs759592415 CA5295307 |
167 | R>H | No |
ClinGen ExAC gnomAD |
|
CA5295304 rs771434527 |
171 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA375316457 rs1564595593 |
172 | V>M | No |
ClinGen Ensembl |
|
CA5295303 rs761119892 |
173 | M>V | No |
ClinGen ExAC gnomAD |
|
CA375316421 rs1438680484 |
177 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA5295299 rs537239858 |
177 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA375316379 rs1203959931 |
183 | E>G | No |
ClinGen gnomAD |
|
rs768346306 CA5295298 |
183 | E>K | No |
ClinGen ExAC gnomAD |
|
CA5295297 rs201045584 |
184 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5295296 rs779650960 |
186 | T>M | Variant assessed as Somatic; 0.0001856 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375316327 rs1285755980 |
191 | V>I | No |
ClinGen TOPMed |
|
rs756146215 CA5295295 |
192 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5295294 rs745762812 |
193 | K>R | No |
ClinGen ExAC gnomAD |
|
rs561177809 CA375316302 |
195 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs561177809 CA200774209 |
195 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs768203706 CA375315632 |
201 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372245486 CA5295277 |
205 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372245486 CA200769232 |
205 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375315609 rs1588599157 |
206 | T>P | No |
ClinGen Ensembl |
|
rs745352448 CA5295275 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1231388847 CA375315580 |
210 | Q>E | No |
ClinGen gnomAD |
|
CA5295273 rs200166424 |
212 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs116942407 CA5295272 |
212 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777567428 CA5295271 |
213 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1259996460 CA375315557 |
214 | S>P | No |
ClinGen gnomAD |
|
CA5295268 rs751308874 |
216 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 217 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1241690756 CA375315530 |
217 | S>C | No |
ClinGen gnomAD |
|
rs750494281 CA375315519 |
218 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750494281 CA5295266 |
218 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295265 rs541315585 |
219 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1381185635 CA375315465 |
222 | S>N | No |
ClinGen TOPMed |
|
CA375315453 rs1588598537 |
223 | S>P | No |
ClinGen Ensembl |
|
rs574296485 CA5295264 |
224 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5295263 rs774599191 |
224 | P>L | No |
ClinGen ExAC gnomAD |
|
CA5295262 rs764481637 |
228 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1165698903 CA375315370 |
229 | D>Y | No |
ClinGen gnomAD |
|
rs1407796539 CA375315290 |
232 | A>G | No |
ClinGen TOPMed |
|
CA5295236 rs771992780 |
233 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1588588108 CA375315258 |
234 | L>R | No |
ClinGen Ensembl |
|
rs200382304 CA5295235 |
234 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5295234 rs778617868 |
235 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375315245 rs1330928344 |
235 | P>L | No |
ClinGen gnomAD |
|
rs778617868 CA200768477 |
235 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370381401 CA5295232 |
236 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757409551 CA5295230 |
238 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295228 rs200860345 |
239 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200860345 CA5295229 |
239 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs568797999 CA5295226 |
240 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5295225 rs765649745 |
243 | I>N | No |
ClinGen ExAC gnomAD |
|
CA375315124 rs1181841534 |
245 | N>T | No |
ClinGen gnomAD |
|
CA5295223 rs753574257 |
246 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1249069086 CA375315108 |
246 | K>R | No |
ClinGen gnomAD |
|
rs765932532 CA5295222 |
247 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760298588 CA5295221 |
248 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375315029 rs1228499181 |
252 | Q>R | No |
ClinGen gnomAD |
|
CA375315013 rs1343070796 |
253 | S>P | No |
ClinGen gnomAD |
|
rs772006955 CA5295219 |
254 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761686123 CA5295218 |
257 | L>F | No |
ClinGen ExAC gnomAD |
|
CA375314938 rs550406702 |
258 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs550406702 CA5295216 |
258 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs776973464 CA5295214 |
259 | D>G | No |
ClinGen ExAC gnomAD |
|
CA5295215 rs749017299 |
259 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771058946 CA5295213 |
260 | A>S | No |
ClinGen ExAC gnomAD |
|
CA375314911 rs1333215645 |
261 | T>A | No |
ClinGen gnomAD |
|
rs1412570417 CA375314904 |
261 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs777943664 CA5295211 |
262 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs758997569 CA5295210 |
263 | E>D | No |
ClinGen ExAC gnomAD |
|
COSM246952 rs779538227 CA5295208 |
266 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1476448048 CA375314850 |
266 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5295206 rs754148058 |
268 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1564570119 | 269 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375314826 rs1441052004 |
270 | P>L | No |
ClinGen gnomAD |
|
CA5295205 rs766059876 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
rs755659873 CA5295204 |
273 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs755659873 CA375314810 |
273 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1266287430 CA375314791 |
276 | R>Q | No |
ClinGen gnomAD |
|
rs749968456 CA5295203 |
276 | R>W | No |
ClinGen ExAC gnomAD |
|
CA375314779 rs1355959442 |
278 | V>I | No |
ClinGen gnomAD |
|
CA5295188 rs780229591 |
285 | A>T | No |
ClinGen ExAC gnomAD |
|
CA200768013 rs1128780 |
287 | P>T | No |
ClinGen Ensembl |
|
CA375314518 rs1422316325 |
293 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA5295185 rs767136792 |
294 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767136792 CA200767988 |
294 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295184 rs376984562 |
294 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5295182 rs764100628 |
295 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746924191 CA200767986 |
295 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA375314461 rs1588582063 |
298 | T>P | No |
ClinGen Ensembl |
|
CA5295180 rs775378161 |
299 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764902555 CA5295179 |
299 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1588581945 CA375314435 |
300 | V>G | No |
ClinGen Ensembl |
|
rs773624761 CA5295177 |
302 | V>G | No |
ClinGen ExAC gnomAD |
|
CA375314418 rs759346484 |
302 | V>L | No |
ClinGen ExAC gnomAD |
|
CA5295178 rs759346484 |
302 | V>M | No |
ClinGen ExAC gnomAD |
|
CA375314398 rs772416369 |
303 | V>A | No |
ClinGen ExAC gnomAD |
|
CA5295176 rs772416369 |
303 | V>G | No |
ClinGen ExAC gnomAD |
|
rs1184917903 CA375314385 |
304 | A>G | No |
ClinGen TOPMed |
|
CA375314388 rs1234546327 |
304 | A>S | No |
ClinGen gnomAD |
|
CA375314369 rs1366522869 |
305 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA375314375 rs1421743489 |
305 | P>S | No |
ClinGen TOPMed |
|
rs1000237593 CA200767960 |
306 | M>R | No |
ClinGen Ensembl |
|
rs190989207 CA5295174 |
308 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5295173 rs527872016 |
309 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs527872016 CA5295172 |
309 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA375314292 rs1356729026 |
311 | S>G | No |
ClinGen gnomAD |
|
rs1309179569 CA375314261 |
313 | S>T | No |
ClinGen gnomAD |
|
rs1369071723 CA375314184 |
318 | G>A | No |
ClinGen gnomAD |
|
CA375314183 rs1369071723 |
318 | G>E | No |
ClinGen gnomAD |
|
rs780578485 CA5295171 |
319 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5295170 rs770102713 |
321 | R>G | No |
ClinGen ExAC gnomAD |
|
CA5295169 rs746220458 |
321 | R>K | No |
ClinGen ExAC gnomAD |
|
CA200767922 rs979172358 |
322 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA375314069 rs1266892989 |
325 | D>G | No |
ClinGen gnomAD |
|
rs1329480257 CA375314072 |
325 | D>Y | No |
ClinGen gnomAD |
|
CA200767561 rs750447980 |
326 | V>A | No |
ClinGen Ensembl |
|
rs746627497 CA5295149 |
327 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 329 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs182027174 CA5295147 |
330 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs182027174 CA5295146 |
330 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 331 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1342575366 CA375314000 |
331 | Q>R | No |
ClinGen TOPMed |
|
rs1250638471 CA375313973 |
333 | R>* | No |
ClinGen gnomAD |
|
rs1301505486 CA375313969 |
333 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1455727582 CA375313931 |
336 | G>V | No |
ClinGen gnomAD |
|
CA375313922 rs1419856927 |
338 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs1165391734 CA375313900 |
339 | H>P | No |
ClinGen gnomAD |
|
rs1253793243 CA375313874 |
341 | Y>C | No |
ClinGen gnomAD |
|
rs1423233918 CA375313880 |
341 | Y>N | No |
ClinGen gnomAD |
|
CA5295143 rs753703794 |
342 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5295142 rs766236097 |
343 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA200767529 rs766236097 |
343 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375313817 rs1469412129 |
345 | S>A | No |
ClinGen gnomAD |
|
CA375313811 rs1265575067 |
345 | S>L | No |
ClinGen gnomAD |
|
rs1469412129 CA375313819 |
345 | S>P | No |
ClinGen gnomAD |
|
rs1321690179 CA375313802 |
346 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA375313806 rs1321690179 |
346 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs367625883 CA5295138 |
347 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1366135536 CA375313764 |
349 | S>F | No |
ClinGen gnomAD |
|
CA5295137 rs763011858 |
349 | S>P | No |
ClinGen ExAC gnomAD |
|
CA375313738 rs1433253891 |
351 | C>W | No |
ClinGen gnomAD |
|
CA375313747 rs1320147741 |
351 | C>Y | No |
ClinGen gnomAD |
|
rs1235733509 CA375313730 |
352 | S>G | No |
ClinGen gnomAD |
|
CA375313728 rs1392957194 |
352 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1294247888 CA375313712 |
353 | S>N | No |
ClinGen gnomAD |
|
rs1062978 CA200767507 |
355 | G>D | No |
ClinGen Ensembl |
|
CA375313688 rs1457306749 |
355 | G>S | No |
ClinGen gnomAD |
|
CA5295136 rs775574339 |
356 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375313661 rs17148118 |
356 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs371392582 CA5295134 |
357 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777015030 CA200767480 |
359 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777015030 CA5295133 |
359 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs536979724 CA5295130 |
361 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1267397488 CA375313534 |
361 | D>G | No |
ClinGen gnomAD |
|
rs747623029 CA5295128 |
362 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375313527 rs1488414551 |
362 | E>K | No |
ClinGen gnomAD |
|
rs530351728 CA200767470 |
363 | Q>E | No |
ClinGen 1000Genomes |
|
CA375313444 rs1207662154 |
369 | R>K | No |
ClinGen gnomAD |
|
CA375313362 rs1226433053 |
374 | C>W | No |
ClinGen gnomAD |
|
CA5295127 rs376229385 |
374 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1266980197 CA375313350 |
375 | S>F | No |
ClinGen Ensembl |
|
CA5295125 rs199925290 |
376 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374421425 CA200767451 |
376 | R>W | No |
ClinGen ESP gnomAD |
|
CA375313329 rs1588574880 |
377 | N>K | No |
ClinGen Ensembl |
|
rs780117501 CA5295124 |
379 | S>G | No |
ClinGen ExAC gnomAD |
|
CA375313312 rs1309770062 |
379 | S>N | No |
ClinGen gnomAD |
|
CA200767447 rs1045172248 |
380 | C>Y | No |
ClinGen gnomAD |
|
rs1347894060 CA375313292 |
381 | E>Q | No |
ClinGen TOPMed |
|
rs1369689167 CA375313280 |
382 | T>I | No |
ClinGen gnomAD |
|
rs1257371749 CA375312906 |
385 | H>R | No |
ClinGen gnomAD |
|
rs376892315 CA5295104 |
386 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1336504576 CA375312843 |
389 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs753007338 CA5295102 |
389 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1309410835 CA375312832 |
390 | Y>C | No |
ClinGen gnomAD |
|
rs1229116067 CA375312762 |
395 | Q>E | No |
ClinGen gnomAD |
|
rs755111510 CA5295100 |
398 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766883155 CA5295098 COSM1223136 |
400 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA200766613 rs1007338204 |
400 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs750781112 CA5295095 |
404 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 406 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375312605 rs1448247712 |
406 | Q>R | No |
ClinGen TOPMed |
|
rs369751075 CA5295094 |
407 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774204811 CA5295092 |
408 | A>S | No |
ClinGen ExAC gnomAD |
|
CA5295089 rs201821916 |
412 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
CA375312567 rs201821916 |
412 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
rs369525791 CA5295088 |
413 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375312548 rs770812291 |
415 | P>A | No |
ClinGen ExAC gnomAD |
|
rs770812291 CA5295084 |
415 | P>S | No |
ClinGen ExAC gnomAD |
|
rs902525420 CA200766581 |
417 | S>A | No |
ClinGen TOPMed |
|
CA200766575 rs1054248746 |
418 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA375312528 rs1229942301 |
418 | L>S | No |
ClinGen gnomAD |
|
CA5295082 rs371991410 |
419 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755131975 CA5295081 |
421 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755131975 CA375312508 |
421 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs938128133 CA200766547 |
422 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1320801591 CA375312503 |
422 | G>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 425 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375312481 rs1385774561 |
426 | L>V | No |
ClinGen gnomAD |
|
TCGA novel | 427 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5295079 rs374122655 |
427 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
rs200859564 CA5295078 |
428 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 435 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5295077 rs750986831 |
435 | G>R | No |
ClinGen ExAC gnomAD |
|
CA5295075 rs200121349 |
436 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA375312419 rs943127639 |
436 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs943127639 CA200766519 |
436 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs113690899 CA5295073 |
437 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1365084985 CA375312395 |
440 | P>A | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 440 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA200766496 rs987242368 |
441 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA375312382 COSM1106190 rs1289062746 CA375312381 |
442 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA375312360 rs1208058639 |
445 | A>G | No |
ClinGen gnomAD |
|
rs1208058639 CA375312362 |
445 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1564559901 CA375312358 |
446 | P>A | No |
ClinGen Ensembl |
|
rs775172011 CA5295071 |
447 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327015667 CA375312328 |
450 | T>R | No |
ClinGen TOPMed |
|
rs776692924 CA375312315 |
452 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776692924 CA5295068 |
452 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295066 rs567525549 |
454 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1486903332 CA375312300 |
455 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1423362180 CA375312287 |
457 | P>H | No |
ClinGen gnomAD |
|
CA5295064 rs376162862 |
458 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376162862 CA375312284 |
458 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375312259 rs1463826499 |
461 | R>C | No |
ClinGen TOPMed |
|
rs374029787 CA200766458 |
461 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
rs184114333 CA5295063 |
463 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs756273659 CA5295061 |
464 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1262595294 CA375312221 |
467 | Q>R | No |
ClinGen gnomAD |
|
CA5295060 rs554713394 |
468 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295058 rs201889315 |
469 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA375312201 rs1204206244 |
470 | D>E | No |
ClinGen gnomAD |
|
rs758806260 CA5295055 |
471 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5295054 rs752450181 |
471 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA200766404 rs1010757833 |
472 | S>P | No |
ClinGen gnomAD |
|
CA375312190 rs1219516575 |
473 | G>R | No |
ClinGen gnomAD |
|
rs1588555769 CA375312153 |
476 | V>G | No |
ClinGen Ensembl |
|
CA5295052 rs759155807 |
477 | S>F | No |
ClinGen ExAC gnomAD |
|
CA375312119 rs1308967608 |
479 | E>G | No |
ClinGen gnomAD |
|
CA5295050 rs766359073 |
479 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1353187890 CA375312102 |
480 | R>Q | No |
ClinGen gnomAD |
|
CA5295049 rs376173506 |
480 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1346866162 CA375312070 |
482 | P>H | No |
ClinGen TOPMed |
|
CA5295048 rs773098573 |
482 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1415303385 CA375312056 |
483 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs893752079 CA200766392 |
485 | Y>C | No |
ClinGen Ensembl |
|
CA5295045 rs775848293 |
486 | D>E | No |
ClinGen ExAC gnomAD |
|
CA375312007 rs1174408844 |
486 | D>V | No |
ClinGen gnomAD |
|
CA375311998 rs1252466800 |
487 | N>H | No |
ClinGen gnomAD |
|
CA5295044 rs765702797 |
487 | N>S | No |
ClinGen ExAC gnomAD |
|
rs373197789 CA375311977 |
488 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375311980 rs373197789 |
488 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5295043 rs373197789 |
488 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5295041 rs757872808 |
490 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295042 rs781085034 |
490 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1260665570 CA375311932 |
491 | E>A | No |
ClinGen gnomAD |
|
rs559508150 CA200766373 CA5295040 |
492 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778402863 CA5295039 |
494 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295038 rs368775480 |
496 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5295037 rs377754261 |
498 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA200766334 rs529003708 |
500 | P>Q | No |
ClinGen 1000Genomes |
|
rs765844937 CA5295033 |
502 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs767437239 CA200766308 |
505 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767437239 CA5295030 |
505 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761600285 CA5295029 |
505 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295026 rs746039033 |
506 | P>S | No |
ClinGen ExAC gnomAD |
|
rs771184846 CA5295024 |
509 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1306924901 CA375311655 |
509 | A>P | No |
ClinGen TOPMed |
|
CA375311645 rs1370496429 |
510 | I>V | No |
ClinGen TOPMed |
|
CA5295023 rs747075977 |
511 | L>V | No |
ClinGen ExAC gnomAD |
|
rs757194093 CA200766267 |
512 | P>A | No |
ClinGen TOPMed |
|
rs1266991920 CA375311617 |
512 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs757194093 CA375311622 |
512 | P>S | No |
ClinGen TOPMed |
|
CA375311615 rs1294389521 |
513 | F>I | No |
ClinGen TOPMed |
|
rs985991825 CA200766261 |
513 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs577538218 CA5295020 |
514 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5295019 rs62636643 |
514 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5295018 rs755335903 |
515 | H>R | No |
ClinGen ExAC gnomAD |
|
CA5295017 rs200547421 |
517 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375311523 rs1382219909 |
517 | G>S | No |
ClinGen gnomAD |
|
rs779664732 CA375311470 |
521 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375311462 rs1389445050 |
521 | P>L | No |
ClinGen gnomAD |
|
rs779664732 CA5295016 |
521 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5295014 rs749868886 |
523 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs749868886 CA375311443 |
523 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1165151267 CA375311395 |
524 | F>S | No |
ClinGen gnomAD |
|
rs761688026 CA5295012 |
527 | D>N | No |
ClinGen ExAC gnomAD |
|
CA375311306 rs1564557641 |
529 | T>A | No |
ClinGen Ensembl |
|
CA5295011 rs751402679 |
529 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM263252 rs763837636 CA5295010 |
530 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs191870237 CA5295009 |
531 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1246828402 CA375311276 |
531 | P>L | No |
ClinGen gnomAD |
|
rs191870237 CA5295008 |
531 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760846647 CA5295006 |
533 | S>A | No |
ClinGen ExAC gnomAD |
|
rs201432710 CA5295005 |
533 | S>L | No |
ClinGen 1000Genomes ExAC |
|
TCGA novel | 533 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375311199 rs1267761747 |
534 | T>I | No |
ClinGen gnomAD |
|
rs372117592 CA5295003 |
535 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5295001 rs768955871 |
536 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs958069621 CA200766206 |
537 | P>A | No |
ClinGen Ensembl |
|
rs1482131475 CA375311157 |
537 | P>Q | No |
ClinGen Ensembl |
|
CA375311137 rs1230847799 |
538 | E>G | No |
ClinGen gnomAD |
|
CA375311109 rs1366239482 |
539 | K>N | No |
ClinGen gnomAD |
|
CA200766203 rs368355023 |
540 | P>L | No |
ClinGen ESP TOPMed |
|
CA352156 rs869025251 RCV001093195 RCV000208572 |
554 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs1377669569 CA375309969 |
555 | M>I | No |
ClinGen gnomAD |
|
rs1480368547 CA375309894 |
560 | D>N | No |
ClinGen gnomAD |
|
TCGA novel | 562 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5294980 rs769467724 |
562 | S>L | No |
ClinGen ExAC gnomAD |
|
CA5294977 rs139919312 |
568 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs919781198 CA200758122 |
568 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs370392666 CA5294978 |
568 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
rs1321249130 CA375309740 |
569 | F>L | No |
ClinGen gnomAD |
|
CA5294975 rs777579169 COSM379492 |
572 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1215744673 CA375309658 |
574 | Q>P | No |
ClinGen gnomAD |
|
COSM1223138 CA5294972 rs765088141 |
576 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA5294971 rs754794549 |
578 | I>M | No |
ClinGen ExAC gnomAD |
|
CA5294970 rs750728410 |
580 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294969 rs767773354 |
581 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs571623744 CA5294968 |
581 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs774429776 CA5294967 |
582 | K>R | No |
ClinGen ExAC gnomAD |
|
rs546552596 CA5294966 |
584 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs374511827 CA5294965 |
584 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1444279877 CA375309544 |
585 | L>F | No |
ClinGen gnomAD |
|
CA375309539 rs1257125956 |
585 | L>R | No |
ClinGen gnomAD |
|
CA375309536 rs1203348686 |
586 | L>F | No |
ClinGen gnomAD |
|
rs776335041 CA5294961 |
593 | S>G | No |
ClinGen ExAC gnomAD |
|
rs746517464 CA5294959 |
594 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375309445 rs1340635093 |
595 | S>P | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 595 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA200758029 rs960381402 |
596 | F>V | No |
ClinGen Ensembl |
|
CA375309402 rs1588517843 |
599 | V>G | No |
ClinGen Ensembl |
|
TCGA novel | 599 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375309392 rs1588517779 |
600 | D>A | No |
ClinGen Ensembl |
|
CA375309382 rs1390182147 |
601 | S>A | No |
ClinGen gnomAD |
|
rs777292477 CA5294958 COSM226225 |
601 | S>F | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1157121826 CA375309373 |
602 | V>E | No |
ClinGen gnomAD |
|
rs376953220 COSM220535 CA5294956 |
602 | V>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs376953220 CA5294955 |
602 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 605 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs955462283 CA200758017 |
605 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs754884637 CA5294954 |
606 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375309334 rs1321952000 |
606 | A>T | No |
ClinGen TOPMed |
|
CA375309327 rs754884637 |
606 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294952 rs184030691 |
607 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs753616962 CA5294953 |
607 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294950 rs751622230 |
608 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 610 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs372758833 CA5294947 |
610 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375309274 rs1290830531 |
612 | P>S | No |
ClinGen gnomAD |
|
rs368994640 CA5294946 |
613 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374656307 CA5294943 |
613 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374656307 CA5294944 |
613 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374656307 CA200757966 |
613 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375309266 rs368994640 |
613 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5294945 rs368994640 |
613 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 614 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 614 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375309229 rs1429415937 |
616 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1039814378 CA200757951 |
616 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA375309216 rs1324238144 |
617 | Q>H | No |
ClinGen gnomAD |
|
rs1430758682 CA375306093 |
620 | P>T | No |
ClinGen gnomAD |
|
CA5294786 rs369085148 |
621 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs754123984 CA5294787 |
621 | P>S | No |
ClinGen ExAC gnomAD |
|
CA375306085 rs1271567352 |
622 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA375306073 rs1223442471 |
624 | K>E | No |
ClinGen gnomAD |
|
CA5294784 rs773323616 |
625 | D>N | No |
ClinGen ExAC gnomAD |
|
rs762417571 CA375306057 |
626 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294782 rs762417571 COSM1460656 |
626 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA200741173 rs953035806 |
627 | H>Y | No |
ClinGen Ensembl |
|
rs769024353 CA5294780 |
630 | D>E | No |
ClinGen ExAC gnomAD |
|
rs200325234 CA5294781 |
630 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs868392769 CA200741145 |
632 | S>L | No |
ClinGen Ensembl |
|
CA375306014 rs1479937410 |
633 | A>T | No |
ClinGen TOPMed |
|
CA5294779 rs763331030 |
633 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375306005 rs1388153533 |
635 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA375306002 rs1299590678 |
635 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs780721685 CA5294775 |
636 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5294773 rs368950632 |
637 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA200741097 rs201097012 |
638 | P>A | No |
ClinGen 1000Genomes |
|
rs1200605241 CA375305979 |
639 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs1365034327 CA375305982 |
639 | G>R | No |
ClinGen TOPMed |
|
CA375305968 rs1325710252 |
641 | D>N | No |
ClinGen TOPMed |
|
rs201807326 CA5294770 |
645 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs867940275 CA200737428 |
650 | P>L | No |
ClinGen Ensembl |
|
CA5294740 rs759759500 |
652 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294739 rs776348528 |
653 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1406924331 CA375305486 |
653 | P>R | No |
ClinGen gnomAD |
|
TCGA novel | 655 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770482705 CA5294738 |
658 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375305446 rs1564485501 |
659 | A>V | No |
ClinGen Ensembl |
|
CA375305432 rs1398777998 |
661 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5294734 rs376973789 |
662 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5294732 rs568729278 |
664 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749035368 CA5294731 |
665 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5294730 rs368125666 |
666 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758422845 CA5294727 |
669 | S>F | No |
ClinGen ExAC gnomAD |
|
CA5294726 rs758422845 |
669 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs765595015 CA5294724 |
671 | I>T | No |
ClinGen ExAC gnomAD |
|
rs375201366 CA5294725 |
671 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1588305767 CA375305328 |
672 | D>N | No |
ClinGen Ensembl |
|
CA5294721 rs371887703 |
674 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755435700 CA5294723 |
674 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1368828475 CA375305279 |
675 | E>K | No |
ClinGen gnomAD |
|
CA5294720 rs760368599 |
677 | M>I | No |
ClinGen ExAC |
|
rs199924207 CA5294719 |
678 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1434641975 CA375305219 |
679 | R>K | No |
ClinGen gnomAD |
|
rs767153483 CA5294718 COSM1106182 |
681 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs754152078 CA200737259 |
684 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA375304985 rs200827749 |
688 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1184056906 CA375304991 |
688 | D>N | No |
ClinGen gnomAD |
|
rs1237192107 CA375304978 COSM1187837 |
689 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA375304983 rs1164172369 |
689 | G>R | No |
ClinGen TOPMed |
|
CA375304972 rs1208472926 |
690 | P>L | No |
ClinGen gnomAD |
|
CA375304963 rs1239760823 |
692 | V>I | No |
ClinGen gnomAD |
|
rs1351541945 CA375304955 |
693 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1028514518 CA200735808 |
693 | R>H | No |
ClinGen Ensembl |
|
COSM752497 CA5294697 rs369218533 |
694 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA375304928 rs1432634090 |
698 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs940057478 CA200735761 |
703 | H>R | No |
ClinGen TOPMed |
|
rs1164868347 CA375304844 |
710 | K>R | No |
ClinGen gnomAD |
|
rs992772220 CA200732178 |
714 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA375304790 rs1192036288 |
716 | C>Y | No |
ClinGen gnomAD |
|
rs988737362 CA200732160 |
717 | E>K | No |
ClinGen Ensembl |
|
CA5294674 rs372510751 |
727 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1257127843 CA375304701 |
729 | P>L | No |
ClinGen gnomAD |
|
CA375304683 rs1300358842 |
732 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1588231523 CA375319984 |
743 | F>S | No |
ClinGen Ensembl |
|
CA375319976 rs1228127493 |
744 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA375319969 rs1306496768 |
745 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA375319970 rs1306496768 |
745 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1237430572 CA375319960 |
747 | A>T | No |
ClinGen gnomAD |
|
rs758043616 CA5294642 |
748 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747693845 CA5294641 |
749 | T>I | No |
ClinGen ExAC gnomAD |
|
rs778421691 CA5294640 |
750 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375319916 rs1433811488 |
753 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5294639 rs143030441 |
754 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5294637 rs766304131 |
761 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5294636 rs755922066 |
764 | R>P | No |
ClinGen ExAC |
|
CA375319846 rs1473850902 |
764 | R>W | No |
ClinGen gnomAD |
|
rs1369459647 CA375319838 |
765 | V>A | No |
ClinGen TOPMed |
|
rs1224105903 CA375319781 |
772 | V>L | No |
ClinGen gnomAD |
|
CA200787670 rs775927809 |
783 | M>I | No |
ClinGen gnomAD |
|
CA375319706 rs1196263711 |
783 | M>T | No |
ClinGen gnomAD |
|
rs752971371 CA5294613 |
785 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765550864 CA5294612 |
787 | F>L | No |
ClinGen ExAC gnomAD |
|
CA200787664 rs867363663 |
788 | R>C | No |
ClinGen Ensembl |
|
rs759745627 CA5294611 |
788 | R>H | No |
ClinGen ExAC gnomAD |
|
CA375319657 rs1478168688 |
791 | C>F | No |
ClinGen gnomAD |
|
rs766831810 CA5294609 |
792 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766831810 CA375319651 |
792 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769327719 CA200787650 |
793 | G>A | No |
ClinGen Ensembl |
|
CA5294608 rs761273448 |
793 | G>R | No |
ClinGen ExAC gnomAD |
|
rs573406136 CA200787634 |
799 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs911552282 CA200787631 |
799 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1437564472 CA375319584 |
803 | K>N | No |
ClinGen gnomAD |
|
CA375319543 rs1588220917 |
809 | V>G | No |
ClinGen Ensembl |
|
CA5294604 rs774052892 |
819 | T>P | No |
ClinGen ExAC gnomAD |
|
CA5294603 rs768277849 |
820 | S>P | No |
ClinGen ExAC gnomAD |
|
CA375319454 rs1564462107 |
822 | Q>R | No |
ClinGen Ensembl |
|
rs1379257303 CA375319448 |
823 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 825 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs748839074 CA5294602 |
825 | A>V | No |
ClinGen ExAC gnomAD |
|
COSM3942925 CA5294601 COSM3942926 rs779647493 |
827 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA5294597 rs757183979 |
828 | G>E | No |
ClinGen ExAC gnomAD |
|
rs539844465 CA5294598 CA5294600 |
828 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM3367608 CA5294599 COSM76165 rs539844465 |
828 | G>W | kidney ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 829 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1588220518 CA375319417 |
829 | V>G | No |
ClinGen Ensembl |
|
rs369423823 CA5294568 |
833 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
rs865972904 CA200786765 |
835 | T>I | No |
ClinGen Ensembl |
|
CA5294565 rs764782256 |
835 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1406763541 CA375319360 |
837 | H>Y | No |
ClinGen TOPMed |
|
CA375319354 rs1297268999 |
838 | D>N | No |
ClinGen gnomAD |
|
CA200786755 rs75325491 |
840 | H>P | No |
ClinGen ExAC gnomAD |
|
CA5294564 rs75325491 |
840 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1055367249 CA200786746 |
842 | H>Y | No |
ClinGen gnomAD |
|
CA375319306 rs1417507027 |
844 | I>T | No |
ClinGen gnomAD |
|
CA375319272 rs1264133929 |
849 | T>K | No |
ClinGen gnomAD |
|
TCGA novel | 849 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 854 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375319210 rs1484906151 |
858 | K>I | No |
ClinGen gnomAD |
|
rs773346882 CA5294540 |
861 | I>N | No |
ClinGen ExAC gnomAD |
|
rs771884949 CA5294539 |
862 | P>S | No |
ClinGen ExAC TOPMed |
|
CA375319160 rs1564459015 |
864 | V>I | No |
ClinGen Ensembl |
|
CA375319086 rs1440239207 |
874 | E>K | No |
ClinGen gnomAD |
|
rs1279830486 CA375319071 |
875 | K>N | No |
ClinGen gnomAD |
|
CA375319043 rs1256191641 |
879 | L>F | No |
ClinGen gnomAD |
|
CA5294531 rs747078700 |
880 | T>N | No |
ClinGen ExAC gnomAD |
|
CA5294532 rs747078700 |
880 | T>S | No |
ClinGen ExAC gnomAD |
|
CA375319030 rs1310819098 |
881 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 881 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5294530 rs778299269 |
883 | T>M | No |
ClinGen ExAC gnomAD |
|
COSM1460650 CA5294503 rs779896256 |
894 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA200783889 CA200783914 rs376105574 |
896 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376105574 CA5294502 |
896 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1220607875 CA375318901 |
898 | M>L | No |
ClinGen TOPMed |
|
CA375318881 rs1194000623 |
900 | Q>H | No |
ClinGen gnomAD |
|
CA5294498 rs751517782 |
908 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs761320676 CA5294499 |
908 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs764080164 CA5294497 |
910 | L>V | No |
ClinGen ExAC gnomAD |
|
CA375318789 rs1280311083 |
914 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA375318779 rs1228470480 |
915 | K>R | No |
ClinGen gnomAD |
|
rs762787224 CA5294496 |
916 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 917 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs775232200 CA5294495 |
917 | M>R | No |
ClinGen ExAC gnomAD |
|
CA375318738 rs1588164925 |
919 | H>P | No |
ClinGen Ensembl |
|
rs776078057 CA5294467 |
920 | L>S | No |
ClinGen ExAC gnomAD |
|
rs767298603 CA200783663 |
921 | R>Q | No |
ClinGen Ensembl |
|
rs770350719 CA5294466 |
924 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1588164788 CA375318684 |
927 | N>T | No |
ClinGen Ensembl |
|
CA5294465 rs746232087 |
929 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA375318636 rs1335727242 |
934 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs756905802 CA5294463 |
936 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1171186761 CA375318613 |
938 | S>L | No |
ClinGen gnomAD |
|
rs1178338998 CA375318599 |
940 | P>L | No |
ClinGen gnomAD |
|
CA5294459 rs752635664 |
942 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765150170 CA5294458 |
945 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374657058 CA200783621 |
946 | W>R | No |
ClinGen ESP |
|
CA5294457 rs754822064 |
950 | T>I | No |
ClinGen ExAC gnomAD |
|
CA5294421 rs200617402 |
953 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1420564646 CA375318496 |
954 | L>P | No |
ClinGen gnomAD |
|
CA375318488 rs1266562115 COSM1460649 |
956 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA375318477 rs1254793885 |
957 | Y>C | No |
ClinGen gnomAD |
|
CA375318459 rs1428994765 |
959 | T>R | No |
ClinGen TOPMed |
|
rs1294484367 CA375318444 |
962 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA375318417 rs1588152245 |
966 | S>P | No |
ClinGen Ensembl |
|
CA375318408 rs1588152213 |
967 | F>S | No |
ClinGen Ensembl |
|
rs778182003 CA5294412 |
968 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1588152185 CA375318390 |
970 | Y>S | No |
ClinGen Ensembl |
|
CA5294409 rs553644640 |
973 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5294408 rs553644640 |
973 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA375318363 rs1408231290 |
975 | S>A | No |
ClinGen gnomAD |
|
CA5294406 rs766783431 |
975 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375318354 rs1190503702 |
976 | E>D | No |
ClinGen TOPMed |
|
rs370258316 CA5294404 |
979 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 980 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375318315 rs1480857489 |
982 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1588151866 CA375318303 |
984 | Y>S | No |
ClinGen Ensembl |
|
rs774743047 CA200781129 |
994 | F>S | No |
ClinGen Ensembl |
|
CA375318222 rs1290515064 |
995 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 996 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs375961565 CA5294373 |
1000 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375961565 CA375318191 |
1000 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA200781114 rs769869009 |
1002 | Y>C | No |
ClinGen Ensembl |
|
CA5294372 rs749485743 |
1003 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294371 rs552540191 |
1004 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs372628000 CA5294369 |
1005 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375318133 rs141308173 |
1008 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
VAR_069375 | 1012 | R>Q | found in a patient with intellectual disability, frontal epilepsy and mild facial dysmorphism [UniProt] | No | UniProt |
rs1263228763 CA375318108 |
1012 | R>W | No |
ClinGen gnomAD |
|
CA200781082 rs1049121740 |
1017 | N>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1020 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs775152902 CA5294363 |
1023 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs764842655 CA375317986 |
1028 | A>E | No |
ClinGen ExAC gnomAD |
|
rs764842655 CA5294362 |
1028 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375317954 rs1280452509 |
1031 | D>N | No |
ClinGen TOPMed |
|
CA375317942 rs1352304047 |
1032 | M>I | No |
ClinGen TOPMed |
|
CA375317945 rs1403459276 |
1032 | M>L | No |
ClinGen gnomAD |
|
CA5294345 rs758725232 |
1032 | M>T | No |
ClinGen ExAC gnomAD |
|
CA200780611 rs752356616 |
1033 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5294343 rs150811948 |
1033 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5294344 rs752356616 |
1033 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs753363267 CA5294341 |
1036 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs773142962 CA5294338 |
1040 | N>S | No |
ClinGen ExAC gnomAD |
|
rs771831646 CA5294337 |
1042 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375317868 rs1275318770 |
1043 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA375317846 rs1196633707 |
1046 | S>G | No |
ClinGen gnomAD |
|
CA375317801 rs1194753581 |
1052 | E>A | No |
ClinGen TOPMed |
|
rs1045465010 CA200780574 |
1056 | E>K | No |
ClinGen Ensembl |
|
TCGA novel | 1057 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5294334 rs769972842 |
1064 | R>K | No |
ClinGen ExAC gnomAD |
|
CA200780522 rs912981556 |
1066 | I>K | No |
ClinGen Ensembl |
|
CA375317710 rs1433995285 |
1066 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs781276426 CA5294331 |
1071 | T>K | No |
ClinGen ExAC |
|
CA5294330 rs770943992 |
1072 | D>E | No |
ClinGen ExAC gnomAD |
|
COSM1460647 rs34330901 CA5294328 |
1073 | R>Q | large_intestine Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1460648 rs747478083 CA5294329 |
1073 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs753080477 CA5294326 |
1075 | E>G | No |
ClinGen ExAC gnomAD |
|
CA375317639 rs1172528247 |
1076 | K>N | No |
ClinGen gnomAD |
|
CA200780467 rs894426015 |
1078 | T>Q | No |
ClinGen TOPMed |
No associated diseases with Q13905
3 regional properties for Q13905
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Zinc finger C2H2-type | 175 - 202 | IPR013087-1 |
domain | Zinc finger C2H2-type | 203 - 230 | IPR013087-2 |
domain | Zinc finger C2H2-type | 231 - 258 | IPR013087-3 |
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. |
early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
Name | Definition |
---|---|
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
12 GO annotations of biological process
Name | Definition |
---|---|
cellular response to cAMP | 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 cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
cellular response to nerve growth factor stimulus | A 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 nerve growth factor stimulus. |
establishment of endothelial barrier | The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition. |
nerve growth factor signaling pathway | The series of molecular signals initiated by nerve growth factor (NGF) binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
Rap protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rap family of proteins switching to a GTP-bound active state. |
Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
regulation of cell junction assembly | Any process that modulates the frequency, rate or extent of cell junction assembly. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
30 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A6N9I4 | RASGRP2 | RAS guanyl-releasing protein 2 | Bos taurus (Bovine) | SS |
Q1LZ97 | RASGRP4 | RAS guanyl-releasing protein 4 | Bos taurus (Bovine) | SS |
A0A3S5ZPR1 | RASGRP3 | RAS guanyl releasing protein 3 | Gallus gallus (Chicken) | SS |
P26675 | Sos | Protein son of sevenless | Drosophila melanogaster (Fruit fly) | SS |
Q07890 | SOS2 | Son of sevenless homolog 2 | Homo sapiens (Human) | SS |
Q07889 | SOS1 | Son of sevenless homolog 1 | Homo sapiens (Human) | EV |
O95398 | RAPGEF3 | Rap guanine nucleotide exchange factor 3 | Homo sapiens (Human) | EV |
Q8WZA2 | RAPGEF4 | Rap guanine nucleotide exchange factor 4 | Homo sapiens (Human) | SS |
Q8N431 | RASGEF1C | Ras-GEF domain-containing family member 1C | Homo sapiens (Human) | PR |
Q8N9B8 | RASGEF1A | Ras-GEF domain-containing family member 1A | Homo sapiens (Human) | PR |
Q8IZJ4 | RGL4 | Ral-GDS-related protein | Homo sapiens (Human) | PR |
Q12967 | RALGDS | Ral guanine nucleotide dissociation stimulator | Homo sapiens (Human) | PR |
O95267 | RASGRP1 | RAS guanyl-releasing protein 1 | Homo sapiens (Human) | EV |
Q8TDF6 | RASGRP4 | RAS guanyl-releasing protein 4 | Homo sapiens (Human) | SS |
Q7LDG7 | RASGRP2 | RAS guanyl-releasing protein 2 | Homo sapiens (Human) | EV SS |
Q8IV61 | RASGRP3 | Ras guanyl-releasing protein 3 | Homo sapiens (Human) | SS |
Q86X27 | RALGPS2 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | Homo sapiens (Human) | PR |
Q5JS13 | RALGPS1 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | Homo sapiens (Human) | PR |
A2AR50 | Ralgps1 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | Mus musculus (Mouse) | PR |
Q8BTM9 | Rasgrp4 | RAS guanyl-releasing protein 4 | Mus musculus (Mouse) | SS |
Q9Z1S3 | Rasgrp1 | RAS guanyl-releasing protein 1 | Mus musculus (Mouse) | SS |
Q9QUG9 | Rasgrp2 | RAS guanyl-releasing protein 2 | Mus musculus (Mouse) | SS |
Q9ERD6 | Ralgps2 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | Mus musculus (Mouse) | PR |
Q02384 | Sos2 | Son of sevenless homolog 2 | Mus musculus (Mouse) | SS |
Q62245 | Sos1 | Son of sevenless homolog 1 | Mus musculus (Mouse) | SS |
Q9R1K8 | Rasgrp1 | RAS guanyl-releasing protein 1 | Rattus norvegicus (Rat) | SS |
P0C643 | Rasgrp2 | RAS guanyl-releasing protein 2 | Rattus norvegicus (Rat) | SS |
Q8R5I4 | Rasgrp4 | RAS guanyl-releasing protein 4 | Rattus norvegicus (Rat) | SS |
Q9N5D3 | sos-1 | Son of sevenless homolog | Caenorhabditis elegans | EV |
A4IJ06 | rasgrp1 | RAS guanyl-releasing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MDTDSQRSHL | SSFTMKLMDK | FHSPKIKRTP | SKKGKPAEVS | VKIPEKPVNK | EATDRFLPEG |
70 | 80 | 90 | 100 | 110 | 120 |
YPLPLDLEQQ | AVEFMSTSAV | ASRSQRQKNL | SWLEEKEKEV | VSALRYFKTI | VDKMAIDKKV |
130 | 140 | 150 | 160 | 170 | 180 |
LEMLPGSASK | VLEAILPLVQ | NDPRIQHSSA | LSSCYSRVYQ | SLANLIRWSD | QVMLEGVNSE |
190 | 200 | 210 | 220 | 230 | 240 |
DKEMVTTVKG | VIKAVLDGVK | ELVRLTIEKQ | GRPSPTSPVK | PSSPASKPDG | PAELPLTDRE |
250 | 260 | 270 | 280 | 290 | 300 |
VEILNKTTGM | SQSTELLPDA | TDEEVAPPKP | PLPGIRVVDN | SPPPALPPKK | RQSAPSPTRV |
310 | 320 | 330 | 340 | 350 | 360 |
AVVAPMSRAT | SGSSLPVGIN | RQDFDVDCYA | QRRLSGGSHS | YGGESPRLSP | CSSIGKLSKS |
370 | 380 | 390 | 400 | 410 | 420 |
DEQLSSLDRD | SGQCSRNTSC | ETLDHYDPDY | EFLQQDLSNA | DQIPQQTAWN | LSPLPESLGE |
430 | 440 | 450 | 460 | 470 | 480 |
SGSPFLGPPF | QLPLGGHPQP | DGPLAPGQQT | DTPPALPEKK | RRSAASQTAD | GSGCRVSYER |
490 | 500 | 510 | 520 | 530 | 540 |
HPSQYDNISG | EDLQSTAPIP | SVPYAPFAAI | LPFQHGGSSA | PVEFVGDFTA | PESTGDPEKP |
550 | 560 | 570 | 580 | 590 | 600 |
PPLPEKKNKH | MLAYMQLLED | YSEPQPSMFY | QTPQNEHIYQ | QKNKLLMEVY | GFSDSFSGVD |
610 | 620 | 630 | 640 | 650 | 660 |
SVQELAPPPA | LPPKQRQLEP | PAGKDGHPRD | PSAVSGVPGK | DSRDGSERAP | KSPDALESAQ |
670 | 680 | 690 | 700 | 710 | 720 |
SEEEVDELSL | IDHNEIMSRL | TLKQEGDDGP | DVRGGSGDIL | LVHATETDRK | DLVLYCEAFL |
730 | 740 | 750 | 760 | 770 | 780 |
TTYRTFISPE | ELIKKLQYRY | EKFSPFADTF | KKRVSKNTFF | VLVRVVDELC | LVELTEEILK |
790 | 800 | 810 | 820 | 830 | 840 |
LLMELVFRLV | CNGELSLARV | LRKNILDKVD | QKKLLRCATS | SQPLAARGVA | ARPGTLHDFH |
850 | 860 | 870 | 880 | 890 | 900 |
SHEIAEQLTL | LDAELFYKIE | IPEVLLWAKE | QNEEKSPNLT | QFTEHFNNMS | YWVRSIIMLQ |
910 | 920 | 930 | 940 | 950 | 960 |
EKAQDRERLL | LKFIKIMKHL | RKLNNFNSYL | AILSALDSAP | IRRLEWQKQT | SEGLAEYCTL |
970 | 980 | 990 | 1000 | 1010 | 1020 |
IDSSSSFRAY | RAALSEVEPP | CIPYLGLILQ | DLTFVHLGNP | DYIDGKVNFS | KRWQQFNILD |
1030 | 1040 | 1050 | 1060 | 1070 | |
SMRCFQQAHY | DMRRNDDIIN | FFNDFSDHLA | EEALWELSLK | IKPRNITRRK | TDREEKT |