Q86YS7
PR
Gene name |
C2CD5 (CDP138, KIAA0528) |
Protein name |
C2 domain-containing protein 5 |
Names |
C2 domain-containing phosphoprotein of 138 kDa |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9847 |
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
1 structures for Q86YS7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86YS7-F1 | Predicted | AlphaFoldDB |
649 variants for Q86YS7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1592072119 CA384312169 |
7 | V>G | No |
ClinGen Ensembl |
|
|
CA6483456 rs755829139 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA384312141 rs1208349832 |
11 | A>V | No |
ClinGen gnomAD |
|
|
rs945922720 CA234153678 |
13 | R>C | No |
ClinGen TOPMed |
|
|
CA6483455 rs750238735 |
13 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1237085187 CA384312129 |
14 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA234153677 rs913972054 |
21 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757177267 CA6483453 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1592071981 CA384312069 |
22 | S>R | No |
ClinGen Ensembl |
|
|
rs1278557185 CA384312063 |
23 | D>V | No |
ClinGen TOPMed |
|
|
rs762469412 CA6483450 |
29 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384311578 rs1254391916 |
37 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 39 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 40 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483426 rs762292237 |
41 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs762341741 CA234152686 |
45 | K>* | No |
ClinGen TOPMed |
|
|
rs1158283790 CA384311485 |
46 | S>L | No |
ClinGen gnomAD |
|
|
rs1459558698 CA384311423 |
51 | W>* | No |
ClinGen TOPMed |
|
|
CA384311417 rs1166791474 |
51 | W>* | No |
ClinGen TOPMed |
|
|
CA234152685 COSM938083 rs370000915 |
53 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs369905292 CA6483421 |
55 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483394 rs748095844 |
61 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384134440 CA384310277 |
68 | E>K | No |
ClinGen gnomAD |
|
|
rs1373664288 CA384310244 |
70 | L>S | No |
ClinGen gnomAD |
|
|
CA384310238 rs1435464018 |
71 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483389 rs755817578 |
75 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6483386 rs764492011 |
86 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758707441 CA6483385 |
87 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA384310064 rs1272371003 |
91 | I>V | No |
ClinGen gnomAD |
|
|
rs570209510 CA6483384 |
98 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577005043 CA6483382 |
99 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA384310009 rs1353766765 |
99 | S>N | No |
ClinGen gnomAD |
|
|
CA6483381 rs371558934 |
103 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384309982 rs1321715304 |
103 | T>I | No |
ClinGen gnomAD |
|
|
CA6483380 rs766511316 |
107 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409927609 CA384309937 |
110 | P>T | No |
ClinGen gnomAD |
|
|
rs935802548 CA234151798 |
111 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460243396 CA384309894 |
116 | H>R | No |
ClinGen gnomAD |
|
|
CA6483377 rs773471299 |
116 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6483349 rs762956631 COSM1705329 |
119 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775622262 CA384309568 |
119 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6483348 rs775622262 |
119 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323778012 CA384309554 |
120 | G>E | No |
ClinGen TOPMed |
|
|
CA384309487 rs548649904 |
123 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439343150 CA384309467 |
124 | V>A | No |
ClinGen gnomAD |
|
|
CA384309442 rs1466236794 |
125 | V>A | No |
ClinGen gnomAD |
|
|
rs1591988229 CA384309461 |
125 | V>I | No |
ClinGen Ensembl |
|
|
CA6483345 rs780836198 |
127 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1339767569 CA384309364 |
129 | D>G | No |
ClinGen TOPMed |
|
|
CA384309325 rs1443629834 |
132 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6483344 rs770474476 |
132 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA384309293 rs1400730331 |
134 | L>* | No |
ClinGen gnomAD |
|
|
rs962490949 CA234151575 |
136 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs139822705 CA384309267 |
136 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139822705 CA6483343 |
136 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs779114966 CA6483342 |
137 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754294232 CA6483340 |
143 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1459649214 CA384309158 |
145 | K>R | No |
ClinGen gnomAD |
|
|
CA384309102 rs1183723416 |
149 | T>A | No |
ClinGen TOPMed |
|
|
rs146314848 CA6483325 |
150 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA234151473 rs749683724 |
151 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483323 rs749683724 |
151 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384309068 rs1298714801 |
152 | I>N | No |
ClinGen gnomAD |
|
|
rs902368893 CA234151472 |
152 | I>V | No |
ClinGen TOPMed |
|
|
CA6483321 rs756589330 |
153 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA384309065 rs756589330 |
153 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746424562 CA6483320 |
154 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA384309051 rs1404118621 |
155 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA234151470 rs142469361 |
156 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA234151471 rs910603357 |
156 | Y>N | No |
ClinGen TOPMed |
|
|
CA384309036 rs1215572998 |
157 | R>S | No |
ClinGen gnomAD |
|
|
CA6483319 rs781125704 |
157 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA384309020 rs1341957516 |
160 | I>L | No |
ClinGen gnomAD |
|
|
rs780916334 CA6483318 |
160 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs527555941 CA6483316 |
165 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384308948 rs1170849231 |
171 | N>D | No |
ClinGen gnomAD |
|
|
CA6483313 rs757050003 |
171 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776690766 CA6483311 |
174 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384308885 rs1591983223 |
179 | I>F | No |
ClinGen Ensembl |
|
|
rs760237312 CA6483309 |
181 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1360750 rs1358127069 CA384308859 |
183 | R>C | large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA384308836 rs1194022749 |
187 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 190 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384308786 rs1270816438 |
194 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA384308787 rs1270816438 |
194 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA384308781 rs1422888778 |
194 | R>S | No |
ClinGen TOPMed |
|
|
CA234151466 rs928056085 |
195 | L>V | No |
ClinGen Ensembl |
|
|
CA6483303 rs775798785 |
197 | S>L | No |
ClinGen ExAC |
|
|
CA234151465 rs866645462 |
198 | L>* | No |
ClinGen Ensembl |
|
|
rs377374016 CA234151387 |
207 | I>L | No |
ClinGen ESP |
|
|
rs766371290 CA6483286 |
209 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384308237 rs1307162498 |
209 | L>M | No |
ClinGen TOPMed |
|
|
CA384308198 rs1591978717 |
211 | V>G | No |
ClinGen Ensembl |
|
|
rs373330293 CA234151385 |
212 | L>F | No |
ClinGen ESP |
|
|
CA384308166 rs1295569902 |
214 | M>V | No |
ClinGen gnomAD |
|
|
rs1591978675 CA384308124 |
217 | N>D | No |
ClinGen Ensembl |
|
|
rs749911979 CA6483284 |
219 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384308096 rs1436927545 |
221 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384308089 rs1591978582 |
222 | Y>D | No |
ClinGen Ensembl |
|
|
rs767052875 CA6483283 |
224 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 227 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176299695 CA384308018 |
232 | S>P | No |
ClinGen TOPMed |
|
|
rs747562351 CA6483276 |
235 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs772337815 CA6483273 |
236 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA234151384 rs929281327 |
236 | V>L | No |
ClinGen Ensembl |
|
|
rs201859658 CA6483271 |
237 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201859658 CA6483270 |
237 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753689647 CA6483269 |
239 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483268 rs779762301 |
241 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA234151382 rs368027879 |
242 | A>T | No |
ClinGen TOPMed |
|
|
rs1384283126 CA384307960 |
242 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6483265 rs766997886 |
243 | C>G | No |
ClinGen ExAC |
|
|
rs1421631234 CA384307956 |
243 | C>S | No |
ClinGen gnomAD |
|
|
CA6483262 rs763834594 |
249 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762565989 CA6483261 |
250 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483260 rs777026684 |
250 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA384307900 rs1427537437 |
251 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1591977866 CA384307896 |
252 | A>E | No |
ClinGen Ensembl |
|
|
CA6483259 rs566985092 |
252 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA234151381 rs773882467 |
255 | L>F | No |
ClinGen gnomAD |
|
|
CA6483255 rs748271464 |
258 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1336939898 CA384307855 |
259 | N>H | No |
ClinGen TOPMed |
|
|
rs774387876 CA6483254 |
259 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381001144 CA384307830 |
263 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1279150830 CA384307827 |
263 | K>R | No |
ClinGen gnomAD |
|
|
rs547569146 CA6483250 COSM468155 |
265 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs779892955 CA6483251 |
265 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384306978 rs1565777352 |
270 | F>Y | No |
ClinGen Ensembl |
|
|
rs201438897 CA6483230 |
271 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1438206804 CA384306918 |
274 | P>A | No |
ClinGen gnomAD |
|
|
rs1470400741 CA384306913 |
274 | P>L | No |
ClinGen TOPMed |
|
|
CA384306901 rs1343124326 |
275 | N>S | No |
ClinGen gnomAD |
|
|
CA384306893 rs1338908094 |
276 | P>T | No |
ClinGen TOPMed |
|
|
rs777327106 CA6483227 |
277 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA234150842 rs898342168 |
277 | N>K | No |
ClinGen TOPMed |
|
|
CA6483226 rs540800724 |
277 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372679350 CA384306853 |
279 | H>D | No |
ClinGen ESP gnomAD |
|
|
rs372679350 CA384306855 |
279 | H>N | No |
ClinGen ESP gnomAD |
|
|
CA234150841 rs372679350 |
279 | H>Y | No |
ClinGen ESP gnomAD |
|
|
CA6483224 rs572119119 |
281 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA234150840 rs1039472735 |
282 | G>R | No |
ClinGen TOPMed |
|
|
CA234150839 COSM1492825 rs942658053 |
286 | P>L | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1240618327 CA384306648 |
291 | T>I | No |
ClinGen gnomAD |
|
|
CA384306614 rs1288707069 |
293 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6483218 rs762404937 |
295 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1240901031 CA384306554 |
296 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 297 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483216 rs764174998 |
298 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs764174998 CA6483217 |
298 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483215 rs762943890 |
300 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384306496 rs1193068031 |
300 | Y>H | No |
ClinGen Ensembl |
|
|
CA234150838 rs199497701 |
301 | S>I | No |
ClinGen Ensembl |
|
|
CA6483214 rs146325125 |
302 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770021740 CA6483213 |
302 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483211 rs776409847 |
303 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6483212 rs551530202 |
303 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483210 rs555652229 |
304 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384306416 rs1341844559 |
304 | S>P | No |
ClinGen gnomAD |
|
|
CA6483209 rs746910699 |
306 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1265830175 CA384306337 |
309 | T>K | No |
ClinGen TOPMed |
|
|
rs1408064524 CA384306314 |
310 | D>E | No |
ClinGen gnomAD |
|
|
rs968170752 CA234150837 |
310 | D>Y | No |
ClinGen TOPMed |
|
|
rs1243209061 CA384306301 |
311 | L>W | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234150836 rs935365007 |
315 | P>S | No |
ClinGen TOPMed |
|
|
rs1170252501 CA384306211 |
316 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243413333 CA384305915 |
319 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483188 rs150570858 |
323 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6483185 rs142327845 |
328 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147669786 CA6483183 |
328 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6483184 rs142327845 |
328 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs754603484 | 330 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402713950 CA384305706 |
334 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384305693 rs1248978415 |
335 | L>* | No |
ClinGen gnomAD |
|
|
rs544892132 CA234150362 |
338 | Q>* | No |
ClinGen TOPMed |
|
|
rs758797083 CA6483177 |
341 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA384305599 rs759619413 |
342 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765247917 CA6483175 |
342 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483174 rs759619413 |
342 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173297654 CA384305581 |
344 | E>K | No |
ClinGen TOPMed |
|
|
rs776354756 CA6483138 |
349 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA384305082 rs188838684 |
354 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6483135 rs188838684 |
354 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6483134 rs779301015 |
355 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384305062 rs1248171840 |
357 | P>L | No |
ClinGen gnomAD |
|
|
CA6483133 rs200931407 |
358 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384305040 rs1259020408 |
361 | L>F | No |
ClinGen gnomAD |
|
|
CA6483130 rs779983365 |
363 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384305022 rs151297499 |
364 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6483128 rs151297499 |
364 | V>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767810284 CA6483126 |
365 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs757065645 CA6483125 |
366 | G>D | No |
ClinGen ExAC |
|
|
rs1363031431 CA384305008 |
367 | V>I | No |
ClinGen gnomAD |
|
|
CA6483123 rs764016995 |
369 | S>G | No |
ClinGen ExAC |
|
|
CA234149598 rs953055275 |
369 | S>I | No |
ClinGen Ensembl |
|
|
COSM938073 CA6483122 rs762976489 |
370 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6483121 rs752696571 |
370 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6483120 rs757840238 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483119 rs142421095 |
371 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384304981 rs1473722312 |
372 | S>T | No |
ClinGen gnomAD |
|
|
CA6483118 rs776102266 |
373 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1177770519 CA384304940 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1404837859 CA384304939 COSM938071 |
378 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6483102 rs752538749 |
388 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA384314356 rs1442219845 |
388 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 398 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759444941 CA6483099 |
402 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA384314254 rs1218782442 COSM1729733 |
402 | H>Y | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs990550892 CA234148201 |
405 | A>T | No |
ClinGen Ensembl |
|
|
CA6483098 rs559831404 |
409 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765942174 CA6483097 |
410 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs994403738 CA234148200 |
415 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA384314149 rs1360435594 |
418 | T>A | No |
ClinGen TOPMed |
|
|
CA384314143 rs1478222060 |
419 | S>G | No |
ClinGen gnomAD |
|
|
CA384314136 rs1422197033 |
420 | I>V | No |
ClinGen gnomAD |
|
|
CA6483076 rs776040210 |
430 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234147863 rs776040210 |
430 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483075 rs761420979 |
433 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234147861 rs1049892666 |
435 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384313911 rs1237618592 |
436 | L>R | No |
ClinGen gnomAD |
|
|
rs1591819138 CA384313902 |
437 | N>T | No |
ClinGen Ensembl |
|
|
rs765582861 CA6483073 |
438 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384313851 rs1233747946 |
440 | F>L | No |
ClinGen TOPMed |
|
|
rs1431003346 CA384313836 |
442 | Q>* | No |
ClinGen gnomAD |
|
|
CA6483070 rs747110634 |
443 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747110634 CA6483069 |
443 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457522455 CA384313796 |
444 | G>V | No |
ClinGen gnomAD |
|
|
rs564104874 CA234147859 |
445 | T>I | No |
ClinGen gnomAD |
|
|
CA6483067 rs184922333 |
446 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384313766 rs1159675292 |
447 | E>* | No |
ClinGen gnomAD |
|
|
CA384313752 rs1420468009 |
448 | G>S | No |
ClinGen gnomAD |
|
|
rs778755974 CA6483065 |
449 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 451 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483051 rs77626615 |
455 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs773422446 CA384313061 |
457 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384313054 rs772101667 |
458 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384313048 rs1232842523 |
459 | P>L | No |
ClinGen gnomAD |
|
|
rs981765265 CA234147231 |
459 | P>S | No |
ClinGen gnomAD |
|
|
CA384313047 rs1324604929 |
460 | T>A | No |
ClinGen gnomAD |
|
|
CA384313041 rs748345869 |
461 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371918229 COSM1255587 CA6483047 |
461 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371918229 CA384313038 |
461 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748345869 CA6483048 |
461 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237812888 CA384313026 |
463 | G>E | No |
ClinGen TOPMed |
|
|
rs749101595 CA6483045 |
467 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384312999 rs1384207779 |
467 | I>V | No |
ClinGen gnomAD |
|
|
CA6483043 rs756013011 |
473 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384312941 rs1167902446 |
475 | P>A | No |
ClinGen gnomAD |
|
|
CA6483042 rs745869355 |
476 | F>L | No |
ClinGen ExAC |
|
|
rs780736014 CA6483041 |
476 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA234147229 rs946081949 |
479 | H>R | No |
ClinGen TOPMed |
|
|
rs751153420 CA6483040 |
480 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751153420 CA6483039 |
480 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758121336 CA6483037 |
481 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA234147227 rs963418176 |
483 | C>Y | No |
ClinGen Ensembl |
|
|
CA6483036 rs202060314 |
484 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 487 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 489 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6483034 rs761251947 |
489 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317377662 CA384312841 |
490 | K>E | No |
ClinGen gnomAD |
|
|
TCGA novel rs750981036 CA6483033 |
490 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA384312827 rs1230288897 |
492 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1565702848 CA384312823 |
493 | D>N | No |
ClinGen Ensembl |
|
|
rs1339276127 CA384312815 |
494 | V>I | No |
ClinGen gnomAD |
|
|
CA384312809 rs1453911345 |
495 | L>M | No |
ClinGen gnomAD |
|
|
CA6483032 rs767569115 |
497 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA384312785 rs1007799490 |
499 | I>L | No |
ClinGen gnomAD |
|
|
CA234147226 rs1007799490 |
499 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1285300953 CA384312778 |
500 | D>H | No |
ClinGen TOPMed |
|
|
CA6483030 rs774582354 |
501 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1359005421 CA384312762 |
502 | P>R | No |
ClinGen TOPMed |
|
|
rs62000366 CA6483029 |
503 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs62000366 CA384312759 |
503 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384312751 rs1456305149 |
504 | D>G | No |
ClinGen gnomAD |
|
|
rs763201135 CA6483028 |
505 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 505 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446236192 CA384312737 |
506 | T>I | No |
ClinGen gnomAD |
|
|
rs1458413721 CA384312726 |
508 | I>T | No |
ClinGen TOPMed |
|
|
CA6483026 rs769630461 |
509 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs148790751 CA6483025 |
512 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6483024 rs780993048 |
513 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 516 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771722259 CA6483003 |
518 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs544893849 CA234147032 |
519 | C>R | No |
ClinGen Ensembl |
|
|
CA6483002 rs747737504 |
520 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471759162 CA384312637 |
520 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 523 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384312603 rs1297350412 |
525 | A>T | No |
ClinGen gnomAD |
|
|
rs778740215 CA6483001 |
526 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6482999 rs370888151 |
527 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781649340 CA6482998 |
530 | N>D | No |
ClinGen ExAC |
|
| TCGA novel | 531 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384312561 rs1428655930 |
531 | A>G | No |
ClinGen gnomAD |
|
|
CA6482997 rs757699822 |
532 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384312542 rs1345112687 |
534 | I>M | No |
ClinGen Ensembl |
|
|
rs546557072 CA6482996 |
534 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232707374 CA384312489 |
541 | M>I | No |
ClinGen TOPMed |
|
|
rs1364945374 CA384312490 |
541 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 542 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6482995 rs764099766 |
543 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA384312471 rs1215451253 |
544 | E>K | No |
ClinGen gnomAD |
|
|
CA384312432 rs1285870659 |
549 | L>P | No |
ClinGen gnomAD |
|
|
rs1322459105 CA384312409 |
552 | K>R | No |
ClinGen gnomAD |
|
|
rs752874603 CA6482993 |
553 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482992 rs368787309 |
554 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384312377 rs1265212862 |
557 | G>E | No |
ClinGen gnomAD |
|
|
CA384312379 rs1277493062 |
557 | G>R | No |
ClinGen gnomAD |
|
|
rs1236979509 CA384312364 |
559 | N>D | No |
ClinGen TOPMed |
|
|
CA6482991 rs759797323 |
560 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446633779 CA384312352 |
561 | L>M | No |
ClinGen TOPMed |
|
|
CA384312328 rs1332000546 |
564 | L>P | No |
ClinGen gnomAD |
|
|
CA384312313 rs1591788692 |
566 | I>M | No |
ClinGen Ensembl |
|
|
CA384312298 rs1177221056 |
568 | I>M | No |
ClinGen gnomAD |
|
|
CA384312300 rs1405708518 |
568 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 570 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384312269 rs1481469954 |
573 | N>Y | No |
ClinGen gnomAD |
|
|
CA384312262 rs1192883329 |
574 | M>V | No |
ClinGen TOPMed |
|
|
CA384312251 rs1422029588 |
575 | L>S | No |
ClinGen gnomAD |
|
|
CA384312240 rs1475919809 |
576 | M>I | No |
ClinGen gnomAD |
|
|
CA6482989 rs766258969 |
576 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384312236 rs1244174853 |
577 | G>D | No |
ClinGen gnomAD |
|
| rs760473058 | 579 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208517545 CA384312221 |
579 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6482973 rs752745744 |
583 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6482972 rs561325440 |
584 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1330855344 CA384311968 |
585 | Y>* | No |
ClinGen gnomAD |
|
|
CA384311958 rs1287655551 |
587 | A>T | No |
ClinGen gnomAD |
|
|
CA6482971 rs117665966 |
588 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1222389560 CA384311945 |
589 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1359932936 CA384311942 |
590 | P>T | No |
ClinGen gnomAD |
|
|
rs754108655 CA6482970 |
591 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200461707 CA234146538 |
591 | T>N | No |
ClinGen Ensembl |
|
|
rs529039781 CA234146537 |
592 | P>S | No |
ClinGen Ensembl |
|
|
rs1371504360 CA384311923 |
593 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 597 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6482968 rs144528074 |
598 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1163329829 CA384311885 |
599 | G>V | No |
ClinGen gnomAD |
|
|
rs1330978882 CA384311873 |
601 | T>A | No |
ClinGen gnomAD |
|
|
rs1165906991 CA384311841 |
605 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs899073255 CA234146535 |
606 | S>L | No |
ClinGen gnomAD |
|
|
rs1237324407 CA384311831 |
607 | Y>C | No |
ClinGen TOPMed |
|
|
rs139792952 CA6482966 |
609 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384311810 rs1244874524 |
610 | H>Y | No |
ClinGen gnomAD |
|
|
rs1221690437 CA384311801 |
611 | I>N | No |
ClinGen gnomAD |
|
|
CA234146534 rs1007548243 |
611 | I>V | No |
ClinGen Ensembl |
|
|
rs1351635983 CA384311754 |
617 | K>M | No |
ClinGen TOPMed |
|
|
rs1490508298 CA384311751 |
618 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1490508298 CA384311750 |
618 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 620 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039822542 CA234146533 |
622 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1293636605 CA384311722 |
622 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 624 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889234307 CA234146532 |
625 | N>S | No |
ClinGen gnomAD |
|
|
CA6482963 rs768339552 |
626 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA384311684 rs1269358995 |
627 | E>G | No |
ClinGen TOPMed |
|
|
rs1375646241 CA384311680 |
628 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775209789 CA6482961 |
629 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904525560 CA234146531 |
629 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1161295763 CA384311667 |
630 | E>K | No |
ClinGen TOPMed |
|
|
CA6482960 rs771157293 |
632 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6482959 rs150841468 |
632 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6482958 rs150841468 |
632 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384311651 rs771157293 |
632 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6482957 rs772566237 |
633 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482956 rs748716039 |
634 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591996868 CA384311503 |
637 | S>P | No |
ClinGen Ensembl |
|
|
rs762844060 CA6482925 |
638 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs752250573 CA6482924 |
640 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234146145 rs1042725373 |
640 | I>V | No |
ClinGen Ensembl |
|
|
rs534276705 CA6482923 |
642 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384311418 rs1183241564 |
643 | S>L | No |
ClinGen gnomAD |
|
|
rs759132720 CA6482922 |
643 | S>P | No |
ClinGen ExAC |
|
|
rs1245016203 CA384311389 |
646 | P>S | No |
ClinGen gnomAD |
|
|
rs1202439363 CA384311359 |
648 | P>R | No |
ClinGen gnomAD |
|
|
rs948497515 CA234146144 |
648 | P>S | No |
ClinGen Ensembl |
|
|
rs1252421654 CA384311340 |
650 | Q>* | No |
ClinGen gnomAD |
|
|
CA6482919 rs186776399 |
651 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558753383 CA6482918 |
651 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1357781794 CA384311315 |
652 | S>P | No |
ClinGen gnomAD |
|
|
rs139116212 CA6482915 |
662 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566820306 CA234146142 |
665 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA384311200 rs1418462071 |
666 | T>R | No |
ClinGen TOPMed |
|
|
rs746016200 CA6482913 |
668 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384311179 rs1159480536 |
669 | D>E | No |
ClinGen TOPMed |
|
|
CA6482912 rs781595649 |
669 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA384311177 rs952598846 |
670 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA234146140 rs952598846 |
670 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6482911 rs757067748 |
672 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394810757 CA384311155 |
673 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 676 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390196042 CA384311079 |
682 | I>V | No |
ClinGen TOPMed |
|
|
CA384311052 rs1455966717 |
685 | T>I | No |
ClinGen TOPMed |
|
|
rs753318683 CA6482883 |
687 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6482882 rs765943861 |
688 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765943861 CA384311037 |
688 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755748519 CA6482881 |
689 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384311030 rs755748519 |
689 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240687014 CA384310998 |
693 | S>F | No |
ClinGen gnomAD |
|
|
rs1042353958 CA234145913 |
700 | P>R | No |
ClinGen Ensembl |
|
|
CA384310944 rs1186369292 |
702 | S>P | No |
ClinGen gnomAD |
|
|
rs1214899297 CA384310927 |
703 | G>D | No |
ClinGen gnomAD |
|
|
CA6482878 rs764449055 |
703 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs202165258 CA234145872 |
705 | Y>C | No |
ClinGen gnomAD |
|
|
rs1450680150 CA384310892 |
708 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA384310884 rs906496896 |
709 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs906496896 CA234145871 |
709 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1382389638 CA384310880 |
710 | E>* | No |
ClinGen gnomAD |
|
|
rs1382389638 CA384310879 |
710 | E>K | No |
ClinGen gnomAD |
|
|
CA234145870 rs899914013 |
711 | I>S | No |
ClinGen TOPMed |
|
|
CA234145869 rs1047864100 |
712 | M>L | No |
ClinGen Ensembl |
|
|
CA6482856 rs765762043 |
713 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 713 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384310853 rs1353203076 |
714 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384310841 rs1320151915 |
715 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA384310846 rs1328816108 |
715 | I>V | No |
ClinGen gnomAD |
|
|
CA384310839 rs1410832838 |
716 | N>D | No |
ClinGen gnomAD |
|
|
CA384310838 rs1410832838 |
716 | N>Y | No |
ClinGen gnomAD |
|
|
CA384310827 rs16924983 |
717 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760064122 CA6482855 |
717 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384310829 rs760064122 |
717 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs766527258 CA6482853 |
718 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA384310808 rs1347233781 |
720 | S>F | No |
ClinGen TOPMed |
|
|
CA384310797 rs1385486766 |
722 | I>V | No |
ClinGen gnomAD |
|
|
CA384310785 rs1183028836 |
723 | Q>L | No |
ClinGen gnomAD |
|
|
CA384310764 rs1352795441 |
724 | M>I | No |
ClinGen gnomAD |
|
|
rs779355428 CA384310769 |
724 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6482836 rs779355428 |
724 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1390541568 CA384310739 |
728 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 732 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451166277 CA384310710 |
732 | R>S | No |
ClinGen gnomAD |
|
|
CA6482835 rs540104284 |
734 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571208136 CA6482834 |
737 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1591985831 CA384310643 |
742 | A>G | No |
ClinGen Ensembl |
|
|
rs534139975 CA234145848 |
743 | L>V | No |
ClinGen 1000Genomes |
|
|
rs750469256 CA6482831 |
744 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750469256 CA234145847 |
744 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384310626 rs1187576876 |
745 | K>R | No |
ClinGen gnomAD |
|
|
rs754594176 CA234145846 |
746 | N>I | No |
ClinGen Ensembl |
|
|
rs964190869 CA234145845 |
747 | F>C | No |
ClinGen TOPMed |
|
|
CA6482829 rs372656896 |
748 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384310606 rs1260365042 |
748 | N>Y | No |
ClinGen gnomAD |
|
|
CA384310595 rs1254397596 |
749 | D>E | No |
ClinGen TOPMed |
|
|
CA384310591 rs1261394117 |
750 | L>H | No |
ClinGen gnomAD |
|
|
CA234145844 rs904498854 |
750 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 750 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384310584 rs1313362197 |
751 | C>S | No |
ClinGen gnomAD |
|
|
rs776663686 CA6482802 |
759 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA234145789 rs963429833 COSM161908 |
763 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1016649346 CA234145788 COSM3416722 |
763 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs772890026 CA6482799 |
765 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs148252472 CA6482798 |
766 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA234145787 rs960283255 |
768 | C>G | No |
ClinGen TOPMed |
|
|
rs746317210 CA6482793 |
772 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244816498 CA384310425 |
773 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 774 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781732179 CA6482792 |
774 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757806698 CA6482791 |
775 | F>L | No |
ClinGen ExAC |
|
|
CA384310398 rs1591983050 |
776 | T>A | No |
ClinGen Ensembl |
|
|
CA6482789 rs143732762 |
776 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6482790 rs143732762 |
776 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 777 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6482785 rs759399770 |
780 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162915730 CA384310263 |
786 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6482767 rs755195790 |
788 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1329263609 CA384310172 |
788 | T>I | No |
ClinGen gnomAD |
|
|
rs938801282 CA384310154 |
790 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA384310147 rs1318055946 |
790 | T>M | No |
ClinGen TOPMed |
|
|
rs938801282 CA234145733 |
790 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6482766 rs753663383 |
791 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384310130 rs1220657278 |
792 | V>F | No |
ClinGen TOPMed |
|
|
CA384309879 rs1438367532 |
792 | V>G | No |
ClinGen gnomAD |
|
|
CA6482762 rs767098592 |
793 | A>G | No |
ClinGen ExAC |
|
|
rs750393334 CA6482764 |
793 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482763 COSM938051 rs750393334 |
793 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1050325742 CA234145731 |
794 | I>V | No |
ClinGen gnomAD |
|
|
rs773780649 CA6482760 |
796 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761406224 CA6482761 |
796 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs537812372 CA6482759 |
797 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6482758 rs762575670 |
799 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482757 rs777040717 |
800 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482756 rs771297998 |
801 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs747448293 CA6482755 |
802 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6482754 rs778276506 |
803 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1465102562 CA384309815 |
803 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384309773 rs1448562418 |
807 | T>I | No |
ClinGen TOPMed |
|
|
CA384309762 rs1456320806 |
808 | P>L | No |
ClinGen gnomAD |
|
|
rs748229020 CA6482752 |
808 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482751 rs778927213 |
809 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs138291438 CA6482750 |
811 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1177981144 CA384309707 |
812 | S>L | No |
ClinGen TOPMed |
|
|
rs1346712773 CA384309699 |
813 | L>W | No |
ClinGen Ensembl |
|
|
rs1452253166 CA384309685 |
814 | Q>* | No |
ClinGen TOPMed |
|
|
rs1366265709 CA384309681 |
814 | Q>R | No |
ClinGen gnomAD |
|
|
rs756007985 CA6482747 |
815 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780448873 CA6482729 |
818 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1050578091 CA234145631 |
818 | T>I | No |
ClinGen TOPMed |
|
|
CA384309429 rs1464566949 |
822 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 822 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234145630 rs946863303 |
826 | F>V | No |
ClinGen TOPMed |
|
|
rs1266495272 CA384309331 |
827 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756450806 CA6482728 |
827 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1371982532 CA384309318 |
829 | E>K | No |
ClinGen gnomAD |
|
|
rs1591977315 CA384309296 |
830 | L>P | No |
ClinGen Ensembl |
|
|
CA234145629 rs202196779 |
831 | C>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 832 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367545136 CA6482725 |
833 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6482726 rs781195596 |
833 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA384309265 rs1161310524 |
833 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781195596 CA384309258 |
833 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA234145628 rs745361913 |
835 | L>V | No |
ClinGen gnomAD |
|
|
CA6482723 rs763590515 |
836 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs917396485 CA384309209 |
837 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs917396485 CA234145627 |
837 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs774869482 CA384309204 |
838 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774869482 CA6482722 |
838 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764838485 CA6482720 |
842 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA384309147 rs1489060673 |
842 | P>S | No |
ClinGen TOPMed |
|
|
CA384309151 rs1489060673 |
842 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 843 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6482699 rs754568683 |
845 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482697 rs767886202 |
846 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482696 rs762110281 |
846 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767886202 CA6482698 |
846 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428903443 CA384307163 |
847 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384307165 rs1428903443 |
847 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA234144339 rs1007416902 |
850 | K>N | No |
ClinGen TOPMed |
|
|
CA6482695 rs752007996 |
851 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs35498344 CA234144338 |
851 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1429280714 CA384307076 |
854 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6482694 rs375588532 |
854 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1020677959 CA234144336 |
855 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 857 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763617880 CA6482693 |
857 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA384307052 rs1218276901 |
858 | N>S | No |
ClinGen TOPMed |
|
|
rs775695990 CA6482692 |
860 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1258879122 CA384307039 |
860 | R>W | No |
ClinGen gnomAD |
|
|
CA384307028 rs1482946645 |
862 | R>C | No |
ClinGen gnomAD |
|
|
CA6482691 rs200468765 |
862 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384307008 rs1313382207 |
863 | S>F | No |
ClinGen TOPMed |
|
|
CA384307000 rs1353905388 |
864 | A>G | No |
ClinGen gnomAD |
|
|
rs1353905388 CA384306997 |
864 | A>V | No |
ClinGen gnomAD |
|
|
rs1264339505 CA384306991 |
865 | P>S | No |
ClinGen gnomAD |
|
|
CA384306962 rs1213062578 |
867 | C>F | No |
ClinGen TOPMed |
|
|
rs1266738707 CA384306942 |
869 | N>D | No |
ClinGen TOPMed |
|
|
rs1464818747 CA384306912 |
871 | T>S | No |
ClinGen TOPMed |
|
|
CA384306871 rs1342149069 |
875 | V>L | No |
ClinGen gnomAD |
|
|
rs372211694 CA6482689 |
876 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6482688 rs770710183 |
876 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1409183758 CA384306856 |
876 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1258381550 CA384306837 COSM1605955 |
877 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1309693117 CA384306848 |
877 | M>V | No |
ClinGen gnomAD |
|
|
rs756003309 COSM123919 CA6482687 |
878 | T>A | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA384306805 rs1565641235 |
880 | L>P | No |
ClinGen Ensembl |
|
|
CA6482686 rs777691857 |
880 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6482684 rs748092764 |
883 | I>S | No |
ClinGen ExAC |
|
|
rs778331577 CA6482683 |
888 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6482682 rs754517376 |
889 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs368807334 CA234144334 |
890 | K>T | No |
ClinGen ESP |
|
|
rs749736503 CA234144333 |
892 | L>V | No |
ClinGen Ensembl |
|
|
CA384306569 rs1426146952 |
893 | G>W | No |
ClinGen TOPMed |
|
| TCGA novel | 895 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6482681 rs753443673 COSM1676781 |
901 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA234144332 rs750223098 |
902 | E>A | No |
ClinGen Ensembl |
|
|
rs1227897840 CA384306330 |
904 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1320687329 CA384306326 |
904 | T>I | No |
ClinGen gnomAD |
|
|
rs1227897840 CA384306332 |
904 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1209861806 CA384306302 |
905 | S>C | No |
ClinGen gnomAD |
|
|
CA6482678 rs751861905 |
905 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA384306272 rs1227706100 |
907 | R>Q | No |
ClinGen gnomAD |
|
|
COSM1176638 CA6482675 rs753259599 |
907 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1389951266 CA384306048 |
909 | E>D | No |
ClinGen gnomAD |
|
|
CA6482653 rs142967989 |
909 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760743930 CA6482652 |
913 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA384305993 rs1565634617 |
918 | A>T | No |
ClinGen Ensembl |
|
|
rs770103944 CA234144002 |
920 | I>V | No |
ClinGen gnomAD |
|
|
CA6482650 rs773517581 |
926 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1243397475 CA384305889 |
929 | A>G | No |
ClinGen gnomAD |
|
|
rs1207899406 CA384305880 |
930 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs767253326 CA6482649 |
931 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs775442062 CA234144000 |
939 | V>F | No |
ClinGen Ensembl |
|
|
CA234143999 rs973028773 |
943 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA234143998 rs973028773 |
943 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1272777090 CA384305714 |
944 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 945 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964458413 CA234143997 |
945 | K>R | No |
ClinGen Ensembl |
|
|
rs761577672 CA384305667 |
946 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384305657 rs1272066783 |
947 | C>F | No |
ClinGen gnomAD |
|
|
rs774175633 CA6482647 |
950 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340410416 CA384305596 COSM938047 |
951 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA234143996 rs987317766 |
954 | N>H | No |
ClinGen TOPMed |
|
|
CA234143995 rs987317766 |
954 | N>Y | No |
ClinGen TOPMed |
|
|
CA6482632 rs375711023 |
958 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 961 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762093289 CA6482631 |
962 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs774116372 CA6482630 |
962 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1355935410 CA384305395 |
962 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 963 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565626970 CA384305384 |
964 | V>I | No |
ClinGen Ensembl |
|
|
rs762730716 CA6482628 |
965 | S>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1360733 CA6482625 rs759062171 |
968 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1182647736 CA384305353 |
968 | A>V | No |
ClinGen gnomAD |
|
|
CA6482624 rs776320004 |
970 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1234845197 CA384305337 |
971 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 972 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770702545 CA6482623 |
973 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234143568 rs575087747 |
973 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482622 rs575087747 |
973 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235676984 CA384305301 |
977 | L>V | No |
ClinGen gnomAD |
|
|
rs1288056791 CA384305293 |
978 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6482620 rs769096642 |
978 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384305285 rs1226066801 |
979 | V>A | No |
ClinGen gnomAD |
|
|
CA384305282 rs1224692722 |
980 | V>M | No |
ClinGen gnomAD |
|
|
rs749712962 CA6482619 |
982 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6482618 rs780591101 |
985 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349131592 CA384305246 |
985 | P>L | No |
ClinGen gnomAD |
|
|
CA384305248 rs780591101 |
985 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6482617 rs201956992 |
986 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6482616 rs566095282 |
986 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757409834 CA6482614 |
988 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384305220 rs1398682990 |
989 | C>W | No |
ClinGen TOPMed |
|
|
rs1411151631 CA384305215 |
990 | Q>R | No |
ClinGen gnomAD |
|
|
rs1159573085 CA384305207 |
991 | S>* | No |
ClinGen gnomAD |
|
|
CA6482613 rs370776773 |
992 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390454146 CA384305191 |
994 | T>P | No |
ClinGen gnomAD |
|
|
rs1189662245 CA384305188 |
994 | T>S | No |
ClinGen gnomAD |
|
|
rs1345416646 CA384305173 |
996 | G>D | No |
ClinGen TOPMed |
|
|
COSM1733922 CA234143565 rs1015103811 |
997 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs549478034 CA6482611 |
998 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752483173 CA6482610 |
1000 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1001 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q86YS7
6 regional properties for Q86YS7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | 229 - 238 | IPR002464 |
| domain | Helicase-like, DEXD box c2 type | 8 - 280 | IPR006554 |
| domain | ATP-dependent helicase, C-terminal | 524 - 699 | IPR006555 |
| domain | RAD3-like helicase, DEAD | 72 - 256 | IPR010614 |
| domain | Helical and beta-bridge domain | 272 - 413 | IPR010643 |
| domain | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type | 7 - 283 | IPR014013 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to insulin stimulus | 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 insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| insulin receptor signaling pathway via phosphatidylinositol 3-kinase | An insulin receptor signaling pathway in which the signal is transmitted via the phosphatidylinositol 3-kinase cascade. |
| intracellular protein transmembrane transport | The directed movement of proteins in a cell, from one side of a membrane to another by means of some agent such as a transporter or pore. |
| positive regulation of glucose transmembrane transport | Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of protein targeting to membrane | Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein. |
| positive regulation of vesicle fusion | Any process that activates or increases the frequency, rate or extent of vesicle fusion. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGKLKVKIV | AGRHLPVMDR | ASDLTDAFVE | VKFGNTTFKT | DVYLKSLNPQ | WNSEWFKFEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDEDLQDEPL | QITVLDHDTY | SANDAIGKVY | IDIDPLLYSE | AATVISGWFP | IYDTIHGIRG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EINVVVKVDL | FNDLNRFRQS | SCGVKFFCTT | SIPKCYRAVI | IHGFVEELVV | NEDPEYQWID |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIRTPRASNE | ARQRLISLMS | GELQRKIGLK | VLEMRGNAVV | GYLQCFDLEG | ESGLVVRAIG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TACTLDKLSS | PAAFLPACNS | PSKEMKEIPF | NEDPNPNTHS | SGPSTPLKNQ | TYSFSPSKSY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRQSSSSDTD | LSLTPKTGMG | SGSAGKEGGP | FKALLRQQTQ | SALEQREFPF | FTLTAFPPGF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVHVGGVVSA | RSVKLLDRIH | NPDEPETRDA | WWAEIRQEIK | SHAKALGCHA | VVGYSESTSI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CEEVCILSAS | GTAAVLNPRF | LQDGTVEGCL | EQRLEENLPT | RCGFCHIPYD | ELNMPFPAHL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TYCYNCRKQK | VPDVLFTTID | LPTDATVIGK | GCLIQARLCR | LKKKAQAEAN | ATAISNLLPF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MEYEVHTQLM | NKLKLKGMNA | LFGLRIQITV | GENMLMGLAS | ATGVYLAALP | TPGGIQIAGK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TPNDGSYEQH | ISHMQKKIND | TIAKNKELYE | INPPEISEEI | IGSPIPEPRQ | RSRLLRSQSE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SSDEVTELDL | SHGKKDAFVL | EIDDTDAMED | VHSLLTDVPP | PSGFYSCNTE | IMPGINNWTS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EIQMFTSVRV | IRLSSLNLTN | QALNKNFNDL | CENLLKSLYF | KLRSMIPCCL | CHVNFTVSLP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EDELIQVTVT | AVAITFDKNQ | ALQTTKTPVE | KSLQRASTDN | EELLQFPLEL | CSDSLPSHPF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PPAKAMTVEK | ASPVGDGNFR | NRSAPPCANS | TVGVVKMTPL | SFIPGAKITK | YLGIINMFFI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RETTSLREEG | GVSGFLHAFI | AEVFAMVRAH | VAALGGNAVV | SYIMKQCVFM | ENPNKNQAQC |
| 970 | 980 | 990 | |||
| LINVSGDAVV | FVRESDLEVV | SSQQPTTNCQ | SSCTEGEVTT |