Q96QU8
PR
Gene name |
XPO6 (KIAA0370, RANBP20) |
Protein name |
Exportin-6 |
Names |
Exp6, Ran-binding protein 20 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23214 |
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 Q96QU8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96QU8-F1 | Predicted | AlphaFoldDB |
669 variants for Q96QU8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA395371841 rs1411914442 |
5 | E>K | No |
ClinGen TOPMed |
|
|
CA7980004 rs765093671 |
6 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7980005 rs765093671 |
6 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395371827 rs1293016808 |
7 | S>T | No |
ClinGen TOPMed |
|
|
CA395371819 rs1321476958 |
8 | L>P | No |
ClinGen TOPMed |
|
|
CA395371793 rs1333382685 |
12 | E>G | No |
ClinGen gnomAD |
|
|
rs371005110 CA280167054 |
13 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 17 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425789940 CA395371737 |
20 | H>D | No |
ClinGen gnomAD |
|
|
rs763488758 CA7980001 |
21 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760300879 CA7980000 |
22 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs376545987 CA7979999 |
25 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7979998 rs767227203 |
29 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs199755233 CA7979997 |
29 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA280166657 rs58300657 |
35 | L>F | No |
ClinGen Ensembl |
|
|
rs201208528 CA7979979 |
40 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395371565 rs1243461354 |
42 | I>M | No |
ClinGen gnomAD |
|
|
CA280166656 rs915865054 |
43 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 46 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 48 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395371518 rs1413595234 |
49 | L>P | No |
ClinGen TOPMed |
|
|
CA395371474 rs1445993509 |
56 | R>G | No |
ClinGen gnomAD |
|
|
CA7979977 rs759253961 |
56 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA395371454 CA7979976 rs774115381 |
58 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458528534 CA395371449 |
59 | Y>C | No |
ClinGen gnomAD |
|
|
rs1161954154 CA395371431 |
61 | M>I | No |
ClinGen gnomAD |
|
|
CA719668429 rs1433431237 |
63 | Y>* | No |
ClinGen TOPMed |
|
|
rs201363503 CA7979962 |
73 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756045090 CA7979961 |
75 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767126959 CA395371298 |
78 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7979959 rs767126959 |
78 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1596935649 CA395371288 |
79 | V>G | No |
ClinGen Ensembl |
|
|
rs1447350461 CA395371293 |
79 | V>I | No |
ClinGen TOPMed |
|
|
CA395371286 rs1377750154 |
80 | P>A | No |
ClinGen TOPMed |
|
|
CA7979958 rs754588129 |
82 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7979957 rs751143622 |
82 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766017222 CA7979956 |
83 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7979955 rs201683867 |
85 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1322828664 CA395371226 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7979954 rs750743784 |
89 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220604677 CA395371200 |
92 | P>L | No |
ClinGen gnomAD |
|
|
rs1596935545 CA395371196 |
93 | K>R | No |
ClinGen Ensembl |
|
|
CA7979953 rs765591868 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297861470 CA395371165 |
98 | H>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 101 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM400348 COSM400347 CA280166533 rs374908886 |
107 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs1465983452 CA395371068 |
111 | C>W | No |
ClinGen gnomAD |
|
|
rs1427919022 CA395371062 |
112 | K>I | No |
ClinGen gnomAD |
|
|
rs1173618440 CA395371059 |
113 | V>L | No |
ClinGen gnomAD |
|
|
rs768689417 CA7979950 |
117 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1426475966 CA395371018 |
119 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395371010 rs1258015701 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA280166532 rs369758794 |
124 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA395370981 rs1200903159 |
124 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775452295 CA395370949 |
127 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979949 rs760767432 |
127 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377255371 CA7979947 |
128 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 128 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979946 rs746079866 |
131 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200298571 CA7979921 |
138 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs578138118 CA7979922 |
138 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423712275 CA395370847 |
139 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7979920 rs746926232 |
140 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA280165872 rs1054109710 |
143 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750046733 CA7979918 |
143 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750046733 CA7979917 |
143 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1054109710 CA395370828 |
143 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs368155053 CA7979914 |
144 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368155053 CA7979915 |
144 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753198720 CA7979911 |
148 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350581308 CA395370791 CA395370792 |
149 | M>I | No |
ClinGen gnomAD |
|
|
CA395370796 rs1241400792 |
149 | M>T | No |
ClinGen gnomAD |
|
|
rs1489254091 CA395370786 |
150 | L>W | No |
ClinGen TOPMed |
|
|
rs767607980 CA7979910 |
152 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs868799249 CA280165871 |
154 | S>L | No |
ClinGen Ensembl |
|
|
rs759579858 CA7979909 |
159 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395370717 rs1303341801 |
161 | R>C | No |
ClinGen gnomAD |
|
|
CA395370716 rs1403962694 |
161 | R>H | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774608081 CA395370702 |
163 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7979908 rs774608081 |
163 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA395370689 rs1382641033 |
165 | S>N | No |
ClinGen TOPMed |
|
|
rs1401142029 CA395370672 |
168 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs558020059 COSM1270610 CA7979907 COSM1270611 |
168 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA395370668 rs1596924539 |
169 | K>E | No |
ClinGen Ensembl |
|
|
rs1596924522 CA395370657 |
170 | E>G | No |
ClinGen Ensembl |
|
|
rs1002856296 CA280165869 |
170 | E>K | No |
ClinGen TOPMed |
|
|
rs1596924512 CA395370649 |
171 | E>G | No |
ClinGen Ensembl |
|
|
CA395370644 rs1596924505 |
172 | L>V | No |
ClinGen Ensembl |
|
|
CA395370635 rs1378281587 |
173 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA395370637 rs1479025315 |
173 | R>W | No |
ClinGen gnomAD |
|
|
CA7979904 rs768404046 |
178 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395370602 rs1217762921 |
179 | Q>E | No |
ClinGen gnomAD |
|
|
CA395370590 rs1446832486 |
180 | V>G | No |
ClinGen gnomAD |
|
|
rs113061700 CA7979903 |
181 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374573069 CA7979902 |
182 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7979901 rs772077448 |
182 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745332504 CA7979900 |
184 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1222435550 CA395370564 |
185 | G>E | No |
ClinGen gnomAD |
|
|
CA7979883 rs377178961 |
189 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7979882 rs771844319 |
190 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773843350 CA7979880 |
192 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1567634369 CA395370498 |
194 | V>D | No |
ClinGen Ensembl |
|
|
CA395370493 rs1596918501 |
195 | W>G | No |
ClinGen Ensembl |
|
|
CA280165553 rs199498665 |
196 | D>G | No |
ClinGen 1000Genomes |
|
|
rs537478385 CA280165554 |
196 | D>H | No |
ClinGen 1000Genomes TOPMed |
|
|
CA395370485 rs537478385 |
196 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs777326313 CA7979877 |
198 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1596918452 CA395370455 |
200 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755824996 CA7979876 |
201 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755824996 CA395370451 |
201 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280165552 rs199701357 |
202 | A>P | No |
ClinGen Ensembl |
|
|
CA395370442 rs1306552633 |
202 | A>V | No |
ClinGen gnomAD |
|
|
rs1229797183 CA395370424 |
205 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757547483 CA7979875 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA280165551 rs951181609 |
206 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395370410 rs1379137492 |
208 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395370409 rs1379137492 |
208 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781632203 CA7979873 |
209 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1353430010 CA395370397 |
210 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395370390 rs1425642400 |
212 | G>R | No |
ClinGen gnomAD |
|
|
rs918418372 CA280165550 |
214 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395370375 rs918418372 |
214 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769274948 CA7979856 |
216 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA395370285 rs1567628123 |
224 | S>C | No |
ClinGen Ensembl |
|
|
rs1267820672 CA395370260 |
227 | S>L | No |
ClinGen gnomAD |
|
|
CA7979854 rs781407091 |
228 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA395370246 rs1317351592 |
230 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769203615 CA7979853 |
230 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7979852 rs187667928 |
232 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780747269 CA7979851 |
234 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758995499 CA7979850 |
235 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395370214 rs758995499 |
235 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280164443 rs902852483 |
237 | I>V | No |
ClinGen Ensembl |
|
|
rs779052398 CA7979848 |
239 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7979846 rs200608394 |
244 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767275654 CA7979845 |
246 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569757630 CA7979844 |
247 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395370120 rs1361470724 |
249 | A>V | No |
ClinGen gnomAD |
|
|
CA7979840 rs772533717 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA395370100 rs1413947125 |
252 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200312698 CA7979839 |
255 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7979837 rs776396942 |
258 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1567627960 CA395370059 |
258 | S>N | No |
ClinGen Ensembl |
|
|
CA395370052 rs1262177789 |
259 | W>S | No |
ClinGen gnomAD |
|
|
rs1199733368 CA395370035 |
261 | P>L | No |
ClinGen TOPMed |
|
|
rs201749043 CA280164442 |
263 | S>P | No |
ClinGen 1000Genomes |
|
|
rs202200544 CA280164441 |
265 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 267 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979835 rs747339363 |
268 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs780577836 CA7979834 |
268 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567627900 CA395369989 |
269 | S>F | No |
ClinGen Ensembl |
|
|
rs1295285655 CA395369960 |
274 | I>T | No |
ClinGen gnomAD |
|
|
rs1327332306 COSM557252 CA395369963 |
274 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA280164438 rs999294930 |
276 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 278 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979833 rs746452823 |
279 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979832 rs746452823 |
279 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280164437 rs746452823 |
279 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1158436668 CA395369915 |
281 | G>D | No |
ClinGen TOPMed |
|
|
CA280164435 rs371228243 |
282 | C>R | No |
ClinGen ESP TOPMed |
|
|
CA280164436 rs371228243 |
282 | C>S | No |
ClinGen ESP TOPMed |
|
|
CA395369899 rs749437328 |
283 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280164434 COSM435009 rs892898252 COSM435010 |
285 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7979828 rs367627786 |
285 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463215233 CA395369887 |
286 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417943478 CA395369862 |
289 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1050245957 CA280164433 |
289 | M>V | No |
ClinGen Ensembl |
|
|
rs756354283 CA7979827 |
290 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA395369858 TCGA novel rs756354283 |
290 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA ExAC gnomAD |
|
CA7979826 rs201118038 |
290 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA395369839 rs1596896593 |
293 | N>T | No |
ClinGen Ensembl |
|
|
rs373823205 CA7979823 |
294 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395369822 rs1218421877 |
295 | S>R | No |
ClinGen Ensembl |
|
|
rs1283746389 CA395369818 |
296 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208612573 CA395369804 |
298 | N>D | No |
ClinGen Ensembl |
|
|
CA7979822 rs764633177 |
299 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979821 rs372198359 |
301 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271671375 CA395369774 |
302 | G>V | No |
ClinGen gnomAD |
|
|
rs1251011452 CA395369761 |
304 | E>G | No |
ClinGen gnomAD |
|
|
CA7979819 rs368965394 |
305 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760407575 CA7979818 |
305 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7979815 rs746335516 |
306 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979816 rs746335516 |
306 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395369753 rs746335516 |
306 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979813 rs753711514 |
307 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979814 rs774960516 |
307 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1596896330 CA395369730 |
310 | V>G | No |
ClinGen Ensembl |
|
|
rs371228100 CA7979812 |
310 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460239177 CA395369726 |
311 | L>P | No |
ClinGen gnomAD |
|
|
rs1361497459 CA395369695 |
316 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758264198 CA7979807 |
317 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7979804 rs757164838 |
321 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs375332844 CA280164432 |
327 | M>I | No |
ClinGen ESP |
|
|
rs763761290 CA7979802 |
327 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370746097 CA7979801 |
329 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357923951 CA395369557 |
335 | R>C | No |
ClinGen gnomAD |
|
|
rs759900160 CA7979799 |
335 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759900160 CA7979798 |
335 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA395369550 rs771407416 CA7979796 |
336 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs774599146 CA7979797 |
336 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs199945852 CA7979795 |
337 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407627763 CA395369522 |
339 | Q>R | No |
ClinGen gnomAD |
|
|
rs1367111596 CA395369512 |
340 | T>A | No |
ClinGen gnomAD |
|
|
CA395369479 rs1460844923 |
342 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395369483 rs769924089 |
342 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979793 rs769924089 |
342 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280164431 rs974713835 |
343 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1236927529 CA395369448 |
345 | Q>K | No |
ClinGen TOPMed |
|
|
rs766221334 CA280164429 |
347 | I>V | No |
ClinGen Ensembl |
|
|
CA7979792 rs748348432 |
348 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA395369393 rs1166250785 |
349 | K>N | No |
ClinGen gnomAD |
|
|
CA395369375 rs1413546751 |
351 | N>D | No |
ClinGen TOPMed |
|
|
CA395369367 rs1363309511 |
351 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs369899782 CA7979791 |
352 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280164427 rs1035908591 |
353 | A>V | No |
ClinGen TOPMed |
|
|
CA280164426 rs760984374 |
355 | T>I | No |
ClinGen Ensembl |
|
|
rs1465200570 CA395369312 |
356 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395369290 rs768794412 |
358 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768794412 CA7979790 |
358 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM286578 rs1488341539 CA395369245 COSM286579 |
364 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA280164127 rs1031168517 |
367 | Y>C | No |
ClinGen Ensembl |
|
|
CA280164126 rs201964759 |
368 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7979767 rs375223756 |
369 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 370 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979766 rs564630263 |
370 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751233234 CA7979763 |
375 | L>V | No |
ClinGen ExAC |
|
|
rs1057418870 CA280164124 |
376 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1057418870 CA395369145 |
376 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766747374 CA7979762 |
376 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486779169 CA395369125 |
379 | V>G | No |
ClinGen TOPMed |
|
|
rs903674622 CA280164123 |
381 | V>I | No |
ClinGen Ensembl |
|
|
CA395369080 rs1202554107 |
386 | I>T | No |
ClinGen gnomAD |
|
|
CA395369077 rs1274731269 |
387 | E>K | No |
ClinGen gnomAD |
|
|
CA395369053 rs1256920458 |
390 | S>P | No |
ClinGen TOPMed |
|
|
CA395369047 rs1338538108 |
391 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1295225788 CA395369044 |
391 | Q>R | No |
ClinGen gnomAD |
|
|
CA280164122 rs536946124 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs536946124 CA7979757 |
393 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs768673910 CA7979756 |
395 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760929004 CA7979755 |
396 | E>D | No |
ClinGen ExAC |
|
|
CA395369010 rs1188246817 |
397 | F>L | No |
ClinGen TOPMed |
|
|
rs1445964001 CA395369001 |
398 | L>V | No |
ClinGen gnomAD |
|
|
rs1168071669 CA395368987 |
400 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229837405 CA395368965 |
403 | K>T | No |
ClinGen Ensembl |
|
|
CA395368951 rs1409710167 |
405 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 407 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395339125 rs1305337312 |
409 | P>A | No |
ClinGen gnomAD |
|
|
rs1425733952 CA395339119 |
410 | T>A | No |
ClinGen gnomAD |
|
|
CA395339115 rs1489154927 |
410 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385139394 CA395339108 |
411 | H>Q | No |
ClinGen gnomAD |
|
|
rs1194052913 CA395339097 |
413 | G>S | No |
ClinGen TOPMed |
|
|
rs371332517 CA7979734 |
422 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7979732 rs767787076 |
424 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA395339019 rs1192476698 |
424 | F>V | No |
ClinGen TOPMed |
|
|
rs759840969 CA7979731 |
426 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA395339005 rs1472056086 |
426 | D>H | No |
ClinGen gnomAD |
|
|
CA7979730 rs200977613 |
430 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395338973 rs1175937798 |
431 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 431 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374117562 CA395338965 |
432 | I>V | No |
ClinGen TOPMed |
|
|
rs202101163 CA279791260 |
433 | K>R | No |
ClinGen 1000Genomes |
|
|
rs201911525 CA279791258 |
434 | S>G | No |
ClinGen 1000Genomes |
|
|
rs1480596743 CA395338945 |
435 | R>C | No |
ClinGen gnomAD |
|
|
rs542603036 CA7979729 |
435 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264754662 CA395338921 |
438 | D>E | No |
ClinGen gnomAD |
|
|
rs1056102089 CA279791256 |
439 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA395338905 rs1307781255 |
441 | A>T | No |
ClinGen gnomAD |
|
|
rs1326118456 CA395338883 |
444 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 445 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979712 rs749921443 |
447 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538603175 CA7979709 |
450 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765098197 CA7979710 |
450 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200483050 CA279788533 |
458 | L>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA279788530 rs1009540175 |
459 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1262287481 CA395338772 |
460 | R>G | No |
ClinGen gnomAD |
|
|
rs1187890904 CA395338770 |
460 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395338754 rs1253436155 |
462 | Q>H | No |
ClinGen TOPMed |
|
|
CA7979705 rs774978575 |
462 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7979703 rs745487782 |
466 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA279788513 rs896466465 |
468 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1181081139 CA395338711 |
468 | A>V | No |
ClinGen TOPMed |
|
|
rs1406929047 CA395338687 |
472 | E>K | No |
ClinGen TOPMed |
|
|
CA7979699 rs778200046 |
473 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1349261036 CA395338644 |
478 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 479 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157468088 CA395338624 |
481 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 481 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979675 rs201168838 |
488 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979674 rs751632811 |
488 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201168838 CA395338557 |
488 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780188038 CA7979673 |
489 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs758546277 CA7979672 |
491 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915864379 CA279788071 |
491 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395338506 rs1354973826 |
496 | V>M | No |
ClinGen gnomAD |
|
|
CA279788062 rs79658746 |
498 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7979670 rs79658746 |
498 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs960071344 CA279788057 |
500 | V>A | No |
ClinGen Ensembl |
|
|
CA279788059 rs549656264 |
500 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA395338476 rs1407720756 |
501 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7979669 rs760420734 |
501 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA395338477 rs1407720756 |
501 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395338458 rs1324061438 |
503 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759470184 CA395338442 |
506 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979666 rs759470184 |
506 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 507 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395338429 rs1213606312 |
508 | A>G | No |
ClinGen TOPMed |
|
|
CA7979663 COSM969397 rs560769985 COSM969399 |
508 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs772960938 CA7979662 |
509 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs374967808 CA279788035 |
509 | F>L | No |
ClinGen ESP |
|
|
CA395338417 rs1278921982 |
510 | S>C | No |
ClinGen TOPMed |
|
|
rs777152924 CA7979659 |
512 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA395338384 rs1325206675 |
514 | P>S | No |
ClinGen gnomAD |
|
|
CA279787455 rs949219722 |
519 | N>K | No |
ClinGen TOPMed |
|
|
rs776023941 CA7979639 |
520 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA395338334 rs1342652781 |
521 | E>G | No |
ClinGen gnomAD |
|
|
CA279787452 rs772478517 |
524 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1225743888 CA395338294 |
527 | Q>R | No |
ClinGen TOPMed |
|
|
CA7979636 rs200047458 |
528 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979633 rs780940749 |
532 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA395338251 rs1333790119 |
533 | S>L | No |
ClinGen gnomAD |
|
|
CA395338213 rs1210445200 |
537 | H>R | No |
ClinGen gnomAD |
|
|
rs749478982 CA7979616 |
538 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA395338186 rs1332676409 |
541 | I>N | No |
ClinGen gnomAD |
|
|
CA7979614 rs770028167 |
541 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201657764 CA7979613 |
542 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758356208 CA7979611 |
543 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778547714 CA7979609 |
544 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 545 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879537934 CA279784726 |
548 | R>Q | No |
ClinGen gnomAD |
|
|
rs763779312 CA7979605 |
548 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7979603 rs753097036 |
549 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA395338136 rs753097036 |
549 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs76877639 CA395338137 |
549 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395338118 rs1249324236 |
552 | C>S | No |
ClinGen gnomAD |
|
|
CA395338104 rs1596824225 |
554 | L>P | No |
ClinGen Ensembl |
|
|
rs950965171 CA279784723 |
557 | L>F | No |
ClinGen Ensembl |
|
|
rs1488764349 CA395338078 |
558 | S>N | No |
ClinGen gnomAD |
|
|
CA395338069 rs1219387776 |
559 | S>C | No |
ClinGen gnomAD |
|
|
CA7979600 rs774876614 |
561 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7979599 rs771457210 |
562 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA395338043 rs769992717 |
564 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979596 rs769992717 |
564 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979597 rs773294809 COSM1232969 COSM1232968 |
564 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1232970 CA7979595 rs748385668 COSM1232971 |
566 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7979594 rs779889004 |
566 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1384005862 CA395337995 |
572 | I>V | No |
ClinGen TOPMed |
|
|
CA7979591 rs778942589 |
573 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA279784696 rs1054687636 |
575 | V>A | No |
ClinGen TOPMed |
|
|
rs1325406268 CA395337976 |
575 | V>M | No |
ClinGen TOPMed |
|
|
CA7979589 rs748737569 |
579 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7979590 rs575645455 |
579 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7979587 rs755777803 |
581 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs752340359 CA7979586 |
581 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA395337893 rs1248697186 |
582 | D>G | No |
ClinGen gnomAD |
|
|
CA7979583 rs751946143 |
587 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395337668 rs1201271397 |
594 | T>I | No |
ClinGen gnomAD |
|
|
CA7979566 rs777314888 |
595 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050186045 CA279783307 |
598 | S>P | No |
ClinGen gnomAD |
|
|
CA7979564 rs747723765 |
600 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1416889657 CA395337611 |
603 | Y>C | No |
ClinGen TOPMed |
|
|
CA395337614 rs1226938992 |
603 | Y>H | No |
ClinGen gnomAD |
|
|
CA395337606 rs1324203300 |
604 | N>D | No |
ClinGen gnomAD |
|
|
rs1465998188 CA395337599 |
605 | I>V | No |
ClinGen TOPMed |
|
|
rs370793278 CA7979562 |
608 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395337563 rs1441519142 |
610 | P>L | No |
ClinGen TOPMed |
|
|
CA279783300 COSM1493645 COSM1493644 rs981253977 |
610 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1300858886 CA395337555 |
612 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395337554 rs1300858886 |
612 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7979557 rs570091641 |
616 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750981970 CA7979558 |
616 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1292984380 CA395337514 |
618 | I>T | No |
ClinGen TOPMed |
|
|
rs550108572 CA7979555 |
619 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1439212130 | 620 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979535 rs764289350 |
624 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1596807787 CA395337077 |
626 | A>V | No |
ClinGen Ensembl |
|
|
rs767881985 CA7979532 |
627 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567600401 CA395337017 |
631 | Y>C | No |
ClinGen Ensembl |
|
|
CA7979528 rs761878583 COSM1194001 COSM1194000 |
637 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7979529 rs769553397 |
637 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395336883 rs1389049525 |
640 | S>N | No |
ClinGen gnomAD |
|
|
rs895855293 CA279781866 |
641 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 641 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395336840 rs1439827455 |
644 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7979526 rs768204322 |
644 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs549471531 CA279781865 |
645 | Q>K | No |
ClinGen gnomAD |
|
|
CA279781862 rs1055803411 |
647 | T>A | No |
ClinGen TOPMed |
|
|
rs369766569 CA7979525 |
647 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7979524 rs377258355 |
648 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1392401375 CA395336762 |
651 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 653 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531649702 CA279781853 |
656 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA395336679 rs1378649188 |
657 | T>I | No |
ClinGen gnomAD |
|
|
COSM1189231 CA395336684 rs1479214715 COSM1189230 |
657 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA395336670 rs1326563278 |
658 | M>T | No |
ClinGen Ensembl |
|
|
rs754413385 CA7979519 |
658 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1596807432 CA395336652 |
659 | D>G | No |
ClinGen Ensembl |
|
|
rs1170218844 CA395336641 |
660 | A>S | No |
ClinGen gnomAD |
|
|
CA7979518 rs112823341 |
661 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM969387 COSM969385 CA7979517 rs374116829 |
662 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA395336606 rs1252158392 |
663 | P>S | No |
ClinGen gnomAD |
|
|
CA7979490 rs376525758 |
669 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7979491 rs757040782 |
669 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751285075 CA7979488 |
670 | Q>H | No |
ClinGen ExAC |
|
|
rs770163744 CA395336374 |
671 | D>E | No |
ClinGen gnomAD |
|
|
rs1219371735 CA395336368 |
672 | K>R | No |
ClinGen TOPMed |
|
|
rs760613022 CA7979485 |
674 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1050148366 CA395336341 |
677 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM969376 CA279776322 rs1050148366 COSM969374 |
677 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7979483 rs767059077 |
680 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7979482 rs759076630 |
682 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 683 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 688 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 689 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395336270 rs1047051017 |
689 | R>P | No |
ClinGen TOPMed |
|
|
CA279776309 rs1047051017 |
689 | R>Q | No |
ClinGen TOPMed |
|
|
rs372966193 CA7979478 |
691 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1596796873 CA395336217 |
697 | P>L | No |
ClinGen Ensembl |
|
|
rs1380091899 CA395336220 |
697 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7979477 rs770422311 |
704 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770422311 CA395336171 |
704 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368866144 CA7979476 |
707 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395336137 rs1353335958 |
709 | A>D | No |
ClinGen gnomAD |
|
|
rs1409716743 CA395336138 |
709 | A>T | No |
ClinGen gnomAD |
|
|
CA395336127 rs1406613948 |
711 | A>T | No |
ClinGen gnomAD |
|
|
CA7979474 rs755127161 |
712 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747093859 CA7979473 |
713 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395336112 rs1567596961 |
714 | L>F | No |
ClinGen Ensembl |
|
|
CA395336101 rs1173003954 |
716 | D>A | No |
ClinGen gnomAD |
|
|
CA7979471 rs753566648 |
716 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979470 rs753566648 |
716 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765014386 CA395336064 |
719 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1320848899 CA395336067 |
719 | Q>R | No |
ClinGen gnomAD |
|
|
CA395336041 rs1343193804 |
723 | C>G | No |
ClinGen gnomAD |
|
|
rs1178016186 CA395336040 |
723 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM264736 COSM264735 rs1433696503 CA395336033 |
724 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs545398747 CA7979438 |
728 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3817672 CA395336000 rs1204792509 COSM3817673 |
729 | I>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1037316841 CA279775720 |
729 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769143225 CA7979437 |
733 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA395335975 rs769143225 |
733 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 734 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422889839 CA395335946 |
735 | P>L | No |
ClinGen TOPMed |
|
|
CA395335949 rs1347724091 |
735 | P>S | No |
ClinGen gnomAD |
|
|
rs772081390 CA7979434 |
738 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1359516010 CA395335835 COSM1232966 COSM1232967 |
745 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs575041244 CA279775689 |
746 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575041244 CA7979430 |
746 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1171719848 CA395335791 |
749 | I>S | No |
ClinGen gnomAD |
|
|
CA279775685 rs201080586 |
750 | N>Y | No |
ClinGen 1000Genomes |
|
|
rs205384 CA279775683 |
751 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM969369 rs534087965 CA279775682 COSM969367 |
752 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7979426 rs779587642 |
753 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM969364 COSM969366 rs1415920480 CA395335750 |
753 | S>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7979425 rs757942295 |
755 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749976444 CA7979424 |
757 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7979422 rs761566753 |
759 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761566753 CA395335684 |
759 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754229185 CA7979421 |
760 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1003901420 CA279775666 |
760 | R>W | No |
ClinGen gnomAD |
|
|
CA7979418 rs745862947 |
761 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979417 rs372203816 |
763 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA279775654 rs145368246 COSM184545 |
763 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA7979416 rs759553888 |
764 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7979415 rs574144151 |
764 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776466421 CA7979412 |
764 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs574144151 CA7979414 |
764 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395335623 rs1411549285 |
766 | K>E | No |
ClinGen gnomAD |
|
|
rs768377282 CA7979411 |
768 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054512749 COSM702780 COSM702781 CA279775612 |
772 | P>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs779809302 CA7979409 |
775 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7979408 rs758427183 |
776 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1165783861 CA395335487 |
777 | P>A | No |
ClinGen gnomAD |
|
|
CA395335431 rs1467741078 |
782 | K>R | No |
ClinGen gnomAD |
|
|
CA395335432 rs1467741078 |
782 | K>T | No |
ClinGen gnomAD |
|
|
CA395335411 rs1596784298 |
785 | I>T | No |
ClinGen Ensembl |
|
|
CA395335405 rs1596784274 |
786 | H>P | No |
ClinGen Ensembl |
|
|
CA395335406 rs1270892262 |
786 | H>Y | No |
ClinGen gnomAD |
|
|
CA395335387 rs1351164912 |
788 | T>I | No |
ClinGen gnomAD |
|
|
CA395335372 rs11557749 |
791 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs11557749 CA7979388 |
791 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395335327 rs1403187008 |
797 | E>G | No |
ClinGen TOPMed |
|
|
CA395335318 rs1392468832 |
798 | N>T | No |
ClinGen gnomAD |
|
|
CA395335321 rs1395016760 |
798 | N>Y | No |
ClinGen TOPMed |
|
|
CA7979384 rs777230131 |
799 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384672952 CA395335304 |
800 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 802 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277285598 CA395335287 |
803 | S>A | No |
ClinGen TOPMed |
|
|
CA395335280 rs1479285273 |
804 | T>N | No |
ClinGen gnomAD |
|
|
CA395335271 rs1193646852 |
805 | K>N | No |
ClinGen gnomAD |
|
|
CA395335273 rs1324405303 |
805 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 807 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 807 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979382 rs752998251 |
813 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs755454850 CA7979380 |
817 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA395335190 rs755454850 |
817 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1283289725 CA395335187 |
818 | V>L | No |
ClinGen gnomAD |
|
|
rs752102050 CA7979379 |
820 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371117435 CA7979378 |
823 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 824 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395335128 rs1368898353 |
827 | A>V | No |
ClinGen gnomAD |
|
|
CA7979376 rs750531600 |
831 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA395335070 rs1213641159 |
834 | V>M | No |
ClinGen gnomAD |
|
|
rs1426143877 CA395335060 |
835 | T>I | No |
ClinGen TOPMed |
|
|
rs1426143877 CA395335061 |
835 | T>S | No |
ClinGen TOPMed |
|
|
rs1171835170 CA395335051 |
837 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA279772560 rs1002570462 |
840 | S>N | No |
ClinGen Ensembl |
|
|
CA7979358 rs758949707 |
840 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs371335942 CA7979357 |
842 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA279772553 rs188830905 |
846 | F>S | No |
ClinGen 1000Genomes |
|
|
CA7979356 rs765418308 |
847 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395334983 rs1469836772 |
847 | R>Q | No |
ClinGen TOPMed |
|
|
CA395334961 rs1484642137 |
851 | V>I | No |
ClinGen gnomAD |
|
|
CA395334936 rs1205222689 |
854 | G>D | No |
ClinGen gnomAD |
|
|
rs764430043 CA7979353 |
854 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7979352 rs201832223 |
855 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271032960 CA395334927 |
856 | P>S | No |
ClinGen gnomAD |
|
|
CA395334909 rs1399458517 |
858 | T>I | No |
ClinGen TOPMed |
|
|
rs770766825 CA7979350 |
864 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747689429 CA7979346 |
867 | N>D | No |
ClinGen ExAC |
|
|
CA279772482 rs775708685 |
867 | N>S | No |
ClinGen Ensembl |
|
|
rs1352800928 CA395334843 |
868 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7979345 rs780775153 |
871 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1405726001 CA395334801 |
872 | E>G | No |
ClinGen gnomAD |
|
|
rs775697731 CA7979324 |
876 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772531037 CA7979323 |
877 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7979321 rs779414733 |
880 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749372368 CA7979319 |
883 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 884 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979318 rs778055089 |
884 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA279772323 rs973737006 |
885 | G>S | No |
ClinGen TOPMed |
|
|
CA7979316 rs375817097 |
887 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368314934 CA7979317 |
887 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA395334695 rs1596780810 |
888 | V>G | No |
ClinGen Ensembl |
|
|
CA7979314 rs367992543 |
888 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596780797 CA395334689 |
889 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 890 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429780501 CA395334685 |
890 | E>V | No |
ClinGen gnomAD |
|
|
rs1596780736 CA395334622 |
899 | V>G | No |
ClinGen Ensembl |
|
|
rs765157125 CA7979312 |
899 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1394522845 CA395334610 |
901 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1267341949 CA395334599 |
902 | E>D | No |
ClinGen TOPMed |
|
|
rs1430503740 CA395334582 |
905 | Q>R | No |
ClinGen gnomAD |
|
|
CA395334573 rs1596780667 |
906 | V>G | No |
ClinGen Ensembl |
|
|
CA395334565 rs781393626 |
907 | F>L | No |
ClinGen gnomAD |
|
|
CA395334552 rs1260165588 |
909 | P>L | No |
ClinGen gnomAD |
|
|
rs776109152 CA7979310 |
909 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347878162 CA395334546 |
910 | F>S | No |
ClinGen gnomAD |
|
|
CA395334532 rs1381661510 |
912 | P>L | No |
ClinGen TOPMed |
|
|
rs374690954 COSM969352 COSM969354 CA7979306 |
916 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251536153 CA395334505 |
916 | A>V | No |
ClinGen gnomAD |
|
|
rs1381396197 CA395334461 |
922 | V>G | No |
ClinGen gnomAD |
|
|
CA7979304 rs373365693 |
923 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771548833 CA7979303 |
924 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395334449 rs771548833 |
924 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7979301 rs777968287 |
925 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359226994 CA395334075 |
929 | R>C | No |
ClinGen TOPMed |
|
|
CA279771279 rs911663756 |
932 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766982937 CA7979268 |
932 | P>H | No |
ClinGen ExAC |
|
|
rs1047567358 CA279771236 |
934 | V>G | No |
ClinGen Ensembl |
|
|
rs1336338584 CA395334038 |
935 | K>R | No |
ClinGen gnomAD |
|
|
rs184308764 CA7979264 |
937 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7979263 rs773716946 |
940 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1488534659 CA395333999 |
941 | L>F | No |
ClinGen TOPMed |
|
|
CA395333994 rs1207551815 |
942 | L>V | No |
ClinGen gnomAD |
|
|
rs762286015 CA7979261 |
944 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs571488807 CA7979262 |
944 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7979260 rs375931973 |
945 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454748578 CA395333973 |
946 | L>V | No |
ClinGen gnomAD |
|
|
CA7979257 rs372260416 |
947 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200543236 CA7979256 |
949 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395333944 rs1254438751 |
950 | W>R | No |
ClinGen gnomAD |
|
|
rs917671591 CA279771178 |
956 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 960 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756054004 CA7979253 |
963 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs562867975 CA7979252 |
964 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7979251 rs781218954 |
964 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1237995492 CA395333843 |
965 | G>R | No |
ClinGen gnomAD |
|
|
CA279771165 rs1024331646 |
967 | A>T | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7979249 rs751127561 |
974 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs766063007 CA395333767 |
975 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs766063007 CA7979248 |
975 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395333768 rs756811873 |
975 | P>S | No |
ClinGen gnomAD |
|
|
CA279771146 rs756811873 |
975 | P>T | No |
ClinGen gnomAD |
|
|
rs750806090 CA7979246 |
978 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs750806090 CA395333746 |
978 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1033218293 CA279771139 |
980 | I>F | No |
ClinGen Ensembl |
|
|
CA7979245 rs765572341 |
980 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1157406502 CA395333725 |
981 | M>I | No |
ClinGen gnomAD |
|
|
CA7979226 rs750142081 |
987 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757518457 CA7979223 |
989 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754247567 CA7979222 |
990 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7979221 rs764445541 |
991 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775522622 CA7979219 |
992 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA279769500 rs775522622 |
992 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1191312297 CA395333395 |
994 | H>N | No |
ClinGen gnomAD |
|
|
CA7979218 rs767621255 |
994 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191312297 CA395333391 |
994 | H>Y | No |
ClinGen gnomAD |
|
|
rs759641774 CA7979217 |
999 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1361286256 CA395333290 |
1002 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1004 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395333241 rs1275263552 |
1005 | T>I | No |
ClinGen gnomAD |
|
|
CA395333215 rs1330958897 |
1008 | T>S | No |
ClinGen TOPMed |
|
|
CA279769301 rs745608771 |
1016 | K>E | No |
ClinGen Ensembl |
|
|
rs374489030 CA7979196 |
1016 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7979194 rs199516479 |
1019 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7979195 rs763302104 |
1019 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1201267346 CA395333057 |
1021 | A>V | No |
ClinGen gnomAD |
|
|
rs1596769843 CA395333054 |
1022 | M>V | No |
ClinGen Ensembl |
|
|
rs768619284 CA7979193 |
1023 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966119176 CA395333023 CA279769288 |
1024 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395332995 rs1439188796 |
1027 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
VAR_048961 CA279769250 rs14672 |
1029 | V>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7979186 rs574810972 |
1049 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7979184 rs777315948 |
1051 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1371354187 CA395332654 |
1057 | D>E | No |
ClinGen gnomAD |
|
|
CA7979183 rs756433639 |
1057 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA395332608 rs1292672455 |
1061 | F>Y | No |
ClinGen gnomAD |
|
|
CA7979182 rs753066843 |
1063 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753066843 CA279769200 |
1063 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011203981 CA279769197 |
1064 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1064 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395332547 rs1185742602 |
1067 | P>L | No |
ClinGen TOPMed |
|
|
rs1175672309 CA395332470 |
1073 | C>F | No |
ClinGen gnomAD |
|
|
CA395332473 rs1175672309 |
1073 | C>Y | No |
ClinGen gnomAD |
|
|
CA279769190 rs776038329 |
1074 | D>G | No |
ClinGen Ensembl |
|
|
CA279769179 rs1011239793 |
1081 | K>* | No |
ClinGen TOPMed |
|
|
rs1369176215 CA395332338 |
1084 | L>V | No |
ClinGen TOPMed |
|
|
rs763062981 CA395332331 |
1085 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763062981 CA7979177 |
1085 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA7979176 rs750607548 |
1086 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs892836058 CA279769174 |
1086 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1189799819 CA395332270 |
1090 | M>I | No |
ClinGen gnomAD |
|
|
rs760476887 CA7979174 |
1092 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760476887 CA395332255 |
1092 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376151934 CA7979175 |
1092 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755538321 CA279767048 |
1094 | L>V | No |
ClinGen Ensembl |
|
|
CA7979137 rs757535374 |
1100 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1177586794 CA395331635 |
1103 | R>G | No |
ClinGen gnomAD |
|
|
rs372290520 CA7979135 |
1103 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754737839 CA7979134 |
1103 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395331623 rs1434769999 |
1104 | L>V | No |
ClinGen gnomAD |
|
|
CA395331609 rs1210225135 |
1105 | V>G | No |
ClinGen gnomAD |
|
|
rs1366402130 CA395331601 |
1106 | N>S | No |
ClinGen gnomAD |
|
|
CA7979132 rs766328345 |
1107 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1107 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7979131 rs762866348 |
1109 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354468069 CA395331564 |
1110 | Y>H | No |
ClinGen gnomAD |
|
|
CA395331544 rs1308705671 |
1112 | R>I | No |
ClinGen gnomAD |
|
|
rs1444824676 CA395331540 |
1113 | L>V | No |
ClinGen gnomAD |
|
|
rs1324546465 CA395331518 |
1116 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395331510 rs1386597897 |
1117 | S>G | No |
ClinGen gnomAD |
|
|
rs764776315 CA7979129 |
1117 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA395331494 rs1291126327 |
1119 | P>L | No |
ClinGen gnomAD |
|
|
CA395331491 rs1454796406 |
1120 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7979125 rs761040404 |
1125 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA279766920 rs941392867 |
1125 | L>P | No |
ClinGen Ensembl |
|
|
CA395331453 rs1596762514 |
1126 | L>W | No |
ClinGen Ensembl |
No associated diseases with Q96QU8
7 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. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear export signal receptor activity | Combining with a nuclear export signal (NES) on a cargo to be transported, to mediate transport of a the cargo through the nuclear pore, from the nuclear lumen to the cytoplasm. The cargo can be either a RNA or a protein. |
| small GTPase binding | Binding to a small monomeric GTPase. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein export from nucleus | The directed movement of a protein from the nucleus into the cytoplasm. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASEEASLRA | LESLMTEFFH | DCTTNERKRE | IEELLNNFAQ | QIGAWRFCLY | FLSSTRNDYV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MMYSLTVFEN | LINKMWLGVP | SQDKMEIRSC | LPKLLLAHHK | TLPYFIRNKL | CKVIVDIGRQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DWPMFYHDFF | TNILQLIQSP | VTTPLGLIML | KTTSEELACP | REDLSVARKE | ELRKLLLDQV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QTVLGLLTGI | LETVWDKHSV | TAATPPPSPT | SGESGDLLSN | LLQSPSSAKL | LNQPIPILDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESEYICSLAL | ECLAHLFSWI | PLSASITPSL | LTTIFHFARF | GCDIRARKMA | SVNGSSQNCV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SGQERGRLGV | LAMSCINELM | SKNCVPMEFE | EYLLRMFQQT | FYLLQKITKD | NNAHTVKSRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EELDESYIEK | FTDFLRLFVS | VHLRRIESYS | QFPVVEFLTL | LFKYTFHQPT | HEGYFSCLDI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WTLFLDYLTS | KIKSRLGDKE | AVLNRYEDAL | VLLLTEVLNR | IQFRYNQAQL | EELDDETLDD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DQQTEWQRYL | RQSLEVVAKV | MELLPTHAFS | TLFPVLQDNL | EVYLGLQQFI | VTSGSGHRLN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ITAENDCRRL | HCSLRDLSSL | LQAVGRLAEY | FIGDVFAARF | NDALTVVERL | VKVTLYGSQI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KLYNIETAVP | SVLKPDLIDV | HAQSLAALQA | YSHWLAQYCS | EVHRQNTQQF | VTLISTTMDA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ITPLISTKVQ | DKLLLSACHL | LVSLATTVRP | VFLISIPAVQ | KVFNRITDAS | ALRLVDKAQV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LVCRALSNIL | LLPWPNLPEN | EQQWPVRSIN | HASLISALSR | DYRNLKPSAV | APQRKMPLDD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TKLIIHQTLS | VLEDIVENIS | GESTKSRQIC | YQSLQESVQV | SLALFPAFIH | QSDVTDEMLS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FFLTLFRGLR | VQMGVPFTEQ | IIQTFLNMFT | REQLAESILH | EGSTGCRVVE | KFLKILQVVV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QEPGQVFKPF | LPSIIALCME | QVYPIIAERP | SPDVKAELFE | LLFRTLHHNW | RYFFKSTVLA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SVQRGIAEEQ | MENEPQFSAI | MQAFGQSFLQ | PDIHLFKQNL | FYLETLNTKQ | KLYHKKIFRT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AMLFQFVNVL | LQVLVHKSHD | LLQEEIGIAI | YNMASVDFDG | FFAAFLPEFL | TSCDGVDANQ |
| 1090 | 1100 | 1110 | 1120 | ||
| KSVLGRNFKM | DRDLPSFTQN | VHRLVNDLRY | YRLCNDSLPP | GTVKL |