A5PLK6
PR
Gene name |
RGSL1 (RGSL, RGSL2) |
Protein name |
Regulator of G-protein signaling protein-like |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:353299 |
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 A5PLK6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A5PLK6-F1 | Predicted | AlphaFoldDB |
801 variants for A5PLK6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA343639674 rs1243069925 |
2 | S>N | No |
ClinGen gnomAD |
|
|
rs1019871324 CA33887120 |
2 | S>R | No |
ClinGen TOPMed |
|
|
CA1277454 rs750512973 |
3 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031546168 CA33887125 |
3 | S>R | No |
ClinGen Ensembl |
|
|
CA1277455 rs368344415 |
4 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12083859 VAR_046356 CA1277464 |
5 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200032887 CA33887139 |
5 | E>K | No |
ClinGen gnomAD |
|
|
rs1558214970 CA343629242 |
7 | I>S | No |
ClinGen Ensembl |
|
|
CA343629252 rs1474762042 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369253576 CA1277465 |
10 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771829309 CA343629305 |
10 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771829309 CA1277466 |
10 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343629353 rs1432139015 |
12 | L>R | No |
ClinGen gnomAD |
|
|
rs375730928 CA1277467 |
13 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs550604819 CA33835302 |
13 | I>T | No |
ClinGen gnomAD |
|
|
rs1325694234 CA343629422 |
16 | L>P | No |
ClinGen gnomAD |
|
|
CA343629502 rs1298413815 |
22 | A>T | No |
ClinGen gnomAD |
|
|
rs41299607 CA343629514 |
23 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1277469 rs41299607 |
23 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455088831 CA343629564 |
26 | N>K | No |
ClinGen TOPMed |
|
|
CA33835329 rs267598222 |
30 | S>F | No |
ClinGen Ensembl |
|
|
CA343629588 rs1392826205 |
30 | S>P | No |
ClinGen gnomAD |
|
|
rs1359838577 CA343629592 |
31 | L>V | No |
ClinGen gnomAD |
|
|
CA33835338 rs547793483 |
32 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs547793483 CA33835334 |
32 | P>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA33838235 rs531737920 |
35 | G>D | No |
ClinGen 1000Genomes |
|
|
rs1349563013 CA343630619 |
35 | G>S | No |
ClinGen gnomAD |
|
|
rs1208908209 CA343630651 |
37 | T>I | No |
ClinGen gnomAD |
|
|
rs1433764885 CA343630655 |
38 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA33838236 rs1024079015 |
38 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1433764885 CA343630656 |
38 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1571466859 CA343630680 |
41 | T>I | No |
ClinGen Ensembl |
|
|
CA1277477 rs750160677 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343630742 rs1558225678 |
50 | W>G | No |
ClinGen Ensembl |
|
|
rs972976698 CA33838240 |
53 | I>T | No |
ClinGen Ensembl |
|
|
CA343630782 rs1485093183 |
55 | C>W | No |
ClinGen TOPMed |
|
|
rs969494646 CA33838247 |
57 | L>F | No |
ClinGen TOPMed |
|
|
CA343630814 rs1483894452 |
58 | I>T | No |
ClinGen gnomAD |
|
|
COSM900633 CA343630817 rs1202653353 |
59 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs199966529 CA1277485 |
60 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770678434 CA1277486 |
61 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs747268917 CA1277487 |
62 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs551932979 CA33839425 |
63 | G>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1479560858 CA343630846 |
63 | G>R | No |
ClinGen gnomAD |
|
|
CA343630848 rs551932979 |
63 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs207460741 CA33839436 |
64 | L>* | No |
ClinGen Ensembl |
|
|
rs1467548612 CA343630876 |
67 | W>C | No |
ClinGen gnomAD |
|
|
CA343630883 rs1296309280 |
68 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 71 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1277490 rs192452736 |
72 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277491 rs745895536 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769973873 CA1277492 |
74 | P>S | No |
ClinGen ExAC |
|
|
CA343630933 rs1403931074 |
76 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763553093 CA1277494 |
78 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA343630972 rs1313400321 |
79 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343631232 rs1202750351 |
86 | I>L | No |
ClinGen gnomAD |
|
|
CA33839481 rs963180740 |
86 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1342068234 CA343631252 |
87 | L>I | No |
ClinGen gnomAD |
|
|
CA33839493 rs957843436 |
90 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs993347344 CA33839488 |
90 | E>K | No |
ClinGen Ensembl |
|
|
CA343631341 rs1444167717 |
93 | S>G | No |
ClinGen TOPMed |
|
|
CA343631351 rs1254386683 |
93 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA33839498 rs769954032 |
94 | F>L | No |
ClinGen Ensembl |
|
|
CA343631448 rs1200082247 |
98 | P>S | No |
ClinGen TOPMed |
|
|
CA33839505 rs1026588078 |
100 | G>R | No |
ClinGen Ensembl |
|
|
rs1190786851 CA343631495 |
100 | G>V | No |
ClinGen gnomAD |
|
|
rs756334267 CA1277541 |
101 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343634401 rs1558257054 |
103 | E>D | No |
ClinGen Ensembl |
|
|
rs1181621008 CA343634425 |
105 | V>E | No |
ClinGen gnomAD |
|
|
CA343634419 rs1325639437 |
105 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs780291172 CA343634471 |
108 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs780291172 CA1277543 |
108 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA343634493 rs1298176564 |
110 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343634565 rs1360087433 |
115 | L>P | No |
ClinGen TOPMed |
|
|
rs1571509373 CA343634619 |
119 | E>A | No |
ClinGen Ensembl |
|
|
rs866012828 CA33849248 |
119 | E>K | No |
ClinGen Ensembl |
|
|
rs867848758 CA33849255 |
120 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343634656 rs1356673809 |
121 | D>E | No |
ClinGen gnomAD |
|
|
rs1473837166 CA343634651 |
121 | D>G | No |
ClinGen gnomAD |
|
|
rs1283352479 CA343634645 |
121 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33849288 rs990874029 |
124 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA33849285 rs990874029 |
124 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs779340574 CA1277546 |
125 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208794775 CA343634698 |
125 | R>K | No |
ClinGen gnomAD |
|
|
rs962830762 CA343634808 |
133 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs962830762 CA33849330 |
133 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1409871222 CA343634812 |
133 | L>P | No |
ClinGen gnomAD |
|
|
CA343634836 rs1321294608 |
135 | L>P | No |
ClinGen gnomAD |
|
|
CA33849336 rs1052033869 |
137 | A>S | No |
ClinGen TOPMed |
|
|
rs1394197253 CA343634868 |
138 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs745534171 CA1277551 |
139 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343634897 rs769388157 |
140 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1277552 rs769388157 |
140 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA33849349 rs974237839 |
141 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA33849362 rs943749693 |
143 | G>V | No |
ClinGen TOPMed |
|
|
rs1228510054 CA343634965 |
146 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1446297322 CA343634976 |
147 | V>I | No |
ClinGen TOPMed |
|
|
CA33849377 rs918823974 |
148 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs918823974 CA343634992 |
148 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343635051 rs1255911824 |
152 | M>I | No |
ClinGen gnomAD |
|
|
rs1199207627 CA343635045 |
152 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs192789745 CA1277554 |
153 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277555 rs763637215 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1002102060 CA33850308 |
156 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1459050688 CA343635629 |
158 | L>P | No |
ClinGen TOPMed |
|
|
rs1055462363 CA33850311 |
160 | L>P | No |
ClinGen TOPMed |
|
|
CA343635640 rs1484250147 |
160 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343635648 rs1183118321 |
161 | S>C | No |
ClinGen gnomAD |
|
|
CA33850325 rs893800473 |
163 | W>C | No |
ClinGen TOPMed |
|
|
rs1252770946 CA343635667 |
164 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343635685 rs761803004 |
166 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467499096 CA343635708 |
170 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1277559 rs200412649 |
171 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537026405 CA1277560 |
172 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277561 rs756422336 |
173 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA33850345 rs201415463 |
173 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 173 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3385514 rs1309410666 CA343635760 |
178 | M>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768739926 CA33850352 |
179 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1385803054 CA343635779 |
180 | K>R | No |
ClinGen gnomAD |
|
|
CA33850364 rs555376894 |
181 | V>A | No |
ClinGen 1000Genomes |
|
|
CA1277562 rs377499617 |
181 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237083973 CA343635787 |
182 | A>T | No |
ClinGen gnomAD |
|
|
CA33850407 rs1047542160 |
183 | L>Q | No |
ClinGen Ensembl |
|
|
rs755073308 CA1277564 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343635815 rs1469108083 |
186 | L>H | No |
ClinGen gnomAD |
|
|
rs1341825270 CA343635829 |
188 | S>N | No |
ClinGen gnomAD |
|
|
CA343635850 rs1192970203 |
190 | W>C | No |
ClinGen gnomAD |
|
|
rs1253368907 CA343635853 |
191 | L>F | No |
ClinGen gnomAD |
|
|
CA343635855 rs1441917372 |
191 | L>P | No |
ClinGen TOPMed |
|
|
CA1277565 rs779048260 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748608535 CA1277566 |
193 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA343635865 rs1360178068 |
193 | N>S | No |
ClinGen TOPMed |
|
|
CA33850433 rs866632320 |
194 | F>V | No |
ClinGen Ensembl |
|
|
CA343635877 rs1268081167 |
195 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343635885 rs1558260808 |
196 | T>A | No |
ClinGen Ensembl |
|
|
rs758846576 CA1277567 |
197 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA343635892 rs1571513205 |
197 | H>P | No |
ClinGen Ensembl |
|
|
rs1170253575 CA343635923 |
201 | T>N | No |
ClinGen gnomAD |
|
|
CA343635922 rs1449913836 |
201 | T>P | No |
ClinGen gnomAD |
|
|
rs1347802917 CA343635932 |
202 | M>I | No |
ClinGen gnomAD |
|
|
CA1277568 rs778133496 |
204 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293629130 COSM900635 CA343635980 |
209 | H>Y | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1240798496 CA343635989 |
210 | G>D | No |
ClinGen Ensembl |
|
|
CA343636003 rs1405715372 |
212 | M>I | No |
ClinGen TOPMed |
|
|
CA343636001 rs1392210971 |
212 | M>T | No |
ClinGen gnomAD |
|
|
rs773748257 CA343636029 CA343636028 |
215 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1277569 rs573789337 |
216 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365092991 CA343636038 |
217 | T>A | No |
ClinGen gnomAD |
|
|
CA343636042 rs1414081627 |
217 | T>I | No |
ClinGen gnomAD |
|
|
CA343636045 rs1208223371 |
218 | R>C | No |
ClinGen TOPMed |
|
|
COSM3723370 CA33850474 rs187330891 |
218 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
CA343636047 rs187330891 |
218 | R>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA343636056 rs1298156539 |
220 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343636064 rs1241707172 |
221 | S>G | No |
ClinGen TOPMed |
|
|
rs201581081 CA343636072 |
222 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM424757 CA1277571 rs201581081 |
222 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1315210226 CA343636099 |
226 | H>D | No |
ClinGen TOPMed |
|
|
rs368015774 CA33850480 |
226 | H>R | No |
ClinGen TOPMed |
|
|
CA343636109 rs1375075453 |
227 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33850482 rs778192842 |
231 | P>L | No |
ClinGen Ensembl |
|
|
CA33850502 rs998528158 |
235 | S>N | No |
ClinGen Ensembl |
|
|
rs1298821821 CA343636172 |
237 | K>E | No |
ClinGen TOPMed |
|
|
CA343636192 rs1343576666 |
239 | C>F | No |
ClinGen TOPMed |
|
|
rs748954974 CA1277572 |
240 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343636203 rs1571513774 |
241 | H>D | No |
ClinGen Ensembl |
|
|
CA1277573 rs768115741 |
241 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA343636234 rs142698138 |
245 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142698138 CA1277575 |
245 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277574 rs202198386 |
245 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343636249 rs1558261542 |
247 | S>L | No |
ClinGen Ensembl |
|
|
CA343636245 rs1164958677 |
247 | S>P | No |
ClinGen gnomAD |
|
|
rs983784635 CA33850549 |
248 | S>C | No |
ClinGen TOPMed |
|
|
CA33850568 rs992548980 |
250 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343636306 rs1571513907 |
255 | M>I | No |
ClinGen Ensembl |
|
|
CA1277577 CA343636315 rs647224 VAR_046357 |
256 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
CA33850580 rs112245767 |
256 | W>R | No |
ClinGen Ensembl |
|
|
rs969846431 CA33850607 |
259 | V>G | No |
ClinGen Ensembl |
|
|
rs1259683088 CA343636342 |
260 | D>E | No |
ClinGen TOPMed |
|
|
CA343636344 rs1215640113 |
261 | P>T | No |
ClinGen TOPMed |
|
|
CA343636362 rs1313778670 |
263 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs374985240 CA1277580 |
263 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343636397 rs1226698477 |
268 | M>I | No |
ClinGen gnomAD |
|
|
rs1337223530 CA343636393 |
268 | M>L | No |
ClinGen gnomAD |
|
|
rs367949054 CA1277581 |
269 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs920504759 CA33850670 |
272 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs111366670 CA1277582 |
273 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531534371 CA1277583 |
274 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1482773646 CA343636462 |
278 | P>T | No |
ClinGen gnomAD |
|
|
CA343636470 rs1259229190 |
279 | L>P | No |
ClinGen gnomAD |
|
|
rs1471392560 CA343636473 |
280 | Q>* | No |
ClinGen gnomAD |
|
|
rs1471392560 CA343636472 |
280 | Q>E | No |
ClinGen gnomAD |
|
|
CA343636474 rs1224471033 |
280 | Q>P | No |
ClinGen gnomAD |
|
|
CA343636494 rs1412005081 |
283 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343636498 rs1458289245 |
283 | C>Y | No |
ClinGen TOPMed |
|
|
rs758936484 CA343636504 |
284 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1277584 rs758936484 |
284 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1247314490 CA343636503 |
284 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343636513 rs1161836793 |
285 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33850716 rs1055030469 |
286 | E>Q | No |
ClinGen TOPMed |
|
|
CA343636539 rs1465914977 |
289 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343636538 rs1465914977 |
289 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343636537 rs1333821124 |
289 | V>F | No |
ClinGen TOPMed |
|
|
CA343636535 rs1333821124 |
289 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343636567 rs1303762709 |
293 | P>S | No |
ClinGen gnomAD |
|
|
CA33850739 rs1010906234 |
294 | S>C | No |
ClinGen TOPMed |
|
|
CA343636579 COSM1336929 rs1191271487 |
295 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs561705671 CA33850740 |
298 | A>T | No |
ClinGen 1000Genomes |
|
|
rs770024316 CA33850744 |
299 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199729692 CA33850764 |
305 | I>N | No |
ClinGen gnomAD |
|
|
rs1469257784 CA343636680 |
310 | K>R | No |
ClinGen TOPMed |
|
|
rs1225407734 CA343636688 |
311 | D>G | No |
ClinGen gnomAD |
|
|
CA343636686 rs1392247883 |
311 | D>Y | No |
ClinGen gnomAD |
|
|
CA1277586 rs369577622 |
312 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs944109368 CA33850772 |
312 | M>T | No |
ClinGen TOPMed |
|
|
rs1311501885 CA343636699 |
313 | H>N | No |
ClinGen gnomAD |
|
|
CA343636703 rs1167699798 |
313 | H>R | No |
ClinGen gnomAD |
|
|
CA343636744 rs1334577034 |
319 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 322 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343636776 rs1180917374 |
323 | K>E | No |
ClinGen gnomAD |
|
|
CA343636779 rs1394113417 |
323 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs899943293 CA33850825 |
326 | S>G | No |
ClinGen TOPMed |
|
|
rs775954543 CA33850840 |
330 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775954543 CA343636829 |
330 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA33850834 rs997007774 |
330 | M>V | No |
ClinGen Ensembl |
|
|
CA1277588 rs372870777 |
331 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33850848 rs867909353 |
331 | E>K | No |
ClinGen Ensembl |
|
|
rs763318984 CA33850850 |
335 | E>D | No |
ClinGen Ensembl |
|
|
CA343636872 rs1400699357 |
337 | K>Q | No |
ClinGen TOPMed |
|
|
CA343636917 rs1460092389 |
343 | R>S | No |
ClinGen TOPMed |
|
|
rs760302114 CA33850862 |
346 | I>T | No |
ClinGen Ensembl |
|
|
CA343636940 rs1571514970 |
347 | P>L | No |
ClinGen Ensembl |
|
|
rs1455187127 CA343636943 |
348 | I>L | No |
ClinGen TOPMed |
|
|
rs375804603 CA1277590 |
348 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865849616 CA33850866 |
352 | S>F | No |
ClinGen gnomAD |
|
|
CA343636982 rs1192279481 |
354 | K>E | No |
ClinGen TOPMed |
|
|
rs147419839 CA33850872 |
354 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA343636985 rs1444505010 |
354 | K>R | No |
ClinGen gnomAD |
|
|
CA33850884 rs1013898518 |
357 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343637028 rs1219696801 |
360 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343637030 rs1219696801 |
360 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343637033 rs1305358055 |
361 | I>V | No |
ClinGen gnomAD |
|
|
rs61737272 CA1277592 |
362 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439166449 CA343637056 |
364 | S>N | No |
ClinGen gnomAD |
|
|
rs1301369087 CA343637097 |
370 | I>V | No |
ClinGen TOPMed |
|
|
CA343637113 rs1269938742 |
372 | L>S | No |
ClinGen gnomAD |
|
|
CA33850935 rs973209023 |
373 | A>V | No |
ClinGen Ensembl |
|
|
CA343637130 rs1397289086 |
375 | C>S | No |
ClinGen gnomAD |
|
|
CA1277595 rs760689280 |
377 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343637145 rs760689280 |
377 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168318065 CA343637153 |
378 | A>T | No |
ClinGen gnomAD |
|
|
CA33850959 rs996787043 |
380 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 380 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343637170 rs1411818201 |
381 | G>R | No |
ClinGen gnomAD |
|
|
rs1321703175 CA343637176 |
382 | N>H | No |
ClinGen gnomAD |
|
|
rs1558263477 CA343637180 COSM1689359 |
382 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs796651047 CA343637185 |
383 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA33850997 rs796651047 |
383 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343637199 rs770638378 |
385 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1277596 rs770638378 |
385 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983788233 CA33850998 |
385 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA343637213 rs1176667084 |
387 | H>P | No |
ClinGen Ensembl |
|
|
CA343637228 rs1362935580 |
389 | K>N | No |
ClinGen gnomAD |
|
|
CA33851009 rs908192948 |
391 | L>R | No |
ClinGen TOPMed |
|
|
CA343637255 rs1270531817 |
393 | L>F | No |
ClinGen gnomAD |
|
|
CA343637250 rs1227447326 |
393 | L>V | No |
ClinGen gnomAD |
|
|
CA1277597 rs776431759 |
396 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1250316282 CA343637294 |
399 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 399 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373093742 CA33851080 |
401 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA33851088 rs976780916 |
403 | W>R | No |
ClinGen Ensembl |
|
|
COSM1336933 CA343637327 rs1188197074 |
404 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343637325 rs1188197074 |
404 | Q>K | No |
ClinGen gnomAD |
|
|
CA343637347 rs1215005111 |
406 | L>F | No |
ClinGen gnomAD |
|
|
rs649437 CA343637341 |
406 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1255521743 CA343637348 |
407 | Q>K | No |
ClinGen gnomAD |
|
|
CA33851106 rs927728231 |
407 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA33851110 rs937857938 |
409 | F>S | No |
ClinGen TOPMed |
|
|
CA33851136 rs1043211083 |
410 | L>V | No |
ClinGen TOPMed |
|
|
rs1373954443 CA343637376 |
411 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343637377 rs1373954443 |
411 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1334922167 CA343637378 |
411 | S>N | No |
ClinGen TOPMed |
|
|
CA33851174 rs1053761177 |
415 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs35418081 CA1277600 |
415 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343637419 rs1413323705 |
417 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343637434 rs1462091289 |
419 | N>S | No |
ClinGen gnomAD |
|
|
CA343637459 rs1386425941 |
423 | I>V | No |
ClinGen gnomAD |
|
|
CA343637472 rs1434220097 |
424 | F>L | No |
ClinGen gnomAD |
|
|
CA33851176 COSM1689367 rs896098429 |
425 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs145015476 CA1277602 |
425 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145015476 CA343637475 |
425 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1277603 rs199528371 |
427 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042346473 CA33851221 |
429 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343637517 rs1234644728 |
432 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs994555156 CA33851232 |
433 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA33851227 rs905582494 |
433 | C>S | No |
ClinGen Ensembl |
|
|
CA343637535 rs1208572717 |
434 | E>D | No |
ClinGen gnomAD |
|
|
rs1327737019 CA343637529 |
434 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1262882033 CA343637537 COSM1601345 |
435 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343637558 rs1449153729 |
438 | N>D | No |
ClinGen gnomAD |
|
|
rs1571516375 CA343637564 |
439 | E>K | No |
ClinGen Ensembl |
|
|
CA1277604 rs555340145 |
441 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237158027 CA343637589 |
442 | G>D | No |
ClinGen gnomAD |
|
|
CA1277605 rs781421036 |
443 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781421036 CA33851243 |
443 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1277607 rs754614185 |
446 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA343637632 rs1159022759 |
449 | S>P | No |
ClinGen gnomAD |
|
|
CA343637645 rs1558264810 |
451 | T>A | No |
ClinGen Ensembl |
|
|
rs1019268468 CA33851281 |
454 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA33851289 rs976708645 |
457 | E>K | No |
ClinGen Ensembl |
|
|
rs1327628103 CA343637693 |
458 | L>P | No |
ClinGen TOPMed |
|
|
rs1327628103 CA343637694 |
458 | L>R | No |
ClinGen TOPMed |
|
|
rs1355718892 CA343637704 |
460 | P>L | No |
ClinGen gnomAD |
|
|
rs771777733 CA1277610 |
460 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1416197247 CA343637716 |
462 | G>E | No |
ClinGen gnomAD |
|
|
rs1329952458 CA343637713 |
462 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777353849 CA1277611 |
463 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761874156 CA343637720 |
463 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343637722 rs777353849 |
463 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761874156 CA33851302 |
463 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs746959173 CA343637729 |
464 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1277612 rs746959173 |
464 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1166361702 CA343637725 |
464 | V>M | No |
ClinGen TOPMed |
|
|
rs767639481 CA33851364 |
466 | P>A | No |
ClinGen Ensembl |
|
|
CA343637751 rs1353428403 |
467 | W>C | No |
ClinGen gnomAD |
|
|
CA33851370 rs867178621 |
469 | P>S | No |
ClinGen gnomAD |
|
|
CA33851377 rs866264383 |
474 | E>K | No |
ClinGen Ensembl |
|
|
CA343637807 rs1475875139 |
475 | I>M | No |
ClinGen TOPMed |
|
|
rs1305859418 CA343637926 |
478 | M>T | No |
ClinGen gnomAD |
|
|
rs965484149 CA33862377 |
478 | M>V | No |
ClinGen TOPMed |
|
|
rs998349374 CA33862380 |
479 | L>F | No |
ClinGen Ensembl |
|
|
CA343637940 rs1369553913 |
479 | L>H | No |
ClinGen gnomAD |
|
|
CA33862391 rs944963753 |
481 | P>H | No |
ClinGen TOPMed |
|
|
CA343637983 rs1297815212 |
482 | W>C | No |
ClinGen TOPMed |
|
|
rs1391502243 CA343637973 |
482 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308490346 CA343638002 |
484 | D>N | No |
ClinGen gnomAD |
|
|
CA343638049 rs1161314196 |
487 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs867628699 CA33862397 |
489 | E>K | No |
ClinGen Ensembl |
|
|
CA343638081 rs1558292402 |
490 | E>K | No |
ClinGen Ensembl |
|
|
rs1367460816 CA343638126 |
492 | Y>* | No |
ClinGen TOPMed |
|
|
rs746080725 CA33862403 |
493 | W>* | No |
ClinGen Ensembl |
|
|
CA343638133 rs1231660512 |
493 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343638146 rs1303136465 |
494 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 495 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33862407 rs866420016 |
496 | L>F | No |
ClinGen Ensembl |
|
|
rs751578397 CA33862409 |
498 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1277621 rs751578397 |
498 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343638292 rs1228339302 |
500 | Q>* | No |
ClinGen gnomAD |
|
|
rs185515887 CA1277628 |
501 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752405044 CA1277629 |
502 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1351720580 CA343638332 |
503 | F>L | No |
ClinGen gnomAD |
|
|
rs1213137291 CA343638343 |
503 | F>L | No |
ClinGen gnomAD |
|
|
rs1558294440 CA343638346 |
504 | I>L | No |
ClinGen Ensembl |
|
|
rs1446041699 CA343638353 |
504 | I>N | No |
ClinGen TOPMed |
|
|
rs968078228 CA33862899 |
507 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1347359105 CA343638411 |
509 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA343638439 rs1558294535 |
511 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 512 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 513 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024000067 CA33862903 |
518 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777449126 CA343638564 |
519 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343638585 rs1366339471 |
521 | L>F | No |
ClinGen gnomAD |
|
|
CA343638616 rs1457033238 |
523 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1164975135 CA343638620 |
524 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1164975135 CA343638618 |
524 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1395918690 CA343638643 |
525 | R>S | No |
ClinGen gnomAD |
|
|
CA343638634 rs1482831033 |
525 | R>W | No |
ClinGen TOPMed |
|
|
rs1443693712 CA343638661 |
527 | Q>K | No |
ClinGen gnomAD |
|
|
CA343638668 rs1242306491 |
527 | Q>R | No |
ClinGen TOPMed |
|
|
CA343638686 rs1318963758 |
528 | Q>L | No |
ClinGen gnomAD |
|
|
rs1218423749 CA343638696 |
529 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 531 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558294876 CA343638724 |
531 | E>D | No |
ClinGen Ensembl |
|
|
CA1277632 rs537151894 |
533 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343638781 rs1383111421 |
537 | A>T | No |
ClinGen gnomAD |
|
|
CA33862917 rs867992260 |
537 | A>V | No |
ClinGen gnomAD |
|
|
rs756692325 CA1277633 |
539 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA343638795 rs1279283386 |
539 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343638825 rs1184169017 |
542 | M>I | No |
ClinGen gnomAD |
|
|
CA33862934 rs966652041 |
542 | M>V | No |
ClinGen TOPMed |
|
|
rs1034107575 CA343638826 |
543 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343638827 rs1034107575 |
543 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA33862939 rs1034107575 |
543 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA33862957 rs976281390 |
547 | W>C | No |
ClinGen TOPMed |
|
|
CA33862965 rs922146237 |
548 | R>Q | No |
ClinGen TOPMed |
|
|
CA343638884 rs1259940521 |
551 | A>P | No |
ClinGen gnomAD |
|
|
CA343638961 rs1486105570 |
558 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1277634 rs781239220 |
559 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1402146494 CA343638967 |
559 | G>C | No |
ClinGen TOPMed |
|
|
CA343638970 rs781239220 |
559 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1358642939 CA343638982 |
560 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 560 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343638976 rs1253695272 |
560 | S>P | No |
ClinGen gnomAD |
|
|
CA1277635 rs370485140 |
561 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370230019 CA1277637 |
563 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370230019 CA33863012 |
563 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463485046 CA343639013 |
563 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749522221 CA1277638 |
564 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749522221 CA343639024 |
564 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377273280 CA343639094 |
570 | F>L | No |
ClinGen gnomAD |
|
|
rs371759987 CA1277650 |
573 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343639297 rs1558303178 |
574 | I>L | No |
ClinGen Ensembl |
|
|
CA343639316 rs1298933782 |
575 | T>S | No |
ClinGen gnomAD |
|
|
rs1388681937 CA343639359 |
577 | M>R | No |
ClinGen TOPMed |
|
|
rs551846717 CA1277651 |
578 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343639388 rs1234739042 |
579 | F>L | No |
ClinGen gnomAD |
|
|
rs973978126 CA33865412 |
580 | E>D | No |
ClinGen gnomAD |
|
|
CA343639397 rs1481855656 |
580 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1186417096 CA343639450 |
583 | C>F | No |
ClinGen TOPMed |
|
|
rs1232911187 CA343639465 |
584 | Y>C | No |
ClinGen gnomAD |
|
|
CA343639478 rs1448717269 |
585 | K>R | No |
ClinGen TOPMed |
|
|
CA343639500 rs1481247985 |
587 | P>S | No |
ClinGen gnomAD |
|
|
rs188924884 CA1277652 |
588 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343639528 rs1393795555 |
589 | M>V | No |
ClinGen gnomAD |
|
|
CA343639571 rs1275147995 |
591 | I>T | No |
ClinGen gnomAD |
|
|
rs147316790 CA1277653 |
591 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343639661 rs1558303485 |
597 | D>G | No |
ClinGen Ensembl |
|
|
rs1449324644 CA343639655 |
597 | D>H | No |
ClinGen TOPMed |
|
|
rs1480248706 CA343639725 |
601 | Y>D | No |
ClinGen gnomAD |
|
|
rs745821177 CA1277654 |
602 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571563731 CA343639751 |
602 | C>Y | No |
ClinGen Ensembl |
|
|
CA33865454 rs950710821 |
605 | A>V | No |
ClinGen Ensembl |
|
|
CA343639820 rs1328312047 |
607 | K>I | No |
ClinGen gnomAD |
|
|
CA343639836 rs1355122976 |
608 | I>T | No |
ClinGen gnomAD |
|
|
CA33865457 rs755946198 |
609 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA343640653 rs1327672762 |
609 | D>V | No |
ClinGen gnomAD |
|
|
rs755946198 CA1277655 |
609 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1324410829 CA343640678 |
612 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 614 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1277664 rs371891578 |
616 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33843730 COSM1689371 rs865869378 |
617 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA343640744 rs1230977931 |
617 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343640749 rs1271937291 |
618 | T>S | No |
ClinGen gnomAD |
|
|
CA343640781 rs1435210764 |
620 | T>R | No |
ClinGen TOPMed |
|
|
rs1334805202 CA343640792 |
621 | V>A | No |
ClinGen gnomAD |
|
|
rs1000810091 CA33843734 |
621 | V>I | No |
ClinGen Ensembl |
|
|
rs761269595 CA1277665 |
622 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553269101 CA343640798 |
622 | S>P | No |
ClinGen Ensembl |
|
|
rs748623780 CA1277666 COSM1336938 |
623 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1277667 rs376780279 |
623 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA343640840 rs1242960321 |
626 | R>G | No |
ClinGen gnomAD |
|
|
CA1277668 rs760027327 |
626 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA343640857 rs1185938000 |
627 | K>R | No |
ClinGen gnomAD |
|
|
CA343640872 rs1417171458 |
628 | M>K | No |
ClinGen gnomAD |
|
|
CA343640903 rs1230939593 |
630 | L>S | No |
ClinGen gnomAD |
|
|
rs1190781324 CA343640933 |
633 | R>G | No |
ClinGen TOPMed |
|
|
CA343640953 rs1382690005 |
634 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343640959 rs1399934198 |
635 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA33843751 rs1010261093 |
635 | L>H | No |
ClinGen gnomAD |
|
|
rs1399934198 CA343640956 |
635 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343640963 COSM900654 rs1010261093 |
635 | L>R | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA33843754 rs932950251 |
636 | V>A | No |
ClinGen TOPMed |
|
|
CA1277669 rs765682564 |
637 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1024355276 CA33843760 |
638 | K>R | No |
ClinGen Ensembl |
|
|
rs1235331533 CA343641024 |
641 | M>I | No |
ClinGen TOPMed |
|
|
rs971896491 CA33843770 |
641 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1277670 rs540607904 COSM1689373 |
641 | M>V | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs370513220 CA33843776 |
642 | R>T | No |
ClinGen Ensembl |
|
|
CA343641042 rs773767423 |
643 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1225072354 CA343641047 |
643 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA33843781 rs773767423 |
643 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1156427314 CA343641809 |
645 | N>H | No |
ClinGen TOPMed |
|
|
rs200654801 CA33847329 |
653 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343641911 rs1248460253 |
654 | Q>* | No |
ClinGen gnomAD |
|
|
rs1428298869 CA343641929 |
655 | H>Y | No |
ClinGen gnomAD |
|
|
CA343641976 rs1365455358 |
658 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1172755075 CA343642004 |
659 | F>L | No |
ClinGen gnomAD |
|
|
rs1395327558 CA343642034 |
661 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 661 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1277678 rs778617656 |
666 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33847341 rs367955469 |
666 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1330225151 CA343642119 |
667 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 669 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112168593 CA1277679 |
670 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1266271311 CA343642191 |
673 | Q>P | No |
ClinGen TOPMed |
|
|
rs1043272772 CA33847376 |
678 | V>I | No |
ClinGen Ensembl |
|
|
rs371787481 CA33847383 |
679 | Q>* | No |
ClinGen gnomAD |
|
|
CA343642262 rs371787481 |
679 | Q>E | No |
ClinGen gnomAD |
|
|
CA343642265 rs371787481 |
679 | Q>K | No |
ClinGen gnomAD |
|
|
CA343642278 rs1338893192 |
680 | K>E | No |
ClinGen gnomAD |
|
|
CA343642290 rs1196455062 |
680 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1316045942 CA343642328 |
683 | I>T | No |
ClinGen TOPMed |
|
|
rs7535533 CA1277681 |
683 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343642341 rs1192805665 |
684 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA33847410 rs537460613 |
684 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277682 rs537460613 |
684 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343642354 rs1455316254 |
685 | T>N | No |
ClinGen gnomAD |
|
|
rs1053236609 CA33847421 |
686 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343642378 rs1372141123 |
687 | E>* | No |
ClinGen gnomAD |
|
|
CA33847425 rs867569232 |
688 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 689 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343642414 rs1169123078 |
689 | I>T | No |
ClinGen gnomAD |
|
|
CA343642438 rs1314673670 |
691 | K>* | No |
ClinGen gnomAD |
|
|
rs1403114032 CA343642445 |
691 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 692 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343642453 rs1460304595 |
692 | S>P | No |
ClinGen gnomAD |
|
|
CA33847430 rs1013989453 |
696 | N>K | No |
ClinGen Ensembl |
|
|
rs1322225076 CA343642505 |
697 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs903660407 CA33847439 |
699 | K>E | No |
ClinGen TOPMed |
|
|
CA343642547 rs1191405563 |
700 | T>A | No |
ClinGen TOPMed |
|
|
rs760115239 CA1277685 |
702 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA33847476 rs866859397 |
703 | Q>* | No |
ClinGen Ensembl |
|
|
rs1388878239 CA343642606 |
705 | Q>K | No |
ClinGen gnomAD |
|
|
CA343642642 rs1326048160 |
707 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33849133 rs1053883474 |
710 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1277691 rs200119323 |
711 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343643771 rs1409576752 |
712 | L>P | No |
ClinGen TOPMed |
|
|
rs1336358170 CA343643790 |
714 | C>R | No |
ClinGen TOPMed |
|
|
rs1336358170 CA343643789 |
714 | C>S | No |
ClinGen TOPMed |
|
|
rs1014132932 CA33849174 |
717 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1232745853 CA343643830 |
717 | P>T | No |
ClinGen gnomAD |
|
|
CA1277694 rs754856726 |
722 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868564829 CA33849176 |
722 | I>T | No |
ClinGen Ensembl |
|
|
rs376458323 COSM3740851 CA1277695 |
723 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs751742483 CA33849202 |
723 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1277697 rs146321650 |
726 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184518879 CA1277698 |
726 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1277696 rs146321650 |
726 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474634752 CA343643960 |
727 | H>Y | No |
ClinGen gnomAD |
|
|
CA1277700 rs771203189 |
730 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343644016 rs1426028340 |
732 | T>A | No |
ClinGen gnomAD |
|
|
CA33849209 rs1033024649 |
732 | T>I | No |
ClinGen TOPMed |
|
|
rs959590959 CA33849215 |
734 | L>I | No |
ClinGen Ensembl |
|
|
CA1277701 rs202037903 |
735 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343644088 rs1420676327 COSM1601347 |
738 | G>E | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1228196623 CA343644084 |
738 | G>R | No |
ClinGen TOPMed |
|
|
rs1300352182 CA343644099 |
739 | H>R | No |
ClinGen gnomAD |
|
|
rs865834486 CA33849226 |
741 | M>I | No |
ClinGen Ensembl |
|
|
rs1373834618 CA343644124 |
741 | M>K | No |
ClinGen gnomAD |
|
|
rs1414297631 CA343644157 |
743 | S>C | No |
ClinGen gnomAD |
|
|
CA343644172 rs1571666752 |
744 | I>M | No |
ClinGen Ensembl |
|
|
rs1313507837 CA343644170 |
744 | I>T | No |
ClinGen gnomAD |
|
|
rs1018159052 CA33849488 |
748 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 749 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33849495 rs986817808 |
750 | K>Q | No |
ClinGen TOPMed |
|
|
rs772793647 CA1277707 |
751 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA343644331 rs1203098677 |
752 | Y>H | No |
ClinGen TOPMed |
|
|
CA1277708 rs76076926 |
754 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300927371 CA343644399 |
757 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343644407 rs1328165132 |
758 | P>R | No |
ClinGen TOPMed |
|
|
rs765891144 CA343644402 |
758 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1277709 rs765891144 |
758 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144974547 CA343644410 |
759 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147958249 CA1277711 |
759 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144974547 CA1277710 |
759 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343644430 rs1305323892 |
760 | H>R | No |
ClinGen gnomAD |
|
|
rs1376505878 CA343644455 |
762 | E>K | No |
ClinGen TOPMed |
|
|
CA33849520 rs945035520 |
763 | V>A | No |
ClinGen Ensembl |
|
|
rs1203167943 CA343644492 |
765 | V>M | No |
ClinGen gnomAD |
|
|
rs1232859094 CA343644530 |
767 | S>R | No |
ClinGen gnomAD |
|
|
rs1458567397 CA343644618 |
772 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1161944324 CA343644645 |
774 | R>K | No |
ClinGen TOPMed |
|
|
rs1455987926 CA343644659 |
774 | R>S | No |
ClinGen TOPMed |
|
|
CA343644718 rs1251452541 |
777 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA33849549 rs754464347 |
778 | K>R | No |
ClinGen TOPMed |
|
|
CA343644740 rs1454006417 |
779 | I>M | No |
ClinGen gnomAD |
|
|
rs535169789 CA33849551 |
779 | I>V | No |
ClinGen Ensembl |
|
|
rs530159990 CA343644758 |
782 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1277712 rs530159990 |
782 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374158128 CA1277713 |
783 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867704845 COSM1689375 CA33849567 |
786 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA33850794 rs1019801314 |
791 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1277718 rs781442184 |
793 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA343645000 rs1453619934 |
793 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745901690 CA1277719 |
797 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs186526736 CA33850816 |
799 | I>F | No |
ClinGen 1000Genomes |
|
|
CA33850817 rs1046421357 |
799 | I>T | No |
ClinGen TOPMed |
|
|
CA343645106 rs1325223813 |
800 | R>K | No |
ClinGen gnomAD |
|
|
CA33850829 rs541393859 |
800 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1424957318 CA343645115 |
801 | S>N | No |
ClinGen TOPMed |
|
|
CA343645147 rs1278293494 |
803 | C>S | No |
ClinGen gnomAD |
|
|
CA1277720 rs545939376 |
806 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277721 rs377205207 |
806 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774975226 CA33850841 |
808 | F>L | No |
ClinGen TOPMed |
|
|
CA343645236 rs1292024936 |
809 | M>T | No |
ClinGen gnomAD |
|
|
rs1229277000 CA343645293 |
812 | P>R | No |
ClinGen gnomAD |
|
|
CA33850852 rs866007219 |
812 | P>S | No |
ClinGen Ensembl |
|
|
CA343645345 rs1445505500 |
815 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343645348 rs1215402820 |
815 | R>H | Variant assessed as Somatic; 0.0001181 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1277722 rs749785169 |
817 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1277723 rs768965905 |
820 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489333868 CA343645448 |
820 | D>H | No |
ClinGen gnomAD |
|
|
rs367804901 CA1277724 |
821 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867937808 CA33850882 |
823 | H>Y | No |
ClinGen Ensembl |
|
|
CA1277726 rs140214137 |
824 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343645584 rs1298473766 |
826 | M>I | No |
ClinGen gnomAD |
|
|
rs1027953849 CA33856781 |
834 | T>I | No |
ClinGen Ensembl |
|
|
CA343646464 rs1310365459 |
839 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA33856807 rs999982008 |
839 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343646463 rs1310365459 |
839 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756204279 COSM1717526 CA1277738 |
840 | S>L | ovary NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1345854672 CA343646481 |
842 | R>C | No |
ClinGen gnomAD |
|
|
CA1277739 rs780175732 |
842 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33856825 rs867056246 |
844 | A>P | No |
ClinGen TOPMed |
|
|
CA33856815 rs867056246 |
844 | A>T | No |
ClinGen TOPMed |
|
|
rs867638563 CA33856833 |
845 | P>L | No |
ClinGen Ensembl |
|
|
rs1345847499 CA343646496 |
845 | P>S | No |
ClinGen TOPMed |
|
|
CA33856862 rs988729943 |
846 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 848 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343646515 rs1344869037 |
848 | T>R | No |
ClinGen TOPMed |
|
|
CA1277742 rs200458238 |
851 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755466579 COSM1317603 CA1277741 |
851 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs188214324 CA1277743 |
852 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343646542 rs1377842544 |
853 | A>S | No |
ClinGen gnomAD |
|
|
rs1165596759 CA343646558 |
855 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 856 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394975539 CA343646574 |
857 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA33856893 rs1046395667 |
858 | G>R | No |
ClinGen Ensembl |
|
|
rs1029273387 CA33856909 |
859 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA33856915 rs905195551 |
861 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA33856921 rs938083574 |
863 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772405024 CA1277744 |
865 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs193256196 COSM3376869 CA1277745 |
865 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1277746 rs565665542 |
866 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1199136679 CA343646635 |
867 | I>M | No |
ClinGen gnomAD |
|
|
rs1016585219 CA33856969 |
867 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343646670 rs1259882538 |
872 | I>T | No |
ClinGen gnomAD |
|
|
CA33856975 rs1015842541 |
873 | I>M | No |
ClinGen Ensembl |
|
|
rs1461900033 CA343646681 |
874 | T>I | No |
ClinGen TOPMed |
|
|
CA343646680 rs1467026119 |
874 | T>S | No |
ClinGen gnomAD |
|
|
CA1277747 rs769193141 |
875 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201924785 CA343646685 |
875 | V>L | No |
ClinGen TOPMed |
|
|
CA343646695 rs1267631413 |
876 | N>K | No |
ClinGen gnomAD |
|
|
CA343646708 rs901465686 |
878 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 878 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33857000 rs901465686 |
878 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343646714 rs1395907586 |
879 | I>T | No |
ClinGen gnomAD |
|
|
CA1277749 rs376360227 |
880 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1277750 rs768597741 |
881 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA33857029 rs764357861 |
881 | D>N | No |
ClinGen gnomAD |
|
|
rs764357861 CA343646724 |
881 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 886 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867315136 CA33857031 |
888 | M>I | No |
ClinGen Ensembl |
|
|
CA33857033 rs776901265 |
889 | E>K | No |
ClinGen gnomAD |
|
|
CA343646792 rs1171487672 |
890 | K>R | No |
ClinGen gnomAD |
|
|
CA343646823 rs1164551505 |
892 | N>K | No |
ClinGen gnomAD |
|
|
rs1422511313 CA343646820 |
892 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA33862329 rs372457774 |
893 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA1277756 rs760881889 |
894 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs12061958 CA33862336 |
898 | A>P | No |
ClinGen Ensembl |
|
|
CA343646869 rs1287411491 |
900 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343646904 rs192542146 |
905 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1277758 rs202140120 |
905 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1277757 rs192542146 |
905 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs937262384 CA33862367 |
906 | A>E | No |
ClinGen TOPMed |
|
|
CA343646907 rs1300045522 |
906 | A>T | No |
ClinGen gnomAD |
|
|
rs937262384 CA343646911 |
906 | A>V | No |
ClinGen TOPMed |
|
|
rs1353520270 CA343646917 |
907 | Y>* | No |
ClinGen gnomAD |
|
|
CA33862368 rs370619782 |
907 | Y>C | No |
ClinGen ESP |
|
|
CA343646942 rs1169659802 |
910 | N>K | No |
ClinGen TOPMed |
|
|
CA343646939 rs1385085968 |
910 | N>S | No |
ClinGen TOPMed |
|
|
rs1476567099 CA343646945 |
911 | D>Y | No |
ClinGen TOPMed |
|
|
CA33862371 rs577746578 |
916 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs558665600 CA33862369 |
916 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs754985396 CA1277759 |
918 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1277760 rs779449618 |
921 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1284939492 CA343647012 |
921 | I>V | No |
ClinGen gnomAD |
|
|
rs1220271301 CA343647018 |
922 | I>F | No |
ClinGen TOPMed |
|
|
rs1254719828 CA343647023 |
922 | I>M | No |
ClinGen gnomAD |
|
|
CA343647021 rs1218168756 |
922 | I>T | No |
ClinGen gnomAD |
|
|
CA343647041 rs1482574070 |
925 | L>V | No |
ClinGen gnomAD |
|
|
rs1230360758 CA892075472 |
929 | S>* | No |
ClinGen TOPMed |
|
|
CA343647073 rs1337253677 |
930 | D>N | No |
ClinGen TOPMed |
|
|
rs1009560157 CA33862390 |
932 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343647106 rs1157175459 |
934 | K>N | No |
ClinGen gnomAD |
|
|
rs1379925318 CA343647107 |
935 | L>M | No |
ClinGen gnomAD |
|
|
CA343647117 rs895141670 |
936 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343647136 rs1571711857 |
937 | V>G | No |
ClinGen Ensembl |
|
|
rs1448675042 CA343647141 |
938 | N>S | No |
ClinGen gnomAD |
|
|
CA343647153 rs1300883166 |
940 | P>S | No |
ClinGen gnomAD |
|
|
rs753400372 CA33862558 |
941 | E>G | No |
ClinGen Ensembl |
|
|
rs1366401088 CA343647188 |
945 | D>N | No |
ClinGen gnomAD |
|
|
rs773096804 CA1277773 |
945 | D>V | No |
ClinGen ExAC |
|
|
CA33862560 rs569358085 |
946 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1446365395 CA343647224 |
950 | A>V | No |
ClinGen TOPMed |
|
|
CA343647226 rs1182688990 |
951 | I>V | No |
ClinGen TOPMed |
|
|
rs1314492071 CA343647244 |
953 | E>D | No |
ClinGen gnomAD |
|
|
rs1197358997 CA343647250 |
954 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343647246 rs1438194292 |
954 | G>C | No |
ClinGen gnomAD |
|
|
rs1197358997 CA343647251 |
954 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1055560268 CA33862561 |
955 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343647268 rs1200898543 |
957 | D>G | No |
ClinGen gnomAD |
|
|
rs554917759 CA1277774 |
958 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245215374 CA343647273 |
958 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs941970465 CA33862579 COSM424759 |
960 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1277777 rs374807680 |
964 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374807680 CA343647315 |
964 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343647320 rs1476868341 |
965 | I>T | No |
ClinGen gnomAD |
|
|
CA343647326 rs1169921389 |
966 | M>K | No |
ClinGen gnomAD |
|
|
rs1169921389 CA343647327 |
966 | M>T | No |
ClinGen gnomAD |
|
|
rs548517851 CA1277778 |
967 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548517851 CA33862595 |
967 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343647340 rs1428855677 |
968 | V>A | No |
ClinGen TOPMed |
|
|
rs1321267197 CA343647349 |
969 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1348979141 CA343647352 |
970 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1348979141 CA343647350 |
970 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343647359 rs1294901982 |
971 | V>D | No |
ClinGen gnomAD |
|
|
CA343647356 rs1235710350 |
971 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1030197618 CA33862604 |
973 | M>I | No |
ClinGen Ensembl |
|
|
CA343647380 rs1337829508 |
974 | Y>C | No |
ClinGen gnomAD |
|
|
CA1277781 rs778131453 |
977 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA343647807 rs1341273956 |
980 | C>F | No |
ClinGen TOPMed |
|
|
CA1277789 rs772098530 |
981 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1156259426 CA343647832 |
982 | W>* | No |
ClinGen TOPMed |
|
|
CA343647836 rs1156259426 |
982 | W>S | No |
ClinGen TOPMed |
|
|
CA343647864 rs1398081532 |
984 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 984 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489301984 CA343647867 |
984 | A>V | No |
ClinGen gnomAD |
|
|
CA1277790 rs547895309 |
985 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473038201 CA343647884 |
986 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1277792 rs182399502 |
986 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1277793 rs776979620 |
987 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA33863979 rs56265214 |
987 | S>F | No |
ClinGen 1000Genomes |
|
|
CA343647922 rs1158747983 |
990 | Q>E | No |
ClinGen gnomAD |
|
|
rs1412230922 CA343647957 |
992 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA33863982 rs1056826128 |
993 | G>E | No |
ClinGen TOPMed |
|
|
CA343647965 rs1399797119 |
993 | G>W | No |
ClinGen gnomAD |
|
|
rs1163715638 CA343647984 |
994 | K>M | No |
ClinGen TOPMed |
|
|
CA343648017 rs1407681568 |
996 | F>L | No |
ClinGen Ensembl |
|
|
rs1340379601 CA343648054 |
1001 | S>G | No |
ClinGen gnomAD |
|
|
CA343648065 rs1449226767 |
1002 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1277794 rs759688790 |
1006 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239762857 CA343648099 |
1007 | D>E | No |
ClinGen gnomAD |
|
|
CA343648096 rs1263163641 |
1007 | D>G | No |
ClinGen TOPMed |
|
|
rs984398209 CA343648106 CA343648107 |
1008 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343648112 rs1353018407 |
1009 | Y>C | No |
ClinGen gnomAD |
|
|
rs1198790599 CA343648117 |
1010 | P>A | No |
ClinGen gnomAD |
|
|
CA343648131 rs1294444857 |
1012 | S>P | No |
ClinGen gnomAD |
|
|
CA343648137 rs1221132019 |
1013 | S>G | No |
ClinGen TOPMed |
|
|
rs1212011649 CA343648147 |
1014 | G>E | No |
ClinGen gnomAD |
|
|
rs1442867571 CA343648144 |
1014 | G>R | No |
ClinGen gnomAD |
|
|
rs1454442883 CA343648179 |
1017 | N>S | No |
ClinGen TOPMed |
|
|
CA343648183 rs1365640438 |
1018 | A>T | No |
ClinGen TOPMed |
|
|
CA343648213 rs1156956473 |
1022 | F>Y | No |
ClinGen TOPMed |
|
|
rs551028604 CA1277806 |
1023 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551028604 CA343648221 |
1023 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343648232 rs1179297944 |
1025 | L>F | No |
ClinGen gnomAD |
|
|
rs1422093765 CA343648238 |
1026 | R>K | No |
ClinGen gnomAD |
|
|
rs369711537 CA1277808 |
1027 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33865475 rs906600288 |
1029 | E>V | No |
ClinGen Ensembl |
|
|
rs1383166557 CA343648265 |
1030 | W>* | No |
ClinGen gnomAD |
|
|
rs1465446260 CA343648280 |
1032 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1034 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1277810 rs76910870 |
1035 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373882372 CA1277809 |
1035 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323114123 CA343648316 |
1036 | E>K | No |
ClinGen gnomAD |
|
|
CA343648336 rs1331793753 |
1037 | A>E | No |
ClinGen gnomAD |
|
|
rs759160860 CA33865481 |
1037 | A>T | No |
ClinGen TOPMed |
|
|
CA343648342 rs1225424630 |
1038 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764930788 CA33865482 |
1039 | S>T | No |
ClinGen TOPMed |
|
|
CA343648367 rs1235616586 |
1040 | S>P | No |
ClinGen TOPMed |
|
|
rs1375348262 CA343648379 |
1041 | V>F | No |
ClinGen gnomAD |
|
|
rs1353962810 CA343648386 |
1042 | Q>* | No |
ClinGen TOPMed |
|
|
CA1277819 rs369986568 |
1044 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1571725560 CA343648940 |
1045 | S>A | No |
ClinGen Ensembl |
|
|
CA1277820 rs767935446 |
1047 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1047 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33866052 rs973741067 |
1050 | T>N | No |
ClinGen TOPMed |
|
|
CA343649034 rs1264471796 |
1053 | R>G | No |
ClinGen gnomAD |
|
|
rs750765325 CA1277821 |
1053 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207411272 CA343649050 |
1054 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1055 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343649055 rs756518318 |
1055 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1277822 rs756518318 |
1055 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1057 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386095778 CA343649076 |
1057 | S>P | No |
ClinGen gnomAD |
|
|
CA343649092 rs1426740613 |
1058 | A>D | No |
ClinGen gnomAD |
|
|
rs1174621096 CA343649085 |
1058 | A>T | No |
ClinGen gnomAD |
|
|
CA343649091 rs1426740613 |
1058 | A>V | No |
ClinGen gnomAD |
|
|
CA343649110 rs1360031460 |
1059 | M>I | No |
ClinGen gnomAD |
|
|
CA33866062 rs373602257 |
1060 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA33866061 rs373602257 |
1060 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343649163 COSM3976689 rs557155006 |
1064 | V>F | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1277824 rs557155006 |
1064 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1318570561 CA343649184 |
1065 | Q>H | No |
ClinGen TOPMed |
|
|
CA343649182 rs1558443661 |
1065 | Q>R | No |
ClinGen Ensembl |
|
|
CA343649193 rs1434440005 |
1066 | G>E | No |
ClinGen TOPMed |
|
|
rs1350965265 CA343649314 |
1067 | Q>E | No |
ClinGen Ensembl |
|
|
CA33866941 rs960231719 |
1068 | K>* | No |
ClinGen Ensembl |
|
|
rs902354109 CA33866948 |
1070 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343649352 rs1344673095 |
1071 | Y>H | No |
ClinGen TOPMed |
|
|
CA343649364 rs769739061 |
1072 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1571728888 CA343649363 |
1072 | I>S | No |
ClinGen Ensembl |
|
|
rs757095039 CA1277829 |
1072 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023600224 CA33866964 |
1073 | K>Q | No |
ClinGen gnomAD |
|
|
CA343649367 rs1348304339 |
1073 | K>T | No |
ClinGen TOPMed |
|
|
rs570097728 CA1277830 |
1076 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553276657 CA343649397 |
1077 | K>Q | No |
ClinGen Ensembl |
No associated diseases with A5PLK6
1 regional properties for A5PLK6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RGS domain | 646 - 753 | IPR016137 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSAEIIGST | NLIILLEDEV | FADFFNTFLS | LPVFGQTPFY | TVENSQWSLW | PEIPCNLIAK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YKGLLTWLEK | CRLPFFCKTN | LCFHYILCQE | FISFIKSPEG | GEELVDFWIL | AENILSIDEM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLEVRDYYLS | LLLMLRATHL | QEGSRVVTLC | NMNIKSLLNL | SIWHPNQSTT | RREILSHMQK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VALFKLQSYW | LPNFYTHTKM | TMAKEEACHG | LMQEYETRLY | SVCYTHIGGL | PLNMSIKKCH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HFQKRYSSRK | AKRKMWQLVD | PDSWSLEMDL | KPDAIGMPLQ | ETCPQEKVVI | QMPSLKMASS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KETRISSLEK | DMHYAKISSM | ENKAKSHLHM | EAPFETKVST | HLRTVIPIVN | HSSKMTIQKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IKQSFSLGYI | HLALCADACA | GNPFRDHLKK | LNLKVEIQLL | DLWQDLQHFL | SVLLNNKKNG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NAIFRHLLGD | RICELYLNEQ | IGPCLPLKSQ | TIQGLKELLP | SGDVIPWIPK | AQKEICKMLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PWYDEFLDEE | DYWFLLFTTQ | NRFISSRQHK | REFIGKEENI | LLYKRIQQSL | ELSQALADMK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EMDYRQWRKI | ATEDLKQGGS | LQVELTSPVF | LTDITKMSFE | ELCYKNPKMA | IQKISDDYKI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YCEKAPKIDF | KMEIIKETKT | VSRSNRKMSL | LKRTLVRKPS | MRPRNLTEVL | LNTQHLEFFR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EFLKERKAKI | PLQFLTAVQK | ISIETNEKIC | KSLIENVIKT | FFQGQLSPEE | MLQCDAPIIK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EIASMRHVTT | STLLTLQGHV | MKSIEEKWFK | DYQDLFPPHH | QEVEVQSEVQ | ISSRKPSKIV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| STYLQESQKK | GWMRMISFIR | SFCKYRRFML | NPSKRQEFED | YLHQEMQNSK | ENFTTAHNTS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GRSAPPSTNV | RSADQENGEI | TLVKRRIFGH | RIITVNFAIN | DLYFFSEMEK | FNDLVSSAHM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LQVNRAYNEN | DVILMRSKMN | IIQKLFLNSD | IPPKLRVNVP | EFQKDAILAA | ITEGYLDRSV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FHGAIMSVFP | VVMYFWKRFC | FWKATRSYLQ | YRGKKFKDRK | SPPKSTDKYP | FSSGGDNAIL |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| RFTLLRGIEW | LQPQREAISS | VQNSSSSKLT | QPRLVVSAMQ | LHPVQGQKLS | YIKKEK |