Q9Y5S2

SS
Gene name
CDC42BPB (KIAA1124)
Protein name
Serine/threonine-protein kinase MRCK beta
Names
EC 2.7.11.1 , CDC42-binding protein kinase beta , CDC42BP-beta , DMPK-like beta , Myotonic dystrophy kinase-related CDC42-binding kinase beta , MRCK beta , Myotonic dystrophy protein kinase-like beta
Species
Homo sapiens (Human)
KEGG Pathway
hsa:9578
EC number
2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

CDC42BPA(MRCK) is a Cdc42-binding serine/threonine kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. A region containing the two distal CC domains (CC2 and CC3; residues 658-930) interacts intramolecularly with the kinase domain and negatively regulates its activity.

Autoinhibitory domains (AIDs)

656-927 (Coiled-coil domains) SS

Target domain

76-342 (Protein kinase domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

217-241 (Activation loop from InterPro)

Target domain

3-411 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

7 structures for Q9Y5S2

Entry ID Method Resolution Chain Position Source
3QFV X-ray 265 A A/B 1-415 PDB
3TKU X-ray 215 A A/B 2-417 PDB
4UAK X-ray 173 A A 2-417 PDB
4UAL X-ray 171 A A 2-417 PDB
5OTE X-ray 168 A A 2-417 PDB
5OTF X-ray 200 A A 2-417 PDB
AF-Q9Y5S2-F1 Predicted AlphaFoldDB

1543 variants for Q9Y5S2

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001007682
rs1595208914
 13 L>missing CDC42BPB-related neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
rs1384767070
RCV001839070
 44 S>L CDC42BPB-related Neurodevelopmental disorder [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV001007673
rs1198710710
VAR_087124
 142 A>T CDC42BPB-related neurodevelopmental syndrome CHOCNS; uncertain significance [ClinVar, UniProt] Yes ClinVar
TOPMed
dbSNP
gnomAD
UniProt
RCV002249553
rs1595127294
RCV001007674
VAR_087125
RCV003127490
 175 D>Y CDC42BPB-related neurodevelopmental syndrome Chilton-Okur-Chung neurodevelopmental syndrome Autism spectrum disorder CHOCNS; uncertain significance [ClinVar, UniProt] Yes ClinVar
Ensembl
dbSNP
UniProt
VAR_087126
RCV002251523
RCV001007675
rs1016320330
 293 I>M CDC42BPB-related neurodevelopmental syndrome Chilton-Okur-Chung neurodevelopmental syndrome CHOCNS; uncertain significance [ClinVar, UniProt] Yes ClinVar
dbSNP
gnomAD
UniProt
RCV001266866
rs1389878014
 512 E>Q Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV001007683
rs1595482918
 544 E>missing CDC42BPB-related neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001007684
rs1595476797
RCV002249556
 764 R>* CDC42BPB-related neurodevelopmental syndrome Chilton-Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
VAR_087127 764 R>del CHOCNS [UniProt] Yes UniProt
COSM348876
RCV002051901
VAR_087128
RCV002249554
RCV001007676
RCV001585796
rs1595472764
 867 R>C lung CDC42BPB-related neurodevelopmental syndrome CDC42BPB-related disorder Chilton-Okur-Chung neurodevelopmental syndrome CHOCNS [Cosmic, ClinVar, UniProt] Yes cosmic curated
ClinVar
Ensembl
dbSNP
UniProt
rs1595472756
RCV001007677
VAR_087129
 871 L>P CDC42BPB-related neurodevelopmental syndrome CHOCNS; uncertain significance [ClinVar, UniProt] Yes ClinVar
Ensembl
dbSNP
UniProt
RCV001007679
rs1595472739
VAR_087130
 876 R>P CDC42BPB-related neurodevelopmental syndrome CHOCNS [ClinVar, UniProt] Yes ClinVar
Ensembl
dbSNP
UniProt
RCV001007678
RCV002249555
COSM21311
rs1595472741
 876 R>W CDC42BPB-related neurodevelopmental syndrome large_intestine Chilton-Okur-Chung neurodevelopmental syndrome [ClinVar, Cosmic] Yes cosmic curated
ClinVar
Ensembl
dbSNP
RCV001650496
rs1346688931
 1205 W>* Neurodevelopmental disorder [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1595450393
VAR_087131
RCV001007680
 1299 R>Q CDC42BPB-related neurodevelopmental syndrome CHOCNS; uncertain significance [ClinVar, UniProt] Yes ClinVar
Ensembl
dbSNP
UniProt
rs1595450125
VAR_087132
RCV001007681
 1350 R>P CDC42BPB-related neurodevelopmental syndrome CHOCNS; uncertain significance [ClinVar, UniProt] Yes ClinVar
UniProt
Ensembl
dbSNP
rs1221606316 2 S>L No TOPMed
gnomAD
rs1889033453 3 A>S No Ensembl
rs1889033282 3 A>V No gnomAD
TCGA novel 4 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1331211983 4 K>R No gnomAD
rs1288920926 6 R>W No TOPMed
gnomAD
rs749933054 8 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1335725420 8 K>R No TOPMed
gnomAD
rs1407264836 12 Q>R No TOPMed
gnomAD
rs1889031169 14 L>F No TOPMed
gnomAD
rs757691424 16 D>E No ExAC
TOPMed
gnomAD
rs1889030348 16 D>G No Ensembl
rs1160560731 16 D>H No gnomAD
rs752178375 18 P>S No ExAC
TOPMed
gnomAD
rs1241074729 19 W>G No TOPMed
rs201340035 20 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1889029511 21 N>H No TOPMed
rs1242282334 21 N>S No TOPMed
gnomAD
rs1232684545 23 S>N No Ensembl
rs1466090550 23 S>R No gnomAD
rs1889028716 24 A>V No TOPMed
rs370755673 29 T>A No ESP
gnomAD
rs763422325 33 V>L No ExAC
TOPMed
gnomAD
rs752916061 34 L>F No ExAC
gnomAD
rs1450828740 35 V>A No TOPMed
gnomAD
rs759838637 39 T>N No ExAC
TOPMed
gnomAD
rs992747877 42 S>N No TOPMed
rs1164936094 42 S>R No TOPMed
rs1425392018 43 H>R No TOPMed
gnomAD
rs1889025433 43 H>Y No Ensembl
rs1419664091 45 A>V No TOPMed
gnomAD
COSM3401124
rs1248462707
 47 R>C central_nervous_system [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1248462707 47 R>G No TOPMed
gnomAD
rs1889023648 49 D>V No TOPMed
rs1392880438 49 D>Y No TOPMed
gnomAD
rs768383971 50 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs774279882 50 K>Q No ExAC
TOPMed
rs1291386827 51 Y>H No gnomAD
rs959796421 52 V>A No TOPMed
gnomAD
rs749105563 53 A>V No ExAC
TOPMed
gnomAD
rs769301150 57 E>K No ExAC
gnomAD
rs769301150 57 E>Q No ExAC
gnomAD
rs1889021474 58 W>L No TOPMed
COSM4049247 59 A>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs995127355 59 A>T No TOPMed
gnomAD
rs775126793 60 K>E No ExAC
TOPMed
gnomAD
COSM953610 60 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1886193515 61 P>S No Ensembl
rs769695479 63 T>S No ExAC
TOPMed
gnomAD
rs780909971 64 Q>H No ExAC
TOPMed
gnomAD
rs1886192116 66 V>M No Ensembl
rs552932246 67 K>R No 1000Genomes
rs1480673716 69 M>I No TOPMed
gnomAD
rs2139642174 70 Q>R No Ensembl
rs1886191319 71 L>F No Ensembl
rs1886191153 72 H>R No TOPMed
rs777461445 73 R>Q No ExAC
gnomAD
COSM271015 75 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3493952 75 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2139642122 77 E>D No Ensembl
rs1202032028 77 E>K No gnomAD
rs2139642101 83 G>R No Ensembl
rs1886190549 88 G>D No Ensembl
TCGA novel 89 E>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3814284 91 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764882406 94 K>R No ExAC
gnomAD
rs1319097165 98 T>A No gnomAD
rs1885974911 99 E>K No TOPMed
rs2139628971 100 R>* No Ensembl
rs776104283 100 R>L No ExAC
gnomAD
COSM4049246
rs776104283
 100 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM4049245 101 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772832755 107 L>F No ExAC
gnomAD
rs1885973429 108 N>K No TOPMed
rs1020400206 108 N>S No TOPMed
RCV001771412
rs1171933717
 111 E>A No ClinVar
Ensembl
dbSNP
rs771777803 111 E>D No ExAC
gnomAD
rs1171933717 111 E>G No Ensembl
rs748539078 117 E>D No ExAC
gnomAD
rs1185305624 119 A>S No TOPMed
gnomAD
rs1185305624 119 A>T No TOPMed
gnomAD
RCV001380967
rs2139609624
 122 R>* No ClinVar
Ensembl
dbSNP
COSM697009
rs1895116700
 122 R>Q lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1357631483 123 E>Q No gnomAD
rs932105669
COSM3493951
 125 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs781414650 126 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs371426927 130 N>K No ESP
ExAC
TOPMed
gnomAD
rs1225331202 131 G>R No gnomAD
rs1225331202 131 G>S No gnomAD
rs80317877 132 D>A No Ensembl
rs777760721 132 D>N No ExAC
TOPMed
gnomAD
rs978392521 133 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1386982720 134 Q>R No TOPMed
rs754926991 137 T>I No ExAC
gnomAD
rs760562644 138 A>G No ExAC
TOPMed
gnomAD
rs766213299 138 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs760562644 138 A>V No ExAC
TOPMed
gnomAD
rs1895113283 140 H>R No TOPMed
rs1481742916 140 H>Y No gnomAD
rs1489882007 142 A>G No gnomAD
rs1489882007 142 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1196626669 144 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1196626669 144 Q>K No TOPMed
gnomAD
rs768111592 146 E>K No ExAC
gnomAD
rs1895112018 147 N>T No Ensembl
rs1895111872 148 H>D No TOPMed
rs1895111739 148 H>Q No Ensembl
rs1895111596 149 L>P No gnomAD
rs1894893081 152 V>A No TOPMed
rs773322928 152 V>I No ExAC
TOPMed
gnomAD
rs773322928 152 V>L No ExAC
TOPMed
gnomAD
rs1894892811 155 Y>F No TOPMed
rs748273726 158 G>D No ExAC
gnomAD
rs1280833656 158 G>S No TOPMed
rs1246324934 163 T>I No gnomAD
rs1246324934 163 T>N No gnomAD
TCGA novel 165 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1894891478 167 K>R No gnomAD
COSM3493949 169 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs569036151 169 E>K No 1000Genomes
ExAC
gnomAD
rs2139593221 173 P>L No 1000Genomes
rs200047302 173 P>S No TOPMed
rs1041133482 176 M>T No TOPMed
rs1161181768 179 F>* No gnomAD
rs1595127260 179 F>V No Ensembl
TCGA novel 183 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760028278 187 A>V No ExAC
gnomAD
COSM432699 193 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777005233 193 Q>R No ExAC
gnomAD
rs147856179 197 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs147856179 197 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs957253615 202 K>R No TOPMed
TCGA novel 203 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs62006862 203 P>L No Ensembl
rs62006861 204 D>Y No Ensembl
rs1476567278 205 N>S No TOPMed
gnomAD
rs773431264 210 V>G No ExAC
TOPMed
gnomAD
rs1273277947 210 V>M No TOPMed
gnomAD
TCGA novel 210 V>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1894254247 211 N>K No Ensembl
rs762122928 215 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs774720497 215 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
TCGA novel 215 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1357642794 217 A>G No TOPMed
rs112134218 219 F>S No Ensembl
rs1347313535 221 S>L No gnomAD
rs1313733252 225 M>I No TOPMed
COSM4049243 227 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1894252552 228 D>G No gnomAD
rs1468791260 228 D>N No gnomAD
rs1468791260 228 D>Y No gnomAD
rs1377307978 229 G>A No TOPMed
gnomAD
rs1894112812 232 Q>H No TOPMed
gnomAD
rs1894112922 232 Q>R No TOPMed
rs1184748794 235 V>L No gnomAD
rs1184748794 235 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1217960770 243 I>L No TOPMed
gnomAD
rs1287926437 243 I>M No TOPMed
rs1217960770 243 I>V No TOPMed
gnomAD
rs967740106 250 A>V No TOPMed
gnomAD
rs779426560 251 M>T No ExAC
gnomAD
rs1233852375 254 G>D No TOPMed
gnomAD
rs750838520 254 G>S No ExAC
gnomAD
rs1430759266 255 M>L No gnomAD
rs1471335993 257 K>R No 1000Genomes
TOPMed
gnomAD
TCGA novel 258 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 259 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757877062 261 E>Q No ExAC
TOPMed
gnomAD
TCGA novel 264 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1164545056 269 V>I No gnomAD
rs1423604188 271 M>V No TOPMed
gnomAD
rs372288260 274 M>I No ESP
ExAC
TOPMed
gnomAD
rs1162161745 275 L>I No Ensembl
rs531412667 276 Y>C No 1000Genomes
rs1405592074 278 E>K No Ensembl
rs1486224985 279 T>M No TOPMed
gnomAD
rs2139527081 283 A>V No Ensembl
rs1894107413 285 S>T No TOPMed
gnomAD
rs767414589 287 V>L No ExAC
TOPMed
gnomAD
rs767414589 287 V>M No ExAC
TOPMed
gnomAD
rs202202441 289 T>S No 1000Genomes
ExAC
gnomAD
rs768567118 290 Y>F No ExAC
gnomAD
rs775222428 291 G>A No ExAC
gnomAD
rs549614523 294 M>V No Ensembl
rs769139672 296 H>Q No ExAC
gnomAD
rs1282644689 296 H>R No TOPMed
rs956631106 297 E>G No TOPMed
gnomAD
rs1893972655 298 E>* No Ensembl
rs941463713 299 R>Q No TOPMed
rs1424438542 301 Q>H No TOPMed
gnomAD
rs888491399 302 F>L No TOPMed
rs762982831 305 H>P No Ensembl
rs138477914 307 T>M No ESP
gnomAD
rs776272982 309 V>I No ExAC
TOPMed
gnomAD
rs1323587983 311 E>K No TOPMed
gnomAD
rs1893971392 311 E>V No Ensembl
rs1893971251
TCGA novel
 313 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1893970971 314 K>R No Ensembl
rs547502635 321 I>L No 1000Genomes
ExAC
gnomAD
rs547502635 321 I>V No 1000Genomes
ExAC
gnomAD
rs775066402 323 S>G No ExAC
gnomAD
rs755180952 323 S>N No ExAC
gnomAD
rs1893969500 324 R>I No Ensembl
rs1893969237 325 E>K No Ensembl
rs754126714 326 R>C No ExAC
TOPMed
gnomAD
rs771743362 326 R>H No ExAC
gnomAD
rs771743362 326 R>L No ExAC
gnomAD
rs1277252912 327 R>Q No TOPMed
gnomAD
rs1893968413 330 Q>R No Ensembl
TCGA novel 331 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1212092841 332 G>A No TOPMed
gnomAD
rs34076876 334 E>K No ExAC
gnomAD
rs34076876 334 E>Q No ExAC
gnomAD
rs1249865429 335 D>A No gnomAD
TCGA novel 338 K>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 339 H>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
RCV001542456
rs2139515520
 339 H>R No ClinVar
Ensembl
dbSNP
rs368416667
COSM4049241
 340 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1260922744 341 F>L No gnomAD
COSM1368393 342 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM273772 343 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 344 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1424486232 349 N>H No TOPMed
gnomAD
TCGA novel 349 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1248642512 349 N>S No TOPMed
gnomAD
rs529056427
TCGA novel
 351 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
1000Genomes
rs529056427 351 R>G No 1000Genomes
COSM274460
rs772636121
 351 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1176003660 352 N>D No TOPMed
gnomAD
rs1893964881 354 E>G No gnomAD
rs772612460 354 E>Q No ExAC
gnomAD
rs1893964617
RCV001754909
 357 Y>* No ClinVar
TOPMed
dbSNP
rs1893964487 358 I>T No TOPMed
COSM953606 363 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1893964308 363 S>N No TOPMed
gnomAD
rs1893964308 363 S>T No TOPMed
gnomAD
rs1893964192 364 P>A No TOPMed
COSM4049240 364 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3401123 366 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1893963310 371 D>N No TOPMed
rs1445044341 372 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1595490349 373 D>G No Ensembl
COSM3983113
RCV001785216
rs1185383388
 375 D>N ovary [Cosmic] No cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs770798082 376 V>M No ExAC
TOPMed
gnomAD
rs758348207 377 L>V No ExAC
TOPMed
gnomAD
rs1487065711 380 T>M No gnomAD
rs1893843484 382 I>V No TOPMed
gnomAD
RCV002267310
rs1437531053
 388 H>Q No ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel 388 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759102366 389 T>R No ExAC
TOPMed
gnomAD
rs748069736 391 F>L No ExAC
gnomAD
rs1400880323 394 L>F No gnomAD
rs1169912257 395 H>R No gnomAD
rs1432013256 395 H>Y No TOPMed
rs1371299187 399 I>V No TOPMed
gnomAD
rs1893841522 400 G>D No TOPMed
rs1893841405 402 T>S No TOPMed
rs1893841162 405 T>A No Ensembl
rs1477528246 405 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs763381498 408 C>Y No ExAC
gnomAD
rs1893726665 410 S>C No Ensembl
COSM107988
rs143236725
 412 R>* Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs775986875 412 R>Q No ExAC
TOPMed
gnomAD
rs1193231685 413 G>S No TOPMed
gnomAD
rs1893725711 414 S>F No Ensembl
rs1389670141 415 L>P No TOPMed
rs777092253 418 I>L No ExAC
gnomAD
rs1319868403 419 M>T No gnomAD
rs1005957568 419 M>V No TOPMed
rs771034761 420 Q>R No ExAC
gnomAD
rs747311960 421 S>P No ExAC
gnomAD
rs1416537335 422 N>K No gnomAD
rs773422657 422 N>S No ExAC
TOPMed
gnomAD
rs1893724651 422 N>Y No Ensembl
rs1240863944 424 L>S No TOPMed
gnomAD
rs1182992498 425 T>A No gnomAD
rs1893723606 427 D>E No Ensembl
rs749179808 427 D>G No ExAC
TCGA novel 427 D>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM432698 428 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780164492 429 D>N No ExAC
gnomAD
TCGA novel 429 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1357473697 431 Q>R No TOPMed
rs377230665 432 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM4049239
rs769595230
 432 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs781091895 433 D>V No ExAC
gnomAD
rs532655051 436 H>L No gnomAD
rs756849826 436 H>Q No ExAC
gnomAD
rs1227731562 437 S>N No gnomAD
rs202198663 440 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1566874246 442 A>P No Ensembl
rs1566874246 442 A>S No Ensembl
TCGA novel
rs1893721853
 442 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1489501101 443 Y>F No Ensembl
rs1295995685 444 E>D No gnomAD
rs753158900 444 E>K No ExAC
TOPMed
gnomAD
rs1250404274 448 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM3493948
rs765630243
 448 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1893720523 449 R>K No TOPMed
rs1420073737 453 E>D No TOPMed
rs750461988 459 R>W No gnomAD
rs1003129061 461 L>P No TOPMed
gnomAD
COSM3671864 462 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1128330 463 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3493947 464 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1893712466 464 S>P No TOPMed
rs1234783943 465 T>I No TOPMed
gnomAD
rs1234783943 465 T>S No TOPMed
gnomAD
rs1300188295 467 T>I No gnomAD
rs759330821 468 V>L No ExAC
gnomAD
rs759330821 468 V>M No ExAC
gnomAD
rs1448257033 471 L>R No gnomAD
rs1893710704 473 G>D No TOPMed
rs1893710830 473 G>R No gnomAD
rs1893710830 473 G>S No gnomAD
rs371772936 476 R>G No ESP
ExAC
TOPMed
gnomAD
rs367865440 476 R>L No ESP
ExAC
TOPMed
gnomAD
rs367865440 476 R>Q No ESP
ExAC
TOPMed
gnomAD
rs371772936 476 R>W No ESP
ExAC
TOPMed
gnomAD
rs1015324528 477 A>T No TOPMed
gnomAD
rs1893709744 479 S>G No TOPMed
rs754531547 480 N>S No ExAC
TOPMed
gnomAD
rs1212883584 482 N>D No TOPMed
rs749711259
COSM953605
 483 R>Q lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1457212134 486 E>D No gnomAD
COSM697010 486 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1236298714 487 I>M No gnomAD
rs1201621767 488 K>Q No gnomAD
rs185643206 488 K>T No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3814283 489 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1255018308 490 L>P No gnomAD
rs756727099 491 N>D No ExAC
gnomAD
rs530300961 491 N>S No TOPMed
gnomAD
rs530300961 491 N>T No TOPMed
gnomAD
rs750798248 493 E>D No ExAC
gnomAD
rs377142500 494 I>M No ESP
ExAC
TOPMed
gnomAD
rs1893707085 494 I>T No Ensembl
rs768057349 494 I>V No ExAC
TOPMed
gnomAD
TCGA novel 495 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751814078 495 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs140317521 496 R>C No ESP
ExAC
TOPMed
gnomAD
rs372371951 496 R>H No ESP
TOPMed
gnomAD
rs112025674 497 L>F No TOPMed
COSM953604 498 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773352644 498 K>R No ExAC
TOPMed
gnomAD
rs775468568 499 N>K No ExAC
gnomAD
rs1158962067
VAR_040834
COSM619
 500 K>E breast a breast infiltrating ductal carcinoma sample; somatic mutation [Cosmic, UniProt] No cosmic curated
UniProt
dbSNP
gnomAD
rs766277875 501 I>M No ExAC
gnomAD
rs1231370027 501 I>V No TOPMed
gnomAD
rs1566873808 502 A>T No TOPMed
rs1261899684 502 A>V No TOPMed
gnomAD
rs1212006380 503 D>V No TOPMed
gnomAD
rs1893623620 504 S>L No TOPMed
gnomAD
rs773145635 506 R>S No ExAC
TOPMed
gnomAD
rs1893623174 507 L>F No TOPMed
rs1893623023 507 L>P No Ensembl
rs774054692 508 E>D No ExAC
TOPMed
gnomAD
TCGA novel 508 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768333860 509 R>* No ExAC
TOPMed
gnomAD
rs768333860 509 R>G No ExAC
TOPMed
gnomAD
rs762573744 509 R>Q No ExAC
TOPMed
gnomAD
rs1387162153 510 Q>P No gnomAD
COSM3793489 512 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769436597 512 E>G No ExAC
TOPMed
gnomAD
rs746321865 514 T>A No ExAC
gnomAD
rs143474150 514 T>I No ESP
ExAC
TOPMed
gnomAD
rs1595483123 515 V>G No Ensembl
rs1476597501 516 A>T No TOPMed
gnomAD
rs149124468
COSM2151603
 516 A>V central_nervous_system [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1893620425 517 L>P No gnomAD
rs200810382 518 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs201875902 518 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201875902 518 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1056905207 521 R>C No TOPMed
gnomAD
rs1056905207 521 R>G No TOPMed
gnomAD
rs367791222
COSM4049238
 521 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367791222 521 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs917093626 523 D>A No TOPMed
gnomAD
rs917093626 523 D>V No TOPMed
gnomAD
rs767412929 524 S>P No ExAC
gnomAD
rs761707317 525 T>M No ExAC
TOPMed
gnomAD
rs1323795391 526 Q>R No TOPMed
gnomAD
rs776779318 527 R>P No ExAC
TOPMed
gnomAD
rs776779318 527 R>Q No ExAC
TOPMed
gnomAD
rs1448994494 527 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs200053443 529 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs200053443 529 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1163047
rs374111285
 529 R>W pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs147371660 530 G>R No ESP
gnomAD
rs1192156263 530 G>V No gnomAD
rs1893616531 531 L>Q No Ensembl
rs1289000508 533 K>R No TOPMed
gnomAD
rs776328032 535 H>Q No ExAC
gnomAD
rs1566872144 535 H>Y No gnomAD
rs771452351 536 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs144313805 536 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144313805 536 R>L No ESP
ExAC
TOPMed
gnomAD
rs140070781 537 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs964090318 538 V>A No gnomAD
rs1377486618 538 V>F No TOPMed
gnomAD
rs1377486618 538 V>I No TOPMed
gnomAD
rs755233914 539 R>G No ExAC
TOPMed
gnomAD
rs753894689 539 R>P No ExAC
TOPMed
gnomAD
rs753894689 539 R>Q No ExAC
TOPMed
gnomAD
rs755233914 539 R>W No ExAC
TOPMed
gnomAD
rs757217270 542 K>E No ExAC
gnomAD
rs1413616750 542 K>R No Ensembl
rs751458409 544 E>* No ExAC
TOPMed
gnomAD
rs763896010
RCV001774676
 544 E>G No ClinVar
ExAC
dbSNP
gnomAD
rs751458409 544 E>K No ExAC
TOPMed
gnomAD
rs763896010 544 E>V No ExAC
gnomAD
rs1468655007 546 H>Q No gnomAD
rs752576729 546 H>Y No ExAC
TOPMed
gnomAD
rs1893612312 547 K>E No Ensembl
rs1239356043 547 K>M No gnomAD
rs2139475497 550 V>A No Ensembl
rs1255101835 550 V>I No TOPMed
rs1893502669 554 E>Q No Ensembl
rs36001612
VAR_040835
 555 R>Q No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs931183204 555 R>W No TOPMed
gnomAD
TCGA novel 558 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374954708 561 K>E No ESP
ExAC
TOPMed
gnomAD
rs749456768 561 K>R No ExAC
gnomAD
rs2139475387 562 E>* No Ensembl
rs550942756 562 E>D No 1000Genomes
ExAC
gnomAD
rs931987662 564 K>R No TOPMed
gnomAD
TCGA novel 565 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200151871 566 A>V No Ensembl
rs1893500560 567 H>R No Ensembl
rs1288598764 567 H>Y No gnomAD
TCGA novel 570 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs148385475 570 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1374958981 572 L>M No gnomAD
rs1374958981 572 L>V No gnomAD
rs537535669 573 A>T No 1000Genomes
ExAC
gnomAD
rs1166159751 573 A>V No gnomAD
rs1370551078 575 Q>R No TOPMed
rs1415841205 577 F>I No TOPMed
gnomAD
rs1415841205 577 F>L No TOPMed
gnomAD
TCGA novel 578 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1261329799 580 L>V No TOPMed
gnomAD
rs149554853 581 N>D No ESP
TOPMed
TCGA novel 581 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778791236 581 N>K No ExAC
TOPMed
gnomAD
rs754841354 582 E>G No ExAC
gnomAD
rs1489366169 582 E>K No gnomAD
rs141131354 583 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs765917838 583 R>H No ExAC
TOPMed
gnomAD
rs1218724775 585 A>T No gnomAD
rs1893497396 586 E>D No gnomAD
rs2139474990 587 L>F No Ensembl
rs372968163 588 R>C No ESP
ExAC
TOPMed
gnomAD
rs551755307 588 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1893496826 589 A>D No TOPMed
rs767081811 590 Q>K No ExAC
gnomAD
rs1370240777 590 Q>L No TOPMed
gnomAD
COSM3987521 591 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1893496402 591 K>Q No gnomAD
rs2139474869 595 S>F No Ensembl
rs775968869 596 R>Q No ExAC
TOPMed
gnomAD
rs763342575 596 R>W No ExAC
TOPMed
rs1893495301 598 L>P No TOPMed
rs369423884
COSM174688
 599 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759867170 600 D>E No ExAC
TOPMed
gnomAD
rs1011557884 600 D>G No gnomAD
rs1011557884 600 D>V No gnomAD
rs894014625 601 K>E No TOPMed
gnomAD
rs776505275 602 E>G No ExAC
TOPMed
gnomAD
rs1192779388 603 E>K No gnomAD
rs1031580687 605 M>T No Ensembl
rs372499348 605 M>V No ESP
TOPMed
gnomAD
rs748047064 607 V>L No ExAC
TOPMed
gnomAD
rs748047064 607 V>M No ExAC
TOPMed
gnomAD
rs868554043 608 A>D No Ensembl
rs779024334 608 A>T No ExAC
gnomAD
rs868554043 608 A>V No Ensembl
rs145670721 609 T>K No ESP
ExAC
TOPMed
gnomAD
rs145670721 609 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1893492563 610 Q>R No TOPMed
gnomAD
rs1893491970 614 A>D No TOPMed
gnomAD
rs1893492115
COSM6025538
 614 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
gnomAD
rs1380140937 615 M>V No TOPMed
gnomAD
rs1369378750 616 R>Q No TOPMed
gnomAD
rs780626139 616 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM1368392 617 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1380110869 617 Q>L No Ensembl
rs140632643 620 R>Q No ESP
ExAC
TOPMed
gnomAD
rs761404232 620 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs947730985 621 R>K No gnomAD
rs1359980854 626 R>G No gnomAD
rs763569929 627 K>N No ExAC
TOPMed
gnomAD
rs1893416610 630 E>K No TOPMed
rs1362004091 631 A>S No gnomAD
rs1362004091 631 A>T No gnomAD
rs1188959808 631 A>V No gnomAD
rs751052410 633 L>R No ExAC
TOPMed
gnomAD
rs772855288 634 D>G No gnomAD
rs372304425 634 D>H No ESP
TOPMed
rs1893415071 635 D>G No gnomAD
rs777327728 635 D>H No ExAC
gnomAD
rs777327728 635 D>N No ExAC
gnomAD
rs368705809 637 V>I No ESP
ExAC
gnomAD
rs1893414721 638 A>G No TOPMed
rs373805829 642 K>E No ESP
ExAC
TOPMed
gnomAD
rs1249937943 644 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM1368391 644 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1893413763 645 K>R No TOPMed
rs1247042382 646 L>F No gnomAD
rs1247042382 646 L>V No gnomAD
rs754293915
COSM953603
 647 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs766686530 649 H>R No ExAC
gnomAD
rs1437457747 650 S>G No TOPMed
gnomAD
COSM953602
rs761037229
 650 S>N endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1893412768 651 E>D No TOPMed
rs138666514 651 E>K No ESP
ExAC
TOPMed
gnomAD
rs138666514 651 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1318657834 653 F>L No TOPMed
gnomAD
rs1365551712 653 F>L No TOPMed
rs1381459338 656 Q>R No gnomAD
rs1893411666 659 S>G No Ensembl
rs559189691 659 S>N No 1000Genomes
ExAC
gnomAD
rs769438435 660 E>K No ExAC
TOPMed
gnomAD
rs1167097758 663 A>T No TOPMed
gnomAD
rs1162177742 663 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs745647838 665 K>R No ExAC
TOPMed
gnomAD
rs540629746 666 V>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs540629746 666 V>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs560275092 666 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs374881719 667 K>N No ESP
ExAC
TOPMed
gnomAD
rs1282604230 667 K>R No gnomAD
rs778344538 668 Q>E No ExAC
gnomAD
rs1276334854 668 Q>H No gnomAD
rs947629970 669 G>R No TOPMed
gnomAD
rs144812182 671 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_040836
rs55948035
RCV002248322
 671 R>Q No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs144812182 671 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1893334283
COSM337379
 672 G>A lung [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1893334412 672 G>R No TOPMed
rs750636528 673 A>V No ExAC
gnomAD
rs1893333779 674 G>V No Ensembl
rs1407786828 679 H>Q No gnomAD
rs1595477267 680 Q>K No Ensembl
rs751650285 681 Q>E No ExAC
gnomAD
TCGA novel 682 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs542009619 682 E>K No 1000Genomes
ExAC
gnomAD
rs753792492 687 K>R No ExAC
TOPMed
gnomAD
rs1893332407 688 S>C No Ensembl
rs1893332407
RCV001542378
 688 S>F No ClinVar
Ensembl
dbSNP
rs1471198756 689 E>K No TOPMed
gnomAD
TCGA novel 691 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772927977 693 K>N No ExAC
gnomAD
TCGA novel 696 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1893331509 696 F>S No Ensembl
rs771742248 697 Y>C No ExAC
TOPMed
gnomAD
rs771742248 697 Y>F No ExAC
TOPMed
gnomAD
rs1566866914 699 E>A No Ensembl
rs761439565 699 E>D No ExAC
gnomAD
COSM432697 699 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs912861997 700 E>K No TOPMed
rs1211297916 701 L>F No gnomAD
rs1377141203 703 R>I No gnomAD
rs1377141203 703 R>K No gnomAD
rs1331129132 704 R>C No TOPMed
rs1346946863 704 R>H No gnomAD
rs980267265 706 A>T No Ensembl
rs780740899 708 H>R No ExAC
gnomAD
rs1277742301 708 H>Y No TOPMed
rs142716076 712 V>A No ESP
ExAC
TOPMed
gnomAD
rs142716076 712 V>E No ESP
ExAC
TOPMed
gnomAD
rs1415755018 713 K>E No TOPMed
gnomAD
rs372673553 715 V>M No ESP
ExAC
TOPMed
gnomAD
rs1220474079 716 K>R No Ensembl
rs777857435 719 V>L No ExAC
gnomAD
rs777857435 719 V>M No ExAC
gnomAD
rs1223863994 720 H>D No TOPMed
gnomAD
COSM4819151 720 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1893327834 720 H>R No TOPMed
rs1595477132 721 D>G No gnomAD
rs1204345458 721 D>Y No Ensembl
rs1158031130 725 H>N No gnomAD
rs1893326926 726 Q>* No gnomAD
rs1231736947 727 L>V No gnomAD
rs1468707634 728 A>T No gnomAD
rs1433482900 730 Q>H No gnomAD
rs2139459780 730 Q>R No Ensembl
TCGA novel 732 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs767221869 733 I>M No ExAC
TOPMed
gnomAD
rs750228190 733 I>S No ExAC
rs1485218238 733 I>V No gnomAD
rs761471826 734 L>V No ExAC
gnomAD
rs377340354 735 M>T No ESP
ExAC
gnomAD
rs768243510 737 K>N No ExAC
TOPMed
gnomAD
rs1893324796 740 L>S No TOPMed
rs1293512728 742 K>E No gnomAD
rs148812684 742 K>N No ESP
ExAC
TOPMed
gnomAD
rs1595477072 742 K>T No Ensembl
rs1893324039 743 S>A No Ensembl
rs373866056 745 R>L No ESP
ExAC
TOPMed
gnomAD
rs373866056 745 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1430712932 746 E>K No gnomAD
rs369025395 747 R>W No ESP
ExAC
TOPMed
gnomAD
rs1334503033 748 H>R No TOPMed
gnomAD
rs147781622 749 N>K No ESP
ExAC
TOPMed
gnomAD
rs367908402 750 E>K No ESP
TOPMed
gnomAD
rs1011466308 751 M>I No TOPMed
rs764812294 751 M>L No ExAC
gnomAD
rs2139459062 755 V>A No Ensembl
rs947392507 755 V>I No Ensembl
rs1440234999 756 G>D No TOPMed
gnomAD
rs1219291529 756 G>R No TOPMed
gnomAD
rs1219291529 756 G>S No TOPMed
gnomAD
rs776230318 757 T>K No ExAC
gnomAD
rs1354189397 758 I>L No gnomAD
rs1893313932 758 I>M No TOPMed
rs1354189397 758 I>V No gnomAD
rs1257219751 760 D>N No TOPMed
rs1257219751 760 D>Y No TOPMed
rs773562932 762 Y>C No ExAC
TOPMed
gnomAD
rs761250926 762 Y>H No ExAC
gnomAD
rs1053399593 763 E>K No TOPMed
gnomAD
rs762000637 764 R>Q No ExAC
TOPMed
gnomAD
rs747092497 765 E>K No ExAC
gnomAD
rs2139458895 767 A>P No Ensembl
COSM1740089
rs374402137
 767 A>V Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1249287268 768 M>T No gnomAD
rs1480077851 768 M>V No gnomAD
rs747006250 771 D>E No ExAC
gnomAD
rs552060222 771 D>N No Ensembl
rs1310959186 773 N>S No gnomAD
rs1893310790 775 K>Q No TOPMed
rs1309175294 775 K>T No gnomAD
rs1464333227 777 T>A No gnomAD
rs758312268 778 A>G No ExAC
gnomAD
rs758312268 778 A>V No ExAC
gnomAD
rs1380286515 780 N>K No TOPMed
rs948489921 780 N>T No Ensembl
rs747896976 783 L>I No ExAC
TOPMed
gnomAD
TCGA novel 784 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1893247232 785 S>C No Ensembl
rs754583657 786 F>L No ExAC
gnomAD
rs753586356 787 V>M No ExAC
TOPMed
gnomAD
rs371074129 788 D>G No ESP
TOPMed
gnomAD
rs1893246117 793 Q>E No Ensembl
rs1893246117 793 Q>K No Ensembl
rs749965334 796 Q>R No ExAC
gnomAD
rs1485832467 798 E>A No gnomAD
rs202067243 799 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1893245049 799 D>N No TOPMed
gnomAD
rs202067243 799 D>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1335667114 802 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 805 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1292947808 806 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs147925899 807 K>R No ESP
ExAC
TOPMed
gnomAD
rs147925899 807 K>T No ESP
ExAC
TOPMed
gnomAD
rs764583553 808 K>E No ExAC
gnomAD
rs1893243497 812 A>S No TOPMed
gnomAD
rs1893243341 812 A>V No TOPMed
COSM3493944 814 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1386376247 814 W>C No gnomAD
rs763068962 814 W>R No ExAC
gnomAD
rs1327284498 815 E>K No gnomAD
rs1566865374 816 A>V No Ensembl
rs1461545624 817 Q>L No gnomAD
rs1328868864 818 I>M No gnomAD
rs1161157122 818 I>V No gnomAD
rs377033153 819 A>E No ESP
ExAC
TOPMed
gnomAD
rs377033153 819 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194368118 820 E>G No gnomAD
rs149815807 821 I>F No ESP
ExAC
TOPMed
gnomAD
rs149815807 821 I>V No ESP
ExAC
TOPMed
gnomAD
rs868836765 823 Q>* No TOPMed
rs765766020 826 S>N No ExAC
gnomAD
rs754162942 828 E>K No ExAC
gnomAD
rs754162942 828 E>Q No ExAC
gnomAD
rs766537181 829 K>N No ExAC
gnomAD
TCGA novel 830 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1595474588 831 A>S No Ensembl
rs1893201129 831 A>V No gnomAD
rs750491753 832 R>Q No ExAC
TOPMed
gnomAD
rs760767641
COSM4049235
 832 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs890520524 833 G>D No gnomAD
rs890520524 833 G>V No gnomAD
rs1893200417 837 A>V No TOPMed
rs1893200172 840 S>F No TOPMed
rs762802616 841 K>E No ExAC
gnomAD
rs762802616 841 K>Q No ExAC
gnomAD
TCGA novel 842 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2139451018 842 M>V No Ensembl
rs775258543 843 T>I No ExAC
TOPMed
gnomAD
rs775258543 843 T>S No ExAC
TOPMed
gnomAD
rs1350831582 844 E>K No gnomAD
rs1393239915 845 E>Q No Ensembl
rs1253873946 846 L>V No TOPMed
gnomAD
rs1179776450 847 E>K No TOPMed
gnomAD
COSM3493943 847 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2139450879 849 L>F No Ensembl
rs1893198579 850 R>K No Ensembl
rs1893198451 850 R>S No TOPMed
rs1893198335 851 S>C No TOPMed
rs1226118771 851 S>N No gnomAD
rs776302347 852 S>P No ExAC
gnomAD
rs189496293 853 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1359074921 854 L>R No gnomAD
rs749560849 854 L>V No ExAC
TOPMed
gnomAD
rs1893197344 856 S>L No gnomAD
rs777154597 856 S>T No ExAC
gnomAD
rs1893197099 857 R>G No Ensembl
rs373223628 858 T>A No ESP
ExAC
gnomAD
rs1158541124 859 L>V No gnomAD
rs1595472810 860 D>A No Ensembl
rs1319568762 861 P>L No TOPMed
gnomAD
rs1319568762 861 P>Q No TOPMed
gnomAD
rs1319568762 861 P>R No TOPMed
gnomAD
rs1595472779 865 V>G No Ensembl
rs781307670 866 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2139444260 866 R>H No 1000Genomes
rs1893111026 870 K>R No Ensembl
rs1297582154 872 D>G No gnomAD
rs1373367735 875 A>V No TOPMed
gnomAD
rs1361684372 878 E>Q No TOPMed
rs1283301759 881 S>A No gnomAD
rs1410362571 881 S>L No gnomAD
TCGA novel 885 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4049233
rs368109666
 885 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1234297974 888 R>Q No TOPMed
gnomAD
rs1487279455 888 R>W No gnomAD
TCGA novel 889 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs772783051 889 A>T No ExAC
gnomAD
rs1343395143 892 L>V No gnomAD
TCGA novel 893 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1226743911 894 Q>R No gnomAD
rs376060960 895 E>K No ESP
ExAC
TOPMed
gnomAD
rs1302009178 897 L>V No gnomAD
rs774010814 899 K>R No ExAC
TOPMed
gnomAD
rs1595472621 900 V>G No Ensembl
rs1369645777 900 V>I No gnomAD
rs1436455358 902 D>A No gnomAD
rs1305970504 902 D>Y No gnomAD
rs1893104812 903 A>D No TOPMed
rs142018795 903 A>T No ESP
ExAC
TOPMed
gnomAD
rs1893104681 904 N>D No TOPMed
rs200090522 904 N>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4925430 904 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200090522 904 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs200090522 904 N>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1893104003 906 T>I No TOPMed
rs2139443589 907 L>F No Ensembl
rs1893103610 907 L>S No Ensembl
rs1010112663 908 E>G No Ensembl
rs1893035908 909 S>R No TOPMed
rs1403264413 910 K>E No gnomAD
rs368505938 910 K>N No ESP
ExAC
TOPMed
gnomAD
rs1430397174 913 D>H No TOPMed
gnomAD
rs1430397174 913 D>N No TOPMed
gnomAD
rs1893035463 913 D>V No Ensembl
rs1430397174 913 D>Y No TOPMed
gnomAD
rs1893035349 914 S>F No TOPMed
rs747293174 915 E>K No ExAC
TOPMed
gnomAD
rs1172202091 916 A>D No gnomAD
rs1172202091 916 A>G No gnomAD
COSM1368389 918 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1209477360 919 R>G No TOPMed
gnomAD
rs1383622394 919 R>T No TOPMed
gnomAD
COSM4049232 921 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777811682 924 E>A No ExAC
TOPMed
gnomAD
rs979915485 924 E>K No TOPMed
gnomAD
rs1595471008 925 M>R No Ensembl
rs954036769 925 M>V No Ensembl
rs1363591237 927 I>V No TOPMed
rs1234895122 930 K>Q No TOPMed
gnomAD
rs1340917277 932 M>V No TOPMed
gnomAD
rs1893033371 933 E>K No TOPMed
rs779809375 934 E>K No ExAC
TOPMed
gnomAD
rs756091661 935 K>N No ExAC
gnomAD
rs1893032782 937 R>G No TOPMed
rs1011850433 938 A>V No Ensembl
COSM3814282 939 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1456288214 940 T>I No gnomAD
rs1456288214 940 T>S No gnomAD
rs1169851926 941 G>E No gnomAD
rs1246209355 942 L>F No TOPMed
gnomAD
rs376599246 944 L>I No ESP
TOPMed
gnomAD
rs376599246 944 L>V No ESP
TOPMed
gnomAD
rs373398080 945 P>A No ESP
ExAC
TOPMed
gnomAD
rs1212482889 945 P>R No TOPMed
rs1179475383 946 D>G No TOPMed
rs764790988 946 D>N No ExAC
TOPMed
gnomAD
rs764790988 946 D>Y No ExAC
TOPMed
gnomAD
rs777516650 948 Q>R No ExAC
TOPMed
gnomAD
rs1159318563 949 D>E No TOPMed
gnomAD
rs1469832334 949 D>Y No TOPMed
gnomAD
COSM3793488
rs1892868023
 951 I>V Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
TCGA novel 953 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 953 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1414326490 956 N>S No gnomAD
rs200543279 957 T>A No ExAC
TOPMed
gnomAD
rs764862437 959 P>A No ExAC
TOPMed
gnomAD
rs759941973 959 P>H No ExAC
TOPMed
gnomAD
rs764862437 959 P>S No ExAC
TOPMed
gnomAD
rs1040234745 960 L>F No TOPMed
gnomAD
rs766903694 960 L>P No ExAC
gnomAD
rs760979271 961 A>E No ExAC
TOPMed
gnomAD
rs760979271 961 A>G No ExAC
TOPMed
gnomAD
rs773581621 962 H>R No ExAC
gnomAD
TCGA novel 963 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1429625007 965 T>K No gnomAD
rs761918058 968 T>S No ExAC
TOPMed
gnomAD
rs556232471 969 S>N No gnomAD
rs556232471 969 S>T No gnomAD
rs760759588
TCGA novel
 973 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs760759588 973 E>Q No Ensembl
rs377345721 974 Q>H No ESP
TOPMed
rs539199355 974 Q>P No TOPMed
gnomAD
rs539199355 974 Q>R No TOPMed
gnomAD
rs2139408093 975 E>A No Ensembl
rs1324585188 976 T>I No TOPMed
rs373015493 977 Q>E No ESP
TOPMed
rs373015493 977 Q>K No ESP
TOPMed
TCGA novel 978 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774672648 979 P>L No ExAC
TOPMed
gnomAD
rs764250909 981 P>S No ExAC
gnomAD
rs763035580 982 E>K No ExAC
TOPMed
gnomAD
rs142167570 983 A>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142167570 983 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771946677 984 S>C No ExAC
gnomAD
rs771946677 984 S>F No ExAC
gnomAD
rs547015130 985 P>A No TOPMed
gnomAD
rs201476818 985 P>L No 1000Genomes
gnomAD
rs547015130 985 P>S No TOPMed
gnomAD
rs1158789055 986 S>L No gnomAD
rs1445844152 987 M>I No gnomAD
rs754600095 987 M>T No ExAC
TOPMed
gnomAD
rs1415616131 987 M>V No gnomAD
rs1892634865 988 S>A No TOPMed
rs200096986
COSM953599
 988 S>F endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1892634443 989 V>A No TOPMed
rs1456240485 989 V>L No TOPMed
gnomAD
rs1456240485 989 V>M No TOPMed
gnomAD
rs779607293 991 A>V No ExAC
TOPMed
gnomAD
rs750975756 992 S>P No ExAC
gnomAD
TCGA novel 993 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1247029156 994 Q>H No TOPMed
gnomAD
rs1161351674 995 Q>R No TOPMed
gnomAD
rs1595462690 996 E>G No Ensembl
rs769333187 997 D>V No ExAC
TOPMed
gnomAD
rs374316100 998 M>V No ESP
ExAC
TOPMed
gnomAD
rs781685946 1000 R>P No ExAC
TOPMed
gnomAD
rs781685946 1000 R>Q No ExAC
TOPMed
gnomAD
rs960423641 1000 R>W No TOPMed
gnomAD
rs186167635 1002 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1166146982 1003 Q>* No gnomAD
rs1892618320 1003 Q>R No TOPMed
rs2139406425 1004 R>T No Ensembl
rs962655009 1007 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1190204656 1007 A>V No gnomAD
rs1476842864 1008 V>M No TOPMed
gnomAD
rs1016858776 1009 P>L No TOPMed
gnomAD
rs1207773726 1009 P>T No gnomAD
rs1202514739 1011 P>L No gnomAD
rs1218811841 1013 T>M No TOPMed
gnomAD
rs1343898761 1014 Q>R No gnomAD
rs1289940468 1015 A>S No gnomAD
rs1306175978 1017 A>P No TOPMed
gnomAD
rs1306175978 1017 A>S No TOPMed
gnomAD
rs868119630 1019 A>V No Ensembl
rs1026416001 1021 P>L No TOPMed
gnomAD
rs1026416001 1021 P>R No TOPMed
gnomAD
rs1892539787 1023 P>L No TOPMed
rs1181332127 1024 K>E No gnomAD
rs374839429 1025 A>P No ESP
ExAC
gnomAD
rs374839429 1025 A>T No ESP
ExAC
gnomAD
TCGA novel 1025 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs941942131 1028 F>L No TOPMed
gnomAD
rs1892539175 1029 S>G No gnomAD
rs1892539175 1029 S>R No gnomAD
rs1261983545 1030 I>L No TOPMed
TCGA novel 1030 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1249983880 1031 K>R No gnomAD
rs1892538665 1034 S>A No Ensembl
rs1209532969 1035 S>T No gnomAD
rs1595460747 1039 C>S No Ensembl
rs1048432907 1040 S>N No Ensembl
rs1048432907 1040 S>T No Ensembl
rs1258692571 1041 H>Y No gnomAD
rs372111401 1044 S>A No ESP
ExAC
TOPMed
gnomAD
rs1892537262 1048 G>E No gnomAD
rs61733950 1049 L>V No gnomAD
rs755257364 1051 R>P No ExAC
TOPMed
gnomAD
rs755257364 1051 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs766429486 1054 Y>C No ExAC
TOPMed
gnomAD
rs751490803 1055 A>T No ExAC
TOPMed
gnomAD
COSM3493942 1055 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs367927706 1057 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs963853088 1058 V>A No Ensembl
rs1595458911 1060 S>T No Ensembl
COSM697011 1065 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1220016248 1065 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM3793487 1066 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1067 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs140416985 1069 D>E No ESP
ExAC
TOPMed
gnomAD
rs758332208 1070 G>C No ExAC
TOPMed
gnomAD
rs1336802752 1070 G>D No TOPMed
gnomAD
rs758332208 1070 G>S No ExAC
TOPMed
gnomAD
rs752480463 1071 A>T No ExAC
gnomAD
rs765072170 1071 A>V No ExAC
TOPMed
gnomAD
rs759201646 1073 Q>E No ExAC
TOPMed
gnomAD
rs1283001163 1073 Q>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1368387 1073 Q>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776110379 1074 V>M No ExAC
TOPMed
gnomAD
rs1004613613 1076 P>L No Ensembl
VAR_025847
rs34822377
 1077 I>V No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1892440883 1078 P>L No Ensembl
rs1892441005 1078 P>S No Ensembl
rs1029990072 1079 P>A No TOPMed
gnomAD
rs1892440297 1080 E>G No gnomAD
rs772702155 1080 E>K No ExAC
TOPMed
gnomAD
rs772702155 1080 E>Q No ExAC
TOPMed
gnomAD
rs748723581 1081 Q>P No ExAC
gnomAD
rs1466712824 1083 K>E No TOPMed
gnomAD
rs1466712824 1083 K>Q No TOPMed
gnomAD
rs774836834 1084 R>S No ExAC
gnomAD
rs765867653 1085 P>A No TOPMed
gnomAD
rs780088812 1088 V>L No ExAC
TOPMed
gnomAD
rs780088812 1088 V>M No ExAC
TOPMed
gnomAD
rs376059761 1089 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1200571246 1090 V>M No TOPMed
gnomAD
COSM20501
rs1260927406
 1092 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs946145684 1092 R>Q No TOPMed
rs758315719 1094 I>L No ExAC
TOPMed
gnomAD
rs776378296 1094 I>T No ExAC
rs1289391194 1095 G>R No gnomAD
rs1355936852 1096 T>A No TOPMed
rs1445276916 1097 A>V No TOPMed
rs1301772163 1098 Y>H No TOPMed
rs1334546462 1100 G>S No gnomAD
TCGA novel 1103 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs571661306 1104 V>I No Ensembl
rs1487347096 1107 P>A No TOPMed
gnomAD
rs1892404106 1108 T>A No gnomAD
TCGA novel 1108 T>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs759721687 1108 T>M No ExAC
gnomAD
rs1384300410 1109 G>E No TOPMed
gnomAD
rs1595457972 1110 V>G No Ensembl
rs1281732707 1116 R>C No TOPMed
gnomAD
rs1428890014 1116 R>H No gnomAD
rs142564408 1117 A>T No ESP
ExAC
TOPMed
gnomAD
rs1892402177 1118 Y>F No TOPMed
rs768469311 1119 A>G No ExAC
gnomAD
TCGA novel 1119 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768469311 1119 A>V No ExAC
gnomAD
rs779685101 1121 V>I No ExAC
TOPMed
gnomAD
rs779685101 1121 V>L No ExAC
TOPMed
gnomAD
rs1039611600 1123 D>H No gnomAD
rs755934852 1125 K>R No ExAC
TOPMed
gnomAD
rs1248777092 1126 L>I No TOPMed
gnomAD
rs1892400139 1129 Y>* No gnomAD
TCGA novel 1129 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1490323123 1129 Y>H No gnomAD
rs943515361 1130 D>H No Ensembl
TCGA novel 1130 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780931165 1131 L>P No ExAC
rs1595457897 1137 T>P No Ensembl
rs1892399212 1139 P>S No gnomAD
rs1267828637 1142 I>N No TOPMed
rs1267828637 1142 I>T No TOPMed
rs756971709 1142 I>V No ExAC
TOPMed
gnomAD
rs1277468665 1143 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1892397974 1144 S>N No TOPMed
gnomAD
COSM697013 1149 L>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763345731 1149 L>F No ExAC
gnomAD
rs1359377150 1150 R>S No gnomAD
rs1465024027 1151 D>G No TOPMed
gnomAD
rs150060973 1152 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs539521711 1153 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1354986103 1155 S>F No TOPMed
rs1420176623 1161 A>V No TOPMed
gnomAD
rs1052494408 1163 D>G No Ensembl
rs1892249517 1164 V>I No Ensembl
rs201174859 1168 T>A No 1000Genomes
ESP
TOPMed
gnomAD
rs769846883 1169 R>C No ExAC
gnomAD
rs547906994 1169 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs547906994 1169 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1368385 1169 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1269749428 1170 R>Q No TOPMed
gnomAD
rs1239562219 1171 D>N No gnomAD
TCGA novel
rs1892248315
 1172 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1279171271 1174 C>S No TOPMed
gnomAD
rs369632217 1179 T>K No ESP
ExAC
TOPMed
gnomAD
rs369632217
COSM4049230
 1179 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1293777219 1181 S>C No TOPMed
gnomAD
rs1293777219 1181 S>F No TOPMed
gnomAD
rs1464547211 1182 L>F No gnomAD
rs1892192242 1183 L>F No TOPMed
rs1892192110 1184 G>C No gnomAD
RCV001814852
rs1892191977
 1184 G>D No ClinVar
TOPMed
dbSNP
rs1259349822 1185 A>E No TOPMed
gnomAD
rs1259349822 1185 A>G No TOPMed
gnomAD
rs1030181382 1186 P>S No TOPMed
rs781464184 1190 S>C No ExAC
gnomAD
rs781464184 1190 S>G No ExAC
gnomAD
rs1566846568 1190 S>V No Ensembl
rs1291023466 1191 S>L No gnomAD
COSM3814281 1202 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
VAR_070886
rs146298297
 1203 R>K No UniProt
ESP
ExAC
dbSNP
gnomAD
rs368543743 1204 K>Q No ESP
ExAC
TOPMed
gnomAD
rs1407202788 1204 K>R No gnomAD
rs1346688931 1205 W>C No gnomAD
rs766338362 1206 V>I No ExAC
TOPMed
gnomAD
COSM953597 1209 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773038838 1213 Q>R No ExAC
TOPMed
gnomAD
TCGA novel 1215 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771803261 1216 L>F No ExAC
gnomAD
rs1187897758 1217 H>L No TOPMed
rs1461641399 1217 H>Y No TOPMed
gnomAD
rs771945943 1220 R>G No gnomAD
rs538525924 1220 R>Q No ExAC
TOPMed
gnomAD
rs771945943 1220 R>W No gnomAD
rs773947478 1221 L>R No ExAC
gnomAD
rs748732527 1223 N>S No ExAC
gnomAD
rs1250571758 1224 Q>R No gnomAD
rs779603324 1225 V>A No ExAC
TOPMed
gnomAD
rs934380429 1226 V>L No TOPMed
gnomAD
rs934380429 1226 V>M No TOPMed
gnomAD
rs746406995 1227 H>R No ExAC
TOPMed
gnomAD
rs1892185442 1228 V>I No TOPMed
TCGA novel 1229 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747398820 1234 D>N No ExAC
TOPMed
gnomAD
rs1311063319 1235 S>N No gnomAD
rs1892184656 1235 S>R No gnomAD
rs1342134723 1236 S>L No TOPMed
gnomAD
rs758761562 1238 P>H No ExAC
gnomAD
rs765283166
COSM3493940
 1239 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765283166 1239 L>I No ExAC
TOPMed
gnomAD
rs1428457211 1240 I>L No TOPMed
COSM953596 1245 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756048171 1246 A>V No ExAC
gnomAD
rs1471104141 1247 A>D No gnomAD
COSM953595 1248 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767517705 1248 I>T No ExAC
gnomAD
rs1892182282 1248 I>V No gnomAD
rs774139239 1249 V>M No ExAC
TOPMed
gnomAD
rs1216614824 1251 A>G No TOPMed
gnomAD
rs1449911639 1251 A>T No Ensembl
rs748549609 1252 D>G No ExAC
TOPMed
gnomAD
rs1245100358 1255 A>T No TOPMed
rs1293446771 1256 V>A No TOPMed
gnomAD
rs1306608589 1256 V>F No TOPMed
gnomAD
rs1203790110 1257 G>S No TOPMed
rs202026444 1262 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs202026444 1262 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs751534717 1263 Y>C No ExAC
TOPMed
gnomAD
rs777715596 1265 I>L No ExAC
gnomAD
rs1423522944 1266 E>Q No TOPMed
gnomAD
rs1382859316 1268 T>P No gnomAD
rs140036206 1269 R>G No ESP
ExAC
TOPMed
gnomAD
rs752549385 1269 R>L No ExAC
TOPMed
gnomAD
rs752549385 1269 R>Q No ExAC
TOPMed
gnomAD
TCGA novel 1270 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1892057228 1271 V>A No Ensembl
rs770015832 1272 I>M No ExAC
TOPMed
gnomAD
rs1393940175 1273 V>A No TOPMed
gnomAD
rs745881611 1273 V>F No ExAC
TOPMed
gnomAD
rs1393940175 1273 V>G No TOPMed
gnomAD
rs745881611 1273 V>I No ExAC
TOPMed
gnomAD
rs1202945188 1274 R>C No TOPMed
gnomAD
rs1595450511 1274 R>H No Ensembl
rs150629546 1276 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1277 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1454734405 1277 D>Y No gnomAD
rs778749230 1278 C>F No ExAC
TOPMed
gnomAD
rs778749230 1278 C>S No ExAC
TOPMed
gnomAD
rs778749230 1278 C>Y No ExAC
TOPMed
gnomAD
rs754754131 1281 V>L No 1000Genomes
ExAC
gnomAD
rs779790085 1282 H>Q No ExAC
gnomAD
rs749051826 1282 H>Y No ExAC
TOPMed
gnomAD
rs1595450479 1283 Q>* No Ensembl
rs1385950616 1283 Q>R No gnomAD
rs1321818416 1284 I>F No TOPMed
gnomAD
rs749941853 1285 E>G No ExAC
rs764023925
COSM239242
 1285 E>K Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1595450440 1288 P>L No TOPMed
rs1485493716 1288 P>S No gnomAD
rs752062947 1289 R>K No ExAC
gnomAD
TCGA novel 1290 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1892052545 1291 K>E No Ensembl
rs1249602705 1291 K>N No Ensembl
rs1480011161 1292 I>M No TOPMed
gnomAD
rs763316431 1292 I>T No ExAC
gnomAD
rs1260603179 1292 I>V No TOPMed
gnomAD
rs775835433 1293 V>I No ExAC
TOPMed
gnomAD
COSM4049229 1294 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765175299 1295 L>I No ExAC
TOPMed
gnomAD
rs866343922 1296 L>F No Ensembl
rs759811615 1299 R>W No ExAC
gnomAD
rs1268497380 1300 N>H No gnomAD
rs1340448395 1300 N>S No TOPMed
gnomAD
rs1407316427 1303 V>A No gnomAD
rs771002666 1304 H>Q No ExAC
gnomAD
rs1034656188 1304 H>R No Ensembl
rs1364251429 1304 H>Y No TOPMed
gnomAD
rs1162776652 1305 L>V No gnomAD
COSM1235984
rs905113104
 1306 Y>C haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1375056196 1307 P>A No gnomAD
rs1341355633 1307 P>L No gnomAD
rs1375056196 1307 P>S No gnomAD
rs1427632487 1309 S>L No TOPMed
gnomAD
rs1278543765 1310 S>A No TOPMed
rs1595450310 1312 D>V No Ensembl
rs749094142 1314 A>E No ExAC
TOPMed
gnomAD
rs749094142 1314 A>G No ExAC
TOPMed
gnomAD
rs749094142 1314 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_040838 1315 E>K a lung large cell carcinoma sample; somatic mutation [UniProt] No UniProt
rs1566843791 1317 S>C No Ensembl
rs1226248828 1317 S>I No TOPMed
gnomAD
rs1226248828 1317 S>T No TOPMed
gnomAD
rs1892046481 1322 L>V No TOPMed
gnomAD
rs201120777 1323 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs201120777 1323 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4492348
rs1566843777
 1323 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs764593988 1326 K>R No ExAC
gnomAD
rs1465064771 1327 G>S No gnomAD
rs1892045402 1328 C>S No gnomAD
rs2139363710
RCV001390771
 1329 Q>* No ClinVar
Ensembl
dbSNP
rs758892375 1330 L>F No ExAC
gnomAD
rs753046475 1331 M>L No ExAC
TOPMed
gnomAD
rs753046475 1331 M>V No ExAC
TOPMed
gnomAD
rs1595450226 1332 A>P No Ensembl
COSM1166004
rs539439670
 1333 T>M large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1595450223 1333 T>P No Ensembl
rs776785413 1334 A>V No ExAC
gnomAD
rs766525858 1335 T>A No ExAC
TOPMed
gnomAD
rs766525858 1335 T>P No ExAC
TOPMed
gnomAD
rs2139363582 1336 L>R No Ensembl
rs767751908 1337 K>E No ExAC
TOPMed
gnomAD
COSM953593
rs767751908
 1337 K>Q endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs768628164 1337 K>R No ExAC
TOPMed
gnomAD
rs1892043395 1338 R>K No Ensembl
rs1393359065 1340 S>P No TOPMed
rs763037888 1341 G>A No ExAC
TOPMed
gnomAD
rs759807460 1342 T>I No ExAC
TOPMed
gnomAD
rs775397689 1342 T>P No ExAC
gnomAD
rs775397689 1342 T>S No ExAC
gnomAD
rs745676686 1343 C>F No ExAC
gnomAD
rs1164558007 1345 F>L No gnomAD
rs1324880466 1348 V>A No gnomAD
rs1324880466 1348 V>G No gnomAD
COSM4049228
rs746522635
 1348 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777205662 1350 R>W No ExAC
TOPMed
gnomAD
rs143564466 1351 L>M No ESP
ExAC
TOPMed
gnomAD
rs753163105 1352 I>M No ExAC
gnomAD
rs1595450117 1352 I>V No Ensembl
rs1398437447 1353 L>F No gnomAD
rs2139363277 1355 Y>* No Ensembl
rs755279217 1355 Y>C No ExAC
gnomAD
rs1401243402 1358 Q>E No gnomAD
rs1892039555 1358 Q>H No TOPMed
rs1170684714 1358 Q>R No gnomAD
rs754160186 1359 R>K No ExAC
gnomAD
rs528394229 1360 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1892038948 1361 K>R No TOPMed
rs1892038662 1366 K>R No Ensembl
rs1892038172 1368 N>K No Ensembl
rs199903511 1368 N>S No 1000Genomes
TOPMed
gnomAD
rs1437416700 1368 N>Y No gnomAD
rs1194977739 1371 V>L No TOPMed
gnomAD
rs1892037577 1372 A>V No TOPMed
rs1892037422 1373 P>L No Ensembl
rs767538657 1374 G>R No ExAC
gnomAD
rs767538657 1374 G>S No ExAC
gnomAD
rs762012281 1375 S>R No ExAC
gnomAD
rs774671721 1376 V>M No Ensembl
rs149319188 1379 L>V No ESP
TOPMed
gnomAD
rs1002396118 1380 A>S No TOPMed
rs1002396118 1380 A>T No TOPMed
rs759334009 1380 A>V No ExAC
gnomAD
rs1595450021 1381 V>G No Ensembl
TCGA novel 1383 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770601956 1384 D>E No ExAC
TOPMed
rs1370672003 1384 D>N No Ensembl
rs746689190 1387 C>F No ExAC
gnomAD
rs1167686182 1388 V>A No TOPMed
gnomAD
rs777304874 1390 Y>C No ExAC
TOPMed
gnomAD
rs371972643 1390 Y>H No ESP
TOPMed
gnomAD
rs777304874 1390 Y>S No ExAC
TOPMed
gnomAD
rs529138453 1391 P>L No 1000Genomes
ExAC
gnomAD
rs1595449952 1394 F>V No Ensembl
rs528455993 1395 C>W No gnomAD
rs1892032285 1397 L>M No Ensembl
rs755548130 1398 S>G No ExAC
TOPMed
gnomAD
rs1595449940 1399 I>M No Ensembl
rs1566843363 1400 Q>L No Ensembl
rs1566843363 1400 Q>R No Ensembl
COSM5940426 1401 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1334239878 1401 G>R No TOPMed
gnomAD
rs548093157 1403 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs141912208 1404 Q>P No ESP
ExAC
TOPMed
gnomAD
rs141912208 1404 Q>R No ESP
ExAC
TOPMed
gnomAD
rs1892030808 1406 L>V No TOPMed
rs1892030505 1407 N>D No Ensembl
rs1264618746 1409 V>I No gnomAD
rs145737227 1411 P>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761922472 1411 P>H No ExAC
TOPMed
gnomAD
rs761922472 1411 P>L No ExAC
TOPMed
gnomAD
rs145737227 1411 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1294074599 1412 N>D No TOPMed
gnomAD
rs1294074599 1412 N>H No TOPMed
gnomAD
rs1892029266 1412 N>K No Ensembl
rs751692127 1412 N>S No ExAC
TOPMed
gnomAD
rs751692127 1412 N>T No ExAC
TOPMed
gnomAD
rs1355965084 1414 P>L No gnomAD
rs1282194155 1415 S>T No gnomAD
rs1892028717 1415 S>W No Ensembl
rs1326806291 1416 L>F No TOPMed
gnomAD
rs1892028040 1417 A>T No TOPMed
COSM1368382
rs776462657
 1417 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1163709689 1419 L>F No gnomAD
rs1427271427 1423 S>C No TOPMed
gnomAD
rs773912384 1424 F>S No ExAC
gnomAD
rs140245177 1425 D>H No ESP
ExAC
TOPMed
gnomAD
rs140245177 1425 D>N No ESP
ExAC
TOPMed
gnomAD
rs1271109107 1427 L>R No gnomAD
rs780645988 1431 E>D No ExAC
gnomAD
rs1287907520
COSM953591
 1433 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1287907520 1433 E>Q No gnomAD
rs756382043 1434 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs151083985 1434 S>R No ESP
ExAC
TOPMed
gnomAD
rs1277362736 1435 E>K No TOPMed
gnomAD
COSM3786213 1437 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1347373976 1440 C>* No gnomAD
rs1566843151 1443 H>N No Ensembl
rs1566843151 1443 H>Y No Ensembl
rs944799076 1444 M>V No TOPMed
gnomAD
rs1892022642 1448 V>M No Ensembl
rs766354752 1450 P>L No ExAC
TOPMed
gnomAD
rs1477118006 1451 Q>R No gnomAD
rs773059863 1453 R>G No ExAC
gnomAD
rs577521745 1453 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs773059863 1453 R>W No ExAC
gnomAD
rs1892020736 1455 A>S No Ensembl
rs1206839670 1456 R>C No gnomAD
rs1458414574 1456 R>H No TOPMed
gnomAD
rs1221432217 1457 A>G No TOPMed
gnomAD
rs564119735
COSM432695
 1457 A>T breast [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1221432217 1457 A>V No TOPMed
gnomAD
rs1892019501 1458 Q>L No gnomAD
rs1892019355 1459 E>D No gnomAD
rs775799497 1461 M>I No ExAC
gnomAD
rs1892019190 1461 M>L No TOPMed
rs770334280 1463 P>S No ExAC
gnomAD
rs763306847 1465 A>G No ExAC
gnomAD
rs763306847 1465 A>V No ExAC
gnomAD
rs140674190 1466 P>S No ESP
ExAC
rs956441357 1467 V>I No Ensembl
rs546461837 1468 A>S No ExAC
TOPMed
gnomAD
rs546461837 1468 A>T No ExAC
TOPMed
gnomAD
rs1408771029 1469 C>F No TOPMed
gnomAD
rs1408771029 1469 C>Y No TOPMed
gnomAD
rs771381267 1473 P>L No ExAC
gnomAD
rs747400742 1474 T>A No ExAC
TOPMed
gnomAD
rs1313865039 1474 T>I No TOPMed
gnomAD
rs747400742 1474 T>P No ExAC
TOPMed
gnomAD
rs903725198 1475 H>Y No Ensembl
rs146870461 1476 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146870461 1476 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748164773 1477 T>M No ExAC
TOPMed
gnomAD
TCGA novel 1479 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1048630181 1480 S>R No TOPMed
gnomAD
rs1276345638 1481 E>K No TOPMed
gnomAD
rs1426764810 1481 E>V No gnomAD
rs1359290677 1484 V>L No TOPMed
gnomAD
rs1359290677 1484 V>M No TOPMed
gnomAD
COSM4837716 1485 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2139347297 1485 D>G No Ensembl
rs61745673 1485 D>N No Ensembl
rs1421900220 1486 V>I No TOPMed
gnomAD
rs1194354927 1490 R>C No gnomAD
rs1487900395 1490 R>H No gnomAD
rs1260441132 1491 T>A No gnomAD
rs1488606199 1492 M>I No gnomAD
rs1264559702 1495 V>M No gnomAD
TCGA novel 1496 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1891831723 1497 T>A No TOPMed
gnomAD
rs1320343582 1497 T>S No TOPMed
gnomAD
rs376224473 1499 G>S No ESP
ExAC
TOPMed
gnomAD
rs972830251 1501 R>Q No TOPMed
gnomAD
rs529283722 1501 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs1402233925 1502 R>K No gnomAD
rs773420791 1503 I>V No ExAC
gnomAD
rs2139346627 1505 P>T No Ensembl
rs1891824675 1507 N>D No TOPMed
rs1891824675
COSM226304
 1507 N>H NS [Cosmic] No cosmic curated
TOPMed
rs774578569 1507 N>S No ExAC
gnomAD
rs868573029 1508 S>F No Ensembl
rs368931708 1510 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368931708 1510 G>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749362454 1512 L>F No ExAC
gnomAD
rs1247603618 1513 N>S No TOPMed
rs1247603618 1513 N>T No TOPMed
rs1891823520 1514 L>H No gnomAD
rs775600626 1515 L>F No ExAC
TOPMed
gnomAD
rs770829901 1516 N>S No ExAC
TOPMed
gnomAD
rs770829901 1516 N>T No ExAC
TOPMed
gnomAD
rs201876066 1517 C>* No ExAC
gnomAD
rs1891822723 1517 C>F No Ensembl
rs1891822816 1517 C>R No TOPMed
rs903757678 1518 E>G No Ensembl
rs1891822438 1518 E>K No TOPMed
gnomAD
rs777601390 1519 P>T No ExAC
TOPMed
gnomAD
rs747908716
COSM1188912
 1521 R>C lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs778561558 1521 R>H No ExAC
TOPMed
gnomAD
rs747908716 1521 R>S No ExAC
TOPMed
gnomAD
rs138717678 1524 Y>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs1380358092 1525 F>L No gnomAD
rs750897008
TCGA novel
 1529 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
rs200886335 1530 S>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs767925910 1530 S>L No ExAC
TOPMed
gnomAD
rs1891820589 1531 G>R No TOPMed
rs202016085 1532 A>E No ESP
ExAC
TOPMed
gnomAD
rs749106487 1532 A>T No ExAC
gnomAD
rs202016085 1532 A>V No ESP
ExAC
TOPMed
gnomAD
rs745374413 1535 N>S No ExAC
gnomAD
rs202209179 1536 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs202209179 1536 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs2139345742 1537 P>A No Ensembl
rs752024361 1537 P>L No ExAC
gnomAD
rs752024361 1537 P>R No ExAC
gnomAD
rs758705817 1538 D>G No ExAC
gnomAD
rs1200225915 1538 D>H No gnomAD
rs1216698851 1539 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs765442114 1539 T>I No ExAC
gnomAD
rs759726532 1540 S>C No ExAC
TOPMed
gnomAD
rs1474360437 1540 S>P No Ensembl
rs760828996 1541 D>E No ExAC
TOPMed
gnomAD
rs766329158 1541 D>G No ExAC
gnomAD
rs1009900223 1541 D>N No TOPMed
gnomAD
rs544013491 1542 N>D No gnomAD
rs1310084124 1543 S>C No TOPMed
gnomAD
rs774370821 1543 S>N No ExAC
gnomAD
rs2139345596 1544 K>R No Ensembl
rs1427386882 1546 Q>H No gnomAD
rs762832845 1547 M>I No ExAC
gnomAD
rs768715462 1547 M>V No ExAC
gnomAD
rs1400235479 1548 L>V No TOPMed
gnomAD
rs1449283610 1549 R>C No gnomAD
COSM1732750
rs1251445406
 1549 R>H pancreas [Cosmic] No cosmic curated
gnomAD
rs1251445406 1549 R>P No gnomAD
rs775479309 1550 T>A No ExAC
gnomAD
rs1395543529 1550 T>S No TOPMed
rs1019328882 1551 R>S No TOPMed
gnomAD
rs1891810515 1552 S>T No TOPMed
rs1335094844 1554 R>S No TOPMed
gnomAD
rs373755648 1555 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1891810185 1555 R>W No Ensembl
rs1218057718 1557 V>A No gnomAD
rs780932163 1557 V>I No ExAC
TOPMed
gnomAD
rs1891809454 1559 K>E No TOPMed
rs770300795 1559 K>R No ExAC
gnomAD
rs1891809128
COSM697016
 1562 E>K lung [Cosmic] No cosmic curated
TOPMed
rs2139345371 1563 E>G No Ensembl
COSM697018 1564 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1891808684 1568 Q>H No TOPMed
rs1416279074
COSM1368380
 1570 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs140004721 1570 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1313393417 1572 M>T No gnomAD
rs1414220354 1572 M>V No gnomAD
rs1191552046 1574 R>K No TOPMed
rs139323146 1575 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1264728476 1579 R>K No gnomAD
rs1891801585 1579 R>S No Ensembl
TCGA novel 1581 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1566839125 1581 K>R No TOPMed
rs1432873707 1582 M>V No TOPMed
gnomAD
rs978643502 1585 N>S No TOPMed
gnomAD
rs1379502143 1587 T>I No TOPMed
gnomAD
rs1216621400 1592 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1351709514 1593 A>V No gnomAD
rs767750407 1595 M>V No ExAC
TOPMed
gnomAD
COSM3814279 1598 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757447340 1599 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1323922137 1600 G>S No TOPMed
gnomAD
COSM1514837
rs1313835255
COSM6139914
 1601 M>I lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
TOPMed
gnomAD
NCI-TCGA Cosmic
rs1459972650 1602 Q>R No Ensembl
rs1891799572 1603 V>L No TOPMed
rs759189098 1606 D>A No ExAC
gnomAD
rs765236814 1606 D>H No ExAC
gnomAD
rs765236814 1606 D>Y No ExAC
gnomAD
rs763551730 1610 S>I No ExAC
gnomAD
rs1339244595 1611 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1249699952 1612 V>M No gnomAD
rs1469719693 1613 P>H No TOPMed
gnomAD
rs1469719693 1613 P>L No TOPMed
gnomAD
rs142790424 1614 P>A No ESP
ExAC
gnomAD
rs781501373 1614 P>H No ExAC
TOPMed
gnomAD
rs781501373 1614 P>L No ExAC
TOPMed
gnomAD
rs781501373 1614 P>R No ExAC
TOPMed
gnomAD
rs1280778797 1615 S>C No TOPMed
gnomAD
rs1280778797 1615 S>F No TOPMed
gnomAD
rs781316314 1615 S>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1595443617 1615 S>P No Ensembl
rs1280778797 1615 S>Y No TOPMed
gnomAD
rs546966091 1616 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs777958516 1618 E>G No ExAC
gnomAD
rs138830696 1620 P>L No ESP
TOPMed
gnomAD
COSM4049227 1620 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs562034984 1621 G>C No 1000Genomes
ExAC
gnomAD
rs1595443584 1621 G>D No Ensembl
rs1566838020 1622 P>A No Ensembl
rs755838432 1622 P>L No ExAC
gnomAD
rs148797004 1623 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148797004 1623 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1891735111 1624 P>R No Ensembl
rs750999657 1624 P>T No ExAC
gnomAD
rs763623314 1625 T>P No ExAC
TOPMed
gnomAD
rs763623314 1625 T>S No ExAC
TOPMed
gnomAD
rs764828871 1626 N>I No ExAC
TOPMed
gnomAD
rs764828871 1626 N>S No ExAC
TOPMed
gnomAD
rs764828871 1626 N>T No ExAC
TOPMed
gnomAD
TCGA novel 1627 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1483645258 1627 L>V No TOPMed
gnomAD
rs368512848 1628 A>T No ESP
ExAC
gnomAD
rs759976196 1628 A>V No ExAC
TOPMed
gnomAD
rs777195789 1629 R>C No ExAC
gnomAD
rs771256532 1629 R>H No ExAC
TOPMed
gnomAD
rs771256532 1629 R>L No ExAC
TOPMed
gnomAD
rs747297506 1630 Q>R No ExAC
TOPMed
gnomAD
rs1566837953 1631 P>R No Ensembl
rs773328858 1632 P>L No ExAC
gnomAD
rs772132826 1633 S>T No ExAC
gnomAD
rs56412851
VAR_040839
 1633 S>Y No UniProt
1000Genomes
ExAC
dbSNP
gnomAD
rs1452095712 1634 R>S No TOPMed
rs1360690370 1635 N>K No gnomAD
rs562948212 1635 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1469993209 1637 P>L No gnomAD
rs1157623182 1637 P>S No TOPMed
gnomAD
rs1208737543 1640 S>L No TOPMed
gnomAD
rs1256915996 1640 S>P No gnomAD
rs1287079702
COSM3493934
 1642 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs757029829 1643 S>A No ExAC
gnomAD
rs1251789116 1645 G>V No TOPMed
rs1467901454 1646 G>A No gnomAD
rs1467901454 1646 G>E No gnomAD
rs80130415 1647 S>L No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1648 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1648 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1891722930 1649 P>A No Ensembl
rs763037239 1650 S>C No ExAC
TOPMed
gnomAD
rs763037239 1650 S>G No ExAC
TOPMed
gnomAD
rs1891722668 1650 S>I No TOPMed
rs201627729 1651 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3493933
rs746810463
 1652 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 1653 V>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs777479076 1653 V>G No ExAC
gnomAD
rs566836182 1653 V>M No Ensembl
rs1891721651 1654 P>A No TOPMed
gnomAD
rs1891721547 1654 P>L No TOPMed
rs1891721651 1654 P>S No TOPMed
gnomAD
rs1891721453 1655 L>P No TOPMed
rs1370756827 1656 R>K No TOPMed
gnomAD
rs1026746039 1657 S>R No Ensembl
rs138426317 1658 M>L No ESP
ExAC
TOPMed
gnomAD
rs1450205910 1658 M>T No TOPMed
rs138426317 1658 M>V No ESP
ExAC
TOPMed
gnomAD
rs754471450 1659 S>F No ExAC
gnomAD
rs1314054576 1659 S>T No TOPMed
gnomAD
rs753465444 1660 D>H No ExAC
gnomAD
rs1382376082 1661 P>A No TOPMed
rs1382376082 1661 P>T No TOPMed
rs2139339348 1662 D>H No Ensembl
rs1453956201 1667 K>R No TOPMed
gnomAD
rs756627458 1668 E>* No ExAC
gnomAD
rs750766228 1668 E>V No ExAC
gnomAD
rs1287785304 1669 P>L No TOPMed
gnomAD
rs750844426 1669 P>S No ExAC
gnomAD
rs781727740 1670 D>E No ExAC
gnomAD
rs1891507761 1670 D>N No TOPMed
rs867664425 1671 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1891507517 1671 S>T No TOPMed
rs867664425 1671 S>W No TOPMed
gnomAD
rs1280193003 1673 S>F No gnomAD
rs1891506706 1674 T>N No Ensembl
rs1595438845 1674 T>P No Ensembl
rs764290721 1675 K>E No ExAC
gnomAD
rs1595438835
COSM1477380
 1675 K>N Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs758672847 1675 K>R No ExAC
gnomAD
rs535677589 1676 H>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1891506186 1676 H>R No TOPMed
COSM4846197 1677 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768331940 1678 T>A No Ensembl
COSM953589 1678 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1679 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765191399 1680 S>L No ExAC
gnomAD
rs1891505335 1681 N>S No TOPMed
rs1595438792 1684 N>T No Ensembl
RCV001771494
rs2139325341
 1685 P>L No ClinVar
Ensembl
dbSNP
rs1364479548 1685 P>T No TOPMed
gnomAD
rs767627879 1687 G>C No 1000Genomes
ExAC
gnomAD
rs767627879 1687 G>S No 1000Genomes
ExAC
gnomAD
rs1051697726 1687 G>V No Ensembl
rs1891504148 1688 P>L No gnomAD
rs1473965879 1689 P>L No gnomAD
rs1891503899 1689 P>S No TOPMed
COSM3493932 1691 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4846255
rs1485309676
 1693 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1485309676 1693 S>F No gnomAD
rs760303410 1695 H>D No ExAC
TOPMed
gnomAD
rs760303410 1695 H>N No ExAC
TOPMed
gnomAD
rs775226335 1695 H>R No ExAC
TOPMed
gnomAD
rs760303410 1695 H>Y No ExAC
TOPMed
gnomAD
rs1246903938 1696 R>G No TOPMed
gnomAD
rs562551309 1696 R>K No ExAC
TOPMed
gnomAD
rs1891501960 1699 L>P No gnomAD
rs1233179130 1700 P>A No gnomAD
rs1233179130 1700 P>S No gnomAD
rs140640502 1701 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1701 L>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs140640502 1701 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758823144 1702 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs758823144 1702 E>Q No ExAC
TOPMed
gnomAD
rs1891500630 1703 G>D No TOPMed
rs1891500276 1704 L>P No Ensembl
rs1474790652 1704 L>V No TOPMed
gnomAD
rs1891500165 1706 Q>* No TOPMed
rs765510912 1707 P>L No ExAC
TOPMed
gnomAD
rs765510912 1707 P>Q No ExAC
TOPMed
gnomAD
rs752816236 1707 P>S No ExAC
gnomAD
rs1459767285 1709 C>G No gnomAD
rs1595438671 1711 T>P No Ensembl

1 associated diseases with Q9Y5S2

[MIM: 619841]: Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS)

A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present. . Note=The disease is caused by variants affecting the gene represented in this entry.

15 regional properties for Q9Y5S2

Type Name Position InterPro Accession
domain CRIB domain 1583 - 1618 IPR000095
domain Protein kinase domain 76 - 342 IPR000719
domain AGC-kinase, C-terminal 343 - 413 IPR000961
domain Citron homology (CNH) domain 1240 - 1519 IPR001180
domain Pleckstrin homology domain 1095 - 1216 IPR001849
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 1025 - 1076 IPR002219
active_site Serine/threonine-protein kinase, active site 196 - 208 IPR008271
domain Myotonic dystrophy protein kinase, coiled coil 878 - 939 IPR014930
binding_site Protein kinase, ATP binding site 82 - 105 IPR017441
domain Diacylglycerol/phorbol-ester binding 1023 - 1037 IPR020454-1
domain Diacylglycerol/phorbol-ester binding 1039 - 1048 IPR020454-2
domain Diacylglycerol/phorbol-ester binding 1052 - 1063 IPR020454-3
domain Diacylglycerol/phorbol-ester binding 1064 - 1076 IPR020454-4
domain KELK-motif containing domain 528 - 606 IPR031597
domain Serine/threonine-protein kinase MRCK beta, catalytic domain 3 - 411 IPR042718

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Cell membrane ; Peripheral membrane protein ; Cytoplasmic side
  • Cell junction
  • Cell projection, lamellipodium
  • Displays a dispersed punctate distribution and concentrates along the cell periphery, especially at the leading edge and cell-cell junction
  • This concentration is PH-domain dependent (By similarity)
  • Detected at the leading edge of migrating cells
  • Localization at the leading edge of migrating cells requires interaction with catalytically active CDC42 (PubMed:21240187)
  • Localizes in the lamellipodium in a FAM89B/LRAP25-dependent manner (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
actomyosin Any complex of actin, myosin, and accessory proteins.
cell leading edge The area of a motile cell closest to the direction of movement.
cell-cell junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
magnesium ion binding Binding to a magnesium (Mg) ion.
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions
protein-containing complex binding Binding to a macromolecular complex.
small GTPase binding Binding to a small monomeric GTPase.

7 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actomyosin structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues.
cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
establishment or maintenance of cell polarity Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
protein phosphorylation The process of introducing a phosphate group on to a protein.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q28021 ROCK2 Rho-associated protein kinase 2 Bos taurus (Bovine) SS
Q9W1B0 gek Serine/threonine-protein kinase Genghis Khan Drosophila melanogaster (Fruit fly) SS
O75116 ROCK2 Rho-associated protein kinase 2 Homo sapiens (Human) SS
Q13464 ROCK1 Rho-associated protein kinase 1 Homo sapiens (Human) SS
Q5VT25 CDC42BPA Serine/threonine-protein kinase MRCK alpha Homo sapiens (Human) EV
P70336 Rock2 Rho-associated protein kinase 2 Mus musculus (Mouse) SS
Q3UU96 Cdc42bpa Serine/threonine-protein kinase MRCK alpha Mus musculus (Mouse) SS
P70335 Rock1 Rho-associated protein kinase 1 Mus musculus (Mouse) SS
Q80UW5 Cdc42bpg Serine/threonine-protein kinase MRCK gamma Mus musculus (Mouse) PR
Q7TT50 Cdc42bpb Serine/threonine-protein kinase MRCK beta Mus musculus (Mouse) SS
M3TYT0 ROCK2 Rho-associated protein kinase 2 Sus scrofa (Pig) SS
O54874 Cdc42bpa Serine/threonine-protein kinase MRCK alpha Rattus norvegicus (Rat) SS
Q62868 Rock2 Rho-associated protein kinase 2 Rattus norvegicus (Rat) EV
Q63644 Rock1 Rho-associated protein kinase 1 Rattus norvegicus (Rat) SS
Q7TT49 Cdc42bpb Serine/threonine-protein kinase MRCK beta Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MSAKVRLKKL EQLLLDGPWR NESALSVETL LDVLVCLYTE CSHSALRRDK YVAEFLEWAK
70 80 90 100 110 120
PFTQLVKEMQ LHREDFEIIK VIGRGAFGEV AVVKMKNTER IYAMKILNKW EMLKRAETAC
130 140 150 160 170 180
FREERDVLVN GDCQWITALH YAFQDENHLY LVMDYYVGGD LLTLLSKFED KLPEDMARFY
190 200 210 220 230 240
IGEMVLAIDS IHQLHYVHRD IKPDNVLLDV NGHIRLADFG SCLKMNDDGT VQSSVAVGTP
250 260 270 280 290 300
DYISPEILQA MEDGMGKYGP ECDWWSLGVC MYEMLYGETP FYAESLVETY GKIMNHEERF
310 320 330 340 350 360
QFPSHVTDVS EEAKDLIQRL ICSRERRLGQ NGIEDFKKHA FFEGLNWENI RNLEAPYIPD
370 380 390 400 410 420
VSSPSDTSNF DVDDDVLRNT EILPPGSHTG FSGLHLPFIG FTFTTESCFS DRGSLKSIMQ
430 440 450 460 470 480
SNTLTKDEDV QRDLEHSLQM EAYERRIRRL EQEKLELSRK LQESTQTVQS LHGSSRALSN
490 500 510 520 530 540
SNRDKEIKKL NEEIERLKNK IADSNRLERQ LEDTVALRQE REDSTQRLRG LEKQHRVVRQ
550 560 570 580 590 600
EKEELHKQLV EASERLKSQA KELKDAHQQR KLALQEFSEL NERMAELRAQ KQKVSRQLRD
610 620 630 640 650 660
KEEEMEVATQ KVDAMRQEMR RAEKLRKELE AQLDDAVAEA SKERKLREHS ENFCKQMESE
670 680 690 700 710 720
LEALKVKQGG RGAGATLEHQ QEISKIKSEL EKKVLFYEEE LVRREASHVL EVKNVKKEVH
730 740 750 760 770 780
DSESHQLALQ KEILMLKDKL EKSKRERHNE MEEAVGTIKD KYERERAMLF DENKKLTAEN
790 800 810 820 830 840
EKLCSFVDKL TAQNRQLEDE LQDLAAKKES VAHWEAQIAE IIQWVSDEKD ARGYLQALAS
850 860 870 880 890 900
KMTEELEALR SSSLGSRTLD PLWKVRRSQK LDMSARLELQ SALEAEIRAK QLVQEELRKV
910 920 930 940 950 960
KDANLTLESK LKDSEAKNRE LLEEMEILKK KMEEKFRADT GLKLPDFQDS IFEYFNTAPL
970 980 990 1000 1010 1020
AHDLTFRTSS ASEQETQAPK PEASPSMSVA ASEQQEDMAR PPQRPSAVPL PTTQALALAG
1030 1040 1050 1060 1070 1080
PKPKAHQFSI KSFSSPTQCS HCTSLMVGLI RQGYACEVCS FACHVSCKDG APQVCPIPPE
1090 1100 1110 1120 1130 1140
QSKRPLGVDV QRGIGTAYKG HVKVPKPTGV KKGWQRAYAV VCDCKLFLYD LPEGKSTQPG
1150 1160 1170 1180 1190 1200
VIASQVLDLR DDEFSVSSVL ASDVIHATRR DIPCIFRVTA SLLGAPSKTS SLLILTENEN
1210 1220 1230 1240 1250 1260
EKRKWVGILE GLQSILHKNR LRNQVVHVPL EAYDSSLPLI KAILTAAIVD ADRIAVGLEE
1270 1280 1290 1300 1310 1320
GLYVIEVTRD VIVRAADCKK VHQIELAPRE KIVILLCGRN HHVHLYPWSS LDGAEGSFDI
1330 1340 1350 1360 1370 1380
KLPETKGCQL MATATLKRNS GTCLFVAVKR LILCYEIQRT KPFHRKFNEI VAPGSVQCLA
1390 1400 1410 1420 1430 1440
VLRDRLCVGY PSGFCLLSIQ GDGQPLNLVN PNDPSLAFLS QQSFDALCAV ELESEEYLLC
1450 1460 1470 1480 1490 1500
FSHMGLYVDP QGRRARAQEL MWPAAPVACS CSPTHVTVYS EYGVDVFDVR TMEWVQTIGL
1510 1520 1530 1540 1550 1560
RRIRPLNSEG TLNLLNCEPP RLIYFKSKFS GAVLNVPDTS DNSKKQMLRT RSKRRFVFKV
1570 1580 1590 1600 1610 1620
PEEERLQQRR EMLRDPELRS KMISNPTNFN HVAHMGPGDG MQVLMDLPLS AVPPSQEERP
1630 1640 1650 1660 1670 1680
GPAPTNLARQ PPSRNKPYIS WPSSGGSEPS VTVPLRSMSD PDQDFDKEPD SDSTKHSTPS
1690 1700 1710
NSSNPSGPPS PNSPHRSQLP LEGLEQPACD T