Descriptions

Rho kinases (ROCKs) are serine/threonine kinases that are involved in many aspects of cell motility, from smooth-muscle contraction to cell migration and neurite outgrowth. ROCK2 contains an N-terminal kinase domain, Rho-binding domain (RBD), and PH domain. RBD and PH domains interact with the catalytic kinase domain for autoinhibition. Rho binding to RBD relieves the autoinhibition.

Autoinhibitory domains (AIDs)

Target domain

107-392 (Catalytic kinase domain)

Relief mechanism

Partner binding

Assay

Target domain

107-392 (Catalytic kinase domain)

Relief mechanism

Partner binding

Assay

Accessory elements

231-255 (Activation loop from InterPro)

Target domain

39-417 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

12 structures for O75116

Entry ID Method Resolution Chain Position Source
4L6Q X-ray 279 A A/B 19-417 PDB
4WOT X-ray 293 A A/B/C/D 22-417 PDB
5U7Q X-ray 315 A A/B/C/D 23-417 PDB
5U7R X-ray 333 A A/B/C/D 23-417 PDB
6ED6 X-ray 286 A A/B 27-417 PDB
6P5M X-ray 265 A A/B/C/D 18-417 PDB
6P5P X-ray 330 A A/B/C/D 18-417 PDB
7JNT X-ray 221 A A/B/C/D/E/F/G/H 19-417 PDB
7JOV X-ray 259 A A/B/C/D/E/F/G/H 23-417 PDB
7P6N X-ray 300 A A/B/C/D/E/F/G/H 19-417 PDB
8GDS X-ray 271 A A/B/C/D 22-417 PDB
AF-O75116-F1 Predicted AlphaFoldDB

956 variants for O75116

Variant ID(s) Position Change Description Diseaes Association Provenance
rs2148066424
RCV001376020
527 R>* Non-immune hydrops fetalis [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1383664600
RCV001376019
1044 R>* Variant assessed as Somatic; HIGH impact. Non-immune hydrops fetalis [NCI-TCGA, ClinVar] Yes ClinVar
NCI-TCGA
dbSNP
gnomAD
rs2148286382 3 R>Q No Ensembl
rs1003618482 3 R>W No TOPMed
gnomAD
rs780887014 4 P>A No ExAC
gnomAD
rs754636827 4 P>L No ExAC
gnomAD
rs780887014 4 P>S No ExAC
gnomAD
rs1292233613 5 P>L No gnomAD
rs1292233613 5 P>Q No gnomAD
rs867931783 6 P>L No 1000Genomes
TOPMed
gnomAD
rs1558411299 7 T>R No Ensembl
rs758361484 8 G>E No ExAC
gnomAD
rs1330384935 10 M>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs750399227 10 M>V No ExAC
gnomAD
rs1279317759 11 P>L No gnomAD
rs764201136 11 P>S No ExAC
gnomAD
rs752775547 13 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs971557331 13 A>P No TOPMed
rs971557331 13 A>S No TOPMed
rs752775547 13 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1011980585 14 P>S No TOPMed
gnomAD
rs199617335 15 E>D No gnomAD
TCGA novel 15 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1325038763 15 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs759714742 16 T>I No ExAC
TOPMed
gnomAD
rs759714742 16 T>N No ExAC
TOPMed
gnomAD
rs759714742 16 T>S No ExAC
TOPMed
gnomAD
rs1156659639 17 A>T No gnomAD
rs371946291 17 A>V No ESP
ExAC
gnomAD
rs763387507 18 P>L No ExAC
TOPMed
gnomAD
TCGA novel 18 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773708028 19 G>R No ExAC
TOPMed
gnomAD
rs773708028 19 G>W No ExAC
TOPMed
gnomAD
rs547017422 20 D>E No Ensembl
rs776046926 20 D>N No ExAC
gnomAD
rs776046926 20 D>Y No ExAC
gnomAD
rs199520770 21 G>R No ExAC
TOPMed
gnomAD
rs199520770 21 G>W No ExAC
TOPMed
gnomAD
rs779937083 23 G>A No ExAC
TOPMed
gnomAD
rs779937083 23 G>D No ExAC
TOPMed
gnomAD
rs1446627904 24 A>G No TOPMed
gnomAD
rs1446627904 24 A>V No TOPMed
gnomAD
rs745722011 26 R>H No ExAC
TOPMed
gnomAD
rs745722011 26 R>L No ExAC
TOPMed
gnomAD
rs1465760381 26 R>S No gnomAD
rs778979009 27 Q>R No ExAC
TOPMed
gnomAD
rs1669199467 28 R>M No gnomAD
rs902469624 29 K>R No TOPMed
gnomAD
rs1342345132 30 L>V No gnomAD
rs1669199180 31 E>K No Ensembl
rs1276091293 32 A>P No gnomAD
rs1233582144 34 I>M No TOPMed
gnomAD
rs1408931331 34 I>T No TOPMed
gnomAD
rs1393707937 34 I>V No Ensembl
rs201281924 35 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1318331779 35 R>Q No gnomAD
rs1036134868 37 P>S No Ensembl
rs767520743 38 R>C No ExAC
TOPMed
gnomAD
rs767520743 38 R>G No ExAC
TOPMed
gnomAD
rs755174294 39 S>C No ExAC
TOPMed
gnomAD
TCGA novel 40 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766658319 40 P>S No ExAC
TOPMed
gnomAD
rs766658319 40 P>T No ExAC
TOPMed
gnomAD
rs199867337 41 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM6087351
COSM6087352
43 V>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1005718
COSM1005716
rs866098413
48 D>G Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1667242850 49 G>A No TOPMed
gnomAD
rs1558361922 51 N>S No Ensembl
rs1010385393 60 P>R No Ensembl
rs960307190 62 L>V No TOPMed
gnomAD
COSM4084332
COSM4084333
63 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1035914716 66 K>E No Ensembl
COSM1398886
COSM1398887
67 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764727812 68 I>V No ExAC
gnomAD
COSM1005713
COSM1005715
69 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM418607
COSM418606
71 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760088893 73 N>H No ExAC
TOPMed
gnomAD
rs1408278647 73 N>S No TOPMed
gnomAD
rs1001716337 74 R>T No Ensembl
rs1667241842 75 Y>H No TOPMed
gnomAD
rs1460362071 78 I>T No TOPMed
gnomAD
rs1667202246 79 V>A No gnomAD
rs368014961 80 K>E No ESP
ExAC
TOPMed
gnomAD
rs1667202022 81 K>I No TOPMed
TCGA novel 82 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 82 I>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1667201608 84 G>D No TOPMed
rs1667201693 84 G>S No TOPMed
rs1456155299 85 L>Q No gnomAD
rs575795682 92 Y>F No 1000Genomes
ExAC
gnomAD
rs1419079002 93 D>H No gnomAD
rs1423847374 94 V>A No gnomAD
rs1189154739 95 V>I No TOPMed
gnomAD
rs1667200322 101 G>V No TOPMed
COSM714684
COSM714683
107 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1667199989 107 Q>K No Ensembl
rs1254543995 107 Q>R No TOPMed
gnomAD
rs1191034888 110 R>C No TOPMed
gnomAD
rs1434029280 110 R>H No TOPMed
gnomAD
rs1434029280 110 R>P No TOPMed
gnomAD
rs1665762249 112 K>R No Ensembl
rs148591129 113 A>P No 1000Genomes
ExAC
gnomAD
rs148591129 113 A>S No 1000Genomes
ExAC
gnomAD
rs148591129 113 A>T No 1000Genomes
ExAC
gnomAD
COSM1185833
rs564194657
COSM1185832
115 Q>H lung [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1482875648 115 Q>L No gnomAD
rs774529136 116 K>T No ExAC
gnomAD
rs749545036 117 V>F No ExAC
COSM4401699
COSM4401700
121 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1297052243 129 I>M No gnomAD
rs1226451739 135 A>V No gnomAD
RCV000933226
rs201939803
136 F>C No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201939803 136 F>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1398873
rs755738345
COSM1398872
138 W>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
COSM3040212
COSM3040211
138 W>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1665759885 139 E>G No Ensembl
COSM5103320
COSM5103319
140 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748584485 142 D>G No ExAC
gnomAD
TCGA novel 146 F>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs755583790 147 A>S No ExAC
TOPMed
gnomAD
rs755583790 147 A>T No ExAC
TOPMed
gnomAD
rs376820323 148 N>S No ESP
TOPMed
gnomAD
rs750996051 149 S>N No ExAC
TOPMed
gnomAD
rs1193595808 154 Q>R No gnomAD
rs1665187363 156 F>L No Ensembl
rs1553303519 157 Y>C No Ensembl
TCGA novel 157 Y>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1665187117 157 Y>N No TOPMed
COSM4397462
COSM4397463
160 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 161 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749959332 163 R>K No ExAC
gnomAD
rs962837972 167 M>V No TOPMed
rs1016039350 168 V>I No TOPMed
gnomAD
rs1234494799 169 M>L No gnomAD
COSM1005642
COSM1005640
170 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 170 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1337182372 172 M>I No gnomAD
rs199740035 172 M>L No ExAC
TOPMed
gnomAD
rs868859632 174 G>V No Ensembl
rs1390131866 179 N>I No TOPMed
gnomAD
rs756942050 180 L>F No ExAC
TOPMed
gnomAD
rs753588993 182 S>N No ExAC
gnomAD
rs1170615120 183 N>S No TOPMed
rs1282382142 186 V>A No Ensembl
COSM1005637
COSM1005639
188 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 190 W>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1388365886 191 A>T No gnomAD
rs1295036583 192 K>E No gnomAD
COSM1631252
COSM1631253
rs763895660
192 K>R liver [Cosmic] No cosmic curated
ExAC
gnomAD
TCGA novel 193 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1665184052 198 V>I No Ensembl
rs1363941468 201 A>S No TOPMed
gnomAD
rs375900030 202 L>V No ESP
gnomAD
COSM4932371
COSM4932370
203 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1665183400 203 D>V No Ensembl
rs1665183069 205 I>V No TOPMed
rs1665182657 208 M>I No TOPMed
rs752680185 209 G>D No ExAC
TOPMed
gnomAD
TCGA novel 214 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1464860959 217 P>A No gnomAD
TCGA novel 225 H>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs372642453 225 H>Q No ESP
ExAC
TOPMed
gnomAD
rs1266723148 225 H>Y No TOPMed
gnomAD
COSM5175713
COSM5175714
226 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 233 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 238 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1385868238 240 D>G No gnomAD
rs1665180586 240 D>H No TOPMed
rs368133500 242 T>I No ESP
ExAC
TOPMed
gnomAD
rs1664851883 242 T>YVSGSFRA* No Ensembl
rs1664851776 244 M>I No TOPMed
rs1333622304 246 H>R No TOPMed
gnomAD
rs765422651 248 D>G No ExAC
gnomAD
rs762061673 250 A>T No ExAC
gnomAD
rs2148086670 251 V>A No 1000Genomes
rs776989339 251 V>I No ExAC
TOPMed
gnomAD
COSM3565405
COSM3565404
255 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 255 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3425121
COSM3425122
255 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1287684
COSM1287685
257 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664850997 257 I>M No Ensembl
TCGA novel 258 S>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM6153658
COSM6153659
258 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs187905137 262 L>M No 1000Genomes
ExAC
gnomAD
rs1664850583 266 G>R No gnomAD
rs761077451 266 G>V No ExAC
gnomAD
rs775757018 267 G>D No ExAC
TOPMed
gnomAD
rs775757018 267 G>V No ExAC
TOPMed
gnomAD
rs772589940 269 G>S No ExAC
TOPMed
gnomAD
rs1664849839 270 F>Y No gnomAD
rs1211220471 271 Y>C No gnomAD
rs1281824632 271 Y>H No gnomAD
rs1272250445 273 R>* No gnomAD
rs773789965 273 R>P No ExAC
TOPMed
gnomAD
rs773789965 273 R>Q No ExAC
TOPMed
gnomAD
COSM3797858
COSM3797859
279 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1429688570 280 V>L No TOPMed
rs910042982 289 V>M No Ensembl
rs1664745478 291 D>E No TOPMed
TCGA novel 293 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767786101 296 A>V No ExAC
gnomAD
rs1664744881 297 D>E No gnomAD
rs370278900 304 S>G No ESP
ExAC
TOPMed
gnomAD
TCGA novel 305 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs922190084 307 M>V No TOPMed
gnomAD
rs1443199981 308 D>N No gnomAD
rs771483620 310 K>N No ExAC
TOPMed
gnomAD
TCGA novel 312 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs559020986 312 S>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1572267045 314 C>Y No TOPMed
rs1664743708 315 F>C No gnomAD
rs1463494030 315 F>L No TOPMed
gnomAD
rs367600731 316 P>S No ESP
ExAC
TOPMed
gnomAD
rs1471943360 318 D>G No gnomAD
rs1403307948 318 D>Y No gnomAD
rs201316858 323 K>E No ESP
ExAC
TOPMed
gnomAD
rs754726374 323 K>I No ExAC
TOPMed
gnomAD
rs1211549993 323 K>N No gnomAD
rs754726374 323 K>R No ExAC
TOPMed
gnomAD
rs1409454002 324 H>Q No gnomAD
rs746861128 324 H>R No ExAC
TOPMed
gnomAD
rs961835571 326 K>E No gnomAD
TCGA novel 327 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1664741879 327 N>S No gnomAD
rs1208017685 328 L>F No gnomAD
rs753927042 330 C>S No ExAC
gnomAD
rs1367110997 330 C>Y No gnomAD
rs764103419 331 A>V No ExAC
TOPMed
gnomAD
COSM3565396
COSM3565395
336 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1269243338 338 V>A No TOPMed
gnomAD
rs1257372019 339 R>* No TOPMed
COSM1398848
COSM1398847
rs1664658999
339 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1171441372 341 G>A No gnomAD
rs763387619 342 R>T No ExAC
gnomAD
rs1664658405 344 G>E No TOPMed
TCGA novel 346 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1664658268 346 E>A No TOPMed
TCGA novel 347 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs977827342 347 E>D No TOPMed
rs1199987707 349 R>S No TOPMed
gnomAD
rs1395511221 350 Q>* No gnomAD
rs765702766 350 Q>P No ExAC
TOPMed
gnomAD
rs765702766 350 Q>R No ExAC
TOPMed
gnomAD
rs1426693555
COSM3565393
COSM3565394
352 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1049773415 352 P>T No Ensembl
rs1191463083 358 Q>R No TOPMed
rs765831941 362 D>G No ExAC
gnomAD
rs1187197699 364 I>V No gnomAD
rs369959149 367 T>M No ESP
ExAC
TOPMed
gnomAD
rs200150539 369 A>G No ExAC
TOPMed
gnomAD
rs200150539 369 A>V No ExAC
TOPMed
gnomAD
rs753237427 370 P>T No ExAC
rs763708164 372 V>G No ExAC
rs2148075672 372 V>I No Ensembl
rs760337689 373 P>T No ExAC
rs1664630506 376 S>N No Ensembl
rs1572263130 376 S>R No Ensembl
rs1572263126 377 S>R No Ensembl
rs775276884 379 I>V No ExAC
gnomAD
rs1664630005 381 S>N No TOPMed
rs1664629779 385 D>G No TOPMed
rs1664629451 386 D>G No Ensembl
rs759226246 386 D>N No ExAC
gnomAD
rs377480951 387 I>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1252221792 387 I>M No TOPMed
gnomAD
rs377480951 387 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs770727992 389 D>N No ExAC
gnomAD
TCGA novel 390 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776629994 392 G>E No ExAC
gnomAD
rs1333267871 392 G>R No TOPMed
gnomAD
rs776629994 392 G>V No ExAC
gnomAD
rs1234517810 393 D>V No gnomAD
rs1355710783 394 V>A No gnomAD
rs999968637 396 T>I No TOPMed
gnomAD
rs999968637 396 T>N No TOPMed
gnomAD
rs999968637 396 T>S No TOPMed
gnomAD
rs1156504196 398 P>S No TOPMed
rs1419492371 399 I>M No TOPMed
gnomAD
rs375372605 399 I>V No ESP
ExAC
TOPMed
gnomAD
rs2148075530 400 P>L No Ensembl
rs2148075538 400 P>S No Ensembl
TCGA novel 407 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1664627695 407 Q>H No gnomAD
rs1029575797 416 Y>C No Ensembl
rs758688551 416 Y>H No ExAC
gnomAD
rs779355928 417 R>T No ExAC
TOPMed
gnomAD
TCGA novel 419 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1664626555 419 N>Y No Ensembl
rs757646214 420 L>I No ExAC
TOPMed
gnomAD
rs965392252 424 D>E No TOPMed
gnomAD
rs972787975 424 D>N No Ensembl
rs189516597 425 S>F No 1000Genomes
ESP
ExAC
gnomAD
rs1664529183 426 P>S No TOPMed
gnomAD
rs1441578233 428 C>G No gnomAD
VAR_041062
RCV000454422
CA1530417
rs2230774
431 T>N No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2230774 431 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2148071780 432 D>Y No Ensembl
rs1664528247 433 S>A No TOPMed
gnomAD
rs780773039 433 S>C No ExAC
TOPMed
gnomAD
rs780773039 433 S>F No ExAC
TOPMed
gnomAD
rs371977002 434 I>M No ESP
ExAC
TOPMed
gnomAD
rs199983938 434 I>V No 1000Genomes
ExAC
gnomAD
rs954340164 435 Q>L No Ensembl
rs766009922 438 K>R No ExAC
TOPMed
gnomAD
rs1032991211 439 N>D No TOPMed
gnomAD
rs2148071710 439 N>K No Ensembl
rs762787575 439 N>T No ExAC
gnomAD
rs1170192181 441 E>D No gnomAD
rs1664462610 445 I>T No Ensembl
rs756019279 446 Q>E No ExAC
TOPMed
gnomAD
rs752579341 448 K>R No ExAC
gnomAD
rs1267902916 449 L>P No gnomAD
rs1664461766 455 H>N No Ensembl
rs758533507 455 H>R No ExAC
TOPMed
gnomAD
rs765515929 457 S>N No ExAC
TOPMed
gnomAD
rs1558300337 460 M>L No Ensembl
rs1468508347 460 M>T No TOPMed
rs1558300308 461 Q>P No Ensembl
rs761964777 462 A>V No ExAC
gnomAD
rs776997959 469 K>T No ExAC
gnomAD
rs751625329 470 C>Y No TOPMed
gnomAD
rs764371898 471 K>R No ExAC
gnomAD
TCGA novel 474 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1013023821
COSM4084282
COSM4084283
476 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1572255463 476 R>H No Ensembl
rs1358847863 478 E>G No gnomAD
rs764432475 479 K>R No ExAC
TOPMed
gnomAD
TCGA novel 480 T>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1398838
COSM1398837
481 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1325988
COSM1325987
484 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs959441048 485 E>Q No TOPMed
gnomAD
COSM4818166
COSM4818165
486 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664400681 488 I>V No TOPMed
rs1221439194 491 R>Q No TOPMed
rs1293985451 492 K>E No TOPMed
rs747913278 492 K>R No ExAC
TOPMed
gnomAD
rs1307412206 493 S>N No TOPMed
rs1167146496 494 V>A No TOPMed
gnomAD
rs1392405999 494 V>M No gnomAD
rs768660182 496 S>* No ExAC
gnomAD
rs1260038775 497 A>V No Ensembl
rs1664399022 501 L>S No gnomAD
rs963509272 504 E>Q No Ensembl
rs1467487602 508 L>R No gnomAD
rs1489303995 509 Q>R No Ensembl
rs1015004425 510 H>R No gnomAD
rs1184726494 510 H>Y No TOPMed
rs1211038248 511 K>R No gnomAD
rs1356629612 513 A>T No TOPMed
gnomAD
rs955100356 514 E>D No Ensembl
rs753011445 514 E>G No ExAC
TOPMed
gnomAD
rs767881289 515 Y>H No ExAC
TOPMed
gnomAD
rs1414992810 517 R>K No TOPMed
rs1664396287 522 E>D No Ensembl
rs766961740 523 A>E No ExAC
gnomAD
rs762340837 525 K>R No ExAC
gnomAD
TCGA novel 526 K>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772811025 527 R>Q No ExAC
gnomAD
rs1664395696 529 L>F No TOPMed
gnomAD
COSM1564855
COSM1564856
529 L>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs190769228 531 N>H No 1000Genomes
ExAC
gnomAD
TCGA novel 532 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 534 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 535 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1664390567 539 Q>R No TOPMed
gnomAD
COSM3971519
COSM3971518
540 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel
rs764811315
542 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
TOPMed
rs764811315 542 D>Y No ExAC
TOPMed
TCGA novel 546 R>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1558298272 546 R>G No Ensembl
rs1558298263 546 R>K No TOPMed
gnomAD
TCGA novel 546 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1195694008 548 Q>E No TOPMed
gnomAD
rs760511802 549 N>H No ExAC
gnomAD
rs745831464 551 Q>E No ExAC
TOPMed
gnomAD
rs773097695 552 I>V No ExAC
gnomAD
rs1209703176 553 S>C No gnomAD
rs769858786 553 S>P No ExAC
gnomAD
rs1664388396 557 V>L No Ensembl
rs1664388396 557 V>M No Ensembl
rs1280448114 561 Q>R No gnomAD
rs1341955192 565 D>G No Ensembl
rs1664379265 567 T>I No gnomAD
rs1664379265 567 T>N No gnomAD
TCGA novel 568 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1027383462 568 N>S No TOPMed
gnomAD
rs760350090 569 A>T No Ensembl
rs1466584300 572 R>* No gnomAD
rs747260728 572 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs747260728
COSM3836622
COSM3836621
572 R>Q Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1664378068 573 T>A No gnomAD
TCGA novel 575 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs766080162 575 S>F No Ensembl
rs1403246942 576 D>G No gnomAD
rs1664377683 577 T>A No TOPMed
gnomAD
rs1664377683 577 T>S No TOPMed
gnomAD
rs993262145 578 A>S No TOPMed
rs1415434255 578 A>V No TOPMed
gnomAD
COSM3565382
COSM3565381
579 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377618955 580 R>G No ExAC
TOPMed
gnomAD
rs753346725 580 R>L No ExAC
gnomAD
rs753346725 580 R>Q No ExAC
gnomAD
rs377618955 580 R>W No ExAC
TOPMed
gnomAD
COSM1481864
COSM1481863
581 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664376627 581 L>V No TOPMed
rs755655484 583 K>E No ExAC
gnomAD
rs1252482300 584 T>I No TOPMed
gnomAD
rs1252482300 584 T>S No TOPMed
gnomAD
rs1664375718 585 Q>R No Ensembl
rs752389673 586 A>T No ExAC
gnomAD
rs767132059 593 Q>E No ExAC
gnomAD
rs751343885 599 N>S No ExAC
TOPMed
gnomAD
RCV002246826
VAR_041063
rs35768389
601 D>V No ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs768721907 604 D>N No ExAC
TOPMed
gnomAD
rs1664373842 607 C>R No Ensembl
rs1323848258 608 L>M No TOPMed
gnomAD
rs1664373538 609 L>P No gnomAD
rs1323669309 610 E>G No TOPMed
gnomAD
rs1369918538 611 T>I No TOPMed
gnomAD
COSM1325990
COSM1325989
612 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664372711 613 K>R No TOPMed
rs1664372427 614 L>F No Ensembl
rs1664372316 615 K>* No Ensembl
rs1160193624 616 L>F No gnomAD
rs1160193624 616 L>I No gnomAD
rs1394467244 617 E>D No gnomAD
COSM3797854
COSM3797855
617 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664371749 618 K>R No TOPMed
rs1664371630 620 F>L No Ensembl
rs935995814 621 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1189394965 621 I>T No TOPMed
gnomAD
rs746201358 622 N>S No ExAC
TOPMed
gnomAD
rs907932374 627 L>V No Ensembl
rs778490468 629 S>C No ExAC
TOPMed
gnomAD
rs913697140 634 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM1481861
COSM1481862
637 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755636674 638 S>T No ExAC
gnomAD
rs780864829 640 I>L No ExAC
gnomAD
rs1429627024 640 I>M No gnomAD
rs754610202 640 I>R No ExAC
TOPMed
gnomAD
rs1664369347 641 I>T No Ensembl
rs1167456096 643 D>N No TOPMed
rs2148065209 645 Q>E No Ensembl
COSM1005622
COSM1005624
646 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664356681 648 I>L No TOPMed
rs1664356552 649 C>R No TOPMed
rs754592808 649 C>Y No ExAC
gnomAD
rs1169636481 650 G>D No gnomAD
rs746661835 653 E>K No ExAC
gnomAD
rs1664355593 655 L>* No Ensembl
rs1474975134 658 G>C No gnomAD
rs1474975134 658 G>S No gnomAD
rs765183859 660 I>M No ExAC
gnomAD
rs750261875 660 I>V No ExAC
TOPMed
gnomAD
rs1664354505 661 L>F No TOPMed
gnomAD
rs376938631 661 L>I No ESP
TOPMed
rs200475392 663 A>T No ESP
ExAC
TOPMed
gnomAD
rs767495736 663 A>V No ExAC
gnomAD
rs1664353723 664 K>N No TOPMed
TCGA novel 664 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1165643377 665 V>L No TOPMed
gnomAD
rs774700263 667 L>Q No ExAC
TOPMed
gnomAD
rs774700263 667 L>R No ExAC
TOPMed
gnomAD
rs766756146 669 K>R No ExAC
gnomAD
rs1664352542 673 Q>L No TOPMed
gnomAD
rs770278980 674 E>G No ExAC
gnomAD
TCGA novel 675 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs376177845 675 R>T No ESP
TOPMed
rs748608634 676 F>Y No ExAC
TOPMed
gnomAD
rs1572252589 678 D>N No Ensembl
rs2148064494 679 L>F No Ensembl
rs1664351272 679 L>V No TOPMed
COSM5755800
COSM5755801
682 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1398834
COSM1398835
684 S>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1156982814 685 N>S No TOPMed
gnomAD
rs763282423 686 M>T No ExAC
gnomAD
rs766667964 686 M>V No ExAC
TOPMed
gnomAD
rs1381539409 687 E>D No gnomAD
rs750735443 687 E>K No ExAC
gnomAD
rs1193556899 688 I>R No gnomAD
rs927365196 690 M>K No TOPMed
gnomAD
rs927365196 690 M>T No TOPMed
gnomAD
rs2148060306 691 T>I No Ensembl
COSM1398832
COSM1398833
695 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765515362 697 I>T No ExAC
TOPMed
gnomAD
rs984336860 698 Q>H No TOPMed
gnomAD
rs762297001 700 S>G No ExAC
gnomAD
rs1664256390 705 E>A No TOPMed
rs1664256274 706 A>G No Ensembl
rs939345819 708 H>R No TOPMed
gnomAD
COSM1005618
COSM1005620
rs1460278753
709 K>E Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs776984846 710 A>T No ExAC
gnomAD
rs1664255554 712 K>E No TOPMed
COSM263418
COSM263419
712 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664255311 713 A>S No Ensembl
rs1309972292 713 A>V No gnomAD
COSM4427926
rs869312716
COSM4427927
CA358642
RCV000209925
714 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ClinVar
Ensembl
NCI-TCGA
dbSNP
TCGA novel 714 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778059351 716 A>T No Ensembl
rs760140608 716 A>V No ExAC
rs1664254033 717 D>G No Ensembl
rs1262884931 719 N>S No TOPMed
gnomAD
rs771651568 720 K>N No ExAC
gnomAD
rs1460310600
RCV000997028
722 Y>C No ClinVar
TOPMed
dbSNP
gnomAD
rs1664253706 722 Y>N No Ensembl
rs1421981372 726 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1446917935 728 A>T No TOPMed
rs749156202 729 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs749156202 729 K>T No ExAC
TOPMed
gnomAD
TCGA novel 732 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1664252625 733 M>V No Ensembl
rs371591492 734 K>R No ESP
ExAC
TOPMed
gnomAD
rs757526335 736 M>V No ExAC
gnomAD
rs1374986506 737 E>K No TOPMed
gnomAD
rs1446636508 738 K>E No gnomAD
rs754097125 739 K>Q No ExAC
gnomAD
rs1167834471 740 L>F No gnomAD
rs764443687 741 L>W No ExAC
gnomAD
rs1162283464 746 L>S No gnomAD
rs1021044760 747 K>E No TOPMed
gnomAD
rs1664130869 748 Q>H No TOPMed
gnomAD
rs188469889 750 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs201820613 751 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1457229425 753 L>V No gnomAD
TCGA novel 758 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372509570 758 E>K No ESP
ExAC
gnomAD
rs1458257852 759 K>N No gnomAD
rs1381420833 760 R>K No TOPMed
gnomAD
rs2148054960 761 C>Y No 1000Genomes
rs765898223 763 L>V No ExAC
TOPMed
gnomAD
COSM4084264
COSM4084263
766 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664129413 768 L>V No TOPMed
rs762679348 769 K>I No ExAC
TOPMed
gnomAD
rs762679348 769 K>R No ExAC
TOPMed
gnomAD
rs773066505 770 Q>E No ExAC
TOPMed
gnomAD
rs769698930 770 Q>L No ExAC
TOPMed
gnomAD
rs769698930 770 Q>R No ExAC
TOPMed
gnomAD
rs1664128684 773 Q>R No Ensembl
rs748007730 774 K>E No ExAC
gnomAD
rs368271329 777 E>D No ESP
ExAC
TOPMed
gnomAD
COSM4929746
COSM4929745
777 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs927981383 778 L>F No Ensembl
COSM5168942
COSM5168941
778 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664127917 780 K>E No TOPMed
rs1664127803 780 K>R No TOPMed
gnomAD
rs374045267 782 K>E No ESP
ExAC
TOPMed
gnomAD
rs374045267 782 K>Q No ESP
ExAC
TOPMed
gnomAD
rs757357913 783 D>E No ExAC
TOPMed
gnomAD
rs1403190291 784 V>M No gnomAD
rs1163908364 787 E>D No TOPMed
gnomAD
rs528187081 787 E>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1664127103 787 E>K No TOPMed
rs778025113 788 D>G No ExAC
gnomAD
rs777936902 789 V>I No ExAC
gnomAD
rs1350122458 790 R>G No TOPMed
gnomAD
rs948111787 793 T>A No Ensembl
rs368029536 793 T>I No ESP
ExAC
gnomAD
rs368029536 793 T>R No ESP
ExAC
gnomAD
COSM1305566
COSM1305565
796 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664109213 796 I>T No Ensembl
COSM475785
COSM475786
797 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664109101 797 E>Q No TOPMed
COSM475784
COSM475783
797 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1664108860 798 Q>E No TOPMed
rs1312051404 798 Q>H No gnomAD
rs781549565 801 Q>R No ExAC
TOPMed
gnomAD
rs370068257 803 R>C No ExAC
TOPMed
gnomAD
rs942166194 803 R>H No gnomAD
rs2148054183 805 L>F No Ensembl
rs1488092249 808 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1338172145 815 Q>E No gnomAD
rs757896375 817 V>F No ExAC
gnomAD
rs757896375 817 V>I No ExAC
gnomAD
rs2148054121 820 L>I No Ensembl
rs1664106792 820 L>R No Ensembl
TCGA novel 820 L>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1167646183 821 K>N No TOPMed
gnomAD
rs753624880 821 K>Q No ExAC
gnomAD
rs760442417 822 M>K No ExAC
gnomAD
TCGA novel 822 M>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs760442417 822 M>T No ExAC
gnomAD
rs763949139 822 M>V No ExAC
gnomAD
rs1476943025 825 K>R No gnomAD
COSM3425118
COSM3425119
830 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771940265 830 E>D No ExAC
TOPMed
gnomAD
TCGA novel 831 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1236300627 831 N>Y No gnomAD
rs762979588 832 N>D No ExAC
TOPMed
gnomAD
rs1325128410 833 H>Y No gnomAD
rs2148054042 835 M>I No Ensembl
rs1664104589 835 M>L No TOPMed
rs1664104589 835 M>V No TOPMed
rs373352683 837 M>L No ESP
TOPMed
gnomAD
rs373352683 837 M>V No ESP
TOPMed
gnomAD
rs1217670473 839 M>I No gnomAD
rs769946012 842 E>Q No ExAC
gnomAD
rs1382640563 842 E>V No TOPMed
gnomAD
rs748373019 845 N>S No ExAC
TOPMed
gnomAD
TCGA novel 846 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1664103255 846 A>T No gnomAD
rs1301069849 846 A>V No gnomAD
rs1664103010 847 E>D No TOPMed
rs781327430 849 R>Q No ExAC
TOPMed
gnomAD
COSM255843
COSM255844
rs1348532929
852 R>C central_nervous_system [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1348532929 852 R>G No TOPMed
gnomAD
rs761931112 852 R>H No ExAC
TOPMed
gnomAD
TCGA novel 852 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1348532929 852 R>S No TOPMed
gnomAD
rs1663873309 854 D>N No Ensembl
COSM99112
rs1663873189
COSM1196945
854 D>V lung stomach [Cosmic] No cosmic curated
TOPMed
rs1663872805 859 M>I No Ensembl
rs1380297455 859 M>V No gnomAD
rs768794358 862 L>R No ExAC
gnomAD
rs1437334168 864 D>Y No gnomAD
rs1404966994 866 L>V No TOPMed
COSM263416
COSM263417
rs1196050559
867 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1263474499 869 E>Q No gnomAD
rs201566611 870 Q>L No TOPMed
rs201566611 870 Q>R No TOPMed
rs1663871459 871 Y>C No TOPMed
gnomAD
rs1329386221 877 K>E No gnomAD
rs1228513348 878 T>I No Ensembl
rs1663845860 880 V>I No TOPMed
rs200468857 881 R>K No ExAC
TOPMed
gnomAD
rs200468857 881 R>T No ExAC
TOPMed
gnomAD
rs964529068 881 R>W No Ensembl
rs1010947270 883 L>F No Ensembl
rs771593782 884 K>T No ExAC
gnomAD
rs1222515906 885 E>A No TOPMed
gnomAD
TCGA novel 886 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1384438344 887 C>F No gnomAD
rs375269209 887 C>R No ESP
ExAC
TOPMed
gnomAD
COSM1005601
COSM1005603
890 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663843946 891 T>I No TOPMed
rs777160284 893 L>V No ExAC
gnomAD
rs1030991062 894 G>A No TOPMed
gnomAD
rs1030991062 894 G>D No TOPMed
gnomAD
rs1030991062 894 G>V No TOPMed
gnomAD
rs1375404614 895 K>E No gnomAD
COSM1398823
COSM1398824
896 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1262208183 897 L>S No gnomAD
rs1191167022 898 Q>P No gnomAD
rs868786728 899 Q>R No gnomAD
rs1302549614 900 K>N No TOPMed
gnomAD
rs1202724853 901 K>E No TOPMed
gnomAD
rs780879734 905 Q>E No ExAC
rs1572234752
COSM459671
COSM459670
907 E>K cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1007946658 908 R>L No TOPMed
gnomAD
rs1007946658 908 R>Q No TOPMed
gnomAD
rs1663835527 917 I>N No TOPMed
rs1663835387 918 T>A No TOPMed
rs1047372976 922 A>G No Ensembl
rs780783659 923 D>G No ExAC
gnomAD
rs747734227 923 D>H No ExAC
TOPMed
gnomAD
rs933002470 927 L>M No TOPMed
gnomAD
rs746750103 928 A>V No ExAC
gnomAD
rs1663834219 929 R>C No TOPMed
rs1216521636 929 R>H No TOPMed
gnomAD
rs779832331 931 I>V No ExAC
TOPMed
gnomAD
rs1363188043 932 A>D No Ensembl
rs1663833777 932 A>S No Ensembl
rs1363188043 932 A>V No Ensembl
TCGA novel 933 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1283929166 934 E>Q No gnomAD
rs1243257279 940 E>K No gnomAD
TCGA novel 941 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1385540412 945 M>L No TOPMed
gnomAD
rs1385540412 945 M>V No TOPMed
gnomAD
rs778962436 947 E>D No ExAC
gnomAD
rs923187286
COSM297076
COSM297075
949 E>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs1398894342 950 I>L No TOPMed
gnomAD
COSM5984440
COSM5984441
950 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663832164 950 I>N No TOPMed
rs1398894342 950 I>V No TOPMed
gnomAD
rs1419770335 951 K>E No Ensembl
rs1326472465 953 M>L No gnomAD
rs1380168482 953 M>T No TOPMed
gnomAD
rs753685005 955 A>D No gnomAD
rs1396954585 957 H>N No TOPMed
gnomAD
rs1396954585 957 H>Y No TOPMed
gnomAD
rs1572234348 959 Q>R No Ensembl
rs1663830807 960 E>D No gnomAD
RCV000709859
rs1558285391
960 E>Q No ClinVar
Ensembl
dbSNP
rs752852649 962 T>K No ExAC
TOPMed
gnomAD
rs752852649 962 T>M No ExAC
TOPMed
gnomAD
rs752852649 962 T>R No ExAC
TOPMed
gnomAD
rs1277347871 966 A>G No TOPMed
gnomAD
rs1663829692 967 T>A No Ensembl
rs202027620 967 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1387079391 968 I>V No gnomAD
rs914402873 969 A>D No TOPMed
rs1184101548 969 A>T No gnomAD
TCGA novel 970 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768232919 972 E>G No ExAC
gnomAD
rs1195128763 973 E>D No TOPMed
gnomAD
rs1423756088 974 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1470546786 976 R>S No gnomAD
COSM1005594
COSM1005596
978 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201098449
COSM3565358
COSM3565359
979 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs201098449 979 T>S No ExAC
gnomAD
rs1663734677 980 S>N No Ensembl
rs1663734677 980 S>T No Ensembl
rs1663734387 982 V>F No Ensembl
rs1273601241 984 N>S No TOPMed
rs771745893 984 N>Y No ExAC
gnomAD
TCGA novel 987 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1663733167 989 K>R No Ensembl
COSM263415
COSM263414
991 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 993 N>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1292908739 993 N>S No gnomAD
rs371229171 994 N>D No ESP
ExAC
gnomAD
TCGA novel 994 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs371229171 994 N>Y No ESP
ExAC
gnomAD
rs1663731937 995 K>Q No TOPMed
rs1352070438 997 K>N No gnomAD
rs1663731670 1000 Q>E No TOPMed
gnomAD
COSM1005593
COSM1005591
1000 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1002 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1325175849 1003 L>R No gnomAD
COSM3836612
COSM3836613
1004 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1294174587 1005 R>G No TOPMed
gnomAD
TCGA novel 1010 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs770703754 1010 E>K No ExAC
TOPMed
gnomAD
TCGA novel 1010 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372763637 1013 A>T No ESP
ExAC
TOPMed
gnomAD
rs369183934 1013 A>V No ESP
ExAC
TOPMed
gnomAD
rs1572230823 1014 A>V No Ensembl
rs1431335544 1015 A>S No TOPMed
gnomAD
rs1431335544 1015 A>T No TOPMed
gnomAD
rs201466826 1016 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1429357124 1016 I>V No Ensembl
rs747125111 1017 K>E No ExAC
gnomAD
rs780090672 1018 A>T No ExAC
TOPMed
gnomAD
rs1430323167 1022 K>R No gnomAD
rs2148039459 1023 Q>R No Ensembl
rs1242005227 1032 T>A No gnomAD
rs1289562093 1034 A>V No gnomAD
TCGA novel 1036 N>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1039 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs371560170 1041 I>T No ESP
gnomAD
TCGA novel 1046 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1663691391 1047 P>R No TOPMed
rs367991548 1048 V>I No ESP
ExAC
TOPMed
gnomAD
rs367991548 1048 V>L No ESP
ExAC
TOPMed
gnomAD
rs1389906156 1049 K>T No gnomAD
rs1663690913 1050 R>C No Ensembl
rs761639386 1050 R>H No ExAC
TOPMed
gnomAD
rs766176402 1051 G>D No ExAC
gnomAD
rs1166043025 1056 V>M No gnomAD
rs1663689932 1057 R>W No TOPMed
gnomAD
TCGA novel 1059 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1416784787
COSM277096
COSM277095
1062 E>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1663689054 1063 N>T No TOPMed
rs542366653 1067 H>R No TOPMed
gnomAD
TCGA novel
rs1663688316
1072 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1439267406
COSM3723415
COSM3723416
1074 R>C upper_aerodigestive_tract [Cosmic] No cosmic curated
TOPMed
rs1663687806 1074 R>H No TOPMed
COSM3836610
COSM3836611
1076 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772167443 1077 L>M No ExAC
gnomAD
rs34945852
VAR_057110
1083 K>M No UniProt
Ensembl
dbSNP
rs2148038023 1084 Y>C No 1000Genomes
rs376988314
COSM4850793
COSM4850792
1085 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
TCGA novel 1087 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1005590
COSM1005588
1088 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1398817
COSM1398818
1090 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371742171 1091 M>V No ESP
ExAC
gnomAD
COSM1005587
COSM1005585
1093 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1326185996 1099 S>C No TOPMed
gnomAD
COSM1005584
rs1316869717
COSM1005582
1100 Q>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs751063624 1101 I>V No ExAC
gnomAD
rs867914323
COSM1005579
COSM1005581
1102 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs766071383 1102 R>L No ExAC
gnomAD
rs766071383 1102 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1048040636 1108 T>A No TOPMed
gnomAD
TCGA novel 1114 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765108740 1120 R>Q No ExAC
TOPMed
gnomAD
rs867731618 1120 R>W No Ensembl
rs531693023 1122 Q>L No ExAC
TOPMed
gnomAD
rs759608106 1124 Q>R No ExAC
gnomAD
rs759845445 1127 H>P No ExAC
TOPMed
gnomAD
rs759845445 1127 H>R No ExAC
TOPMed
gnomAD
rs1203184488 1127 H>Y No gnomAD
TCGA novel
rs1663675117
1131 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs930986389 1132 S>N No Ensembl
rs535318717 1133 S>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1204491860 1133 S>Y No gnomAD
rs1260360741 1134 S>I No TOPMed
rs781695369 1135 I>T No ExAC
gnomAD
rs1230284027 1135 I>V No gnomAD
rs1279619968 1137 S>G No gnomAD
rs755463270 1137 S>N No ExAC
TOPMed
gnomAD
rs369090525 1142 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs912389077 1145 D>G No gnomAD
rs912389077 1145 D>V No gnomAD
rs200853375 1147 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3565356
COSM3565357
1149 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663576460 1150 E>G No gnomAD
rs867412495 1151 S>L No Ensembl
COSM1005576
COSM1005578
1152 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs898495782 1153 L>* No Ensembl
rs1663575415 1157 L>F No TOPMed
rs1663575064 1161 V>I No TOPMed
rs1163971067 1162 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 1162 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs866932722 1170 W>L No Ensembl
rs769131010 1171 V>G No ExAC
TOPMed
gnomAD
rs1231438319 1171 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1335366531 1172 K>R No Ensembl
rs762981787 1174 Y>C No ExAC
gnomAD
COSM263413
COSM263412
1183 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1490933675 1183 L>I No TOPMed
gnomAD
COSM441004
COSM441003
1187 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761936331 1190 D>H No ExAC
gnomAD
COSM1005575
COSM1005573
1192 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
VAR_041064 1194 S>P a metastatic melanoma sample; somatic mutation [UniProt] No UniProt
rs1051085519 1195 N>S No TOPMed
gnomAD
TCGA novel 1197 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1225126910 1197 Y>C No gnomAD
rs1281437156 1197 Y>H No gnomAD
rs1329498175 1199 V>I No gnomAD
rs55839233 1202 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1663540553 1203 D>H No gnomAD
rs753975729 1205 L>V No ExAC
gnomAD
rs1663525144 1206 F>C No Ensembl
TCGA novel 1207 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764405852 1209 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs995767688 1209 R>Q No TOPMed
gnomAD
rs369537192 1210 P>S No ESP
ExAC
gnomAD
rs778488016 1217 Y>* No Ensembl
rs1663523299 1221 A>G No Ensembl
rs1663523158 1223 E>G No Ensembl
COSM1305561
COSM1305562
1226 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel
rs1181374829
1228 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1289495577 1232 Y>N No gnomAD
rs2148030971 1233 A>G No Ensembl
rs1247131322 1234 N>K No gnomAD
rs1322385537 1239 K>R No gnomAD
rs267598835 1240 K>Q No Ensembl
rs866465002 1240 K>R No Ensembl
rs1558277937
RCV000754891
1242 Q>* No ClinVar
Ensembl
dbSNP
COSM1005561
COSM1005559
1243 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1306593128 1245 P>L No gnomAD
rs1222242642 1246 V>A No gnomAD
rs766991543 1249 V>A No TOPMed
gnomAD
rs760978628 1250 G>R No ExAC
gnomAD
rs2148030906 1255 Y>C No 1000Genomes
rs753030793 1256 I>V No ExAC
TOPMed
gnomAD
rs552881592 1257 C>G No 1000Genomes
ExAC
gnomAD
rs1209477310 1258 H>L No TOPMed
gnomAD
rs760031303 1258 H>Y No ExAC
gnomAD
rs1647896792 1259 K>E No TOPMed
COSM1398809
COSM1398808
1259 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1368498336 1262 E>Q No gnomAD
rs1663471424 1263 F>S No Ensembl
rs1416879926 1265 P>S No TOPMed
gnomAD
COSM1005558
rs772794414
COSM1005556
1267 L>F Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1558277806 1271 P>L No Ensembl
COSM3565346
COSM3565345
1271 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747795771 1272 T>A No ExAC
gnomAD
rs747795771 1272 T>P No ExAC
gnomAD
rs1211516018 1273 N>D No gnomAD
rs376050005 1278 M>V No ESP
ExAC
TOPMed
gnomAD
rs989861341 1280 P>A No Ensembl
TCGA novel 1282 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1572222394 1284 M>I No Ensembl
rs1213934825 1285 F>S No gnomAD
rs1572222366 1293 C>S No Ensembl
rs527957824 1294 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs527957824 1294 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1344004974
COSM5042713
COSM5042714
1294 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs201228597 1295 R>C No TOPMed
TCGA novel 1295 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2148030695 1295 R>H No Ensembl
rs201228597 1295 R>S No TOPMed
COSM1005553
COSM1005551
1300 C>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1363186030 1305 M>I No TOPMed
TCGA novel 1305 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779803586 1307 K>R No ExAC
TOPMed
gnomAD
COSM3039741
COSM3039742
1308 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663465678 1308 K>T No gnomAD
COSM4722383
COSM4722382
1309 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663464909 1312 I>T No Ensembl
rs1572222260 1314 P>R No TOPMed
COSM459673
rs1663464740
COSM459672
1314 P>S cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1303070421 1315 C>R No TOPMed
gnomAD
TCGA novel 1317 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773775703 1318 Y>C No ExAC
TOPMed
gnomAD
rs773775703 1318 Y>F No ExAC
TOPMed
gnomAD
rs1366678124 1319 Y>C No gnomAD
rs764703058 1321 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs761352733 1323 T>A No ExAC
gnomAD
rs775328443 1323 T>M No ExAC
TOPMed
gnomAD
COSM3039734
COSM3039733
1325 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1016022786 1326 N>Y No Ensembl
rs1466357038 1327 L>M No gnomAD
COSM4084251
COSM4084250
1327 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663457643 1331 A>T No Ensembl
rs1663457510 1333 S>C No TOPMed
gnomAD
rs960536932 1334 T>A No TOPMed
COSM6153678
COSM6153677
1337 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663457221 1337 Q>R No gnomAD
rs1248648087 1339 K>N No gnomAD
rs201801097 1339 K>Q No ESP
ExAC
TOPMed
gnomAD
rs771825593 1341 V>I No ExAC
TOPMed
gnomAD
rs1460194351 1342 S>I No TOPMed
gnomAD
rs1460194351 1342 S>N No TOPMed
gnomAD
COSM4133005
COSM4133004
rs745801053
1343 R>Q thyroid [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM3425114
COSM3425113
1343 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1047418299 1345 V>E No Ensembl
rs374395637 1345 V>M No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1347 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1663455495 1348 I>T No Ensembl
rs748271839 1349 P>A No ExAC
TOPMed
gnomAD
COSM4084249
COSM4084248
1349 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748271839 1349 P>S No ExAC
TOPMed
gnomAD
COSM1398807
COSM1398806
1351 K>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1663454822 1352 P>S No TOPMed
rs1572221848 1353 P>A No Ensembl
rs968013894 1353 P>L No TOPMed
rs1572221848 1353 P>S No Ensembl
COSM1398804
COSM1398805
1353 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751806275 1354 A>P No ExAC
TOPMed
gnomAD
rs751806275 1354 A>S No ExAC
TOPMed
gnomAD
rs766761794 1354 A>V No ExAC
gnomAD
COSM3565341
COSM3565342
1357 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3723417
COSM3723418
rs1558277230
1360 R>* upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs758748287 1360 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM3960992
COSM3960991
1361 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1266713911 1362 S>P No TOPMed
gnomAD
rs750898507 1363 P>L No ExAC
gnomAD
rs1166645564 1363 P>S No gnomAD
rs1390697544
COSM441000
COSM441001
1364 R>T Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs770509824 1366 S>* No Ensembl
rs1322913055 1367 M>T No gnomAD
rs200825805 1367 M>V No ExAC
TOPMed
gnomAD
rs761262690 1369 I>M No ExAC
TOPMed
gnomAD
rs1663451993 1369 I>V No TOPMed
rs2148030075 1370 Q>R No Ensembl
rs1663451532 1372 N>D No Ensembl
rs1426209431 1372 N>K No TOPMed
TCGA novel 1372 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs760366234 1374 S>C No ExAC
gnomAD
rs1663451050 1374 S>P No TOPMed
rs1663450720 1375 I>F No Ensembl
rs1663450720 1375 I>V No Ensembl
rs1483703733 1377 R>Q No gnomAD
rs1207941601 1377 R>W No TOPMed
gnomAD
COSM2157014
COSM2157015
1379 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1224122
rs374630605
COSM1224121
1380 R>Q large_intestine [Cosmic] No cosmic curated
ESP
ExAC
gnomAD
rs745564499 1381 Q>* No ExAC
TOPMed
gnomAD
rs1663449638 1381 Q>R No Ensembl
rs1285619301 1383 A>T No gnomAD
rs771017362 1384 P>S No ExAC
gnomAD
rs1319487607 1385 N>D No gnomAD
rs1663448844 1385 N>S No Ensembl
rs1306014561 1387 P>L No TOPMed
gnomAD

No associated diseases with O75116

10 regional properties for O75116

Type Name Position InterPro Accession
domain Protein kinase domain 92 - 354 IPR000719
domain AGC-kinase, C-terminal 357 - 425 IPR000961
domain Pleckstrin homology domain 1150 - 1351 IPR001849
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 1260 - 1315 IPR002219
active_site Serine/threonine-protein kinase, active site 210 - 222 IPR008271
domain HR1 rho-binding domain 497 - 573 IPR011072
domain ROCK, Rho binding domain 978 - 1047 IPR015008
binding_site Protein kinase, ATP binding site 98 - 121 IPR017441
domain Rho-associated protein kinase 2, catalytic domain 39 - 417 IPR029878
domain Rho-associated protein kinase 2, HR1 domain 505 - 571 IPR037311

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Cell membrane ; Peripheral membrane protein
  • Nucleus
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasmic, and associated with actin microfilaments and the plasma membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic ribonucleoprotein granule A ribonucleoprotein granule located in the cytoplasm.
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.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

12 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
endopeptidase activator activity Binds to and increases the activity of an endopeptidase.
metal ion binding Binding to a metal ion.
protease binding Binding to a protease or a peptidase.
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions
Rho-dependent protein serine/threonine kinase activity Rho GTPase-dependent catalysis of the reaction
RNA binding Binding to an RNA molecule or a portion thereof.
small GTPase binding Binding to a small monomeric GTPase.
structural molecule activity The action of a molecule that contributes to the structural integrity of a complex.
tau protein binding Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.
tau-protein kinase activity Catalysis of the reaction

56 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.
aortic valve morphogenesis The process in which the structure of the aortic valve is generated and organized.
blood vessel diameter maintenance Any process that modulates the diameter of blood vessels.
canonical NF-kappaB signal transduction The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
cellular response to acetylcholine Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetylcholine stimulus.
cellular response to testosterone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a testosterone stimulus.
centrosome duplication The replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
cortical 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 actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
embryonic morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants.
epithelial to mesenchymal transition A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
mitotic cytokinesis A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
modulation by host of viral process A process in which a host organism modulates the frequency, rate or extent of any of a process being mediated by a virus with which it is infected.
mRNA destabilization Any process that decreases the stability of an mRNA molecule, making it more vulnerable to degradative processes. Messenger RNA is the intermediate molecule between DNA and protein. It includes UTR and coding sequences. It does not contain introns.
negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of bicellular tight junction assembly Any process that stops, prevents or reduces the frequency, rate or extent of tight junction assembly.
negative regulation of biomineral tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of myosin-light-chain-phosphatase activity Any process that stops, prevents, or reduces the frequency, rate or extent of myosin-light-chain-phosphatase activity.
negative regulation of nitric oxide biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
negative regulation of protein localization to lysosome Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to lysosome.
positive regulation of amyloid precursor protein catabolic process Any process that activates or increases the frequency, rate or extent of amyloid precursor protein catabolic process.
positive regulation of amyloid-beta formation Any process that activates or increases the frequency, rate or extent of amyloid-beta formation.
positive regulation of cardiac muscle hypertrophy Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of centrosome duplication Any process that increases the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
positive regulation of connective tissue growth factor production Any process that activates or increases the frequency, rate, or extent of connective tissue growth factor production.
positive regulation of connective tissue replacement Any process that activates or increases the frequency, rate or extent of connective tissue replacement.
positive regulation of endothelial cell migration Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of fibroblast growth factor production Any process that increases the rate, frequency or extent of the appearance of a fibroblast growth factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein localization to early endosome Any process that activates or increases the frequency, rate or extent of protein localization to early endosome.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of stress fiber assembly Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of angiotensin-activated signaling pathway Any process that modulates the frequency, rate or extent of the angiotensin-activated signaling pathway.
regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell junction assembly Any process that modulates the frequency, rate or extent of cell junction assembly.
regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility.
regulation of cellular response to hypoxia Any process that modulates the frequency, rate or extent of cellular response to hypoxia.
regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of establishment of cell polarity Any process that modulates the frequency, rate or extent of establishment of cell polarity.
regulation of establishment of endothelial barrier Any process that modulates the frequency, rate or extent of establishment of endothelial barrier.
regulation of focal adhesion assembly Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions.
regulation of keratinocyte differentiation Any process that modulates the frequency, rate or extent of keratinocyte differentiation.
regulation of nervous system process Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system.
regulation of stress fiber assembly Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
response to angiotensin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen.
response to ischemia Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
response to transforming growth factor beta Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
Rho protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.
smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length.

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
Q13464 ROCK1 Rho-associated protein kinase 1 Homo sapiens (Human) SS
Q9Y5S2 CDC42BPB Serine/threonine-protein kinase MRCK beta Homo sapiens (Human) SS
Q5VT25 CDC42BPA Serine/threonine-protein kinase MRCK alpha Homo sapiens (Human) EV
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
P70336 Rock2 Rho-associated protein kinase 2 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
Q63644 Rock1 Rho-associated protein kinase 1 Rattus norvegicus (Rat) SS
Q7TT49 Cdc42bpb Serine/threonine-protein kinase MRCK beta Rattus norvegicus (Rat) SS
Q62868 Rock2 Rho-associated protein kinase 2 Rattus norvegicus (Rat) EV
10 20 30 40 50 60
MSRPPPTGKM PGAPETAPGD GAGASRQRKL EALIRDPRSP INVESLLDGL NSLVLDLDFP
70 80 90 100 110 120
ALRKNKNIDN FLNRYEKIVK KIRGLQMKAE DYDVVKVIGR GAFGEVQLVR HKASQKVYAM
130 140 150 160 170 180
KLLSKFEMIK RSDSAFFWEE RDIMAFANSP WVVQLFYAFQ DDRYLYMVME YMPGGDLVNL
190 200 210 220 230 240
MSNYDVPEKW AKFYTAEVVL ALDAIHSMGL IHRDVKPDNM LLDKHGHLKL ADFGTCMKMD
250 260 270 280 290 300
ETGMVHCDTA VGTPDYISPE VLKSQGGDGF YGRECDWWSV GVFLYEMLVG DTPFYADSLV
310 320 330 340 350 360
GTYSKIMDHK NSLCFPEDAE ISKHAKNLIC AFLTDREVRL GRNGVEEIRQ HPFFKNDQWH
370 380 390 400 410 420
WDNIRETAAP VVPELSSDID SSNFDDIEDD KGDVETFPIP KAFVGNQLPF IGFTYYRENL
430 440 450 460 470 480
LLSDSPSCRE TDSIQSRKNE ESQEIQKKLY TLEEHLSNEM QAKEELEQKC KSVNTRLEKT
490 500 510 520 530 540
AKELEEEITL RKSVESALRQ LEREKALLQH KNAEYQRKAD HEADKKRNLE NDVNSLKDQL
550 560 570 580 590 600
EDLKKRNQNS QISTEKVNQL QRQLDETNAL LRTESDTAAR LRKTQAESSK QIQQLESNNR
610 620 630 640 650 660
DLQDKNCLLE TAKLKLEKEF INLQSALESE RRDRTHGSEI INDLQGRICG LEEDLKNGKI
670 680 690 700 710 720
LLAKVELEKR QLQERFTDLE KEKSNMEIDM TYQLKVIQQS LEQEEAEHKA TKARLADKNK
730 740 750 760 770 780
IYESIEEAKS EAMKEMEKKL LEERTLKQKV ENLLLEAEKR CSLLDCDLKQ SQQKINELLK
790 800 810 820 830 840
QKDVLNEDVR NLTLKIEQET QKRCLTQNDL KMQTQQVNTL KMSEKQLKQE NNHLMEMKMN
850 860 870 880 890 900
LEKQNAELRK ERQDADGQMK ELQDQLEAEQ YFSTLYKTQV RELKEECEEK TKLGKELQQK
910 920 930 940 950 960
KQELQDERDS LAAQLEITLT KADSEQLARS IAEEQYSDLE KEKIMKELEI KEMMARHKQE
970 980 990 1000 1010 1020
LTEKDATIAS LEETNRTLTS DVANLANEKE ELNNKLKDVQ EQLSRLKDEE ISAAAIKAQF
1030 1040 1050 1060 1070 1080
EKQLLTERTL KTQAVNKLAE IMNRKEPVKR GNDTDVRRKE KENRKLHMEL KSEREKLTQQ
1090 1100 1110 1120 1130 1140
MIKYQKELNE MQAQIAEESQ IRIELQMTLD SKDSDIEQLR SQLQALHIGL DSSSIGSGPG
1150 1160 1170 1180 1190 1200
DAEADDGFPE SRLEGWLSLP VRNNTKKFGW VKKYVIVSSK KILFYDSEQD KEQSNPYMVL
1210 1220 1230 1240 1250 1260
DIDKLFHVRP VTQTDVYRAD AKEIPRIFQI LYANEGESKK EQEFPVEPVG EKSNYICHKG
1270 1280 1290 1300 1310 1320
HEFIPTLYHF PTNCEACMKP LWHMFKPPPA LECRRCHIKC HKDHMDKKEE IIAPCKVYYD
1330 1340 1350 1360 1370 1380
ISTAKNLLLL ANSTEEQQKW VSRLVKKIPK KPPAPDPFAR SSPRTSMKIQ QNQSIRRPSR
QLAPNKPS