Descriptions

Kinesin-3 KIF13B autoinhibition involves the coiled-coil 1 (CC1) segment, which interacts with both the neck coil (NC) and the motor domain (MD). This interaction not only inhibits the NC-mediated dimerization, but also prevents the ADP release from the MD, effectively inhibiting the motor activity.

Autoinhibitory domains (AIDs)

Target domain

1-388 (Motor domain and neck coil)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9H1H9

Entry ID Method Resolution Chain Position Source
AF-Q9H1H9-F1 Predicted AlphaFoldDB

1681 variants for Q9H1H9

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1201157053 2 S>* No gnomAD
rs897813029 3 D>G No TOPMed
rs1381065376 4 T>N No TOPMed
rs1781676157 5 K>R No Ensembl
rs1437827351 6 V>I No TOPMed
rs2150659318 11 R>Q No 1000Genomes
rs367718683 12 V>I No ESP
ExAC
TOPMed
gnomAD
rs367718683 12 V>L No ESP
ExAC
TOPMed
gnomAD
rs763638959 14 P>A No ExAC
TOPMed
gnomAD
COSM1442411
COSM1442410
COSM4948347
14 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1338941852 15 M>K No gnomAD
rs774830525 15 M>L No ExAC
TOPMed
gnomAD
rs774830525 15 M>V No ExAC
TOPMed
gnomAD
rs1781673988 16 N>H No Ensembl
rs917131859 17 R>G No TOPMed
gnomAD
rs1781673623 17 R>Q No gnomAD
rs1329668277 18 R>Q No gnomAD
rs774552274 19 E>A No ExAC
gnomAD
rs1412092640 19 E>K No gnomAD
TCGA novel 22 L>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 24 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1781638354 24 T>P No TOPMed
gnomAD
rs945806990 25 K>Q No TOPMed
gnomAD
rs749637872 25 K>R No ExAC
TOPMed
gnomAD
rs749637872 25 K>T No ExAC
TOPMed
gnomAD
rs1781636832 26 C>G No TOPMed
rs1781636513 27 V>A No Ensembl
rs1393844940 29 E>V No TOPMed
rs769913734 30 M>I No ExAC
TOPMed
gnomAD
rs745933017 32 G>A No ExAC
gnomAD
rs1781634843 33 N>H No TOPMed
gnomAD
rs1781634520 33 N>I No Ensembl
rs1008730202 34 Q>E No Ensembl
rs757154920 34 Q>R No ExAC
gnomAD
rs912944180 38 H>Y No TOPMed
gnomAD
rs1781631229 39 P>L No Ensembl
COSM4812108
COSM420970
COSM1133768
39 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777591110 39 P>S No ExAC
TOPMed
gnomAD
rs1198330965 40 P>L No gnomAD
rs1266700093 40 P>S No gnomAD
rs148788770 41 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1488489966 41 P>S No gnomAD
rs953588422 42 S>F No TOPMed
rs367921778
COSM1487496
COSM450954
42 S>P breast [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764935841 45 K>R No ExAC
gnomAD
rs759323519 46 Q>R No ExAC
TOPMed
gnomAD
rs538767258 48 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs766030430 49 R>G No ExAC
gnomAD
TCGA novel 51 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748079081 52 P>L No ExAC
TOPMed
gnomAD
rs1472518432 52 P>S No TOPMed
gnomAD
COSM4857674
COSM483721
COSM4857675
53 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1305886029 54 V>L No gnomAD
rs376963344 56 A>T No ESP
ExAC
TOPMed
gnomAD
rs1459674149 59 Y>C No gnomAD
rs2150436022 60 C>F No Ensembl
rs1366748628 63 S>F No gnomAD
rs767798014 64 M>V No ExAC
gnomAD
rs201865906 66 E>A No ESP
ExAC
TOPMed
gnomAD
rs190798348 66 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761732143 66 E>K No ExAC
gnomAD
rs1770200244 67 S>T No Ensembl
rs750427547 68 N>K No ExAC
TOPMed
gnomAD
rs566106960 69 T>A No 1000Genomes
ExAC
gnomAD
rs199883389 69 T>S No ESP
ExAC
TOPMed
gnomAD
rs1770199277 70 T>* No Ensembl
rs868163134 70 T>A No TOPMed
gnomAD
rs1012630170 71 K>I No gnomAD
rs1282096308 72 Y>* No TOPMed
rs745688584 72 Y>H No ExAC
gnomAD
rs1286368039 73 A>S No TOPMed
gnomAD
rs1227765830 74 G>S No TOPMed
gnomAD
COSM261656
COSM3829736
COSM3829737
76 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1377472628 77 V>M No gnomAD
rs371912600 80 K>R No Ensembl
rs1262355882 81 C>Y No Ensembl
rs1768111691 84 E>K No Ensembl
rs1193421351 85 G>E No TOPMed
gnomAD
rs763146358 87 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs769774239 90 A>S No ExAC
gnomAD
rs769774239 90 A>T No ExAC
gnomAD
rs1187400912 91 F>L No gnomAD
rs1768110240 94 Y>H No Ensembl
rs776543375 96 A>V No ExAC
gnomAD
rs770464526 97 C>S No ExAC
gnomAD
rs1768108883 98 I>S No TOPMed
rs777206426 98 I>V No Ensembl
COSM4815792
COSM450953
COSM1487495
99 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1562061166 101 Y>C No Ensembl
TCGA novel 101 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1369154020 109 S>C No gnomAD
COSM3623121
COSM3623120
COSM3623122
109 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3921127
COSM3921129
COSM3921128
111 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377604358 112 M>L No ESP
TOPMed
rs377604358 112 M>V No ESP
TOPMed
rs1307000538 113 M>I No gnomAD
rs1768063506 115 H>R No Ensembl
rs375275290 115 H>Y No ESP
TOPMed
rs551855128 116 A>T No 1000Genomes
ExAC
gnomAD
rs1650004805 117 E>V No Ensembl
rs770182316 118 Q>H No ExAC
TOPMed
gnomAD
rs1217732551 119 L>P No TOPMed
gnomAD
rs1160973273 119 L>V No gnomAD
rs746430364 122 I>V No ExAC
gnomAD
rs1364308552 124 R>K No gnomAD
rs781570360 125 L>F No ExAC
TOPMed
gnomAD
rs757635579 127 C>R No ExAC
TOPMed
gnomAD
rs1205042285 128 A>V No gnomAD
rs747378600 129 L>V No ExAC
gnomAD
rs1204658061 130 F>L No gnomAD
TCGA novel 132 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778132880 133 I>F No ExAC
gnomAD
TCGA novel 133 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778132880 133 I>V No ExAC
gnomAD
COSM3777346
COSM3777347
COSM3777345
134 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs370495452 134 S>F No ESP
gnomAD
rs758751233 135 L>V No ExAC
TOPMed
gnomAD
rs1455920973 137 Q>K No TOPMed
gnomAD
rs1355811246 137 Q>P No TOPMed
gnomAD
rs1355811246 137 Q>R No TOPMed
gnomAD
rs752696019 138 N>I No ExAC
TOPMed
gnomAD
rs2150406119 138 N>K No Ensembl
rs752696019 138 N>S No ExAC
TOPMed
gnomAD
rs752696019 138 N>T No ExAC
TOPMed
gnomAD
rs1230823848 139 E>K No gnomAD
rs755042298 142 T>A No ExAC
gnomAD
rs753761466 144 K>E No ExAC
gnomAD
rs1351261913 145 V>A No gnomAD
rs766318604 146 E>K No ExAC
gnomAD
rs1768057422 147 V>M No Ensembl
rs1768057021 148 S>C No Ensembl
rs773057861 149 Y>C No ExAC
gnomAD
rs761579923 150 M>I No ExAC
gnomAD
rs767147148 150 M>T No ExAC
gnomAD
rs1768056295 154 N>S No gnomAD
rs1478438447 158 R>Q No TOPMed
gnomAD
COSM282221
rs73726225
158 R>W large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4816178
COSM450952
COSM1134257
160 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150406050 164 K>Q No Ensembl
rs1219714287 165 G>E No TOPMed
gnomAD
rs1768055145 165 G>R No TOPMed
rs1219714287 165 G>V No TOPMed
gnomAD
rs1314279712 166 S>R No TOPMed
gnomAD
rs1767701129 169 S>Y No Ensembl
rs1276991766 172 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1767700917 172 V>L No Ensembl
rs1218231290
COSM5709977
COSM5709978
COSM182140
173 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs866507448 173 R>L No Ensembl
rs866507448 173 R>Q No Ensembl
rs369988431 174 E>K No ESP
ExAC
TOPMed
gnomAD
rs892103843 175 H>R No TOPMed
gnomAD
rs1767699312 176 K>N No gnomAD
rs1767699092 177 V>G No TOPMed
rs566406810 180 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs566406810 180 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2150401073 182 V>L No Ensembl
rs200098741 183 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs536071727 184 G>S No 1000Genomes
ExAC
gnomAD
rs1767697234 187 Q>E No TOPMed
TCGA novel 189 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1767696536 190 V>I No TOPMed
rs901138354 191 T>I No TOPMed
rs901138354 191 T>S No TOPMed
rs1031078336 191 T>S No TOPMed
rs1412262999 195 D>G No gnomAD
rs759136761 196 I>T No ExAC
gnomAD
rs1281211512 196 I>V No TOPMed
gnomAD
rs2150398963 198 S>* No Ensembl
rs1767526276 202 E>D No Ensembl
COSM3777343
COSM3777342
COSM3777344
202 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1767526508 202 E>Q No Ensembl
rs1202537616 207 R>* No gnomAD
COSM4857186
COSM1137483
COSM483720
207 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 207 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1581520319 207 R>Q No Ensembl
rs1480118113 208 T>M No TOPMed
gnomAD
rs774636318 213 N>S No ExAC
TOPMed
gnomAD
rs1311891268 214 M>I No gnomAD
rs768904476 214 M>V No ExAC
gnomAD
COSM2856159
COSM2856161
rs1038727795
COSM2856160
216 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs76740306 218 S>T No 1000Genomes
ExAC
gnomAD
rs944453104 219 S>N No gnomAD
rs769818117 220 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs745949348 220 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1285775
COSM1285774
220 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1459501990 222 H>R No gnomAD
rs1767522257 223 A>G No Ensembl
rs1767522021 224 V>L No TOPMed
gnomAD
TCGA novel 229 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1348263906 230 T>A No gnomAD
rs569555938 230 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 230 T>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
RCV000972422
rs140337156
232 T>I No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1458260804 232 T>S No gnomAD
rs1418081522 233 L>I No gnomAD
rs1269058074 235 D>N No TOPMed
gnomAD
rs1767519911 236 L>M No gnomAD
rs777468774 237 Q>H No ExAC
gnomAD
rs375224761 238 S>F No ESP
ExAC
TOPMed
gnomAD
rs1302679311 241 S>Y No gnomAD
rs753377526 242 G>E No ExAC
TOPMed
gnomAD
rs1367513260 242 G>R No TOPMed
gnomAD
rs755685728 243 E>K No ExAC
gnomAD
rs751964181 244 K>R No ExAC
gnomAD
rs977569625 245 V>A No TOPMed
gnomAD
rs1168895495 247 K>N No gnomAD
rs764678759 247 K>R No ExAC
TOPMed
gnomAD
rs1450766444 249 S>G No gnomAD
COSM595289
COSM1144126
COSM1650569
254 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4782865
COSM1442408
rs775888626
COSM1442409
254 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1767410613 257 E>K No TOPMed
rs759791058 258 R>S No ExAC
gnomAD
rs1581516944 259 V>G No Ensembl
rs1734450669 259 V>L No TOPMed
TCGA novel 260 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs554852294 260 S>F No ExAC
gnomAD
rs2150397602 265 A>G No 1000Genomes
rs772954554 265 A>S No ExAC
TOPMed
gnomAD
rs747944740 266 G>R No ExAC
gnomAD
rs778901339 267 E>G No ExAC
gnomAD
rs1252953122 267 E>K No gnomAD
rs377524718 268 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs1308235773 268 R>Q No TOPMed
gnomAD
rs748855782 270 K>R No ExAC
rs1767405969 272 G>S No TOPMed
rs1767405484 273 S>G No Ensembl
rs779782546 273 S>R No ExAC
gnomAD
COSM5061664
COSM267994
COSM5061663
278 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1392318617 280 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 282 L>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1460876287 283 G>W No gnomAD
rs779508654 286 I>M No ExAC
gnomAD
rs749123689 286 I>V No ExAC
TOPMed
gnomAD
rs1766080379 288 S>L No TOPMed
rs769541785 290 A>S No ExAC
TOPMed
gnomAD
rs769541785 290 A>T No ExAC
TOPMed
gnomAD
rs1766078881 291 D>G No TOPMed
rs1181417033 291 D>N No TOPMed
gnomAD
rs745345224 292 Q>R No ExAC
gnomAD
rs780716160 294 A>P No ExAC
gnomAD
rs1175467159 297 G>C No TOPMed
gnomAD
rs758508802 303 P>R No Ensembl
rs200179034 304 Y>F No ESP
ExAC
TOPMed
gnomAD
rs1424182248 305 R>Q No TOPMed
gnomAD
rs753152754 306 D>H No ExAC
TOPMed
gnomAD
rs1766075092 306 D>V No Ensembl
COSM4844971
COSM4844970
COSM4844972
307 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs868036391 309 L>F No Ensembl
rs1230619489 311 W>C No gnomAD
rs1322422211 316 N>T No TOPMed
gnomAD
rs140191648 317 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs74782516 317 L>W No Ensembl
rs1334588650 318 G>W No gnomAD
COSM5153874
COSM1442406
COSM1442407
319 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1397117772 321 S>R No gnomAD
COSM3921125
COSM3921124
COSM3921126
324 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780507229 325 M>I No ExAC
gnomAD
rs375428169 325 M>L No ESP
ExAC
TOPMed
gnomAD
rs375428169 325 M>V No ESP
ExAC
TOPMed
gnomAD
rs2150380159 326 I>M No Ensembl
rs1766030427 326 I>V No TOPMed
gnomAD
rs1581472551 329 I>T No Ensembl
rs1766030149 329 I>V No Ensembl
rs1581472541 330 S>N No TOPMed
rs1581472541 330 S>T No TOPMed
rs1562037576 331 P>L No Ensembl
rs750628331 333 A>S No ExAC
TOPMed
gnomAD
rs750628331 333 A>T No ExAC
TOPMed
gnomAD
rs1241822646 333 A>V No gnomAD
rs1211255199 334 D>N No gnomAD
COSM3623115
COSM3623116
COSM3623114
335 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1766025868 337 E>G No 1000Genomes
TOPMed
rs1277718786 337 E>K No gnomAD
rs910220165 339 T>A No Ensembl
rs1766024815 340 L>P No Ensembl
rs764098650 346 A>V No ExAC
gnomAD
rs1449942004 348 R>G No gnomAD
rs955140378 348 R>Q No TOPMed
gnomAD
rs1766022545 349 A>T No TOPMed
rs1403819560 350 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1301169091 353 V>M No TOPMed
rs1419407506 355 H>R No TOPMed
gnomAD
rs772803256 356 A>D No ExAC
TOPMed
gnomAD
rs772803256 356 A>V No ExAC
TOPMed
gnomAD
rs561202901 358 V>A No 1000Genomes
ExAC
gnomAD
rs776198139 358 V>M No ExAC
TOPMed
gnomAD
rs1766019003 359 N>S No TOPMed
TCGA novel 361 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs972725145 362 P>L No Ensembl
rs1278722927 363 N>D No TOPMed
gnomAD
rs1278722927 363 N>H No TOPMed
gnomAD
rs199847865 363 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1252489635 363 N>S No TOPMed
gnomAD
COSM450951
rs368453026
COSM1487494
364 A>T Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1766017188 364 A>V No Ensembl
rs780449304 365 K>E No ExAC
gnomAD
rs1766016713 367 I>F No TOPMed
rs1004220316 368 R>* No TOPMed
rs1004220316 368 R>G No TOPMed
COSM4786501
COSM1442405
COSM1442404
368 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs376646474 368 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1766015421 369 E>D No TOPMed
rs1353286062 369 E>K No gnomAD
rs781564779 371 R>Q No ExAC
TOPMed
gnomAD
rs746241908 371 R>W No ExAC
TOPMed
gnomAD
rs371586560 373 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764189371 374 V>I No ExAC
TOPMed
gnomAD
rs764189371 374 V>L No ExAC
TOPMed
gnomAD
rs765089174 375 E>A No ExAC
gnomAD
rs201673713 375 E>D No ExAC
TOPMed
gnomAD
rs765089174 375 E>G No ExAC
gnomAD
COSM6106234
COSM6106236
COSM6106235
rs752618857
COSM1650570
COSM595290
COSM1144125
375 E>K lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1416065098 378 R>G No gnomAD
TCGA novel 379 E>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1766011677 379 E>Q No TOPMed
gnomAD
rs1473163877 380 Q>* No gnomAD
rs1473163877 380 Q>K No gnomAD
rs1252217511 380 Q>L No gnomAD
rs776467254 381 L>V No ExAC
gnomAD
rs905388243 382 S>C No TOPMed
gnomAD
rs905388243 382 S>F No TOPMed
gnomAD
rs1215435208 383 Q>E No gnomAD
TCGA novel 383 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765993037 383 Q>R No ExAC
gnomAD
COSM6173566
COSM6173568
COSM6173567
384 A>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760361283 384 A>T No ExAC
gnomAD
rs771562734 385 E>K No ExAC
gnomAD
rs771360881 387 M>V No ExAC
gnomAD
rs1377828752 388 K>Q No TOPMed
gnomAD
rs1452000005 389 A>S No TOPMed
gnomAD
rs1452000005 389 A>T No TOPMed
gnomAD
rs1765707226 390 P>S No TOPMed
rs1393987610 392 L>P No gnomAD
TCGA novel 393 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2150376301 393 K>T No Ensembl
rs778050727 396 L>F No ExAC
gnomAD
rs184385862 397 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs184385862 397 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs35188434 399 S>A No Ensembl
rs867493334 399 S>F No Ensembl
rs1027014590 403 I>M No TOPMed
COSM1442402
COSM4786328
COSM1442403
404 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765704912 405 E>G No Ensembl
rs2150376263 406 L>Q No Ensembl
rs1302795878 407 T>I No TOPMed
gnomAD
rs1353521768 410 W>* No TOPMed
rs1002184263 411 E>G No Ensembl
rs4716190 415 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM224680
COSM3829731
COSM3829732
418 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1381985985 420 I>L No TOPMed
gnomAD
rs1376485977 420 I>R No gnomAD
rs1374259000 421 A>E No gnomAD
rs1432498590 421 A>T No gnomAD
rs1212476382 422 Q>* No gnomAD
rs761425219 422 Q>H No ExAC
TCGA novel 426 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1212347
rs763841192
COSM1212346
426 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs757974953 427 Q>R No ExAC
TOPMed
gnomAD
rs752311361 428 L>F No ExAC
TOPMed
gnomAD
rs752311361 428 L>V No ExAC
TOPMed
gnomAD
rs1765418570 430 S>N No TOPMed
rs1195668940 431 M>V No gnomAD
COSM1442399
rs1336109030
COSM1442398
432 G>E large_intestine [Cosmic] No cosmic curated
gnomAD
rs972114894 434 S>P No gnomAD
rs369179322 435 L>M No ESP
ExAC
TOPMed
gnomAD
rs1765417184 436 E>D No TOPMed
TCGA novel 436 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1456722627 437 M>V No TOPMed
gnomAD
COSM1137482
COSM483719
439 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762252182 441 K>R No ExAC
gnomAD
rs1333431547 443 G>E No gnomAD
rs768936416 444 D>A No ExAC
TOPMed
gnomAD
rs146614687 444 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs569310446 444 D>N No 1000Genomes
ExAC
gnomAD
rs569310446 444 D>Y No 1000Genomes
ExAC
gnomAD
rs369108069 445 D>G No Ensembl
rs370056121 446 K>R No ESP
TOPMed
gnomAD
rs769743376 447 C>F No ExAC
gnomAD
rs775600287 447 C>R No ExAC
TOPMed
gnomAD
rs912763037 447 C>W No TOPMed
gnomAD
rs769743376 447 C>Y No ExAC
gnomAD
rs1765411999 449 L>V No Ensembl
rs1765411696 451 N>D No Ensembl
rs1765411401 451 N>S No Ensembl
rs1471287927 452 L>P No TOPMed
gnomAD
rs745739374 452 L>V No ExAC
gnomAD
rs1181164813 456 P>S No gnomAD
COSM2856121
COSM2856122
COSM2856120
458 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756933415 459 N>H No ExAC
gnomAD
rs746886160 459 N>S No ExAC
TOPMed
gnomAD
rs377226069 460 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
rs1468289329 461 L>H No gnomAD
rs1362562310 469 H>Y No gnomAD
rs1765154025 470 T>S No Ensembl
rs772022917 471 R>T No ExAC
gnomAD
rs1428355504 473 G>D No gnomAD
rs1765153217 475 D>H No gnomAD
rs1449617517 477 S>C No gnomAD
rs1765152593 478 Q>E No TOPMed
COSM4393384
COSM4393383
COSM4393382
479 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765152416 479 D>N No TOPMed
COSM1596128
COSM1076354
COSM1596127
480 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1164036242 481 Q>R No TOPMed
rs747753942 484 G>D No ExAC
rs778641370 485 I>V No ExAC
TOPMed
gnomAD
rs1765151188 487 I>T No TOPMed
rs949707104 489 P>L No Ensembl
rs754379361 489 P>S No ExAC
gnomAD
COSM4937948
COSM4937949
COSM4937950
490 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 490 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1414045157 492 C>S No gnomAD
rs1184765054 493 E>K No TOPMed
gnomAD
rs1765149721 494 I>T No Ensembl
rs1420834303 496 I>V No gnomAD
rs1474607783 497 A>T No TOPMed
gnomAD
rs1765148546 498 S>P No Ensembl
rs1262947285 499 D>H No gnomAD
rs1765148156 499 D>V No gnomAD
rs1486450824 502 V>I No TOPMed
gnomAD
rs1765146639 503 T>I No TOPMed
gnomAD
rs764406869 503 T>S No ExAC
gnomAD
rs2150368454 504 L>V No Ensembl
rs2150368451 505 T>A No Ensembl
rs1209506776 505 T>I No TOPMed
gnomAD
rs1765145785 506 P>A No gnomAD
rs752846173 506 P>L No ExAC
gnomAD
rs934877720 507 K>N No TOPMed
rs1360956670 510 A>S No TOPMed
gnomAD
rs1360956670 510 A>T No TOPMed
gnomAD
rs759518782 511 R>G No ExAC
TOPMed
gnomAD
rs914476784 512 S>F No TOPMed
gnomAD
rs1209022824 513 C>S No TOPMed
gnomAD
rs1209022824 513 C>Y No TOPMed
gnomAD
rs868601077 516 G>D No gnomAD
rs1018752418 516 G>R No TOPMed
gnomAD
rs1018752418 516 G>S No TOPMed
gnomAD
rs1764939304 517 T>A No gnomAD
rs368788633 517 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368788633 517 T>N No ESP
ExAC
TOPMed
gnomAD
rs1764938628 518 L>V No TOPMed
TCGA novel 519 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1764938067 521 S>G No gnomAD
rs1764937840 521 S>N No Ensembl
rs1764937637 522 T>I No Ensembl
rs1419320894 523 T>S No gnomAD
rs753115739 524 Q>E No ExAC
rs1174973931 524 Q>R No TOPMed
gnomAD
rs35635947 525 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1303793917 525 L>Q No gnomAD
COSM3860654
COSM3860653
COSM3860652
526 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1253528325 526 W>C No gnomAD
rs1764936054 527 H>Y No Ensembl
COSM3860651
COSM3860650
rs866916195
COSM3860649
530 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
COSM275727
rs1764935495
530 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
COSM3410816
COSM3410815
COSM3410817
532 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1264650135 534 G>R No gnomAD
COSM2856113
COSM1442397
COSM1442396
539 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1764934824 539 F>L No TOPMed
rs754033269 541 I>T No ExAC
gnomAD
rs1764924566 544 P>R No TOPMed
gnomAD
rs1383109527 544 P>T No gnomAD
rs111458322 545 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1374321464 547 K>E No gnomAD
rs200546188 548 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767541977 548 R>H No ExAC
TOPMed
gnomAD
TCGA novel 548 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200546188 548 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM5515116
COSM282220
COSM5515117
rs1489727131
549 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs868551894 549 R>Q No TOPMed
gnomAD
rs1463211990 550 D>V No Ensembl
rs761883927 551 W>C No ExAC
gnomAD
rs1562022687 552 L>F No Ensembl
rs962986544 554 D>G No Ensembl
rs962986544 554 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs774189643 555 F>L No ExAC
TOPMed
gnomAD
rs1764921958 555 F>L No Ensembl
rs763904226 556 E>G No ExAC
gnomAD
rs370847942 559 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1581434176 559 T>P No Ensembl
rs745356933 561 P>L No ExAC
TOPMed
gnomAD
rs1281400011 564 H>R No gnomAD
rs1581434087 565 D>A No Ensembl
rs770457657 566 L>P No ExAC
TOPMed
gnomAD
rs748638232 567 D>A No ExAC
gnomAD
rs967700130 568 A>T No TOPMed
TCGA novel 569 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1764918757 570 S>C No TOPMed
gnomAD
rs1255894708 570 S>R No gnomAD
rs1764918387 572 A>T No gnomAD
rs1391936531 573 S>C No TOPMed
gnomAD
rs1391936531 573 S>F No TOPMed
gnomAD
rs866509249 574 S>Y No Ensembl
rs999980303 575 E>D No TOPMed
gnomAD
rs1228838176 576 P>L No gnomAD
rs1764916661 577 D>G No Ensembl
rs1256498250 577 D>H No gnomAD
rs749682554 578 Y>C No ExAC
TOPMed
gnomAD
rs1399852443 579 N>S No TOPMed
gnomAD
rs1483476338 580 Y>C No TOPMed
gnomAD
rs780411887 580 Y>H No ExAC
gnomAD
rs756454963 581 E>K No ExAC
COSM1154624
COSM4870797
COSM1076352
581 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 583 A>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 583 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2150365417 584 Q>E No Ensembl
rs750501727 585 M>I No ExAC
TOPMed
gnomAD
rs1412348036 585 M>K No gnomAD
rs781383135 588 I>T No ExAC
TOPMed
gnomAD
rs1223453963 588 I>V No TOPMed
gnomAD
rs902524477 589 M>I No Ensembl
rs1253178495 589 M>L No gnomAD
rs1253178495 589 M>V No gnomAD
rs771102186 597 P>L No ExAC
rs192358685 597 P>T No 1000Genomes
ExAC
rs1417042238 598 V>A No TOPMed
rs1165077870 598 V>L No TOPMed
rs187906244 599 Q>E No 1000Genomes
ExAC
rs1052153695 599 Q>R No gnomAD
rs777668774 600 N>D No ExAC
gnomAD
rs1764027781 600 N>K No TOPMed
COSM3994742
COSM3994743
COSM3994744
rs1210948997
602 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1764027420 603 Q>H No Ensembl
COSM1076350
COSM1596130
COSM1596129
606 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1390884154 608 Q>R No TOPMed
gnomAD
rs754754776 609 Y>H No ExAC
TOPMed
gnomAD
COSM2856100
COSM1196653
COSM1196652
rs753700328
610 L>V lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1338695019 613 K>R No gnomAD
rs1581403731 614 R>S No gnomAD
rs369577474 619 E>Q No ESP
ExAC
gnomAD
rs761409991 621 R>Q No ExAC
TOPMed
gnomAD
rs1764023441 621 R>W No TOPMed
gnomAD
rs1246843671 623 M>T No Ensembl
COSM3623104
COSM3623102
COSM3623103
623 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765898617 624 Y>C No ExAC
gnomAD
rs1764022192 625 E>K No TOPMed
COSM3860646
rs776913211
COSM3860647
COSM3860648
626 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2150355029
COSM1621238
COSM1621237
COSM1621236
626 R>W liver [Cosmic] No cosmic curated
Ensembl
rs773490796 627 E>D No ExAC
gnomAD
rs199545656 627 E>K No ExAC
TOPMed
gnomAD
rs748286787 630 Q>E No ExAC
gnomAD
rs1050493386 630 Q>H No gnomAD
rs1581403493 631 L>P No Ensembl
rs778818169 632 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs754947976 632 R>H No ExAC
TOPMed
gnomAD
rs754947976 632 R>P No ExAC
TOPMed
gnomAD
rs1764019791 633 Q>H No TOPMed
rs1243179671 634 Q>H No TOPMed
rs903296544 634 Q>R No TOPMed
gnomAD
rs1581403413 635 L>P No Ensembl
rs1216547371 636 S>C No gnomAD
rs1581403395 636 S>P No Ensembl
rs749059679 637 P>S No ExAC
gnomAD
rs749059679 637 P>T No ExAC
gnomAD
rs749973962 638 D>N No ExAC
TOPMed
gnomAD
rs1581403320 639 R>G No Ensembl
rs1381359093 639 R>K No gnomAD
rs1204925012 639 R>S No TOPMed
gnomAD
rs1301176260 640 Q>H No TOPMed
gnomAD
rs1581403264 641 P>A No Ensembl
rs767209431 641 P>L No ExAC
TOPMed
gnomAD
rs767209431 641 P>Q No ExAC
TOPMed
gnomAD
rs1418673915 643 S>N No TOPMed
gnomAD
rs751158530 643 S>R No ExAC
TOPMed
gnomAD
rs1253744102 645 G>D No gnomAD
rs371481890 645 G>S No ESP
ExAC
TOPMed
gnomAD
rs1764015491 646 P>L No TOPMed
rs777228908 646 P>S No ExAC
gnomAD
rs766587571 647 D>A No ExAC
gnomAD
rs766587571 647 D>G No ExAC
gnomAD
rs1764014888 648 R>C No TOPMed
gnomAD
rs932259103 648 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs932259103 648 R>P No TOPMed
gnomAD
rs1239902675 650 A>T No TOPMed
gnomAD
rs772348284 651 Y>C No ExAC
TOPMed
gnomAD
rs773294233 651 Y>H No ExAC
gnomAD
rs1764013529 652 S>G No Ensembl
rs761849509 653 S>R No ExAC
TOPMed
gnomAD
rs1764012978 655 T>A No TOPMed
rs769462021 656 A>T No Ensembl
rs768744386 656 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1227791929 657 Q>R No TOPMed
gnomAD
rs780042277 659 K>Q No ExAC
gnomAD
rs1581402971 660 V>G No Ensembl
rs769414007 660 V>L No ExAC
TOPMed
gnomAD
rs745729592 661 T>N No ExAC
gnomAD
rs745729592 661 T>S No ExAC
gnomAD
rs757023213 664 A>P No ExAC
TOPMed
gnomAD
rs757023213 664 A>S No ExAC
TOPMed
gnomAD
rs757023213 664 A>T No ExAC
TOPMed
gnomAD
rs1764010441 666 E>* No Ensembl
rs757989336 666 E>D No ExAC
gnomAD
rs575782974 666 E>G No 1000Genomes
ExAC
gnomAD
rs575782974 666 E>V No 1000Genomes
ExAC
gnomAD
rs754242420 667 R>T No ExAC
gnomAD
rs780376924 669 E>D No ExAC
gnomAD
rs1217645186 669 E>K No TOPMed
gnomAD
rs1388089444 671 F>L No TOPMed
rs1314241716 672 R>* No gnomAD
rs746859406 672 R>P No ExAC
TOPMed
gnomAD
rs746859406 672 R>Q No ExAC
TOPMed
gnomAD
rs549732971 676 A>E No 1000Genomes
ExAC
gnomAD
rs549732971 676 A>G No 1000Genomes
ExAC
gnomAD
rs1282088227 677 K>E No gnomAD
rs771797492 679 R>* No ExAC
TOPMed
gnomAD
rs747590404 679 R>Q No ExAC
TOPMed
gnomAD
rs1763200900 681 Q>R No Ensembl
rs1390996248 686 N>S No TOPMed
rs1189693919 687 T>N No gnomAD
TCGA novel
rs370516567
688 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ESP
ExAC
TOPMed
gnomAD
rs377660043 689 V>L No ESP
TOPMed
gnomAD
rs1432845228 692 A>T No TOPMed
gnomAD
rs1235817660 692 A>V No TOPMed
rs1275839559 693 N>D No TOPMed
gnomAD
rs1459323073 693 N>K No TOPMed
gnomAD
rs1256559133 695 L>M No gnomAD
rs1324550631 696 A>G No gnomAD
rs751985111 696 A>T No ExAC
gnomAD
COSM3777339
COSM3777340
COSM3777341
697 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1356593399 700 S>G No gnomAD
rs1763197203 700 S>N No TOPMed
rs764265841 701 K>E No ExAC
TOPMed
gnomAD
rs1241944704 701 K>I No gnomAD
COSM3921123
COSM3921122
COSM3921121
703 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs370174871 704 D>H No ESP
ExAC
TOPMed
gnomAD
rs370174871 704 D>N No ESP
ExAC
TOPMed
gnomAD
rs370174871 704 D>Y No ESP
ExAC
TOPMed
gnomAD
rs766492554 708 T>A No ExAC
gnomAD
rs1165263482 708 T>I No gnomAD
rs766492554 708 T>S No ExAC
gnomAD
rs760515749
COSM3393990
COSM3393992
COSM3393991
710 Q>R pancreas [Cosmic] No cosmic curated
ExAC
gnomAD
rs773191114 711 I>M No ExAC
gnomAD
rs973933871 712 P>L No TOPMed
gnomAD
rs973933871 712 P>R No TOPMed
gnomAD
rs2150344209 712 P>T No Ensembl
rs1442077923 713 A>T No gnomAD
rs1175798971 714 A>E No gnomAD
rs1175798971 714 A>V No gnomAD
rs1236942436 716 L>F No gnomAD
rs747797233 718 A>T No ExAC
gnomAD
rs1452587260 719 N>D No gnomAD
rs1245952704 719 N>S No Ensembl
rs373203654 720 R>K No ESP
ExAC
TOPMed
gnomAD
rs373203654 720 R>T No ESP
ExAC
TOPMed
gnomAD
rs1762870549 722 R>G No gnomAD
rs767276586 724 A>S No ExAC
gnomAD
rs767276586 724 A>T No ExAC
gnomAD
rs545311161 726 V>G No 1000Genomes
ExAC
gnomAD
rs1358726104 727 S>R No gnomAD
rs1168382464 728 E>A No Ensembl
rs774038439 730 A>T No ExAC
gnomAD
rs1427947280 731 I>F No gnomAD
rs768256939 731 I>S No ExAC
TOPMed
gnomAD
rs1581361645 735 R>K No TOPMed
rs1762868746 737 G>E No TOPMed
gnomAD
rs1423859782 739 S>C No TOPMed
gnomAD
rs1423859782 739 S>G No TOPMed
gnomAD
rs201227106 742 V>A No gnomAD
rs775025708 745 I>L No ExAC
TOPMed
gnomAD
rs769312626 745 I>T No ExAC
TOPMed
gnomAD
rs775025708 745 I>V No ExAC
TOPMed
gnomAD
rs1210287245 746 E>V No gnomAD
rs747452757 749 E>D No ExAC
TOPMed
gnomAD
rs2150340038 749 E>V No Ensembl
rs1762866642 753 I>T No TOPMed
gnomAD
rs1279018298 754 D>G No gnomAD
COSM1596133
COSM1596134
COSM1076344
755 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1220710304 757 D>Y No gnomAD
rs755300488 758 L>F No ExAC
gnomAD
rs780240346 759 Y>C No ExAC
TOPMed
gnomAD
rs754136335 759 Y>N No ExAC
TOPMed
gnomAD
rs1332818199 763 K>E No gnomAD
rs750314357 764 E>D No ExAC
gnomAD
rs201426866 764 E>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs767411948 765 K>E No ExAC
gnomAD
TCGA novel 766 V>F Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs761661761 766 V>I No ExAC
gnomAD
rs751348105 767 P>A No ExAC
gnomAD
COSM3410813
COSM3410814
COSM3410812
768 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs567873540 770 K>E No 1000Genomes
ExAC
gnomAD
rs9358140 771 R>K No ExAC
TOPMed
gnomAD
rs9358140 771 R>T No ExAC
TOPMed
gnomAD
rs756248183 772 L>I No ExAC
TOPMed
gnomAD
rs1176522355 774 G>A No gnomAD
rs764497166 774 G>R No ExAC
gnomAD
COSM5154412
COSM1442394
COSM1442395
775 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1232479730 776 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs961791795 777 G>D No TOPMed
rs1222620222 777 G>R No gnomAD
rs1222620222 777 G>S No gnomAD
rs1323522887 778 D>N No gnomAD
rs1287824852 779 P>A No gnomAD
rs1762757868 779 P>R No Ensembl
COSM4947817
COSM1442392
COSM1442393
780 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757188997 781 Y>C No ExAC
gnomAD
rs1024140355 781 Y>H No TOPMed
gnomAD
rs751533445 783 A>P No ExAC
TOPMed
gnomAD
rs751533445 783 A>T No ExAC
TOPMed
gnomAD
TCGA novel 785 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs969121555 786 N>D No Ensembl
rs1444971735 787 H>R No gnomAD
rs758205572 788 N>D No ExAC
TOPMed
gnomAD
rs758205572 788 N>H No ExAC
TOPMed
gnomAD
rs1392808385 788 N>K No TOPMed
rs377522532 788 N>S No ESP
ExAC
TOPMed
gnomAD
rs764940401 789 L>V No ExAC
gnomAD
rs776055042 790 I>T No ExAC
gnomAD
rs537563876 790 I>V No 1000Genomes
ExAC
gnomAD
rs1382070598 791 G>A No gnomAD
rs865883552 791 G>R No Ensembl
rs865883552 791 G>W No Ensembl
rs991788242 792 V>L No TOPMed
gnomAD
rs1267793518 793 A>S No gnomAD
rs774925806 795 V>I No ExAC
TOPMed
gnomAD
rs1221818829 796 F>S No gnomAD
rs1762752736 798 E>K No TOPMed
rs1031228689 800 L>F No TOPMed
gnomAD
rs1031228689 800 L>V No TOPMed
gnomAD
rs1316643164 801 F>L No TOPMed
gnomAD
rs775849508 801 F>L No ExAC
TOPMed
gnomAD
rs377260168 802 C>R No ESP
TOPMed
gnomAD
rs1365012546 803 D>G No TOPMed
gnomAD
rs1365012546 803 D>V No TOPMed
gnomAD
rs1435615603 804 V>G No gnomAD
rs1233687923 805 K>T No TOPMed
gnomAD
rs764895482 807 Q>H No gnomAD
rs778278248 808 Y>* No ExAC
TCGA novel 808 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745933985 810 V>G No ExAC
gnomAD
rs1452979067 812 I>V No TOPMed
gnomAD
rs373449548 813 I>T No ESP
ExAC
TOPMed
gnomAD
rs1762749270 814 S>T No Ensembl
rs776043267 819 V>L No ExAC
gnomAD
rs1561988766 820 A>V No gnomAD
rs770300082 822 R>C No ExAC
gnomAD
rs1226003141 822 R>H No TOPMed
gnomAD
rs770905756 825 V>L No ExAC
TOPMed
gnomAD
rs770905756 825 V>M No ExAC
TOPMed
gnomAD
rs1762356543 827 V>A No TOPMed
rs1762356226 828 M>T No TOPMed
gnomAD
rs1450377000 828 M>V No gnomAD
rs747183114 829 R>G No ExAC
gnomAD
rs373766807 829 R>H No ESP
ExAC
TOPMed
gnomAD
rs758382026 831 T>A No ExAC
TOPMed
gnomAD
rs1166393503 832 G>R No gnomAD
rs1156776569 833 A>T No gnomAD
rs748106972 834 V>I No ExAC
TOPMed
gnomAD
rs1369130811 835 P>R No gnomAD
rs1367448908 835 P>T No TOPMed
gnomAD
rs1479781957 837 R>C No Ensembl
rs1479781957 837 R>G No Ensembl
rs778640625 837 R>H No ExAC
TOPMed
gnomAD
rs778640625 837 R>L No ExAC
TOPMed
gnomAD
rs1443309884 838 V>M No TOPMed
gnomAD
rs753372514 839 V>L No ExAC
gnomAD
rs753372514 839 V>M No ExAC
gnomAD
rs1459390704 840 E>G No gnomAD
rs1302368508 840 E>Q No TOPMed
rs1194880481 841 D>A No gnomAD
rs532695204 841 D>H No 1000Genomes
gnomAD
rs1194880481 841 D>V No gnomAD
COSM3381532
COSM3381533
COSM3381534
rs1581337635
842 D>E pancreas [Cosmic] No cosmic curated
Ensembl
rs1762352732 842 D>N No Ensembl
rs779813008 843 S>F No ExAC
TOPMed
gnomAD
rs1356370675 843 S>P No gnomAD
rs1356370675 843 S>T No gnomAD
rs779813008 843 S>Y No ExAC
TOPMed
gnomAD
COSM4872273
rs565377483
COSM1154622
COSM1076342
844 S>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
rs1385343377 847 S>T No TOPMed
gnomAD
rs749992718 848 S>G No ExAC
TOPMed
gnomAD
COSM3410807
COSM3410808
rs749992718
COSM3410806
848 S>R central_nervous_system [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1448656729 848 S>T No gnomAD
rs764673066 850 S>G No ExAC
TOPMed
gnomAD
rs1561988484 851 G>R No Ensembl
rs1327019605 852 S>C No gnomAD
rs940196144 853 L>F No TOPMed
gnomAD
rs940196144 853 L>V No TOPMed
gnomAD
TCGA novel 854 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1391795171 855 V>D No gnomAD
rs547042809
COSM3697694
COSM3697696
COSM3697695
856 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201527270 857 D>H No ESP
ExAC
TOPMed
gnomAD
rs201527270 857 D>N No ESP
ExAC
TOPMed
gnomAD
rs1159821821 858 S>G No gnomAD
TCGA novel 858 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374346705 858 S>N No 1000Genomes
ExAC
gnomAD
rs771229208 859 S>G No ExAC
gnomAD
rs202026754 860 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202026754 860 G>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1621235
COSM1621234
COSM1621233
rs778836721
862 I>V liver [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM1596137
COSM1596138
COSM1076338
rs768322177
865 R>* endometrium [Cosmic] No cosmic curated
ExAC
gnomAD
rs749172071 865 R>L No ExAC
TOPMed
gnomAD
rs749172071 865 R>Q No ExAC
TOPMed
gnomAD
rs1348202782 866 V>F No TOPMed
gnomAD
rs1348202782 866 V>I No TOPMed
gnomAD
rs755839052 870 T>A No ExAC
gnomAD
rs1762345642 870 T>I No TOPMed
rs950024611 872 R>Q No TOPMed
gnomAD
rs780804691 872 R>W No ExAC
TOPMed
gnomAD
rs749013206 873 V>L No ExAC
gnomAD
TCGA novel 875 I>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1278918131 877 E>K No TOPMed
gnomAD
rs1433031486 878 A>T No gnomAD
rs1442452108 879 T>A No TOPMed
gnomAD
rs769503676 879 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs769503676 879 T>R No ExAC
TOPMed
gnomAD
rs1408762555 883 L>V No gnomAD
rs976895510 884 N>H No Ensembl
rs1173861716 884 N>S No TOPMed
gnomAD
COSM1487493
COSM4815277
COSM450950
887 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1762298254 887 N>H No Ensembl
rs1762297698 891 C>R No Ensembl
rs1762296943 895 F>L No TOPMed
rs1309539426 896 W>R No TOPMed
gnomAD
rs781002633 897 D>G No ExAC
gnomAD
rs756826675 898 Q>R No ExAC
gnomAD
rs202231672 899 C>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755466789 900 E>A No ExAC
gnomAD
rs766700241 901 S>C No ExAC
gnomAD
rs756486869 902 T>A No ExAC
TOPMed
gnomAD
rs532977529 902 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1449412775 905 A>T No gnomAD
rs1452416193 906 P>L No TOPMed
gnomAD
rs1452416193 906 P>Q No TOPMed
gnomAD
rs1335134210 906 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1581334781 907 V>G No Ensembl
rs1243640289 907 V>L No gnomAD
rs1581334735 908 V>G No Ensembl
rs541125345 908 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs905344128 909 D>G No TOPMed
rs1762292529 909 D>N No Ensembl
COSM3623095
COSM3623094
COSM3623093
rs770759632
911 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3623092
COSM3623091
COSM3623090
912 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201026056 913 P>S No ESP
ExAC
TOPMed
gnomAD
rs1762291355 914 S>L No TOPMed
rs777300692 915 P>R No ExAC
gnomAD
rs749746390 918 K>R No ExAC
gnomAD
rs1762290359 919 D>G No Ensembl
COSM3623087
COSM3623089
COSM3623088
919 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1762290517 919 D>N No TOPMed
rs1206895453 920 A>T No TOPMed
gnomAD
rs866985103 920 A>V No TOPMed
gnomAD
rs1762289305 921 Q>R No TOPMed
rs1762288781 926 F>I No Ensembl
TCGA novel
rs1762288598
926 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1362180764 927 S>F No TOPMed
gnomAD
rs1316290150 927 S>P No TOPMed
rs1362180764 927 S>Y No TOPMed
gnomAD
rs1762287614 928 H>R No TOPMed
rs1245635512 930 K>T No gnomAD
rs1762075727 931 D>H No Ensembl
rs781496280 932 Y>H No ExAC
TOPMed
gnomAD
rs1275096365 932 Y>S No gnomAD
rs1406204595 933 V>A No TOPMed
gnomAD
rs1188385719 933 V>M No TOPMed
rs1420216008 935 N>K No gnomAD
rs566354052 935 N>S No 1000Genomes
ExAC
gnomAD
rs867482809 936 V>L No gnomAD
COSM1596140
COSM1596139
COSM1076336
939 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777912527 941 L>R No ExAC
TOPMed
gnomAD
rs1191596184 947 G>E No TOPMed
gnomAD
rs548160058 950 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1266876591 950 A>V No TOPMed
gnomAD
rs1038175034 951 I>V No TOPMed
gnomAD
rs778797717 955 G>D No Ensembl
rs1435803579 956 H>R No TOPMed
gnomAD
COSM3860644
COSM3860645
rs377225601
COSM3860643
957 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759509689 957 R>W No ExAC
TOPMed
gnomAD
rs371840880 958 C>Y No ESP
ExAC
TOPMed
gnomAD
rs1263307875 960 G>R No gnomAD
rs1762069717 961 N>S No TOPMed
rs367717609 962 G>S No ESP
ExAC
TOPMed
gnomAD
rs771660259 963 S>I No ExAC
TOPMed
gnomAD
rs761363264 963 S>R No ExAC
TOPMed
gnomAD
rs1360581996 963 S>R No TOPMed
gnomAD
rs771660259 963 S>T No ExAC
TOPMed
gnomAD
rs773800441 965 I>L No ExAC
gnomAD
rs1313154357 966 W>* No gnomAD
rs1363961771 967 E>G No gnomAD
rs1400123113 967 E>K No gnomAD
rs746302478 968 V>G No ExAC
gnomAD
rs201596924 968 V>I No 1000Genomes
ExAC
rs771310891 969 D>E No ExAC
gnomAD
rs1359528903 969 D>H No TOPMed
gnomAD
rs1359528903 969 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs200248913 970 S>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM450948
COSM4812866
COSM1134256
972 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1421638722 975 T>K No TOPMed
gnomAD
rs1264427318 977 T>A No 1000Genomes
TOPMed
gnomAD
COSM3994739
COSM3994741
COSM3994740
977 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1264427318 977 T>S No 1000Genomes
TOPMed
gnomAD
rs779073192 979 H>P No ExAC
gnomAD
rs755122590 979 H>Q No ExAC
gnomAD
rs779073192 979 H>R No ExAC
gnomAD
rs753814401 981 R>K No ExAC
gnomAD
rs1761882989 983 N>D No Ensembl
rs1486751512 984 E>D No TOPMed
gnomAD
rs768564251 986 T>M No ExAC
TOPMed
gnomAD
rs1317110266 987 R>* No gnomAD
rs1333688304 987 R>* No gnomAD
rs1317110266 987 R>G No gnomAD
rs779969750 987 R>Q No ExAC
TOPMed
gnomAD
rs755106049 988 R>S No ExAC
TOPMed
gnomAD
rs1267538316 989 I>M No TOPMed
gnomAD
rs749421370 991 M>I No ExAC
TOPMed
gnomAD
rs780021482 992 W>* No ExAC
TOPMed
gnomAD
rs780021482 992 W>C No ExAC
TOPMed
gnomAD
rs1386350732 994 S>C No TOPMed
gnomAD
COSM3623086
COSM3623084
COSM3623085
994 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1761879754
COSM1329198
COSM1329199
995 I>M ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1761879939 995 I>V No TOPMed
gnomAD
rs750404304 999 N>S No ExAC
TOPMed
gnomAD
rs936651146 1000 E>D No TOPMed
gnomAD
COSM231071
rs1561980933
1001 L>S skin [Cosmic] No cosmic curated
Ensembl
rs2150324267 1002 G>* No Ensembl
rs1183055763 1003 E>D No gnomAD
rs1385016290 1003 E>G No gnomAD
rs902513906 1003 E>K No Ensembl
rs902513906 1003 E>Q No Ensembl
rs1761877957 1005 A>V No TOPMed
TCGA novel 1008 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2150324246 1008 E>Q No 1000Genomes
rs751195710 1010 H>Y No ExAC
gnomAD
rs201793412 1014 D>G No ESP
ExAC
TOPMed
gnomAD
rs1490380826 1014 D>N No gnomAD
rs201793412 1014 D>V No ESP
ExAC
TOPMed
gnomAD
rs1490380826 1014 D>Y No gnomAD
rs1581946204 1016 N>S No TOPMed
gnomAD
rs1761875964 1018 G>E No TOPMed
gnomAD
rs1761875964 1018 G>V No TOPMed
gnomAD
rs1358716716 1020 I>V No gnomAD
rs376231863 1024 R>K No ESP
ExAC
TOPMed
gnomAD
rs1363923270 1025 Q>R No TOPMed
gnomAD
COSM483717
COSM4857294
COSM1137480
1026 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758007445 1028 S>P No ExAC
gnomAD
rs1039150543 1029 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1447855174 1030 R>G No TOPMed
gnomAD
COSM3860641
COSM3860640
COSM3860642
1030 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1761854259 1033 V>I No TOPMed
gnomAD
rs373262206 1034 T>M No ESP
ExAC
TOPMed
gnomAD
rs1761853676 1035 V>M No TOPMed
gnomAD
rs1761853120 1039 Q>K No Ensembl
rs1189716618 1040 H>L No gnomAD
rs1761851778 1047 M>T No TOPMed
gnomAD
rs189201100 1048 V>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762249432 1051 I>M No ExAC
gnomAD
rs1336988363 1051 I>T No TOPMed
gnomAD
rs1296480722 1051 I>V No TOPMed
rs774810280 1052 L>Q No ExAC
gnomAD
rs774810280 1052 L>R No ExAC
gnomAD
rs769171168 1053 S>L No ExAC
gnomAD
TCGA novel 1054 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1761849878 1054 V>L No TOPMed
rs1761849500 1055 S>C No TOPMed
rs1265260343 1055 S>T No gnomAD
rs763197579 1056 I>V No ExAC
TOPMed
gnomAD
rs1278632122 1057 G>S No TOPMed
gnomAD
rs769749811 1058 C>W No ExAC
gnomAD
rs746025544 1059 V>G No ExAC
rs780960120 1061 A>S No ExAC
rs1201762550 1064 T>I No TOPMed
rs746982399 1065 K>I No ExAC
gnomAD
rs746982399 1065 K>R No ExAC
gnomAD
rs777480189 1067 Q>K No ExAC
gnomAD
rs758203518 1069 G>E No ExAC
gnomAD
rs1761846804 1069 G>R No TOPMed
rs3734234 1070 L>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3734234 1070 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1419629108 1071 D>N No gnomAD
rs1481022523 1073 Y>H No gnomAD
COSM268228 1074 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777746220 1076 D>A No ExAC
gnomAD
rs746892812 1076 D>N No ExAC
gnomAD
COSM3777337
COSM3777338
1077 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1383146587 1077 D>V No gnomAD
rs1181135084 1079 D>G No gnomAD
rs1233716913 1082 D>Y No gnomAD
rs748018940 1083 M>I No ExAC
TOPMed
gnomAD
rs1648263432 1083 M>T No Ensembl
rs1761387101 1086 Y>* No Ensembl
rs1761386668 1087 Q>E No TOPMed
rs1274464108 1087 Q>H No gnomAD
rs79653168 1088 E>D No Ensembl
rs760811127 1088 E>G No ExAC
gnomAD
rs772049995 1089 E>D No ExAC
TOPMed
gnomAD
rs773106750 1089 E>G No ExAC
gnomAD
TCGA novel 1089 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1091 L>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1092 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1160217254 1093 C>Y No TOPMed
gnomAD
COSM1076334
rs192133963
COSM1596141
COSM1596142
1094 V>I endometrium [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192133963
RCV000975103
1094 V>L No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs768338454 1096 E>K No ExAC
gnomAD
COSM4947499
COSM4947498
COSM86222
rs1761189899
1097 R>T ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs748909909 1099 S>L No ExAC
gnomAD
rs1221703921 1100 D>E No gnomAD
rs1761189517 1100 D>G No Ensembl
rs1761189167 1101 A>T No TOPMed
rs779906738 1101 A>V No ExAC
TOPMed
gnomAD
rs1761188810 1103 I>V No TOPMed
rs755676744 1104 K>R No ExAC
TOPMed
gnomAD
TCGA novel 1105 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745411489 1106 R>Q No ExAC
TOPMed
gnomAD
rs1273519098 1107 E>* No TOPMed
gnomAD
rs1761187646 1110 D>E No gnomAD
rs112367304 1111 E>K No Ensembl
rs112367304 1111 E>Q No Ensembl
rs1050210080 1113 I>L No Ensembl
rs2150315577 1115 K>R No Ensembl
rs1561972286 1116 V>I No Ensembl
COSM1442389
COSM2856011
COSM2856008
COSM1442388
rs1346755993
COSM2856010
COSM2856009
1116 V>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1455836418 1117 S>G No gnomAD
rs753174132 1117 S>I No ExAC
TOPMed
gnomAD
rs1561972250 1118 N>K No Ensembl
TCGA novel 1119 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765582187 1120 T>I No ExAC
TOPMed
gnomAD
rs368765608 1121 E>A No ESP
ExAC
TOPMed
gnomAD
rs1309161633 1124 E>K No TOPMed
gnomAD
rs1403988480 1125 D>Y No TOPMed
rs780806668 1126 D>H No ExAC
TOPMed
gnomAD
rs780806668 1126 D>N No ExAC
TOPMed
gnomAD
rs2150312937 1127 V>M No Ensembl
rs748676840 1128 E>K No ExAC
TOPMed
gnomAD
rs1012385455 1129 R>Q No TOPMed
rs755339587 1131 A>T No ExAC
TOPMed
gnomAD
COSM272864 1131 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1462585050 1134 V>A No gnomAD
rs754253648 1135 E>Q No ExAC
rs1581915430 1136 Q>R No Ensembl
rs1386232775 1138 V>A No gnomAD
rs1449184730 1138 V>I No gnomAD
rs1449184730 1138 V>L No gnomAD
rs1389775006 1139 G>E No TOPMed
gnomAD
TCGA novel 1142 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1272301877 1150 P>S No gnomAD
rs767573213 1151 A>G No ExAC
gnomAD
rs1204335649 1151 A>T No TOPMed
gnomAD
rs767573213 1151 A>V No ExAC
gnomAD
rs1760983640 1154 S>G No TOPMed
rs751506792 1155 G>R No ExAC
gnomAD
rs1760983214 1159 A>S No TOPMed
gnomAD
COSM4786309
COSM1442387
COSM1442386
1162 D>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1760982313 1162 D>E No Ensembl
rs547479559 1162 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs547479559 1162 D>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs1391973898 1163 W>L No gnomAD
rs556247264 1164 I>N No 1000Genomes
ExAC
gnomAD
rs750627392 1166 P>L No ExAC
TOPMed
gnomAD
rs1326147197 1167 P>L No gnomAD
TCGA novel 1167 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1137479
COSM1137478
COSM4858279
1169 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1385384449 1169 M>T No gnomAD
rs537497725 1171 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1760803187 1173 I>M No TOPMed
rs1157711566 1173 I>T No gnomAD
rs570438110 1173 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1196686610 1179 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1196686610 1179 D>Y No TOPMed
gnomAD
rs762942389 1182 A>S No ExAC
gnomAD
rs200192784 1182 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs886158517 1183 D>A No Ensembl
rs1397069126 1183 D>E No gnomAD
COSM3829724
COSM3829722
COSM3829723
1184 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765307051 1186 S>C No ExAC
gnomAD
COSM6173576
COSM6173577
COSM6173575
1187 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377483649 1187 A>T No ESP
ExAC
TOPMed
gnomAD
rs372713505 1188 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201386556 1190 Q>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1760549018 1191 L>I No Ensembl
rs760182991 1192 V>L No ExAC
TOPMed
gnomAD
rs1373234653 1193 G>S No TOPMed
gnomAD
rs1185459475 1194 P>L No gnomAD
COSM4695886
COSM4695885
COSM4695887
1195 H>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1441922128 1195 H>P No gnomAD
rs1441922128 1195 H>R No gnomAD
rs1760547269 1197 S>Y No TOPMed
rs1340752220 1198 G>A No TOPMed
gnomAD
rs1340752220 1198 G>D No TOPMed
gnomAD
rs1207908162 1198 G>S No TOPMed
gnomAD
rs1340752220 1198 G>V No TOPMed
gnomAD
TCGA novel 1199 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1581901120 1199 V>G No Ensembl
rs374802927 1199 V>M No ESP
ExAC
TOPMed
gnomAD
rs1581901107 1200 N>T No Ensembl
rs746405854 1207 H>D No ExAC
gnomAD
rs776820595 1207 H>L No ExAC
gnomAD
rs988950601 1208 G>C No gnomAD
rs956157720 1208 G>V No gnomAD
rs771329476 1209 S>N No ExAC
gnomAD
rs2150307638 1212 F>C No Ensembl
rs1406908946 1212 F>L No gnomAD
COSM1487491
COSM450947
COSM4815345
1213 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758523339 1213 Y>C No ExAC
TOPMed
gnomAD
rs778208739 1213 Y>H No ExAC
TOPMed
gnomAD
rs1303042403 1215 P>A No TOPMed
rs1472628107 1215 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1218892982 1216 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1482345909 1217 I>R No gnomAD
rs34296471 1217 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1251754428 1218 K>Q No gnomAD
rs1485839101 1219 H>R No TOPMed
rs1222717904 1220 S>R No gnomAD
rs754834948 1221 D>G No ExAC
TOPMed
gnomAD
rs753823485 1222 D>N No ExAC
gnomAD
rs780108694 1226 A>S No ExAC
gnomAD
rs780108694 1226 A>T No ExAC
gnomAD
rs559223242 1227 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1365459038 1228 A>T No gnomAD
rs780983796 1231 D>H No ExAC
gnomAD
TCGA novel 1232 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1596147
COSM1076326
rs1760502234
COSM1596148
1233 S>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs1455653081 1235 H>P No gnomAD
rs1760501218 1239 H>D No Ensembl
TCGA novel 1241 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200009476 1243 V>I No ESP
ExAC
TOPMed
gnomAD
rs1760500597 1245 P>S No TOPMed
gnomAD
rs1760500309 1246 Q>R No Ensembl
rs762581033 1247 N>S No ExAC
TOPMed
gnomAD
rs1760499178 1248 E>G No Ensembl
rs1760499369 1248 E>K No TOPMed
rs754270600 1250 I>M No ExAC
TOPMed
gnomAD
rs761108518 1253 I>L No ExAC
gnomAD
rs1425682608 1253 I>M No Ensembl
rs773672086 1256 T>A No ExAC
gnomAD
rs1760497501 1256 T>I No Ensembl
rs61729950 1257 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61729950 1257 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774773858 1258 V>I No ExAC
gnomAD
rs768616701 1259 Q>H No ExAC
gnomAD
rs749422448 1261 S>N No ExAC
TOPMed
gnomAD
rs1581899438 1262 H>P No Ensembl
COSM275726 1262 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1760496114 1262 H>Y No Ensembl
rs779829915 1263 P>L No ExAC
gnomAD
rs2150307050 1265 A>T No Ensembl
rs1295199486 1265 A>V No gnomAD
rs780897761 1266 M>I No ExAC
TOPMed
gnomAD
rs1356232950 1266 M>R No TOPMed
gnomAD
rs1356232950 1266 M>T No TOPMed
gnomAD
rs879733612 1266 M>V No TOPMed
gnomAD
rs1760494080 1268 L>F No TOPMed
rs555103615 1269 V>I No 1000Genomes
ExAC
gnomAD
rs370736619 1270 L>I No ESP
ExAC
TOPMed
gnomAD
COSM1621227
COSM1621228
COSM1621229
rs1175994839
1271 R>* Variant assessed as Somatic; HIGH impact. liver [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs757826120 1273 R>* No ExAC
gnomAD
rs1187113656 1273 R>L No gnomAD
rs1187113656 1273 R>Q No gnomAD
rs1448485038 1274 I>F No gnomAD
rs752203553 1275 A>P No ExAC
TOPMed
gnomAD
rs752203553 1275 A>S No ExAC
TOPMed
gnomAD
rs764686226 1276 A>T No ExAC
gnomAD
rs761198847 1277 N>D No ExAC
TOPMed
gnomAD
rs750983159 1277 N>S No ExAC
TOPMed
gnomAD
rs761198847 1277 N>Y No ExAC
TOPMed
gnomAD
rs767983765 1279 Y>C No ExAC
gnomAD
rs1344313006 1280 N>I No TOPMed
gnomAD
COSM3697693
COSM3697692
rs751899598
COSM3697691
1285 T>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1581894076 1287 S>R No Ensembl
rs763165837 1292 I>L No ExAC
gnomAD
rs763165837 1292 I>V No ExAC
gnomAD
TCGA novel 1293 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1410543711 1293 S>Y No gnomAD
rs775587225 1294 L>V No ExAC
gnomAD
rs1233703663 1297 I>M No TOPMed
rs1037611621 1298 F>S No Ensembl
TCGA novel 1299 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759678854 1303 V>L No ExAC
gnomAD
rs776517852 1305 Y>C No ExAC
gnomAD
COSM3921115
COSM3921116
COSM3921117
1306 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1273040881 1307 I>M No TOPMed
gnomAD
rs1283345614 1307 I>V No Ensembl
rs948560314 1309 S>C No Ensembl
rs746980328 1310 N>S No ExAC
TOPMed
gnomAD
rs1367580203 1311 I>V No gnomAD
TCGA novel 1314 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761557970 1317 E>D No ExAC
gnomAD
rs1748280803 1318 I>V No TOPMed
rs1277150364 1319 E>G No gnomAD
rs1346266279 1319 E>K No TOPMed
gnomAD
rs1346266279 1319 E>Q No TOPMed
gnomAD
rs748974986 1320 D>E No ExAC
gnomAD
rs2150303620 1320 D>N No Ensembl
rs1019753708 1321 R>Q No Ensembl
rs1760248796 1321 R>W No TOPMed
rs769438850 1323 T>M No ExAC
gnomAD
rs769438850 1323 T>R No ExAC
gnomAD
TCGA novel 1325 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774472191 1326 L>F No ExAC
TOPMed
gnomAD
rs774472191 1326 L>V No ExAC
TOPMed
gnomAD
rs1760246979 1327 L>M No TOPMed
TCGA novel 1328 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1404185087 1333 N>S No gnomAD
rs779282508 1334 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1300082220 1335 G>D No TOPMed
rs987952505 1337 S>A No gnomAD
rs1190314631 1339 G>E No gnomAD
rs1760244649 1339 G>R No TOPMed
rs545140596 1341 T>A No 1000Genomes
rs766435113 1341 T>M No ExAC
TOPMed
gnomAD
rs750346645 1342 Y>C No ExAC
gnomAD
rs1278410006 1343 I>T No gnomAD
rs1760242039 1346 Y>* No TOPMed
rs1347843766 1347 T>A No gnomAD
rs1347843766 1347 T>S No gnomAD
rs761835838 1347 T>S No ExAC
TOPMed
gnomAD
rs774244288 1348 R>* No ExAC
TOPMed
gnomAD
COSM1596151
COSM1596152
rs1339590903
COSM1076322
1348 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs762633563 1350 V>L No ExAC
gnomAD
rs762633563 1350 V>M No ExAC
gnomAD
rs769341668 1352 Q>H No ExAC
gnomAD
rs775338214 1352 Q>R No ExAC
TOPMed
gnomAD
rs1248252707 1353 V>M No TOPMed
rs1760239087 1355 N>D No Ensembl
rs1448365880 1355 N>I No TOPMed
rs1226851833 1356 I>N No gnomAD
COSM261655 1357 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1760237394 1358 S>G No Ensembl
rs772409670 1358 S>N No ExAC
gnomAD
rs1167569315 1359 L>F No gnomAD
rs1473287463 1359 L>P No gnomAD
rs748695121 1360 E>D No ExAC
TOPMed
gnomAD
COSM1442385
rs1322814372
COSM1442384
1361 R>Q large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1760236184 1361 R>W No 1000Genomes
gnomAD
rs1207661849 1363 R>Q No gnomAD
rs1253211513 1363 R>W No TOPMed
gnomAD
rs1760084844 1365 A>T No TOPMed
gnomAD
rs1275172590
COSM1311831
COSM4812447
COSM1311832
1366 V>I Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs748642534 1367 T>A No ExAC
TOPMed
gnomAD
rs1760083659 1369 K>* No gnomAD
rs774907074 1371 A>G No ExAC
gnomAD
TCGA novel 1371 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1461179076 1374 T>A No TOPMed
gnomAD
COSM4811058
COSM1133767
COSM420971
1375 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1760082424 1375 K>N No TOPMed
rs780492891 1377 R>G No ExAC
TOPMed
gnomAD
rs756255302 1377 R>Q No ExAC
TOPMed
gnomAD
rs780492891 1377 R>W No ExAC
TOPMed
gnomAD
rs746103151 1379 I>V No ExAC
TOPMed
gnomAD
rs757413284 1380 R>Q No ExAC
TOPMed
gnomAD
rs372857233 1380 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1760079371 1382 S>N No gnomAD
rs961422777 1384 S>C No Ensembl
COSM4877763
rs961422777
COSM4877762
COSM4877761
1384 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs751536244 1384 S>N No ExAC
TOPMed
gnomAD
rs1269454988 1385 T>I No TOPMed
gnomAD
rs764164486 1385 T>S No ExAC
gnomAD
rs1316227376 1386 P>L No gnomAD
rs752490875 1387 N>D No ExAC
gnomAD
TCGA novel 1387 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs368584415 1388 V>A No ESP
ExAC
TOPMed
gnomAD
rs1402813931 1388 V>I No TOPMed
rs1044421319 1389 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1044421319 1389 H>R No TOPMed
rs1391569000 1391 V>D No gnomAD
rs753403109 1391 V>F No ExAC
gnomAD
rs753403109 1391 V>I No ExAC
gnomAD
rs756978744 1393 S>F No Ensembl
rs900971113 1395 R>* No TOPMed
gnomAD
rs200901764 1395 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200833262 1396 P>L No ESP
ExAC
TOPMed
gnomAD
rs200833262 1396 P>Q No ESP
ExAC
TOPMed
gnomAD
rs767024112 1397 D>E No ExAC
TOPMed
gnomAD
rs1162974804 1398 L>V No TOPMed
gnomAD
rs1759824492 1399 S>F No TOPMed
rs763389412 1400 G>D No ExAC
gnomAD
rs1759824208 1400 G>S No Ensembl
rs569146131 1401 F>L No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1402 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs886653773 1403 E>D No TOPMed
gnomAD
rs770047708 1404 D>G No ExAC
gnomAD
rs1307176389 1405 D>V No gnomAD
rs1759678163 1408 W>* No Ensembl
rs1332254381 1408 W>R No TOPMed
gnomAD
rs866549736 1409 P>S No Ensembl
rs1433570518 1410 E>D No gnomAD
rs771426174 1412 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs140293391 1413 L>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140293391 1413 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773637052 1414 D>G No ExAC
gnomAD
COSM3623081
COSM3623082
COSM3623083
1414 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
VAR_029389
rs17689215
1415 M>V No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1259496367 1417 D>E No gnomAD
rs768601692 1418 Y>C No ExAC
TOPMed
gnomAD
rs866918817 1418 Y>H No gnomAD
rs2150295298 1420 S>F No Ensembl
rs1261076233 1422 Y>C No TOPMed
gnomAD
rs1759674605 1423 Q>H No Ensembl
rs779771179 1424 D>V No ExAC
TOPMed
gnomAD
rs373092082 1426 A>E No ESP
ExAC
TOPMed
gnomAD
rs755957437 1426 A>S No ExAC
TOPMed
gnomAD
rs373092082 1426 A>V No ESP
ExAC
TOPMed
gnomAD
rs1581869106 1428 Y>F No Ensembl
TCGA novel 1429 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751030387 1429 G>R No ExAC
TOPMed
gnomAD
rs1759672489 1430 T>I No TOPMed
gnomAD
rs1759671841 1431 L>F No TOPMed
gnomAD
rs763542054 1431 L>S No ExAC
TOPMed
gnomAD
rs755445981 1432 P>R No ExAC
gnomAD
COSM4813150
COSM1487490
COSM1487489
1433 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3860635
COSM3860636
COSM3860634
1433 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1452755139 1434 D>G No gnomAD
rs754313942 1436 P>S No ExAC
TOPMed
gnomAD
rs761162305 1437 R>* No ExAC
gnomAD
rs78281954 1437 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs78281954 1437 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1205057852 1439 N>I No gnomAD
rs1047635332 1440 K>E No Ensembl
rs1346376943 1441 E>A No gnomAD
rs761975221 1442 G>S No ExAC
gnomAD
rs1357219791 1443 C>Y No TOPMed
gnomAD
rs1311012993 1444 T>A No gnomAD
rs367994814 1447 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1448 P>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1313098182 1448 P>L No gnomAD
rs762033876 1448 P>S No ExAC
gnomAD
rs1467194992 1449 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1330691192 1451 L>V No gnomAD
rs569875205 1452 T>A No 1000Genomes
rs372447677 1453 V>F No ExAC
TOPMed
gnomAD
COSM1596153
COSM1596154
COSM1076317
rs372447677
1453 V>I Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1475583862 1454 S>G No TOPMed
gnomAD
rs775387752 1455 P>H No ExAC
gnomAD
rs775387752 1455 P>R No ExAC
gnomAD
rs769673178 1456 F>L No ExAC
gnomAD
rs1759537916 1456 F>S No TOPMed
rs1475189598 1458 A>V No TOPMed
gnomAD
rs1759537212 1460 S>A No TOPMed
rs182962682 1460 S>C No 1000Genomes
TOPMed
gnomAD
rs182962682 1460 S>F No 1000Genomes
TOPMed
gnomAD
rs1199398005 1461 P>S No TOPMed
gnomAD
rs1199398005 1461 P>T No TOPMed
gnomAD
rs1175300473 1464 P>Q No gnomAD
rs776345807 1464 P>S No ExAC
gnomAD
rs1430301170 1465 K>E No TOPMed
gnomAD
rs770646228 1468 K>Q No ExAC
gnomAD
rs746659694 1469 P>S No ExAC
gnomAD
rs2150293010 1470 L>P No Ensembl
rs201979416 1471 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs559728824 1473 V>I No 1000Genomes
TOPMed
rs534596564 1476 E>D No ExAC
gnomAD
rs747611407 1477 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs778595043 1478 K>R No ExAC
TOPMed
gnomAD
rs1759532754 1483 L>P No TOPMed
rs1447468499 1485 A>E No TOPMed
gnomAD
rs1447468499 1485 A>V No TOPMed
gnomAD
rs375333105 1486 R>T No ESP
TOPMed
gnomAD
rs1281025424 1487 P>H No gnomAD
rs1377517558 1487 P>S No TOPMed
gnomAD
COSM3623070
COSM3623071
COSM3623069
1488 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756620344 1488 L>P No ExAC
gnomAD
rs756620344 1488 L>R No ExAC
gnomAD
rs868522948 1490 S>C No Ensembl
rs1759530842 1491 Q>R No gnomAD
rs1051708893 1493 S>G No TOPMed
gnomAD
rs781594811 1495 P>L No ExAC
TOPMed
gnomAD
rs757622676 1496 P>L No ExAC
gnomAD
rs751824702 1497 P>L No ExAC
TOPMed
gnomAD
rs751824702 1497 P>R No ExAC
TOPMed
gnomAD
COSM1311829
COSM1311830
rs1759465050
1498 Q>E Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1279484894 1498 Q>R No TOPMed
gnomAD
rs778234437 1499 A>E No ExAC
TOPMed
gnomAD
rs778234437 1499 A>V No ExAC
TOPMed
gnomAD
rs758551418 1500 H>R No ExAC
gnomAD
rs1362747960 1501 N>K No TOPMed
gnomAD
rs1581861580 1501 N>T No Ensembl
rs765288895 1504 C>F No ExAC
gnomAD
rs766177992 1505 I>T No ExAC
gnomAD
rs753791221 1505 I>V No ExAC
gnomAD
rs537340041 1507 P>A No 1000Genomes
ExAC
gnomAD
rs537340041 1507 P>S No 1000Genomes
ExAC
gnomAD
rs756267833 1509 G>E No Ensembl
rs1759461700 1509 G>R No gnomAD
rs142518339 1510 S>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs772004378 1511 N>K No ExAC
gnomAD
rs1420999888 1513 S>G No TOPMed
gnomAD
rs776177971 1513 S>N No Ensembl
rs1561950826 1514 S>I No TOPMed
gnomAD
rs1561950826 1514 S>N No TOPMed
gnomAD
rs868120397 1515 M>I No TOPMed
rs761540530 1515 M>V No ExAC
gnomAD
rs1581861305 1516 P>A No Ensembl
rs774209178 1517 V>I No ExAC
gnomAD
rs774209178 1517 V>L No ExAC
gnomAD
rs931897567 1519 H>Y No TOPMed
rs768253903 1520 N>S No ExAC
TOPMed
gnomAD
rs374548485 1521 S>N No ESP
ExAC
TOPMed
gnomAD
COSM282219
rs989994318
1523 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs565980274 1523 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1581861147 1524 E>K No Ensembl
rs777943369 1525 K>N No ExAC
TOPMed
gnomAD
rs984023682 1526 K>R No TOPMed
gnomAD
rs1561950741 1527 I>V No Ensembl
rs752024775 1528 D>E No ExAC
gnomAD
rs747459627 1528 D>G No ExAC
gnomAD
rs747459627 1528 D>V No ExAC
gnomAD
rs1296997380 1528 D>Y No Ensembl
rs772395057 1530 E>* No ExAC
TOPMed
gnomAD
rs772395057 1530 E>Q No ExAC
TOPMed
gnomAD
rs748462859 1532 E>D No ExAC
gnomAD
rs1758809178 1534 N>S No TOPMed
rs1305323943 1535 E>G No TOPMed
gnomAD
rs897163028 1539 I>V No Ensembl
rs779280594 1541 R>K No ExAC
gnomAD
COSM261654 1541 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1044961267 1542 K>R No TOPMed
gnomAD
rs1044961267 1542 K>T No TOPMed
gnomAD
rs1420668773 1543 L>I No gnomAD
rs373629019 1544 I>M No ESP
TOPMed
gnomAD
rs749536928 1544 I>V No ExAC
gnomAD
rs1208591821 1545 S>T No TOPMed
TCGA novel 1546 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1758806128 1547 Q>L No Ensembl
rs1254178585 1548 P>L No gnomAD
rs1265089488 1551 P>A No TOPMed
gnomAD
rs1265089488 1551 P>S No TOPMed
gnomAD
rs1265089488 1551 P>T No TOPMed
gnomAD
rs1480994008 1552 V>M No gnomAD
rs1758804650 1553 E>G No Ensembl
rs370868446 1553 E>K No ESP
ExAC
TOPMed
gnomAD
rs370868446 1553 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1419066877 1557 F>L No TOPMed
rs756281554 1557 F>S No ExAC
TOPMed
gnomAD
rs1265381064 1561 N>D No gnomAD
rs767615649 1561 N>S No ExAC
TOPMed
gnomAD
rs757287995 1564 L>S No ExAC
TOPMed
gnomAD
rs909114227 1565 E>K No Ensembl
rs1172267769 1567 R>S No TOPMed
gnomAD
rs988030455 1568 E>K No TOPMed
gnomAD
rs991309411 1569 W>* No Ensembl
rs1758799603 1570 F>* No TOPMed
gnomAD
rs751362648 1570 F>V No ExAC
gnomAD
TCGA novel 1571 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1581840298 1572 S>A No Ensembl
rs1758799066 1572 S>F No Ensembl
rs1758798757 1574 V>A No Ensembl
rs1758798473 1575 D>N No Ensembl
rs1445557288 1576 L>V No gnomAD
rs1371309973 1578 N>D No gnomAD
rs1758796898 1580 R>Q No TOPMed
gnomAD
rs201753966 1580 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762457372 1581 V>I No ExAC
TOPMed
gnomAD
rs1442514320 1582 L>S No TOPMed
gnomAD
rs1455344325 1583 E>K No TOPMed
gnomAD
rs1758795941 1584 K>E No TOPMed
rs775273707 1585 E>A No ExAC
TOPMed
gnomAD
rs775273707 1585 E>G No ExAC
TOPMed
gnomAD
rs530891053 1586 V>A No 1000Genomes
ExAC
gnomAD
rs759127355 1586 V>M No ExAC
TOPMed
gnomAD
rs377613904 1588 R>C No ESP
ExAC
TOPMed
gnomAD
COSM4942710
rs184686655
COSM4942711
COSM4942709
1588 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1485000035 1589 S>N No Ensembl
rs1487166736 1591 T>I No TOPMed
gnomAD
rs1758793480 1592 T>I No TOPMed
rs967495966 1593 S>I No Ensembl
rs780359848 1598 G>D No ExAC
TOPMed
gnomAD
rs780359848 1598 G>V No ExAC
TOPMed
gnomAD
rs745897585 1599 Y>* No ExAC
TOPMed
gnomAD
rs12211658
VAR_049699
1600 F>S No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1758792125 1600 F>V No Ensembl
rs757196364 1601 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1758791662 1601 S>P No Ensembl
rs758282538 1602 H>L No ExAC
gnomAD
rs758282538 1602 H>P No ExAC
gnomAD
rs752260591 1602 H>Q No ExAC
rs1758790451 1603 S>R No gnomAD
rs1297281131 1606 N>H No TOPMed
gnomAD
rs369581592 1606 N>S No ESP
ExAC
TOPMed
gnomAD
rs1758789485 1608 T>A No TOPMed
gnomAD
rs201648357 1608 T>N No ESP
ExAC
TOPMed
gnomAD
rs765885011 1609 L>M No ExAC
gnomAD
rs765885011 1609 L>V No ExAC
gnomAD
rs1343761626 1612 M>L No TOPMed
gnomAD
rs768868179 1612 M>R No ExAC
TOPMed
gnomAD
rs768868179 1612 M>T No ExAC
TOPMed
gnomAD
rs891298408 1613 V>A No Ensembl
rs763420555 1613 V>L No ExAC
gnomAD
rs1581839759 1614 V>G No Ensembl
rs1282997735 1615 P>T No gnomAD
COSM6173579
COSM6173580
COSM6173578
1616 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1343879993 1617 S>C No TOPMed
gnomAD
rs770021543 1617 S>R No ExAC
gnomAD
rs1343879993 1617 S>R No TOPMed
gnomAD
rs1758785253 1619 S>N No gnomAD
rs1758785069 1620 S>* No TOPMed
TCGA novel 1620 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs41267712
RCV000885252
1621 D>E No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1228979076 1621 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1277467697 1622 Q>* No gnomAD
rs1277467697 1622 Q>E No gnomAD
rs781366500 1623 L>P No ExAC
gnomAD
rs1281928299 1624 A>V No TOPMed
rs771194983 1625 I>V No ExAC
gnomAD
rs1310895032 1626 Q>H No TOPMed
gnomAD
rs541281370 1627 T>M No 1000Genomes
ExAC
gnomAD
rs541281370 1627 T>R No 1000Genomes
ExAC
gnomAD
rs1758782431 1628 K>E No TOPMed
gnomAD
rs1758781781 1631 D>H No Ensembl
rs1440441635 1632 S>F No gnomAD
rs1476442640 1633 T>I No gnomAD
rs1476442640 1633 T>N No gnomAD
rs1406256146 1634 E>D No TOPMed
rs754599022 1634 E>G No ExAC
TOPMed
gnomAD
rs778577385 1634 E>K No ExAC
gnomAD
rs1260024724 1635 H>D No TOPMed
gnomAD
rs1260024724 1635 H>Y No TOPMed
gnomAD
rs543574521 1636 S>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs543574521 1636 S>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs760216131 1638 P>L No ExAC
TOPMed
gnomAD
COSM1596156
COSM1076315
COSM1596155
rs1273285610
1639 S>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs764608480 1640 L>F No ExAC
rs199734807 1640 L>P No 1000Genomes
ExAC
gnomAD
rs1256909832 1642 H>P No TOPMed
gnomAD
TCGA novel 1644 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1645 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765535914 1646 P>L No ExAC
TOPMed
gnomAD
rs1291170687 1647 S>F No gnomAD
rs1239283315 1648 S>L No gnomAD
rs201057801 1649 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771105332 1650 K>E No ExAC
TOPMed
gnomAD
rs1329780094 1650 K>T No TOPMed
gnomAD
rs1208245848 1651 E>A No TOPMed
gnomAD
rs747135197 1653 T>I No ExAC
TOPMed
gnomAD
rs1758774990 1654 E>K No Ensembl
rs1204445362 1655 V>I No TOPMed
gnomAD
rs1758773996 1656 E>G No Ensembl
rs41267710 1656 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1758773996 1656 E>V No Ensembl
rs1161765004 1657 K>Q No TOPMed
gnomAD
rs374013859 1658 G>A No ESP
ExAC
TOPMed
gnomAD
rs374013859 1658 G>D No ESP
ExAC
TOPMed
gnomAD
rs374013859 1658 G>V No ESP
ExAC
TOPMed
gnomAD
rs1183493987 1661 K>T No gnomAD
rs777530318 1662 D>G No Ensembl
rs1474040160 1663 K>Q No TOPMed
gnomAD
rs1169239313 1664 I>L No TOPMed
rs1758771826 1664 I>M No TOPMed
rs1758771376 1667 V>M No TOPMed
rs1758770970 1668 P>L No Ensembl
COSM3860631
COSM3860632
COSM3860633
rs1384933070
1669 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs910852221 1670 K>R No Ensembl
rs985719006 1673 S>N No gnomAD
rs1326835041 1673 S>R No TOPMed
rs1758769358 1673 S>R No TOPMed
rs985719006 1673 S>T No gnomAD
TCGA novel 1674 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755781422 1676 A>P No ExAC
TOPMed
gnomAD
rs755781422 1676 A>T No ExAC
TOPMed
gnomAD
rs1312082314 1676 A>V No TOPMed
TCGA novel 1678 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3860628
COSM3860630
COSM3860629
1679 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1281111784 1680 P>A No gnomAD
COSM3393988
COSM3393989
COSM3393987
rs374088011
1680 P>L pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs567547421 1682 S>C No 1000Genomes
TOPMed
gnomAD
rs567547421 1682 S>F No 1000Genomes
TOPMed
gnomAD
rs867394754 1684 S>G No gnomAD
rs1441751005 1685 I>F No gnomAD
rs753204968 1686 P>L No ExAC
gnomAD
rs1758766056 1688 K>E No Ensembl
rs1437391549 1691 K>R No TOPMed
gnomAD
rs1437391549 1691 K>T No TOPMed
gnomAD
rs1273167863 1693 L>P No TOPMed
gnomAD
rs766660123 1697 G>D No ExAC
TOPMed
gnomAD
rs766660123 1697 G>V No ExAC
TOPMed
gnomAD
rs773284985 1698 S>L No ExAC
gnomAD
TCGA novel 1698 S>Y Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1286029834 1699 C>R No TOPMed
gnomAD
rs772099608 1700 S>L No ExAC
gnomAD
COSM1650574
COSM595297
COSM1144118
1701 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1308784030 1703 D>G No TOPMed
gnomAD
rs1758762008 1703 D>H No TOPMed
rs1758761358 1704 A>T No Ensembl
rs774191820 1705 C>R No ExAC
TOPMed
rs1758760702 1705 C>Y No TOPMed
rs1235384224 1706 P>H No gnomAD
rs1758760394 1706 P>T No Ensembl
TCGA novel 1707 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1378782668 1709 I>M No gnomAD
rs1291909729 1710 S>I No TOPMed
gnomAD
rs1291909729 1710 S>N No TOPMed
gnomAD
rs749029069 1710 S>R No ExAC
TOPMed
gnomAD
rs1758758538 1714 R>T No TOPMed
rs2150281432 1715 G>* No Ensembl
rs755699796 1717 C>R No ExAC
gnomAD
rs1758756946 1718 P>R No Ensembl
rs780742333 1722 T>K No ExAC
TOPMed
gnomAD
rs780742333 1722 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1758756045 1723 V>L No gnomAD
rs1758755619 1724 E>D No gnomAD
rs1758755820 1724 E>K No TOPMed
gnomAD
TCGA novel 1725 H>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369011113 1727 T>A No ESP
ExAC
TOPMed
gnomAD
rs199705906 1727 T>I No ESP
ExAC
TOPMed
gnomAD
rs766863284 1728 N>D No ExAC
TOPMed
gnomAD
rs1758754529 1728 N>T No TOPMed
rs1373396594 1729 I>S No Ensembl
rs1214430412 1731 E>G No TOPMed
gnomAD
rs2150281375 1731 E>Q No Ensembl
rs1487835075 1732 D>A No gnomAD
rs1487835075 1732 D>G No gnomAD
rs750676792 1734 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs761844305 1735 F>L No ExAC
gnomAD
rs1216931794 1736 T>A No TOPMed
gnomAD
TCGA novel 1736 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774507101 1737 E>G No ExAC
TOPMed
gnomAD
rs1489030576 1740 G>A No TOPMed
gnomAD
rs1023461761 1740 G>R No TOPMed
gnomAD
rs575520875 1741 V>L No TOPMed
gnomAD
rs575520875 1741 V>M No TOPMed
gnomAD
rs189438984 1742 S>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1327225774 1742 S>P No TOPMed
TCGA novel 1743 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1436146284 1746 D>N No gnomAD
rs1436146284 1746 D>Y No gnomAD
TCGA novel 1747 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200658625 1747 F>Y No Ensembl
rs867622242 1749 G>A No TOPMed
rs867622242 1749 G>D No TOPMed
rs375235800 1749 G>S No ESP
rs745533373 1751 T>A No ExAC
gnomAD
rs371892687 1751 T>I No ESP
ExAC
TOPMed
gnomAD
COSM3860623
COSM3860624
COSM3860622
1752 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150281280 1753 S>Y No Ensembl
rs2150281275 1754 S>A No Ensembl
rs746457444 1756 G>A No ExAC
gnomAD
rs746457444 1756 G>E No ExAC
gnomAD
rs200385751 1757 E>D No ESP
ExAC
TOPMed
gnomAD
rs777457626 1757 E>G No ExAC
gnomAD
TCGA novel 1757 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs890421022 1759 S>C No TOPMed
rs1189836947 1760 S>I No gnomAD
rs1484320249 1762 R>K No gnomAD
rs1254500237 1762 R>S No gnomAD
rs1209753964 1763 S>R No gnomAD
rs374594635 1765 P>A No ESP
TOPMed
rs201854187 1765 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201854187 1765 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756474302 1767 K>N No ExAC
gnomAD
rs750632162 1769 G>C No ExAC
gnomAD
rs750632162 1769 G>S No ExAC
gnomAD
rs73721713 1770 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764175933 1771 K>N No ExAC
gnomAD
rs762867292 1772 T>A No ExAC
gnomAD
rs762867292 1772 T>S No ExAC
gnomAD
rs1193004215 1773 V>L No gnomAD
rs370748706 1775 D>H No ESP
ExAC
TOPMed
gnomAD
rs370748706 1775 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1758742043 1775 D>V No TOPMed
gnomAD
rs1455199739 1776 G>E No TOPMed
gnomAD
rs1418489603 1776 G>R No gnomAD
COSM6106247
COSM6106248
COSM6106246
1778 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1758741213 1778 H>R No TOPMed
rs1758740791 1779 H>R No TOPMed
rs1045600266 1780 P>L No TOPMed
gnomAD
rs1758740545 1780 P>S No TOPMed
gnomAD
rs1758740545 1780 P>T No TOPMed
gnomAD
rs759299890 1781 S>N No ExAC
gnomAD
rs1318722581 1782 Q>H No gnomAD
rs1400367407 1782 Q>R No TOPMed
rs770452075 1785 S>F No ExAC
gnomAD
rs1481110315 1785 S>P No TOPMed
gnomAD
rs777406906 1787 L>S No ExAC
gnomAD
rs746679833 1787 L>V No ExAC
TOPMed
gnomAD
rs1303395967 1788 E>* No TOPMed
gnomAD
rs200447171 1788 E>D No ESP
ExAC
TOPMed
gnomAD
rs1320255937 1791 Q>P No TOPMed
gnomAD
rs1320255937 1791 Q>R No TOPMed
gnomAD
rs1758736901 1793 I>M No gnomAD
rs749780350 1793 I>V No ExAC
gnomAD
rs1241749514 1795 P>T No TOPMed
rs2150281042 1796 E>D No Ensembl
rs780755258 1797 A>T No ExAC
rs938940904 1797 A>V No TOPMed
gnomAD
rs1758735631 1798 A>P No Ensembl
COSM4925802
COSM4925803
1798 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1445418822 1798 A>V No gnomAD
rs202230300 1800 W>* No ExAC
gnomAD
rs750709636 1800 W>* No ExAC
gnomAD
rs1758734716 1801 V>F No TOPMed
rs1758734716 1801 V>I No TOPMed
rs370967470 1802 L>P No ESP
ExAC
TOPMed
gnomAD
rs1212497603 1803 C>Y No TOPMed
gnomAD
COSM3928245
COSM3928244
1805 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic

No associated diseases with Q9H1H9

8 regional properties for Q9H1H9

Type Name Position InterPro Accession
domain Zinc finger, RING-type 138 - 189 IPR001841-1
domain Zinc finger, RING-type 299 - 339 IPR001841-2
domain IBR domain 207 - 269 IPR002867-1
domain IBR domain 277 - 339 IPR002867-2
domain TRIAD supradomain 134 - 343 IPR044066
domain Ariadne domain 352 - 469 IPR045840
domain E3 ubiquitin-protein ligase ARIH2, BRcat domain 216 - 287 IPR047555
domain E3 ubiquitin-protein ligase TRIAD1, Rcat domain 291 - 346 IPR047556

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Midbody
  • Endosome membrane
  • Golgi apparatus membrane
  • Recruited to the midbody during cytokinesis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
centriole A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
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.
endosome membrane The lipid bilayer surrounding an endosome.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
kinesin complex Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
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.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.

11 GO annotations of biological process

Name Definition
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.
endosome to lysosome transport The directed movement of substances from endosomes to lysosomes.
Golgi to plasma membrane protein transport The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
melanosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored.
microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
plus-end-directed vesicle transport along microtubule The directed movement of a vesicle towards the plus end of a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination.
regulation of cytokinesis Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
spindle assembly The aggregation, arrangement and bonding together of a set of components to form the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart.
vesicle cargo loading The formation of a macromolecular complex between the coat proteins and proteins and/or lipoproteins that are going to be transported by a vesicle.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P33176 KIF5B Kinesin-1 heavy chain Homo sapiens (Human) EV
O60282 KIF5C Kinesin heavy chain isoform 5C Homo sapiens (Human) EV
Q12840 KIF5A Kinesin heavy chain isoform 5A Homo sapiens (Human) EV
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
Q86VH2 KIF27 Kinesin-like protein KIF27 Homo sapiens (Human) SS
Q7Z4S6 KIF21A Kinesin-like protein KIF21A Homo sapiens (Human) EV
O75037 KIF21B Kinesin-like protein KIF21B Homo sapiens (Human) EV
Q9P2E2 KIF17 Kinesin-like protein KIF17 Homo sapiens (Human) EV
O00139 KIF2A Kinesin-like protein KIF2A Homo sapiens (Human) PR
Q9NQT8 KIF13B Kinesin-like protein KIF13B Homo sapiens (Human) EV
O43896 KIF1C Kinesin-like protein KIF1C Homo sapiens (Human) SS
Q9EQW7 Kif13a Kinesin-like protein KIF13A Mus musculus (Mouse) SS
Q70AM4 Kif13b Kinesin 13B Rattus norvegicus (Rat) EV
10 20 30 40 50 60
MSDTKVKVAV RVRPMNRREL ELNTKCVVEM EGNQTVLHPP PSNTKQGERK PPKVFAFDYC
70 80 90 100 110 120
FWSMDESNTT KYAGQEVVFK CLGEGILEKA FQGYNACIFA YGQTGSGKSF SMMGHAEQLG
130 140 150 160 170 180
LIPRLCCALF KRISLEQNES QTFKVEVSYM EIYNEKVRDL LDPKGSRQSL KVREHKVLGP
190 200 210 220 230 240
YVDGLSQLAV TSFEDIESLM SEGNKSRTVA ATNMNEESSR SHAVFNIIIT QTLYDLQSGN
250 260 270 280 290 300
SGEKVSKVSL VDLAGSERVS KTGAAGERLK EGSNINKSLT TLGLVISSLA DQAAGKGKSK
310 320 330 340 350 360
FVPYRDSVLT WLLKDNLGGN SQTSMIATIS PAADNYEETL STLRYADRAK RIVNHAVVNE
370 380 390 400 410 420
DPNAKVIREL REEVEKLREQ LSQAEAMKAP ELKEKLEESE KLIKELTVTW EEKLRKTEEI
430 440 450 460 470 480
AQERQRQLES MGISLEMSGI KVGDDKCYLV NLNADPALNE LLVYYLKDHT RVGADTSQDI
490 500 510 520 530 540
QLFGIGIQPQ HCEIDIASDG DVTLTPKENA RSCVNGTLVC STTQLWHGDR ILWGNNHFFR
550 560 570 580 590 600
INLPKRKRRD WLKDFEKETG PPEHDLDAAS EASSEPDYNY EFAQMEVIMK TLNSNDPVQN
610 620 630 640 650 660
VVQVLEKQYL EEKRSALEEQ RLMYERELEQ LRQQLSPDRQ PQSSGPDRLA YSSQTAQQKV
670 680 690 700 710 720
TQWAEERDEL FRQSLAKLRE QLVKANTLVR EANFLAEEMS KLTDYQVTLQ IPAANLSANR
730 740 750 760 770 780
KRGAIVSEPA IQVRRKGKST QVWTIEKLEN KLIDMRDLYQ EWKEKVPEAK RLYGKRGDPF
790 800 810 820 830 840
YEAQENHNLI GVANVFLECL FCDVKLQYAV PIISQQGEVA GRLHVEVMRV TGAVPERVVE
850 860 870 880 890 900
DDSSENSSES GSLEVVDSSG EIIHRVKKLT CRVKIKEATG LPLNLSNFVF CQYTFWDQCE
910 920 930 940 950 960
STVAAPVVDP EVPSPQSKDA QYTVTFSHCK DYVVNVTEEF LEFISDGALA IEVWGHRCAG
970 980 990 1000 1010 1020
NGSSIWEVDS LHAKTRTLHD RWNEVTRRIE MWISILELNE LGEYAAVELH QAKDVNTGGI
1030 1040 1050 1060 1070 1080
FQLRQGHSRR VQVTVKPVQH SGTLPLMVEA ILSVSIGCVT ARSTKLQRGL DSYQRDDEDG
1090 1100 1110 1120 1130 1140
DDMDSYQEED LNCVRERWSD ALIKRREYLD EQIKKVSNKT EKTEDDVERE AQLVEQWVGL
1150 1160 1170 1180 1190 1200
TEERNAVLVP APGSGIPGAP ADWIPPPGME THIPVLFLDL NADDLSANEQ LVGPHASGVN
1210 1220 1230 1240 1250 1260
SILPKEHGSQ FFYLPIIKHS DDEVSATASW DSSVHDSVHL NRVTPQNERI YLIVKTTVQL
1270 1280 1290 1300 1310 1320
SHPAAMELVL RKRIAANIYN KQSFTQSLKR RISLKNIFYS CGVTYEIVSN IPKATEEIED
1330 1340 1350 1360 1370 1380
RETLALLAAR SENEGTSDGE TYIEKYTRGV LQVENILSLE RLRQAVTVKE ALSTKARHIR
1390 1400 1410 1420 1430 1440
RSLSTPNVHN VSSSRPDLSG FDEDDKGWPE NQLDMSDYSS SYQDVACYGT LPRDSPRRNK
1450 1460 1470 1480 1490 1500
EGCTSETPHA LTVSPFKAFS PQPPKFFKPL MPVKEEHKKR IALEARPLLS QESMPPPQAH
1510 1520 1530 1540 1550 1560
NPGCIVPSGS NGSSMPVEHN SKREKKIDSE EEENELEAIN RKLISSQPYV PVEFADFSVY
1570 1580 1590 1600 1610 1620
NASLENREWF SSKVDLSNSR VLEKEVSRSP TTSSITSGYF SHSASNATLS DMVVPSSDSS
1630 1640 1650 1660 1670 1680
DQLAIQTKDA DSTEHSTPSL VHDFRPSSNK ELTEVEKGLV KDKIIVVPLK ENSALAKGSP
1690 1700 1710 1720 1730 1740
SSQSIPEKNS KSLCRTGSCS ELDACPSKIS QPARGFCPRE VTVEHTTNIL EDHSFTEFMG
1750 1760 1770 1780 1790 1800
VSEGKDFDGL TDSSAGELSS RRSLPNKTGG KTVSDGLHHP SQLHSKLEND QVIIPEAAFW
VLCCQ