Descriptions

Dbl-family GEFs are the major class of exchange factors for Rho GTPases. The Dbl-family GEF p63RhoGEF, called ARHGEF25, is a mediator of Gαq/11 signaling to RhoA based on its ability to synergize with Gαq/11 resulting in enhanced RhoA signaling. Activated Gαq directly engages and stimulates ARHGEF25. Basically, ARHGEF25 is autoinhibited by the Dbl homology (DH)-associated pleckstrin homology (PH) domain. Activated Gαq relieves this autoinhibition by interacting with a highly conserved C-terminal extension of the PH domain.

Autoinhibitory domains (AIDs)

Target domain

1924-2115 (DH domain)

Relief mechanism

Partner binding

Assay

Accessory elements

2823-2845 (Activation loop from InterPro)

Target domain

2684-2938 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

13 structures for O60229

Entry ID Method Resolution Chain Position Source
5QQD X-ray 191 A B 1280-1459 PDB
5QQE X-ray 195 A B 1280-1459 PDB
5QQF X-ray 226 A B 1280-1459 PDB
5QQG X-ray 223 A B 1280-1459 PDB
5QQH X-ray 209 A B 1280-1459 PDB
5QQI X-ray 208 A B 1280-1459 PDB
5QQJ X-ray 190 A B 1280-1459 PDB
5QQK X-ray 224 A B 1280-1459 PDB
5QQL X-ray 225 A B 1280-1459 PDB
5QQM X-ray 202 A B 1280-1459 PDB
5QQN X-ray 226 A B 1280-1459 PDB
5QU9 X-ray 200 A B 1280-1459 PDB
8C7D X-ray 186 A A 1916-2114 PDB

2672 variants for O60229

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM1037456
COSM1037454
RCV001262907
rs145790621
724 S>L endometrium Coronary heart disease, susceptibility to, 5 [Cosmic, ClinVar] Yes cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1242888757 2 T>M No gnomAD
rs774343717 3 D>G No ExAC
gnomAD
rs1162252325 4 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1162252325 4 R>G No TOPMed
gnomAD
rs1200030011 4 R>H No TOPMed
gnomAD
rs767942900 6 W>R No Ensembl
rs1369842479 6 W>S No gnomAD
rs1577991471 7 D>G No Ensembl
rs2061334555 7 D>N No Ensembl
rs2149384118 8 Q>E No Ensembl
rs761715314 8 Q>H No ExAC
TOPMed
gnomAD
rs1428228013 8 Q>R No Ensembl
rs1211194969 9 W>* No Ensembl
rs2061335415 10 Y>H No gnomAD
rs1465719025 11 L>F No TOPMed
gnomAD
rs1465719025 11 L>V No TOPMed
gnomAD
rs1005426222 12 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs2061336006 13 Y>C No Ensembl
rs767031719 15 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1306357826 18 R>Q No gnomAD
rs375111358 18 R>W No ESP
gnomAD
rs1467089799 19 L>Q No gnomAD
rs1381756344 20 L>P No gnomAD
COSM3391998
COSM3391999
22 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753159455 22 R>L No ExAC
gnomAD
rs753159455 22 R>Q No ExAC
gnomAD
rs1259546679 23 G>R No TOPMed
gnomAD
rs1560290554 24 S>A No gnomAD
rs780167418 24 S>C No ExAC
TOPMed
gnomAD
COSM1037401
COSM1037399
24 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3846051
COSM3846050
25 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754069791
COSM4112935
COSM4112936
26 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3586549
COSM3586550
26 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs992756679 27 N>S No Ensembl
rs1279597047 29 G>D No gnomAD
rs755195866 29 G>R No ExAC
gnomAD
rs779217003 31 K>E No ExAC
gnomAD
rs2078761471 32 A>T No TOPMed
rs992794173 35 V>I No TOPMed
rs769492450 37 P>R No Ensembl
rs777847805 38 I>V No ExAC
TOPMed
gnomAD
COSM3586552
COSM3586551
41 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2078762952 41 E>Q No TOPMed
rs1043150761 44 A>V No TOPMed
gnomAD
rs926123706 46 V>L No TOPMed
gnomAD
rs926123706 46 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2079561892 49 G>S No Ensembl
COSM5525117
COSM5525116
50 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs530848505 50 R>H No Ensembl
rs1411312460 51 D>H No TOPMed
rs781215006 53 R>Q No ExAC
gnomAD
rs2079563022 55 G>R No gnomAD
rs2079563381 56 P>S No TOPMed
rs573227442 57 I>V No 1000Genomes
gnomAD
rs1190359315 61 P>L No TOPMed
rs1283177292 61 P>S No gnomAD
rs769353974
COSM3914774
COSM3914775
63 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775004208 63 R>H No ExAC
TOPMed
gnomAD
rs775004208 63 R>L No ExAC
TOPMed
gnomAD
rs2148579012 65 N>S No Ensembl
rs1316809493 68 R>G No TOPMed
gnomAD
rs2079566226 69 I>R No Ensembl
TCGA novel 69 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs370661492 69 I>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 70 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1227140076 73 D>E No TOPMed
rs772405317 73 D>N No ExAC
gnomAD
rs1235896186 74 L>V No gnomAD
rs978430945 75 R>Q No TOPMed
gnomAD
rs144465315 75 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777198177 78 V>M No ExAC
TOPMed
gnomAD
rs759529176 79 T>M No ExAC
TOPMed
gnomAD
rs758731038 82 A>V No ExAC
gnomAD
rs1449739109 83 S>R No gnomAD
rs574386011 83 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs751354420 84 V>M No ExAC
gnomAD
rs2079570141 85 P>L No gnomAD
rs1020279770 86 S>N No TOPMed
rs1160137462
COSM203195
COSM203194
89 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs898030291
COSM1291590
COSM1291589
92 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
TOPMed
gnomAD
COSM445464
rs377636182
COSM445465
92 R>H Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765392431 93 G>S No Ensembl
rs1481079723 95 T>A No Ensembl
rs142301867 98 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2073283262 100 M>T No Ensembl
rs2073283729 101 R>Q No TOPMed
rs1220317537 101 R>W No TOPMed
gnomAD
rs371306814 102 G>A No ESP
ExAC
gnomAD
COSM1037410
COSM1037408
102 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371306814 102 G>D No ESP
ExAC
gnomAD
rs371306814 102 G>V No ESP
ExAC
gnomAD
rs1580234569 106 D>A No Ensembl
rs371412369 110 P>L No ESP
TOPMed
rs754488298 110 P>S No ExAC
rs754488298 110 P>T No ExAC
rs778530203 111 L>I No ExAC
gnomAD
rs750456225
COSM1418469
COSM1418468
114 T>M lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 114 T>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs901620253 124 H>R No Ensembl
rs746245547 124 H>Y No ExAC
gnomAD
rs1178611748 125 V>A No gnomAD
rs2073288809 125 V>L No Ensembl
rs1236708306 127 L>P No gnomAD
rs1180122748 132 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
TCGA novel 134 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763062554 135 W>* No ExAC
gnomAD
TCGA novel 135 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774706026 141 N>T No ExAC
TOPMed
gnomAD
rs1391658619 143 G>S No Ensembl
rs762145667 146 K>R No ExAC
gnomAD
rs2073293089 148 I>T No Ensembl
rs767185496 148 I>V No ExAC
gnomAD
rs774614237 151 T>A No ExAC
gnomAD
rs565525175 151 T>K No 1000Genomes
TOPMed
gnomAD
rs565525175 151 T>M No 1000Genomes
TOPMed
gnomAD
rs565525175 151 T>R No 1000Genomes
TOPMed
gnomAD
rs774614237 151 T>S No ExAC
gnomAD
rs2073849607 153 M>R No Ensembl
rs2073849386 153 M>V No TOPMed
rs1334297228 154 V>I No TOPMed
gnomAD
rs1334297228 154 V>L No TOPMed
gnomAD
rs773320991 156 V>M No ExAC
gnomAD
rs1356176088 158 G>S No gnomAD
rs760513110 160 T>K No ExAC
TOPMed
gnomAD
TCGA novel 160 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1360520595 165 P>H No TOPMed
gnomAD
rs1360520595 165 P>L No TOPMed
gnomAD
rs2073851710 165 P>S No Ensembl
TCGA novel 166 S>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 169 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073853237 172 F>L No TOPMed
TCGA novel 177 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073854004 179 N>H No Ensembl
rs1215782059 179 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1257842203 181 E>K No gnomAD
COSM419871 181 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763739407 182 E>D No ExAC
gnomAD
rs2073855110 182 E>G No Ensembl
rs151088783 182 E>K No ESP
ExAC
gnomAD
rs2073855622 184 I>F No TOPMed
rs751239598 184 I>T No ExAC
gnomAD
COSM3057466
rs546138856
COSM3057467
185 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1016340742 187 R>Q No Ensembl
rs749782159 187 R>W No ExAC
gnomAD
TCGA novel 188 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs963435305 189 S>A No gnomAD
COSM3586558
COSM3586557
189 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM203197
COSM203196
193 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1304743134 195 N>D No TOPMed
gnomAD
rs2148922485 195 N>S No Ensembl
VAR_041898 196 S>L No UniProt
rs199923777 196 S>R No ESP
ExAC
TOPMed
gnomAD
rs748202694 197 A>S No ExAC
TOPMed
gnomAD
rs748202694 197 A>T No ExAC
TOPMed
gnomAD
COSM6095931
COSM6095932
198 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073859417
COSM1037414
COSM1037412
198 V>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs2073859820 199 H>R No Ensembl
COSM4112939
COSM4112940
201 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747243242 202 S>L No ExAC
TOPMed
gnomAD
COSM1582553
rs776366541
COSM1582552
203 R>C stomach [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs776366541 203 R>G No ExAC
TOPMed
gnomAD
rs1235906165 203 R>H No gnomAD
TCGA novel
rs2073861636
205 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs868144047 207 L>F No TOPMed
rs775290866 208 Q>R No ExAC
gnomAD
rs371783045 210 M>I No ESP
TOPMed
gnomAD
rs369521014 210 M>T No ESP
ExAC
TOPMed
gnomAD
rs2073863106 212 A>V No gnomAD
rs758996837 213 R>L No TOPMed
gnomAD
COSM5746171
COSM5746170
rs758996837
213 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM33699
VAR_035976
rs1187034389
COSM1418470
213 R>W Variant assessed as Somatic; MODERATE impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] No NCI-TCGA Cosmic
cosmic curated
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs147943506 217 P>S No ESP
ExAC
gnomAD
rs2073864749 218 V>A No Ensembl
rs1395880205 219 D>G No TOPMed
gnomAD
COSM3586559
COSM3586560
219 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1395880205 219 D>V No TOPMed
gnomAD
rs757014696 220 V>M No ExAC
gnomAD
COSM419869 221 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201371514 223 S>C No gnomAD
rs754207770 224 R>Q No ExAC
TOPMed
gnomAD
rs2073866134
COSM1418471
COSM1418472
224 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
COSM167940
COSM167939
rs955692370
225 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2073867233 226 L>F No TOPMed
rs2073867233 226 L>V No TOPMed
rs779412797 227 I>T No ExAC
TOPMed
gnomAD
rs200074249 228 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748659408 228 D>V No ExAC
gnomAD
rs2073868149 229 E>* No TOPMed
rs2073868149 229 E>K No TOPMed
rs1213746877 230 H>L No Ensembl
rs1238959225 233 L>F No gnomAD
TCGA novel 234 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1283525207 234 K>R No gnomAD
rs777754688 235 K>Q No ExAC
gnomAD
rs988543950 235 K>R No gnomAD
TCGA novel 235 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747144139 236 K>N No ExAC
TOPMed
gnomAD
TCGA novel 237 V>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4928998
COSM4928997
240 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1453781646 241 P>R No gnomAD
COSM6162918
COSM6162917
244 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745593277 244 E>Q No ExAC
gnomAD
rs1253377965 245 L>V No TOPMed
gnomAD
rs1580287196 246 D>A No Ensembl
COSM479330
COSM479331
246 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1176928133 247 R>L No gnomAD
rs1176928133 247 R>Q No gnomAD
rs769640788 247 R>W No ExAC
TOPMed
gnomAD
rs775488440 248 E>D No ExAC
TOPMed
gnomAD
rs1348249425 251 R>Q No TOPMed
gnomAD
COSM1255177
COSM1255178
rs763633331
251 R>W Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs767223024 255 C>R No ExAC
TOPMed
gnomAD
rs927106953 256 I>L No Ensembl
rs759964034 257 R>H No ExAC
TOPMed
gnomAD
rs2148924116 257 R>S No Ensembl
rs2073875672 258 C>S No TOPMed
rs765568473 259 S>G No ExAC
gnomAD
rs2073876095 259 S>N No gnomAD
rs1407730598
COSM3767212
COSM3767213
259 S>R liver [Cosmic] No cosmic curated
TOPMed
gnomAD
rs141564219 260 D>E No ESP
ExAC
TOPMed
gnomAD
rs753215758 260 D>N No ExAC
gnomAD
rs527852522 261 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs1580288002
COSM4900597
COSM4900596
261 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs527852522 261 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs996749611 262 F>S No TOPMed
gnomAD
rs2073877713 262 F>V No TOPMed
rs1400621156 264 G>R No TOPMed
gnomAD
rs1273741730 265 R>C No TOPMed
gnomAD
rs2073879146 265 R>H No Ensembl
rs1273741730 265 R>S No TOPMed
gnomAD
rs376230974 266 N>S No ESP
ExAC
TOPMed
gnomAD
rs1560415752 267 C>G No Ensembl
rs955352199 270 G>D No TOPMed
gnomAD
rs779756637 271 S>I No ExAC
gnomAD
rs779756637 271 S>N No ExAC
gnomAD
rs2148924676 271 S>R No Ensembl
TCGA novel 272 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073881639 276 S>N No Ensembl
rs2073881849 277 L>P No Ensembl
rs2148924767 279 P>H No Ensembl
rs1464349618 283 S>N No gnomAD
rs2148924832 284 L>F No Ensembl
rs768428705 286 D>E No ExAC
TOPMed
gnomAD
rs1442459337 289 H>D No gnomAD
rs771777430 290 S>C No ExAC
TOPMed
gnomAD
rs772974571 292 R>G No ExAC
TOPMed
gnomAD
COSM1195816
COSM1195817
rs1293775314
292 R>Q lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs772974571 292 R>W No ExAC
TOPMed
gnomAD
rs760442264 294 H>N No ExAC
gnomAD
rs1275974427 295 L>M No gnomAD
rs2148925164 296 H>N No Ensembl
rs2073885436 296 H>R No Ensembl
rs974673495 299 W>* No TOPMed
gnomAD
rs2272486 300 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763385799 301 V>L No ExAC
TOPMed
gnomAD
rs763385799 301 V>M No ExAC
TOPMed
gnomAD
rs2073887348
TCGA novel
302 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM1211325
rs1486661865
COSM1211326
302 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1486661865 302 R>L No TOPMed
gnomAD
rs1477112890 307 D>G No gnomAD
rs757313652 309 C>Y No ExAC
TOPMed
gnomAD
rs779344452 311 Q>E No Ensembl
rs1458418566 313 R>Q No gnomAD
COSM75062
rs2148925540
COSM1037416
313 R>W ovary Variant assessed as Somatic; MODERATE impact. pancreas large_intestine endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2073889403 314 L>I No TOPMed
gnomAD
rs202144425 315 F>L No ExAC
TOPMed
gnomAD
rs750616980 315 F>V No ExAC
gnomAD
rs200361341 316 E>K No ExAC
gnomAD
rs200361341 316 E>Q No ExAC
gnomAD
rs2073890715 317 Q>* No Ensembl
COSM4112944
COSM4112943
rs768503730
317 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs778991469 318 D>H No ExAC
TOPMed
gnomAD
rs1339336597 320 E>V No TOPMed
gnomAD
rs2073891850 321 K>R No Ensembl
rs1386584872 324 D>V No TOPMed
gnomAD
rs1580674727 326 I>K No Ensembl
rs754157855 327 S>G No ExAC
gnomAD
rs754718379 327 S>N No ExAC
rs754157855 327 S>R No ExAC
gnomAD
rs1285523607 328 H>Q No TOPMed
gnomAD
rs143158095 329 N>D No ESP
ExAC
TOPMed
gnomAD
COSM4112945
COSM4112946
330 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747987292 331 E>K No ExAC
rs1451361257 334 L>R No Ensembl
rs758361379
COSM321088
COSM321087
335 Q>R lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs777866244 338 T>K No ExAC
TOPMed
gnomAD
rs777866244 338 T>M No ExAC
TOPMed
gnomAD
rs553248799 339 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 339 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3722230
rs2149214219
COSM3722229
341 G>R upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
TCGA novel 344 Y>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs146706912 347 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1321579749 347 A>V No gnomAD
rs1396411645 349 D>E No TOPMed
gnomAD
rs1039047840 351 Q>R No Ensembl
rs762191401 352 T>A No ExAC
TOPMed
COSM203200
COSM203199
rs767954772
352 T>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762191401 352 T>P No ExAC
TOPMed
rs1219770714 354 H>R No Ensembl
rs2077050404 354 H>Y No Ensembl
rs2077050855 355 N>S No TOPMed
COSM445468
COSM445467
356 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200318501 357 F>L No 1000Genomes
COSM5983034
COSM5983033
358 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1220622389 358 A>T No TOPMed
gnomAD
rs1280186140 358 A>V No gnomAD
rs766540759 359 M>R No ExAC
TOPMed
gnomAD
rs766540759 359 M>T No ExAC
TOPMed
gnomAD
rs202139324 359 M>V No 1000Genomes
ExAC
gnomAD
rs1580675946 360 N>D No TOPMed
gnomAD
rs1275604494 360 N>I No gnomAD
rs373123729 360 N>K No ESP
ExAC
TOPMed
gnomAD
rs1275604494 360 N>T No gnomAD
rs765577380 362 M>R No ExAC
gnomAD
rs765577380 362 M>T No ExAC
gnomAD
rs755186379 362 M>V No ExAC
TOPMed
gnomAD
COSM4894018
COSM4894019
364 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs945697999 365 Y>C No TOPMed
gnomAD
rs945697999 365 Y>S No TOPMed
gnomAD
TCGA novel 366 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200722793 367 N>Y No 1000Genomes
ExAC
rs1580982931 369 N>T No Ensembl
rs765485010 370 R>C No ExAC
TOPMed
gnomAD
rs765485010 370 R>G No ExAC
TOPMed
gnomAD
rs762826694 370 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs765485010 370 R>S No ExAC
TOPMed
gnomAD
rs764027557 371 I>L No ExAC
TOPMed
gnomAD
rs764027557 371 I>V No ExAC
TOPMed
gnomAD
rs751419394 372 M>I No ExAC
gnomAD
rs1463336252 372 M>T No gnomAD
rs1012568707 372 M>V No TOPMed
gnomAD
rs1161094085
COSM1693357
COSM1693358
373 S>F Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1580983271 373 S>P No Ensembl
rs749891135
COSM1418475
COSM1418476
374 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201405841 376 S>F No ExAC
gnomAD
rs779681212 376 S>P No ExAC
rs564023716 377 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs778157076 377 R>H No ExAC
TOPMed
gnomAD
rs778157076 377 R>L No ExAC
TOPMed
gnomAD
rs778157076 377 R>P No ExAC
TOPMed
gnomAD
rs1228636476 378 L>F No gnomAD
rs777005096 378 L>P No ExAC
rs1251483120 379 S>P No gnomAD
TCGA novel 380 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1037422
COSM1037420
381 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763305275 382 G>A No ExAC
TOPMed
gnomAD
TCGA novel 382 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775831111 382 G>S No ExAC
TOPMed
gnomAD
COSM1037425
rs764255455
COSM1037423
384 Y>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1232182380 385 A>D No TOPMed
rs1232182380 385 A>G No TOPMed
rs751320978 389 I>F No ExAC
gnomAD
rs1490848802 389 I>M No TOPMed
gnomAD
rs1003519497 392 I>L No TOPMed
gnomAD
rs1003519497 392 I>V No TOPMed
gnomAD
rs1193671850 394 T>I No TOPMed
gnomAD
TCGA novel 395 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2079877033 397 D>N No Ensembl
rs368108358 399 E>K No Ensembl
rs142370141 401 K>R No ESP
ExAC
TOPMed
gnomAD
rs750398446 402 S>N No ExAC
gnomAD
rs1376143446 402 S>R No gnomAD
rs2289778 403 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 404 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1287577678 404 A>T No gnomAD
rs1226894346 404 A>V No TOPMed
gnomAD
rs2149403091 405 A>S No Ensembl
TCGA novel 405 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754572975
COSM1037428
COSM1037426
410 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139591910 410 R>H No TOPMed
gnomAD
rs778440570 411 S>N No ExAC
TOPMed
gnomAD
rs1445082655 412 T>N No TOPMed
rs1282025271 412 T>S No gnomAD
rs2079881212 413 I>V No TOPMed
rs1215285323 415 A>S No TOPMed
gnomAD
rs1215285323 415 A>T No TOPMed
gnomAD
rs747328303 416 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs771263399 418 A>T No ExAC
gnomAD
rs2079883340 421 H>R No TOPMed
rs1321067563 421 H>Y No TOPMed
gnomAD
rs1460566800 422 Q>R No TOPMed
rs781715049 423 K>Q No ExAC
gnomAD
TCGA novel 424 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs138624947 424 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 424 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4825266
COSM4825267
425 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM581307
COSM581308
rs754353572
426 Q>K lung [Cosmic] No cosmic curated
gnomAD
TCGA novel 427 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 427 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781448055 429 S>L No ExAC
gnomAD
rs2149431810 430 G>V No Ensembl
rs2080332139 431 V>E No Ensembl
rs780720857 431 V>M No ExAC
gnomAD
rs1273521942 433 A>D No gnomAD
rs749314623 433 A>T No ExAC
gnomAD
rs1581027495 435 C>G No Ensembl
rs768685899 437 M>T No ExAC
TOPMed
gnomAD
rs774623456 440 E>K No ExAC
gnomAD
rs1181397779 441 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1255533658 442 G>D No gnomAD
rs748371425 445 S>P No ExAC
gnomAD
rs1408634891 446 E>K No TOPMed
gnomAD
rs1408634891 446 E>Q No TOPMed
gnomAD
rs2080336267 447 M>I No gnomAD
rs2080336105 447 M>T No gnomAD
rs2080336520 448 Q>K No TOPMed
COSM1308499
COSM1308498
449 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs111472457 451 E>D No ExAC
gnomAD
rs145154359 452 L>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs575848633 452 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3800979
COSM3800980
453 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs950036349 454 I>T No TOPMed
gnomAD
COSM4935570
COSM4935571
455 H>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1051582363 455 H>Q No TOPMed
gnomAD
rs1360998481 456 H>Q No TOPMed
gnomAD
rs2080338370 456 H>R No gnomAD
rs555007733 457 H>N No 1000Genomes
gnomAD
rs555007733 457 H>Y No 1000Genomes
gnomAD
rs768120788 459 T>I No ExAC
gnomAD
rs1560582010 467 A>T No Ensembl
rs1278212375 469 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1278212375 469 T>R No TOPMed
gnomAD
rs752576805 471 V>A No Ensembl
rs2080900906 472 S>R No gnomAD
rs544049520 474 D>G No 1000Genomes
TCGA novel 475 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM203207
COSM203208
475 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3974128
COSM3974127
476 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1037431
COSM1037429
rs1373087480
477 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs1320211256 480 D>E No gnomAD
rs1345558885 481 V>M No gnomAD
rs763644292 484 R>L No ExAC
TOPMed
gnomAD
rs763644292 484 R>Q No ExAC
TOPMed
gnomAD
rs201924423 484 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs779499911 487 S>G No ExAC
gnomAD
rs1468302262 488 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs752649073 488 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs758537308 489 G>R No ExAC
TOPMed
gnomAD
rs777954894 490 N>K No ExAC
TOPMed
gnomAD
COSM3586566
COSM3586565
491 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1375131220 491 S>P No TOPMed
rs912846821 492 E>D No TOPMed
gnomAD
rs770680654 492 E>K No ExAC
TOPMed
gnomAD
COSM5863372
COSM5863371
493 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1037434
COSM1037432
493 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753457795 495 T>M No ExAC
TOPMed
gnomAD
rs769559282 497 T>A No ExAC
gnomAD
rs1193038388 498 A>T No TOPMed
gnomAD
rs2080907590 499 N>S No TOPMed
rs142387311 502 K>E No ESP
ExAC
gnomAD
rs768339670 502 K>R No ExAC
TOPMed
gnomAD
rs2080908821 504 V>M No Ensembl
rs1444242851 506 Q>E No gnomAD
TCGA novel 508 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 509 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369079208 510 V>L No ESP
ExAC
TOPMed
gnomAD
rs369079208 510 V>M No ESP
ExAC
TOPMed
gnomAD
rs2080910519 512 H>L No Ensembl
TCGA novel 512 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766098131 513 E>D No ExAC
TOPMed
gnomAD
rs1560594705
COSM3586570
COSM3586569
513 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1560594754 514 V>L No Ensembl
rs765655082 516 H>Y No ExAC
gnomAD
rs950358380 518 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1560594838 519 R>Q No TOPMed
rs35057827 520 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs35057827 520 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM2154299
rs147539685
COSM2154300
520 R>W pancreas central_nervous_system [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM727794
COSM727793
522 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1581078329 522 E>G No Ensembl
rs1435543271 523 S>N No TOPMed
gnomAD
rs757420104 527 H>D No ExAC
gnomAD
rs757420104 527 H>Y No ExAC
gnomAD
rs781489605 528 R>C No ExAC
TOPMed
gnomAD
rs781489605 528 R>G No ExAC
TOPMed
gnomAD
rs745583948
COSM1037440
COSM1037438
528 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs745583948 528 R>P No ExAC
gnomAD
rs1581078564 530 V>G No Ensembl
rs145372611 530 V>M No ESP
ExAC
TOPMed
gnomAD
rs559509346 531 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200426937 531 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs1581078764 533 H>P No Ensembl
rs765678789 535 R>Q No ExAC
TOPMed
gnomAD
rs373695522 535 R>W No ESP
ExAC
TOPMed
gnomAD
rs933226210 536 L>V No Ensembl
COSM6162913
COSM6162914
539 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1227217399 540 V>D No gnomAD
rs1056310843
RCV002249056
540 V>I No ClinVar
TOPMed
dbSNP
gnomAD
rs1056310843 540 V>L No TOPMed
gnomAD
rs1239242304 550 D>G No gnomAD
rs1031039993 550 D>N No gnomAD
rs1031039993 550 D>Y No gnomAD
COSM6095925
COSM6095926
551 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 551 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777885226 552 I>V No ExAC
TOPMed
gnomAD
rs1204492703 553 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1430155437 556 G>D No gnomAD
rs753908960 558 A>G No ExAC
TOPMed
gnomAD
rs1189439510 558 A>T No gnomAD
rs753908960 558 A>V No ExAC
TOPMed
gnomAD
rs989671927 559 F>Y No TOPMed
gnomAD
rs1560631756 563 H>Q No Ensembl
rs2082337974 564 T>A No Ensembl
rs1453598096 564 T>S No TOPMed
gnomAD
rs2082338325 565 G>A No Ensembl
rs915365444 566 V>A No Ensembl
rs537533367 568 K>M No 1000Genomes
ExAC
rs557200353 571 H>R No 1000Genomes
ExAC
gnomAD
rs756322644 574 R>G No ExAC
TOPMed
gnomAD
rs766536285 574 R>Q No ExAC
TOPMed
gnomAD
rs756322644 574 R>W No ExAC
TOPMed
gnomAD
TCGA novel 576 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM5420873
COSM5420874
581 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082340890 582 D>E No Ensembl
rs754827445 582 D>N No ExAC
rs2082341506 585 E>D No TOPMed
rs1231654429 585 E>G No TOPMed
gnomAD
rs61746078 585 E>Q No ExAC
TOPMed
gnomAD
rs1231654429 585 E>V No TOPMed
gnomAD
rs2082341703 587 A>D No Ensembl
rs752728212 588 Q>* No ExAC
rs752728212 588 Q>K No ExAC
rs777294280 588 Q>L No ExAC
rs777294280 588 Q>R No ExAC
COSM1037443
COSM1037441
590 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1037444
COSM1037446
590 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1658158752 592 T>I No gnomAD
rs1461199372 594 A>E No gnomAD
COSM3426986
rs1461199372
COSM3426985
594 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs1214930111 596 K>R No TOPMed
rs1295895983 598 L>P No gnomAD
rs768979505 599 E>Q No ExAC
TOPMed
gnomAD
rs779210976 602 E>A No ExAC
TOPMed
rs779210976 602 E>G No ExAC
TOPMed
rs1410285689 603 Q>H No TOPMed
gnomAD
rs371608281 605 A>P No ESP
ExAC
TOPMed
gnomAD
rs371608281 605 A>S No ESP
ExAC
TOPMed
gnomAD
rs2087969095 607 T>M No TOPMed
rs760808499 608 G>R No ExAC
TOPMed
gnomAD
TCGA novel 609 E>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1459444810 611 D>E No TOPMed
gnomAD
rs771180721 612 P>A No ExAC
gnomAD
rs765575292 613 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1483462479 615 I>T No gnomAD
rs2087975349 616 Y>C No gnomAD
rs1576479506 616 Y>H No Ensembl
COSM3992690
COSM3992691
617 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1476372037 619 A>S No gnomAD
rs2087977126 620 R>G No TOPMed
gnomAD
rs943574312 620 R>P No Ensembl
COSM1255179
COSM1255180
rs943574312
620 R>Q Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1039448876 621 H>P No Ensembl
rs548490375 621 H>Q No 1000Genomes
ExAC
gnomAD
rs1231883400 621 H>Y No TOPMed
rs1427491805 622 L>M No gnomAD
COSM6095924
COSM6095923
622 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751509204 624 V>G No ExAC
gnomAD
rs377421115 625 R>C No ESP
ExAC
TOPMed
gnomAD
rs377421115 625 R>G No ESP
ExAC
TOPMed
gnomAD
rs749969083 625 R>H No ExAC
TOPMed
gnomAD
rs749969083 625 R>L No ExAC
TOPMed
gnomAD
rs749969083 625 R>P No ExAC
TOPMed
gnomAD
rs141013560 626 I>V No ESP
ExAC
TOPMed
gnomAD
COSM3586573
COSM3586574
627 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2087983869 628 D>G No TOPMed
COSM1037447
COSM1037449
628 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1450157789 630 V>L No gnomAD
rs1450157789 630 V>M No gnomAD
COSM4955979
rs1400105743
COSM4955980
631 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM4112949
rs748480747
COSM4112950
631 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748480747 631 R>L No ExAC
TOPMed
gnomAD
COSM6162911
COSM6162912
632 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2087987387 634 E>D No TOPMed
rs1422971968 634 E>G No TOPMed
COSM1566304
COSM1566303
634 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 636 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4112951
COSM4112952
rs2087988200
636 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1417596326 637 K>E No Ensembl
rs1172076286 639 L>I No TOPMed
gnomAD
rs2087991616 643 S>T No Ensembl
rs2087992428 644 V>A No TOPMed
COSM1693366
COSM1693365
645 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1444586301 648 T>A No gnomAD
rs141149712 648 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141149712 648 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2087995330 649 H>Q No TOPMed
rs145738438 650 T>I No ESP
rs1560759361 651 K>E No Ensembl
TCGA novel 651 K>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 652 E>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs2089992924 653 L>M No Ensembl
rs148882611 654 W>C No ESP
ExAC
TOPMed
gnomAD
rs13074913 654 W>G No Ensembl
COSM3586576
COSM3586575
656 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs189745979 657 M>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs189745979 657 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1037451
COSM1037453
659 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs141371914 660 L>F No 1000Genomes
gnomAD
rs141371914 660 L>I No 1000Genomes
gnomAD
rs13095390 661 Q>H No Ensembl
rs761612101 664 M>I No ExAC
TOPMed
gnomAD
rs1212666711 665 L>V No gnomAD
TCGA novel 667 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1414173758 668 V>I No gnomAD
rs538115022 670 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs773202936 672 S>C No ExAC
gnomAD
rs773202936 672 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs760169259 674 D>H No ExAC
TOPMed
gnomAD
rs1184266369 677 Q>R No gnomAD
TCGA novel 681 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs9841322 681 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1576558407 683 F>V No Ensembl
COSM727792
COSM727791
684 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 685 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1393194522 688 T>P No gnomAD
rs141093471 689 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2090002029 689 A>V No gnomAD
TCGA novel 691 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1412222592 692 D>N No gnomAD
rs1289591044 696 N>D No TOPMed
gnomAD
rs757760603 696 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 697 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772163857 697 V>I No TOPMed
gnomAD
rs1462181059 699 K>Q No TOPMed
rs756232057 702 E>K No ExAC
TOPMed
gnomAD
rs2150060768 703 D>N No Ensembl
rs749410144 705 I>M No ExAC
gnomAD
rs376459385 705 I>N No ESP
ExAC
TOPMed
gnomAD
rs376459385 705 I>S No ESP
ExAC
TOPMed
gnomAD
rs1237023124 705 I>V No TOPMed
gnomAD
rs2090005802 707 Q>K No Ensembl
rs1252507260 707 Q>R No TOPMed
gnomAD
rs1185089231 710 S>* No gnomAD
rs779202679 710 S>A No ExAC
TOPMed
rs369298361 711 A>V No ESP
ExAC
gnomAD
rs773114910 712 P>L No ExAC
gnomAD
rs1312603937 712 P>S No TOPMed
gnomAD
rs267599582 714 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1373234506 715 L>F No gnomAD
rs770918810 716 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs770918810 716 G>W No ExAC
TOPMed
gnomAD
rs2090011648 717 E>A No TOPMed
rs752454092 717 E>D No ExAC
gnomAD
rs944511609 718 P>S No Ensembl
rs2090012870 719 S>G No Ensembl
rs138531803 719 S>N No ESP
ExAC
TOPMed
gnomAD
rs768033121 719 S>R No ExAC
gnomAD
rs756529548 720 E>K No ExAC
gnomAD
rs756529548 720 E>Q No ExAC
gnomAD
rs1560792214 721 A>T No Ensembl
TCGA novel 721 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2090480291 723 D>E No TOPMed
rs1487526596 725 A>P No TOPMed
gnomAD
rs1166624148 726 V>M No TOPMed
gnomAD
rs61745397 727 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1560804184 728 N>I No Ensembl
rs1576587745 731 T>P No Ensembl
rs1458141208 732 P>H No TOPMed
gnomAD
rs1458141208 732 P>L No TOPMed
gnomAD
rs775092304 732 P>S No 1000Genomes
ExAC
gnomAD
rs748821534 733 H>N No ExAC
gnomAD
rs2090484629 734 S>N No TOPMed
gnomAD
rs768358120 734 S>R No ExAC
TOPMed
gnomAD
rs2150096412 735 S>G No Ensembl
rs1576587863 736 S>P No Ensembl
rs774215335 737 I>T No ExAC
gnomAD
COSM1418483
COSM1418484
738 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150096471 739 H>N No Ensembl
rs1265098734 741 E>G No gnomAD
rs760936416 741 E>K No ExAC
gnomAD
rs766818886 742 S>L No ExAC
TOPMed
gnomAD
COSM6162909
COSM6162910
743 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762878763 743 V>L No Ensembl
rs369602016 745 Q>R No ESP
ExAC
TOPMed
gnomAD
rs752703180 746 Q>K No ExAC
TOPMed
gnomAD
rs1021976643 747 L>F No TOPMed
rs1576588072 749 D>N No Ensembl
rs1448085432 751 Q>E No gnomAD
rs2090488607 752 V>M No TOPMed
TCGA novel 753 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1241536596 754 M>T No TOPMed
gnomAD
rs758537143 755 E>D No ExAC
gnomAD
rs764284502 756 E>* No ExAC
gnomAD
rs1224063744 756 E>A No TOPMed
gnomAD
COSM3914779
COSM3914778
756 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764284502 756 E>Q No ExAC
gnomAD
rs1482804299 758 F>L No TOPMed
gnomAD
rs375653971 759 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780999875 760 E>K No ExAC
TOPMed
gnomAD
rs2090490862 760 E>V No TOPMed
rs996622312 761 R>Q No TOPMed
gnomAD
rs745673540
COSM367336
COSM367337
761 R>W lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1421624620 763 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 765 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1166553932 766 D>G No gnomAD
rs2090492379 766 D>N No TOPMed
rs1428592753 767 I>V No gnomAD
rs1306069095 768 F>L No gnomAD
rs150500689 770 Q>K No Ensembl
rs2090493766 771 L>M No gnomAD
COSM3396510
COSM3396511
rs768341806
772 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778689129 772 R>H No ExAC
TOPMed
gnomAD
rs768341806 772 R>S No ExAC
TOPMed
gnomAD
rs747879072 775 E>D No ExAC
gnomAD
rs1341508925 779 I>N No gnomAD
COSM3057565
COSM3057564
rs1285210270
780 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1423941122 781 V>L No gnomAD
rs201826068 783 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375061022 785 L>I No ESP
ExAC
gnomAD
COSM1308502
COSM1308503
786 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150266707 786 D>H No Ensembl
rs2150266707 786 D>N No Ensembl
rs755363438 787 A>S No ExAC
TOPMed
gnomAD
COSM1037459
rs755363438
COSM1037457
787 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779442681 792 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA
rs147503705 793 L>F No ESP
ExAC
gnomAD
rs2150266960 793 L>H No 1000Genomes
rs147503705 793 L>I No ESP
ExAC
gnomAD
rs368587035 794 R>Q No ESP
ExAC
TOPMed
gnomAD
rs773381868 794 R>W No ExAC
gnomAD
rs2150267112
COSM1285638
COSM1285637
796 M>I autonomic_ganglia Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs2150267081 796 M>T No Ensembl
rs1656215830 796 M>V No TOPMed
rs771268887 800 N>S No ExAC
gnomAD
rs2092316802 801 T>K No TOPMed
gnomAD
rs777064745 801 T>S No ExAC
gnomAD
rs759346797 803 D>N No ExAC
TOPMed
gnomAD
rs1239392325 804 L>V No gnomAD
COSM4399053
rs764993094
COSM4399052
805 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1576717041 805 T>P No Ensembl
rs762761398 806 L>V No ExAC
gnomAD
rs538556913 807 A>E No ExAC
TOPMed
gnomAD
rs538556913 807 A>V No ExAC
TOPMed
gnomAD
rs140243919 808 E>G No ESP
ExAC
TOPMed
gnomAD
rs1560857325 808 E>K No Ensembl
rs1560857325 808 E>Q No Ensembl
rs755345910 810 R>Q No ExAC
gnomAD
rs767151194 810 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2150267735 811 L>V No Ensembl
rs1576717326 812 Q>* No Ensembl
rs1576717326 812 Q>E No Ensembl
rs753133795 812 Q>R No ExAC
gnomAD
COSM1037460
COSM1037462
rs758760625
813 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367667422 813 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3586579
COSM3586580
814 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs988749057 814 H>Q No TOPMed
gnomAD
rs747085989 814 H>Y No ExAC
TOPMed
gnomAD
rs1576717478 815 T>K No Ensembl
rs2150268120
COSM5863373
COSM5863374
817 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs781546248 817 R>W No ExAC
gnomAD
rs1576717546 818 K>N No Ensembl
rs912979158 819 L>P No TOPMed
gnomAD
rs912979158 819 L>Q No TOPMed
gnomAD
rs746030902 819 L>V No ExAC
TOPMed
gnomAD
rs770088606 820 A>D No ExAC
TOPMed
gnomAD
rs2150268338 821 M>I No Ensembl
rs2150268401 822 N>K No Ensembl
rs775081836 822 N>S No ExAC
TOPMed
gnomAD
rs2150268453 824 M>I No Ensembl
rs768566780 825 T>A No ExAC
TOPMed
gnomAD
rs776598696 825 T>I No ExAC
TOPMed
gnomAD
rs776598696 825 T>N No ExAC
TOPMed
gnomAD
rs776598696 825 T>S No ExAC
TOPMed
gnomAD
rs2150268605
TCGA novel
827 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
TCGA novel 829 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2150268641 830 Q>K No Ensembl
rs2150268696 831 Q>* No Ensembl
rs2092320778 831 Q>P No Ensembl
rs760201688 832 G>A No ExAC
gnomAD
rs2150268757 832 G>R No Ensembl
rs752943086 833 Q>R No ExAC
TOPMed
gnomAD
rs972711554 834 D>G No Ensembl
rs758868403 835 L>M No ExAC
gnomAD
rs752164062 836 H>Q No ExAC
TOPMed
gnomAD
rs2092321555 836 H>Y No TOPMed
rs112304715 837 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs769850350 840 T>M No ExAC
TOPMed
gnomAD
COSM3846053
COSM3846052
841 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749031723 841 E>A No ExAC
TOPMed
gnomAD
rs768479973 842 V>A No ExAC
TOPMed
gnomAD
rs2092322828 842 V>F No gnomAD
rs1159456558 846 G>E No gnomAD
rs1204410868 851 C>* No Ensembl
rs1455971505 851 C>S No gnomAD
rs771239842 852 E>D No gnomAD
rs1430346617 852 E>K No TOPMed
rs2092842206 853 K>E No Ensembl
rs770526424 854 D>H No ExAC
TOPMed
gnomAD
COSM300477
COSM300478
854 D>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1366064489 855 I>V No TOPMed
gnomAD
rs776030651 856 D>H No ExAC
TOPMed
gnomAD
rs776030651 856 D>N No ExAC
TOPMed
gnomAD
rs2092842776 858 A>T No TOPMed
rs2092842873 858 A>V No Ensembl
rs193116930 859 A>T No 1000Genomes
ExAC
gnomAD
rs1051553828 861 V>A No Ensembl
rs762327137 862 Q>* No ExAC
gnomAD
rs750978589 863 E>K No ExAC
TOPMed
gnomAD
rs1017889688 864 L>S No TOPMed
COSM4411877
COSM4411878
864 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs964778183 865 L>F No TOPMed
gnomAD
rs766432482 866 E>K No ExAC
gnomAD
rs753948334 867 F>L No ExAC
gnomAD
rs753948334 867 F>V No ExAC
gnomAD
rs1481194638 868 L>F No gnomAD
rs2150364762 869 H>N No Ensembl
rs1177397551 869 H>P No gnomAD
rs1576798965 869 H>Q No TOPMed
rs1576798996 873 H>Q No Ensembl
COSM727787
COSM727788
873 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150364876 875 L>F No Ensembl
rs2092845207 877 L>F No Ensembl
rs1032315445 878 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1032315445 878 N>H No gnomAD
rs2092845495 878 N>S No Ensembl
rs1164868672 879 A>S No gnomAD
rs2092845805 880 E>* No Ensembl
rs1429019381 880 E>G No gnomAD
TCGA novel 881 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1275911494 881 Q>E No TOPMed
gnomAD
rs893784782 882 T>I No Ensembl
rs2092846231 883 H>Y No gnomAD
rs758252421 885 R>Q No ExAC
TOPMed
gnomAD
rs779118555 885 R>W No ExAC
TOPMed
gnomAD
COSM1037465
COSM1037463
886 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2092846718 887 E>D No TOPMed
gnomAD
rs1310212200 887 E>Q No TOPMed
gnomAD
rs746919230 893 R>C No ExAC
gnomAD
rs770807961 893 R>H No ExAC
TOPMed
gnomAD
rs770807961 893 R>L No ExAC
TOPMed
gnomAD
rs1315816214 894 H>R No TOPMed
gnomAD
rs776142699 900 K>R No ExAC
TOPMed
gnomAD
rs375809932 902 V>A No ESP
ExAC
gnomAD
COSM5521713
COSM5521712
904 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769469581 905 W>C No ExAC
gnomAD
rs1422873567 905 W>G No TOPMed
gnomAD
rs559612435 907 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs369008691 907 R>H No ESP
ExAC
TOPMed
gnomAD
rs369008691 907 R>L No ESP
ExAC
TOPMed
gnomAD
rs1030945839 909 G>A No Ensembl
rs1030945839 909 G>E No Ensembl
rs1181997211 910 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs760956956 912 M>I No ExAC
TOPMed
gnomAD
rs771452399 914 N>S No ExAC
TOPMed
gnomAD
rs956518670 915 A>P No TOPMed
gnomAD
rs956518670
COSM1670521
COSM1670522
915 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
TOPMed
gnomAD
rs777184569 915 A>V No ExAC
TOPMed
gnomAD
rs2093232053 917 L>P No TOPMed
rs765256087 918 V>L No ExAC
TOPMed
gnomAD
COSM270937
COSM270938
919 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752809322 921 S>I No ExAC
TOPMed
gnomAD
rs752809322 921 S>T No ExAC
TOPMed
gnomAD
rs1022349879 922 S>C No gnomAD
rs1022349879 922 S>F No gnomAD
rs147315682 924 S>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 927 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 927 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs201657548 931 R>Q No ExAC
TOPMed
gnomAD
rs376556713 931 R>W No ESP
ExAC
TOPMed
gnomAD
rs370659528 933 H>Q No ESP
ExAC
TOPMed
gnomAD
rs2093233516 934 E>Q No Ensembl
rs2093233799 938 L>V No Ensembl
COSM3940250
COSM3940249
rs1005052466
939 A>T oesophagus [Cosmic] No cosmic curated
TOPMed
gnomAD
rs2093234174 940 I>V No Ensembl
rs2093234393
COSM727785
COSM727786
941 E>K lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs2093389130 945 H>N No Ensembl
rs1560927763 946 A>D No Ensembl
COSM3057591
COSM3057590
rs2093389397
948 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1170244221 950 Q>K No TOPMed
gnomAD
rs879442495 950 Q>L No TOPMed
rs532130353 952 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs766431991 954 Q>E No ExAC
gnomAD
COSM581299
COSM581300
954 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2093390050 956 A>T No TOPMed
rs1485607922 959 V>I No TOPMed
rs148718158 960 Q>R No ESP
ExAC
TOPMed
gnomAD
rs1001691505 964 E>K No TOPMed
gnomAD
rs142259596 965 V>M No ESP
ExAC
TOPMed
gnomAD
rs1217616932 968 Q>K No TOPMed
gnomAD
rs2093390952 969 A>V No TOPMed
COSM4760953
COSM4760954
rs758082655
970 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1418489
COSM1418490
rs746247182
973 D>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139299626 974 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1371798406 975 D>G No gnomAD
rs1188042863 975 D>N No gnomAD
rs774545116 978 R>Q No Ensembl
COSM245116
COSM245117
rs1255029861
978 R>W prostate [Cosmic] No cosmic curated
TOPMed
gnomAD
TCGA novel 979 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 979 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774513024 980 C>Y No ExAC
TOPMed
gnomAD
rs761899767 984 V>L No ExAC
gnomAD
rs1576899617 985 A>P No Ensembl
COSM1037468
rs1466309558
COSM1037466
985 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs767857150 986 L>F No ExAC
gnomAD
rs1402769598 986 L>R No TOPMed
gnomAD
rs1294257800 987 H>L No TOPMed
gnomAD
rs760601629 987 H>Y No ExAC
TOPMed
gnomAD
rs753754354 991 L>F No ExAC
TOPMed
gnomAD
rs2093393060 992 M>I No TOPMed
rs1469104497 995 M>I No TOPMed
gnomAD
rs1201974871 995 M>T No gnomAD
rs2093393372 997 D>V No TOPMed
rs764616767 998 R>Q No ExAC
gnomAD
rs1265188394 998 R>W No TOPMed
gnomAD
rs369397521 999 L>V No ESP
ExAC
TOPMed
gnomAD
rs1576900023 1001 L>M No Ensembl
COSM1418491
COSM1418492
1001 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1576900090 1002 V>G No Ensembl
rs757990788 1002 V>I No ExAC
gnomAD
rs1449234865 1003 N>S No gnomAD
rs1194597403 1004 A>T No gnomAD
rs2093394279 1006 V>A No gnomAD
rs1456728329 1008 F>S No gnomAD
rs1259621731 1012 S>C No TOPMed
gnomAD
COSM3586590
COSM3586589
1013 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1377398299 1014 Q>R No gnomAD
rs776504013 1016 C>Y No ExAC
gnomAD
rs374025165 1018 V>A No ESP
ExAC
gnomAD
rs2093571091 1020 E>D No Ensembl
TCGA novel 1020 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2093571174 1021 S>C No Ensembl
rs748844790 1026 Y>H No Ensembl
rs547990015 1027 R>Q No gnomAD
rs765238695 1027 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
TCGA novel 1028 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1237806
COSM1237805
1029 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2093571490 1030 E>K No Ensembl
rs922061791 1031 D>H No TOPMed
gnomAD
rs922061791 1031 D>N No TOPMed
gnomAD
rs922061791 1031 D>Y No TOPMed
gnomAD
rs1304729291 1033 C>* No gnomAD
rs1560944122 1033 C>R No Ensembl
rs752139764 1033 C>Y No ExAC
gnomAD
rs762520416 1034 G>S No ExAC
gnomAD
rs763705498 1036 R>G No ExAC
TOPMed
gnomAD
rs756927820 1036 R>Q No ExAC
gnomAD
rs754233348 1037 D>N No ExAC
gnomAD
rs1244106396 1041 P>L No TOPMed
gnomAD
rs987462182 1041 P>S No TOPMed
gnomAD
rs748232934 1043 A>T No ExAC
gnomAD
rs1482962032 1044 E>D No TOPMed
gnomAD
COSM3426987
COSM3426988
1045 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2093572946 1046 D>N No TOPMed
gnomAD
rs2093572946 1046 D>Y No TOPMed
gnomAD
rs772315044 1047 H>P No ExAC
gnomAD
rs1420514784 1050 P>H No gnomAD
TCGA novel 1051 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1051 L>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs183838131 1060 E>Q No 1000Genomes
gnomAD
rs2093573484 1060 E>V No Ensembl
COSM1037471
COSM1037469
1061 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1063 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2150597235 1065 A>S No Ensembl
rs745622605 1067 T>S No ExAC
gnomAD
rs867737888 1069 A>T No Ensembl
rs1308494409 1070 R>W No gnomAD
rs143413360 1074 E>D No 1000Genomes
ExAC
gnomAD
rs1576968912 1075 V>G No TOPMed
rs1204959221 1075 V>M No gnomAD
COSM6095921
COSM6095922
1078 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4112958
COSM4112957
1078 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2093683135 1080 I>N No TOPMed
rs2093683264 1082 R>K No Ensembl
rs772957046 1083 N>D No ExAC
gnomAD
rs2150597778 1085 V>I No Ensembl
rs1175482214 1086 S>G No gnomAD
rs2093683640 1086 S>T No TOPMed
rs1427389692 1088 P>A No TOPMed
gnomAD
rs1427389692 1088 P>T No TOPMed
gnomAD
rs2093683850 1089 S>G No TOPMed
rs1471080700 1089 S>T No TOPMed
gnomAD
rs753140895 1091 A>P No ExAC
TOPMed
gnomAD
rs753140895 1091 A>T No ExAC
TOPMed
gnomAD
rs1373231312 1093 H>L No TOPMed
gnomAD
rs757401330 1095 R>Q No ExAC
TOPMed
gnomAD
rs375108520 1095 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781249162 1096 G>E No ExAC
gnomAD
rs1403752792 1098 E>K No TOPMed
gnomAD
rs756323157 1100 Q>H No ExAC
gnomAD
rs1424573484 1103 A>V No gnomAD
rs1456266446 1104 I>V No gnomAD
rs2150670853 1106 S>C No Ensembl
rs1367817563 1106 S>N No gnomAD
TCGA novel 1108 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1109 L>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2093833696 1111 R>K No TOPMed
rs77832285 1112 E>* No Ensembl
COSM3586592
COSM3586591
1112 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM5478491
COSM5478490
1114 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3660149
COSM3660150
rs375081975
1114 R>H liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs954989552 1115 V>L No TOPMed
gnomAD
rs954989552
COSM1418496
COSM1418495
1115 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1266832189 1117 H>R No TOPMed
rs778799753 1117 H>Y No ExAC
gnomAD
TCGA novel 1118 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748065907 1120 T>A No ExAC
TOPMed
gnomAD
COSM42874
COSM3586593
1120 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1377057020 1123 K>R No gnomAD
rs987606026 1124 R>L No TOPMed
gnomAD
COSM1719195
rs987606026
COSM1719194
1124 R>Q NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1245112892
COSM1418498
COSM1418497
1124 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs777267764 1125 R>Q No ExAC
TOPMed
gnomAD
COSM1165250
COSM1165251
rs771930077
1125 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1577005164 1126 L>V No Ensembl
rs1238845751 1131 Q>E No TOPMed
gnomAD
rs1560969490 1133 V>M No Ensembl
rs1577005307 1134 V>G No Ensembl
rs776467881 1135 F>L No ExAC
gnomAD
rs769093448 1137 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs373031459 1137 R>H No ESP
ExAC
TOPMed
gnomAD
rs373031459 1137 R>L No ESP
ExAC
TOPMed
gnomAD
rs376875291 1139 A>T No ESP
ExAC
TOPMed
gnomAD
COSM71242 1142 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4583869
COSM4583870
rs762144643
1142 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773631408 1143 L>F No ExAC
gnomAD
rs1221976524 1144 D>E No gnomAD
rs760720956 1144 D>N No ExAC
gnomAD
rs760720956 1144 D>Y No ExAC
gnomAD
COSM3846057
COSM3846056
1146 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766396402 1148 E>K No ExAC
TOPMed
gnomAD
rs766396402 1148 E>Q No ExAC
TOPMed
gnomAD
COSM4934242
COSM4934241
1154 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM727778
COSM727777
1156 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150680189 1157 H>Y No Ensembl
rs1204661866 1158 T>A No gnomAD
rs890446175 1159 S>F No TOPMed
rs1449245214 1160 T>S No TOPMed
gnomAD
rs2093855567 1162 E>K No TOPMed
gnomAD
rs199727098 1163 T>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs765387746 1164 T>A No ExAC
TOPMed
gnomAD
TCGA novel
rs2093855961
1165 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs201706242 1166 E>G No 1000Genomes
rs758171598 1167 T>A No ExAC
TOPMed
gnomAD
rs2093856280 1167 T>I No TOPMed
gnomAD
TCGA novel 1167 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2093856349 1168 Q>H No TOPMed
rs2093856407 1169 E>K No TOPMed
rs1466070030 1170 L>R No gnomAD
TCGA novel 1172 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2093856676 1173 E>A No Ensembl
COSM1757064
rs1382621747
COSM1757065
1174 Y>C urinary_tract [Cosmic] No cosmic curated
gnomAD
TCGA novel 1175 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751497689 1175 G>R No ExAC
gnomAD
rs1298568038 1176 E>A No gnomAD
rs757292256 1176 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
rs1403300510 1178 R>G No gnomAD
rs745386897 1178 R>S No ExAC
TOPMed
gnomAD
TCGA novel 1179 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1331920809 1180 P>S No TOPMed
gnomAD
rs2093857425 1181 A>S No TOPMed
TCGA novel 1183 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1357956440 1184 T>I No gnomAD
rs189586882 1186 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1693374
COSM1693373
1186 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2107563870 1186 E>Q No Ensembl
rs374383575 1189 K>E No ESP
ExAC
TOPMed
gnomAD
rs748843236 1190 L>F No ExAC
rs2059191168 1192 I>V No TOPMed
COSM6095919
COSM6095920
1194 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1488601534 1194 L>R No gnomAD
rs754690715 1195 A>G No ExAC
TOPMed
gnomAD
rs747383247 1196 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1442702708 1200 E>D No TOPMed
gnomAD
rs771832826 1202 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1295872116 1204 I>L No gnomAD
rs1166640661 1206 A>S No TOPMed
gnomAD
rs771412100 1206 A>V No ExAC
TOPMed
gnomAD
rs139468141
COSM3057631
COSM3057630
1207 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2059194637 1213 V>A No gnomAD
rs201801993
COSM1162738
COSM1162737
1214 T>N pancreas [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
RCV000884695
rs148828057
1215 T>K No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs148828057 1215 T>M No ESP
ExAC
TOPMed
gnomAD
rs1381138640 1216 V>M No gnomAD
rs1230600629 1218 K>E No gnomAD
rs2059196559 1218 K>T No Ensembl
COSM4112960
COSM4112959
1219 H>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1268621262 1224 S>Y No TOPMed
rs368438979 1227 M>L No ESP
ExAC
TOPMed
gnomAD
COSM1308504
COSM1308505
1228 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3767218
COSM3767219
rs767529555
1231 R>Q liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750434014 1237 A>T No ExAC
gnomAD
rs2059198951 1241 N>H No Ensembl
rs1459913150 1241 N>S No gnomAD
rs760822519 1242 T>I No Ensembl
rs760822519 1242 T>K No Ensembl
rs750813370 1244 D>N No ExAC
gnomAD
rs750813370 1244 D>Y No ExAC
gnomAD
COSM275619
COSM275618
1247 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs866766522 1249 E>K No Ensembl
TCGA novel 1249 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756566236 1250 L>M No ExAC
TOPMed
gnomAD
rs2107591156 1251 D>N No Ensembl
rs1400192975 1252 I>M No gnomAD
rs1248551186 1253 I>F No TOPMed
gnomAD
rs980944354 1254 P>L No Ensembl
rs749299134 1255 A>S No ExAC
gnomAD
rs749299134 1255 A>T No ExAC
gnomAD
rs768903468 1255 A>V No ExAC
gnomAD
rs1014023160 1256 S>R No TOPMed
gnomAD
rs1220400741 1256 S>T No TOPMed
gnomAD
COSM3426989
COSM3426990
rs867536649
1258 S>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs867536649 1258 S>W No gnomAD
rs1287866570 1259 D>N No gnomAD
rs1221493763 1260 R>P No TOPMed
gnomAD
rs1221493763 1260 R>Q No TOPMed
gnomAD
COSM3586596
COSM3586597
rs748339297
1260 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2059332346 1261 E>D No TOPMed
gnomAD
rs2059332494 1262 V>G No Ensembl
rs772820320 1265 R>P No ExAC
gnomAD
COSM1243329
COSM1243330
rs772820320
1265 R>Q oesophagus [Cosmic] No cosmic curated
ExAC
gnomAD
rs1025185719
COSM4973401
COSM4973400
1265 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs770766778 1266 D>E No ExAC
TOPMed
gnomAD
rs776667972 1267 A>G No ExAC
TOPMed
gnomAD
rs796691406 1267 A>T No gnomAD
rs561361571 1268 N>S No TOPMed
gnomAD
rs1361773277 1269 H>N No gnomAD
rs1361773277 1269 H>Y No gnomAD
rs148014867 1270 E>K No ESP
ExAC
TOPMed
gnomAD
rs148014867 1270 E>Q No ESP
ExAC
TOPMed
gnomAD
rs143519745 1271 V>I No ESP
ExAC
TOPMed
gnomAD
rs200906284 1272 N>D No 1000Genomes
ExAC
gnomAD
rs1274912240 1272 N>S No TOPMed
gnomAD
rs778311282 1273 E>* No ExAC
TOPMed
gnomAD
rs778311282 1273 E>K No ExAC
TOPMed
gnomAD
rs147099139 1274 E>D No ESP
TOPMed
gnomAD
rs999815040 1275 K>Q No TOPMed
rs899670932 1276 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM4491568
rs1038128039
COSM4491569
1276 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs750752559 1279 A>T No ExAC
TOPMed
gnomAD
rs1032511540 1280 R>Q No gnomAD
rs1221373420 1280 R>W No gnomAD
rs2059336569 1281 K>R No Ensembl
rs1395347752 1283 E>D No gnomAD
rs1332061896 1284 F>L No gnomAD
TCGA novel 1286 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1342216807 1286 M>V No gnomAD
rs2059902377 1287 A>T No TOPMed
rs766722901 1290 L>F No ExAC
gnomAD
TCGA novel 1290 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4112962
rs1220758686
COSM4112961
1291 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA Cosmic
COSM1037480
COSM1037478
1295 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1322971246 1297 V>A No gnomAD
rs1198834498 1298 R>S No gnomAD
rs1701222700 1300 L>S No TOPMed
rs2059904023 1301 H>Y No Ensembl
rs2059904376 1304 L>V No TOPMed
rs760043740 1306 T>I No ExAC
gnomAD
COSM3586598
COSM3586599
1309 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2059951798 1311 M>K No Ensembl
rs1385366054 1312 T>I No gnomAD
rs1325583270 1313 S>C No TOPMed
gnomAD
rs1325583270 1313 S>G No TOPMed
gnomAD
rs764170666 1313 S>N No ExAC
gnomAD
rs1044941148 1314 G>S No Ensembl
rs1307640945 1315 V>A No gnomAD
rs751605897 1315 V>M No ExAC
gnomAD
rs2059953081 1316 E>A No TOPMed
rs779848977 1319 P>R No ExAC
gnomAD
rs369756232 1319 P>S No ESP
ExAC
TOPMed
gnomAD
rs551346771 1320 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1215771573 1320 P>L No Ensembl
rs551346771 1320 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs551346771 1320 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1451637199 1321 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1055464623 1324 N>K No TOPMed
gnomAD
rs747665988 1324 N>S No ExAC
TOPMed
gnomAD
rs2289838
VAR_020192
1326 E>D No UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs2059955391 1326 E>K No TOPMed
COSM3800982
COSM3800981
1326 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3586602
COSM3586603
1326 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1456550513 1327 H>P No gnomAD
TCGA novel 1327 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770232422 1329 I>V No ExAC
gnomAD
COSM1197494
COSM1197493
rs916941927
1331 G>C lung [Cosmic] No cosmic curated
TOPMed
rs949934663 1331 G>V No TOPMed
rs1448245114 1335 E>D No gnomAD
rs1447772363 1335 E>G No TOPMed
gnomAD
COSM3914781
COSM3914780
rs139954729
1338 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2059959128
TCGA novel
1339 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
TCGA novel 1339 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2059959364 1340 H>Y No TOPMed
rs1178485531 1341 N>K No gnomAD
rs149360410 1341 N>S No ESP
ExAC
TOPMed
gnomAD
rs760825511 1343 I>V No ExAC
TOPMed
gnomAD
rs2061277151 1344 F>S No Ensembl
TCGA novel 1349 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1382006517 1352 E>K No Ensembl
rs2108020021 1356 E>D No Ensembl
rs2061279206 1358 V>L No TOPMed
COSM3914783
COSM3914782
1359 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1362 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs144667540 1363 V>I No ESP
TOPMed
gnomAD
rs2061515800 1367 D>E No Ensembl
rs1292415250 1368 K>T No TOPMed
gnomAD
rs2061516203 1370 Q>R No Ensembl
rs2061516741 1373 V>I No gnomAD
rs773264205 1374 T>A No ExAC
gnomAD
COSM4401289
COSM4401288
1377 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2061517167 1378 N>D No TOPMed
rs2061517670
TCGA novel
1380 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1257325588 1381 D>N No gnomAD
rs145688850 1383 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6095917
COSM6095918
1384 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2061518580 1384 Q>R No TOPMed
gnomAD
TCGA novel 1387 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs866590966 1388 E>K No Ensembl
rs74389479 1389 H>N No Ensembl
COSM1211330
rs759826348
COSM1211329
1390 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764898643 1393 F>Y No ExAC
TOPMed
gnomAD
rs752539205 1395 D>E No ExAC
TOPMed
gnomAD
rs2061520105 1395 D>Y No TOPMed
rs2108252781 1396 E>V No Ensembl
rs2062129759 1397 I>L No TOPMed
rs759608802 1397 I>T No ExAC
TOPMed
gnomAD
rs770113483 1398 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs200295956 1400 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200295956 1400 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3846060
COSM3846061
rs775145320
1400 R>W Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM6095916
COSM6095915
1402 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1693375
COSM1693376
1406 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1048418653 1410 Y>H No TOPMed
rs2062132467 1413 K>Q No Ensembl
rs761877603 1417 R>K No ExAC
gnomAD
TCGA novel 1420 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755706470 1423 L>M No ExAC
TOPMed
gnomAD
rs778043500 1428 L>I No ExAC
gnomAD
rs781743389 1437 G>R No ExAC
gnomAD
rs745913088 1440 K>R No ExAC
COSM4402950
COSM4402951
1441 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1443 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1450 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1277059683 1453 A>V No gnomAD
rs774277207 1455 D>G No ExAC
gnomAD
COSM3914787
COSM3914786
1455 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1284394701 1457 M>I No gnomAD
rs748039238 1457 M>V No ExAC
gnomAD
rs773247077 1459 V>L No ExAC
gnomAD
rs1262030959 1460 S>N No gnomAD
rs1450490876 1461 M>R No gnomAD
TCGA novel 1466 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1561116630 1466 D>N No Ensembl
rs1561116630 1466 D>Y No Ensembl
rs753934958 1467 E>K No ExAC
gnomAD
rs753934958 1467 E>Q No ExAC
gnomAD
rs1426047052 1470 D>Y No TOPMed
rs1294563766 1471 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1334882900 1472 Q>R No TOPMed
gnomAD
rs1197488396 1473 G>E No gnomAD
rs2063069457 1473 G>R No gnomAD
rs779153128 1474 E>V No ExAC
gnomAD
rs1481612331 1476 I>V No gnomAD
rs752921197 1477 L>I No ExAC
gnomAD
rs1255270266 1486 P>A No gnomAD
rs758552417 1486 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs746838131 1488 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2063072134
COSM1037483
COSM1037481
1491 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs781157532 1491 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM1037487
COSM1037489
1494 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1037484
rs2063072358
COSM1037486
1494 R>W Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1577376236 1495 E>G No Ensembl
rs774869083 1496 R>Q No ExAC
gnomAD
rs1302616639 1496 R>W No TOPMed
gnomAD
rs1264301330 1497 H>D No Ensembl
rs1264301330 1497 H>Y No Ensembl
rs761165982 1503 I>T No ExAC
rs773625957 1503 I>V No ExAC
gnomAD
rs2063075269 1504 S>A No Ensembl
rs866008860 1506 V>I No gnomAD
COSM3800984
COSM3800983
1508 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752730760 1512 K>R No ExAC
gnomAD
COSM3586611
COSM3586610
1514 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758633178 1515 S>T No ExAC
gnomAD
rs529612300 1517 H>R No 1000Genomes
ExAC
gnomAD
rs751347515 1517 H>Y No ExAC
gnomAD
rs1421803746 1518 T>A No TOPMed
gnomAD
rs780998165
COSM460929
COSM460928
1518 T>M cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1421803746 1518 T>P No TOPMed
gnomAD
rs1376459832 1519 K>I No gnomAD
COSM3586612
COSM3586613
1530 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1238125303 1532 G>C No gnomAD
rs1179323692 1533 V>L No gnomAD
rs1179323692 1533 V>M No gnomAD
COSM4112966
COSM4112965
1534 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1163436733 1537 V>L No TOPMed
gnomAD
rs1163436733 1537 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs942398849 1540 D>E No TOPMed
gnomAD
rs868845385 1540 D>N No Ensembl
rs2063143512 1541 P>A No TOPMed
COSM3914789
COSM3914788
1541 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1542 C>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs774429172 1545 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1327915
COSM1327914
1549 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762012859 1549 G>R No ExAC
gnomAD
rs373617742 1550 R>C No ESP
ExAC
TOPMed
gnomAD
rs750192369 1550 R>H No ExAC
gnomAD
rs1291696798 1551 T>I No TOPMed
gnomAD
rs1577381973 1551 T>P No Ensembl
rs2108443806 1559 V>A No Ensembl
rs753674413 1559 V>L No ExAC
gnomAD
rs753674413 1559 V>M No ExAC
gnomAD
TCGA novel 1564 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM6162906
rs1033137258
COSM1536149
COSM1536150
COSM6162905
1564 N>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs760985257 1565 I>T No ExAC
gnomAD
rs766018442 1567 T>I No ExAC
gnomAD
rs759377501 1569 Q>H No ExAC
gnomAD
rs1428416626 1569 Q>R No TOPMed
COSM1037493
rs1433794431
COSM1037495
1573 K>E Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1377489600 1574 N>S No gnomAD
rs1415679291 1575 I>V No TOPMed
gnomAD
rs201046827
COSM3586614
COSM3586615
1576 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs752223174 1576 R>L No ExAC
gnomAD
rs752223174 1576 R>Q No ExAC
gnomAD
rs2063312108 1577 E>D No TOPMed
rs2063312413 1578 V>L No TOPMed
rs772381582 1579 I>V No Ensembl
rs1420922134 1581 E>Q No TOPMed
gnomAD
rs1211103304 1584 I>V No gnomAD
rs933531951 1585 H>Q No TOPMed
rs1260633172 1587 K>E No gnomAD
rs1062749 1588 G>E No Ensembl
rs1577395393 1589 A>T No Ensembl
TCGA novel 1590 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2063315311 1592 E>* No TOPMed
rs1444718625 1594 L>F No TOPMed
gnomAD
rs1242625916 1598 K>E No gnomAD
rs2063316404 1598 K>R No TOPMed
COSM1418501
COSM1418502
1599 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758030428 1606 N>S No ExAC
TOPMed
gnomAD
COSM1536148
COSM1536147
COSM6162904
rs2063317509
COSM6162903
1607 S>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
TOPMed
gnomAD
rs2063317509 1607 S>T No TOPMed
gnomAD
TCGA novel 1609 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1274907269 1610 D>G No gnomAD
rs1274907269 1610 D>V No gnomAD
rs1161615057 1611 G>R No gnomAD
rs1468485736 1612 V>G No Ensembl
rs1577440555 1613 E>G No Ensembl
rs1577440650 1614 D>G No Ensembl
rs867890492 1614 D>N No Ensembl
COSM4112969
COSM4112968
rs2063846138
1619 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1417424509 1620 D>A No gnomAD
rs1417424509
COSM4837420
COSM4837421
1620 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs780940425
COSM479334
COSM479335
1620 D>N kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1417424509 1620 D>V No gnomAD
rs1577440877 1622 S>G No Ensembl
rs754133728 1622 S>N No ExAC
TOPMed
gnomAD
rs755291078 1623 S>T No ExAC
gnomAD
rs2063847788 1625 P>L No gnomAD
rs2063847788 1625 P>Q No gnomAD
rs2063849172 1627 T>P No Ensembl
rs779284875 1627 T>S No ExAC
gnomAD
rs772578254 1629 S>C No ExAC
TOPMed
gnomAD
rs772578254 1629 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs747178985 1630 I>F No ExAC
gnomAD
rs747178985 1630 I>L No ExAC
gnomAD
rs369574031 1631 A>S No ESP
ExAC
TOPMed
gnomAD
rs369574031 1631 A>T No ESP
ExAC
TOPMed
gnomAD
rs2063850980 1632 S>C No TOPMed
rs1354441367 1633 R>M No gnomAD
rs2063851929 1635 S>F No TOPMed
rs2063852167 1640 D>G No TOPMed
rs2063852397 1641 S>G No Ensembl
rs746100366 1641 S>R No ExAC
gnomAD
TCGA novel 1642 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs186739814 1644 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186739814 1644 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1172262971 1645 S>F No Ensembl
rs1448856576 1647 G>R No gnomAD
rs761264541 1648 C>Y No ExAC
gnomAD
rs368090212 1649 E>K No ESP
ExAC
TOPMed
gnomAD
rs755227447 1650 L>M No ExAC
TOPMed
gnomAD
rs1342404641 1650 L>P No gnomAD
TCGA novel 1650 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072237556 1651 T>R No gnomAD
rs779047572 1654 L>F No ExAC
TOPMed
gnomAD
rs779047572 1654 L>I No ExAC
TOPMed
gnomAD
rs1277783302 1655 Q>R No TOPMed
gnomAD
rs1473708533 1656 D>N No Ensembl
rs2072238872 1658 S>N No TOPMed
gnomAD
rs976640084 1659 A>T No TOPMed
gnomAD
rs769031992
COSM3057683
1659 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777576720 1660 G>C No ExAC
TOPMed
gnomAD
rs777576720 1660 G>R No ExAC
TOPMed
gnomAD
rs781613761 1662 S>R No TOPMed
gnomAD
rs539171441 1664 E>K No gnomAD
rs576618251 1667 I>L No 1000Genomes
ExAC
gnomAD
rs1404637724 1667 I>S No gnomAD
rs2072241783 1668 Q>K No Ensembl
rs2072242014 1668 Q>L No Ensembl
rs757199913 1669 V>M No ExAC
gnomAD
rs2072242784 1670 G>E No Ensembl
COSM3586623 1670 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3927344
rs375684753
1672 T>M Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375684753 1672 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3586624
rs774954951
1673 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1040378811 1674 E>Q No TOPMed
gnomAD
rs937409791 1676 L>P No Ensembl
rs748997964 1677 E>G No ExAC
gnomAD
rs372360457 1678 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368179672 1678 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
gnomAD
rs2072245965 1679 P>S No TOPMed
rs544705578 1680 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM727771 1681 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3914790
rs776744233
1681 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752824553 1682 R>P No ExAC
TOPMed
gnomAD
rs752824553 1682 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1418505
rs748367644
1682 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758651833 1683 P>S No ExAC
gnomAD
rs1478502383 1684 G>D No gnomAD
rs763819696 1684 G>R No ExAC
TOPMed
gnomAD
rs1158043091 1686 C>R No gnomAD
rs745837958 1689 R>C No ExAC
TOPMed
gnomAD
COSM1037499
rs1439137300
1689 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs202002851 1690 T>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1192024161 1691 T>I No Ensembl
COSM1757068
rs368604430
1692 E>K urinary_tract [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs371408668 1693 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374734060 1693 R>Q No ESP
ExAC
TOPMed
gnomAD
rs371408668 1693 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1468030129 1694 S>G No gnomAD
rs747421477 1694 S>N No ExAC
gnomAD
rs771544833 1694 S>R No ExAC
TOPMed
gnomAD
rs78202770 1695 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78202770 1695 P>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1362281273 1696 P>S No gnomAD
rs1366431825 1697 L>F No Ensembl
rs1309846713 1698 E>K No TOPMed
gnomAD
rs2072254524 1698 E>V No Ensembl
rs775653956 1699 G>D No ExAC
TOPMed
gnomAD
RCV001527348
rs775653956
1699 G>V No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1701 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1484531 1702 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764339645 1702 P>S No ExAC
gnomAD
rs764339645 1702 P>T No ExAC
gnomAD
rs1358010223
COSM6095914
COSM581288
1703 S>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs540920510 1705 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767329081 1706 L>P No ExAC
gnomAD
rs1381969149 1706 L>V No TOPMed
rs138275414 1710 H>Y No Ensembl
rs868216680 1711 S>F No Ensembl
COSM6162902 1712 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369690103 1712 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1327700759 1714 S>N No gnomAD
rs373473712 1714 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3057689
RCV001356442
rs201338676
1715 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1334041254 1716 E>A No gnomAD
rs145432562 1717 M>L No Ensembl
rs2072260090 1717 M>T No Ensembl
rs781624752 1718 D>G No ExAC
TOPMed
gnomAD
rs771385123 1718 D>Y No ExAC
gnomAD
rs746304761 1721 F>L No ExAC
TOPMed
gnomAD
rs770391355 1722 P>L No 1000Genomes
ExAC
gnomAD
rs377555886 1723 L>M No ESP
ExAC
TOPMed
gnomAD
rs1186947816 1723 L>S No TOPMed
gnomAD
rs1186947816 1723 L>W No TOPMed
gnomAD
rs1182966361 1724 V>M No gnomAD
rs769832888 1726 D>V No ExAC
gnomAD
rs775528206 1727 A>T No ExAC
gnomAD
rs902354649 1727 A>V No TOPMed
rs1470478157 1728 Y>H No TOPMed
gnomAD
rs762802448 1730 H>D No ExAC
TOPMed
gnomAD
rs762802448 1730 H>N No ExAC
TOPMed
gnomAD
rs762802448 1730 H>Y No ExAC
TOPMed
gnomAD
rs2149830440 1732 S>L No Ensembl
rs78260191 1733 S>C No Ensembl
COSM1418507
rs78260191
COSM1418506
1733 S>G large_intestine [Cosmic] No cosmic curated
Ensembl
rs773788884 1733 S>N No ExAC
gnomAD
rs367903538 1733 S>R No ESP
ExAC
TOPMed
gnomAD
rs200603405 1734 E>K No ExAC
TOPMed
gnomAD
COSM1418508
COSM1418509
1735 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759848460 1736 G>R No ExAC
gnomAD
rs1389263997 1737 G>C No gnomAD
rs765624928 1737 G>D No ExAC
gnomAD
COSM3586627
COSM3586626
1737 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753183084 1738 K>E No ExAC
TOPMed
gnomAD
rs1413978253 1738 K>N No gnomAD
rs758846084 1738 K>R No ExAC
TOPMed
gnomAD
rs1419236808 1739 S>F No gnomAD
rs145880669 1740 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs781614121 1742 V>L No ExAC
TOPMed
gnomAD
rs781614121 1742 V>M No ExAC
TOPMed
gnomAD
rs530459271 1743 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs768540751 1744 N>S No ExAC
gnomAD
rs768540751 1744 N>T No ExAC
gnomAD
rs2149831116 1746 Q>P No Ensembl
rs2080894083 1747 A>G No Ensembl
rs761274205 1747 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1372715997 1748 Q>* No gnomAD
rs2080894747 1750 S>F No TOPMed
TCGA novel 1750 S>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1578496982 1752 N>T No Ensembl
rs1463368738 1753 S>C No TOPMed
gnomAD
rs1463368738 1753 S>F No TOPMed
gnomAD
rs1343154479 1754 I>L No TOPMed
gnomAD
rs1390990891 1754 I>M No gnomAD
rs1190353237 1754 I>T No gnomAD
rs760328888 1756 S>I No ExAC
TOPMed
gnomAD
rs760328888 1756 S>N No ExAC
TOPMed
gnomAD
rs753063935 1757 S>C No ExAC
TOPMed
gnomAD
rs753063935 1757 S>Y No ExAC
TOPMed
gnomAD
rs2080897596 1758 P>A No gnomAD
rs145875180 1758 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751637871 1759 G>R No ExAC
gnomAD
TCGA novel 1760 P>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2149831796 1760 P>S No Ensembl
rs1321688218 1761 K>R No gnomAD
rs757363589 1762 R>C No ExAC
TOPMed
gnomAD
COSM312130
COSM312131
rs1232010971
1762 R>H lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1232010971 1762 R>L No gnomAD
rs1232010971 1762 R>P No gnomAD
rs2080899982 1765 N>K No TOPMed
rs375116917 1767 L>V No ESP
ExAC
gnomAD
rs1327051082 1769 K>* No gnomAD
rs1327051082 1769 K>E No gnomAD
rs754674010 1772 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs779890939 1772 T>S No ExAC
TOPMed
gnomAD
rs2080902154 1774 P>S No Ensembl
COSM203253
COSM203254
rs1241849175
1776 R>C Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
COSM26590
COSM5439359
rs368927353
1776 R>H kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1418511
COSM1418510
rs368927353
1776 R>L large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1241849175 1776 R>S No 1000Genomes
TOPMed
rs1410358187 1777 R>Q No gnomAD
rs1158608009 1777 R>W No gnomAD
TCGA novel 1778 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772725306 1780 S>R No ExAC
rs770637844 1781 G>R No ExAC
TOPMed
gnomAD
COSM727770
COSM727769
1782 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763277006 1783 A>S No ExAC
TOPMed
gnomAD
COSM3586631
COSM3586630
rs2080905525
1785 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs558315603 1786 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1405000476 1787 I>N No gnomAD
rs111238042 1790 Q>R No ESP
ExAC
TOPMed
gnomAD
rs752107116 1791 K>N No Ensembl
rs2080906689 1792 K>R No gnomAD
rs1326487416 1793 V>A No TOPMed
gnomAD
rs143334749
COSM1161442
COSM1161441
1794 R>C Variant assessed as Somatic; MODERATE impact. skin haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148384593 1794 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148384593 1794 R>P No ESP
ExAC
TOPMed
gnomAD
rs1176240567 1795 D>G No gnomAD
rs754110701 1795 D>N No ExAC
TOPMed
gnomAD
rs2080909176 1796 G>C No Ensembl
rs1292286156 1796 G>V No gnomAD
rs778776390 1797 R>G No ExAC
gnomAD
rs201792111 1797 R>L No ESP
ExAC
TOPMed
gnomAD
COSM4112975
COSM4112976
rs201792111
1797 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778776390 1797 R>W No ExAC
gnomAD
rs758392093 1799 S>I No ExAC
TOPMed
gnomAD
rs2080910697 1800 F>C No Ensembl
rs777264253 1803 G>A No ExAC
gnomAD
TCGA novel 1804 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1407824265 1807 P>A No TOPMed
rs543842940 1808 G>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs770595671 1808 G>R No ExAC
TOPMed
gnomAD
rs2080912952 1809 D>N No gnomAD
rs2080913288 1810 E>K No TOPMed
rs1187453433 1811 T>K No TOPMed
gnomAD
rs2080914251 1813 P>S No TOPMed
rs768843442 1815 G>R No ExAC
gnomAD
rs376017889 1817 S>R No ESP
ExAC
TOPMed
gnomAD
rs768175968 1818 A>T No ExAC
TOPMed
gnomAD
rs2080915947 1819 D>E No Ensembl
rs376876751 1819 D>G No ESP
ExAC
TOPMed
gnomAD
rs1383167036 1821 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs1257169358 1822 S>N No TOPMed
gnomAD
rs1257169358 1822 S>T No TOPMed
gnomAD
rs1227408257 1824 K>N No gnomAD
rs1266338957 1825 G>D No gnomAD
rs2081065023 1826 W>* No Ensembl
rs2081065240 1827 G>S No Ensembl
TCGA novel 1827 G>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2081065432 1828 E>D No Ensembl
rs751723982 1831 P>L No ExAC
TOPMed
gnomAD
COSM1037504
rs751723982
COSM1037502
1831 P>R Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2081066351 1832 D>V No Ensembl
COSM1037507
COSM1037505
1834 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1482338156 1837 T>S No TOPMed
gnomAD
rs56375410 1845 I>V No ExAC
TOPMed
gnomAD
rs1187137767 1846 F>L No gnomAD
rs371623469 1848 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1467572793 1849 D>E No TOPMed
gnomAD
rs575776197 1849 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs575776197 1849 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs544279723 1850 P>A No 1000Genomes
ExAC
gnomAD
rs2081069167 1850 P>L No TOPMed
gnomAD
TCGA novel 1857 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2081450308 1857 S>T No Ensembl
rs1317836614 1858 S>F No gnomAD
rs1270580232 1858 S>T No TOPMed
gnomAD
rs778280357 1859 L>W No ExAC
gnomAD
COSM727768
COSM727767
1860 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs55755864 1861 A>S No ESP
ExAC
TOPMed
gnomAD
rs565356196 1862 A>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs746394553 1863 R>Q No ExAC
TOPMed
gnomAD
rs534581552 1863 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs2081455077 1864 Q>E No TOPMed
COSM273651
COSM273650
1864 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775561803 1864 Q>R No ExAC
gnomAD
rs34157843 1865 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34157843 1865 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1266199993 1865 A>V No TOPMed
rs761619140 1868 E>D No ExAC
gnomAD
rs773995262 1868 E>V No ExAC
gnomAD
rs767244430 1870 P>L No ExAC
TOPMed
gnomAD
rs767244430 1870 P>R No ExAC
TOPMed
gnomAD
rs1304009551 1870 P>S No gnomAD
rs1408093008 1871 T>A No gnomAD
rs148492046 1871 T>I No ESP
ExAC
TOPMed
gnomAD
rs2081459813 1872 A>T No TOPMed
rs1214010728 1873 A>T No TOPMed
TCGA novel 1873 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1316711148 1874 D>N No Ensembl
rs760698252 1875 L>F No ExAC
TOPMed
gnomAD
rs753467573 1876 V>A No ExAC
gnomAD
rs1561488984 1876 V>I No Ensembl
rs1561488984 1876 V>L No Ensembl
rs142702465 1877 N>S No ESP
ExAC
TOPMed
gnomAD
rs150997940 1879 I>T No ESP
TOPMed
rs764993437 1879 I>V No ExAC
TOPMed
gnomAD
rs2081463404 1882 L>F No Ensembl
rs1578537821 1883 V>A No Ensembl
rs2081463750 1884 K>R No Ensembl
rs1482437325 1886 K>E No TOPMed
gnomAD
COSM1536141
COSM1536142
rs116780710
1886 K>N lung [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM6162900
COSM6162899
1886 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs114877509 1887 L>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1287344716 1887 L>P No TOPMed
gnomAD
rs1453800220 1888 S>R No gnomAD
rs780489184 1889 L>P No ExAC
TOPMed
gnomAD
rs780489184 1889 L>Q No ExAC
TOPMed
gnomAD
rs2083329393 1890 E>G No Ensembl
COSM3914794
COSM3914793
1891 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083329829 1892 S>N No TOPMed
rs56098940 1893 S>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs56098940 1893 S>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201749166 1894 Y>C No 1000Genomes
TOPMed
gnomAD
rs2083330558 1894 Y>H No Ensembl
COSM727766
rs772252798
COSM727765
1895 R>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772252798 1895 R>Q No ExAC
TOPMed
gnomAD
rs150257895
COSM3781068
COSM3781067
1895 R>W Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1204032635 1896 G>A No TOPMed
gnomAD
rs1204032635 1896 G>E No TOPMed
gnomAD
VAR_035625 1897 S>C a breast cancer sample; somatic mutation [UniProt] No UniProt
rs746853235 1898 L>M No ExAC
TOPMed
gnomAD
rs2083333025 1901 P>S No TOPMed
rs759552317 1902 A>G No ExAC
rs776670607 1902 A>S No ExAC
TOPMed
gnomAD
rs1337477189 1903 G>A No TOPMed
gnomAD
rs1337477189 1903 G>D No TOPMed
gnomAD
rs376489541 1903 G>S No ESP
ExAC
TOPMed
gnomAD
rs898352246 1906 N>S No Ensembl
rs1470563056 1908 G>E No gnomAD
COSM4112977
COSM4112978
1910 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1159110066 1911 P>A No TOPMed
gnomAD
rs762634197 1911 P>L No ExAC
TOPMed
gnomAD
rs762634197 1911 P>R No ExAC
TOPMed
gnomAD
rs762353391 1912 P>H No ExAC
rs762353391 1912 P>R No ExAC
rs763702249 1912 P>S No ExAC
gnomAD
rs766730133 1913 T>I No ExAC
gnomAD
rs1559769637 1914 P>L No Ensembl
rs2083337574 1915 P>A No Ensembl
rs755492318 1915 P>L No ExAC
gnomAD
COSM3722227
COSM3722228
1915 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779043939 1916 K>E No ExAC
gnomAD
rs2046669240 1917 N>D No Ensembl
rs909288140 1918 P>L No TOPMed
gnomAD
rs909288140 1918 P>R No TOPMed
gnomAD
TCGA novel
rs2083339400
1921 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
TCGA novel 1924 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1925 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2083340126 1926 A>D No Ensembl
rs2083340600 1927 L>P No TOPMed
rs2083340600 1927 L>R No TOPMed
rs770782461 1927 L>V No ExAC
gnomAD
rs1020068848 1928 R>S No Ensembl
rs745789056 1929 G>D No ExAC
TOPMed
gnomAD
rs781148073 1929 G>S No ExAC
gnomAD
rs745789056 1929 G>V No ExAC
TOPMed
gnomAD
COSM1037511
COSM1037513
1930 R>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs35298864
RCV000949264
VAR_057190
1930 R>M No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs547281807 1931 M>I No Ensembl
rs1271086984 1931 M>T No TOPMed
gnomAD
rs372024978 1931 M>V No ESP
ExAC
rs2083923606 1932 F>S No TOPMed
TCGA novel 1933 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1184218137 1933 V>I No TOPMed
gnomAD
rs1184218137 1933 V>L No TOPMed
gnomAD
rs1370276338 1938 V>A No TOPMed
TCGA novel 1939 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1443433944 1940 T>S No TOPMed
gnomAD
rs755958107 1943 D>E No ExAC
TOPMed
gnomAD
rs1386781370 1943 D>G No TOPMed
gnomAD
rs2083926327 1943 D>H No TOPMed
rs768092038 1945 V>A No ExAC
TOPMed
gnomAD
rs749251959 1945 V>I No ExAC
TOPMed
gnomAD
rs773904610 1946 K>E No ExAC
TOPMed
gnomAD
rs989523251 1947 D>H No TOPMed
COSM382297
COSM382298
rs989523251
1947 D>Y lung [Cosmic] No cosmic curated
TOPMed
TCGA novel 1948 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2083929834 1948 L>P No Ensembl
rs1394002227 1949 G>D No TOPMed
gnomAD
rs747791697 1951 V>A No ExAC
TOPMed
gnomAD
rs1243570148 1951 V>L No gnomAD
rs142800005 1952 V>L No ESP
ExAC
TOPMed
gnomAD
rs142800005 1952 V>M No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1953 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1249638976 1953 E>G No gnomAD
rs776961555 1953 E>Q No ExAC
gnomAD
COSM3586632
COSM3586633
1954 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1037519
COSM1037517
1955 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4845678
COSM4845677
1957 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2084209193 1958 R>S No TOPMed
rs959010171 1959 I>M No Ensembl
rs772703622 1959 I>T No ExAC
TOPMed
gnomAD
rs746682116 1961 E>Q No ExAC
TOPMed
gnomAD
rs1277816274 1962 K>E No TOPMed
rs769995775 1962 K>N No ExAC
gnomAD
rs1193327605 1963 G>R No gnomAD
rs1193327605 1963 G>S No gnomAD
rs200997995 1967 D>G No 1000Genomes
rs775981309 1967 D>H No ExAC
TOPMed
gnomAD
rs775981309 1967 D>N No ExAC
TOPMed
gnomAD
rs1644906492 1969 R>G No Ensembl
rs186931113 1969 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1466957492 1970 G>E No TOPMed
gnomAD
rs2084214743 1970 G>R No TOPMed
rs2084216065 1972 D>G No Ensembl
rs2084216511 1973 K>R No gnomAD
rs2084216966 1974 I>L No Ensembl
rs537115296 1975 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1287328692 1975 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs775018855 1976 F>L No ExAC
gnomAD
rs761942959 1977 G>A No ExAC
gnomAD
rs761942959 1977 G>E No ExAC
gnomAD
rs1225823582 1979 I>V No gnomAD
rs372617720 1980 H>R No ESP
ExAC
TOPMed
gnomAD
rs2084220850 1981 Q>K No Ensembl
rs761015860 1984 D>E No ExAC
gnomAD
rs2084221753 1985 W>* No gnomAD
TCGA novel 1986 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3586634
COSM3586635
1987 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1258546519 1988 D>A No TOPMed
gnomAD
rs754027509 1988 D>E No ExAC
gnomAD
rs1258546519 1988 D>G No TOPMed
gnomAD
rs1279734937 1988 D>H No TOPMed
gnomAD
rs1279734937 1988 D>N No TOPMed
gnomAD
rs1258546519 1988 D>V No TOPMed
gnomAD
rs1480241441 1989 F>I No gnomAD
rs1480241441 1989 F>L No gnomAD
rs1480241441 1989 F>V No gnomAD
rs779211349 1990 F>I No gnomAD
rs765021406 1991 L>M No ExAC
gnomAD
rs765021406 1991 L>V No ExAC
gnomAD
rs138911697 1992 A>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138911697 1992 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777148067 1996 K>R No ExAC
TOPMed
gnomAD
TCGA novel 1999 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs112835381 2000 E>G No Ensembl
rs2084263431 2002 D>E No Ensembl
rs1303884980 2005 A>P No gnomAD
rs1303884980 2005 A>T No gnomAD
rs2084264781 2007 L>H No TOPMed
rs1045333047 2011 H>L No TOPMed
gnomAD
rs751124475 2011 H>Y No ExAC
gnomAD
rs780400062 2013 R>Q No ExAC
TOPMed
gnomAD
rs755893667 2013 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1472924614 2014 K>Q No TOPMed
rs748571994 2015 L>V No ExAC
gnomAD
rs758711235 2016 H>D No ExAC
gnomAD
rs1244557879 2016 H>P No TOPMed
rs1244557879 2016 H>R No TOPMed
COSM4112981
COSM4112982
2016 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1037522
COSM1037520
2017 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs139149462 2019 V>L No ESP
ExAC
TOPMed
gnomAD
rs139149462 2019 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1259077338 2021 Y>C No TOPMed
gnomAD
rs200637679 2023 Q>E No Ensembl
rs2084376232 2023 Q>R No Ensembl
rs1184376917 2025 K>R No gnomAD
rs775246399 2026 P>L No ExAC
gnomAD
rs149923815 2027 R>C No ESP
ExAC
TOPMed
gnomAD
RCV000921806
rs144160219
2027 R>H No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs56106611
RCV000954402
2028 S>A No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1408688930 2028 S>L No gnomAD
rs749992756 2030 Y>C No ExAC
gnomAD
rs61745758 2031 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376402588 2031 I>V No ESP
ExAC
TOPMed
gnomAD
rs147771207 2032 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758725005 2033 A>T No ExAC
TOPMed
gnomAD
rs778013452 2033 A>V No ExAC
gnomAD
rs757771267 2034 E>D No ExAC
TOPMed
gnomAD
rs1325403601 2034 E>V No gnomAD
rs544425646 2037 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs769887578 2037 A>S No ExAC
TOPMed
gnomAD
rs769887578 2037 A>T No ExAC
TOPMed
gnomAD
rs2150203057 2041 E>G No Ensembl
rs1345311075 2041 E>K No gnomAD
rs1345311075 2041 E>Q No gnomAD
rs2084523139 2042 V>I No Ensembl
rs1423420623 2046 I>T No gnomAD
rs780163028 2047 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1366932646 2049 R>G No gnomAD
rs141343989 2049 R>K No TOPMed
rs2084525420 2052 L>P No TOPMed
rs2084526432 2055 F>L No gnomAD
rs778745851 2055 F>L No ExAC
gnomAD
rs2150203508 2056 L>F No Ensembl
rs1402663574 2057 I>S No TOPMed
gnomAD
rs747849348 2058 K>N No ExAC
gnomAD
rs2084527666 2058 K>R No gnomAD
rs2084528167 2059 P>A No gnomAD
rs1310226964 2063 I>V No gnomAD
rs1170536705 2064 T>A No TOPMed
rs772022707 2064 T>I No ExAC
TOPMed
gnomAD
rs772022707 2064 T>K No ExAC
TOPMed
gnomAD
rs772022707 2064 T>R No ExAC
TOPMed
gnomAD
rs2084530697 2067 Q>E No gnomAD
COSM6162893
COSM6162894
2067 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150203886 2068 L>F No Ensembl
rs1460269844 2072 D>E No gnomAD
rs2084791742 2074 L>R No Ensembl
rs2084792075 2075 R>K No TOPMed
rs199799341 2075 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1184944926 2077 S>N No TOPMed
gnomAD
rs1479521774 2078 E>G No TOPMed
rs987476258 2080 A>S No TOPMed
gnomAD
rs987476258 2080 A>T No TOPMed
gnomAD
rs924219935 2080 A>V No Ensembl
TCGA novel 2084 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2084795229 2084 C>R No Ensembl
rs868092366 2085 S>L No Ensembl
rs935592383 2087 I>T No Ensembl
rs1248246339 2088 E>K No gnomAD
rs1578751516 2088 E>V No Ensembl
rs1383772875 2090 A>S No Ensembl
rs754944438 2091 V>M No ExAC
gnomAD
COSM727764
COSM727763
2092 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1378011596 2094 M>I No TOPMed
gnomAD
rs1181851356 2094 M>T No TOPMed
gnomAD
rs2084917724 2094 M>V No gnomAD
rs1453242530 2095 C>G No TOPMed
gnomAD
rs752955221 2096 L>F No ExAC
gnomAD
rs1224035274 2098 P>A No TOPMed
gnomAD
rs140557803 2100 R>C No ESP
ExAC
TOPMed
gnomAD
rs759225248 2100 R>H No ExAC
TOPMed
gnomAD
rs746851048 2102 N>K No ExAC
gnomAD
rs2084920493 2102 N>S No TOPMed
rs1212562099 2103 D>E No gnomAD
rs1258798240 2103 D>G No gnomAD
rs757102532 2103 D>N No ExAC
TOPMed
gnomAD
rs757102532 2103 D>Y No ExAC
TOPMed
gnomAD
COSM1037525
COSM1037523
2104 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1209315006 2104 M>T No gnomAD
rs1485404830 2104 M>V No TOPMed
gnomAD
rs2084922545
COSM419865
COSM419864
2105 M>I urinary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs780956100 2105 M>K No ExAC
gnomAD
TCGA novel 2107 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1237812399 2109 R>C No gnomAD
rs527332843 2109 R>H No 1000Genomes
ExAC
gnomAD
rs1488983759 2110 L>R No gnomAD
rs748906244 2111 Q>R No ExAC
gnomAD
rs1489825689 2112 G>A No TOPMed
gnomAD
rs1489825689 2112 G>V No TOPMed
gnomAD
COSM4760978
COSM4760979
2114 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1325890592 2115 G>D No TOPMed
gnomAD
rs1325890592 2115 G>V No TOPMed
gnomAD
rs2085638333 2116 T>I No TOPMed
rs2150311142 2117 L>P No Ensembl
rs2085638978 2118 T>N No TOPMed
rs201108531 2120 Q>R No 1000Genomes
ExAC
gnomAD
rs1216557962 2121 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1290476215 2124 L>V No gnomAD
rs560018785 2127 D>E No 1000Genomes
ExAC
gnomAD
rs970560022 2128 T>I No Ensembl
rs139843692 2130 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2085642289 2130 Y>H No Ensembl
rs201076232 2131 V>M No ExAC
TOPMed
gnomAD
rs762156107 2132 I>T No ExAC
TOPMed
gnomAD
rs267599584
COSM1037528
COSM1037526
2133 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs267599584 2133 E>Q No TOPMed
gnomAD
rs750279317 2134 L>P No ExAC
gnomAD
rs750279317 2134 L>R No ExAC
gnomAD
rs2085644608 2134 L>V No Ensembl
rs1407815919 2135 D>E No TOPMed
gnomAD
COSM4910436
COSM4910437
2135 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1173463640 2137 G>D No gnomAD
rs1427219151 2137 G>S No gnomAD
rs1469670718 2138 M>I No gnomAD
rs779922674 2138 M>T No ExAC
TOPMed
gnomAD
TCGA novel 2139 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs950729303 2140 S>C No Ensembl
rs2085647103 2140 S>P No Ensembl
rs368791560 2141 R>L No ESP
ExAC
TOPMed
gnomAD
rs368791560 2141 R>P No ESP
ExAC
TOPMed
gnomAD
rs368791560 2141 R>Q No ESP
ExAC
TOPMed
gnomAD
rs573768804 2141 R>W No ExAC
TOPMed
gnomAD
rs1028914518 2142 T>S No TOPMed
rs138817318 2143 K>E No ESP
ExAC
TOPMed
gnomAD
rs2150311978 2143 K>N No Ensembl
rs138817318 2143 K>Q No ESP
ExAC
TOPMed
gnomAD
rs770314288 2144 E>D No ExAC
TOPMed
gnomAD
rs776077977 2146 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs149338497 2146 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149338497 2146 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144745311 2147 V>M No ESP
ExAC
TOPMed
gnomAD
rs761915647 2150 F>L No ExAC
TOPMed
gnomAD
rs2085651376 2150 F>S No gnomAD
rs1484942723 2151 E>G No gnomAD
rs767728290 2151 E>K No ExAC
TOPMed
gnomAD
rs767728290 2151 E>Q No ExAC
TOPMed
gnomAD
rs1425022225 2152 Q>* No gnomAD
rs961834888 2153 I>T No TOPMed
gnomAD
rs760450028 2153 I>V No ExAC
TOPMed
gnomAD
rs2085654708 2154 V>A No TOPMed
rs1461817118 2154 V>I No TOPMed
gnomAD
rs2085654976 2155 I>V No Ensembl
TCGA novel 2160 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2161 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1404148966 2162 K>N No TOPMed
gnomAD
COSM3586637
COSM3586636
2163 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1415754327 2167 P>L No TOPMed
gnomAD
rs1446455434 2168 G>A No TOPMed
gnomAD
rs1028131001 2170 M>I No TOPMed
gnomAD
rs753761954 2170 M>K No ExAC
TOPMed
gnomAD
rs1344082922 2170 M>L No gnomAD
rs753761954 2170 M>T No ExAC
TOPMed
gnomAD
TCGA novel 2172 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2173 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377746113 2173 R>T No ESP
ExAC
TOPMed
gnomAD
rs1251712700 2174 S>G No TOPMed
rs1222850890 2175 I>T No TOPMed
gnomAD
rs2085660281 2176 K>E No gnomAD
rs2085660526 2176 K>R No Ensembl
rs1056954426 2177 M>I No TOPMed
gnomAD
rs2085724449 2180 L>F No TOPMed
rs2085724878 2181 V>I No TOPMed
rs751214264 2183 E>A No ExAC
gnomAD
rs199695356 2184 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs749616690 2185 N>D No ExAC
gnomAD
rs754198426 2186 V>A No Ensembl
rs1222867114 2187 D>H No gnomAD
rs757843330 2188 N>S No ExAC
gnomAD
rs1181605841 2189 D>H No gnomAD
rs1181605841 2189 D>N No gnomAD
rs2085728644 2190 P>L No TOPMed
COSM3914796
COSM3914795
2190 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2085728351 2190 P>T No Ensembl
rs375121715 2191 C>Y No ESP
ExAC
gnomAD
rs2085729129 2192 K>Q No TOPMed
gnomAD
rs1290140312 2193 F>Y No TOPMed
gnomAD
rs2085729837 2194 A>S No TOPMed
rs748614645 2194 A>V No ExAC
TOPMed
gnomAD
rs1245358663 2195 L>F No TOPMed
rs1245358663 2195 L>I No TOPMed
rs2085731333 2196 M>K No Ensembl
rs773232245 2196 M>L No ExAC
gnomAD
rs2085731333 2196 M>T No Ensembl
rs773232245 2196 M>V No ExAC
gnomAD
rs2085731616
COSM673902
COSM673903
2198 R>K endometrium [Cosmic] No cosmic curated
TOPMed
rs2085731882 2199 E>Q No TOPMed
rs747200936 2200 T>N No ExAC
TOPMed
gnomAD
rs2085732449 2202 E>K No Ensembl
rs1161360237 2203 R>G No TOPMed
gnomAD
rs771193440 2203 R>T No ExAC
TOPMed
gnomAD
rs1279189490 2204 V>A No gnomAD
rs759288506 2205 V>F No ExAC
gnomAD
rs759288506 2205 V>I No ExAC
gnomAD
rs762859959 2207 Q>* No ExAC
gnomAD
rs751074018 2209 A>S No ExAC
TOPMed
gnomAD
rs751074018 2209 A>T No ExAC
TOPMed
gnomAD
rs963442699 2210 N>S No Ensembl
rs767235200 2211 A>T No ExAC
TOPMed
gnomAD
rs750102941 2214 Q>H No ExAC
gnomAD
rs755333342 2215 Q>R No ExAC
gnomAD
rs140660780 2216 A>T No ESP
ExAC
TOPMed
gnomAD
rs1459380119 2216 A>V No gnomAD
rs1200127122 2218 V>M No gnomAD
rs2085739595 2220 D>H No TOPMed
gnomAD
rs1183875716 2221 I>T No TOPMed
gnomAD
rs1468332959 2222 N>H No Ensembl
rs777886239 2222 N>K No ExAC
TOPMed
gnomAD
rs758868856 2222 N>S No ExAC
TOPMed
gnomAD
rs2085741408 2226 E>D No TOPMed
rs2085741694 2227 T>A No gnomAD
rs1473046966 2228 Q>E No gnomAD
rs1439864563 2228 Q>R No TOPMed
rs1167272064 2229 R>G No gnomAD
RCV001356748
rs747043605
2229 R>Q No ClinVar
ExAC
dbSNP
gnomAD
rs1467048641 2230 D>E No TOPMed
gnomAD
rs746104897 2231 F>C No ExAC
gnomAD
rs771030176 2231 F>I No ExAC
TOPMed
gnomAD
rs771030176 2231 F>L No ExAC
TOPMed
gnomAD
rs769621632 2231 F>L No ExAC
gnomAD
rs775218572 2232 L>S No ExAC
gnomAD
rs775218572 2232 L>W No ExAC
gnomAD
rs2085745104 2233 N>D No TOPMed
rs753559897 2237 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs753559897 2237 S>W No ExAC
gnomAD
rs948871324 2238 P>L No Ensembl
rs2086470046 2238 P>S No TOPMed
rs757831396 2239 I>T No ExAC
TOPMed
gnomAD
rs752049201 2239 I>V No ExAC
gnomAD
rs750520760 2240 E>G No ExAC
TOPMed
gnomAD
rs767555973 2240 E>K No ExAC
gnomAD
rs750520760 2240 E>V No ExAC
TOPMed
gnomAD
rs374234847 2243 R>L No ESP
ExAC
TOPMed
gnomAD
rs374234847 2243 R>P No ESP
ExAC
TOPMed
gnomAD
rs374234847 2243 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780069173 2243 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1355250729 2244 K>Q No TOPMed
gnomAD
rs2086474906 2245 E>G No TOPMed
COSM3586638
COSM3586639
2245 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1566301
COSM1566302
2246 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2086475179 2247 S>N No Ensembl
rs2150371471 2251 M>T No Ensembl
rs748067012 2252 R>M No ExAC
gnomAD
rs748067012 2252 R>T No ExAC
gnomAD
rs1487366324 2253 S>C No gnomAD
rs1578853129 2254 Q>H No Ensembl
rs1192756407 2254 Q>L No TOPMed
gnomAD
rs1192756407 2254 Q>R No TOPMed
gnomAD
TCGA novel 2255 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1439244084 2255 P>R No gnomAD
rs143835330 2255 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143835330 2255 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773304128 2256 A>S No ExAC
TOPMed
gnomAD
rs940946966 2256 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1215135367 2257 R>K No TOPMed
TCGA novel 2257 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs746462251 2257 R>S No ExAC
TOPMed
gnomAD
rs2086480760 2259 P>L No TOPMed
rs1163467077 2259 P>S No TOPMed
gnomAD
rs1578853499 2261 A>V No Ensembl
rs1294450209 2262 S>N No TOPMed
gnomAD
rs1396235480 2262 S>R No gnomAD
rs377636885 2263 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774741290 2264 R>K No ExAC
rs767967212 2265 P>H No ExAC
TOPMed
gnomAD
rs146809556
COSM99071
2265 P>S stomach [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSM3586643
COSM3586642
2268 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756086389 2269 V>F No ExAC
TOPMed
gnomAD
rs1265751212 2270 P>L No gnomAD
COSM1693383
COSM1693384
rs139050770
2270 P>S skin [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs753999093 2271 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 2274 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1432415544 2274 E>Q No TOPMed
rs747901386 2276 P>T No ExAC
TOPMed
gnomAD
rs746980775 2277 P>L No ExAC
TOPMed
gnomAD
rs746980775 2277 P>Q No ExAC
TOPMed
gnomAD
rs777786497 2277 P>S No ExAC
TOPMed
gnomAD
rs2086490026 2278 K>E No Ensembl
rs770335571 2279 G>S No ExAC
gnomAD
rs776273508 2279 G>V No ExAC
gnomAD
rs2086491475 2280 S>P No TOPMed
gnomAD
rs745481870 2282 Y>C No ExAC
gnomAD
rs2150372961 2283 N>K No Ensembl
rs1328834626 2284 P>S No gnomAD
COSM1037534
COSM1037532
2284 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1301681501 2285 P>L No gnomAD
rs775150045 2285 P>S No ExAC
gnomAD
rs2086492912 2286 L>M No Ensembl
rs574388819 2288 P>L No gnomAD
rs1265356828 2288 P>S No TOPMed
rs767877274 2291 I>T No ExAC
gnomAD
rs773576120 2292 S>P No ExAC
TOPMed
gnomAD
rs773576120 2292 S>T No ExAC
TOPMed
gnomAD
rs1259772811 2294 S>F No gnomAD
rs1259772811 2294 S>Y No gnomAD
rs761308468 2295 N>D No ExAC
TOPMed
gnomAD
rs766337334 2295 N>S No ExAC
TOPMed
gnomAD
rs140582792 2296 G>C No ExAC
TOPMed
gnomAD
rs759710043 2296 G>D No ExAC
gnomAD
rs759710043 2296 G>V No ExAC
gnomAD
rs545817282 2297 S>R No gnomAD
rs1293385472 2299 G>E No TOPMed
gnomAD
rs1263153578 2299 G>R No gnomAD
rs1293385472 2299 G>V No TOPMed
gnomAD
rs752973251 2300 F>L No ExAC
TOPMed
gnomAD
TCGA novel 2301 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758210307 2302 Y>F No ExAC
TOPMed
gnomAD
rs1412610252 2303 H>Y No TOPMed
gnomAD
rs777683651 2305 P>H No ExAC
TOPMed
gnomAD
rs35653635 2306 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2086501870 2307 D>G No TOPMed
rs957429915 2307 D>N No Ensembl
rs745336547 2308 K>E No ExAC
TOPMed
gnomAD
rs769328981 2309 F>L No ExAC
TOPMed
gnomAD
rs1010135527 2309 F>L No TOPMed
gnomAD
COSM232568
RCV000889933
COSM232569
rs142947301
2310 E>K skin [Cosmic] No cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2086503569 2311 A>T No TOPMed
rs2086503897 2312 S>N No gnomAD
rs1324038181 2312 S>R No gnomAD
rs2086504609 2313 K>N No TOPMed
gnomAD
rs1219425319 2314 Q>H No gnomAD
rs565585638 2315 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs936955573 2316 D>E No TOPMed
COSM3586646
rs775753465
COSM3586647
2316 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2086900578 2318 G>E No gnomAD
rs763247639
COSM3728122
COSM3728121
2318 G>R Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
rs1285442067 2319 G>C No gnomAD
rs1358371082 2319 G>D No gnomAD
rs2086902522 2320 C>F No Ensembl
rs184999164 2320 C>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 2320 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1291099153 2321 N>K No gnomAD
rs774472087 2321 N>S No ExAC
TOPMed
gnomAD
rs370369188 2323 T>I No ESP
ExAC
TOPMed
gnomAD
rs767269208 2324 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1379141731 2324 S>P No gnomAD
rs756081490 2325 S>C No ExAC
gnomAD
rs558112961 2326 M>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs558112961 2326 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs373630403 2328 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1441897453 2330 K>Q No gnomAD
rs1429302725 2332 Y>C No TOPMed
gnomAD
rs1308886788 2333 Y>C No TOPMed
gnomAD
rs1559827297 2333 Y>N No Ensembl
rs1374721018 2334 A>V No gnomAD
rs2086908610 2335 L>P No TOPMed
rs778559837 2336 K>T No ExAC
rs1247897277 2339 E>K No gnomAD
rs1242466422 2340 I>T No gnomAD
rs2086909858 2341 C>S No TOPMed
gnomAD
rs2086910105 2342 V>M No TOPMed
rs2086910348 2344 Q>R No Ensembl
rs41264665 2345 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2086911634 2347 V>E No TOPMed
rs1041209235 2348 V>F No TOPMed
gnomAD
rs746348119 2350 V>I No ExAC
gnomAD
rs202061265 2352 A>T No ExAC
TOPMed
gnomAD
COSM269409
COSM269410
rs774580265
2353 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs2086913705 2354 N>D No Ensembl
rs2086913942 2356 Q>R No TOPMed
rs145164918 2358 M>V No ESP
ExAC
TOPMed
gnomAD
rs767344058 2359 C>G No ExAC
gnomAD
rs767344058 2359 C>R No ExAC
gnomAD
rs767344058 2359 C>S No ExAC
gnomAD
rs1578877701 2362 Y>S No Ensembl
TCGA novel 2364 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773051646 2366 S>C No ExAC
TOPMed
gnomAD
rs1578877837 2367 D>A No Ensembl
rs953197853 2367 D>E No TOPMed
gnomAD
COSM3914798
COSM3914797
rs760479725
2367 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1319825943 2368 H>P No gnomAD
rs1327922356 2368 H>Y No TOPMed
rs368115319 2370 P>L No ESP
ExAC
TOPMed
gnomAD
rs1389202113 2370 P>S No gnomAD
TCGA novel 2371 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs764702445 2371 A>T No ExAC
gnomAD
rs56085806 2371 A>V No ExAC
TOPMed
gnomAD
rs1218462793 2372 A>D No TOPMed
gnomAD
rs1218462793 2372 A>G No TOPMed
gnomAD
rs781679134 2372 A>S No ExAC
TOPMed
gnomAD
rs781679134 2372 A>T No ExAC
TOPMed
gnomAD
rs749778361 2373 E>K No ExAC
gnomAD
rs1285550614 2374 G>A No TOPMed
gnomAD
rs1200150543 2374 G>C No gnomAD
rs1285550614 2374 G>D No TOPMed
gnomAD
rs112911419 2375 W>* No Ensembl
COSM4796349
COSM4796350
2376 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1441404451 2377 P>L No gnomAD
rs1239183045 2378 G>A No gnomAD
rs1239183045 2378 G>D No gnomAD
rs2086924372 2380 I>S No TOPMed
rs143716563 2382 A>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs143716563 2382 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1421213497 2384 L>V No gnomAD
rs770735721 2385 T>I No ExAC
gnomAD
rs1578878687 2385 T>P No Ensembl
rs776608758 2386 K>R No ExAC
gnomAD
rs1401581378 2388 T>A No gnomAD
rs1394405403 2388 T>I No TOPMed
gnomAD
rs759431023 2390 A>V No ExAC
gnomAD
RCV002249067
rs992438028
2392 S>G No ClinVar
TOPMed
dbSNP
gnomAD
rs752205306 2392 S>I No ExAC
TOPMed
gnomAD
rs752205306 2392 S>N No ExAC
TOPMed
gnomAD
rs369924314 2393 S>I No ESP
TOPMed
gnomAD
rs150398770 2395 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756493850 2396 S>I No ExAC
TOPMed
rs756493850 2396 S>N No ExAC
TOPMed
rs2086934592 2397 I>V No Ensembl
rs2086935507 2398 K>Q No Ensembl
rs536434991 2398 K>R No gnomAD
rs2087408550 2399 K>N No gnomAD
rs1436349032 2401 C>R No TOPMed
gnomAD
TCGA novel 2402 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2087409096 2402 S>L No Ensembl
TCGA novel 2403 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775239180 2403 W>R No ExAC
gnomAD
rs1328607696
COSM727755
COSM727756
2404 H>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs371805011 2404 H>P No ESP
ExAC
TOPMed
gnomAD
rs371805011 2404 H>R No ESP
ExAC
TOPMed
gnomAD
rs768245754 2405 T>I No ExAC
TOPMed
gnomAD
COSM1037540
COSM1037538
2406 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1234850146 2406 L>P No gnomAD
rs1319671756 2406 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs747606269
COSM3392005
COSM3392004
2407 R>C Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767013745 2407 R>H No ExAC
TOPMed
gnomAD
rs1196998968 2408 M>V No TOPMed
gnomAD
rs760299802 2410 K>Q No Ensembl
rs35729834 2411 R>L No ESP
ExAC
TOPMed
gnomAD
rs35729834 2411 R>P No ESP
ExAC
TOPMed
gnomAD
rs35729834 2411 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1010276863 2411 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1197217291 2412 A>E No TOPMed
gnomAD
rs1197217291 2412 A>V No TOPMed
gnomAD
rs753171260 2416 N>T No ExAC
TOPMed
gnomAD
rs758971263 2417 T>A No ExAC
gnomAD
rs375472024 2417 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375472024 2417 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1355771288 2418 G>R No TOPMed
gnomAD
rs1355771288 2418 G>S No TOPMed
gnomAD
rs2087418509 2419 K>E No TOPMed
rs1301775659 2420 N>S No gnomAD
rs867470182 2421 E>K No Ensembl
COSM1037543
COSM1037541
2423 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs138278618 2424 G>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs746121650 2425 P>H No ExAC
gnomAD
COSM3914800
COSM3914799
rs576463141
2426 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs576463141 2426 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs779935599 2426 R>H No ExAC
TOPMed
gnomAD
rs779935599 2426 R>L No ExAC
TOPMed
gnomAD
rs2087421557 2427 K>E No TOPMed
rs1308221080 2427 K>N No gnomAD
rs1275428141 2431 I>N No gnomAD
rs768660105 2432 L>V No ExAC
TOPMed
rs2150447483 2434 N>S No Ensembl
rs747623775 2436 V>A No ExAC
gnomAD
rs556441458 2436 V>I No 1000Genomes
ExAC
gnomAD
COSM727751
COSM727752
2438 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369756088 2438 V>L No ESP
ExAC
TOPMed
gnomAD
rs1383181904 2439 K>N No TOPMed
rs1412004657 2439 K>Q No TOPMed
gnomAD
rs766672025 2441 T>M No ExAC
TOPMed
gnomAD
rs754800493 2442 N>I No ExAC
gnomAD
rs2087549057 2442 N>Y No TOPMed
rs752573214 2443 S>G No ExAC
gnomAD
rs1370881839 2443 S>N No gnomAD
rs1448302467 2444 S>Y No gnomAD
COSM4793336
COSM4793337
2445 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1285372467 2449 C>Y No TOPMed
gnomAD
rs2087551473 2450 D>E No TOPMed
rs2087551653 2451 D>Y No TOPMed
TCGA novel 2453 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2087551835 2453 D>N No gnomAD
rs1250804033 2454 P>L No gnomAD
rs1250804033 2454 P>R No gnomAD
rs1220335058 2454 P>S No gnomAD
rs577419294 2456 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs2087553300 2456 T>I No TOPMed
rs746461538 2457 S>C No ExAC
TOPMed
gnomAD
rs746461538 2457 S>G No ExAC
TOPMed
gnomAD
COSM6095910
COSM6095911
2458 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150593804 2460 I>L No Ensembl
rs1213499961 2460 I>T No TOPMed
gnomAD
rs762758916 2461 L>F No ExAC
gnomAD
rs1401602156 2468 E>A No gnomAD
rs747507245 2470 A>T No ExAC
TOPMed
gnomAD
TCGA novel 2475 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs138839944 2476 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2061959988 2477 L>W No Ensembl
rs745901858 2481 T>I No ExAC
TOPMed
gnomAD
rs745901858 2481 T>N No ExAC
TOPMed
gnomAD
rs1559858989 2482 C>Y No Ensembl
TCGA novel 2483 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775758176 2484 L>F No ExAC
TOPMed
gnomAD
rs1052906504 2484 L>P No TOPMed
gnomAD
rs1435006871 2485 G>R No gnomAD
rs1348419996 2486 D>N No TOPMed
gnomAD
rs763771768 2489 I>K No Ensembl
rs763771768 2489 I>R No Ensembl
rs763942950 2491 Q>K No ExAC
TOPMed
gnomAD
rs2061960934 2492 C>R No Ensembl
rs1321364099 2493 K>E No TOPMed
gnomAD
rs2061961116 2494 V>L No TOPMed
rs761606230 2497 R>Q No ExAC
TOPMed
COSM1732382
rs774067123
COSM1732381
2497 R>W NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM75063 2498 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767406418 2498 P>S No ExAC
gnomAD
rs750386686 2499 K>N No ExAC
gnomAD
rs760158908 2500 P>S No ExAC
gnomAD
rs1195538624 2501 T>A No gnomAD
rs370244700 2502 I>M No ESP
TOPMed
gnomAD
COSM3586652
COSM3586653
2504 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2061962120 2506 G>S No TOPMed
rs1439564455 2508 D>E No TOPMed
gnomAD
rs1280921143 2508 D>N No TOPMed
gnomAD
COSM3586655
COSM3586654
2509 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765850843 2509 Q>R No ExAC
gnomAD
rs754646887 2510 N>K No ExAC
TOPMed
gnomAD
rs374016191 2510 N>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1463505475 2511 I>T No TOPMed
gnomAD
rs778641408 2514 T>I No ExAC
gnomAD
rs751906517 2515 D>G No ExAC
TOPMed
gnomAD
rs1343899545 2516 N>D No TOPMed
gnomAD
TCGA novel 2516 N>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757727525 2517 S>G No ExAC
gnomAD
rs1158538180 2518 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs2061963193 2520 T>I No Ensembl
rs1371168724 2521 Y>H No gnomAD
rs1371168724 2521 Y>N No gnomAD
rs781745800 2522 T>M No ExAC
TOPMed
gnomAD
rs865839452 2527 D>G No Ensembl
COSM3586656
COSM3586657
2527 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2062040207 2529 G>A No Ensembl
rs1578998665 2530 E>D No Ensembl
rs781718965 2531 I>N No ExAC
TOPMed
gnomAD
rs781718965 2531 I>T No ExAC
TOPMed
gnomAD
rs1253150430 2532 T>S No gnomAD
TCGA novel 2533 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1210868168 2533 L>V No gnomAD
rs780621634 2535 I>F No ExAC
gnomAD
rs921430834 2535 I>M No Ensembl
rs1476415151 2536 C>S No gnomAD
rs1198782370 2536 C>Y No TOPMed
gnomAD
rs768806315 2538 L>V No ExAC
gnomAD
rs1050115806 2539 M>I No TOPMed
gnomAD
rs1578998887 2541 Q>R No Ensembl
rs867926749 2544 G>R No Ensembl
COSM1418520
COSM1418519
2545 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3586661
COSM3586660
2548 C>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1312237546 2549 I>L No gnomAD
rs1287008238 2553 D>Y No TOPMed
rs2062042450 2555 G>E No Ensembl
rs1293710603
COSM3586662
COSM3586663
2555 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2150618637 2558 S>T No Ensembl
rs148476909 2559 T>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776663754 2559 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1167634983 2561 A>T No TOPMed
gnomAD
rs1359566969 2561 A>V No TOPMed
rs1486954279 2562 T>K No TOPMed
gnomAD
rs1486954279 2562 T>R No TOPMed
gnomAD
rs1241898725
COSM1536136
COSM6162892
COSM1536135
COSM6162891
2563 V>D lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs141643479 2563 V>I No ESP
ExAC
TOPMed
gnomAD
rs2062043685 2565 V>M No TOPMed
rs2062114380 2569 P>S No TOPMed
gnomAD
TCGA novel 2571 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1173155139 2571 A>V No gnomAD
rs1406938418 2573 N>K No gnomAD
rs369528078 2574 R>C No ExAC
TOPMed
gnomAD
rs369528078 2574 R>G No ExAC
TOPMed
gnomAD
COSM4112990
COSM4112989
rs369115824
2574 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 2574 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369528078 2574 R>S No ExAC
TOPMed
gnomAD
rs574569949 2576 I>T No 1000Genomes
ExAC
gnomAD
rs2062115076 2576 I>V No TOPMed
gnomAD
COSM3586664
COSM3586665
2577 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774080841 2578 Q>R No ExAC
gnomAD
rs1373364720 2579 E>K No gnomAD
rs1279533462 2580 R>G No gnomAD
rs878897171 2581 S>C No Ensembl
rs1371833838 2581 S>R No gnomAD
rs2062115965 2582 C>Y No TOPMed
rs766808885 2583 T>I No ExAC
gnomAD
rs1579005936 2583 T>P No Ensembl
rs1329347278 2584 S>Y No gnomAD
rs373744782
COSM272835
COSM272834
2585 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150508568 2588 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374214808 2588 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1232184605 2591 P>S No TOPMed
gnomAD
rs1232184605 2591 P>T No TOPMed
gnomAD
rs371432218 2592 P>A No ESP
ExAC
TOPMed
gnomAD
rs756968542 2592 P>H No ExAC
TOPMed
gnomAD
rs756968542 2592 P>L No ExAC
TOPMed
gnomAD
rs756968542 2592 P>R No ExAC
TOPMed
gnomAD
rs371432218 2592 P>S No ESP
ExAC
TOPMed
gnomAD
rs371432218 2592 P>T No ESP
ExAC
TOPMed
gnomAD
rs2062117704 2593 S>C No TOPMed
gnomAD
rs866229918 2596 G>E No gnomAD
rs1396755586 2597 N>S No gnomAD
rs552227061 2599 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs552227061 2599 T>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs919750972 2600 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs370996133 2604 T>I No ESP
ExAC
TOPMed
gnomAD
rs1355296546 2606 E>G No gnomAD
TCGA novel 2607 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2062119076 2608 R>K No Ensembl
rs373713643 2609 E>D No ESP
ExAC
gnomAD
rs1291109271 2609 E>G No gnomAD
rs2062119367 2610 E>Q No Ensembl
rs2062236324 2613 Q>E No gnomAD
rs756002014 2620 A>S No ExAC
gnomAD
rs747203034 2621 S>L No TOPMed
gnomAD
rs1282330437 2621 S>T No TOPMed
gnomAD
rs762351590
COSM1418522
COSM1418521
2628 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370254434 2629 I>M No ESP
ExAC
TOPMed
gnomAD
rs778547375 2629 I>V No ExAC
gnomAD
rs139538191 2630 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
rs759846493 2631 D>A No ExAC
TOPMed
gnomAD
rs759846493 2631 D>G No ExAC
TOPMed
gnomAD
rs770194151 2632 L>V No ExAC
gnomAD
rs1403413225 2633 S>G No gnomAD
rs374215079 2633 S>N No ESP
ExAC
TOPMed
gnomAD
rs200600368 2634 P>A No TOPMed
gnomAD
rs763517719 2634 P>L No ExAC
gnomAD
rs200600368 2634 P>S No TOPMed
gnomAD
rs948857399 2635 G>A No TOPMed
gnomAD
rs948857399 2635 G>E No TOPMed
gnomAD
COSM273652
rs751599377
COSM273653
2635 G>R Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1347002667 2636 C>Y No gnomAD
rs2062238677 2637 P>L No gnomAD
rs2062238898 2638 Y>F No Ensembl
rs144682399 2639 Q>R No 1000Genomes
ExAC
gnomAD
rs2062239076 2640 F>L No TOPMed
rs1579016988 2643 S>C No Ensembl
rs1046255209 2643 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1046255209 2643 S>T No gnomAD
rs767734817 2644 A>S No ExAC
gnomAD
rs2062239464 2645 S>T No Ensembl
rs766532456 2646 N>I No Ensembl
rs1259844655 2647 P>R No gnomAD
rs2150667645 2647 P>S No 1000Genomes
rs866480769 2649 G>R No Ensembl
rs1189253488 2652 L>F No TOPMed
gnomAD
RCV001529545
rs56320013
2655 E>K No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM6095908
COSM581277
COSM581276
rs754909011
COSM6095909
2657 S>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM3057823
COSM3057822
2658 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1306365931 2659 F>S No TOPMed
gnomAD
rs1458513726 2660 V>L No TOPMed
gnomAD
COSM1670524
COSM1670523
rs1369664710
2661 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
gnomAD
rs143766292 2661 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143766292 2661 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs866554548 2663 P>S No Ensembl
TCGA novel 2663 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2664 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs537142542 2666 D>G No 1000Genomes
ExAC
gnomAD
rs2062242059 2666 D>N No TOPMed
rs1194631241 2667 A>V No gnomAD
rs2062367027 2669 A>V No gnomAD
rs768921250 2670 D>N No ExAC
gnomAD
rs2062367284 2671 G>D No TOPMed
TCGA novel 2671 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774897060 2671 G>S No ExAC
gnomAD
rs2150691712 2672 A>T No Ensembl
rs1206406752 2672 A>V No gnomAD
rs1328909837 2674 I>V No TOPMed
rs1324625533 2675 S>C No TOPMed
rs748640926 2675 S>P No ExAC
TOPMed
rs772181764 2677 K>E No ExAC
gnomAD
COSM4112992
COSM4112991
2678 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3586667
COSM3586666
2678 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 2680 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs899197914 2682 S>T No TOPMed
gnomAD
rs2062368304 2683 A>P No Ensembl
rs773371256 2683 A>V No ExAC
TOPMed
gnomAD
TCGA novel 2686 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1409138684 2686 E>K No TOPMed
TCGA novel 2687 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766672372 2688 N>D No ExAC
TOPMed
gnomAD
TCGA novel 2691 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1303706054 2694 R>C No gnomAD
rs143682793 2694 R>H No ESP
ExAC
gnomAD
rs776962977 2697 I>V No ExAC
TOPMed
gnomAD
rs2062964727 2698 V>E No TOPMed
TCGA novel 2703 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2703 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1343439293 2705 A>D No gnomAD
rs371482945 2707 R>C No ESP
ExAC
TOPMed
gnomAD
rs756112179 2707 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM365251
rs756112179
COSM365252
2707 R>L lung [Cosmic] No cosmic curated
TOPMed
gnomAD
rs2062965467 2708 K>N No TOPMed
rs2062965371 2708 K>R No TOPMed
rs769615739 2709 D>E No ExAC
gnomAD
rs2062965661 2709 D>V No TOPMed
rs2062965553 2709 D>Y No TOPMed
rs867242568 2711 A>D No Ensembl
rs79062158 2712 V>G No ExAC
gnomAD
rs75973551 2713 K>E No ExAC
gnomAD
rs1579076467 2714 F>I No Ensembl
COSM1642073
COSM1642074
2719 M>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1419021575 2719 M>K No TOPMed
rs1249367467
COSM5202873
COSM5202872
2719 M>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TCGA novel 2720 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751516356 2721 K>N No ExAC
TOPMed
gnomAD
rs2062966768 2723 E>D No TOPMed
gnomAD
rs1347875934 2725 A>T No gnomAD
rs2150788620 2726 A>D No Ensembl
rs143920760 2726 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140915036 2730 A>S No ESP
TOPMed
gnomAD
rs140915036 2730 A>T No ESP
TOPMed
gnomAD
rs1579076605 2731 L>P No Ensembl
rs1369128965 2731 L>V No gnomAD
rs1176532387 2734 H>L No TOPMed
gnomAD
rs750083202 2734 H>Q No ExAC
gnomAD
TCGA novel 2735 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1003233948 2735 L>P No Ensembl
rs755667727 2737 H>Y No ExAC
gnomAD
COSM6162890
COSM6162889
2738 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs950996979 2741 I>L No Ensembl
COSM6095907
COSM6095906
2743 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2062968838 2744 H>R No Ensembl
rs779764159 2744 H>Y No ExAC
gnomAD
rs1440814680 2746 T>I No TOPMed
gnomAD
rs146561755 2750 P>A No ESP
ExAC
TOPMed
gnomAD
TCGA novel 2750 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2751 T>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2755 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1315906215 2756 I>V No TOPMed
gnomAD
rs1269478585 2759 L>M No gnomAD
rs930329305 2761 D>H No TOPMed
gnomAD
rs930329305 2761 D>N No TOPMed
gnomAD
rs2063172647 2762 D>G No TOPMed
rs1366351795 2763 G>A No TOPMed
rs2063172800 2764 R>G No gnomAD
COSM1211316
COSM1211315
rs758806191
2764 R>Q large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs778349797 2767 D>E No ExAC
gnomAD
COSM4112993
COSM4112994
2767 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2063173445 2770 M>I No Ensembl
rs757778781 2770 M>T No ExAC
gnomAD
rs2063173534 2771 N>K No TOPMed
rs781723516 2772 H>Q No ExAC
TOPMed
gnomAD
rs2063173721 2775 L>M No Ensembl
rs2150826318 2777 E>K No Ensembl
rs1469880870 2779 K>R No gnomAD
COSM3586669
COSM3586668
rs200993632
2780 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
TCGA novel 2782 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1232087424 2783 Y>H No gnomAD
rs745892459 2784 I>T No ExAC
gnomAD
rs201835992 2785 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373541267 2785 R>Q No ESP
ExAC
TOPMed
gnomAD
rs865932760 2788 M>I No Ensembl
rs768434968 2788 M>T No ExAC
TOPMed
gnomAD
rs377011587 2788 M>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 2789 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1406460321 2789 E>Q No TOPMed
gnomAD
COSM1243332
COSM1243331
2792 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs943310108 2792 Q>K No TOPMed
gnomAD
COSM4112996
COSM4112995
2792 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1411994764 2793 Y>C No TOPMed
gnomAD
rs747943551 2796 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs771866378 2799 V>F No ExAC
gnomAD
rs771866378 2799 V>I No ExAC
gnomAD
rs572242981 2801 H>Y No Ensembl
TCGA novel 2802 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753876534 2812 D>G No ExAC
gnomAD
rs926477357 2813 L>V No TOPMed
gnomAD
rs779085925 2814 R>Q No ExAC
TOPMed
gnomAD
rs755074404 2814 R>W No ExAC
gnomAD
rs752956591 2815 I>V No ExAC
gnomAD
rs867893767 2819 R>* No Ensembl
rs2063294343 2819 R>Q No TOPMed
rs2063294538 2822 L>I No Ensembl
rs1330456087 2826 E>* No gnomAD
rs770837121 2832 S>* No ExAC
TOPMed
gnomAD
rs770837121 2832 S>L No ExAC
TOPMed
gnomAD
rs2063295254 2832 S>T No TOPMed
rs1454110867 2833 G>R No TOPMed
gnomAD
rs1454110867 2833 G>S No TOPMed
gnomAD
rs1559891345 2835 F>L No TOPMed
rs1365393077 2835 F>S No TOPMed
gnomAD
rs1579104507 2839 H>P No Ensembl
rs2063295906 2839 H>Y No TOPMed
rs2150845305 2845 E>A No Ensembl
COSM727746
COSM727745
2846 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 2847 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4112997
COSM4112998
2848 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2063296337 2849 P>L No TOPMed
rs2063296562 2851 V>I No Ensembl
rs2063296562 2851 V>L No Ensembl
rs373436261 2857 V>I No ESP
ExAC
TOPMed
gnomAD
rs1047463289 2860 G>E No TOPMed
rs1378621086 2860 G>R No gnomAD
TCGA novel 2862 D>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2063297350 2867 G>R No TOPMed
rs2150845616 2873 M>I No Ensembl
rs2150845665 2877 V>I No 1000Genomes
TCGA novel 2880 F>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs941220413 2882 D>G No Ensembl
COSM3586677
COSM3586676
2882 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150845837 2887 E>D No Ensembl
rs759580809 2887 E>K No ExAC
gnomAD
rs112771126 2888 T>I No Ensembl
rs752905629 2889 C>Y No ExAC
TOPMed
gnomAD
COSM1037553
COSM1037555
rs904131570
2892 V>I Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs904131570 2892 V>L No TOPMed
gnomAD
COSM3392006
COSM3392007
2894 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1536131
COSM1536132
2894 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2150846043 2895 V>M No Ensembl
TCGA novel 2898 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1001116641 2898 S>T No TOPMed
gnomAD
rs1487776594 2899 F>Y No gnomAD
rs2063299540 2901 H>D No Ensembl
rs1559891628 2901 H>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs751326872 2901 H>R No ExAC
gnomAD
rs1579105087 2903 Y>S No Ensembl
COSM1037558
COSM1037556
rs757021659
2904 F>I Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs781248712 2905 C>R No ExAC
TOPMed
gnomAD
TCGA novel 2905 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2906 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1050387621 2907 V>L No TOPMed
rs1409264332 2909 N>H No TOPMed
gnomAD
rs1473384350 2909 N>S No gnomAD
rs146977122 2910 A>S No ESP
ExAC
TOPMed
gnomAD
rs146977122 2910 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs267599585 2910 A>V No Ensembl
COSM6162887
COSM6162888
2911 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 2911 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1456325978 2912 R>T No gnomAD
rs2063300685 2913 D>Y No TOPMed
gnomAD
TCGA novel 2917 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779767633 2917 V>G No ExAC
gnomAD
rs1295283373 2917 V>L No gnomAD
rs1408920905 2920 Q>R No gnomAD
COSM3914804
COSM3914803
rs184120997
2921 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 2922 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs138111643 2923 F>V No ESP
ExAC
COSM1037564
COSM1037562
2924 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773899376 2924 R>Q No ExAC
gnomAD
rs889918445
COSM4113000
COSM4112999
2924 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
COSM1037567
COSM1037565
rs761079499
2926 R>W Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs2063301425 2927 P>R No gnomAD
rs2150846727 2928 T>S No Ensembl
rs1312051017 2929 A>T No gnomAD
rs1388812717 2930 A>S No Ensembl
rs2063301657 2931 T>A No Ensembl
rs771326367 2932 C>S No ExAC
gnomAD
TCGA novel 2935 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777119108 2936 P>S No ExAC
rs1007277124 2940 P>L No TOPMed
gnomAD
rs1007277124 2940 P>R No TOPMed
gnomAD
rs2063302381 2942 N>D No Ensembl
rs56410073 2944 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1579105531 2945 Y>H No Ensembl
rs61742365 2946 S>F No Ensembl
TCGA novel 2947 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs891159734 2948 I>L No TOPMed
gnomAD
rs762977163 2948 I>M No ExAC
gnomAD
rs1579105590 2948 I>T No Ensembl
rs2150847110 2949 P>H No Ensembl
rs2063303058 2950 L>V No Ensembl
TCGA novel 2950 L>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs764326162 2952 T>A No ExAC
gnomAD
rs1166296826 2952 T>I No gnomAD
rs764326162 2952 T>P No ExAC
gnomAD
rs2063303503 2954 R>C No Ensembl
rs1559891981
COSM727743
COSM727744
2954 R>H lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs1181671916 2958 F>L No TOPMed
rs2063304007 2959 I>V No Ensembl
COSM3800990
COSM3800989
2960 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 2961 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1484533
rs1368942316
COSM1484532
2961 R>H Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 2961 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1383359664
COSM3586683
COSM3586682
2962 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM376401
rs144099513
COSM376402
2962 R>H lung large_intestine [Cosmic] No cosmic curated
ESP
ExAC
gnomAD
rs1331799203 2964 H>L No gnomAD
rs767482749 2966 N>S No ExAC
gnomAD
rs1430635505 2967 D>H No gnomAD
rs2063304786 2968 V>A No TOPMed
rs756057258 2969 R>Q No ExAC
TOPMed
gnomAD
rs201528333 2969 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2063305140 2971 I>T No Ensembl
rs1397822018 2971 I>V No gnomAD
rs2063305222 2972 P>A No Ensembl
COSM3586684
COSM3586685
2972 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs16835896 2973 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1365077553 2975 K>R No gnomAD
rs1343390519 2976 S>I No TOPMed
gnomAD
rs1343390519 2976 S>N No TOPMed
gnomAD
rs754497724 2977 Y>C No ExAC
gnomAD
rs2063306052 2978 I>V No TOPMed
gnomAD
COSM3748211
COSM3748210
2979 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778598503 2980 N>K No ExAC
gnomAD
rs2063306138 2980 N>S No Ensembl
rs747822809 2981 R>L No ExAC
TOPMed
gnomAD
rs747822809 2981 R>Q No ExAC
TOPMed
gnomAD
rs957655134 2981 R>W No TOPMed
gnomAD
rs2063306537 2984 Q>E No TOPMed
rs201184140 2984 Q>R No ESP
ExAC
TOPMed
gnomAD
rs776926854 2986 T>M No ExAC
TOPMed
gnomAD
rs776926854 2986 T>R No ExAC
TOPMed
gnomAD
rs2063307089 2987 T>Q No TOPMed
rs2063307172 2987 T>W No TOPMed

No associated diseases with O60229

26 regional properties for O60229

Type Name Position InterPro Accession
domain Dbl homology (DH) domain 1281 - 1456 IPR000219-1
domain Dbl homology (DH) domain 1929 - 2104 IPR000219-2
domain Protein kinase domain 2684 - 2938 IPR000719
domain CRAL-TRIO lipid binding domain 35 - 181 IPR001251
domain SH3 domain 1646 - 1711 IPR001452-1
domain SH3 domain 2321 - 2386 IPR001452-2
domain Pleckstrin homology domain 1468 - 1582 IPR001849-1
domain Pleckstrin homology domain 2116 - 2228 IPR001849-2
repeat Spectrin repeat 311 - 414 IPR002017-1
repeat Spectrin repeat 540 - 640 IPR002017-2
repeat Spectrin repeat 891 - 998 IPR002017-3
repeat Spectrin repeat 1132 - 1227 IPR002017-4
domain Immunoglobulin subtype 2 2483 - 2555 IPR003598
domain Immunoglobulin subtype 2477 - 2566 IPR003599
domain Fibronectin type III 2569 - 2665 IPR003961
domain Immunoglobulin-like domain 2471 - 2564 IPR007110
active_site Serine/threonine-protein kinase, active site 2799 - 2811 IPR008271
domain Immunoglobulin I-set 2471 - 2565 IPR013098
binding_site Protein kinase, ATP binding site 2690 - 2713 IPR017441
repeat Spectrin/alpha-actinin 190 - 536 IPR018159-1
repeat Spectrin/alpha-actinin 537 - 766 IPR018159-2
repeat Spectrin/alpha-actinin 891 - 1129 IPR018159-3
repeat Spectrin/alpha-actinin 1133 - 1235 IPR018159-4
domain Kalirin/Triple functional domain protein, SH3 domain 1 1649 - 1708 IPR028570
domain Kalirin/Triple functional domain protein, SH3 domain 2 2325 - 2383 IPR047053
domain Kalirin/Triple functional domain protein, pleckstrin homology (PH) domain 1 1461 - 1583 IPR047054

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, cytoskeleton
  • Associated with the cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extrinsic component of membrane The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
metal ion binding Binding to a metal ion.
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions

8 GO annotations of biological process

Name Definition
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
ephrin receptor signaling pathway The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q86YR7 MCF2L2 Probable guanine nucleotide exchange factor MCF2L2 Homo sapiens (Human) SS
O75962 TRIO Triple functional domain protein Homo sapiens (Human) EV
Q86VW2 ARHGEF25 Rho guanine nucleotide exchange factor 25 Homo sapiens (Human) EV
P10911 MCF2 Proto-oncogene DBL Homo sapiens (Human) EV
O15068 MCF2L Guanine nucleotide exchange factor DBS Homo sapiens (Human) SS
Q0KL02 Trio Triple functional domain protein Mus musculus (Mouse) SS
Q64096 Mcf2l Guanine nucleotide exchange factor DBS Mus musculus (Mouse) SS
A2CG49 Kalrn Kalirin Mus musculus (Mouse) SS
F1M0Z1 Trio Triple functional domain protein Rattus norvegicus (Rat) SS
Q63406 Mcf2l Guanine nucleotide exchange factor DBS Rattus norvegicus (Rat) SS
P97924 Kalrn Kalirin Rattus norvegicus (Rat) SS
Q1LUA6 trio Triple functional domain protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MTDRFWDQWY LWYLRLLRLL DRGSFRNDGL KASDVLPILK EKVAFVSGGR DKRGGPILTF
70 80 90 100 110 120
PARSNHDRIR QEDLRKLVTY LASVPSEDVC KRGFTVIIDM RGSKWDLIKP LLKTLQEAFP
130 140 150 160 170 180
AEIHVALIIK PDNFWQKQKT NFGSSKFIFE TSMVSVEGLT KLVDPSQLTE EFDGSLDYNH
190 200 210 220 230 240
EEWIELRLSL EEFFNSAVHL LSRLEDLQEM LARKEFPVDV EGSRRLIDEH TQLKKKVLKA
250 260 270 280 290 300
PVEELDREGQ RLLQCIRCSD GFSGRNCIPG SADFQSLVPK ITSLLDKLHS TRQHLHQMWH
310 320 330 340 350 360
VRKLKLDQCF QLRLFEQDAE KMFDWISHNK ELFLQSHTEI GVSYQYALDL QTQHNHFAMN
370 380 390 400 410 420
SMNAYVNINR IMSVASRLSE AGHYASQQIK QISTQLDQEW KSFAAALDER STILAMSAVF
430 440 450 460 470 480
HQKAEQFLSG VDAWCKMCSE GGLPSEMQDL ELAIHHHQTL YEQVTQAYTE VSQDGKALLD
490 500 510 520 530 540
VLQRPLSPGN SESLTATANY SKAVHQVLDV VHEVLHHQRR LESIWQHRKV RLHQRLQLCV
550 560 570 580 590 600
FQQDVQQVLD WIENHGEAFL SKHTGVGKSL HRARALQKRH DDFEEVAQNT YTNADKLLEA
610 620 630 640 650 660
AEQLAQTGEC DPEEIYKAAR HLEVRIQDFV RRVEQRKLLL DMSVSFHTHT KELWTWMEDL
670 680 690 700 710 720
QKEMLEDVCA DSVDAVQELI KQFQQQQTAT LDATLNVIKE GEDLIQQLRS APPSLGEPSE
730 740 750 760 770 780
ARDSAVSNNK TPHSSSISHI ESVLQQLDDA QVQMEELFHE RKIKLDIFLQ LRIFEQYTIE
790 800 810 820 830 840
VTAELDAWNE DLLRQMNDFN TEDLTLAEQR LQRHTERKLA MNNMTFEVIQ QGQDLHQYIT
850 860 870 880 890 900
EVQASGIELI CEKDIDLAAQ VQELLEFLHE KQHELELNAE QTHKRLEQCL QLRHLQAEVK
910 920 930 940 950 960
QVLGWIRNGE SMLNASLVNA SSLSEAEQLQ REHEQFQLAI ESLFHATSLQ KTHQSALQVQ
970 980 990 1000 1010 1020
QKAEVLLQAG HYDADAIREC AEKVALHWQQ LMLKMEDRLK LVNASVAFYK TSEQVCSVLE
1030 1040 1050 1060 1070 1080
SLEQEYRRDE DWCGGRDKLG PAAEIDHVIP LISKHLEQKE AFLKACTLAR RNAEVFLKYI
1090 1100 1110 1120 1130 1140
HRNNVSMPSV ASHTRGPEQQ VKAILSELLQ RENRVLHFWT LKKRRLDQCQ QYVVFERSAK
1150 1160 1170 1180 1190 1200
QALDWIQETG EFYLSTHTST GETTEETQEL LKEYGEFRVP AKQTKEKVKL LIQLADSFVE
1210 1220 1230 1240 1250 1260
KGHIHATEIR KWVTTVDKHY RDFSLRMGKY RYSLEKALGV NTEDNKDLEL DIIPASLSDR
1270 1280 1290 1300 1310 1320
EVKLRDANHE VNEEKRKSAR KKEFIMAELL QTEKAYVRDL HECLETYLWE MTSGVEEIPP
1330 1340 1350 1360 1370 1380
GILNKEHIIF GNIQEIYDFH NNIFLKELEK YEQLPEDVGH CFVTWADKFQ MYVTYCKNKP
1390 1400 1410 1420 1430 1440
DSNQLILEHA GTFFDEIQQR HGLANSISSY LIKPVQRITK YQLLLKELLT CCEEGKGELK
1450 1460 1470 1480 1490 1500
DGLEVMLSVP KKANDAMHVS MLEGFDENLD VQGELILQDA FQVWDPKSLI RKGRERHLFL
1510 1520 1530 1540 1550 1560
FEISLVFSKE IKDSSGHTKY VYKNKLLTSE LGVTEHVEGD PCKFALWSGR TPSSDNKTVL
1570 1580 1590 1600 1610 1620
KASNIETKQE WIKNIREVIQ ERIIHLKGAL KEPLQLPKTP AKQRNNSKRD GVEDIDSQGD
1630 1640 1650 1660 1670 1680
GSSQPDTISI ASRTSQNTVD SDKLSGGCEL TVVLQDFSAG HSSELTIQVG QTVELLERPS
1690 1700 1710 1720 1730 1740
ERPGWCLVRT TERSPPLEGL VPSSALCISH SRSSVEMDCF FPLVKDAYSH SSSENGGKSE
1750 1760 1770 1780 1790 1800
SVANLQAQPS LNSIHSSPGP KRSTNTLKKW LTSPVRRLNS GKADGNIKKQ KKVRDGRKSF
1810 1820 1830 1840 1850 1860
DLGSPKPGDE TTPQGDSADE KSKKGWGEDE PDEESHTPLP PPMKIFDNDP TQDEMSSSLL
1870 1880 1890 1900 1910 1920
AARQASTEVP TAADLVNAIE KLVKNKLSLE GSSYRGSLKD PAGCLNEGMA PPTPPKNPEE
1930 1940 1950 1960 1970 1980
EQKAKALRGR MFVLNELVQT EKDYVKDLGI VVEGFMKRIE EKGVPEDMRG KDKIVFGNIH
1990 2000 2010 2020 2030 2040
QIYDWHKDFF LAELEKCIQE QDRLAQLFIK HERKLHIYVW YCQNKPRSEY IVAEYDAYFE
2050 2060 2070 2080 2090 2100
EVKQEINQRL TLSDFLIKPI QRITKYQLLL KDFLRYSEKA GLECSDIEKA VELMCLVPKR
2110 2120 2130 2140 2150 2160
CNDMMNLGRL QGFEGTLTAQ GKLLQQDTFY VIELDAGMQS RTKERRVFLF EQIVIFSELL
2170 2180 2190 2200 2210 2220
RKGSLTPGYM FKRSIKMNYL VLEENVDNDP CKFALMNRET SERVVLQAAN ADIQQAWVQD
2230 2240 2250 2260 2270 2280
INQVLETQRD FLNALQSPIE YQRKERSTAV MRSQPARLPQ ASPRPYSSVP AGSEKPPKGS
2290 2300 2310 2320 2330 2340
SYNPPLPPLK ISTSNGSPGF EYHQPGDKFE ASKQNDLGGC NGTSSMAVIK DYYALKENEI
2350 2360 2370 2380 2390 2400
CVSQGEVVQV LAVNQQNMCL VYQPASDHSP AAEGWVPGSI LAPLTKATAA ESSDGSIKKS
2410 2420 2430 2440 2450 2460
CSWHTLRMRK RAEVENTGKN EATGPRKPKD ILGNKVSVKE TNSSEESECD DLDPNTSMEI
2470 2480 2490 2500 2510 2520
LNPNFIQEVA PEFLVPLVDV TCLLGDTVIL QCKVCGRPKP TITWKGPDQN ILDTDNSSAT
2530 2540 2550 2560 2570 2580
YTVSSCDSGE ITLKICNLMP QDSGIYTCIA TNDHGTTSTS ATVKVQGVPA APNRPIAQER
2590 2600 2610 2620 2630 2640
SCTSVILRWL PPSSTGNCTI SGYTVEYREE GSQIWQQSVA STLDTYLVIE DLSPGCPYQF
2650 2660 2670 2680 2690 2700
RVSASNPWGI SLPSEPSEFV RLPEYDAAAD GATISWKENF DSAYTELNEI GRGRFSIVKK
2710 2720 2730 2740 2750 2760
CIHKATRKDV AVKFVSKKMK KKEQAAHEAA LLQHLQHPQY ITLHDTYESP TSYILILELM
2770 2780 2790 2800 2810 2820
DDGRLLDYLM NHDELMEEKV AFYIRDIMEA LQYLHNCRVA HLDIKPENLL IDLRIPVPRV
2830 2840 2850 2860 2870 2880
KLIDLEDAVQ ISGHFHIHHL LGNPEFAAPE VIQGIPVSLG TDIWSIGVLT YVMLSGVSPF
2890 2900 2910 2920 2930 2940
LDESKEETCI NVCRVDFSFP HEYFCGVSNA ARDFINVILQ EDFRRRPTAA TCLQHPWLQP
2950 2960 2970 2980
HNGSYSKIPL DTSRLACFIE RRKHQNDVRP IPNVKSYIVN RVNQGT