Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for O14981

Entry ID Method Resolution Chain Position Source
AF-O14981-F1 Predicted AlphaFoldDB

1008 variants for O14981

Variant ID(s) Position Change Description Diseaes Association Provenance
CA5601032
rs768069784
2 A>T No ClinGen
ExAC
gnomAD
rs868092926
CA211455950
2 A>V No ClinGen
gnomAD
CA377560715
rs1286130257
3 V>I No ClinGen
gnomAD
CA377560744
rs1477946216
5 R>G No ClinGen
TOPMed
gnomAD
rs1163129849
CA377564926
7 D>E No ClinGen
TOPMed
rs1589748079
CA377564904
7 D>H No ClinGen
Ensembl
rs765162182
COSM1349790
CA5601059
8 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs200229615
CA5601060
COSM274174
8 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780598583
CA5601061
11 I>V No ClinGen
ExAC
gnomAD
TCGA novel 16 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1481045707
CA377565142
20 V>I No ClinGen
gnomAD
CA5601065
rs748942135
24 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA377565273
rs1268633480
26 A>S No ClinGen
TOPMed
rs1264811815
CA377565477
34 K>N No ClinGen
gnomAD
rs1487107342
CA377565558
38 H>L No ClinGen
gnomAD
CA377565555
rs1487107342
38 H>R No ClinGen
gnomAD
rs1194692747
CA377565548
38 H>Y No ClinGen
gnomAD
CA5601069
rs769162033
41 N>H No ClinGen
ExAC
gnomAD
CA5601070
rs776591753
41 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA377565647
rs1434742833
42 N>S No ClinGen
gnomAD
rs761943267
CA5601071
42 N>Y No ClinGen
ExAC
TOPMed
rs769863082
CA5601072
45 S>P No ClinGen
ExAC
CA377567114
rs763116213
49 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs771118743
CA5601096
49 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA5601095
rs763116213
49 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA377567190
rs1312930742
55 N>D No ClinGen
gnomAD
CA377567198
rs1323156940
55 N>S No ClinGen
gnomAD
rs774030044
CA5601097
69 I>V No ClinGen
ExAC
gnomAD
CA377567536
rs1474346203
70 V>M No ClinGen
TOPMed
rs759432445
CA5601098
71 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 72 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767210025
CA5601099
73 V>A No ClinGen
ExAC
gnomAD
CA211433413
rs372049991
73 V>I No ClinGen
ESP
gnomAD
rs775606231
CA5601100
74 P>A No ClinGen
ExAC
gnomAD
rs1176710978
CA377567718
77 N>Y No ClinGen
gnomAD
TCGA novel 78 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601102
rs763716240
80 P>L No ClinGen
ExAC
gnomAD
TCGA novel 81 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377568427
rs765617555
86 P>A No ClinGen
TOPMed
rs765617555
CA211434821
86 P>S No ClinGen
TOPMed
rs868633654
CA211434822
88 S>F No ClinGen
Ensembl
CA377568496
rs1445225795
89 E>A No ClinGen
gnomAD
rs950040547
CA211434823
89 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs775373054
CA5601120
90 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA377568564
rs1401553180
92 M>T No ClinGen
gnomAD
rs199538823
CA5601121
92 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377568657
rs1219715994
96 P>A No ClinGen
TOPMed
gnomAD
CA377568660
rs1219715994
96 P>S No ClinGen
TOPMed
gnomAD
rs927358272
CA211434850
98 T>A No ClinGen
Ensembl
COSM279213
rs1313990753
CA377568719
100 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA211434878
rs984584811
102 N>S No ClinGen
TOPMed
CA5601126
rs750142443
104 D>A No ClinGen
ExAC
gnomAD
rs1247837161
CA377568797
105 R>T No ClinGen
TOPMed
rs752993328
CA5601129
110 R>S No ClinGen
ExAC
gnomAD
CA377568900
rs1589763947
114 H>R No ClinGen
Ensembl
CA377568896
rs1288400463
114 H>Y No ClinGen
TOPMed
rs150594399
CA211434927
115 G>D No ClinGen
ESP
CA5601131
rs368980046
116 A>V No ClinGen
ESP
ExAC
gnomAD
rs749754196
CA5601132
117 S>L No ClinGen
ExAC
gnomAD
rs1366300626
CA377568923
118 L>H No ClinGen
gnomAD
CA377568940
rs1412216501
121 S>F No ClinGen
gnomAD
rs1460611268
CA377568948
123 G>S No ClinGen
TOPMed
gnomAD
rs1360685927
CA377568956
124 A>T No ClinGen
gnomAD
rs376933322
CA5601134
125 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5601135
rs746121749
128 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5601136
rs746121749
128 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 133 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309945122
CA377570684
134 G>V No ClinGen
TOPMed
gnomAD
CA377570685
rs1564667125
135 E>K No ClinGen
Ensembl
CA5601153
rs779078668
136 V>L No ClinGen
ExAC
CA377570700
rs1327506424
137 D>Y No ClinGen
gnomAD
rs1460165806
CA377570728
141 R>G No ClinGen
TOPMed
CA377570741
rs1215574937
142 I>M No ClinGen
gnomAD
rs200818222
CA5601155
143 A>T No ClinGen
ExAC
gnomAD
rs780477587
CA5601156
144 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA211440352
rs946512719
COSM1349791
144 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM198512
CA5601157
rs753952218
146 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1187704889
CA377570781
149 L>S No ClinGen
gnomAD
CA211440364
rs532176823
151 K>E No ClinGen
Ensembl
CA5601158
rs200656344
151 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA377570813
rs1239352182
154 G>S No ClinGen
gnomAD
CA211440392
rs139603609
156 N>K No ClinGen
ESP
TOPMed
gnomAD
CA5601160
rs748149552
156 N>S No ClinGen
ExAC
gnomAD
TCGA novel 159 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377570854
rs1315155016
160 A>T No ClinGen
TOPMed
rs769553303
CA5601162
161 I>T No ClinGen
ExAC
gnomAD
CA211440411
rs373667435
162 G>E No ClinGen
ESP
CA211440404
rs746088993
162 G>R No ClinGen
gnomAD
TCGA novel
rs1589790807
CA377570881
164 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs939665361
CA211440414
164 S>R No ClinGen
TOPMed
CA377570886
rs1338367717
165 T>P No ClinGen
TOPMed
TCGA novel 167 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601163
rs772792441
168 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA5601164
rs762508210
169 F>C No ClinGen
ExAC
gnomAD
rs1382415512
CA377570921
170 N>D No ClinGen
TOPMed
CA377570924
rs1564667277
170 N>S No ClinGen
Ensembl
rs1460760598
CA377570933
171 D>V No ClinGen
TOPMed
gnomAD
CA377570939
rs1402399907
172 E>A No ClinGen
gnomAD
TCGA novel 172 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 174 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601166
rs774032593
177 T>A No ClinGen
ExAC
gnomAD
CA377570979
rs1326937155
177 T>I No ClinGen
gnomAD
CA5601167
rs759163823
179 T>S No ClinGen
ExAC
gnomAD
rs1333098112
COSM1506458
CA377570996
180 S>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs143465709
CA5601168
181 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 182 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601169
rs754109070
182 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1194663929
CA377571015
184 V>I No ClinGen
gnomAD
CA377571025
rs1564667377
185 N>S No ClinGen
Ensembl
rs1158140020
CA377571033
186 K>R No ClinGen
gnomAD
rs762383165
CA5601170
188 P>R No ClinGen
ExAC
gnomAD
rs1172271591
CA377571463
190 L>I No ClinGen
TOPMed
TCGA novel 190 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375679404
CA5601190
191 Q>E No ClinGen
ESP
ExAC
gnomAD
CA5601192
rs765627546
196 I>T No ClinGen
ExAC
gnomAD
CA377571568
rs1158874931
197 D>E No ClinGen
TOPMed
CA5601193
rs773908961
201 R>Q No ClinGen
ExAC
gnomAD
CA5601194
rs763507976
202 A>T No ClinGen
ExAC
gnomAD
rs766600665
CA5601195
202 A>V No ClinGen
ExAC
TCGA novel 203 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377571632
rs1231016872
203 G>R No ClinGen
TOPMed
rs1234697855
CA377571648
204 M>V No ClinGen
gnomAD
rs1022941450
CA211442465
205 S>G No ClinGen
TOPMed
rs755243598
CA377571754
210 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1300068499
CA377571774
212 A>T No ClinGen
Ensembl
TCGA novel 214 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347250870
CA377571825
215 M>R No ClinGen
TOPMed
rs779111858
CA211442467
215 M>V No ClinGen
Ensembl
TCGA novel 217 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA211442478
rs908659723
219 F>L No ClinGen
gnomAD
CA377571928
rs1204347253
222 Q>R No ClinGen
gnomAD
CA377571953
rs1267896232
224 S>P No ClinGen
gnomAD
rs752960108
CA5601199
227 A>V No ClinGen
ExAC
gnomAD
rs777601939
CA5601201
230 T>A No ClinGen
ExAC
gnomAD
CA377571996
rs1453909643
230 T>I No ClinGen
gnomAD
CA377571999
rs1589797343
231 N>H No ClinGen
Ensembl
rs1159429474
CA377572001
231 N>S No ClinGen
gnomAD
CA377572017
rs1347200706
233 K>T No ClinGen
gnomAD
CA5601215
rs766935121
235 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs941907694
CA211444748
236 D>G No ClinGen
Ensembl
rs941907694
CA377572337
236 D>V No ClinGen
Ensembl
CA211444751
rs1037935880
237 S>N No ClinGen
gnomAD
rs774986141
CA5601216
238 T>P No ClinGen
ExAC
gnomAD
CA377572358
rs1408447468
239 D>E No ClinGen
gnomAD
CA5601219
rs752910375
241 E>V No ClinGen
ExAC
gnomAD
CA5601220
rs756308306
247 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs763907661
CA5601221
249 I>M No ClinGen
ExAC
gnomAD
CA5601222
rs143742930
250 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA377572455
rs1319936481
254 I>F No ClinGen
TOPMed
CA211444823
rs1004887593
256 Q>E No ClinGen
TOPMed
rs778875440
CA5601225
259 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5601226
rs750367374
261 S>F No ClinGen
ExAC
gnomAD
rs757883590
CA5601227
263 V>D No ClinGen
ExAC
TOPMed
gnomAD
CA377572524
rs1564671572
264 L>W No ClinGen
Ensembl
rs1435377840
CA377572532
265 I>M No ClinGen
TOPMed
gnomAD
rs897770228
CA211444855
265 I>S No ClinGen
gnomAD
rs897770228
CA377572531
265 I>T No ClinGen
gnomAD
CA5601228
rs779571207
266 D>G No ClinGen
ExAC
gnomAD
rs746674674
CA5601229
267 N>S No ClinGen
ExAC
gnomAD
CA377572563
rs1434769711
270 D>G No ClinGen
TOPMed
CA5601230
rs768291253
270 D>N No ClinGen
ExAC
gnomAD
rs778296572
CA5601231
271 S>G No ClinGen
ExAC
gnomAD
rs1352232727
CA377572578
272 S>C No ClinGen
TOPMed
gnomAD
CA377572579
rs1352232727
272 S>F No ClinGen
TOPMed
gnomAD
CA377572591
rs1458997262
274 L>F No ClinGen
TOPMed
CA377572600
rs1347605151
276 E>K No ClinGen
TOPMed
rs145741532
CA5601250
280 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377572642
rs1416472333
280 E>K No ClinGen
TOPMed
CA377572659
rs1176329048
282 P>A No ClinGen
TOPMed
TCGA novel 284 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1042125731
CA211445590
284 E>G No ClinGen
Ensembl
TCGA novel 284 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377572720
rs1432674884
290 L>F No ClinGen
gnomAD
rs1479857032
CA377572726
291 C>G No ClinGen
TOPMed
rs779369727
CA5601251
292 N>H No ClinGen
ExAC
gnomAD
rs746390763
CA5601252
297 P>H No ClinGen
ExAC
TOPMed
gnomAD
COSM1702762
rs1183948397
CA377572779
298 S>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1564673791
CA377573163
302 R>* No ClinGen
Ensembl
CA377573227
rs1214829237
312 I>V No ClinGen
gnomAD
CA211446951
rs372611574
313 L>V No ClinGen
ESP
CA5601274
rs780672837
318 K>E No ClinGen
ExAC
gnomAD
rs200307714
CA5601276
323 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747481413
CA5601275
323 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA5601277
rs776654733
324 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1406941268
CA377573319
325 D>E No ClinGen
gnomAD
rs906250341
CA211446976
325 D>V No ClinGen
TOPMed
CA5601278
rs748376847
326 S>G No ClinGen
ExAC
gnomAD
CA377573326
rs1252247334
326 S>R No ClinGen
TOPMed
gnomAD
CA211446989
rs1013936813
328 L>S No ClinGen
TOPMed
gnomAD
rs1474779731
CA377573369
331 M>L No ClinGen
gnomAD
rs1474779731
CA377573368
331 M>V No ClinGen
gnomAD
CA377573378
rs1466728039
332 I>F No ClinGen
TOPMed
CA377573384
rs1421097493
333 Q>E No ClinGen
TOPMed
CA377573386
rs1193757584
333 Q>R No ClinGen
TOPMed
gnomAD
rs1248277596
CA377573431
338 W>C No ClinGen
TOPMed
CA377573428
rs1478257912
338 W>L No ClinGen
TOPMed
TCGA novel 340 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601337
rs774246299
344 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs568457060
CA5601339
348 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs143642000
CA5601340
348 C>S No ClinGen
ESP
ExAC
gnomAD
TCGA novel 349 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601341
rs760325397
356 G>E No ClinGen
ExAC
gnomAD
TCGA novel 357 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755238416
CA5601342
358 F>Y No ClinGen
ExAC
gnomAD
TCGA novel 361 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs112687582
CA211450729
362 E>* No ClinGen
Ensembl
rs1444346799
CA377573803
363 V>I No ClinGen
TOPMed
rs1276764977
CA377573818
364 V>M No ClinGen
TOPMed
TCGA novel 374 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377574047
rs1365883437
378 V>I No ClinGen
gnomAD
CA377574086
rs1330111800
380 K>E No ClinGen
TOPMed
rs1452127719
CA377574138
382 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA377574144
rs1448043962
383 N>D No ClinGen
TOPMed
rs753801712
CA5601371
384 E>V No ClinGen
ExAC
gnomAD
TCGA novel 386 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377574206
rs1282018577
386 G>E No ClinGen
TOPMed
gnomAD
rs757346058
CA5601372
389 K>R No ClinGen
ExAC
gnomAD
TCGA novel 396 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768422488
CA5601378
399 T>I No ClinGen
ExAC
gnomAD
rs768422488
CA5601379
399 T>R No ClinGen
ExAC
gnomAD
rs375893449
CA211450861
401 E>K No ClinGen
Ensembl
TCGA novel 413 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 414 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601383
rs142662167
416 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371323515
CA5601384
416 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377574464
rs1419117610
420 R>C No ClinGen
gnomAD
rs1419117610
CA377574465
420 R>S No ClinGen
gnomAD
CA5601404
rs199521248
423 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774038420
CA5601405
424 I>V No ClinGen
ExAC
gnomAD
rs1428521135
CA377574938
425 N>S No ClinGen
gnomAD
rs529400974
CA211452340
434 R>K No ClinGen
1000Genomes
CA5601408
rs139291333
435 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1313159269
CA377575003
435 I>V No ClinGen
gnomAD
rs762357798
CA5601409
436 I>V No ClinGen
ExAC
gnomAD
rs368910028
CA211452349
438 G>E No ClinGen
ESP
rs750458810
CA5601411
448 A>V No ClinGen
ExAC
gnomAD
rs112004463
CA211452354
451 A>T No ClinGen
Ensembl
CA377575113
rs1412442556
452 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766579365
CA5601413
455 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1227896012
CA377575139
456 P>S No ClinGen
gnomAD
rs1292263876
CA377575143
457 V>I No ClinGen
gnomAD
rs200435905
CA5601414
460 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 462 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601415
rs754782009
COSM3935206
463 Y>C oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1486824447
CA377575183
463 Y>H No ClinGen
gnomAD
rs1156517353
CA377575191
464 L>F No ClinGen
TOPMed
rs143168726
CA5601416
465 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs759764980
CA5601434
471 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs1171687288
CA377575924
472 I>L No ClinGen
gnomAD
rs1238765341
CA377575932
473 I>V No ClinGen
TOPMed
rs767222082
CA5601435
478 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs755888062
CA5601437
479 A>G No ClinGen
ExAC
gnomAD
CA377575977
rs1210148639
479 A>S No ClinGen
TOPMed
CA211453253
rs1015704471
492 S>G No ClinGen
TOPMed
rs777752493
CA5601438
492 S>N No ClinGen
ExAC
gnomAD
CA211453260
rs563848957
505 Q>E No ClinGen
Ensembl
rs201616150
CA5601441
506 V>F No ClinGen
1000Genomes
ExAC
gnomAD
CA5601442
rs201616150
506 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA5601444
rs781421428
508 Q>P No ClinGen
ExAC
gnomAD
CA377576224
rs1355344730
514 S>P No ClinGen
gnomAD
TCGA novel 517 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757830673
CA5601460
517 V>I No ClinGen
ExAC
gnomAD
CA377576266
rs1234404440
521 R>C No ClinGen
gnomAD
CA5601461
rs150324272
525 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213416358
CA377576309
527 H>R No ClinGen
Ensembl
rs370158878
CA5601465
529 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs554284350
CA5601463
529 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs370158878
CA5601464
529 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475428503
CA377576330
530 I>M No ClinGen
gnomAD
rs1250755571
CA377576326
530 I>V No ClinGen
gnomAD
rs771415268
CA5601466
536 A>P No ClinGen
ExAC
gnomAD
rs1471814401
CA377576391
540 T>I No ClinGen
gnomAD
CA5601468
rs746029372
543 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs763907737
CA5601472
548 Q>E No ClinGen
ExAC
gnomAD
CA5601473
rs776341180
548 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA377576455
rs1298625630
550 Q>R No ClinGen
TOPMed
CA377577713
rs1380376823
552 S>Y No ClinGen
TOPMed
CA377577747
rs1236120273
557 I>T No ClinGen
gnomAD
CA377577752
rs1254004006
558 P>S No ClinGen
gnomAD
CA377577759
rs1589866149
559 I>T No ClinGen
Ensembl
rs892161542
CA211460892
559 I>V No ClinGen
TOPMed
CA5601495
rs762759718
561 P>S No ClinGen
ExAC
gnomAD
rs1184466970
CA377577785
563 M>I No ClinGen
TOPMed
gnomAD
CA5601496
rs200555889
563 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs751060217
CA5601497
564 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA377577794
rs1454855434
565 R>* No ClinGen
gnomAD
COSM3415346
rs754526608
CA5601498
565 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA211460903
rs111500696
566 H>R No ClinGen
Ensembl
rs1453169175
CA377577823
569 Q>R No ClinGen
TOPMed
CA377577834
rs1350500006
570 F>L No ClinGen
TOPMed
CA5601500
rs752262794
571 C>F No ClinGen
ExAC
gnomAD
CA377577849
rs1159591770
573 L>V No ClinGen
gnomAD
CA377577864
rs1167221188
575 S>G No ClinGen
TOPMed
CA377577866
rs1251628939
575 S>N No ClinGen
TOPMed
gnomAD
rs1456181314
CA377577896
579 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 580 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601513
rs762965832
593 K>E No ClinGen
ExAC
gnomAD
rs771053970
CA5601514
594 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1389558748
CA377578137
597 Q>R No ClinGen
gnomAD
CA211461242
rs758912615
605 P>A No ClinGen
TOPMed
gnomAD
rs758912615
CA211461243
605 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 606 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377578274
rs1589869372
607 M>V No ClinGen
Ensembl
rs1224207992
CA377578369
613 L>W No ClinGen
TOPMed
TCGA novel 614 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1489813849
CA377578412
616 Q>L No ClinGen
TOPMed
rs1440077646
CA377578431
617 P>L No ClinGen
gnomAD
rs1290747727
CA377578468
619 H>Q No ClinGen
TOPMed
rs1293849485
CA377578451
619 H>Y No ClinGen
gnomAD
rs752414138
CA5601518
621 P>L No ClinGen
ExAC
gnomAD
CA5601519
rs760201559
622 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1488272840
CA377578538
624 L>S No ClinGen
gnomAD
CA377578558
rs1304148289
625 N>S No ClinGen
gnomAD
CA5601521
rs750695393
626 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA211461256
rs898034658
630 V>A No ClinGen
Ensembl
CA377578673
rs1482297420
630 V>L No ClinGen
TOPMed
gnomAD
rs1305232611
CA377578757
634 A>V No ClinGen
TOPMed
CA377578776
rs1419228400
635 K>R No ClinGen
gnomAD
rs973399057
CA211461428
638 T>I No ClinGen
TOPMed
rs373733991
CA5601549
638 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601550
rs752781669
639 G>S No ClinGen
ExAC
gnomAD
rs756218259
CA5601551
641 K>E No ClinGen
ExAC
gnomAD
rs1193922817
CA377579047
642 V>M No ClinGen
gnomAD
CA5601553
rs749503011
643 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201027186
CA5601554
643 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA377579098
rs1345720772
645 G>S No ClinGen
gnomAD
rs778809301
CA5601555
646 Q>E No ClinGen
ExAC
CA5601556
rs745801374
646 Q>H No ClinGen
ExAC
gnomAD
rs1452521875
CA377579124
646 Q>R No ClinGen
TOPMed
CA211461451
rs1007847645
654 Q>P No ClinGen
gnomAD
rs768178831
CA5601560
661 D>H No ClinGen
ExAC
gnomAD
rs768178831
CA5601561
661 D>N No ClinGen
ExAC
gnomAD
CA377579423
rs761415793
663 I>L No ClinGen
ExAC
gnomAD
rs761415793
CA5601562
663 I>V No ClinGen
ExAC
gnomAD
CA377579444
rs1278437801
664 M>T No ClinGen
gnomAD
CA377579437
rs1460774338
664 M>V No ClinGen
TOPMed
gnomAD
CA211461462
rs202236181
667 P>S No ClinGen
Ensembl
TCGA novel 668 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA211461479
rs1021068862
669 T>I No ClinGen
TOPMed
rs774641190
CA5601564
669 T>S No ClinGen
ExAC
gnomAD
CA5601565
rs759881255
675 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs896360348
CA211461489
676 R>G No ClinGen
TOPMed
rs767979029
CA5601566
679 M>I No ClinGen
ExAC
gnomAD
rs149461421
CA5601567
680 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601568
rs756200171
681 A>T No ClinGen
ExAC
gnomAD
rs1445308113
CA377579752
681 A>V No ClinGen
TOPMed
CA377579757
rs1262784262
682 A>T No ClinGen
TOPMed
rs757485831
CA5601571
683 K>R No ClinGen
ExAC
gnomAD
CA5601586
rs775887513
684 L>M No ClinGen
ExAC
gnomAD
rs536232879
CA211461644
685 L>V No ClinGen
1000Genomes
rs550298184
CA5601588
690 C>W No ClinGen
ExAC
gnomAD
rs753906661
CA5601589
691 C>S No ClinGen
ExAC
gnomAD
rs917322184
CA211461663
692 I>V No ClinGen
TOPMed
CA5601590
rs555847293
694 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1444224856
CA377580058
696 G>D No ClinGen
TOPMed
rs765621237
CA5601591
696 G>R No ClinGen
ExAC
gnomAD
CA377580050
rs765621237
696 G>S No ClinGen
ExAC
gnomAD
rs750642666
CA5601592
697 V>I No ClinGen
ExAC
gnomAD
rs1250872509
CA377580103
700 V>I No ClinGen
TOPMed
gnomAD
CA377580106
rs1250872509
700 V>L No ClinGen
TOPMed
gnomAD
rs758175640
CA5601593
701 T>A No ClinGen
ExAC
gnomAD
rs1327182748
CA377580134
702 Q>P No ClinGen
gnomAD
CA377580158
rs779848076
703 E>D No ClinGen
ExAC
gnomAD
rs751458194
CA5601595
704 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA377580208
rs1471865911
707 A>T No ClinGen
gnomAD
CA211461693
rs12412136
707 A>V No ClinGen
Ensembl
CA5601600
rs777455839
720 S>Y No ClinGen
ExAC
gnomAD
rs1175689657
CA377580371
722 S>C No ClinGen
TOPMed
TCGA novel 722 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA211461719
rs201680142
724 L>S No ClinGen
gnomAD
CA211461721
rs902498103
728 S>G No ClinGen
Ensembl
CA211461724
rs757106945
731 L>F No ClinGen
Ensembl
CA377580436
rs1401496702
732 V>E No ClinGen
TOPMed
TCGA novel 734 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775854329
CA377580459
CA5601603
735 E>D No ClinGen
ExAC
gnomAD
rs772357140
CA5601602
735 E>Q No ClinGen
ExAC
gnomAD
rs1276437854
CA377580461
736 W>R No ClinGen
gnomAD
CA5601605
rs374802287
740 Q>R No ClinGen
ESP
ExAC
TOPMed
TCGA novel 742 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601620
rs777227610
742 E>K No ClinGen
ExAC
gnomAD
CA5601621
rs748894529
743 C>R No ClinGen
ExAC
gnomAD
CA5601622
rs770556927
744 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs977157525
CA211462135
747 T>A No ClinGen
gnomAD
CA5601624
rs747470694
750 V>M No ClinGen
ExAC
gnomAD
rs777326643
CA5601626
753 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA377581048
rs777326643
753 R>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 755 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745495535
CA5601627
755 L>I No ClinGen
ExAC
gnomAD
rs199636186
CA5601628
756 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA211462144
rs199636186
756 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA377581062
rs1390996758
756 D>V No ClinGen
gnomAD
rs1168063270
CA377581071
757 I>T No ClinGen
TOPMed
CA5601629
rs773286957
761 H>R No ClinGen
ExAC
gnomAD
CA211462154
rs200565012
761 H>Y No ClinGen
TOPMed
CA5601631
rs766690328
763 Y>C No ClinGen
ExAC
gnomAD
CA211462175
rs769390194
766 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5601634
rs767255345
769 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA211462184
rs779714072
770 P>A No ClinGen
gnomAD
rs903404922
CA211462187
773 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs992826231
CA211462190
COSM198513
773 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs866580930
CA211462193
777 E>D No ClinGen
Ensembl
CA377581234
rs1320055133
781 L>V No ClinGen
TOPMed
rs574916800
CA5601635
782 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA211462207
rs780810785
786 A>P No ClinGen
Ensembl
rs998873243
CA211462209
787 D>H No ClinGen
TOPMed
rs141900541
CA5601637
788 V>I No ClinGen
ESP
ExAC
CA377581293
rs1183464117
790 I>T No ClinGen
gnomAD
CA377581313
rs753442255
793 G>D No ClinGen
ExAC
gnomAD
rs753442255
CA5601638
793 G>V No ClinGen
ExAC
gnomAD
CA5601639
rs190876263
795 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA211462215
rs893137546
796 V>A No ClinGen
TOPMed
gnomAD
TCGA novel 796 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA211462217
rs969811060
797 N>H No ClinGen
gnomAD
rs778664016
CA5601640
797 N>S No ClinGen
ExAC
gnomAD
rs1345093941
CA377581342
798 N>S No ClinGen
Ensembl
TCGA novel 799 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601642
rs745485131
799 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1309690143
CA377581373
803 I>V No ClinGen
gnomAD
CA377581387
rs1589876037
805 Q>K No ClinGen
Ensembl
CA5601644
rs557683463
807 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs76236373
CA211464298
810 V>F No ClinGen
gnomAD
CA5601670
rs149243426
COSM1580623
812 T>A haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA377582154
rs1388036932
817 A>T No ClinGen
gnomAD
rs756404793
CA5601671
817 A>V No ClinGen
ExAC
gnomAD
rs1468456910
CA377582192
820 S>P No ClinGen
TOPMed
COSM921430
CA5601674
rs375243421
822 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA377582225
rs375243421
822 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774232595
CA5601675
825 P>A No ClinGen
ExAC
gnomAD
rs1405497377
CA377582281
825 P>L No ClinGen
gnomAD
CA377582367
rs1444158140
830 Q>H No ClinGen
TOPMed
rs775680358
CA5601678
835 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 841 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1203510838
CA377582502
843 T>K No ClinGen
TOPMed
rs547616587
CA211464340
844 E>D No ClinGen
1000Genomes
TOPMed
gnomAD
rs1238945396
CA377582507
844 E>G No ClinGen
gnomAD
rs768310189
CA5601680
847 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA211464344
rs937977209
847 Q>R No ClinGen
TOPMed
CA377582557
rs1202366628
851 V>L No ClinGen
gnomAD
CA377582576
rs1350453760
853 Q>* No ClinGen
TOPMed
CA377582615
rs201263015
855 R>S No ClinGen
1000Genomes
rs776651551
CA5601681
858 T>N No ClinGen
ExAC
gnomAD
CA5601682
rs761613440
861 A>V No ClinGen
ExAC
gnomAD
CA5601683
rs764807207
862 C>S No ClinGen
ExAC
gnomAD
CA211464351
rs898046895
866 S>N No ClinGen
Ensembl
rs750013023
CA5601684
867 L>M No ClinGen
ExAC
gnomAD
TCGA novel 869 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866146972
CA211464354
869 Q>K No ClinGen
Ensembl
rs766176656
CA5601686
871 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs751235982
CA5601687
871 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA377582867
rs1254902012
872 E>K No ClinGen
gnomAD
TCGA novel 873 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601691
rs201856191
875 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs779376563
CA5601692
877 I>V No ClinGen
ExAC
gnomAD
rs538178672
CA211464375
878 I>M No ClinGen
1000Genomes
gnomAD
rs1283218397
CA377583027
881 L>F No ClinGen
gnomAD
CA211464379
rs1007652983
881 L>S No ClinGen
Ensembl
CA5601693
rs746009618
882 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA211464380
rs79134325
883 E>* No ClinGen
Ensembl
rs780300941
CA5601695
886 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA377583124
rs1589890669
887 K>R No ClinGen
Ensembl
rs747184540
CA5601696
889 E>D No ClinGen
ExAC
gnomAD
CA377583166
rs1248205158
890 N>S No ClinGen
gnomAD
rs201084768
CA5601697
891 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs368258583
CA5601698
896 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA211464397
rs957872470
898 A>P No ClinGen
TOPMed
gnomAD
rs1417138614
CA377583220
898 A>V No ClinGen
TOPMed
gnomAD
CA5601700
rs769688178
899 Q>R No ClinGen
ExAC
gnomAD
CA5601702
rs571192679
900 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs142592795
CA5601703
901 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 903 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1446734458
CA377583258
904 L>H No ClinGen
TOPMed
CA377583280
rs1351922476
907 Q>L No ClinGen
gnomAD
rs150005802
CA5601707
910 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377583300
rs1351628771
910 T>R No ClinGen
gnomAD
CA377583298
rs150005802
910 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs79730690
CA5601708
912 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5601710
rs146906893
913 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1344312178
CA377583320
914 C>G No ClinGen
TOPMed
CA5601713
rs758492244
920 I>T No ClinGen
ExAC
gnomAD
CA377583379
rs1363917226
922 N>I No ClinGen
TOPMed
rs942220717
CA211464431
923 L>F No ClinGen
TOPMed
gnomAD
rs768702576
CA5601716
924 C>S No ClinGen
ExAC
gnomAD
CA377583391
rs1392126283
924 C>Y No ClinGen
TOPMed
CA377583406
rs1469704067
926 S>P No ClinGen
gnomAD
CA377583419
rs1185229447
928 C>Y No ClinGen
TOPMed
CA377583424
rs1182596631
929 V>M No ClinGen
gnomAD
CA5601717
rs781473293
933 L>V No ClinGen
ExAC
gnomAD
CA5601719
rs769690960
935 P>R No ClinGen
ExAC
gnomAD
rs1371602582
CA377583479
937 V>A No ClinGen
TOPMed
gnomAD
rs1371602582
CA377583478
937 V>D No ClinGen
TOPMed
gnomAD
CA5601721
rs199619779
939 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5601722
rs770571789
939 C>Y No ClinGen
ExAC
gnomAD
CA5601724
rs759076323
944 Q>K No ClinGen
ExAC
gnomAD
rs1342184666
CA377583521
944 Q>L No ClinGen
TOPMed
rs919418037
CA211464457
945 S>R No ClinGen
Ensembl
rs1274510803
CA377583536
946 G>D No ClinGen
TOPMed
CA211464470
rs936442973
948 E>D No ClinGen
TOPMed
CA377583800
rs1176437384
952 G>V No ClinGen
gnomAD
rs771585054
CA211465765
953 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs771585054
CA5601746
953 S>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1297499
CA377583808
rs1275408503
954 T>A Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1248891000
CA377583814
955 S>T No ClinGen
gnomAD
CA377583822
rs1449026711
956 E>G No ClinGen
TOPMed
gnomAD
CA377583833
rs1338828796
957 K>N No ClinGen
TOPMed
CA211465780
rs866457763
957 K>R No ClinGen
Ensembl
CA377583855
rs1171769697
960 M>I No ClinGen
gnomAD
CA377583849
rs1441480216
960 M>V No ClinGen
gnomAD
CA377583862
rs1191473969
961 H>L No ClinGen
gnomAD
CA211465791
rs562974443
966 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5601747
rs775024551
966 K>R No ClinGen
ExAC
gnomAD
rs1564701146
CA377583912
969 G>S No ClinGen
Ensembl
rs773505934
CA5601750
972 T>I No ClinGen
ExAC
gnomAD
CA377583946
rs1320718978
974 Y>C No ClinGen
gnomAD
rs921151259
CA211465796
974 Y>H No ClinGen
TOPMed
gnomAD
CA211465797
rs575249598
976 H>R No ClinGen
Ensembl
rs1380217785
CA377583993
981 F>L No ClinGen
gnomAD
rs910413809
CA211465800
987 R>Q No ClinGen
TOPMed
rs1564701193
CA377584062
989 P>L No ClinGen
Ensembl
rs141774289
CA5601753
990 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601752
rs141774289
990 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148135608
CA5601755
991 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148135608
CA377584086
991 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148135608
CA377584087
991 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601757
rs756350522
993 A>T No ClinGen
ExAC
gnomAD
rs749166120
CA5601759
994 V>A No ClinGen
ExAC
gnomAD
CA377584122
rs1268915729
994 V>I No ClinGen
gnomAD
CA377584126
rs1268915729
994 V>L No ClinGen
gnomAD
CA377584175
rs1261406296
998 I>L No ClinGen
gnomAD
CA377584186
rs1455506834
998 I>M No ClinGen
TOPMed
CA377584181
rs1173768349
998 I>T No ClinGen
TOPMed
rs202030014
CA5601761
1003 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601762
rs745766265
1003 A>V No ClinGen
ExAC
gnomAD
rs1480428558
CA377584337
1009 I>N No ClinGen
gnomAD
rs1480428558
CA377584339
1009 I>T No ClinGen
gnomAD
CA377584356
rs1234748987
1010 L>P No ClinGen
TOPMed
CA5601763
rs771510969
1011 V>F No ClinGen
ExAC
gnomAD
rs1451126230
CA377584393
1013 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1451126230
CA377584397
1013 L>V No ClinGen
gnomAD
CA377584409
rs1157659849
1014 D>H No ClinGen
gnomAD
rs1027715131
CA211439574
1016 A>T No ClinGen
Ensembl
rs141695963
CA5601787
1019 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377561895
rs1256313138
1020 Y>H No ClinGen
gnomAD
rs912887563
CA211439598
1021 L>V No ClinGen
TOPMed
gnomAD
rs1181388760
CA377561907
1022 V>I No ClinGen
TOPMed
gnomAD
rs1181388760
CA377561908
1022 V>L No ClinGen
TOPMed
gnomAD
CA211439622
rs149445632
COSM107628
1023 Q>H skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1464131263
CA377561917
1023 Q>R No ClinGen
TOPMed
rs758296724
CA5601788
1024 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1449848836
CA377561921
1024 R>W No ClinGen
gnomAD
CA5601789
rs369497527
1025 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377561962
rs1214951577
1030 A>G No ClinGen
TOPMed
CA377561987
rs1319389918
1034 I>T No ClinGen
TOPMed
CA377561985
rs1406962282
1034 I>V No ClinGen
gnomAD
CA377561990
rs750344737
1035 V>I No ClinGen
gnomAD
CA211439650
rs750344737
1035 V>L No ClinGen
gnomAD
rs1005030847
CA211439657
1036 K>T No ClinGen
Ensembl
rs1215518843
CA377562004
1037 H>Y No ClinGen
gnomAD
rs780845029
CA5601792
1039 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA5601793
rs747760963
1039 G>D No ClinGen
ExAC
gnomAD
CA377562019
rs780845029
1039 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5601794
rs771206397
1040 G>D No ClinGen
ExAC
gnomAD
rs771206397
CA377562025
1040 G>V No ClinGen
ExAC
gnomAD
CA377562036
rs1564702552
1042 M>V No ClinGen
Ensembl
rs759810300
CA5601796
1045 K>E No ClinGen
ExAC
gnomAD
CA377562106
rs1215053414
1049 L>P No ClinGen
TOPMed
CA377562102
rs1242139433
1049 L>V No ClinGen
gnomAD
rs760881785
CA5601799
1050 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA5601798
rs34581576
1050 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA377562131
rs1417175550
1051 D>N No ClinGen
gnomAD
CA377562283
rs1589907824
1052 A>G No ClinGen
Ensembl
rs1427808665
CA377562289
1053 M>V No ClinGen
TOPMed
gnomAD
rs764217346
CA5601800
1054 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs1430006268
CA377562321
1054 V>G No ClinGen
gnomAD
CA377562313
rs764217346
1054 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA211439716
rs977015607
1055 G>S No ClinGen
Ensembl
rs372746538
CA211439742
1056 P>L No ClinGen
ESP
TOPMed
gnomAD
rs1431814979
CA377562389
1059 N>S No ClinGen
gnomAD
rs1290970950
CA377562403
1060 T>A No ClinGen
gnomAD
rs1290970950
CA377562405
1060 T>S No ClinGen
gnomAD
CA5601803
rs764953527
1061 I>V No ClinGen
ExAC
TOPMed
gnomAD
COSM168499
rs758122724
CA5601805
1062 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201921849
CA5601807
1063 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601808
rs138546512
1064 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA211439788
rs989262093
1066 F>I No ClinGen
TOPMed
gnomAD
rs1164682838
CA377563193
1070 S>P No ClinGen
TOPMed
gnomAD
rs927137772
CA211440269
1071 L>F No ClinGen
gnomAD
rs766122140
CA5601829
1073 D>E No ClinGen
ExAC
TOPMed
rs1246157260
CA377563226
1073 D>G No ClinGen
TOPMed
gnomAD
CA377563219
rs1564703289
1073 D>N No ClinGen
Ensembl
CA5601830
rs751504087
1074 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751504087
CA211440287
1074 K>Q No ClinGen
ExAC
gnomAD
CA5601831
rs141490858
1076 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767431217
CA5601832
1078 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs752273858
CA5601833
1079 A>P No ClinGen
ExAC
gnomAD
CA377563261
rs752273858
1079 A>T No ClinGen
ExAC
gnomAD
COSM1349799
CA377563267
rs1367883501
1080 Q>E Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs984742956
CA211440325
1091 T>I No ClinGen
gnomAD
CA377563355
rs1156947888
1093 A>T No ClinGen
TOPMed
CA5601837
rs758818993
1094 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA377563373
rs201129147
1096 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601838
rs201129147
1096 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1342911959
CA377563393
1098 S>F No ClinGen
gnomAD
rs1422217560
CA377563480
1109 P>L No ClinGen
gnomAD
rs139383937
CA5601862
1109 P>T No ClinGen
ESP
ExAC
CA211441648
rs1004953160
1110 H>R No ClinGen
TOPMed
CA377563489
rs1178034661
1111 L>F No ClinGen
gnomAD
rs1451509769
CA377563497
1112 Y>S No ClinGen
TOPMed
gnomAD
CA377563505
rs1318677720
1113 M>T No ClinGen
gnomAD
CA5601865
rs527813114
1114 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs991698978
CA211441661
1114 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA211441666
rs752239224
1116 Q>R No ClinGen
TOPMed
rs771800890
CA5601867
1117 Y>H No ClinGen
ExAC
gnomAD
rs760467099
CA5601869
1125 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1265133906
CA377564312
1128 R>C No ClinGen
gnomAD
rs763678052
CA5601870
1128 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA211441688
rs201873289
1131 G>D No ClinGen
Ensembl
rs753349957
CA5601871
1132 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1263102421
CA377564400
1133 M>I No ClinGen
gnomAD
rs1191587194
CA377564390
1133 M>V No ClinGen
gnomAD
CA5601872
rs761405886
1134 S>G No ClinGen
ExAC
gnomAD
TCGA novel 1135 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs184989067
CA5601873
1138 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750078741
CA5601874
1139 M>V No ClinGen
ExAC
gnomAD
CA377564479
rs1589916442
1140 E>K No ClinGen
Ensembl
rs755416867
CA5601875
1141 T>A No ClinGen
ExAC
gnomAD
rs973612506
CA211441736
1142 M>I No ClinGen
TOPMed
rs375873966
CA5601877
1142 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1143 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601878
rs368851377
1144 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778336984
CA5601879
1145 F>V No ClinGen
ExAC
gnomAD
rs770972779
CA5601881
1148 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA5601882
rs200051696
1149 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA377564697
rs1484819982
1150 L>I No ClinGen
TOPMed
gnomAD
CA211441799
rs949180383
1151 P>L No ClinGen
TOPMed
gnomAD
CA5601885
rs775093853
1152 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA377564727
rs1589916515
1152 W>R No ClinGen
Ensembl
rs565725059
CA211441803
1155 A>S No ClinGen
Ensembl
rs977852909
CA211441805
1156 I>V No ClinGen
TOPMed
CA377564830
rs1203727782
1159 S>G No ClinGen
gnomAD
CA5601886
rs760508898
1159 S>I No ClinGen
ExAC
gnomAD
CA5601887
rs760508898
1159 S>T No ClinGen
ExAC
gnomAD
rs149514783
CA5601888
1161 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA377564970
rs1136716
1165 A>G No ClinGen
TOPMed
CA5601891
rs144075270
1166 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601912
rs374229860
1173 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1316654532
CA377565211
1173 M>T No ClinGen
gnomAD
CA5601911
rs772914948
1173 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1263259881
CA377565233
1174 E>G No ClinGen
gnomAD
rs1236460473
CA377565223
1174 E>K No ClinGen
Ensembl
rs765985554
CA5601913
1175 Q>* No ClinGen
ExAC
gnomAD
CA211442635
rs939273115
1175 Q>R No ClinGen
TOPMed
CA377565268
rs1207648509
1177 D>Y No ClinGen
TOPMed
TCGA novel 1180 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601917
rs754343426
1181 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs754343426
CA377565345
1181 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1259571091
CA377565370
1183 Y>H No ClinGen
TOPMed
gnomAD
rs1477478604
CA377565393
1184 I>V No ClinGen
gnomAD
rs757708606
CA5601918
1188 V>I No ClinGen
ExAC
gnomAD
CA5601919
rs765723041
1190 P>L No ClinGen
ExAC
gnomAD
rs1030696901
CA211442657
1191 V>I No ClinGen
TOPMed
gnomAD
rs1030696901
CA377565479
1191 V>L No ClinGen
TOPMed
gnomAD
rs552584126
CA211442697
1193 G>A No ClinGen
Ensembl
rs780190883
CA5601922
1199 T>A No ClinGen
ExAC
gnomAD
CA5601923
rs561368862
1200 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746710558
CA211442719
1201 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA5601924
rs746710558
1201 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1181129954
CA377565715
1202 V>L No ClinGen
gnomAD
CA377565757
rs1346858395
1203 R>T No ClinGen
gnomAD
rs1217060390
CA377565775
1204 F>L No ClinGen
gnomAD
CA377565834
rs1169929596
1205 M>I No ClinGen
TOPMed
rs747942687
CA5601926
1207 T>M No ClinGen
ExAC
gnomAD
CA377565885
rs1564705854
1208 Q>R No ClinGen
Ensembl
CA377565964
rs1423060243
1212 T>A No ClinGen
TOPMed
rs377625453
CA5601927
1212 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377625453
CA377565971
1212 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773252293
CA5601928
1214 I>V No ClinGen
ExAC
gnomAD
TCGA novel 1216 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1269612673
CA377566116
1220 E>Q No ClinGen
gnomAD
CA377567320
rs1378795319
1222 G>D No ClinGen
gnomAD
CA5601946
rs752578807
1223 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5601947
rs755948983
1224 P>Q No ClinGen
ExAC
gnomAD
rs1322253013
CA377567400
1226 P>L No ClinGen
gnomAD
rs1564713380
CA377567407
1227 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA211448965
rs1004257363
1228 N>D No ClinGen
TOPMed
rs1271274730
CA377567457
1229 M>I No ClinGen
TOPMed
CA5601950
rs770347859
1229 M>T No ClinGen
ExAC
gnomAD
CA377567487
rs1368847659
1231 A>P No ClinGen
TOPMed
gnomAD
rs778424881
CA5601951
1231 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs376041029
CA5601953
1238 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5601954
rs775095086
1239 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA5601955
rs762217759
COSM274175
1241 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5601956
rs770096149
1246 Q>E No ClinGen
ExAC
gnomAD
rs770096149
CA377567750
1246 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 1252 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1252 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347413999
CA377567857
1253 L>F No ClinGen
gnomAD
TCGA novel 1253 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377567836
rs1236579664
1253 L>M No ClinGen
TOPMed
gnomAD
CA377567875
rs1457517192
1255 N>D No ClinGen
gnomAD
CA377567910
rs1184570876
1256 Y>C No ClinGen
gnomAD
rs763451266
CA5601958
1260 V>L No ClinGen
ExAC
gnomAD
TCGA novel 1262 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377568003
rs1564713540
1262 I>V No ClinGen
Ensembl
rs1460486408
CA377568027
1263 N>S No ClinGen
TOPMed
CA377569069
rs1307926836
1276 W>R No ClinGen
TOPMed
CA377569096
rs1343218999
1279 F>L No ClinGen
gnomAD
CA377569114
rs1200206830
1282 K>* No ClinGen
gnomAD
TCGA novel 1283 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5601988
rs764395046
1283 Y>H No ClinGen
ExAC
gnomAD
CA377569131
rs1215121387
1284 K>R No ClinGen
gnomAD
rs1261747579
CA377569156
1288 I>V No ClinGen
gnomAD
TCGA novel 1289 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377569190
rs1200462191
1292 D>E No ClinGen
gnomAD
TCGA novel 1292 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377569244
rs1375544198
1300 Q>P No ClinGen
gnomAD
CA377569288
rs1386225548
1303 C>Y No ClinGen
gnomAD
TCGA novel 1306 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158880946
CA377569344
1308 D>N No ClinGen
gnomAD
CA211449412
rs990161206
1311 H>R No ClinGen
TOPMed
gnomAD
rs757935801
CA5601993
1311 H>Y No ClinGen
ExAC
gnomAD
rs776698048
CA5602007
1312 R>S No ClinGen
ExAC
gnomAD
CA5602009
rs377099360
1313 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377099360
CA5602008
1313 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750366435
CA5602010
1314 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 1315 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1357925259
CA377569542
1317 A>V No ClinGen
TOPMed
CA377569554
rs1309056084
1318 R>T No ClinGen
TOPMed
gnomAD
TCGA novel 1319 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1323 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263098195
CA377569618
1323 E>Q No ClinGen
gnomAD
rs1355056474
CA377569636
1324 C>G No ClinGen
gnomAD
CA377569652
rs754461888
1325 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA5602014
rs754461888
1325 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1056143858
CA377569690
1328 P>A No ClinGen
TOPMed
gnomAD
rs1056143858
CA211449477
1328 P>T No ClinGen
TOPMed
gnomAD
rs1456200547
CA377569768
1334 P>L No ClinGen
gnomAD
CA377569805
rs1419963760
1337 L>F No ClinGen
TOPMed
CA377569894
rs1425440594
1343 D>E No ClinGen
gnomAD
rs1162602303
CA377569943
1347 K>R No ClinGen
TOPMed
gnomAD
rs142895671
CA5602017
1351 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779086520
CA5602018
1353 Y>H No ClinGen
ExAC
gnomAD
CA377570075
rs1331052778
1356 P>S No ClinGen
gnomAD
rs1398247548
CA377570111
1360 T>A No ClinGen
TOPMed
gnomAD
CA5602024
rs200341363
1364 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA377570154
rs1037330791
1367 I>L No ClinGen
TOPMed
gnomAD
CA5602025
rs761875177
1367 I>T No ClinGen
ExAC
gnomAD
CA211449512
rs1037330791
1367 I>V No ClinGen
TOPMed
gnomAD
CA5602043
rs747480854
1371 H>Y No ClinGen
ExAC
gnomAD
rs1217930340
CA377570209
1373 V>L No ClinGen
TOPMed
rs1426095994
CA377570215
1374 K>E No ClinGen
gnomAD
rs768787672
CA5602044
1376 H>R No ClinGen
ExAC
gnomAD
CA377570250
rs1172572020
1379 I>V No ClinGen
TOPMed
gnomAD
CA211450211
rs894074656
1383 Y>C No ClinGen
TOPMed
TCGA novel 1391 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1461178433
CA377570353
1393 F>L No ClinGen
TOPMed
CA211450219
rs773399691
1394 R>G No ClinGen
ExAC
gnomAD
rs368098781
CA5602069
1396 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs896049179
CA211450274
1397 K>R No ClinGen
Ensembl
rs1351125803
CA377570427
1402 I>V No ClinGen
gnomAD
CA377570455
rs1433782260
1406 G>S No ClinGen
gnomAD
rs1291832526
CA377570473
1408 V>A No ClinGen
TOPMed
gnomAD
TCGA novel 1409 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1411 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5602072
rs529244626
1420 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5602074
rs770725406
1426 N>S No ClinGen
ExAC
gnomAD
TCGA novel 1428 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5602075
rs774186020
1429 I>F No ClinGen
ExAC
gnomAD
rs745667868
CA5602076
1429 I>M No ClinGen
ExAC
gnomAD
rs771940365
CA5602077
1431 L>I No ClinGen
ExAC
gnomAD
rs1324803317
CA377571070
1439 N>H No ClinGen
TOPMed
CA377571075
rs1278805649
1439 N>S No ClinGen
TOPMed
rs1256500667
CA377571078
1440 V>I No ClinGen
gnomAD
CA211451301
rs12773807
1454 F>I No ClinGen
Ensembl
TCGA novel 1454 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757538967
CA5602098
1458 E>A No ClinGen
ExAC
gnomAD
CA5602099
rs779161834
1462 A>V No ClinGen
ExAC
gnomAD
rs966281593
CA211451336
COSM1246285
1464 R>Q Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1465 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745696273
CA5602100
1466 G>A No ClinGen
ExAC
gnomAD
CA211451345
rs1001755293
1466 G>S No ClinGen
TOPMed
rs976498012
CA211451359
1468 P>R No ClinGen
Ensembl
rs771854813
CA377571267
1468 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5602101
rs771854813
1468 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA5602103
rs746902471
1469 I>M No ClinGen
ExAC
gnomAD
CA5602102
rs375960243
1469 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA377571284
rs1357334642
1471 A>P No ClinGen
gnomAD
rs1220613202
CA377571341
1479 S>I No ClinGen
TOPMed
gnomAD
COSM540147
rs754346364
CA211451381
1479 S>R lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA377571342
rs1220613202
1479 S>T No ClinGen
TOPMed
gnomAD
CA377571356
rs1339026691
1481 E>D No ClinGen
TOPMed
gnomAD
CA377571378
rs1178438901
1484 A>V No ClinGen
TOPMed
rs1213796257
CA377571396
1485 G>D No ClinGen
gnomAD
CA377571414
rs1260458471
1488 A>V No ClinGen
gnomAD
rs1451754957
CA377571416
1489 M>V No ClinGen
gnomAD
rs987973346
COSM921440
CA211451495
1491 A>V Variant assessed as Somatic; 0.0 impact. endometrium stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA377571470
rs1453570358
1494 R>H No ClinGen
TOPMed
gnomAD
CA5602125
rs781246439
1496 V>I No ClinGen
ExAC
gnomAD
CA377571639
rs1156849561
1506 E>D No ClinGen
gnomAD
CA377571647
rs1384348881
1507 D>G No ClinGen
gnomAD
rs1237241520
CA377571659
1508 V>I No ClinGen
gnomAD
rs1258935579
CA377571689
1510 Q>R No ClinGen
TOPMed
TCGA novel 1513 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1513 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1387504768
CA377571737
1514 P>S No ClinGen
TOPMed
gnomAD
CA377571779
rs1483165341
1517 I>F No ClinGen
TOPMed
CA377571814
rs1325753603
1519 D>G No ClinGen
gnomAD
CA5602130
rs770476411
1521 Y>S No ClinGen
ExAC
gnomAD
CA211451527
rs925118820
1526 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs750583162
CA5602154
1530 Q>E No ClinGen
ExAC
gnomAD
CA5602156
rs762911146
1530 Q>H No ClinGen
ExAC
gnomAD
rs959605695
CA211452689
1530 Q>L No ClinGen
Ensembl
TCGA novel 1538 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766056138
CA5602157
1539 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5602158
rs754823312
1541 K>E No ClinGen
ExAC
gnomAD
CA377572124
rs1460759150
1541 K>R No ClinGen
TOPMed
gnomAD
CA377572123
rs1460759150
1541 K>T No ClinGen
TOPMed
gnomAD
CA5602159
rs767360270
1543 D>Y No ClinGen
ExAC
gnomAD
CA5602160
rs752525975
1547 T>A No ClinGen
ExAC
gnomAD
rs144590214
CA5602162
1550 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5602164
rs201449914
1552 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA5602165
rs778564930
1553 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs777041621
CA5602168
1554 S>C No ClinGen
ExAC
gnomAD
CA5602167
rs769024572
1554 S>P No ClinGen
ExAC
gnomAD
CA377572242
rs1256794335
1559 K>N No ClinGen
gnomAD
CA5602170
rs770373034
1561 K>E No ClinGen
ExAC
gnomAD
CA5602171
rs773570481
1562 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs376364195
CA5602172
1563 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440715306
CA377572265
1563 K>R No ClinGen
TOPMed
CA377572276
rs1456321867
1565 T>A No ClinGen
gnomAD
rs766331334
CA5602173
1565 T>I No ClinGen
ExAC
gnomAD
CA5602174
rs187034855
1566 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA5602177
rs752579096
1568 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5602178
rs755839370
1569 F>I No ClinGen
ExAC
gnomAD
rs867546888
CA211452811
1570 Q>* No ClinGen
Ensembl
rs763726970
CA5602204
1571 A>S No ClinGen
ExAC
gnomAD
CA377572809
rs763726970
1571 A>T No ClinGen
ExAC
gnomAD
rs761509295
CA211454123
1576 R>C No ClinGen
TOPMed
gnomAD
COSM1246286
rs1315803278
CA377572847
1576 R>H oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1192088409
CA377572871
1580 N>D No ClinGen
gnomAD
CA211454144
rs1018605289
1580 N>S No ClinGen
gnomAD
rs1440776318
CA377572886
1582 P>A No ClinGen
gnomAD
CA211454154
rs573399641
1585 V>I No ClinGen
Ensembl
rs749979589
CA5602208
1586 L>V No ClinGen
ExAC
gnomAD
rs757882513
CA5602209
1587 T>A No ClinGen
ExAC
gnomAD
rs150476679
CA211454161
1590 H>L No ClinGen
ESP
TOPMed
CA211454169
rs910518750
1596 T>A No ClinGen
TOPMed
rs530875744
CA211454171
1598 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5602212
rs530875744
1598 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778054473
CA5602213
1598 E>V No ClinGen
ExAC
gnomAD
CA5602214
rs749658540
1599 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs779540302
CA5602216
1601 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1337170994
CA377573010
1602 V>I No ClinGen
TOPMed
gnomAD
rs1337170994
CA377573011
1602 V>L No ClinGen
TOPMed
gnomAD
CA5602217
rs745963508
1603 Q>E No ClinGen
ExAC
gnomAD
rs1040476303
CA211454214
1607 L>P No ClinGen
TOPMed
gnomAD
rs149366400
CA5602220
1608 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143083029
CA5602222
1610 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149188394
CA5602221
1610 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1612 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1613 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377573091
rs1473990477
1614 P>S No ClinGen
gnomAD
CA377573103
rs1423982373
1616 L>I No ClinGen
gnomAD
TCGA novel 1616 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175422155
CA377573519
1622 L>F No ClinGen
gnomAD
rs769539374
CA211457594
1627 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA5602266
rs773139574
1627 G>D No ClinGen
ExAC
gnomAD
CA5602265
rs769539374
1627 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs762821785
CA5602267
1630 N>S No ClinGen
ExAC
gnomAD
rs1439369555
CA377573611
1631 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA211457613
rs1011357807
1631 G>R No ClinGen
TOPMed
gnomAD
CA5602268
rs766334367
1632 S>C No ClinGen
ExAC
gnomAD
CA377573630
rs1283056880
1633 T>A No ClinGen
TOPMed
gnomAD
CA377573647
rs1346399935
1634 S>C No ClinGen
gnomAD
CA5602270
rs759063882
1635 E>G No ClinGen
ExAC
gnomAD
CA5602269
rs773772641
1635 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752353933
CA5602272
1637 G>D No ClinGen
ExAC
gnomAD
TCGA novel 1638 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1638 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377573690
rs1241216157
1638 T>R No ClinGen
gnomAD
rs200544453
CA211457660
1647 I>L No ClinGen
TOPMed
gnomAD
rs1434061708
CA377573786
1649 I>M No ClinGen
gnomAD
rs765637327
CA5602274
1649 I>V No ClinGen
ExAC
gnomAD
rs1173014648
CA377573789
1650 F>L No ClinGen
gnomAD
CA377573791
rs1173014648
1650 F>V No ClinGen
gnomAD
CA377573861
rs1402586399
1655 S>R No ClinGen
gnomAD
CA5602276
rs759044334
1656 M>V No ClinGen
ExAC
gnomAD
CA5602277
rs780582745
1658 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs373206713
CA5602279
1659 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5602278
rs369387886
1659 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377573898
rs1488086238
1659 I>V No ClinGen
gnomAD
rs781300845
CA5602280
1660 V>I No ClinGen
ExAC
gnomAD
TCGA novel 1666 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377573980
rs1234205048
1666 K>R No ClinGen
gnomAD
CA377574000
rs1428774043
1668 H>R No ClinGen
TOPMed
rs867923772
CA211457692
1670 P>L No ClinGen
gnomAD
rs867923772
CA377574026
1670 P>R No ClinGen
gnomAD
rs1283081389
CA377574037
1671 S>F No ClinGen
gnomAD
rs781186159
CA5602282
1672 V>A No ClinGen
ExAC
gnomAD
TCGA novel 1675 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377574112
rs1250914895
1678 D>G No ClinGen
gnomAD
rs774292625
CA377574156
1682 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA5602286
rs774292625
1682 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5602287
rs185870397
1683 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1685 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5602288
rs766984624
1689 I>T No ClinGen
ExAC
gnomAD
rs1471184828
CA377574232
1689 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 1690 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5602289
rs775293515
1691 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA5602291
rs139357019
1692 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745851488
CA5602290
1692 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5602311
rs766704264
1694 N>S No ClinGen
ExAC
gnomAD
rs1195169349
CA377574506
1695 N>D No ClinGen
gnomAD
rs962592200
CA211461861
1699 I>V No ClinGen
TOPMed
gnomAD
rs1475021736
CA377574550
1701 V>A No ClinGen
TOPMed
gnomAD
rs201933329
CA5602313
1701 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201933329
CA377574547
1701 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA377574574
rs1229258483
1705 T>S No ClinGen
TOPMed
CA211461872
rs980700445
1706 T>A No ClinGen
TOPMed
rs1460842650
CA377574579
1706 T>S No ClinGen
gnomAD
rs777998095
CA5602317
1708 V>A No ClinGen
ExAC
CA5602316
rs756135288
1708 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1310571009
CA377574607
1711 L>Q No ClinGen
TOPMed
gnomAD
CA5602319
rs757015390
1714 N>H No ClinGen
ExAC
gnomAD
CA5602321
rs745643320
1716 T>K No ClinGen
ExAC
gnomAD
CA211461892
rs545512872
1717 G>S No ClinGen
gnomAD
rs1564727860
CA377574646
1718 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA211461901
rs965874260
1721 V>I No ClinGen
TOPMed
CA377574667
rs965874260
1721 V>L No ClinGen
TOPMed
CA377574671
rs1350023844
1722 V>I No ClinGen
gnomAD
rs768241618
CA5602325
1723 F>V No ClinGen
ExAC
gnomAD
rs557913533
CA5602326
1724 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA377574693
rs1485434577
1725 E>G No ClinGen
gnomAD
rs1187313712
CA377574714
1728 W>G No ClinGen
gnomAD
CA377574743
rs1418605118
1731 M>I No ClinGen
gnomAD
CA211461913
rs748373174
1732 R>* No ClinGen
Ensembl
CA211461917
rs137875988
1732 R>L No ClinGen
ESP
TOPMed
gnomAD
rs137875988
CA211461915
1732 R>Q No ClinGen
ESP
TOPMed
gnomAD
rs1554870709
CA377574766
1735 Q>H No ClinGen
Ensembl
rs1192982980
CA377574762
1735 Q>K No ClinGen
gnomAD
rs774848350
CA5602329
1737 M>V No ClinGen
ExAC
gnomAD
rs1437161763
CA377574797
1740 A>T No ClinGen
gnomAD
CA211461932
rs772349597
1741 H>R No ClinGen
Ensembl
rs199905326
CA5602330
1741 H>Y No ClinGen
ExAC
TOPMed
gnomAD
COSM404413
rs1453918414
CA377574818
1743 I>T lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1374330650
CA377574814
1743 I>V No ClinGen
gnomAD
CA377574823
rs1247110906
1744 G>E No ClinGen
TOPMed
rs991747650
CA211462072
1747 R>C No ClinGen
TOPMed
gnomAD
CA5602350
rs759893514
1747 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA377574859
rs1238132404
1748 V>L No ClinGen
TOPMed
gnomAD
CA211462090
rs1031980478
1749 V>I No ClinGen
Ensembl
CA211462096
rs201045605
1751 V>I No ClinGen
gnomAD
rs945097973
CA211462100
1756 T>S No ClinGen
TOPMed
rs750571792
CA5602355
1758 G>E No ClinGen
ExAC
gnomAD
CA211462116
rs765648981
1758 G>R No ClinGen
TOPMed
gnomAD
CA377575256
rs150588277
1760 L>F No ClinGen
ESP
TOPMed
gnomAD
rs141803255
CA5602357
1760 L>W No ClinGen
ESP
ExAC
TOPMed
TCGA novel 1762 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5602359
rs755036546
1765 M>I No ClinGen
ExAC
gnomAD
CA5602358
rs751389509
1765 M>T No ClinGen
ExAC
gnomAD
CA5602360
rs201415370
1769 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA5602361
rs747713552
1770 F>L No ClinGen
ExAC
gnomAD
rs775938003
CA211462128
1771 K>R No ClinGen
Ensembl
CA211462129
rs78419047
CA5602362
1772 M>L No ClinGen
ExAC
gnomAD
CA377575360
rs1590013331
1775 A>T No ClinGen
Ensembl
CA5602363
rs368179555
1775 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5602364
rs748877728
1777 T>S No ClinGen
ExAC
gnomAD
CA377575378
rs1325002092
1778 V>I No ClinGen
gnomAD
CA5602365
rs770557707
1780 S>N No ClinGen
ExAC
gnomAD
TCGA novel 1780 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA211462130
rs770557707
1780 S>T No ClinGen
ExAC
gnomAD
rs1470858904
CA377575399
1781 Q>E No ClinGen
gnomAD
rs775898923
CA5602366
1781 Q>R No ClinGen
ExAC
gnomAD
CA377575414
rs1214713392
1783 N>H No ClinGen
TOPMed
rs769253691
CA5602368
1784 S>A No ClinGen
ExAC
gnomAD
CA377575426
rs1399492682
1785 S>G No ClinGen
gnomAD
CA377575446
CA5602369
rs776956209
1787 Q>H No ClinGen
ExAC
gnomAD
CA377575450
rs1291460746
COSM1195665
1788 S>N lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA5602370
rs761985002
1789 M>V No ClinGen
ExAC
gnomAD
rs1590013494
CA377575476
1792 D>H No ClinGen
Ensembl
rs1207230727
CA377575484
1793 Q>E No ClinGen
gnomAD
CA377575531
rs1243164968
1800 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs549208029
CA5602371
1801 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1347636079
CA377575567
1803 D>G No ClinGen
TOPMed
gnomAD
rs1347636079
CA377575568
1803 D>V No ClinGen
TOPMed
gnomAD
CA5602425
rs764061430
1804 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA211462681
rs1054111182
1806 A>G No ClinGen
TOPMed
CA5602427
rs756705825
1808 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA5602429
rs750012295
1813 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs781468351
CA5602431
1813 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA5602430
rs750012295
1813 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA377575644
rs1398465757
1815 G>V No ClinGen
gnomAD
rs1247186927
CA377575664
1818 S>T No ClinGen
gnomAD
CA377575690
rs1454615296
1822 I>F No ClinGen
gnomAD
rs1454615296
CA377575692
1822 I>V No ClinGen
gnomAD
rs986081512
CA211462690
1824 E>Q No ClinGen
TOPMed
rs149285232
CA211462694
1827 S>I No ClinGen
ESP
rs910528614
CA211462696
1829 L>I No ClinGen
gnomAD
CA5602433
rs573313152
1831 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1477069450
CA377575757
1831 D>V No ClinGen
gnomAD
CA377575763
rs1408933289
1832 Q>R No ClinGen
gnomAD
rs749404938
CA5602435
1833 E>G No ClinGen
ExAC
gnomAD
CA5602434
rs369793088
1833 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1388342927
CA377575780
1834 Q>H No ClinGen
gnomAD
CA377575785
rs1442190395
1835 Y>C No ClinGen
gnomAD
TCGA novel 1844 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5602436
rs771064374
1846 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs774724780
CA5602437
1847 S>Y No ClinGen
ExAC
gnomAD
CA377575879
rs1283935330
1848 L>F No ClinGen
TOPMed

No associated diseases with O14981

2 regional properties for O14981

Type Name Position InterPro Accession
domain W2 domain 248 - 415 IPR003307
domain BZW1/2, W2 domain 218 - 408 IPR043510

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

8 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATP-dependent activity, acting on DNA Catalytic activity that acts to modify DNA, driven by ATP hydrolysis.
ATP-dependent chromatin remodeler activity An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
helicase activity Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix.
TBP-class protein binding Binding to a member of the class of TATA-binding proteins (TBP), including any of the TBP-related factors (TRFs).
transcription coregulator activity A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

2 GO annotations of biological process

Name Definition
negative regulation of chromatin binding Any process that stops or reduces the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
B5BT18 BTAF1 TATA-binding protein-associated factor BTAF1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAVSRLDRLF ILLDTGTTPV TRKAAAQQLG EVVKLHPHEL NNLLSKVLIY LRSANWDTRI
70 80 90 100 110 120
AAGQAVEAIV KNVPEWNPVP RTRQEPTSES SMEDSPTTER LNFDRFDICR LLQHGASLLG
130 140 150 160 170 180
SAGAEFEVQD EKSGEVDPKE RIARQRKLLQ KKLGLNMGEA IGMSTEELFN DEDLDYTPTS
190 200 210 220 230 240
ASFVNKQPTL QAAELIDSEF RAGMSNRQKN KAKRMAKLFA KQRSRDAVET NEKSNDSTDG
250 260 270 280 290 300
EPEEKRRKIA NVVINQSAND SKVLIDNIPD SSSLIEETNE WPLESFCEEL CNDLFNPSWE
310 320 330 340 350 360
VRHGAGTGLR EILKAHGKSG GKMGDSTLEE MIQQHQEWLE DLVIRLLCVF ALDRFGDFVS
370 380 390 400 410 420
DEVVAPVRET CAQTLGVVLK HMNETGVHKT VDVLLKLLTQ EQWEVRHGGL LGIKYALAVR
430 440 450 460 470 480
QDVINTLLPK VLTRIIEGLQ DLDDDVRAVA AASLVPVVES LVYLQTQKVP FIINTLWDAL
490 500 510 520 530 540
LELDDLTAST NSIMTLLSSL LTYPQVQQCS IQQSLTVLVP RVWPFLHHTI SSVRRAALET
550 560 570 580 590 600
LFTLLSTQDQ NSSSWLIPIL PDMLRHIFQF CVLESSQEIL DLIHKVWMEL LSKASVQYVV
610 620 630 640 650 660
AAACPWMGAW LCLMMQPSHL PIDLNMLLEV KARAKEKTGG KVRQGQSQNK EVLQEYIAGA
670 680 690 700 710 720
DTIMEDPATR DFVVMRARMM AAKLLGALCC CICDPGVNVV TQEIKPAESL GQLLLFHLNS
730 740 750 760 770 780
KSALQRISVA LVICEWAALQ KECKAVTLAV QPRLLDILSE HLYYDEIAVP FTRMQNECKQ
790 800 810 820 830 840
LISSLADVHI EVGNRVNNNV LTIDQASDLV TTVFNEATSS FDLNPQVLQQ LDSKRQQVQM
850 860 870 880 890 900
TVTETNQEWQ VLQLRVHTFA ACAVVSLQQL PEKLNPIIKP LMETIKKEEN TLVQNYAAQC
910 920 930 940 950 960
IAKLLQQCTT RTPCPNSKII KNLCSSLCVD PYLTPCVTCP VPTQSGQENS KGSTSEKDGM
970 980 990 1000 1010 1020
HHTVTKHRGI ITLYRHQKAA FAITSRRGPT PKAVKAQIAD LPAGSSGNIL VELDEAQKPY
1030 1040 1050 1060 1070 1080
LVQRRGAEFA LTTIVKHFGG EMAVKLPHLW DAMVGPLRNT IDINNFDGKS LLDKGDSPAQ
1090 1100 1110 1120 1130 1140
ELVNSLQVFE TAAASMDSEL HPLLVQHLPH LYMCLQYPST AVRHMAARCV GVMSKIATME
1150 1160 1170 1180 1190 1200
TMNIFLEKVL PWLGAIDDSV KQEGAIEALA CVMEQLDVGI VPYIVLLVVP VLGRMSDQTD
1210 1220 1230 1240 1250 1260
SVRFMATQCF ATLIRLMPLE AGIPDPPNMS AELIQLKAKE RHFLEQLLDG KKLENYKIPV
1270 1280 1290 1300 1310 1320
PINAELRKYQ QDGVNWLAFL NKYKLHGILC DDMGLGKTLQ SICILAGDHC HRAQEYARSK
1330 1340 1350 1360 1370 1380
LAECMPLPSL VVCPPTLTGH WVDEVGKFCS REYLNPLHYT GPPTERIRLQ HQVKRHNLIV
1390 1400 1410 1420 1430 1440
ASYDVVRNDI DFFRNIKFNY CILDEGHVIK NGKTKLSKAV KQLTANYRII LSGTPIQNNV
1450 1460 1470 1480 1490 1500
LELWSLFDFL MPGFLGTERQ FAARYGKPIL ASRDARSSSR EQEAGVLAMD ALHRQVLPFL
1510 1520 1530 1540 1550 1560
LRRMKEDVLQ DLPPKIIQDY YCTLSPLQVQ LYEDFAKSRA KCDVDETVSS ATLSEETEKP
1570 1580 1590 1600 1610 1620
KLKATGHVFQ ALQYLRKLCN HPALVLTPQH PEFKTTAEKL AVQNSSLHDI QHAPKLSALK
1630 1640 1650 1660 1670 1680
QLLLDCGLGN GSTSESGTES VVAQHRILIF CQLKSMLDIV EHDLLKPHLP SVTYLRLDGS
1690 1700 1710 1720 1730 1740
IPPGQRHSIV SRFNNDPSID VLLLTTHVGG LGLNLTGADT VVFVEHDWNP MRDLQAMDRA
1750 1760 1770 1780 1790 1800
HRIGQKRVVN VYRLITRGTL EEKIMGLQKF KMNIANTVIS QENSSLQSMG TDQLLDLFTL
1810 1820 1830 1840
DKDGKAEKAD TSTSGKASMK SILENLSDLW DQEQYDSEYS LENFMHSLK