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

5 structures for O95155

Entry ID Method Resolution Chain Position Source
2KRE NMR - A 1208-1302 PDB
3L1X X-ray 260 A A 1208-1302 PDB
3L1Z X-ray 317 A B 1208-1302 PDB
5O75 X-ray 148 A A 1226-1302 PDB
AF-O95155-F1 Predicted AlphaFoldDB

771 variants for O95155

Variant ID(s) Position Change Description Diseaes Association Provenance
CA579508
rs753542673
5 S>N No ClinGen
ExAC
gnomAD
TCGA novel 10 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1265980366
CA338687495
10 R>L No ClinGen
TOPMed
rs761955109
COSM180498
CA579523
11 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 16 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA579524
rs767666737
19 G>S No ClinGen
ExAC
gnomAD
rs1310653618
CA338687548
20 G>R No ClinGen
gnomAD
CA579526
rs761207145
21 Q>H No ClinGen
ExAC
gnomAD
rs773160592
CA18267919
21 Q>R No ClinGen
Ensembl
rs1415218195
CA338687794
23 S>T No ClinGen
gnomAD
rs1324626949
CA338687825
26 T>A No ClinGen
gnomAD
CA579527
rs149396014
26 T>S No ClinGen
ESP
ExAC
CA579528
rs754154046
27 T>I No ClinGen
ExAC
gnomAD
rs1570824857
CA338687857
30 T>P No ClinGen
Ensembl
CA338687872
rs1218690250
31 S>F No ClinGen
gnomAD
CA338687925
rs1570824880
36 N>T No ClinGen
Ensembl
rs1212128708
CA338687938
37 P>L No ClinGen
gnomAD
CA579530
rs764778044
37 P>S No ClinGen
ExAC
gnomAD
CA579532
rs757933390
38 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs752241237
CA579531
38 P>S No ClinGen
ExAC
gnomAD
rs1477430774
CA338687955
39 G>V No ClinGen
gnomAD
CA579535
rs757074810
39 G>W No ClinGen
ExAC
gnomAD
CA338687961
rs1361076009
40 P>L No ClinGen
TOPMed
rs1396567315
CA338687968
41 P>S No ClinGen
gnomAD
rs768969960
CA579538
42 I>T No ClinGen
ExAC
gnomAD
CA579537
rs762612503
42 I>V No ClinGen
ExAC
gnomAD
CA338687987
rs1382452772
43 A>E No ClinGen
gnomAD
rs866841780
CA338687993
44 A>S No ClinGen
gnomAD
rs866841780
CA18267990
44 A>T No ClinGen
gnomAD
rs375183552
CA579540
46 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579541
rs772292646
47 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA338688022
rs1288333151
47 P>S No ClinGen
TOPMed
CA579542
rs201460610
48 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA18267999
rs575482388
48 G>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs761335727
CA579543
49 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA338688045
rs1285777734
49 P>L No ClinGen
gnomAD
CA579544
rs771333173
50 S>P No ClinGen
ExAC
gnomAD
CA579545
rs777104550
51 Q>E No ClinGen
ExAC
CA579546
rs372828525
52 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1254275488
CA338688098
54 G>A No ClinGen
TOPMed
gnomAD
CA338688095
rs1191276574
54 G>C No ClinGen
gnomAD
rs1254275488
CA338688100
54 G>V No ClinGen
TOPMed
gnomAD
CA579547
rs147996327
56 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338688150
rs1455201082
58 H>Q No ClinGen
gnomAD
rs1361676211
CA338688147
58 H>R No ClinGen
gnomAD
rs1284389073
CA338688158
59 N>S No ClinGen
Ensembl
CA579552
rs757274612
60 M>I No ClinGen
ExAC
gnomAD
rs751064668
CA579551
60 M>T No ClinGen
ExAC
gnomAD
CA579550
rs376582075
60 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780968429
CA579553
61 T>S No ClinGen
ExAC
gnomAD
CA579554
rs369103530
62 P>S No ClinGen
ESP
ExAC
gnomAD
CA338688234
rs1334181455
65 S>F No ClinGen
gnomAD
rs143678952
COSM107955
CA18268048
66 P>L skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs556030521
CA579556
67 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA579557
rs556030521
67 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA338306055
rs1471186058
71 G>A No ClinGen
gnomAD
rs147138653
CA579586
72 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1453711526
CA338306071
73 A>T No ClinGen
gnomAD
CA338306092
rs1194429705
74 H>R No ClinGen
TOPMed
CA579587
rs781272283
74 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1394717339
CA338306098
75 R>G No ClinGen
TOPMed
rs996720320
CA17794845
75 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA579589
rs770277863
80 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1295680438
CA338306205
81 G>R No ClinGen
TOPMed
gnomAD
CA338306258
rs1230958597
84 S>F No ClinGen
TOPMed
gnomAD
CA579590
rs775888771
87 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1448580510
CA338306314
88 S>A No ClinGen
TOPMed
CA338306356
rs1316166323
91 N>D No ClinGen
gnomAD
rs749630439
CA579591
95 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA521126463
rs1252391051
97 S>* No ClinGen
gnomAD
rs796962282
CA17794873
97 S>A No ClinGen
Ensembl
rs1195688490
CA338306496
100 L>V No ClinGen
TOPMed
gnomAD
rs761471741
CA579594
101 S>T No ClinGen
ExAC
gnomAD
CA338306528
rs1418910074
102 R>C No ClinGen
gnomAD
CA17794885
rs758468672
102 R>H No ClinGen
gnomAD
CA17794888
rs986721397
106 M>T No ClinGen
TOPMed
rs1252567995
CA338306614
107 D>N No ClinGen
TOPMed
CA579596
rs772776170
109 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA338306638
rs1266417929
110 G>C No ClinGen
gnomAD
CA579598
rs766399484
113 C>R No ClinGen
ExAC
gnomAD
rs1180802154
CA338306666
114 E>G No ClinGen
TOPMed
rs747823244
CA579611
117 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA579612
rs371056737
118 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338308509
rs1202632309
120 V>M No ClinGen
gnomAD
CA579613
rs772650238
129 M>I No ClinGen
ExAC
gnomAD
rs890124876
CA338308573
129 M>L No ClinGen
TOPMed
gnomAD
CA17798530
rs890124876
129 M>V No ClinGen
TOPMed
gnomAD
CA338308591
rs1256108399
131 V>A No ClinGen
gnomAD
rs1172387586
CA338308613
134 N>S No ClinGen
TOPMed
rs765951687
CA579615
135 D>N No ClinGen
ExAC
gnomAD
rs760809804
COSM1472335
CA579616
COSM176684
136 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759485063
CA579617
140 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1014550088
CA17798539
140 R>W No ClinGen
TOPMed
gnomAD
CA579618
rs374692148
141 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1320716836
CA338308668
143 S>G No ClinGen
Ensembl
rs1397712772
CA338308670
143 S>N No ClinGen
TOPMed
TCGA novel 145 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762775537
CA579640
147 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1350555110
CA338309035
147 P>H No ClinGen
gnomAD
rs762775537
CA338309033
147 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA338309039
rs1201367463
148 S>P No ClinGen
gnomAD
CA579641
rs763757309
149 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA17799448
rs368280932
150 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA579643
rs368280932
150 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA579644
rs139159603
151 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1396475092
CA338309092
156 E>D No ClinGen
TOPMed
gnomAD
rs753903083
CA579645
158 A>T No ClinGen
ExAC
gnomAD
rs1557554136
CA338309106
158 A>V No ClinGen
Ensembl
rs372027851
CA579647
160 Q>K No ClinGen
ESP
ExAC
gnomAD
CA579648
rs753106906
162 V>G No ClinGen
ExAC
gnomAD
rs758817230
CA579649
163 C>F No ClinGen
ExAC
gnomAD
rs1329700818
CA338309163
167 R>C No ClinGen
TOPMed
rs777945500
CA579650
167 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs746660899
CA338309193
CA579651
171 K>N No ClinGen
ExAC
gnomAD
rs1333033161
CA338309204
173 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA579652
rs770698545
173 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA17799479
rs981064616
174 D>V No ClinGen
TOPMed
gnomAD
CA17799480
rs902609487
177 V>L No ClinGen
Ensembl
CA579655
rs376014052
182 S>F No ClinGen
ESP
ExAC
gnomAD
rs183958340
CA579656
184 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369303157
CA579657
185 A>P No ClinGen
ESP
ExAC
gnomAD
rs1361802523
CA338309295
187 F>L No ClinGen
gnomAD
rs1180842712
CA338309291
187 F>V No ClinGen
gnomAD
CA17799497
rs996397895
189 Q>E No ClinGen
TOPMed
CA338309313
rs1435682166
190 N>D No ClinGen
TOPMed
CA579660
rs200309857
191 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368654870
CA17799502
192 K>E No ClinGen
Ensembl
CA338309328
rs1417050614
192 K>R No ClinGen
gnomAD
CA579661
rs146544433
193 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338309332
rs1557554402
193 E>K No ClinGen
Ensembl
CA338309724
rs765367588
196 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA17800755
rs765367588
196 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA579683
rs765367588
196 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs377095783
CA579685
197 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377095783
CA338309731
197 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338309817
rs1226031810
203 G>S No ClinGen
gnomAD
CA579687
rs752009916
207 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1205613284
CA338309887
207 M>T No ClinGen
gnomAD
CA338309882
rs752009916
207 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA579688
rs757725666
210 L>I No ClinGen
ExAC
gnomAD
rs370526193
CA579689
212 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA17800776
rs867051886
212 M>T No ClinGen
Ensembl
rs1189924817
CA338309951
213 S>P No ClinGen
gnomAD
CA338309958
rs1179343540
214 T>A No ClinGen
gnomAD
CA579691
rs755718728
217 R>T No ClinGen
ExAC
gnomAD
CA579692
rs779674134
218 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA579693
rs748727008
225 L>V No ClinGen
ExAC
gnomAD
rs1169651943
CA338310103
226 T>P No ClinGen
gnomAD
CA579694
rs754986006
228 T>A No ClinGen
ExAC
gnomAD
CA17800809
rs941068670
230 Q>E No ClinGen
TOPMed
rs1481983038
CA338310170
231 P>A No ClinGen
TOPMed
rs778855245
CA579695
234 A>T No ClinGen
ExAC
gnomAD
CA338310221
rs1190022743
235 A>T No ClinGen
TOPMed
rs748033324
CA579696
235 A>V No ClinGen
ExAC
gnomAD
CA579698
rs772928952
237 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA579697
rs771871986
237 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA338310268
rs1366932212
238 S>L No ClinGen
gnomAD
CA338310274
rs1557557003
239 P>S No ClinGen
Ensembl
CA579699
rs746164686
241 R>S No ClinGen
ExAC
gnomAD
TCGA novel 243 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA579700
rs145174224
244 L>F No ClinGen
ESP
ExAC
TOPMed
rs367582496
CA579702
247 T>A No ClinGen
ExAC
gnomAD
CA579704
rs775019058
249 S>C No ClinGen
ExAC
gnomAD
CA338310440
rs1204646466
251 P>T No ClinGen
gnomAD
rs527831194
CA579706
252 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1570899058
CA338310471
254 S>G No ClinGen
Ensembl
CA338310476
rs1182376757
254 S>N No ClinGen
gnomAD
CA579707
rs750740322
255 P>S No ClinGen
ExAC
gnomAD
COSM1497578
rs760425310
COSM1497577
CA579708
256 M>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs939099104
CA17800913
257 F>L No ClinGen
TOPMed
gnomAD
CA338310539
rs1414831739
258 C>Y No ClinGen
TOPMed
rs745610889
CA579710
259 S>G No ClinGen
ExAC
gnomAD
CA338310565
rs150442851
260 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA579711
rs150442851
260 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338310619
rs1435151814
264 G>S No ClinGen
gnomAD
CA338310622
rs1366169996
264 G>V No ClinGen
TOPMed
CA338310672
rs1324860297
266 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA338310664
rs1324860297
266 S>T No ClinGen
gnomAD
rs945275338
CA17800940
268 L>F No ClinGen
TOPMed
CA338310848
rs1163576282
270 S>R No ClinGen
gnomAD
CA338310860
rs1391842082
271 L>F No ClinGen
gnomAD
rs1391842082
CA338310858
271 L>V No ClinGen
gnomAD
rs768868657
CA579720
272 Y>C No ClinGen
ExAC
gnomAD
CA17801147
rs373071786
273 E>K No ClinGen
ESP
CA338310926
rs1273592776
274 S>G No ClinGen
TOPMed
TCGA novel 274 S>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA579722
rs762476505
276 P>L No ClinGen
ExAC
gnomAD
CA579721
rs200980839
276 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773667051
CA579724
277 A>V No ClinGen
ExAC
gnomAD
CA17801166
rs1044848007
282 F>L No ClinGen
Ensembl
rs1443064741
CA338311153
283 W>R No ClinGen
TOPMed
CA338311194
rs753449921
284 S>I No ClinGen
ExAC
gnomAD
rs753449921
CA579727
284 S>N No ClinGen
ExAC
gnomAD
CA17801170
rs998210395
285 S>C No ClinGen
TOPMed
COSM333330
rs41280796
CA579728
287 P>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1223996573
CA338311264
287 P>S No ClinGen
gnomAD
CA338311289
rs1180455497
288 V>A No ClinGen
gnomAD
rs1003391370
CA17801183
288 V>M No ClinGen
TOPMed
CA579731
rs758376675
289 M>V No ClinGen
ExAC
gnomAD
rs891835027
CA17801195
290 G>C No ClinGen
TOPMed
CA17801197
rs199915638
290 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579732
rs199915638
290 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199643842
CA579733
291 P>L Variant assessed as Somatic; 0.0003712 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1366768691
CA338311399
292 S>A No ClinGen
TOPMed
rs780981252
CA579735
292 S>C No ClinGen
ExAC
gnomAD
CA579736
rs749525437
296 P>T No ClinGen
ExAC
gnomAD
CA579738
rs779183499
297 S>C No ClinGen
ExAC
gnomAD
CA579739
rs748208469
298 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs772153110
CA579740
298 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA579741
rs772153110
298 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA338311559
rs1570900429
306 P>S No ClinGen
Ensembl
rs1275368127
CA338311570
308 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA579744
rs374971203
309 P>L No ClinGen
ESP
ExAC
gnomAD
CA338311577
rs1307131638
309 P>S No ClinGen
gnomAD
rs759248268
CA579745
312 P>S No ClinGen
ExAC
gnomAD
rs1184294196
CA338311616
313 H>P No ClinGen
TOPMed
gnomAD
rs201579904
CA579746
314 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200554034
CA579747
315 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338311681
rs1172518666
317 S>F No ClinGen
gnomAD
rs549516957
CA579748
318 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs763608761
CA579749
319 T>S No ClinGen
ExAC
gnomAD
CA17801256
rs1020230213
321 A>V No ClinGen
TOPMed
CA579751
rs757149949
323 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs368465936
CA579752
324 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579755
rs755292165
328 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs755292165
CA579754
328 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA338311844
rs1403632654
328 P>S No ClinGen
gnomAD
CA579757
rs758423694
329 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA17801306
rs758423694
329 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA579758
rs758423694
329 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA17801293
rs975839657
329 R>W No ClinGen
TOPMed
gnomAD
rs372819662
CA579759
COSM1231580
331 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA579760
COSM893028
rs180983516
331 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
CA579762
rs746196068
334 T>A No ClinGen
ExAC
gnomAD
CA17801353
rs909148687
336 T>I No ClinGen
TOPMed
gnomAD
CA338311966
rs1343377721
336 T>S No ClinGen
gnomAD
COSM1720896
rs770101854
CA579763
337 H>Y NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA338312005
rs1290137167
338 P>L No ClinGen
TOPMed
CA17801363
rs960396416
339 W>* No ClinGen
TOPMed
rs1210226094
CA338312008
339 W>R No ClinGen
gnomAD
rs1229151955
CA338312030
340 A>G No ClinGen
TOPMed
rs201736832
CA579766
341 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371947163
CA579767
343 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767458720
CA579769
344 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA338312107
rs1570900953
347 L>M No ClinGen
Ensembl
rs752419508
CA579770
348 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA338312121
rs1334950644
348 S>P No ClinGen
TOPMed
gnomAD
CA17801365
rs752419508
348 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1322873106
CA338312127
349 S>R No ClinGen
gnomAD
CA17801370
rs979260168
351 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 352 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755996153
CA579772
353 P>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 353 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA579771
rs755996153
353 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs769331364
CA17801375
354 P>A No ClinGen
Ensembl
rs752975297
CA579773
356 L>F No ClinGen
ExAC
gnomAD
CA338312206
rs1284141946
357 A>D No ClinGen
gnomAD
rs772803836
CA338312205
357 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs772803836
CA579775
357 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs571542206
CA579776
358 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569201111
CA17801381
359 S>I No ClinGen
Ensembl
CA579777
rs757748660
360 P>R No ClinGen
ExAC
gnomAD
CA338312225
rs1306446208
360 P>S No ClinGen
TOPMed
rs1248326290
CA338312232
361 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA338312238
rs1315234603
362 A>P No ClinGen
TOPMed
COSM1332023
CA579779
rs746328640
365 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs770159407
CA579780
365 A>V No ClinGen
ExAC
gnomAD
rs1157977899
CA338312259
366 S>G No ClinGen
gnomAD
rs1409644352
CA338312278
368 S>C No ClinGen
gnomAD
CA338312277
rs1409644352
368 S>Y No ClinGen
gnomAD
rs1266275834
CA338312282
369 R>K No ClinGen
TOPMed
rs1263339779
CA338312291
370 Q>R No ClinGen
gnomAD
COSM462481
CA579782
rs375249164
371 R>K kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369581649
CA579783
371 R>S No ClinGen
ESP
ExAC
rs539367551
CA579781
371 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 372 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338312343
rs1389681861
374 S>I No ClinGen
gnomAD
rs773782785
CA579784
375 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA579786
rs536600344
376 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1437601166
CA338312377
377 P>S No ClinGen
gnomAD
CA579788
rs547751822
380 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1188169792
CA338312450
382 A>G No ClinGen
TOPMed
gnomAD
COSM1332024
rs548707778
CA579792
382 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA579793
rs751695840
383 S>L No ClinGen
ExAC
gnomAD
CA579794
rs757383030
384 P>A No ClinGen
ExAC
gnomAD
COSM326804
rs1367587731
CA338312476
384 P>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA338312469
rs757383030
384 P>S No ClinGen
ExAC
gnomAD
CA338312488
rs1479959631
385 S>I No ClinGen
TOPMed
gnomAD
rs1479959631
CA338312490
385 S>N No ClinGen
TOPMed
gnomAD
CA579796
rs371276917
386 A>G No ClinGen
ESP
ExAC
gnomAD
CA579797
rs371276917
386 A>V No ClinGen
ESP
ExAC
gnomAD
rs780456251
CA579799
387 T>M No ClinGen
ExAC
gnomAD
rs1184471236
CA338312514
387 T>S No ClinGen
gnomAD
rs1457446119
CA338312545
389 R>K No ClinGen
gnomAD
rs749641898
CA579800
390 R>C No ClinGen
ExAC
gnomAD
rs768862044
CA579801
390 R>H No ClinGen
ExAC
gnomAD
rs1557558553
CA338312601
393 S>Y No ClinGen
Ensembl
rs374799748
CA579803
394 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338312633
rs369759551
396 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579804
rs369759551
396 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772841228
CA338312653
397 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs772841228
CA579805
397 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs575934269
CA579840
402 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338316857
rs1331531405
404 G>S No ClinGen
gnomAD
CA579841
rs765689091
405 G>R No ClinGen
ExAC
gnomAD
rs752979773
CA579842
405 G>V No ClinGen
ExAC
gnomAD
CA338316915
rs1193278015
407 S>T No ClinGen
gnomAD
CA579843
rs372287496
408 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579844
rs777596249
412 Y>C No ClinGen
ExAC
gnomAD
rs898101568
CA17806482
412 Y>H No ClinGen
TOPMed
gnomAD
CA338317103
rs1457281098
415 H>Y No ClinGen
gnomAD
rs1163695672
CA338317212
418 I>T No ClinGen
TOPMed
gnomAD
CA579846
rs756845127
420 T>I No ClinGen
ExAC
gnomAD
CA579847
rs780504581
424 T>R No ClinGen
ExAC
gnomAD
CA579848
rs745887037
425 D>G No ClinGen
ExAC
gnomAD
CA338317467
rs1407878978
426 M>R No ClinGen
TOPMed
gnomAD
CA338317474
rs1407878978
426 M>T No ClinGen
TOPMed
gnomAD
rs1290108208
CA338317541
429 Y>C No ClinGen
gnomAD
CA579850
rs775406556
430 L>F No ClinGen
ExAC
gnomAD
rs993664560
CA17806513
431 I>V No ClinGen
Ensembl
rs1478451598
CA338317596
432 E>K No ClinGen
TOPMed
CA338317628
rs768400495
433 C>G No ClinGen
ExAC
gnomAD
rs768400495
CA579852
433 C>S No ClinGen
ExAC
gnomAD
rs1336891073
CA338317655
435 D>Y No ClinGen
TOPMed
CA338317680
rs1435841467
436 R>Q No ClinGen
gnomAD
CA338317710
rs1320070477
438 G>* No ClinGen
gnomAD
CA579854
rs760819326
438 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA338317733
rs1292896031
439 I>K No ClinGen
gnomAD
rs1483031638
CA338317745
440 E>K No ClinGen
gnomAD
CA579856
rs143511579
COSM1269641
COSM1269642
441 E>G oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA338317779
rs1557569244
441 E>K No ClinGen
Ensembl
rs1470251095
CA338317831
443 K>R No ClinGen
gnomAD
rs758215455 444 A>H Variant assessed as Somatic; 4.901e-05 impact. [NCI-TCGA] No NCI-TCGA
rs776558973
CA579857
444 A>T No ClinGen
ExAC
rs983877167
CA17806553
446 K>E No ClinGen
gnomAD
rs1420153679
CA338318028
447 M>T No ClinGen
gnomAD
rs1448847933
CA338318026
447 M>V No ClinGen
TOPMed
CA17807752
rs922947993
448 C>W No ClinGen
Ensembl
CA579878
rs138638392
449 S>G No ClinGen
ESP
ExAC
gnomAD
CA579879
rs371698194
450 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579881
rs776157937
456 L>F No ClinGen
ExAC
gnomAD
CA579882
rs148471735
460 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751961761
CA579884
461 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA579885
rs761577852
461 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761577852
CA579886
461 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA579888
rs755602888
463 Q>H No ClinGen
ExAC
gnomAD
CA338318142
rs1164931637
464 C>F No ClinGen
Ensembl
rs1219200976
CA338318160
467 H>Y No ClinGen
TOPMed
gnomAD
rs1313503255
CA338318170
468 T>I No ClinGen
gnomAD
CA579889
rs779472115
468 T>S No ClinGen
ExAC
gnomAD
rs753839442
CA579890
469 A>V No ClinGen
ExAC
gnomAD
CA17807852
rs917921765
473 Q>P No ClinGen
gnomAD
rs917921765
CA17807858
473 Q>R No ClinGen
gnomAD
CA579894
rs771856770
478 Q>E No ClinGen
ExAC
gnomAD
CA338318308
rs1317155363
479 P>L No ClinGen
TOPMed
rs1406043582
CA338319378
481 S>F No ClinGen
gnomAD
rs1281607603
CA338319437
482 L>F No ClinGen
TOPMed
rs1169056154
CA338319456
483 Q>* No ClinGen
TOPMed
gnomAD
CA338319448
rs1169056154
483 Q>K No ClinGen
TOPMed
gnomAD
CA338319459
rs149760840
483 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579914
rs149760840
483 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579915
rs756393620
485 P>L No ClinGen
ExAC
gnomAD
CA17808889
rs868860717
485 P>S No ClinGen
Ensembl
CA579917
rs749349715
490 P>L No ClinGen
ExAC
gnomAD
rs780332508
CA579916
490 P>S No ClinGen
ExAC
gnomAD
CA338319697
rs1490443808
492 M>V No ClinGen
gnomAD
CA338319770
rs1204411594
495 R>G No ClinGen
gnomAD
rs1490043437
CA338319957
500 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA338320014
rs1471691473
502 I>L No ClinGen
gnomAD
rs1184000477
CA338320063
503 Q>L No ClinGen
gnomAD
CA338320268
rs1472686637
511 Q>* No ClinGen
TOPMed
rs1364616583
CA338320294
512 D>N No ClinGen
gnomAD
CA579939
rs755122750
519 I>V No ClinGen
ExAC
gnomAD
CA579940
rs370043403
520 F>C No ClinGen
ESP
ExAC
gnomAD
CA579941
rs748661352
522 P>R No ClinGen
ExAC
gnomAD
CA579942
rs375335781
523 I>M No ClinGen
ESP
ExAC
gnomAD
CA579943
rs367994851
524 L>* No ClinGen
ESP
ExAC
gnomAD
CA579944
rs567295259
525 Q>R No ClinGen
1000Genomes
ExAC
rs143784553
CA17815040
532 K>I No ClinGen
ESP
gnomAD
CA338322275
rs143784553
532 K>R No ClinGen
ESP
gnomAD
TCGA novel 532 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA579946
rs776275736
534 C>R No ClinGen
ExAC
gnomAD
rs764797641
CA579948
537 D>A No ClinGen
ExAC
gnomAD
CA579947
rs373796395
537 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA579949
rs376349016
538 S>N No ClinGen
ESP
ExAC
gnomAD
CA338322377
rs1201832847
540 Y>S No ClinGen
TOPMed
CA338322407
rs1245203502
542 K>T No ClinGen
gnomAD
CA579951
rs764065405
544 P>A No ClinGen
ExAC
gnomAD
CA338322432
rs1188352432
544 P>R No ClinGen
gnomAD
CA338322430
rs764065405
544 P>S No ClinGen
ExAC
gnomAD
rs754118135
CA579955
545 L>F No ClinGen
ExAC
gnomAD
CA579956
rs755237157
545 L>P No ClinGen
ExAC
gnomAD
rs777644646
CA579977
547 A>T No ClinGen
ExAC
gnomAD
rs1216982603
CA338322567
548 L>R No ClinGen
gnomAD
CA338322564
rs1318897112
548 L>V No ClinGen
TOPMed
gnomAD
CA579978
rs752124501
549 G>A No ClinGen
ExAC
gnomAD
rs752124501
CA338322572
549 G>V No ClinGen
ExAC
gnomAD
CA579980
rs781588366
561 P>A No ClinGen
ExAC
gnomAD
rs1482482521
CA338323667
561 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs746204283
CA579981
564 N>S No ClinGen
ExAC
gnomAD
CA580013
rs774520660
566 V>A No ClinGen
ExAC
gnomAD
COSM1332043
CA580017
rs541907403
COSM1332042
570 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs142704128
CA580015
570 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61760196
CA580018
571 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754119546
CA580019
574 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA580020
rs755327612
576 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1243402312
CA338324419
581 C>R No ClinGen
TOPMed
CA580021
rs200546136
583 R>Q No ClinGen
1000Genomes
ExAC
TCGA novel 584 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747743981
CA580022
587 R>G No ClinGen
ExAC
gnomAD
CA338324630
rs1175733084
587 R>T No ClinGen
gnomAD
rs776532939
CA580027
593 A>T No ClinGen
ExAC
gnomAD
rs373123755
CA17817734
594 F>L No ClinGen
ESP
gnomAD
CA338324914
rs1363199002
595 F>L No ClinGen
TOPMed
gnomAD
VAR_052437
CA580046
rs17034499
605 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA17817897
rs906687718
610 K>R No ClinGen
TOPMed
gnomAD
CA580047
rs779820380
611 Y>C No ClinGen
ExAC
gnomAD
CA338325376
rs779820380
611 Y>S No ClinGen
ExAC
gnomAD
TCGA novel 613 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338325414
rs1270944723
613 S>P No ClinGen
gnomAD
rs748429885
CA580048
614 G>R No ClinGen
ExAC
gnomAD
rs772260738
CA580049
614 G>V No ClinGen
ExAC
gnomAD
CA338325466
rs1468758524
616 A>T No ClinGen
gnomAD
CA338325493
rs374640200
617 I>L No ClinGen
ESP
TOPMed
gnomAD
CA17817922
rs374640200
617 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
TCGA novel 621 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777007475
CA580053
623 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA580054
rs760112995
623 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA580056
rs200835267
626 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1279750341
CA338325785
629 L>M No ClinGen
gnomAD
rs866924603
CA17818035
636 G>R No ClinGen
gnomAD
rs1249527362
CA338326994
638 Q>* No ClinGen
gnomAD
rs1337605952
CA338327119
642 K>Q No ClinGen
gnomAD
rs1197555324
CA338327269
646 S>N No ClinGen
gnomAD
CA338327375
rs1448017336
651 G>C No ClinGen
TOPMed
TCGA novel 652 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338327430
rs1557582877
654 R>C No ClinGen
Ensembl
rs1245402151
CA338327431
654 R>H No ClinGen
gnomAD
CA338327484
rs1445597981
656 A>T No ClinGen
gnomAD
CA580074
rs746423754
657 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 658 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 659 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580076
rs776102839
662 A>E No ClinGen
ExAC
gnomAD
rs776102839
CA580077
662 A>V No ClinGen
ExAC
gnomAD
rs766800561
CA17819360
663 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA338327627
rs950908669
664 V>F No ClinGen
gnomAD
CA17819365
rs950908669
664 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM180514
rs140051271
CA580079
665 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1406616128
CA338327658
666 N>S No ClinGen
gnomAD
CA17819380
rs982489028
668 N>H No ClinGen
Ensembl
TCGA novel 668 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338327713
rs1381432709
669 M>K No ClinGen
gnomAD
rs1357461969
CA338327709
669 M>V No ClinGen
gnomAD
rs766995114
CA580081
672 A>T No ClinGen
ExAC
gnomAD
TCGA novel 673 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 676 T>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756270935
CA580110
676 T>P No ClinGen
ExAC
gnomAD
rs199753032
CA17821437
678 D>G No ClinGen
Ensembl
rs1334623481
CA338329111
680 L>S No ClinGen
TOPMed
rs1304982545
CA338329163
682 S>C No ClinGen
gnomAD
rs150774269
CA580113
687 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1319175278
CA338329749
702 K>R No ClinGen
gnomAD
rs919140231
CA17821495
705 T>I No ClinGen
TOPMed
CA580117
rs772854315
708 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA338329942
rs772854315
708 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA580119
rs370876093
709 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338329957
rs1557585349
709 T>S No ClinGen
Ensembl
TCGA novel 710 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175182172
CA338329996
711 I>V No ClinGen
gnomAD
CA580122
rs765248938
714 P>S No ClinGen
ExAC
gnomAD
CA580123
rs752526141
715 R>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA580124
rs762822879
717 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1426516833
CA338330102
720 L>I No ClinGen
gnomAD
rs1164105697
CA338330115
721 P>S No ClinGen
gnomAD
CA580125
RCV000958811
rs138056371
722 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1461540113
CA338330216
725 T>M No ClinGen
gnomAD
CA580127
rs756395634
726 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs780330455
CA580128
726 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1355134346
CA338330278
728 N>S No ClinGen
TOPMed
CA17821577
rs147799328
730 T>A No ClinGen
ESP
TOPMed
CA580129
rs753923979
730 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 732 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338330428
rs1570955194
734 V>M No ClinGen
Ensembl
rs1324035208
CA338330473
736 D>Y No ClinGen
gnomAD
rs772492315
CA580133
740 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA338331066
rs1210485399
742 Y>C No ClinGen
TOPMed
gnomAD
rs1188166848
CA338331121
746 P>R No ClinGen
gnomAD
rs564326522
CA580152
751 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1174517541
CA338331216
754 P>S No ClinGen
Ensembl
TCGA novel 755 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580155
rs780909483
755 T>S No ClinGen
ExAC
gnomAD
TCGA novel 757 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580158
rs774852956
758 F>L No ClinGen
ExAC
gnomAD
rs749292041
CA580159
763 H>R No ClinGen
ExAC
gnomAD
rs1280988975
CA338331347
764 A>T No ClinGen
gnomAD
CA580161
rs774391546
767 L>F No ClinGen
ExAC
gnomAD
rs761724316
CA580162
769 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767351956
CA580163
771 P>L No ClinGen
ExAC
gnomAD
CA580164
rs776977489
772 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs988927151
CA17823189
772 S>N No ClinGen
gnomAD
TCGA novel 772 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759661609
CA580165
773 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs765404233
CA580166
COSM1185305
COSM1185306
774 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA580167
rs765404233
774 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs546373910
CA580168
774 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764605475
CA580169
775 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 775 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580171
rs757625036
778 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM3801066
rs781407095
COSM3801065
CA580172
778 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA580174
rs755700547
781 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA580173
rs144897486
781 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1570959496
CA338331621
783 I>M No ClinGen
Ensembl
CA580175
rs565863201
783 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377196706
CA17823274
784 R>Q No ClinGen
ESP
TOPMed
gnomAD
rs141750784
CA580176
784 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA580177
rs369929304
787 N>S No ClinGen
ESP
ExAC
gnomAD
CA338333504
rs1272589452
791 E>Q No ClinGen
gnomAD
CA580201
rs777726502
794 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA338333549
rs1436247864
794 K>R No ClinGen
TOPMed
gnomAD
rs746801529
CA580202
796 N>K No ClinGen
ExAC
gnomAD
CA338333572
rs1239218510
796 N>T No ClinGen
TOPMed
gnomAD
CA17828683
rs78150027
798 S>G No ClinGen
Ensembl
TCGA novel 800 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580203
rs376007292
801 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1177145651
CA338333649
801 K>R No ClinGen
gnomAD
TCGA novel 802 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338333687
rs1433269361
804 P>L No ClinGen
TOPMed
rs775692397
CA580204
804 P>S No ClinGen
ExAC
gnomAD
rs1174694276
CA338333689
805 L>V No ClinGen
TOPMed
TCGA novel 806 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580205
rs763160034
807 T>A No ClinGen
ExAC
gnomAD
rs768783317
CA580206
808 R>K No ClinGen
ExAC
gnomAD
rs1393919994
CA338333712
809 H>Y No ClinGen
gnomAD
rs774392667
CA580207
810 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA580208
rs762423683
810 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1450102967
CA338333724
COSM893055
COSM893054
811 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA338333738
rs1387712717
812 M>I No ClinGen
TOPMed
rs750897247
CA580210
COSM423327
COSM423326
815 R>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs760964695
CA580211
815 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs766702266
CA580212
816 C>F No ClinGen
ExAC
gnomAD
CA17828742
rs777906682
816 C>R No ClinGen
Ensembl
rs753600433
CA580213
818 T>I No ClinGen
ExAC
gnomAD
CA17830022
rs765005672
822 K>R No ClinGen
Ensembl
TCGA novel 823 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580229
rs773600728
824 V>I No ClinGen
ExAC
gnomAD
rs761228558
CA580230
825 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA338335005
rs1323039408
825 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1453171433
CA338335020
826 C>Y No ClinGen
TOPMed
CA338335128
rs1205119496
831 D>G No ClinGen
gnomAD
rs759935288
CA580233
836 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs752336416
CA580235
837 E>K No ClinGen
ExAC
gnomAD
CA580237
rs763653818
844 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA580240
rs781006256
856 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM180522
CA580241
rs148514322
856 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148514322
CA580242
856 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338335658
rs1238567744
859 D>V No ClinGen
TOPMed
rs779124753
CA580243
860 P>S No ClinGen
ExAC
rs779124753
CA17830079
860 P>T No ClinGen
ExAC
rs147329205
COSM674705
CA580245
COSM674706
861 A>T lung kidney Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA338335734
rs1332109951
863 P>L No ClinGen
gnomAD
CA338335746
rs1356416013
864 D>G No ClinGen
gnomAD
CA580247
rs747506937
864 D>N No ClinGen
ExAC
gnomAD
CA580248
rs747506937
864 D>Y No ClinGen
ExAC
gnomAD
rs1480085038
CA338335974
865 I>V No ClinGen
gnomAD
TCGA novel 870 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1440066323
CA338336107
872 D>E No ClinGen
gnomAD
CA338336122
rs1182985715
873 V>A No ClinGen
gnomAD
CA580268
rs777281743
875 K>R No ClinGen
ExAC
gnomAD
CA17831571
rs1025826717
876 V>G No ClinGen
Ensembl
CA580270
rs770338844
879 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762555563
CA580273
880 L>F No ClinGen
ExAC
gnomAD
CA338336270
rs1312775556
881 P>S No ClinGen
TOPMed
rs1402990661
CA338336362
885 V>I No ClinGen
gnomAD
rs1402990661
CA338336356
885 V>L No ClinGen
gnomAD
CA580274
rs773827691
889 A>T No ClinGen
ExAC
gnomAD
rs1377561774
CA338336523
892 L>F No ClinGen
gnomAD
CA338336528
rs1210480518
893 F>L No ClinGen
TOPMed
CA580275
rs761330124
896 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1050906858
CA17832486
901 Q>H No ClinGen
TOPMed
rs201222800
CA580289
901 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338337664
rs201222800
901 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 902 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580290
rs200375353
902 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs761454523
CA580292
906 P>S No ClinGen
ExAC
gnomAD
TCGA novel
rs1241379901
CA338337749
913 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA580293
rs771630942
915 L>F No ClinGen
ExAC
gnomAD
rs771630942
CA580294
915 L>I No ClinGen
ExAC
gnomAD
rs1191534489
CA338337763
916 V>I No ClinGen
gnomAD
CA580295
rs760134669
918 M>T No ClinGen
ExAC
gnomAD
rs1570987183
CA338337810
922 Q>R No ClinGen
Ensembl
rs1478295055
CA338337816
923 N>D No ClinGen
gnomAD
rs1423580634
CA338337839
926 R>Q No ClinGen
gnomAD
CA17832507
rs914491325
928 P>A No ClinGen
TOPMed
gnomAD
rs914491325
CA338337851
928 P>S No ClinGen
TOPMed
gnomAD
CA338337886
rs1177437032
933 K>R No ClinGen
gnomAD
CA580298
rs759379212
937 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 940 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764937209
CA580299
943 P>S No ClinGen
ExAC
gnomAD
CA338337979
rs751886108
945 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs751886108
CA580300
945 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA338337989
rs1570987305
946 Q>E No ClinGen
Ensembl
CA17832525
rs140232669
948 R>Q No ClinGen
ESP
TOPMed
COSM1332056
CA338338102
COSM1332057
rs1437013074
952 F>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA580304
rs750564902
960 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA580305
rs531190869
961 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs375956063
CA338338327
964 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 966 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338338354
rs1365239973
967 V>I No ClinGen
TOPMed
rs1192091400
CA338338415
972 K>R No ClinGen
gnomAD
TCGA novel 978 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338310861
rs1381410939
991 T>K No ClinGen
gnomAD
CA580324
rs766368360
999 I>T No ClinGen
ExAC
gnomAD
TCGA novel 1000 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754431540
CA580325
1006 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1330254020
CA338311204
1007 I>V No ClinGen
gnomAD
rs755420565
CA580326
1008 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA580327
rs779293010
1009 H>L No ClinGen
ExAC
gnomAD
CA338311268
rs1339758357
1010 H>R No ClinGen
gnomAD
CA338311285
rs748532186
1011 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs748532186
CA580328
1011 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1389705660
CA338311350
1015 E>K No ClinGen
TOPMed
CA17807554
rs917907372
1018 N>S No ClinGen
gnomAD
rs1442510858
CA338311610
1019 S>A No ClinGen
gnomAD
CA580351
rs778096765
1021 K>R No ClinGen
ExAC
gnomAD
CA580352
rs746724659
1025 R>C No ClinGen
ExAC
gnomAD
CA338311685
rs1464581894
1025 R>L No ClinGen
TOPMed
TCGA novel 1033 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866070652
CA17809490
1034 T>K No ClinGen
Ensembl
rs780856519
CA580354
1038 L>V No ClinGen
ExAC
rs1402759807
CA338311837
1039 D>N No ClinGen
gnomAD
rs768633616
CA580359
1047 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1049 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338311969
rs1347765504
1051 V>A No ClinGen
TOPMed
CA338311963
rs1296558041
1051 V>M No ClinGen
gnomAD
CA580360
rs773999476
1054 E>G No ClinGen
ExAC
rs556033322
CA17809554
1055 M>V No ClinGen
1000Genomes
TCGA novel 1057 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338312065
rs1330890275
1058 K>R No ClinGen
gnomAD
rs377001392
CA580361
1059 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768246347
CA17809564
1060 Q>H No ClinGen
TOPMed
gnomAD
rs771093729
CA580363
CA580362
1063 Q>H No ClinGen
ExAC
gnomAD
rs753259261
CA580366
1066 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs371058351
CA580365
COSM462486
COSM462485
1066 R>W kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA338313618
rs1295495448
1072 R>C No ClinGen
gnomAD
rs762089422
CA580387
1072 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1337175735
CA338313625
1073 Q>R No ClinGen
gnomAD
CA580388
rs767921206
1074 S>F No ClinGen
ExAC
gnomAD
rs147961171
CA580389
1075 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338313639
rs1379704266
1075 Q>L No ClinGen
gnomAD
TCGA novel 1077 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338313658
rs1298952742
1078 Q>L No ClinGen
TOPMed
TCGA novel 1078 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580391
rs779753357
1081 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs779753357
CA338313681
1081 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1246619063
CA338313682
1082 V>L No ClinGen
gnomAD
rs753434706
CA580392
1083 S>C No ClinGen
ExAC
gnomAD
CA580393
rs754492212
1084 R>C No ClinGen
ExAC
gnomAD
CA580394
rs778716631
1084 R>H No ClinGen
ExAC
gnomAD
rs748108497
CA580395
1085 S>C No ClinGen
ExAC
gnomAD
rs1181189771
COSM1497558
CA338313717
COSM1497559
1088 A>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1181189771
CA338313718
1088 A>T No ClinGen
gnomAD
CA338313753
rs1202074678
1094 V>M No ClinGen
TOPMed
gnomAD
CA580400
rs775639481
1096 M>V No ClinGen
ExAC
gnomAD
CA580401
rs749385011
1099 I>L No ClinGen
ExAC
gnomAD
rs774789457
CA580403
1103 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA580404
rs774789457
1103 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1302772316
CA338313823
1104 V>I No ClinGen
gnomAD
CA338313833
rs1397210373
1105 Q>R No ClinGen
gnomAD
rs1339402125
CA338313860
1109 L>F No ClinGen
gnomAD
CA17815683
rs973250236
1111 P>L No ClinGen
gnomAD
COSM1560156
CA338315102
rs1478970742
COSM1560157
1116 R>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA338315137
rs1299139816
1119 A>G No ClinGen
gnomAD
CA338315135
rs1191645442
1119 A>T No ClinGen
TOPMed
CA338315144
rs1466851312
1120 M>V No ClinGen
gnomAD
CA580425
rs761137792
1128 L>F No ClinGen
ExAC
gnomAD
CA580426
rs1801442
1134 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA17818172
rs1801442
1134 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA17818182
rs201844344
1134 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA338315444
rs1400832784
1135 D>N No ClinGen
TOPMed
gnomAD
CA17818185
rs776476371
CA580427
1140 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs764690277
CA580429
1142 E>D No ClinGen
ExAC
gnomAD
CA17818193
rs906670644
1145 G>R No ClinGen
Ensembl
rs1174804105
CA338316004
1151 L>M No ClinGen
gnomAD
CA17818235
rs945483903
1154 Q>K No ClinGen
TOPMed
gnomAD
rs1278593832
CA338316326
1161 Q>H No ClinGen
gnomAD
CA17818271
rs1011230836
1165 A>S No ClinGen
Ensembl
CA338316401
rs1435267736
1166 R>Q No ClinGen
gnomAD
rs757111718
CA338316431
1167 F>L No ClinGen
ExAC
gnomAD
CA17818282
rs371129617
1168 A>V No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 1170 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557622523 1177 S>* No Ensembl
rs1237918283
CA338318796
1179 S>C No ClinGen
TOPMed
gnomAD
rs1237918283
CA338318797
1179 S>G No ClinGen
TOPMed
gnomAD
rs1456860326
CA338318818
1181 E>D No ClinGen
TOPMed
gnomAD
rs1184581322
CA338318845
1185 E>* No ClinGen
gnomAD
CA580455
rs779212741
1187 I>T No ClinGen
ExAC
gnomAD
CA338318858
rs1472139001
1187 I>V No ClinGen
gnomAD
TCGA novel 1188 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1190 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1188510591
CA338318888
1191 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA338318887
rs1419508654
1191 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA338318895
rs1388831889
1192 K>R No ClinGen
TOPMed
TCGA novel 1194 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758559091
CA580457
1198 T>I No ClinGen
ExAC
gnomAD
CA338318940
COSM1497552
rs1411650159
COSM1497553
1199 I>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA580459
rs759888990
1199 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs923293413
CA17826209
1201 I>T No ClinGen
Ensembl
rs746256550
CA580462
1201 I>V No ClinGen
ExAC
gnomAD
TCGA novel 1202 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580465
rs762500508
1208 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762500508
CA580466
1208 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA17826279
COSM1686973
COSM1686974
rs145582816
1209 E>K skin [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
CA580468
rs761275193
1211 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA580469
rs767467963
1213 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA338319035
rs1557622724
1213 E>D No ClinGen
Ensembl
rs374628108
CA580471
1216 A>T No ClinGen
ESP
ExAC
gnomAD
CA338319068
rs143854107
1218 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs562708221
CA580473
1219 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA580474
rs143909066
1219 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA17826333
rs754186357
1220 R>C No ClinGen
gnomAD
rs764368845
CA580475
1220 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757353202
CA580477
1221 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs781724601
CA580478
1223 I>V No ClinGen
ExAC
gnomAD
rs756559591
CA580480
1224 D>N No ClinGen
ExAC
gnomAD
CA338319123
rs1277727339
1226 S>G No ClinGen
gnomAD
CA17826355
rs1020916816
1227 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1271316749
CA338319156
1228 A>T No ClinGen
gnomAD
CA17826900
rs780161718
1239 T>N No ClinGen
Ensembl
CA580508
rs770793491
1240 L>V No ClinGen
ExAC
gnomAD
rs1288840633
CA338319554
1243 D>E No ClinGen
gnomAD
CA338319586
rs1287279388
1244 P>R No ClinGen
TOPMed
CA580511
rs765118779
1245 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1264482027
CA338319608
1246 R>Q No ClinGen
TOPMed
gnomAD
rs774771590
CA580512
1247 L>V No ClinGen
ExAC
gnomAD
TCGA novel 1249 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338319724
rs1457279187
1252 I>N No ClinGen
gnomAD
rs1321034789
CA338319793
1254 D>E No ClinGen
TOPMed
rs767677267
CA580514
COSM180527
1255 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144332718
CA580515
1257 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1259 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338319911
rs1484052240
1259 L>R No ClinGen
TOPMed
CA17826963
rs1035052912
1260 R>L No ClinGen
Ensembl
TCGA novel 1260 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1571047835
CA338319935
1261 H>P No ClinGen
Ensembl
rs146686475
CA580516
1266 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338320052
rs1413198234
1266 P>L No ClinGen
TOPMed
rs146686475
CA338320042
1266 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766812302
CA580517
1267 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA17827013
rs15191
1269 P>T No ClinGen
Ensembl
TCGA novel 1270 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1231577
rs758014435
COSM1231576
CA580522
1274 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1275 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746513099
CA580524
1276 T>A No ClinGen
ExAC
gnomAD
CA580525
rs770405723
1276 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1277 E>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA580550
rs768438112
1283 V>A No ClinGen
ExAC
gnomAD
rs773361650
CA580551
1284 P>L No ClinGen
ExAC
gnomAD
CA338320697
rs1258464548
1288 E>A No ClinGen
gnomAD
CA338320702
rs1485770254
1288 E>D No ClinGen
gnomAD
CA580552
rs760943458
1289 Q>R No ClinGen
ExAC
gnomAD
rs1456468035
CA338320747
1291 Q>L No ClinGen
TOPMed
CA580553
rs771034338
1292 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA580555
rs759576338
1294 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs1173487668
CA338320825
1294 M>V No ClinGen
gnomAD
rs1407219381
CA338320857
1295 R>T No ClinGen
TOPMed
CA338320895
rs1388734170
1296 E>D No ClinGen
gnomAD
CA338320868
rs765741134
1296 E>K No ClinGen
ExAC
gnomAD
rs765741134
CA580556
1296 E>Q No ClinGen
ExAC
gnomAD
rs775921159
CA580557
1299 N>S No ClinGen
ExAC
gnomAD
CA338321002
rs140883136
1300 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1403368995
CA338321020
1301 D>N No ClinGen
TOPMed

No associated diseases with O95155

2 regional properties for O95155

Type Name Position InterPro Accession
domain U-box domain 1227 - 1300 IPR003613
domain Ubiquitin conjugation factor E4, core 591 - 1212 IPR019474

Functions

Description
EC Number 2.3.2.27 Aminoacyltransferases
Subcellular Localization
  • Cytoplasm
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ubiquitin ligase complex A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

2 GO annotations of molecular function

Name Definition
enzyme binding Binding to an enzyme, a protein with catalytic activity.
ubiquitin-ubiquitin ligase activity Isoenergetic transfer of ubiquitin from one protein to an existing ubiquitin chain via the reaction X-ubiquitin + Y-ubiquitin -> Y-ubiquitin-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue.

6 GO annotations of biological process

Name Definition
granzyme-mediated apoptotic signaling pathway The series of molecular signals induced by granzymes which triggers the apoptotic death of a cell. The pathway starts with reception of a granzyme signal, and ends when the execution phase of apoptosis is triggered. Granzymes are serine proteases that are secreted by cytotoxic T cells and natural killer cells to induce apoptosis in target cells.
proteasome-mediated ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein polyubiquitination Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
response to UV Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
ubiquitin-dependent ERAD pathway The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.
ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O94941 UBOX5 RING finger protein 37 Homo sapiens (Human) PR
Q9ES00 Ube4b Ubiquitin conjugation factor E4 B Mus musculus (Mouse) PR
10 20 30 40 50 60
MEELSADEIR RRRLARLAGG QTSQPTTPLT SPQRENPPGP PIAASAPGPS QSLGLNVHNM
70 80 90 100 110 120
TPATSPIGAS GVAHRSQSSE GVSSLSSSPS NSLETQSQSL SRSQSMDIDG VSCEKSMSQV
130 140 150 160 170 180
DVDSGIENME VDENDRREKR SLSDKEPSSG PEVSEEQALQ LVCKIFRVSW KDRDRDVIFL
190 200 210 220 230 240
SSLSAQFKQN PKEVFSDFKD LIGQILMEVL MMSTQTRDEN PFASLTATSQ PIAAAARSPD
250 260 270 280 290 300
RNLLLNTGSN PGTSPMFCSV ASFGASSLSS LYESSPAPTP SFWSSVPVMG PSLASPSRAA
310 320 330 340 350 360
SQLAVPSTPL SPHSAASGTA AGSQPSSPRY RPYTVTHPWA SSGVSILSSS PSPPALASSP
370 380 390 400 410 420
QAVPASSSRQ RPSSTGPPLP PASPSATSRR PSSLRISPSL GASGGASNWD SYSDHFTIET
430 440 450 460 470 480
CKETDMLNYL IECFDRVGIE EKKAPKMCSQ PAVSQLLSNI RSQCISHTAL VLQGSLTQPR
490 500 510 520 530 540
SLQQPSFLVP YMLCRNLPYG FIQELVRTTH QDEEVFKQIF IPILQGLALA AKECSLDSDY
550 560 570 580 590 600
FKYPLMALGE LCETKFGKTH PVCNLVASLR LWLPKSLSPG CGRELQRLSY LGAFFSFSVF
610 620 630 640 650 660
AEDDVKVVEK YFSGPAITLE NTRVVSQSLQ HYLELGRQEL FKILHSILLN GETREAALSY
670 680 690 700 710 720
MAAVVNANMK KAQMQTDDRL VSTDGFMLNF LWVLQQLSTK IKLETVDPTY IFHPRCRITL
730 740 750 760 770 780
PNDETRVNAT MEDVNDWLTE LYGDQPPFSE PKFPTECFFL TLHAHHLSIL PSCRRYIRRL
790 800 810 820 830 840
RAIRELNRTV EDLKNNESQW KDSPLATRHR EMLKRCKTQL KKLVRCKACA DAGLLDESFL
850 860 870 880 890 900
RRCLNFYGLL IQLLLRILDP AYPDITLPLN SDVPKVFAAL PEFYVEDVAE FLFFIVQYSP
910 920 930 940 950 960
QALYEPCTQD IVMFLVVMLC NQNYIRNPYL VAKLVEVMFM TNPAVQPRTQ KFFEMIENHP
970 980 990 1000 1010 1020
LSTKLLVPSL MKFYTDVEHT GATSEFYDKF TIRYHISTIF KSLWQNIAHH GTFMEEFNSG
1030 1040 1050 1060 1070 1080
KQFVRYINML INDTTFLLDE SLESLKRIHE VQEEMKNKEQ WDQLPRDQQQ ARQSQLAQDE
1090 1100 1110 1120 1130 1140
RVSRSYLALA TETVDMFHIL TKQVQKPFLR PELGPRLAAM LNFNLQQLCG PKCRDLKVEN
1150 1160 1170 1180 1190 1200
PEKYGFEPKK LLDQLTDIYL QLDCARFAKA IADDQRSYSK ELFEEVISKM RKAGIKSTIA
1210 1220 1230 1240 1250 1260
IEKFKLLAEK VEEIVAKNAR AEIDYSDAPD EFRDPLMDTL MTDPVRLPSG TIMDRSIILR
1270 1280 1290 1300
HLLNSPTDPF NRQTLTESML EPVPELKEQI QAWMREKQNS DH