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

2 structures for Q96A65

Entry ID Method Resolution Chain Position Source
7PC5 X-ray 170 A B 965-974 PDB
AF-Q96A65-F1 Predicted AlphaFoldDB

758 variants for Q96A65

Variant ID(s) Position Change Description Diseaes Association Provenance
CA186070
RCV000162153
rs730882233
578 Q>R Meckel-Gruber syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs747454663
CA4491080
2 A>V No ClinGen
ExAC
gnomAD
CA4491082
rs771535728
3 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA4491081
rs771535728
3 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4491083
rs745993393
4 E>G No ClinGen
ExAC
gnomAD
rs145271795
CA4491084
5 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 5 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145271795
CA4491085
5 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4491087
rs540463431
6 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1367813440
CA369465174
7 G>D No ClinGen
TOPMed
rs773118344
CA4491088
8 G>V No ClinGen
ExAC
gnomAD
rs1320362788
CA369465179
8 G>W No ClinGen
gnomAD
rs766383620
CA4491090
10 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA4491089
rs760528562
10 Y>H No ClinGen
ExAC
TCGA novel 11 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 11 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562988841
CA369465199
11 R>T No ClinGen
Ensembl
CA4491091
rs753326786
12 S>G No ClinGen
ExAC
gnomAD
rs759071721
CA4491092
12 S>I No ClinGen
ExAC
gnomAD
CA369465206
rs759071721
12 S>T No ClinGen
ExAC
gnomAD
CA4491093
rs764801416
13 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs758899475
CA167399924
14 V>A No ClinGen
Ensembl
rs758125085
CA4491095
15 S>G No ClinGen
ExAC
gnomAD
CA4491096
rs147231122
15 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA4491097
rs560096370
19 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA369465259
rs1369589238
20 P>H No ClinGen
gnomAD
CA369465260
rs1369589238
20 P>L No ClinGen
gnomAD
CA369465261
rs1369589238
20 P>R No ClinGen
gnomAD
COSM3778122
CA369465265
COSM3778121
rs183280115
21 S>* Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
gnomAD
COSM3831913
CA167399925
COSM452375
rs183280115
21 S>L Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
gnomAD
rs1430141106 21 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1449389802
CA369465288
25 I>T No ClinGen
gnomAD
rs1270756431
CA369465286
25 I>V No ClinGen
TOPMed
TCGA novel 29 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369466332
rs1192538966
29 R>S No ClinGen
TOPMed
CA369466335
rs1562997773
30 T>A No ClinGen
Ensembl
CA4491125
rs749428746
32 S>F No ClinGen
ExAC
gnomAD
CA4491126
rs755136661
36 D>G No ClinGen
ExAC
gnomAD
CA167402222
COSM1448158
rs978166030
36 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs115798810
CA4491128
38 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369466398
TCGA novel
rs1246966392
39 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA369466411
rs1276911262
41 E>V No ClinGen
TOPMed
rs770723380
CA4491129
42 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA4491130
rs371782269
43 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 43 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491132
rs148842600
45 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491133
rs774958278
45 G>D No ClinGen
ExAC
gnomAD
rs148842600
CA4491131
45 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762544615
CA4491134
46 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4491135
rs763612418
46 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA369466442
rs763612418
46 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs376782759
CA4491136
49 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369466482
rs1435773420
52 E>G No ClinGen
gnomAD
CA167402223
rs939586317
54 C>Y No ClinGen
Ensembl
COSM1699381
rs200320447
CA4491138
56 R>C skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA4491139
rs750885840
56 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4491140
rs750885840
56 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs767045490
CA4491141
57 D>N No ClinGen
ExAC
gnomAD
CA167402224
rs1038063999
59 D>G No ClinGen
TOPMed
rs1265402991
CA369466550
62 I>T No ClinGen
TOPMed
rs753814143
CA369466581
66 Y>* No ClinGen
ExAC
TOPMed
gnomAD
COSM204210
CA369466609
rs1290075190
70 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1196389683
CA369466624
73 I>V No ClinGen
gnomAD
CA4491145
rs201300506
74 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4491146
COSM3431254
COSM204211
rs775034999
74 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1411920706
CA369466636
75 T>I No ClinGen
gnomAD
CA4491147
rs780930711
COSM1548156
77 Q>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA369466657
rs1183477326
78 S>N No ClinGen
gnomAD
rs1391634899
CA369466670
80 T>A No ClinGen
TOPMed
gnomAD
rs1391634899
CA369466669
80 T>P No ClinGen
TOPMed
gnomAD
CA369466685
rs1356331651
82 R>C No ClinGen
TOPMed
gnomAD
rs769669510
CA4491149
82 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs769669510
CA167402227
82 R>L No ClinGen
ExAC
TOPMed
rs780070557
CA4491150
83 I>V No ClinGen
ExAC
gnomAD
CA369466695
rs1348571281
84 T>A No ClinGen
gnomAD
rs1284568143
CA369466700
85 N>D No ClinGen
gnomAD
rs1355455263
CA369466703
85 N>S No ClinGen
gnomAD
TCGA novel 86 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1300875092
CA369466712
86 S>F No ClinGen
TOPMed
CA167402228
rs1045453395
87 R>* No ClinGen
TOPMed
rs199786320
COSM3431255
COSM1448159
CA4491152
87 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs762599364
CA167402230
89 K>Q No ClinGen
Ensembl
CA369466776
rs138076847
94 K>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA167403761
rs138076847
94 K>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA4491175
rs530657357
95 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs112101643
CA167403762
96 N>D No ClinGen
Ensembl
CA369466790
rs1295013700
96 N>S No ClinGen
gnomAD
CA369466801
rs1349383128
98 L>F No ClinGen
gnomAD
rs776925272
CA4491177
102 M>K No ClinGen
ExAC
gnomAD
rs1257051935
CA369466829
102 M>L No ClinGen
gnomAD
rs1257051935
CA369466828
102 M>V No ClinGen
gnomAD
CA369466843
rs1384567362
104 L>P No ClinGen
TOPMed
rs1250273700
CA369466870
108 R>Q No ClinGen
TOPMed
gnomAD
rs550387931
CA4491178
108 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369466890
rs1173326115
111 L>V No ClinGen
TOPMed
rs1188129086
CA369466897
112 R>Q No ClinGen
gnomAD
TCGA novel 117 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1199685990
CA369466940
118 G>E No ClinGen
gnomAD
rs570665431
CA4491182
123 H>D No ClinGen
1000Genomes
ExAC
gnomAD
CA4491183
rs529493969
126 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1433307410
CA369466997
126 N>S No ClinGen
TOPMed
CA369467009
rs1389076465
128 L>S No ClinGen
gnomAD
CA4491184
rs757535030
131 I>T No ClinGen
ExAC
gnomAD
CA369467048
rs1260406362
133 N>K No ClinGen
TOPMed
CA4491185
rs779896876
133 N>T No ClinGen
ExAC
gnomAD
rs753618140
CA4491186
134 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778741092
CA4491188
135 K>N No ClinGen
ExAC
gnomAD
rs142569886
CA167403765
136 Q>R No ClinGen
ESP
TOPMed
gnomAD
rs1209817889
CA369467081
138 P>R No ClinGen
TOPMed
CA167403766
rs531461738
140 K>R No ClinGen
gnomAD
CA369467113
rs1308759252
143 Q>R No ClinGen
gnomAD
rs747623725
CA4491189
145 M>L No ClinGen
ExAC
gnomAD
CA167403767
rs919867909
146 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA369467138
rs1266404187
146 A>V No ClinGen
gnomAD
CA369467164
rs1489588861
150 Y>H No ClinGen
gnomAD
CA4491190
rs200463309
151 L>V No ClinGen
ExAC
TOPMed
gnomAD
COSM3394534
rs1370181143
COSM2770979
CA369467179
152 S>N pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs777512800
CA4491191
153 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1431563477
CA369467193
154 T>S No ClinGen
gnomAD
CA4491193
CA167403768
rs370550009
156 M>I No ClinGen
ESP
ExAC
TOPMed
CA4491194
rs777028806
157 L>F No ClinGen
ExAC
gnomAD
rs1429915048
CA369464543
159 S>A No ClinGen
TOPMed
rs746175040
CA4491217
159 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs146409877
CA4491219
161 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491218
rs146409877
161 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769191878
CA4491221
165 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs774394381
CA4491222
165 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA369464585
rs1563010873
166 G>D No ClinGen
Ensembl
CA4491223
rs761822033
166 G>R No ClinGen
ExAC
gnomAD
CA369464591
rs767742634
167 P>H No ClinGen
ExAC
gnomAD
CA4491224
rs767742634
167 P>L No ClinGen
ExAC
gnomAD
CA369464590
rs1259568154
167 P>S No ClinGen
TOPMed
rs1211424401
CA369464602
169 L>P No ClinGen
TOPMed
rs1050179425
CA369464653
176 D>E No ClinGen
TOPMed
gnomAD
CA4491226
rs759321937
177 L>P No ClinGen
ExAC
gnomAD
COSM109686
CA167405436
rs140852002
178 R>* skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs140852002
CA4491227
178 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491228
rs145158959
178 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1181078687
CA369464668
180 E>Q No ClinGen
gnomAD
CA4491229
rs758384160
181 L>F No ClinGen
ExAC
gnomAD
rs1168904055
CA369464682
182 H>Y No ClinGen
gnomAD
TCGA novel 186 M>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs879601450
CA167405437
CA369464719
186 M>I No ClinGen
TOPMed
CA369464716
rs1427310862
186 M>T No ClinGen
TOPMed
gnomAD
CA167405438
rs756723989
189 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369464747
rs780839998
190 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA369464749
rs1449139186
191 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1302640619
CA369464764
193 I>T No ClinGen
gnomAD
rs780366423
CA4491236
198 R>Q No ClinGen
ExAC
gnomAD
CA4491235
rs755862799
198 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA167405440
rs961201906
199 H>Y No ClinGen
TOPMed
rs1312703679
CA369464807
200 L>V No ClinGen
TOPMed
gnomAD
rs1322693463
CA369464830
203 K>R No ClinGen
TOPMed
gnomAD
CA4491238
rs769104059
204 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1466128962
CA369464843
205 T>S No ClinGen
gnomAD
rs748194544
CA4491240
207 R>* No ClinGen
ExAC
gnomAD
COSM1085715
rs772062658
CA4491241
207 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1192442999
CA369464861
208 V>A No ClinGen
gnomAD
CA4491242
rs773403062
209 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1427790546
CA369464863
209 V>L No ClinGen
gnomAD
CA4491244
rs771323780
211 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4491246
rs140653799
211 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA167405442
rs140653799
211 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771323780
CA4491245
211 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs764055707
CA4491247
212 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA4491248
rs751464157
213 K>N No ClinGen
ExAC
gnomAD
CA4491249
rs761868306
214 E>Q No ClinGen
ExAC
gnomAD
CA4491251
rs749991089
215 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 215 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_036292 220 S>F a colorectal cancer sample; somatic mutation [UniProt] No UniProt
CA369465423
COSM1448160
rs1229655082
220 S>P large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs538087610
CA4491271
221 L>V No ClinGen
ExAC
gnomAD
rs753150357
CA4491274
222 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA369465540
rs1267302005
224 D>E No ClinGen
TOPMed
gnomAD
CA369465532
rs1584805304
224 D>G No ClinGen
Ensembl
TCGA novel 224 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491275
rs758778712
228 P>A No ClinGen
ExAC
gnomAD
TCGA novel 230 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369465679
rs1363557706
232 V>A No ClinGen
gnomAD
rs975024434
CA167406539
232 V>I No ClinGen
Ensembl
rs1468965534
CA369465687
233 T>I No ClinGen
gnomAD
rs974892070
CA369465691
234 N>D No ClinGen
TOPMed
rs1165183818
CA369465695
234 N>S No ClinGen
gnomAD
CA167406540
rs974892070
234 N>Y No ClinGen
TOPMed
rs757424698
CA4491278
236 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs747016421
CA4491277
236 P>S No ClinGen
ExAC
gnomAD
rs781478736
CA4491279
239 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4491280
rs544415669
239 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369465768
rs1307396174
241 F>L No ClinGen
gnomAD
rs770179415
CA4491281
242 L>I No ClinGen
ExAC
gnomAD
rs372024692
CA4491283
243 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA369465797
rs1584805403
244 T>P No ClinGen
Ensembl
CA4491284
rs771866368
245 S>F No ClinGen
ExAC
gnomAD
CA4491285
rs771866368
245 S>Y No ClinGen
ExAC
gnomAD
rs1243398512
CA369465828
246 H>R No ClinGen
gnomAD
rs760122404
CA4491286
247 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA4491287
rs765864133
248 S>F No ClinGen
ExAC
gnomAD
rs1431700270
CA369465845
248 S>P No ClinGen
TOPMed
CA4491288
rs776194165
249 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA4491289
rs138281330
250 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4491290
rs138281330
250 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA167406542
rs942133809
251 G>E No ClinGen
Ensembl
rs375355028
CA4491292
253 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491293
rs764447536
254 S>R No ClinGen
ExAC
gnomAD
TCGA novel 256 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775220009
CA369467233
256 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs775220009
CA4491308
256 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA369467246
rs1472150577
258 I>V No ClinGen
TOPMed
rs762569848
CA4491309
259 N>I No ClinGen
ExAC
gnomAD
rs1270890013
CA369467273
262 D>H No ClinGen
gnomAD
CA369467281
rs1371474931
263 I>V No ClinGen
gnomAD
CA369467296
rs1467507501
265 E>K No ClinGen
TOPMed
gnomAD
CA167411039
rs953735832
266 D>E No ClinGen
Ensembl
rs149578002
CA167411038
266 D>N No ClinGen
ESP
TCGA novel 268 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752011481
CA4491311
270 D>V No ClinGen
ExAC
gnomAD
rs1405040713
CA369467333
270 D>Y No ClinGen
gnomAD
rs1322083570
CA369467341
271 P>Q No ClinGen
TOPMed
gnomAD
CA369467362
rs1381101309
274 N>D No ClinGen
gnomAD
rs1292823382
CA369467369
275 S>G No ClinGen
gnomAD
rs768161600
CA4491313
275 S>N No ClinGen
ExAC
gnomAD
rs1439357436
CA369467379
276 T>S No ClinGen
TOPMed
rs750491430
CA4491314
280 G>S No ClinGen
ExAC
gnomAD
CA4491315
rs143291638
281 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1323228952
CA369467428
284 K>E No ClinGen
TOPMed
gnomAD
CA4491316
rs139031553
285 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754080176
CA4491317
285 G>D No ClinGen
ExAC
gnomAD
CA4491320
rs545267730
287 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA167411040
rs944286544
289 L>R No ClinGen
Ensembl
rs931505556
CA167411041
295 T>A No ClinGen
TOPMed
gnomAD
CA4491324
rs769331521
297 K>N No ClinGen
ExAC
gnomAD
rs762634261
CA4491326
299 I>T No ClinGen
ExAC
gnomAD
CA4491325
rs147214615
299 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491327
rs140636237
300 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491328
rs774808256
302 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs762300660
COSM1187440
CA4491329
302 R>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs762300660
CA369467545
302 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA369467552
rs1365946196
303 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA369467584
rs1222295239
307 L>F No ClinGen
gnomAD
rs868537272
CA167411042
309 Q>P No ClinGen
Ensembl
CA369467626
rs750982913
313 R>S No ClinGen
ExAC
gnomAD
CA167411043
rs141369405
315 T>A No ClinGen
ESP
rs1563033068
CA369467638
315 T>I No ClinGen
Ensembl
TCGA novel 315 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374961055
CA167411044
316 T>I No ClinGen
ESP
gnomAD
CA4491334
rs766479473
316 T>S No ClinGen
ExAC
gnomAD
rs374961055
CA369467642
316 T>S No ClinGen
ESP
gnomAD
CA369467649
rs1268014055
317 Q>H No ClinGen
gnomAD
rs1471014261
CA369467646
317 Q>P No ClinGen
TOPMed
rs200156091
CA4491337
319 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA369467657
rs753908169
319 A>S No ClinGen
ExAC
gnomAD
CA4491335
rs753908169
319 A>T No ClinGen
ExAC
gnomAD
CA4491336
rs200156091
319 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA369467669
rs1233209502
321 S>R No ClinGen
TOPMed
CA4491338
rs751285429
321 S>T No ClinGen
ExAC
gnomAD
CA369467698
rs201609585
325 R>G No ClinGen
1000Genomes
ExAC
TOPMed
rs369312406
CA4491340
325 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369312406
CA4491342
325 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369312406
CA4491341
325 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4491339
rs201609585
325 R>W No ClinGen
1000Genomes
ExAC
TOPMed
CA369467701
rs1584847526
326 G>A No ClinGen
Ensembl
rs768384421
CA4491346
326 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs768384421
CA4491345
326 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs1563033105 327 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA167411045
rs77094376
327 E>G No ClinGen
Ensembl
CA4491348
rs772554686
329 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA369467729
rs1403613432
331 V>M No ClinGen
gnomAD
rs370517844
CA4491349
332 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs761216417
CA4491350
333 N>K No ClinGen
ExAC
gnomAD
rs1391197446
CA369467752
334 Q>P No ClinGen
TOPMed
gnomAD
CA4491351
rs766848115
335 P>S No ClinGen
ExAC
gnomAD
CA369465414
rs1273561595
336 R>S No ClinGen
gnomAD
CA369465619
rs1465990320
346 F>I No ClinGen
TOPMed
CA369465623
rs1257517214
346 F>S No ClinGen
gnomAD
TCGA novel 347 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1052262669
CA167413093
349 F>C No ClinGen
gnomAD
rs1208860447
CA369465706
351 A>V No ClinGen
TOPMed
CA4491369
rs149904766
352 V>I No ClinGen
ESP
ExAC
gnomAD
CA4491368
rs149904766
352 V>L No ClinGen
ESP
ExAC
gnomAD
CA369465742
rs146469408
354 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491370
rs146469408
354 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369465750
rs1341111881
354 A>V No ClinGen
TOPMed
rs777013493
CA4491372
356 H>R No ClinGen
ExAC
gnomAD
rs577020229
CA4491371
356 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs765294870
CA4491374
357 S>C No ClinGen
ExAC
gnomAD
rs546077707
CA167413095
360 L>M No ClinGen
1000Genomes
gnomAD
TCGA novel 362 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1437627414
CA369465862
364 Q>R No ClinGen
TOPMed
gnomAD
CA369465873
rs1361418951
365 D>G No ClinGen
gnomAD
TCGA novel 365 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491377
rs764321303
365 D>N No ClinGen
ExAC
gnomAD
rs750166788
CA4491378
366 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs750166788
CA369465882
366 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA369465886
rs1563041213
366 T>S No ClinGen
Ensembl
rs1202809620
CA369465892
TCGA novel
367 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
rs1445976599
CA369465917
370 P>A No ClinGen
TOPMed
rs1010602343
CA167413096
370 P>L No ClinGen
Ensembl
CA4491380
rs766289665
371 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs143199058
CA4491382
374 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778560013
CA4491383
375 E>K No ClinGen
ExAC
gnomAD
CA369465989
rs1170941256
377 I>M No ClinGen
TOPMed
rs747715190
CA4491384
377 I>T No ClinGen
ExAC
gnomAD
rs920754917
CA167413097
377 I>V No ClinGen
TOPMed
CA369465994
rs1390451703
378 K>R No ClinGen
TOPMed
rs1047959899
CA167413098
380 Y>C No ClinGen
TOPMed
CA369466011
rs1176169557
381 D>H No ClinGen
gnomAD
rs1482943898
CA369466029
383 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs747354706
CA4491387
384 D>G No ClinGen
ExAC
gnomAD
rs1458996375
CA369466035
384 D>Y No ClinGen
gnomAD
rs1344644570
CA369466040
385 V>I No ClinGen
TOPMed
gnomAD
CA4491388
rs527959228
388 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369466071
rs1222897112
389 I>N No ClinGen
gnomAD
CA4491389
rs369040208
389 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1281129851
CA369466078
390 Q>R No ClinGen
gnomAD
CA369467781
rs1267407517
395 M>L No ClinGen
TOPMed
gnomAD
rs752184265
CA4491406
397 L>I No ClinGen
ExAC
gnomAD
CA4491407
rs758007989
398 T>I No ClinGen
ExAC
gnomAD
TCGA novel 399 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777395455
CA4491408
403 M>I No ClinGen
ExAC
gnomAD
rs1412028547
CA369467840
403 M>T No ClinGen
TOPMed
CA4491410
rs757004114
405 N>S No ClinGen
ExAC
gnomAD
rs751143671
CA4491409
405 N>Y No ClinGen
ExAC
gnomAD
CA369467862
rs1424137158
406 T>I No ClinGen
gnomAD
CA4491411
rs781398971
407 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4491412
rs200535304
407 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1563079684
CA369467872
408 T>M No ClinGen
Ensembl
rs1333813020
CA369467876
409 A>D No ClinGen
TOPMed
gnomAD
rs768596052
CA4491416
418 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs768596052
CA4491417
418 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA369467941
rs1342076453
419 A>D No ClinGen
gnomAD
CA4491420
rs772392618
421 T>A No ClinGen
ExAC
gnomAD
COSM3698180
CA167424007
COSM3698181
rs989563113
423 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs776508325
CA4491421
423 R>Q No ClinGen
ExAC
gnomAD
rs763511126
CA369467989
427 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs763511126
CA4491427
427 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA4491424
rs752662890
427 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs752662890
CA4491425
427 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs763511126
CA4491426
427 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1394012263
CA369467991
428 F>L No ClinGen
gnomAD
CA4491429
rs756804611
429 F>L No ClinGen
ExAC
gnomAD
TCGA novel 430 A>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 433 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 433 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491430
rs780903574
434 P>T No ClinGen
ExAC
gnomAD
CA4491431
rs541978257
436 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA369468059
rs1378416459
COSM1548154
437 P>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA369468061
rs1299159007
438 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4491434
rs780446105
439 N>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 439 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491435
rs143823778
439 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491433
rs780446105
439 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1270162361
CA369468077
440 S>C No ClinGen
gnomAD
rs746122885
CA167424008
441 L>H No ClinGen
Ensembl
rs1225749696
CA369468088
442 F>C No ClinGen
gnomAD
rs373714478
CA167424009
442 F>L No ClinGen
ESP
TOPMed
CA4491453
rs755379810
443 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA4491436
rs778843137
443 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1032578634
CA369468118
445 E>* No ClinGen
TOPMed
COSM3431257
COSM1673551
rs1032578634
CA167424513
445 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
COSM1548153
CA4491454
rs545066605
446 S>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1021541827
CA167424514
447 S>F No ClinGen
TOPMed
CA4491456
COSM136632
rs531366432
448 S>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4491457
rs199516005
449 H>L No ClinGen
1000Genomes
ExAC
gnomAD
CA369468142
rs199516005
449 H>P No ClinGen
1000Genomes
ExAC
gnomAD
CA369468152
rs1332345362
451 I>L No ClinGen
TOPMed
CA4491459
rs771340209
455 A>T No ClinGen
ExAC
gnomAD
rs775370795
CA4491460
458 R>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 459 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369468245
rs1407276527
464 L>F No ClinGen
gnomAD
CA4491462
rs749115364
465 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1204619737
CA369468250
465 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1085717
rs761705485
CA4491465
467 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774368637
CA4491464
467 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4491466
rs766983321
469 G>R No ClinGen
ExAC
gnomAD
CA4491542
rs781025763
473 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA4491544
rs745335511
474 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA4491543
rs745335511
474 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA369468359
rs1196344563
477 D>N No ClinGen
TOPMed
rs751273688
CA4491545
478 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1316865963
CA369468382
480 I>V No ClinGen
TOPMed
gnomAD
rs1360897074
CA369468392
481 E>G No ClinGen
gnomAD
rs774798213
CA4491548
487 F>V No ClinGen
ExAC
gnomAD
CA4491549
rs748463481
488 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs748463481
CA4491550
488 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA369468447
rs1307881359
490 K>Q No ClinGen
TOPMed
CA167441122
rs141069340
490 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491551
rs141069340
490 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1420811144
CA369468467
493 A>S No ClinGen
gnomAD
rs761291706
CA4491552
494 R>I No ClinGen
ExAC
gnomAD
CA369468486
rs1338841816
496 I>V No ClinGen
TOPMed
gnomAD
rs375703536
CA4491553
497 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369468500
rs1231395466
498 V>A No ClinGen
gnomAD
CA4491555
rs759701016
498 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs556266260
CA167441124
505 R>G No ClinGen
1000Genomes
gnomAD
rs1329760303
CA369469980
510 I>T No ClinGen
TOPMed
gnomAD
CA369469997
rs1446936793
511 E>* No ClinGen
gnomAD
rs1440100319
CA369470027
512 H>D No ClinGen
TOPMed
CA167461801
rs757501836
513 A>V No ClinGen
TOPMed
gnomAD
CA369470108
rs1368205552
517 G>D No ClinGen
gnomAD
CA4491569
rs778238555
518 P>L No ClinGen
ExAC
gnomAD
rs747463580
CA4491570
522 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs771444968
CA4491571
523 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs771444968
CA167461803
523 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA369470212
rs1446395002
525 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1446395002
CA369470205
525 R>G No ClinGen
TOPMed
gnomAD
CA4491573
rs776629991
525 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4491572
rs776629991
525 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA167461804
rs146531749
527 F>L No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 527 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369470242
rs1563011300
528 L>F No ClinGen
Ensembl
TCGA novel 528 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491574
rs767674208
530 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA167461806
rs948851717
531 Y>C No ClinGen
gnomAD
rs775554325
CA4491575
531 Y>H No ClinGen
ExAC
gnomAD
rs202018736
CA4491576
532 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1244398370
CA369470347
536 F>S No ClinGen
gnomAD
rs1237520022
CA369470359
538 N>H No ClinGen
TOPMed
CA369470364
rs1461392422
538 N>S No ClinGen
gnomAD
CA369470413
rs1182889339
542 A>T No ClinGen
gnomAD
rs750291765
CA4491578
544 I>V No ClinGen
ExAC
gnomAD
CA167461808
rs980298869
545 N>D No ClinGen
Ensembl
CA4491579
rs760471069
546 K>R No ClinGen
ExAC
gnomAD
rs1168840799
CA369470513
549 E>G No ClinGen
gnomAD
RCV000893737
CA4491581
rs149782824
550 G>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA167461809
rs1008390359
553 K>R No ClinGen
TOPMed
CA4491582
rs754557338
554 T>I No ClinGen
ExAC
gnomAD
CA369470610
rs1383914636
555 S>C No ClinGen
gnomAD
CA4491584
rs752256479
555 S>P No ClinGen
ExAC
gnomAD
rs1216355184
CA369470648
557 P>L No ClinGen
gnomAD
CA4491587
rs747407987
560 I>L No ClinGen
ExAC
gnomAD
rs575482547
CA4491588
560 I>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1329108673
CA369470715
561 L>P No ClinGen
TOPMed
CA369470720
rs1253797333
562 A>T No ClinGen
gnomAD
rs1052756068
CA369470749
563 N>K No ClinGen
TOPMed
gnomAD
CA4491590
rs746426929
564 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA369470772
rs1184773306
565 D>H No ClinGen
TOPMed
gnomAD
CA4491593
rs763075145
567 M>V No ClinGen
ExAC
gnomAD
rs768937158
CA4491594
CA369470809
569 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs768937158
CA369470808
569 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA369470816
rs1201734831
570 L>P No ClinGen
TOPMed
rs1413091962
CA369470829
572 V>A No ClinGen
TOPMed
gnomAD
rs766370518
CA4491597
573 Q>* No ClinGen
ExAC
gnomAD
rs201785279
CA167461811
COSM3942035
574 R>W oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs1298752323
CA369470846
575 P>L No ClinGen
gnomAD
CA4491599
rs759583150
576 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1285028486
CA369470859
578 Q>* No ClinGen
gnomAD
rs762548692
CA4491619
579 S>C No ClinGen
ExAC
TOPMed
gnomAD
COSM74560
rs763566158
CA4491620
579 S>N ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs371277479
CA4491622
580 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491624
rs767854929
581 I>L No ClinGen
ExAC
gnomAD
CA4491623
rs767854929
581 I>V No ClinGen
ExAC
gnomAD
CA4491626
rs780641719
582 I>T No ClinGen
ExAC
gnomAD
rs750294784
CA4491625
582 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4491627
rs749276747
583 V>A No ClinGen
ExAC
gnomAD
rs749276747
CA369468582
583 V>E No ClinGen
ExAC
gnomAD
TCGA novel 584 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369468594
rs1414189714
585 K>E No ClinGen
gnomAD
rs755063719
CA4491628
585 K>R No ClinGen
ExAC
gnomAD
rs376345518
CA4491630
587 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491631
rs772477021
588 Q>E No ClinGen
ExAC
gnomAD
CA369468613
rs142976261
588 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491632
rs142976261
588 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369468623
rs1585230194
589 D>E No ClinGen
Ensembl
rs769571711
CA369468625
590 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs769571711
CA4491635
590 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA369468657
rs775480288
595 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA4491637
rs551191630
595 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4491636
rs775480288
595 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA167470276
rs569679408
597 L>F No ClinGen
1000Genomes
COSM32876
CA4491638
VAR_036293
rs768209201
599 A>T large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs773908666
CA4491639
603 Q>E No ClinGen
ExAC
gnomAD
CA4491640
rs761399155
603 Q>R No ClinGen
ExAC
gnomAD
rs1167187145
CA369468721
604 F>S No ClinGen
TOPMed
CA167470278
rs970149083
605 L>R No ClinGen
TOPMed
CA4491642
rs149312476
605 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1472466211
CA369468742
607 M>T No ClinGen
TOPMed
gnomAD
CA369468738
rs1237992093
607 M>V No ClinGen
gnomAD
CA167470279
rs367665594
608 V>M No ClinGen
ESP
TOPMed
gnomAD
rs761122078
CA4491643
609 C>F No ClinGen
ExAC
gnomAD
CA4491644
rs761122078
609 C>Y No ClinGen
ExAC
gnomAD
rs981947418
CA167470280
610 V>A No ClinGen
Ensembl
rs201852656
CA4491646
610 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4491649
rs140299875
612 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4491648
rs140299875
612 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs935262676
CA167470282
CA369468786
614 E>D No ClinGen
TOPMed
gnomAD
CA369468784
rs1447997230
614 E>G No ClinGen
gnomAD
TCGA novel 614 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA167470281
rs959853913
614 E>Q No ClinGen
TOPMed
CA4491651
rs747286445
615 Y>* No ClinGen
ExAC
gnomAD
CA369468798
rs1219436643
616 K>R No ClinGen
gnomAD
rs1257671011
CA369468805
617 D>G No ClinGen
TOPMed
gnomAD
rs1257671011
CA369468806
617 D>V No ClinGen
TOPMed
gnomAD
CA369468811
rs1381104796
618 T>A No ClinGen
TOPMed
CA369468815
rs1252120860
618 T>I No ClinGen
gnomAD
rs769605200
CA4491652
619 C>F No ClinGen
ExAC
gnomAD
rs779783183
CA4491653
620 T>I No ClinGen
ExAC
gnomAD
CA4491655
rs145963456
621 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141753800
CA4491654
621 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145963456
CA4491656
621 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369468840
rs1306317551
623 Y>S No ClinGen
TOPMed
rs1432162226
CA369468846
624 R>G No ClinGen
TOPMed
rs1372550504
CA369468873
625 G>D No ClinGen
TOPMed
rs758777671
CA4491684
626 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751604065
CA4491687
628 Q>H No ClinGen
ExAC
gnomAD
CA369468891
rs764260310
628 Q>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1205813
CA4491686
rs764260310
628 Q>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1410771814
CA369468910
631 E>K No ClinGen
TOPMed
CA369468921
rs1449571671
632 K>I No ClinGen
gnomAD
CA369468935
rs1194432362
634 V>G No ClinGen
gnomAD
TCGA novel 634 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369468942
rs1158595483
635 I>M No ClinGen
TOPMed
gnomAD
CA4491690
rs753621495
636 S>G No ClinGen
ExAC
gnomAD
rs754744267
CA4491691
636 S>T No ClinGen
ExAC
gnomAD
rs778718228
CA4491692
637 A>E No ClinGen
ExAC
gnomAD
CA369468953
rs778718228
637 A>V No ClinGen
ExAC
gnomAD
CA167472831
rs929005895
640 A>P No ClinGen
TOPMed
gnomAD
TCGA novel 640 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA167472832
rs376931909
644 D>G No ClinGen
ESP
TOPMed
CA167472833
rs757318737
646 S>N No ClinGen
Ensembl
rs1323229313
CA369469071
654 N>K No ClinGen
gnomAD
CA369469088
rs1348657231
656 M>I No ClinGen
TOPMed
rs745576312
CA4491700
656 M>L No ClinGen
ExAC
rs1189342960
CA369469098
658 M>V No ClinGen
gnomAD
CA4491701
rs770281475
COSM1251589
659 A>V oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs776059821
CA4491702
660 Q>K No ClinGen
ExAC
gnomAD
CA369469121
rs1585247264
661 P>H No ClinGen
Ensembl
CA369469134
rs1200195155
663 Q>K No ClinGen
gnomAD
CA369469137
rs1326029523
663 Q>L No ClinGen
TOPMed
CA167472836
rs1030055549
667 K>E No ClinGen
TOPMed
CA369469169
rs1178489626
668 R>I No ClinGen
gnomAD
rs764703832
CA4491704
671 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA369469199
rs1426148834
672 E>G No ClinGen
gnomAD
rs774450424
CA4491705
673 D>V No ClinGen
ExAC
gnomAD
CA4491706
rs761823774
674 F>C No ClinGen
ExAC
gnomAD
CA369469214
rs761823774
674 F>S No ClinGen
ExAC
gnomAD
rs1460029506
CA369469218
675 I>V No ClinGen
gnomAD
rs1173135747
CA369469225
676 R>G No ClinGen
TOPMed
gnomAD
CA369469564
rs1401627126
677 A>T No ClinGen
gnomAD
CA4491722
rs774701379
682 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1471634406
CA369469601
682 E>K No ClinGen
TOPMed
rs1021109820
CA167475052
684 E>G No ClinGen
Ensembl
rs1175366204
CA369469614
684 E>Q No ClinGen
Ensembl
CA167475053
rs966999471
687 I>T No ClinGen
Ensembl
CA4491723
rs762421551
692 D>N No ClinGen
ExAC
gnomAD
CA369469687
rs1183738705
695 I>V No ClinGen
TOPMed
rs1212497934
CA369469694
696 P>A No ClinGen
gnomAD
rs1302704112
CA369469696
696 P>H No ClinGen
gnomAD
rs772040078
CA4491724
698 Q>E No ClinGen
ExAC
gnomAD
rs201134202
CA167475054
698 Q>P No ClinGen
1000Genomes
rs146653246
CA4491727
702 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4491728
rs924973063
702 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1219242884
CA369469744
704 V>I No ClinGen
TOPMed
gnomAD
rs1219242884
CA369469745
704 V>L No ClinGen
TOPMed
gnomAD
CA4491730
rs752445545
706 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs763996192
CA4491732
709 A>D No ClinGen
ExAC
gnomAD
CA4491734
rs757280506
710 L>F No ClinGen
ExAC
gnomAD
rs1393175322
CA369469795
711 A>V No ClinGen
gnomAD
rs377450937
CA4491738
713 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs139040668
CA4491737
713 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491736
rs139040668
713 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491735
rs780514601
713 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1563064120
CA369469811
714 H>N No ClinGen
Ensembl
CA369469812
rs1444942616
714 H>P No ClinGen
TOPMed
CA369469813
rs1444942616
714 H>R No ClinGen
TOPMed
rs10269237
CA4491740
717 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144680892
CA4491741
718 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA4491742
rs748588131
719 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA369469845
rs1218117410
719 W>R No ClinGen
gnomAD
CA4491743
rs772647161
722 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA369469876
rs1438542554
723 R>* No ClinGen
TOPMed
rs367976819
CA4491745
723 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369469889
rs1219504996
724 T>I No ClinGen
Ensembl
CA167475057
rs754057400
725 K>E No ClinGen
gnomAD
rs371673120
CA4491746
727 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 727 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369469927
rs1248681823
728 F>S No ClinGen
gnomAD
CA369469939
rs1480944840
729 S>C No ClinGen
TOPMed
rs1488960449
CA369469942
730 N>H No ClinGen
gnomAD
CA4491747
rs540616255
730 N>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 731 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 734 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763786225
CA4491749
735 Q>H No ClinGen
ExAC
gnomAD
rs1159214491
CA369470028
736 M>V No ClinGen
gnomAD
CA369469255
rs1440696312
738 S>P No ClinGen
gnomAD
TCGA novel 738 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491773
rs767472487
742 D>G No ClinGen
ExAC
gnomAD
CA369469281
rs1286274495
742 D>H No ClinGen
gnomAD
CA4491774
rs532407295
743 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs370174933
CA369469304
745 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370174933
CA4491775
745 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4491777
rs371580481
747 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491779
rs764973453
748 D>A No ClinGen
ExAC
gnomAD
CA4491780
rs752955265
749 L>H No ClinGen
ExAC
CA4491782
rs778149618
750 P>T No ClinGen
ExAC
gnomAD
rs1480273714
CA369469339
751 P>L No ClinGen
Ensembl
rs1563085372 751 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480273714
CA369469337
751 P>Q No ClinGen
Ensembl
CA4491783
rs369110502
751 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369110502
CA167481617
751 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1260910778
CA369469340
752 V>M No ClinGen
TOPMed
rs768954387
CA4491786
754 E>A No ClinGen
ExAC
gnomAD
CA167481618
rs983563008
754 E>K No ClinGen
TOPMed
rs745992432
CA4491787
756 I>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1484908444
CA369469368
756 I>N No ClinGen
gnomAD
rs373770857
CA4491788
763 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491789
rs775762504
764 A>T No ClinGen
ExAC
gnomAD
CA4491790
rs764781492
765 K>I No ClinGen
ExAC
TOPMed
gnomAD
CA4491792
rs764781492
765 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA4491791
rs764781492
765 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs760628284
CA4491793
766 S>L No ClinGen
ExAC
gnomAD
rs775959309
CA4491795
767 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs752361434
CA4491798
773 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369469484
rs752361434
773 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4491799
rs772101936
773 R>H No ClinGen
ExAC
gnomAD
CA369469486
rs772101936
773 R>L No ClinGen
ExAC
gnomAD
CA4491800
rs764386579
774 C>R No ClinGen
ExAC
gnomAD
TCGA novel 775 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369469523
rs1257082931
779 H>L No ClinGen
TOPMed
gnomAD
CA369469522
rs1257082931
779 H>R No ClinGen
TOPMed
gnomAD
rs751927709
CA4491801
779 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1020453602
CA167481619
782 V>A No ClinGen
Ensembl
rs963362890
CA167482413
784 V>I No ClinGen
Ensembl
rs751872708
CA4491819
785 H>Y No ClinGen
ExAC
gnomAD
rs767815009
CA4491821
787 F>C No ClinGen
ExAC
gnomAD
CA369470054
rs1176157278
787 F>L No ClinGen
TOPMed
CA167482414
rs988062125
CA369470062
787 F>L No ClinGen
TOPMed
rs1383067240
CA369470070
788 H>R No ClinGen
gnomAD
rs1326632134
CA369470090
789 Y>* No ClinGen
gnomAD
CA4491822
rs750938818
789 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1370366507
CA369470100
790 L>R No ClinGen
gnomAD
rs756639970
CA4491823
792 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753864971
CA4491825
794 A>E No ClinGen
ExAC
gnomAD
rs753864971
CA167482415
794 A>G No ClinGen
ExAC
gnomAD
rs780122543
CA4491824
794 A>T No ClinGen
ExAC
gnomAD
CA369470145
rs753864971
794 A>V No ClinGen
ExAC
gnomAD
CA369470167
rs1466505954
796 E>Q No ClinGen
TOPMed
CA369470204
rs1249097810
799 Y>* No ClinGen
TOPMed
rs927270336
CA167482416
799 Y>C No ClinGen
Ensembl
rs755208350
CA4491826
799 Y>D No ClinGen
ExAC
gnomAD
CA4491827
rs755208350
799 Y>H No ClinGen
ExAC
gnomAD
CA369470207
rs1358001127
800 A>T No ClinGen
gnomAD
rs1210087858
CA369470213
800 A>V No ClinGen
gnomAD
CA4491829
rs770817215
801 I>T No ClinGen
ExAC
gnomAD
rs1563088189
CA369470250
803 A>P No ClinGen
Ensembl
CA4491830
rs370327688
805 V>L No ClinGen
ESP
TOPMed
rs1341610745
CA369470285
806 E>Q No ClinGen
TOPMed
rs1420273531
CA369470301
807 S>T No ClinGen
gnomAD
CA4491833
rs373987535
808 M>L No ClinGen
ESP
ExAC
gnomAD
rs769624916
CA4491834
809 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA369470394
rs1165961810
CA369470392
811 D>E No ClinGen
TOPMed
gnomAD
CA369470458
rs1333529616
817 L>F No ClinGen
gnomAD
CA369470459
rs1281107634
817 L>H No ClinGen
Ensembl
rs1390798749
CA369470482
818 N>K No ClinGen
gnomAD
CA369470476
rs768204269
818 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs768204269
CA4491837
818 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs773965833
CA4491838
820 D>G No ClinGen
ExAC
gnomAD
rs1304537492
CA369470503
820 D>N No ClinGen
gnomAD
CA369470521
rs1292307861
821 I>V No ClinGen
gnomAD
COSM1085723
CA4491840
rs767913030
822 S>G Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4491842
rs147650429
823 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA167482418
rs1051352042
823 A>V No ClinGen
TOPMed
CA4491844
rs753916487
828 M>T No ClinGen
ExAC
gnomAD
rs766823344
CA4491843
828 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA369470603
rs1248808875
829 S>G No ClinGen
gnomAD
rs1425926156
CA369470607
829 S>N No ClinGen
gnomAD
CA369470618
rs148073739
830 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4491846
rs148073739
830 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772078435
CA167482419
831 S>T No ClinGen
Ensembl
TCGA novel 837 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758604905
CA4491848
837 F>L No ClinGen
ExAC
gnomAD
CA369470734
rs1296390618
840 I>V No ClinGen
gnomAD
CA369470758
rs1415153994
842 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4491870
rs764247002
843 G>V No ClinGen
ExAC
gnomAD
CA167482718
rs917262024
848 I>T No ClinGen
TOPMed
rs755835378
CA4491872
849 S>F No ClinGen
ExAC
gnomAD
rs369751839
CA167482719
850 C>F No ClinGen
ESP
CA369470927
rs1585317466
851 I>M No ClinGen
Ensembl
rs961922706
CA167482720
852 L>H No ClinGen
TOPMed
gnomAD
rs754925166
CA4491875
853 I>V No ClinGen
ExAC
gnomAD
rs778325501
CA4491876
854 N>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 855 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369470961
rs1392959563
857 Q>R No ClinGen
gnomAD
rs747685608
CA4491877
859 F>L No ClinGen
ExAC
gnomAD
CA369470983
rs1344211033
860 R>K No ClinGen
gnomAD
CA4491879
rs373447019
861 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4491880
rs746714622
865 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA369471029
rs1285745918
867 I>V No ClinGen
TOPMed
CA369471036
rs1216830112
868 K>E No ClinGen
TOPMed
rs1218016949
CA369471040
868 K>R No ClinGen
Ensembl
CA369471066
rs1442196783
871 C>* No ClinGen
gnomAD
TCGA novel 871 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346727019
CA369471098
876 V>I No ClinGen
TOPMed
CA369471114
rs1303333431
878 Q>R No ClinGen
gnomAD
TCGA novel 882 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200052598
CA4491881
883 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA4491882
rs777191746
884 I>N No ClinGen
ExAC
gnomAD
CA4491883
rs201940150
886 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1213943997
CA369471177
887 S>L No ClinGen
gnomAD
CA4491885
rs140959939
888 R>W No ClinGen
ESP
ExAC
gnomAD
rs762919620
CA4491886
892 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA369471252
rs1436078501
896 R>S No ClinGen
gnomAD
CA369471261
rs1212712130
898 Y>H No ClinGen
gnomAD
CA369471280
rs1204943640
900 E>G No ClinGen
gnomAD
CA4491913
rs777087179
900 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1185382763
CA369471286
901 M>V No ClinGen
gnomAD
rs751083672
CA4491916
904 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs199617480
CA4491917
905 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4491918
rs745556169
907 D>G No ClinGen
ExAC
gnomAD
rs749704827
CA4491921
908 E>D No ClinGen
ExAC
gnomAD
rs1414327118
CA369471335
908 E>G No ClinGen
TOPMed
gnomAD
CA4491920
rs780529434
908 E>K No ClinGen
ExAC
gnomAD
TCGA novel 909 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491923
rs774258872
911 N>K No ClinGen
ExAC
gnomAD
CA369471361
rs1218461717
913 V>M No ClinGen
TOPMed
TCGA novel 914 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1337340321
CA369471367
914 V>L No ClinGen
gnomAD
rs1236430551
CA369471382
916 Q>E No ClinGen
gnomAD
CA369471387
rs1280725977
916 Q>H No ClinGen
gnomAD
rs1563110273
CA369471392
917 G>D No ClinGen
Ensembl
rs1276379574
CA369471395
918 V>M No ClinGen
TOPMed
rs138103779
CA4491926
920 Y>S No ClinGen
ESP
ExAC
gnomAD
COSM1448169
CA4491927
rs149542788
921 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs267601298
CA167489075
922 E>K No ClinGen
Ensembl
CA369471437
rs1239885003
924 E>G No ClinGen
gnomAD
CA167489076
rs934708466
925 Y>C No ClinGen
TOPMed
gnomAD
rs775369791
CA4491929
925 Y>H No ClinGen
ExAC
gnomAD
rs762730898
CA4491930
926 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs1169322676
CA369471448
926 I>V No ClinGen
gnomAD
CA167489078
rs202008012
928 A>G No ClinGen
gnomAD
rs372175359
CA4491933
928 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA167489079
rs967160906
929 L>V No ClinGen
Ensembl
rs750088564
CA4491935
932 L>P No ClinGen
ExAC
gnomAD
rs199638264
CA167489080
934 R>C No ClinGen
TOPMed
gnomAD
CA4491936
rs200509714
934 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369471510
rs6953296
936 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369471512
rs749697208
937 T>A No ClinGen
ExAC
gnomAD
CA4491938
rs749697208
937 T>P No ClinGen
ExAC
gnomAD
CA369471535
rs1281443973
941 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4491941
rs748689718
944 T>I No ClinGen
ExAC
gnomAD
rs1223871786
CA369471562
945 Q>P No ClinGen
TOPMed
CA369471563
rs1223871786
945 Q>R No ClinGen
TOPMed
CA4491943
rs111239622
947 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA167489084
rs922036511
950 Q>P No ClinGen
gnomAD
CA369471596
rs922036511
950 Q>R No ClinGen
gnomAD
CA4491945
rs771186541
951 R>S No ClinGen
ExAC
gnomAD
CA369471607
rs1463066117
952 L>F No ClinGen
gnomAD
CA4491947
rs762787759
953 K>N No ClinGen
ExAC
gnomAD
rs183441634
CA4491946
953 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 954 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4491948
rs369505087
955 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1585365966
CA369471639
957 C>G No ClinGen
Ensembl
rs1336134896
CA369471664
960 A>S No ClinGen
gnomAD
rs761900215
CA4491950
968 D>G No ClinGen
ExAC
gnomAD
rs1233335515
CA369471729
969 K>R No ClinGen
TOPMed
gnomAD
CA4491953
rs755790912
971 I>V No ClinGen
ExAC
gnomAD
rs1208609647
CA369471757
973 T>I No ClinGen
TOPMed
gnomAD
rs1208609647
CA369471755
973 T>N No ClinGen
TOPMed
gnomAD
CA369471758
rs1438763079
COSM1330063
974 V>I ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD

No associated diseases with Q96A65

1 regional properties for Q96A65

Type Name Position InterPro Accession
domain Exocyst complex component Sec8, N-terminal 45 - 143 IPR007191

Functions

Description
EC Number
Subcellular Localization
  • Midbody, Midbody ring
  • Cell projection
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214)
  • Localizes at the leading edge of migrating cells (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
exocyst A protein complex peripherally associated with the plasma membrane that determines where vesicles dock and fuse. At least eight complex components are conserved between yeast and mammals.
Flemming body A cell part that is the central region of the midbody characterized by a gap in alpha-tubulin staining. It is a dense structure of antiparallel microtubules from the central spindle in the middle of the intercellular bridge.
growth cone membrane The portion of the plasma membrane surrounding a growth cone.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
myelin sheath abaxonal region The region of the myelin sheath furthest from the axon.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

3 GO annotations of molecular function

Name Definition
PDZ domain binding Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
protein N-terminus binding Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
small GTPase binding Binding to a small monomeric GTPase.

10 GO annotations of biological process

Name Definition
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
Golgi to plasma membrane transport The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
membrane fission A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes.
mitotic cytokinesis A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
paraxial mesoderm formation The process that gives rise to the paraxial mesoderm. This process pertains to the initial formation of the structure from unspecified parts.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of macroautophagy Any process that modulates the frequency, rate or extent of macroautophagy.
vesicle docking involved in exocytosis The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis.
vesicle tethering involved in exocytosis The initial, indirect interaction between a secretory vesicle membrane and a site of exocytosis in the plasma membrane. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior to docking and fusion.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9VNH6 Sec8 Exocyst complex component 4 Drosophila melanogaster (Fruit fly) PR
10 20 30 40 50 60
MAAEAAGGKY RSTVSKSKDP SGLLISVIRT LSTSDDVEDR ENEKGRLEEA YEKCDRDLDE
70 80 90 100 110 120
LIVQHYTELT TAIRTYQSIT ERITNSRNKI KQVKENLLSC KMLLHCKRDE LRKLWIEGIE
130 140 150 160 170 180
HKHVLNLLDE IENIKQVPQK LEQCMASKHY LSATDMLVSA VESLEGPLLQ VEGLSDLRLE
190 200 210 220 230 240
LHSKKMNLHL VLIDELHRHL YIKSTSRVVQ RNKEKGKISS LVKDASVPLI DVTNLPTPRK
250 260 270 280 290 300
FLDTSHYSTA GSSSVREINL QDIKEDLELD PEENSTLFMG ILIKGLAKLK KIPETVKAII
310 320 330 340 350 360
ERLEQELKQI VKRSTTQVAD SGYQRGENVT VENQPRLLLE LLELLFDKFN AVAAAHSVVL
370 380 390 400 410 420
GYLQDTVVTP LTQQEDIKLY DMADVWVKIQ DVLQMLLTEY LDMKNTRTAS EPSAQLSYAS
430 440 450 460 470 480
TGREFAAFFA KKKPQRPKNS LFKFESSSHA ISMSAYLREQ RRELYSRSGE LQGGPDDNLI
490 500 510 520 530 540
EGGGTKFVCK PGARNITVIF HPLLRFIQEI EHALGLGPAK QCPLREFLTV YIKNIFLNQV
550 560 570 580 590 600
LAEINKEIEG VTKTSDPLKI LANADTMKVL GVQRPLLQST IIVEKTVQDL LNLMHDLSAY
610 620 630 640 650 660
SDQFLNMVCV KLQEYKDTCT AAYRGIVQSE EKLVISASWA KDDDISRLLK SLPNWMNMAQ
670 680 690 700 710 720
PKQLRPKREE EEDFIRAAFG KESEVLIGNL GDKLIPPQDI LRDVSDLKAL ANMHESLEWL
730 740 750 760 770 780
ASRTKSAFSN LSTSQMLSPA QDSHTNTDLP PVSEQIMQTL SELAKSFQDM ADRCLLVLHL
790 800 810 820 830 840
EVRVHCFHYL IPLAKEGNYA IVANVESMDY DPLVVKLNKD ISAIEEAMSA SLQQHKFQYI
850 860 870 880 890 900
FEGLGHLISC ILINGAQYFR RISESGIKKM CRNIFVLQQN LTNITMSREA DLDFARQYYE
910 920 930 940 950 960
MLYNTADELL NLVVDQGVKY TELEYIHALT LLHRSQTGVG ELTTQNTRLQ RLKEIICEQA
970
AIKQATKDKK ITTV