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 O75182

Entry ID Method Resolution Chain Position Source
8BPA EM 370 A A 1-1162 PDB
8BPB EM 280 A A 1-1162 PDB
8BPC EM 280 A A 1-1162 PDB
8C60 EM 340 A A 1-1162 PDB
AF-O75182-F1 Predicted AlphaFoldDB

785 variants for O75182

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1446149304
CA404635977
2 A>T No ClinGen
gnomAD
rs1329459059
CA404635980
2 A>V No ClinGen
gnomAD
TCGA novel 3 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404635995
rs1235338132
4 A>G No ClinGen
TOPMed
rs1305780381
CA404636005
6 G>C No ClinGen
TOPMed
rs1305780381
CA404636003
6 G>S No ClinGen
TOPMed
CA306018757
rs931305537
6 G>V No ClinGen
Ensembl
rs371279373
CA306018761
8 S>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs937189956
CA306018763
8 S>I No ClinGen
Ensembl
CA404636019
rs1440004782
8 S>R No ClinGen
gnomAD
rs1326341173
CA404636022
9 G>C No ClinGen
gnomAD
rs1038431550
CA404636029
10 G>A No ClinGen
TOPMed
rs1038431550
CA306018765
10 G>D No ClinGen
TOPMed
CA306018767
rs1056992434
11 S>G No ClinGen
TOPMed
CA404636033
rs1372999969
11 S>N No ClinGen
gnomAD
CA306018769
rs895620080
13 A>S No ClinGen
TOPMed
gnomAD
rs1287064672
CA404636072
17 A>V No ClinGen
gnomAD
rs1239571397
CA404636080
19 R>W No ClinGen
TOPMed
CA404636135
rs1355644369
27 G>V No ClinGen
TOPMed
rs957542038
CA306018783
29 S>W No ClinGen
TOPMed
rs558052777
CA306018785
30 G>C No ClinGen
1000Genomes
CA404636177
rs1402181870
34 H>Q No ClinGen
TOPMed
CA404636201
rs1365956221
38 P>L No ClinGen
gnomAD
CA306018789
rs999852263
38 P>S No ClinGen
TOPMed
CA9282742
rs370861019
44 A>T No ClinGen
ESP
ExAC
TOPMed
CA9282744
rs747935169
46 T>S No ClinGen
ExAC
gnomAD
CA9282746
rs777836617
54 R>H No ClinGen
ExAC
gnomAD
CA404636454
rs1354343022
55 F>S No ClinGen
gnomAD
rs1162675437
CA404636473
57 S>R No ClinGen
gnomAD
CA9282749
rs776713378
58 D>E No ClinGen
ExAC
gnomAD
rs770920138
CA9282748
58 D>N No ClinGen
ExAC
gnomAD
rs1568410010
CA404636496
60 A>T No ClinGen
Ensembl
CA404636513
rs1568410013
61 T>I No ClinGen
Ensembl
CA9282750
rs746434088
63 N>S No ClinGen
ExAC
gnomAD
CA404636540
rs1398503561
64 G>S No ClinGen
gnomAD
CA9282754
rs763384742
67 E>G No ClinGen
ExAC
gnomAD
rs866523206
CA306018879
68 I>T No ClinGen
Ensembl
TCGA novel 69 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1599583932
CA404636684
72 F>V No ClinGen
Ensembl
CA9282777
rs760305814
77 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA404637049
rs1259449664
78 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1364789551
CA404637123
83 I>T No ClinGen
gnomAD
CA306019300
rs920739323
84 R>G No ClinGen
TOPMed
rs1568410542
CA404637149
COSM181890
85 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA9282779
rs776160582
85 R>H No ClinGen
ExAC
gnomAD
CA9282781
rs764678519
87 S>L No ClinGen
ExAC
gnomAD
CA404637167
rs764678519
87 S>W No ClinGen
ExAC
gnomAD
rs1375507962
CA404637170
88 Q>* No ClinGen
gnomAD
CA404637169
rs1375507962
88 Q>E No ClinGen
gnomAD
CA404637168
rs1375507962
88 Q>K No ClinGen
gnomAD
CA404637191
rs1336163945
91 H>D No ClinGen
gnomAD
rs751363811
CA9282785
91 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA9282787
rs371285274
92 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1039016113
COSM711327
CA306019312
92 E>K lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1320869200
CA404637206
93 H>P No ClinGen
TOPMed
rs1204217350
CA404637205
93 H>Y No ClinGen
gnomAD
CA9282790
rs200751623
97 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9282789
rs756297307
97 I>V No ClinGen
ExAC
gnomAD
CA404637259
rs1458357130
101 N>S No ClinGen
TOPMed
rs769196384
CA9282792
102 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA404637286
rs1431882216
105 P>H No ClinGen
gnomAD
TCGA novel 106 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 113 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9282794
rs748515617
114 K>E No ClinGen
ExAC
gnomAD
CA404637363
rs1189492782
116 G>A No ClinGen
TOPMed
TCGA novel 116 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA306019326
rs933246586
117 K>R No ClinGen
gnomAD
CA9282796
rs368592710
121 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61739673
CA404637404
122 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9282797
rs61739673
122 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9282826
rs766678442
128 E>D No ClinGen
ExAC
gnomAD
rs141227814
COSM78491
CA9282827
130 S>L ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1386634484
CA404635330
131 H>Y No ClinGen
gnomAD
rs1599592150
CA404635337
132 N>D No ClinGen
Ensembl
CA9282829
rs558495523
134 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201238702
CA9282831
135 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1158177059
CA404635366
135 D>N No ClinGen
gnomAD
rs778176585
CA9282832
136 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA404635383
rs1328837609
137 A>T No ClinGen
gnomAD
CA305985245
rs922632072
138 E>Q No ClinGen
Ensembl
TCGA novel 140 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1568413987
CA404635433
141 K>E No ClinGen
Ensembl
CA404635493
rs1382150710
145 P>A No ClinGen
gnomAD
CA305985256
rs929991049
145 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 146 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404635501
rs1315294767
146 Y>H No ClinGen
TOPMed
rs1336835675
CA404635515
147 K>E No ClinGen
gnomAD
CA9282834
rs755809876
149 D>G No ClinGen
ExAC
gnomAD
CA305985280
rs867819191
151 P>H No ClinGen
Ensembl
rs779774427
CA9282835
151 P>S No ClinGen
ExAC
gnomAD
CA9282837
rs748849746
154 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA404635603
rs1599592230
154 P>L No ClinGen
Ensembl
rs748849746
CA9282836
154 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA404635615
rs1568414015
156 E>Q No ClinGen
Ensembl
rs778232037
CA9282838
158 D>N No ClinGen
ExAC
gnomAD
rs374226924
CA9282840
160 V>L No ClinGen
ESP
ExAC
gnomAD
CA9282839
rs374226924
160 V>M No ClinGen
ESP
ExAC
gnomAD
CA404635698
rs1301642673
163 N>S No ClinGen
gnomAD
CA9282842
rs760524139
164 N>D No ClinGen
ExAC
gnomAD
CA404635820
rs1402177322
174 T>N No ClinGen
gnomAD
TCGA novel 175 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 175 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1424154797
CA404635832
176 F>Y No ClinGen
TOPMed
TCGA novel 184 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764562241
CA9282849
192 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs764562241
CA404635945
192 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 199 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404636638
rs1490407830
199 N>S No ClinGen
TOPMed
rs1270614718
CA404636667
200 T>M No ClinGen
TOPMed
CA9282876
rs777353760
200 T>S No ClinGen
ExAC
gnomAD
rs1410781598
CA404636669
201 R>G No ClinGen
gnomAD
rs749428149
CA305989991
202 G>V No ClinGen
Ensembl
rs757136055
CA9282878
203 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs959675144
CA305990002
203 R>W No ClinGen
Ensembl
rs557026752
CA404636710
204 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA9282879
rs557026752
204 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA9282881
rs769582749
206 R>Q No ClinGen
ExAC
gnomAD
rs749442231
CA9282883
208 M>V No ClinGen
ExAC
gnomAD
rs1267941253
CA404636788
209 S>Y No ClinGen
gnomAD
TCGA novel 210 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs991469404
CA305990023
211 E>K No ClinGen
Ensembl
CA404636835
rs1599595438
213 V>G No ClinGen
Ensembl
TCGA novel 215 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1276375760
CA404636860
216 E>K No ClinGen
TOPMed
rs762377285
CA9282886
219 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs773679004
CA9282888
222 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs760970783
CA9282889
233 Q>H No ClinGen
ExAC
gnomAD
CA9282892
rs758067163
237 E>K No ClinGen
ExAC
gnomAD
rs751080871
CA9282894
239 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA9282895
rs751080871
239 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA404637124
rs1384662339
240 R>Q No ClinGen
TOPMed
gnomAD
CA404637743
rs1202925745
244 T>I No ClinGen
TOPMed
gnomAD
CA404637745
rs1202925745
244 T>R No ClinGen
TOPMed
gnomAD
TCGA novel
CA9282925
rs200695908
247 G>R Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs137867126
CA9282927
248 P>L No ClinGen
ESP
ExAC
gnomAD
rs747529358
CA9282926
248 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs770242845
CA9282930
250 E>K No ClinGen
ExAC
gnomAD
rs1174870718
CA404637842
251 M>I No ClinGen
gnomAD
rs1480417935
CA404637834
251 M>L No ClinGen
gnomAD
CA404637853
rs1403289269
252 H>R No ClinGen
gnomAD
rs1471777740
CA404637861
253 S>G No ClinGen
TOPMed
rs773875029
CA9282932
253 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs372704525
CA9282933
254 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA305994117
rs372704525
254 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9282935
rs749942191
255 Q>P No ClinGen
ExAC
gnomAD
CA404637913
rs1308963464
256 K>N No ClinGen
gnomAD
CA404637932
rs1568417266
258 E>D No ClinGen
Ensembl
rs753729355
CA9282939
260 D>N No ClinGen
ExAC
gnomAD
CA9282940
rs754803648
261 K>E No ClinGen
ExAC
gnomAD
rs778612005
CA9282941
262 T>N No ClinGen
ExAC
gnomAD
rs752875974
CA9282942
263 P>L No ClinGen
ExAC
gnomAD
rs1291049951
CA404637962
263 P>T No ClinGen
TOPMed
CA305994229
rs1014327928
264 E>A No ClinGen
TOPMed
CA305994230
rs1014327928
264 E>G No ClinGen
TOPMed
rs895847991
CA305994224
264 E>Q No ClinGen
Ensembl
TCGA novel 265 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000970757
rs61754499
CA9282946
266 S>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1435161474
CA404637990
267 R>S No ClinGen
TOPMed
CA9282947
rs148249040
269 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9282948
rs746309643
269 R>H No ClinGen
ExAC
gnomAD
rs563163448
CA9282949
271 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1056689692
CA305994246
271 R>W No ClinGen
TOPMed
gnomAD
rs771722027
CA9282952
272 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA404638023
rs1370973429
273 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9282956
rs776558509
274 L>F No ClinGen
ExAC
gnomAD
rs1347385300
CA404638029
275 L>F No ClinGen
gnomAD
rs759412750
CA9282957
276 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9282958
rs765001220
276 R>H No ClinGen
ExAC
gnomAD
rs752534796
CA9282959
277 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751691634
CA9282962
278 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 279 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404638060
rs1359174922
280 A>V No ClinGen
gnomAD
rs781358567
CA9282964
281 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141789662
CA9282966
282 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780320420
CA9282967
283 K>Q No ClinGen
ExAC
gnomAD
rs1458737122
CA404638267
284 K>R No ClinGen
gnomAD
TCGA novel 286 M>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9282985
rs200050344
286 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA404638330
rs1450785633
288 L>P No ClinGen
TOPMed
gnomAD
rs551562375
COSM284997
CA9282986
289 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs551562375
CA404638335
289 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1053297603
CA305995950
289 R>H No ClinGen
TOPMed
TCGA novel 293 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1417811688
CA404638394
294 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9282987
rs779094465
296 I>F No ClinGen
ExAC
gnomAD
CA9282989
rs542264653
297 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA404638469
rs1184533893
301 K>T No ClinGen
Ensembl
CA404638516
rs1201418508
305 L>V No ClinGen
gnomAD
TCGA novel 306 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238776793
CA404638625
313 K>E No ClinGen
gnomAD
rs780851133
CA9283008
315 R>C No ClinGen
ExAC
gnomAD
rs745454131
CA9283009
315 R>H No ClinGen
ExAC
gnomAD
CA305996807
rs779413580
316 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9283011
rs779413580
316 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749314867
CA9283012
319 K>R No ClinGen
ExAC
gnomAD
CA305996817
rs1005646171
322 E>G No ClinGen
TOPMed
CA9283013
rs768446761
323 V>A No ClinGen
ExAC
gnomAD
rs774335992
CA9283014
325 E>K No ClinGen
ExAC
gnomAD
CA9283016
rs771955339
329 R>C No ClinGen
ExAC
gnomAD
CA305996867
rs368177077
329 R>H No ClinGen
ESP
TOPMed
rs1271959820
CA404638880
331 I>V No ClinGen
gnomAD
COSM438853
CA9283018
rs760752165
332 A>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404638903
rs1200893243
334 F>L No ClinGen
gnomAD
rs754895779
CA9283020
334 F>Y No ClinGen
ExAC
gnomAD
rs760132977
CA9283021
335 N>S No ClinGen
ExAC
gnomAD
rs1283417746
CA404638915
336 Q>R No ClinGen
TOPMed
rs753160742
CA404638933
339 V>L No ClinGen
ExAC
gnomAD
CA9283023
rs753160742
339 V>M No ClinGen
ExAC
gnomAD
TCGA novel 341 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404638951
rs1163415255
342 S>A No ClinGen
gnomAD
rs758763160
CA9283024
342 S>F No ClinGen
ExAC
gnomAD
CA9283025
rs778051465
348 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA9283026
rs750144359
350 P>R No ClinGen
ExAC
gnomAD
rs753487544
CA9283049
354 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA404640033
rs1262164722
355 F>C No ClinGen
gnomAD
CA9283051
rs778510867
356 P>A No ClinGen
ExAC
gnomAD
CA9283052
rs778510867
356 P>T No ClinGen
ExAC
gnomAD
rs200523165
CA9283053
360 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1444331011
CA404640072
361 Q>R No ClinGen
gnomAD
TCGA novel 368 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404640132
rs1484461995
370 E>Q No ClinGen
gnomAD
CA404640142
rs142026795
371 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142026795
CA9283057
371 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404640155
rs139223639
373 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9283058
rs746041626
373 F>V No ClinGen
ExAC
gnomAD
TCGA novel 373 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9283060
rs149533205
374 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369206489
CA9283061
COSM288353
374 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404640170
rs1568421324
376 P>R No ClinGen
Ensembl
CA9283062
rs187200428
377 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9283064
rs762114000
379 D>N No ClinGen
ExAC
gnomAD
CA9283065
rs767857856
381 S>P No ClinGen
ExAC
gnomAD
CA306003184
rs1053413041
382 G>R No ClinGen
TOPMed
gnomAD
rs754665574
CA9283067
383 D>N No ClinGen
ExAC
gnomAD
COSM1225755
CA9283069
rs752227470
384 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA404640224
rs1481788083
385 I>L No ClinGen
TOPMed
CA9283072
rs746927268
386 S>G No ClinGen
ExAC
gnomAD
CA404640240
rs781024383
387 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs781024383
CA9283074
387 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9283073
rs564988933
387 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283075
rs746152842
389 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA306003217
rs200564763
390 D>N No ClinGen
TOPMed
rs780156941
CA9283077
393 S>P No ClinGen
ExAC
TOPMed
gnomAD
COSM992588
CA404640299
rs1172751156
396 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA9283078
rs749391401
396 R>L No ClinGen
ExAC
gnomAD
rs1309789244
CA404640306
397 I>T No ClinGen
gnomAD
TCGA novel 400 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404640341
rs1404226048
402 R>Q No ClinGen
gnomAD
CA404640592
rs1234285002
408 Y>C No ClinGen
gnomAD
rs1599605669
CA404640634
411 P>H No ClinGen
Ensembl
CA9283082
rs772379581
412 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 414 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 416 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 416 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1568421455
CA404640743
419 I>N No ClinGen
Ensembl
CA9283102
rs370940671
423 L>F No ClinGen
ESP
ExAC
gnomAD
rs1437573766
CA404640843
424 D>N No ClinGen
gnomAD
CA404640853
rs1401494256
425 H>Y No ClinGen
TOPMed
RCV000880686
rs144873823
CA9283104
426 W>* No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1315256744
CA404640872
427 T>I No ClinGen
TOPMed
gnomAD
rs1322921887
CA404640875
428 L>F No ClinGen
gnomAD
CA306003510
rs1027522366
430 Q>* No ClinGen
TOPMed
gnomAD
rs772602173
CA9283105
430 Q>R No ClinGen
ExAC
gnomAD
CA404640901
rs1210219692
432 S>W No ClinGen
gnomAD
CA9283107
rs761147809
434 T>I No ClinGen
ExAC
gnomAD
rs1179973162
CA404640920
435 D>A No ClinGen
TOPMed
gnomAD
CA9283110
rs762650758
436 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA404640927
rs762650758
436 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA9283109
rs775289310
436 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs763576604
CA9283111
437 Y>F No ClinGen
ExAC
gnomAD
rs1458826184
CA404640962
441 K>E No ClinGen
gnomAD
TCGA novel 445 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767511824
CA9283114
446 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA9283113
rs761701383
446 C>F No ClinGen
ExAC
CA404641021
rs754372470
449 P>A No ClinGen
gnomAD
CA306003560
rs754372470
449 P>S No ClinGen
gnomAD
CA306003556
rs754372470
449 P>T No ClinGen
gnomAD
CA9283115
rs750321022
451 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 453 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404641160
rs1298585259
458 D>V No ClinGen
TOPMed
rs776639335
CA404641197
463 F>L No ClinGen
ExAC
gnomAD
rs1212319094
CA404641255
472 F>V No ClinGen
TOPMed
gnomAD
CA9283175
rs775114267
473 V>I No ClinGen
ExAC
gnomAD
CA306004135
rs894438012
476 K>R No ClinGen
TOPMed
rs746657713
COSM1712004
CA306004155
479 P>L skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1267078181
CA404641307
480 Y>H No ClinGen
TOPMed
rs751788314
COSM992596
CA9283178
481 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1178178519
CA404641353
486 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 490 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA306004193
rs907257212
490 E>K No ClinGen
Ensembl
CA9283199
rs750439502
500 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA404641470
rs1599607961
501 N>T No ClinGen
Ensembl
rs371214693
CA9283203
505 I>V No ClinGen
ESP
ExAC
gnomAD
CA404641500
rs1418982296
506 R>C No ClinGen
gnomAD
TCGA novel 506 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1482387474
CA404641521
509 E>G No ClinGen
gnomAD
rs765530665
CA9283204
515 L>M No ClinGen
ExAC
gnomAD
CA404641575
TCGA novel
rs1599608003
517 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA404641579
rs945798851
518 M>L No ClinGen
gnomAD
CA306008660
rs945798851
518 M>V No ClinGen
gnomAD
CA404641586
rs1326282640
519 A>T No ClinGen
gnomAD
rs745765809
CA9283207
519 A>V No ClinGen
ExAC
gnomAD
rs755608060
CA9283209
520 P>L Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1428130477
CA404641598
521 E>* No ClinGen
gnomAD
CA404641604
rs1269220728
522 D>N No ClinGen
gnomAD
CA404641614
COSM1680782
rs1427765806
523 Q>* large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1427765806
CA404641613
523 Q>E No ClinGen
gnomAD
TCGA novel 524 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1397319820
CA404641645
527 R>G No ClinGen
TOPMed
gnomAD
CA404641646
rs1386341756
527 R>Q No ClinGen
gnomAD
CA404641644
rs1397319820
527 R>W No ClinGen
TOPMed
gnomAD
CA404641658
rs1427221175
529 D>G No ClinGen
Ensembl
rs774283092
CA9283213
530 D>N No ClinGen
ExAC
gnomAD
CA404641697
rs1280692739
535 T>M No ClinGen
gnomAD
CA9283215
rs772162952
536 S>L No ClinGen
ExAC
gnomAD
rs1290962626
CA404641705
537 E>Q No ClinGen
gnomAD
rs1599608092
CA404641716
538 V>G No ClinGen
Ensembl
CA9283218
rs766416335
539 I>N No ClinGen
ExAC
gnomAD
CA404641718
rs1252349682
539 I>V No ClinGen
gnomAD
CA9283220
rs760026073
541 R>C No ClinGen
ExAC
gnomAD
CA404641733
rs1455347133
541 R>H No ClinGen
gnomAD
CA9283221
rs565050507
542 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1241722646
CA404641758
545 Y>C No ClinGen
TOPMed
gnomAD
CA404641763
rs1389356208
546 R>C No ClinGen
gnomAD
rs1382475708
CA404641779
548 Y>C No ClinGen
TOPMed
CA9283224
rs767103432
551 K>R No ClinGen
ExAC
gnomAD
CA9283225
rs201411175
553 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 553 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9283228
rs368153359
556 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404641836
rs1320056070
557 E>K No ClinGen
gnomAD
rs754934495
CA9283229
558 S>I No ClinGen
ExAC
gnomAD
rs1231154237
CA404641866
561 K>E No ClinGen
TOPMed
gnomAD
rs1296739906
CA404641871
561 K>N No ClinGen
gnomAD
CA404641877
rs1321690370
562 N>S No ClinGen
gnomAD
CA404641883
rs1263195610
563 P>S No ClinGen
gnomAD
rs1213935583
CA404641894
565 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 566 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404641916
rs1463265701
568 P>L No ClinGen
gnomAD
rs371313884
CA9283233
569 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769795328
CA404641985
577 K>N No ClinGen
ExAC
gnomAD
TCGA novel 580 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775986985
CA9283265
582 R>Q No ClinGen
ExAC
gnomAD
CA9283266
rs77862089
583 E>G No ClinGen
ExAC
gnomAD
rs768967960
CA9283268
584 A>G No ClinGen
ExAC
gnomAD
rs1431622760
CA404642064
588 F>L No ClinGen
gnomAD
CA404642099
rs774746144
593 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA404642117
rs1568423325
595 Q>H No ClinGen
Ensembl
rs766152964
CA9283271
596 Y>F No ClinGen
ExAC
gnomAD
rs150614695
CA306009157
598 K>R No ClinGen
ESP
rs753502048
CA9283272
599 A>V No ClinGen
ExAC
gnomAD
rs865969150
COSM992599
CA306009179
601 L>F Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1454893688
CA404642158
601 L>R No ClinGen
TOPMed
rs1352271750
CA404642174
604 L>V No ClinGen
gnomAD
TCGA novel 605 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 612 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1414843531
CA404642282
614 N>D No ClinGen
gnomAD
CA404642324
rs1157891024
616 T>I No ClinGen
TOPMed
rs777472916
CA9283278
621 S>C No ClinGen
ExAC
gnomAD
rs1348277108
CA404642399
623 S>G No ClinGen
gnomAD
CA404642435
rs1272315695
625 L>R No ClinGen
gnomAD
rs1181459328
CA404642458
627 E>V No ClinGen
TOPMed
CA9283283
rs765828024
630 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs765828024
CA306009202
630 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs749797171
CA9283285
631 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs769470249
CA9283310
638 Q>R No ClinGen
ExAC
TOPMed
CA404642930
rs1599611206
639 H>P No ClinGen
Ensembl
rs774961122
CA9283311
640 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404642949
rs1328809884
642 G>S No ClinGen
gnomAD
rs774327119
CA9283314
643 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9283315
rs761732809
643 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1425130897
CA404642960
644 S>C No ClinGen
TOPMed
CA404642963
rs1447878569
644 S>N No ClinGen
gnomAD
rs767339010
CA9283316
645 A>G No ClinGen
ExAC
gnomAD
rs1187477874
CA404642966
645 A>T No ClinGen
gnomAD
CA404642970
rs767339010
645 A>V No ClinGen
ExAC
gnomAD
rs140033053
CA9283317
646 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283318
rs140033053
646 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283320
rs372471646
647 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA306011176
rs372471646
647 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA306011178
rs974392592
648 S>G No ClinGen
gnomAD
CA9283323
rs748733538
650 P>A No ClinGen
ExAC
gnomAD
rs1416518095
CA404643009
652 L>F No ClinGen
gnomAD
CA9283327
rs771163677
657 E>K No ClinGen
ExAC
gnomAD
CA9283330
rs748875994
659 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9283329
rs748875994
659 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779766057
CA9283328
659 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs773816761
CA9283331
661 I>V No ClinGen
ExAC
gnomAD
CA404643104
rs1370470959
666 A>G No ClinGen
gnomAD
CA9283334
rs773092558
667 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA306011194
rs914745773
669 I>V No ClinGen
gnomAD
CA9283338
rs759674357
670 S>N No ClinGen
ExAC
gnomAD
rs758507003
CA9283341
673 V>A No ClinGen
ExAC
gnomAD
rs752805696
CA9283340
673 V>M No ClinGen
ExAC
gnomAD
rs1599611404
CA404643154
674 K>R No ClinGen
Ensembl
CA9283343
rs752051287
675 R>Q No ClinGen
ExAC
gnomAD
rs778459904
CA9283342
675 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9283344
rs757694156
677 P>A No ClinGen
ExAC
gnomAD
CA9283345
rs143042146
677 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA306011212
rs868181786
678 A>T No ClinGen
Ensembl
CA404643194
rs1235686746
681 K>E No ClinGen
gnomAD
CA306011213
rs932290796
681 K>R No ClinGen
Ensembl
CA404643200
rs1568424877
682 E>K No ClinGen
Ensembl
CA404643213
rs1599611472
683 D>A No ClinGen
Ensembl
rs1210502840
CA404643233
685 G>A No ClinGen
TOPMed
CA404643237
rs1479939529
686 T>A No ClinGen
gnomAD
rs1479939529
CA404643236
686 T>P No ClinGen
gnomAD
rs1252016707
CA404643243
687 I>V No ClinGen
gnomAD
CA404643252
rs1599611492
688 H>P No ClinGen
Ensembl
CA404643259
rs1195226542
689 Q>* No ClinGen
gnomAD
rs1393045271
CA404643262
689 Q>R No ClinGen
gnomAD
rs1599611515
CA404643278
692 H>P No ClinGen
Ensembl
CA404643275
rs1174020181
692 H>Y No ClinGen
gnomAD
CA404643297
rs770828485
694 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1300020505
CA404643299
695 V>L No ClinGen
gnomAD
CA404643301
rs1300020505
695 V>M No ClinGen
gnomAD
CA404643311
rs1232859650
697 S>R No ClinGen
TOPMed
rs776260371
CA9283356
705 D>G No ClinGen
ExAC
gnomAD
rs776260371
CA9283355
705 D>V No ClinGen
ExAC
gnomAD
CA9283357
rs373630570
707 G>R No ClinGen
ESP
ExAC
gnomAD
TCGA novel 708 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404643398
rs1297278286
710 E>K No ClinGen
gnomAD
rs752172943
CA9283361
713 A>P No ClinGen
ExAC
gnomAD
rs1391584480
CA404643439
716 D>N No ClinGen
TOPMed
CA9283362
rs757671077
717 R>Q No ClinGen
ExAC
gnomAD
CA306011226
rs997851710
717 R>W No ClinGen
TOPMed
gnomAD
CA404643450
rs1030127335
718 D>H No ClinGen
TOPMed
gnomAD
CA306011232
rs1030127335
718 D>N No ClinGen
TOPMed
gnomAD
rs781655251
CA9283363
719 S>G No ClinGen
ExAC
gnomAD
rs1194070983
CA404643467
720 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1599611612
CA404643500
725 T>P No ClinGen
Ensembl
rs888966721
CA306011238
727 P>S No ClinGen
TOPMed
CA404643524
rs1165925378
728 S>R No ClinGen
TOPMed
CA404643520
rs1172360232
728 S>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9283366
rs778540375
730 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs756459568
CA9283365
730 R>W Variant assessed as Somatic; 4.742e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757962198
CA9283368
732 K>N No ClinGen
ExAC
gnomAD
rs747740803
CA9283367
732 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA404643551
rs1462139773
733 P>A No ClinGen
gnomAD
CA9283369
rs145531447
733 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9283370
rs747009462
734 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1340386230
CA404643575
737 P>S No ClinGen
gnomAD
CA9283374
rs769649897
739 S>T No ClinGen
ExAC
rs755848169
CA9283375
741 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA404643631
rs755848169
741 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1259930531
CA404643650
742 P>L No ClinGen
TOPMed
gnomAD
CA404643647
rs1259930531
742 P>Q No ClinGen
TOPMed
gnomAD
rs981410828
CA306011267
744 E>K No ClinGen
Ensembl
CA9283378
rs774271087
745 K>N No ClinGen
ExAC
gnomAD
CA9283377
rs764307148
745 K>Q No ClinGen
ExAC
gnomAD
rs761901233
CA9283379
746 G>R No ClinGen
ExAC
gnomAD
rs767939881
CA9283380
747 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs756484758
CA9283382
749 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA404643759
rs1369429775
750 D>E No ClinGen
TOPMed
rs1158574825
CA404643747
750 D>H No ClinGen
gnomAD
rs958134578
CA306011270
751 A>S No ClinGen
TOPMed
rs752386239
CA9283384
752 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404643773
rs1455732655
752 P>S No ClinGen
gnomAD
rs777321270
CA9283386
754 T>A No ClinGen
ExAC
gnomAD
CA9283387
rs140965755
758 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1290928985
CA404643853
758 P>S No ClinGen
gnomAD
rs866589325
CA306011301
759 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs564862555
CA9283388
760 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283390
rs61761939
761 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1217726755
CA404643914
763 A>G No ClinGen
gnomAD
COSM1225763
rs769755250
CA9283391
764 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs749582841
CA9283393
765 H>Q No ClinGen
ExAC
gnomAD
CA306011309
rs547023509
766 K>E No ClinGen
1000Genomes
gnomAD
TCGA novel 766 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9283394
rs117307745
767 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1176680543
CA404643948
767 P>S No ClinGen
gnomAD
rs1599611836
CA404643970
770 D>E No ClinGen
Ensembl
rs761831913
CA9283397
770 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767585468
CA9283398
771 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs773641631
CA9283399
774 L>I No ClinGen
ExAC
gnomAD
rs1437492650
CA404644011
776 F>L No ClinGen
TOPMed
rs180697016
CA306011328
777 A>G No ClinGen
1000Genomes
ExAC
CA9283400
rs180697016
777 A>V No ClinGen
1000Genomes
ExAC
rs1279696115
CA404644020
778 N>S No ClinGen
TOPMed
rs1213483828
CA404644081
786 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1213483828
CA404644083
786 R>L No ClinGen
TOPMed
rs1568425193
CA404644091
788 H>Y No ClinGen
Ensembl
rs766795332
CA9283401
789 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA404644107
rs1376578192
790 T>I No ClinGen
gnomAD
TCGA novel 793 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs922155841
CA306011361
794 R>G No ClinGen
Ensembl
CA404644149
rs1259209117
797 K>R No ClinGen
TOPMed
gnomAD
rs933602338
CA306011374
799 Y>C No ClinGen
Ensembl
CA404644160
rs1599611902
799 Y>H No ClinGen
Ensembl
CA9283404
rs376663611
800 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283405
rs751179996
800 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1599611941
CA404644230
809 Y>D No ClinGen
Ensembl
CA306011385
rs939720992
810 R>Q No ClinGen
TOPMed
gnomAD
rs890796074
COSM3822231
CA306011384
810 R>W Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA404644244
rs1485957925
811 T>I No ClinGen
gnomAD
CA9283410
rs780084925
812 E>* No ClinGen
ExAC
gnomAD
CA404644246
rs780084925
812 E>Q No ClinGen
ExAC
gnomAD
rs367997445
CA306011391
813 K>E No ClinGen
ESP
CA404644262
rs1177958785
814 E>A No ClinGen
gnomAD
rs768533260
CA9283412
815 R>Q No ClinGen
ExAC
gnomAD
CA306011395
rs898266654
815 R>W No ClinGen
gnomAD
rs1479055287
CA404644270
816 E>K No ClinGen
TOPMed
gnomAD
rs779027108
CA9283413
817 K>R No ClinGen
ExAC
gnomAD
CA306011402
rs918926673
820 C>Y No ClinGen
TOPMed
gnomAD
rs1169156422
CA404644310
822 G>S No ClinGen
TOPMed
gnomAD
CA9283415
rs377517833
823 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA306011409
rs377517833
823 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404644320
rs1331538532
824 R>G No ClinGen
gnomAD
rs1438531902
CA404644332
825 E>D No ClinGen
gnomAD
CA9283416
rs773337506
825 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9283417
rs35297167
826 K>N No ClinGen
ExAC
gnomAD
CA404644338
rs1305321836
826 K>R No ClinGen
gnomAD
CA404644345
rs1213870126
827 G>A No ClinGen
TOPMed
gnomAD
CA404644344
rs1213870126
827 G>D No ClinGen
TOPMed
gnomAD
TCGA novel 828 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9283419
rs777053660
829 D>A No ClinGen
ExAC
gnomAD
rs889070962
CA306011432
829 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs889070962
CA404644355
829 D>Y No ClinGen
TOPMed
gnomAD
CA404644377
rs1195947265
832 M>T No ClinGen
gnomAD
rs1281453720
CA404644388
833 E>D No ClinGen
TOPMed
rs765584401
CA9283421
835 R>Q No ClinGen
ExAC
gnomAD
rs1222767803
CA404644408
837 K>R No ClinGen
TOPMed
CA9283423
rs761526908
839 P>S No ClinGen
ExAC
gnomAD
rs1294792584
CA404644426
840 S>G No ClinGen
TOPMed
rs1294792584
CA404644425
840 S>R No ClinGen
TOPMed
rs1599613143
CA404644829
840 S>R No ClinGen
Ensembl
rs758061150
CA9283454
841 E>D No ClinGen
ExAC
gnomAD
CA404644842
rs1599613146
842 V>G No ClinGen
Ensembl
CA306012093
rs374054984
844 L>P No ClinGen
ESP
TOPMed
CA306012099
rs897927742
846 E>A No ClinGen
TOPMed
gnomAD
CA9283457
rs757373099
846 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1599613168
CA404644871
847 Y>D No ClinGen
Ensembl
rs746423564
CA9283459
849 P>L No ClinGen
ExAC
gnomAD
rs267605339
CA306012123
850 A>V No ClinGen
Ensembl
rs1599613187
CA404644930
855 V>G No ClinGen
Ensembl
CA306012134
rs1028252104
856 R>Q No ClinGen
TOPMed
gnomAD
CA306012131
rs537427268
COSM1225757
856 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
rs1250880317
CA404644937
857 S>N No ClinGen
TOPMed
TCGA novel 857 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1335450494
CA404644941
857 S>R No ClinGen
TOPMed
gnomAD
CA404644970
rs1354787940
862 S>T No ClinGen
gnomAD
rs1599613255
CA404644984
864 D>A No ClinGen
Ensembl
rs368947489
CA9283465
866 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149583340
CA9283467
867 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1256177669
CA404645011
868 Y>F No ClinGen
gnomAD
rs1179143880
CA404645034
871 T>N No ClinGen
gnomAD
rs1599613285
CA404645031
871 T>P No ClinGen
Ensembl
TCGA novel 871 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404645038
rs1419259535
872 L>V No ClinGen
gnomAD
rs1440144163
CA404645045
873 R>H No ClinGen
gnomAD
CA306012186
rs1020030429
894 A>V No ClinGen
TOPMed
gnomAD
rs756110251
CA9283477
895 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 898 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404645718
rs1599618545
899 H>R No ClinGen
Ensembl
CA306014272
rs868862486
900 L>I No ClinGen
Ensembl
rs1467458792
CA404645727
901 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs762395678
CA9283508
902 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA404645740
rs1384373084
903 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9283510
rs139002895
904 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404645748
rs1340526880
904 D>N No ClinGen
gnomAD
CA306014293
rs374239561
905 V>A No ClinGen
ESP
TOPMed
CA404645756
rs143316883
905 V>F No ClinGen
ESP
ExAC
gnomAD
CA9283512
rs143316883
905 V>I No ClinGen
ESP
ExAC
gnomAD
CA404645839
rs1449211159
912 L>V No ClinGen
TOPMed
CA9283516
rs368519543
914 L>V No ClinGen
ESP
ExAC
gnomAD
CA9283518
rs779593280
916 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1246646861
CA404645912
918 K>Q No ClinGen
TOPMed
rs1424591317
CA404645927
919 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9283519
rs753206215
919 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758880094
CA9283520
920 G>D No ClinGen
ExAC
gnomAD
rs1568428364
CA404645953
921 A>V No ClinGen
Ensembl
CA306014324
rs920921525
922 A>T No ClinGen
TOPMed
gnomAD
CA404645996
rs1599618680
925 N>T No ClinGen
Ensembl
rs1299284451
CA404646024
927 S>F No ClinGen
TOPMed
gnomAD
CA404646021
rs1299284451
927 S>Y No ClinGen
TOPMed
gnomAD
CA9283523
rs200429230
929 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779393264
CA9283524
929 R>H No ClinGen
ExAC
gnomAD
CA9283522
rs200429230
929 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283525
rs748832527
931 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9283526
rs768108165
932 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9283527
rs550056938
932 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283529
rs771971309
933 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404646091
rs1347019392
933 A>V No ClinGen
gnomAD
CA9283530
rs772869307
934 A>T No ClinGen
ExAC
gnomAD
CA404646105
rs1239232205
935 R>G No ClinGen
TOPMed
gnomAD
CA404646103
rs1239232205
935 R>W No ClinGen
TOPMed
gnomAD
rs1599618741
CA404646134
937 T>P No ClinGen
Ensembl
rs766513868
CA9283532
938 S>G No ClinGen
ExAC
gnomAD
rs1568428422
CA404646147
938 S>I No ClinGen
Ensembl
rs1248877011
CA404646174
940 Q>R No ClinGen
TOPMed
gnomAD
CA9283534
rs759709746
941 W>R No ClinGen
ExAC
gnomAD
CA9283535
rs765384492
942 K>M No ClinGen
ExAC
gnomAD
CA9283536
rs753294158
945 R>C No ClinGen
ExAC
gnomAD
rs1433378419
CA404646242
945 R>H No ClinGen
TOPMed
gnomAD
rs758964917
CA9283537
946 C>S No ClinGen
ExAC
gnomAD
rs372429487
CA9283538
948 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283541
rs779598342
949 D>N No ClinGen
ExAC
gnomAD
rs1448769566
CA404646303
950 E>K No ClinGen
gnomAD
TCGA novel 954 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1599619182
CA404646449
955 V>G No ClinGen
Ensembl
rs1373242842
CA404646445
955 V>L No ClinGen
TOPMed
rs762378799
CA9283577
956 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1230434678
CA404646501
959 Q>R No ClinGen
gnomAD
rs150661186
CA9283578
960 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150661186
CA306014476
960 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769504888
COSM1225767
CA9283579
960 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA9283580
rs760964368
961 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs764899629
CA9283581
961 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs752342974
CA9283582
962 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA404646571
rs777304827
965 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs777304827
CA9283584
965 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs751515274
CA9283585
965 I>M No ClinGen
ExAC
gnomAD
CA404646587
rs1252077676
966 M>T No ClinGen
TOPMed
rs1055290855
CA306014492
966 M>V No ClinGen
TOPMed
rs781215770
CA9283587
969 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA404646620
rs781215770
969 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1156835205
CA404646671
973 T>A No ClinGen
gnomAD
rs769666253
CA9283589
974 E>Q No ClinGen
ExAC
gnomAD
CA404646717
rs1312326153
976 A>V No ClinGen
gnomAD
rs1338946957
CA404646741
978 T>M No ClinGen
TOPMed
gnomAD
rs749499866
CA9283591
979 E>A No ClinGen
ExAC
gnomAD
rs1238414185
CA404646777
981 P>A No ClinGen
TOPMed
gnomAD
rs1238414185
CA404646779
981 P>S No ClinGen
TOPMed
gnomAD
CA306014516
CA404646785
rs202214267
982 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9283593
rs202214267
982 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404646807
rs1254811155
984 V>I No ClinGen
gnomAD
CA404646825
rs1173958965
985 Q>R No ClinGen
TOPMed
rs1440843435
CA404646952
986 H>Y No ClinGen
gnomAD
CA9283611
rs768936961
988 A>V No ClinGen
ExAC
gnomAD
CA404646970
rs1333298965
989 R>Q No ClinGen
TOPMed
gnomAD
rs1478069292
CA404646969
989 R>W No ClinGen
TOPMed
gnomAD
rs772089041
CA9283614
991 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 992 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316953951
CA404647010
995 V>M No ClinGen
gnomAD
rs1599620121
CA404647032
998 E>G No ClinGen
Ensembl
rs1458091659
CA404647028
998 E>K No ClinGen
gnomAD
CA9283617
rs771351095
999 G>V No ClinGen
ExAC
gnomAD
CA9283618
rs566655086
1000 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283619
rs140209091
1000 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404647048
rs1334490123
1001 S>Y No ClinGen
TOPMed
CA9283621
rs201028029
1002 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283622
rs144154968
1002 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA306014965
rs201028029
1002 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283623
rs372700335
1003 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404647060
rs372700335
1003 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404647080
rs1393540351
1006 E>D No ClinGen
TOPMed
gnomAD
rs756111329
CA9283625
1007 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs753671585
CA9283627
1008 F>C No ClinGen
ExAC
gnomAD
rs766170546
CA9283626
1008 F>V No ClinGen
ExAC
gnomAD
rs1363468693
CA404647093
1009 L>V No ClinGen
TOPMed
rs1318130401
CA404647116
1012 P>L No ClinGen
gnomAD
CA404647134
rs1489443063
1015 L>P No ClinGen
gnomAD
CA9283630
rs748346299
1016 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA306015175
rs372160193
1020 K>R No ClinGen
ESP
TOPMed
gnomAD
CA9283646
rs530799566
1022 F>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1599620579
CA404647193
1022 F>S No ClinGen
Ensembl
CA306015177
rs530799566
1022 F>V No ClinGen
1000Genomes
ExAC
gnomAD
rs182647749
CA9283647
1023 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376755146
CA9283648
1023 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370020528
CA9283650
1024 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283651
rs777910155
1024 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs370020528
CA306015188
1024 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283653
rs757242128
1025 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs747092602
CA9283652
1025 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA306015200
rs867206726
1026 W>* No ClinGen
Ensembl
CA306015202
rs781732016
1028 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA9283656
rs746333267
1029 E>K No ClinGen
ExAC
gnomAD
CA9283655
rs746333267
1029 E>Q No ClinGen
ExAC
gnomAD
CA9283658
rs749616440
1031 A>S No ClinGen
ExAC
gnomAD
CA306015218
rs952111197
1031 A>V No ClinGen
gnomAD
CA404647249
rs1322570578
1032 R>Q No ClinGen
TOPMed
CA9283660
COSM992603
rs772960055
1032 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA9283662
COSM1225762
rs200337811
1035 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs776669770
CA9283663
1035 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs776669770
CA404647265
1035 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs375234398
CA9283666
1036 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283665
rs765138509
1036 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs375234398
CA404647270
1036 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM126179
CA9283667
rs762666436
1038 A>V upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1420961000
CA404647294
1040 S>N No ClinGen
TOPMed
gnomAD
rs904804263
CA306015234
1042 W>L No ClinGen
TOPMed
rs751729564
CA404647323
1044 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751729564
CA9283669
1044 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs764327319
CA9283668
1044 R>W No ClinGen
ExAC
gnomAD
rs201497679
CA9283670
1046 V>G No ClinGen
ExAC
gnomAD
rs1199662315
CA404647340
1048 V>M No ClinGen
TOPMed
gnomAD
CA9283675
rs780641130
1050 S>R No ClinGen
ExAC
gnomAD
CA404647363
rs1487761010
1051 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA404647361
rs1487761010
1051 A>T No ClinGen
TOPMed
gnomAD
rs372894104
CA9283677
1053 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200083712
CA9283679
1054 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs775990000
CA9283680
1055 D>N No ClinGen
ExAC
gnomAD
rs1354555594
CA404647404
1057 R>C No ClinGen
TOPMed
gnomAD
rs759029016
CA9283681
1057 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA306015263
rs924332898
1059 K>E No ClinGen
Ensembl
rs775363290
CA9283683
1060 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs775363290
CA9283684
1060 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs763852481
CA9283685
1061 S>G No ClinGen
ExAC
gnomAD
CA404647428
rs1295368533
1061 S>N No ClinGen
gnomAD
rs373249091
CA9283687
1065 M>I No ClinGen
ESP
ExAC
gnomAD
CA404647480
rs1215579161
1068 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750477702
CA9283689
1068 I>V No ClinGen
ExAC
gnomAD
CA9283690
rs756179341
1069 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA306015295
rs1054174019
1071 S>C No ClinGen
Ensembl
rs943224298
CA306015303
1072 E>D No ClinGen
Ensembl
CA9283692
rs138372644
1072 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755435506
CA9283693
1075 M>V No ClinGen
ExAC
gnomAD
rs980885534
CA306015314
1077 R>C No ClinGen
TOPMed
gnomAD
CA9283694
rs375962555
1077 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9283695
rs558015742
1078 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756872370
CA9283696
1078 R>H No ClinGen
ExAC
gnomAD
rs745396422
CA9283698
1080 T>P No ClinGen
ExAC
gnomAD
rs749189612
CA9283701
1083 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs775453054
COSM1225756
CA9283700
1083 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA404647628
rs1376818152
1089 P>H No ClinGen
gnomAD
CA404647625
rs1316098770
1089 P>S No ClinGen
TOPMed
gnomAD
CA404647638
rs748740998
1091 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA404647636
rs1238560162
1091 V>F No ClinGen
gnomAD
CA9283719
rs748740998
1091 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs989844213
CA306015407
1092 L>V No ClinGen
Ensembl
rs747918923
CA9283722
1094 R>C No ClinGen
ExAC
gnomAD
rs771879389
CA9283723
1094 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs771879389
CA404647651
1094 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1439037670
CA404647670
1097 Q>E No ClinGen
gnomAD
rs773347645
CA9283724
1097 Q>R No ClinGen
ExAC
gnomAD
rs1382064223
CA404647676
1098 H>N No ClinGen
gnomAD
CA404647692
rs1172056884
1100 E>K No ClinGen
gnomAD
CA9283726
rs766622972
1101 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA404647700
rs1236580013
1101 E>K No ClinGen
TOPMed
TCGA novel 1102 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404647718
rs1416318230
1103 H>Y No ClinGen
gnomAD
rs374200808
CA9283727
1105 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9283728
rs141001345
1105 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404647762
rs1599621066
1109 D>V No ClinGen
Ensembl
rs753195155
CA9283730
1109 D>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1110 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763273012
CA9283731
1110 N>S No ClinGen
ExAC
gnomAD
CA9283733
rs574039900
1112 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA9283734
rs755779360
1115 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs753381939
CA404647806
1116 A>G No ClinGen
ExAC
gnomAD
CA9283736
rs753381939
1116 A>V No ClinGen
ExAC
gnomAD
rs1198254698
CA404647821
1119 V>L No ClinGen
gnomAD
CA9283737
rs754435536
1120 Q>R No ClinGen
ExAC
gnomAD
rs561893074
CA9283738
1121 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1456304662
CA404647835
1121 D>Y No ClinGen
TOPMed
gnomAD
rs771831645
CA404647860
CA9283740
1124 M>I No ClinGen
ExAC
gnomAD
rs199950391
CA306015448
1124 M>L No ClinGen
1000Genomes
gnomAD
rs1241860332
CA404647877
1127 E>* No ClinGen
TOPMed
rs777608389
CA9283741
1128 D>N No ClinGen
ExAC
gnomAD
CA9283742
rs746740920
1129 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1269622775
CA404647902
1130 D>G No ClinGen
TOPMed
TCGA novel 1131 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771282789
CA404647906
1131 M>L No ClinGen
ExAC
gnomAD
CA9283743
rs771282789
1131 M>V No ClinGen
ExAC
gnomAD
TCGA novel 1132 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs550835219
CA9283744
1132 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA9283745
rs759707633
1133 P>S No ClinGen
ExAC
gnomAD
CA9283746
rs150206415
1136 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs904976166
CA306015479
1138 C>S No ClinGen
TOPMed
CA9283747
rs775898027
1139 E>V No ClinGen
ExAC
gnomAD
rs1209115050
CA404647971
1141 V>L No ClinGen
gnomAD
rs201269792
CA306015487
1143 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs201269792
CA9283749
1143 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA306015494
rs201105429
1144 H>Y No ClinGen
gnomAD
rs1172989901
CA404647995
1145 G>C No ClinGen
gnomAD
CA404647997
rs1373951064
1145 G>D No ClinGen
gnomAD
rs1172989901
CA404647996
1145 G>S No ClinGen
gnomAD
CA9283754
rs533266936
COSM992605
1148 V>M endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs1393515518
CA404648020
1149 T>I No ClinGen
gnomAD
rs546578699
CA9283755
1150 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs376255592
CA9283756
1150 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9283758
rs376892309
1152 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283759
rs566955025
1152 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404648036
rs566955025
1152 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9283760
rs746830706
1153 V>M No ClinGen
ExAC
gnomAD
CA404648050
rs1243756239
1154 Q>H No ClinGen
gnomAD
CA9283761
rs139041823
1157 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9283762
rs139041823
1157 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9283763
rs143041673
1157 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1712006
CA9283764
rs769827934
1158 R>C skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9283765
rs775623591
1158 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775623591
CA404648073
1158 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9283766
rs762876758
1159 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1224398252
CA404648080
1160 A>P No ClinGen
TOPMed
CA9283769
rs79625040
1161 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1344228817
CA404648094
1162 P>H No ClinGen
TOPMed

No associated diseases with O75182

5 regional properties for O75182

Type Name Position InterPro Accession
repeat Paired amphipathic helix 37 - 107 IPR003822-1
repeat Paired amphipathic helix 153 - 238 IPR003822-2
repeat Paired amphipathic helix 292 - 369 IPR003822-3
domain Histone deacetylase interacting domain 393 - 525 IPR013194
domain Sin3, C-terminal 775 - 1075 IPR031693

Functions

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

10 GO annotations of cellular component

Name Definition
autosome Any chromosome other than a sex chromosome.
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
histone deacetylase complex A protein complex that possesses histone deacetylase activity.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
Sin3 complex A multiprotein complex that functions broadly in eukaryotic organisms as a transcriptional repressor of protein-coding genes, through the gene-specific deacetylation of histones. Amongst its subunits, the Sin3 complex contains Sin3-like proteins, and a number of core proteins that are shared with the NuRD complex (including histone deacetylases and histone binding proteins). The Sin3 complex does not directly bind DNA itself, but is targeted to specific genes through protein-protein interactions with DNA-binding proteins.
X chromosome The sex chromosome present in both sexes of species in which the male is the heterogametic sex. Two copies of the X chromosome are present in each somatic cell of females and one copy is present in males.
XY body A structure found in a male mammalian spermatocyte containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery.
Y chromosome The sex chromosome present in males of species in which the male is the heterogametic sex; generally, the sex chromosome that pairs with the X chromosome in the heterogametic sex. The Y chromosome is absent from the cells of females and present in one copy in the somatic cells of males.

2 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

3 GO annotations of biological process

Name Definition
histone deacetylation The modification of histones by removal of acetyl groups.
negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q96ST3 SIN3A Paired amphipathic helix protein Sin3a Homo sapiens (Human) PR
Q60520 Sin3a Paired amphipathic helix protein Sin3a Mus musculus (Mouse) PR
Q62141 Sin3b Paired amphipathic helix protein Sin3b Mus musculus (Mouse) PR
Q9XIK6 SNL6 Paired amphipathic helix protein Sin3-like 6 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAHAGGGSGG SGAGGPAGRG LSGARWGRSG SAGHEKLPVH VEDALTYLDQ VKIRFGSDPA
70 80 90 100 110 120
TYNGFLEIMK EFKSQSIDTP GVIRRVSQLF HEHPDLIVGF NAFLPLGYRI DIPKNGKLNI
130 140 150 160 170 180
QSPLTSQENS HNHGDGAEDF KQQVPYKEDK PQVPLESDSV EFNNAISYVN KIKTRFLDHP
190 200 210 220 230 240
EIYRSFLEIL HTYQKEQLNT RGRPFRGMSE EEVFTEVANL FRGQEDLLSE FGQFLPEAKR
250 260 270 280 290 300
SLFTGNGPCE MHSVQKNEHD KTPEHSRKRS RPSLLRPVSA PAKKKMKLRG TKDLSIAAVG
310 320 330 340 350 360
KYGTLQEFSF FDKVRRVLKS QEVYENFLRC IALFNQELVS GSELLQLVSP FLGKFPELFA
370 380 390 400 410 420
QFKSFLGVKE LSFAPPMSDR SGDGISREID YASCKRIGSS YRALPKTYQQ PKCSGRTAIC
430 440 450 460 470 480
KELDHWTLLQ GSWTDDYCMS KFKNTCWIPG YSAGVLNDTW VSFPSWSEDS TFVSSKKTPY
490 500 510 520 530 540
EEQLHRCEDE RFELDVVLET NLATIRVLES VQKKLSRMAP EDQEKFRLDD SLGGTSEVIQ
550 560 570 580 590 600
RRAIYRIYGD KAPEIIESLK KNPVTAVPVV LKRLKAKEEE WREAQQGFNK IWREQYEKAY
610 620 630 640 650 660
LKSLDHQAVN FKQNDTKALR SKSLLNEIES VYDEHQEQHS EGRSAPSSEP HLIFVYEDRQ
670 680 690 700 710 720
ILEDAAALIS YYVKRQPAIQ KEDQGTIHQL LHQFVPSLFF SQQLDLGASE ESADEDRDSP
730 740 750 760 770 780
QGQTTDPSER KKPAPGPHSS PPEEKGAFGD APATEQPPLP PPAPHKPLDD VYSLFFANNN
790 800 810 820 830 840
WYFFLRLHQT LCSRLLKIYR QAQKQLLEYR TEKEREKLLC EGRREKGSDP AMELRLKQPS
850 860 870 880 890 900
EVELEEYYPA FLDMVRSLLE GSIDPTQYED TLREMFTIHA YVGFTMDKLV QNIARQLHHL
910 920 930 940 950 960
VSDDVCLKVV ELYLNEKKRG AAGGNLSSRC VRAARETSYQ WKAERCMADE NCFKVMFLQR
970 980 990 1000 1010 1020
KGQVIMTIEL LDTEEAQTED PVEVQHLARY VEQYVGTEGA SSSPTEGFLL KPVFLQRNLK
1030 1040 1050 1060 1070 1080
KFRRRWQSEQ ARALRGEARS SWKRLVGVES ACDVDCRFKL STHKMVFIVN SEDYMYRRGT
1090 1100 1110 1120 1130 1140
LCRAKQVQPL VLLRHHQHFE EWHSRWLEDN VTVEAASLVQ DWLMGEEDED MVPCKTLCET
1150 1160
VHVHGLPVTR YRVQYSRRPA SP