Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9Y3R5

Entry ID Method Resolution Chain Position Source
AF-Q9Y3R5-F1 Predicted AlphaFoldDB

1866 variants for Q9Y3R5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10015818
rs757493767
3 P>L No ClinGen
ExAC
gnomAD
rs370668387
CA10015819
4 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750506997
CA409891956
8 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA10015820
rs750506997
8 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs758330209
CA10015821
9 L>I No ClinGen
ExAC
gnomAD
rs780026740
CA10015822
10 N>H No ClinGen
ExAC
gnomAD
rs1242465778
CA409892033
11 D>V No ClinGen
TOPMed
gnomAD
rs980640071
CA320328107
12 Y>* No ClinGen
TOPMed
TCGA novel 14 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1349902608
CA409892134
15 R>K No ClinGen
gnomAD
CA320328111
rs1034407492
18 S>Y No ClinGen
TOPMed
CA10015824
rs139410617
22 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1285756369
CA409892306
22 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10015825
rs780876614
24 A>T No ClinGen
ExAC
gnomAD
CA409892376
rs1568993786
25 L>W No ClinGen
Ensembl
rs1480989560
CA409892489
31 S>L No ClinGen
TOPMed
gnomAD
rs1362514176
CA409892523
32 S>N No ClinGen
gnomAD
CA409892552
rs1354124142
34 W>R No ClinGen
TOPMed
CA409892573
rs772691916
35 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA10015831
rs772691916
35 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA10015829
rs748872533
35 A>T No ClinGen
ExAC
gnomAD
CA10015830
rs772691916
35 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA320328167
rs1055305129
36 D>G No ClinGen
gnomAD
CA10015833
rs764471242
36 D>H No ClinGen
ExAC
gnomAD
rs776874299
CA10015834
38 I>L No ClinGen
ExAC
gnomAD
rs146034004
CA409892756
45 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765512245
COSM3708039
CA10015836
45 N>S liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs146034004
CA10015835
45 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1249961213
CA409877597
48 L>F No ClinGen
gnomAD
CA409877611
rs1339182236
49 Q>* No ClinGen
TOPMed
gnomAD
CA409877612
rs1339182236
49 Q>E No ClinGen
TOPMed
gnomAD
rs751600011
CA10015860
49 Q>L No ClinGen
ExAC
gnomAD
rs751600011
CA409877614
49 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1240518469
CA409877627
50 S>N No ClinGen
TOPMed
gnomAD
CA10015861
rs573227511
51 N>D No ClinGen
ExAC
gnomAD
rs377183346
CA10015862
51 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 52 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10015864
rs756020652
56 L>S No ClinGen
ExAC
gnomAD
CA409877830
rs1484410311
59 R>K No ClinGen
TOPMed
gnomAD
CA320297664
rs938543899
60 R>Q No ClinGen
TOPMed
gnomAD
rs1372252726
CA409877850
60 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1259987273
CA409877882
61 L>P No ClinGen
TOPMed
rs1172580949
CA409877860
61 L>V No ClinGen
gnomAD
rs1403740988
CA409877899
62 L>R No ClinGen
gnomAD
CA409877937
rs1336813478
64 S>C No ClinGen
gnomAD
CA409878029
rs1380783697
67 L>S No ClinGen
gnomAD
rs1318661989
CA409878063
68 A>V No ClinGen
TOPMed
CA409878078
rs1310613290
69 Q>R No ClinGen
TOPMed
TCGA novel 69 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 82 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745437368
CA10015869
84 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA409878509
rs148652238
87 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1203653162
CA409878499
87 Y>C No ClinGen
gnomAD
rs1484298229
COSM1030483
CA409878510
88 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1484298229
CA409878515
COSM3841866
88 E>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs762268963
CA320297766
89 I>V No ClinGen
gnomAD
CA409878624
rs1261236510
92 K>N No ClinGen
TOPMed
gnomAD
rs781601044
CA10015871
93 I>S No ClinGen
ExAC
gnomAD
rs753510887
CA10015873
94 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1601404488
CA409878714
96 T>N No ClinGen
Ensembl
rs773593592
CA10015875
97 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1474582657
CA409878807
100 A>D No ClinGen
TOPMed
rs1388358235
CA409878796
100 A>T No ClinGen
gnomAD
rs141040361
CA10015876
102 D>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 102 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10015877
rs771059295
105 L>V No ClinGen
ExAC
gnomAD
rs764194916
CA10015902
107 S>R No ClinGen
ExAC
gnomAD
rs776555944
CA409879609
108 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs1418674186
CA409879617
109 G>A No ClinGen
TOPMed
CA409879612
rs1221943146
109 G>R No ClinGen
gnomAD
CA409879615
COSM319985
rs1221943146
109 G>W lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1569016294
CA409879640
111 F>L No ClinGen
Ensembl
rs1050403953
CA320299503
112 P>S No ClinGen
gnomAD
rs764915255
CA10015905
113 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10015907
rs758094859
115 A>T No ClinGen
ExAC
gnomAD
rs1484887007
CA409879692
117 A>T No ClinGen
TOPMed
CA409879702
rs1424910802
117 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA320299552
rs944654306
118 A>E No ClinGen
TOPMed
gnomAD
CA10015910
rs542433080
118 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs944654306
CA409879708
118 A>V No ClinGen
TOPMed
gnomAD
CA10015913
rs201491075
120 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746027069
CA10015915
121 V>L No ClinGen
ExAC
gnomAD
TCGA novel 122 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772436813
CA10015916
123 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA10015918
rs747145267
123 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs772436813
CA10015917
123 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA409879791
rs1601405572
124 V>A No ClinGen
Ensembl
CA10015920
rs776751796
124 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA409879801
rs1459048223
125 L>P No ClinGen
TOPMed
gnomAD
rs1459048223
CA409879802
125 L>R No ClinGen
TOPMed
gnomAD
CA10015923
rs764894734
127 T>N No ClinGen
ExAC
gnomAD
rs1601405589
CA409879828
127 T>P No ClinGen
Ensembl
CA10015924
rs773077505
128 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs762451256
CA10015926
CA409879873
129 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA409879878
rs147574672
130 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754534115
CA10015928
130 E>A No ClinGen
ExAC
gnomAD
rs147574672
CA10015927
130 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs968001015
CA320299674
131 K>N No ClinGen
gnomAD
CA409879903
rs1188707331
131 K>R No ClinGen
TOPMed
CA409879942
rs1401575404
133 F>V No ClinGen
gnomAD
CA409879986
rs1444538142
135 P>A No ClinGen
TOPMed
CA409880035
rs1382187232
137 Q>* No ClinGen
gnomAD
rs754260693
CA10015930
140 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA409880182
rs1286132532
143 S>G No ClinGen
gnomAD
CA10015931
rs757806323
144 L>Q No ClinGen
ExAC
gnomAD
CA10015933
rs746310122
145 Q>E No ClinGen
ExAC
gnomAD
rs758679723
CA409880238
145 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs559705741
CA320299749
146 A>D No ClinGen
gnomAD
rs747053271
CA10015936
148 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs747053271
CA409880294
148 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1474879689
CA409880324
149 V>A No ClinGen
gnomAD
CA409880315
rs1342086072
149 V>M No ClinGen
TOPMed
rs747974617
CA10015939
150 G>A No ClinGen
ExAC
gnomAD
rs769771725
CA10015940
153 P>A No ClinGen
ExAC
gnomAD
rs957488679
CA320299787
153 P>H No ClinGen
gnomAD
rs762797534
CA409880432
154 G>C No ClinGen
ExAC
gnomAD
rs762797534
CA10015942
154 G>S No ClinGen
ExAC
gnomAD
CA10015944
rs774034819
158 G>D No ClinGen
ExAC
gnomAD
CA409880506
rs774034819
158 G>V No ClinGen
ExAC
gnomAD
CA10015946
rs200319331
160 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10015945
rs200319331
160 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409880578
rs1465751081
163 D>A No ClinGen
TOPMed
rs149183598
CA409880582
163 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10015948
rs781367855
163 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA320299859
rs781367855
163 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1332095910
CA409880593
164 R>K No ClinGen
TOPMed
CA10015977
rs200685392
165 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1380122559
CA409882559
167 A>S No ClinGen
gnomAD
rs1601412720
CA409882585
168 L>V No ClinGen
Ensembl
CA409882606
rs1243694433
169 L>F No ClinGen
TOPMed
gnomAD
CA10015978
rs757201792
169 L>P No ClinGen
ExAC
gnomAD
CA409882668
rs1357546985
173 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1364315383
CA409882655
173 S>T No ClinGen
TOPMed
CA409882692
rs1269148472
174 L>R No ClinGen
Ensembl
CA10015981
rs771601066
176 V>G No ClinGen
ExAC
CA10015982
rs775247057
177 G>C No ClinGen
ExAC
gnomAD
TCGA novel 179 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409882876
rs1601412758
180 V>G No ClinGen
Ensembl
rs746670698
CA10015983
180 V>M No ClinGen
ExAC
gnomAD
rs372486945
CA10015984
183 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148319957
CA10015985
184 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374828474
CA10015986
185 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374828474
CA10015987
185 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10015989
rs759998080
186 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs774847237
CA320308548
186 W>G No ClinGen
ExAC
gnomAD
CA10015990
rs759998080
186 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA10015988
rs774847237
186 W>R No ClinGen
ExAC
gnomAD
rs752927253
CA10015991
187 G>V No ClinGen
ExAC
gnomAD
rs1391211587
CA409883115
188 S>G No ClinGen
TOPMed
rs142091518
CA10015992
RCV000950865
188 S>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA320308585
rs968394788
188 S>R No ClinGen
TOPMed
gnomAD
CA10015993
rs145634540
189 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753919420
CA10015994
190 L>P No ClinGen
ExAC
gnomAD
CA10015995
rs757181678
192 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs778871181
CA10015996
193 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10015998
rs758170362
195 I>T No ClinGen
ExAC
TOPMed
CA320308636
rs918323037
195 I>V No ClinGen
TOPMed
gnomAD
rs369824664
CA10015999
196 R>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 196 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016000
rs373279668
198 P>R No ClinGen
ESP
ExAC
gnomAD
CA10016001
rs768195451
199 A>V No ClinGen
ExAC
gnomAD
CA409883482
rs1425782719
200 S>A No ClinGen
gnomAD
rs1190747344
CA409883553
202 F>S No ClinGen
gnomAD
rs771546721
CA10016004
203 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1465066449
CA409883620
205 G>A No ClinGen
gnomAD
CA10016008
rs767876389
206 H>L No ClinGen
ExAC
gnomAD
rs760886199
CA10016010
212 P>L No ClinGen
ExAC
gnomAD
CA409883946
rs1367637801
212 P>S No ClinGen
TOPMed
rs1387444809 213 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1012077462
CA320308736
213 G>D No ClinGen
TOPMed
gnomAD
CA320308720
rs753901076
213 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs753901076
CA10016012
213 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA10016014
rs150581929
214 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016015
rs150581929
214 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016013
rs201917816
214 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758280074
CA10016016
215 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs779829524
CA10016017
216 Q>L No ClinGen
ExAC
gnomAD
rs1482558929
CA409884212
219 M>I No ClinGen
TOPMed
CA10016020
rs754641667
219 M>V No ClinGen
ExAC
CA10016021
rs781037359
220 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA409884277
rs1488473166
221 G>R No ClinGen
gnomAD
rs1197348516
CA409884320
222 T>S No ClinGen
TOPMed
rs201679787
CA10016022
223 N>D No ClinGen
1000Genomes
ExAC
gnomAD
rs200705051
CA10016023
223 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 224 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777451213
CA10016024
227 T>A No ClinGen
ExAC
gnomAD
rs371761215
CA10016025
227 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1294593719
CA409885826
228 V>A No ClinGen
gnomAD
CA10016047
rs747581348
228 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA409885883
rs1377619992
231 L>W No ClinGen
gnomAD
CA10016049
rs201532629
232 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776044800
CA10016050
232 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1601415239
CA409885938
234 S>A No ClinGen
Ensembl
CA10016051
rs770065344
234 S>C No ClinGen
ExAC
gnomAD
CA409885976
rs1320846852
235 L>P No ClinGen
TOPMed
gnomAD
CA10016052
rs773325560
235 L>V No ClinGen
ExAC
gnomAD
CA409886047
rs1456387904
238 S>L No ClinGen
gnomAD
rs996393404
CA320312028
239 N>K No ClinGen
TOPMed
CA409886099
rs1569023840
240 V>A No ClinGen
Ensembl
rs759571011
CA10016056
241 L>P No ClinGen
ExAC
gnomAD
CA409886107
rs1296361757
241 L>V No ClinGen
gnomAD
rs1267278057
CA409886131
242 V>A No ClinGen
TOPMed
TCGA novel 243 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016057
rs767366201
244 R>K No ClinGen
ExAC
gnomAD
CA409886222
rs1279014974
247 L>V No ClinGen
TOPMed
CA409886242
rs1179798460
248 E>A No ClinGen
gnomAD
CA10016058
rs752546271
249 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs755825870
CA10016059
250 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 251 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409886350
rs763712532
253 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA10016061
rs753367036
255 P>L No ClinGen
ExAC
gnomAD
rs368212998
CA10016093
262 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA320312515
rs149293687
263 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149293687
CA10016094
263 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1193407948
CA409887093
265 R>I No ClinGen
TOPMed
gnomAD
CA409887091
rs1193407948
265 R>T No ClinGen
TOPMed
gnomAD
CA409887166
rs1264443481
267 I>N No ClinGen
gnomAD
CA409887168
rs1264443481
267 I>T No ClinGen
gnomAD
CA409887181
rs1476710167
268 P>S No ClinGen
gnomAD
rs1601415592
CA409887190
269 L>V No ClinGen
Ensembl
CA10016095
rs760710321
270 L>F No ClinGen
ExAC
gnomAD
rs117132686
RCV000884651
CA10016097
272 S>Y No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA409887270
rs1569024199
273 D>N No ClinGen
Ensembl
CA10016098
rs761366016
274 I>V No ClinGen
ExAC
gnomAD
rs1473879273
CA409887346
275 V>A No ClinGen
TOPMed
CA320312534
rs199876454
275 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199876454
CA10016100
275 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376364814
CA10016101
COSM186648
276 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs372156556
CA10016102
276 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753156977
CA10016103
278 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753156977
CA409887404
278 L>V No ClinGen
ExAC
gnomAD
CA320312565
rs753924138
280 A>P No ClinGen
Ensembl
rs370749068
CA10016106
281 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754298902
CA409887525
CA10016107
283 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA409887661
rs1264414801
290 M>I No ClinGen
gnomAD
rs757408942
CA10016108
293 N>K No ClinGen
ExAC
gnomAD
rs779008854
CA320312581
293 N>S No ClinGen
TOPMed
gnomAD
rs779328781
CA10016109
294 R>G No ClinGen
ExAC
gnomAD
CA409887765
rs1246665125
296 L>R No ClinGen
gnomAD
CA320312589
rs748327942
297 Y>H No ClinGen
TOPMed
CA409887797
rs1569024322
298 A>V No ClinGen
Ensembl
rs748064738
CA10016133
302 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA320318239
rs926776048
303 S>L No ClinGen
gnomAD
CA409888611
rs1457342194
304 D>V No ClinGen
gnomAD
CA10016136
rs369344935
305 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA320318246
rs905913743
307 G>E No ClinGen
TOPMed
rs1601416970
CA409888686
307 G>R No ClinGen
Ensembl
rs139555293
CA10016137
308 N>S No ClinGen
ESP
ExAC
gnomAD
CA10016138
rs773725336
309 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs759135564
CA10016139
310 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1233625141
CA409888775
311 V>A No ClinGen
TOPMed
rs545711530
CA10016140
311 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA320318274
rs545711530
311 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1358219229
CA409888803
312 P>L No ClinGen
TOPMed
rs1422853739
CA409888894
316 I>M No ClinGen
gnomAD
CA409888885
rs1168396577
316 I>N No ClinGen
gnomAD
rs777157544
CA10016141
318 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA409888971
rs1395202555
320 Y>H No ClinGen
gnomAD
rs765629333
CA10016143
322 D>H No ClinGen
ExAC
gnomAD
CA409889016
rs765629333
322 D>N No ClinGen
ExAC
gnomAD
rs1356549414
CA409889031
322 D>V No ClinGen
TOPMed
gnomAD
CA409889050
rs1235566018
323 Q>R No ClinGen
TOPMed
gnomAD
rs1276806411
CA409889057
324 S>A No ClinGen
gnomAD
CA10016144
rs750882040
COSM1030485
324 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199791572
CA10016147
328 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1569025509
CA409889127
329 E>* No ClinGen
Ensembl
rs1414264989 329 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409889197
rs1200129913
332 S>A No ClinGen
gnomAD
CA10016148
rs755041429
333 K>E No ClinGen
ExAC
gnomAD
rs1486500166
CA409889214
333 K>R No ClinGen
gnomAD
rs781152220
CA10016149
334 D>Y No ClinGen
ExAC
gnomAD
CA10016165
rs140246092
341 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367977089
CA10016167
342 E>D No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA409889435
rs1434694497
342 E>K No ClinGen
TOPMed
rs1374286700
CA409889454
343 I>L No ClinGen
TOPMed
rs756035522
CA10016169
343 I>M No ClinGen
ExAC
gnomAD
CA409889458
rs1452866915
343 I>T No ClinGen
gnomAD
rs144222807
CA10016170
345 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1291090894
CA409889493
345 H>R No ClinGen
gnomAD
CA409889499
rs1569025714
346 Q>* No ClinGen
Ensembl
CA409889498
rs1569025714
346 Q>E No ClinGen
Ensembl
CA409889506
rs1245784960
346 Q>H No ClinGen
TOPMed
gnomAD
CA409889502
rs1366125036
346 Q>L No ClinGen
gnomAD
rs749051674
CA10016172
348 F>L No ClinGen
ExAC
gnomAD
rs151106455
CA10016174
353 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409889625
rs1308225296
354 E>A No ClinGen
gnomAD
CA409889620
rs1470385069
354 E>K No ClinGen
TOPMed
CA320318501
rs1010798936
355 E>K No ClinGen
TOPMed
gnomAD
CA10016175
rs745469256
356 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10016176
rs569769415
356 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs775050572
CA10016177
357 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA409889657
rs1488120917
COSM1534739
357 H>Y lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA409889691
rs1601417328
360 Y>S No ClinGen
Ensembl
CA320318539
rs558569206
362 K>E No ClinGen
1000Genomes
rs770393670
CA409889725
363 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs770393670
CA10016179
363 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10016180
rs773811175
365 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10016181
rs763573404
365 R>H No ClinGen
ExAC
gnomAD
CA10016183
rs1294520725
366 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA409889779
rs1396833629
368 I>T No ClinGen
gnomAD
rs774580935
CA10016185
368 I>V No ClinGen
ExAC
gnomAD
CA10016186
rs759803688
369 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs759803688
CA10016187
369 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA320318565
rs759803688
369 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA10016188
rs752756139
372 D>E No ClinGen
ExAC
gnomAD
CA409889827
rs1225195736
373 K>R No ClinGen
gnomAD
CA409889834
rs1356605863
374 P>S No ClinGen
TOPMed
rs760788425
CA10016189
376 I>V No ClinGen
ExAC
gnomAD
CA409891245
rs1288574764
377 G>E No ClinGen
TOPMed
gnomAD
CA409890174
rs1305122730
377 G>R No ClinGen
TOPMed
TCGA novel 377 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409891268
rs1485523811
378 P>L No ClinGen
gnomAD
CA10016205
rs775651361
381 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA10016206
rs760909311
383 N>S No ClinGen
ExAC
gnomAD
rs764104216
CA10016207
385 F>L No ClinGen
ExAC
gnomAD
CA409891492
rs1375084084
387 E>D No ClinGen
gnomAD
CA10016210
rs765134236
387 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 388 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569028822
CA409891512
389 I>V No ClinGen
Ensembl
COSM3693784
rs758088044
CA10016212
390 R>G large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA10016214
rs780012981
390 R>T No ClinGen
ExAC
gnomAD
rs1338315327
CA409891585
391 A>S No ClinGen
gnomAD
CA409891578
rs1338315327
391 A>T No ClinGen
gnomAD
CA409891606
rs1399383798
392 F>L No ClinGen
gnomAD
TCGA novel 394 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016215
rs751195206
395 Y>C No ClinGen
ExAC
gnomAD
CA10016217
rs780843095
398 D>E No ClinGen
ExAC
gnomAD
CA10016216
rs150245118
398 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409891747
rs150245118
398 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1487575189
CA409891936
404 L>F No ClinGen
TOPMed
gnomAD
rs1487575189
CA409891928
404 L>V No ClinGen
TOPMed
gnomAD
CA320322288
rs746422278
406 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10016221
rs746422278
406 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA409892069
COSM725214
rs775847530
409 T>A lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs775847530
CA10016223
409 T>S No ClinGen
ExAC
gnomAD
rs1189551746
CA409892094
410 Q>P No ClinGen
gnomAD
CA409892123
rs1471815502
411 S>G No ClinGen
TOPMed
gnomAD
rs1471815502
CA409892108
411 S>R No ClinGen
TOPMed
gnomAD
rs1394697806
CA409892144
412 G>R No ClinGen
gnomAD
CA10016224
rs747170278
414 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747170278
CA409892232
414 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA409892253
rs1569028938
416 I>L No ClinGen
Ensembl
rs1399926398
CA409892267
416 I>M No ClinGen
gnomAD
rs768922238
CA10016225
416 I>R No ClinGen
ExAC
gnomAD
TCGA novel 418 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409893556
rs1437536292
420 K>M No ClinGen
gnomAD
rs866075140
CA320326121
423 R>K No ClinGen
Ensembl
rs774268682
CA10016252
425 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1017066101
CA320326131
425 A>V No ClinGen
Ensembl
CA409893618
rs1569031153
426 S>P No ClinGen
Ensembl
rs759448039
CA10016254
426 S>Y No ClinGen
ExAC
rs767455893
CA10016255
428 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs752246408
CA10016256
429 V>I No ClinGen
ExAC
gnomAD
CA10016257
rs752246408
429 V>L No ClinGen
ExAC
gnomAD
rs1167997998
CA409893659
430 K>E No ClinGen
gnomAD
CA409893664
rs1395303580
430 K>R No ClinGen
gnomAD
CA10016258
rs764951278
431 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016260
rs774922629
432 V>L No ClinGen
ExAC
gnomAD
rs780577213
CA10016261
441 T>A No ClinGen
ExAC
gnomAD
rs1207194683
CA409893830
443 F>L No ClinGen
TOPMed
CA10016263
rs371233048
444 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA320326255
rs1012969368
448 M>V No ClinGen
TOPMed
gnomAD
CA320326270
rs1022979835
451 C>Y No ClinGen
TOPMed
rs748248615
CA409894232
454 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs182957792
CA10016264
454 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016266
rs542364079
456 F>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409894289
rs1204878431
456 F>L No ClinGen
TOPMed
gnomAD
rs542364079
CA409894308
456 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409895305
rs1453486705
458 P>Q No ClinGen
gnomAD
rs1388538761
CA409895297
458 P>S No ClinGen
gnomAD
CA409895308
CA409895307
rs1173384490
459 V>L No ClinGen
TOPMed
gnomAD
CA320328758
rs1056245510
461 Q>H No ClinGen
gnomAD
CA10016287
rs140670312
462 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs945086367
CA320328791
462 R>H No ClinGen
TOPMed
gnomAD
CA409895383
rs1382840262
463 Y>* No ClinGen
gnomAD
CA409895418
rs1233896245
465 V>A No ClinGen
gnomAD
CA10016290
rs371338959
CA409895410
465 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016291
rs371338959
465 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409895451
rs1349723859
466 R>S No ClinGen
gnomAD
rs775136760
CA10016292
466 R>T No ClinGen
ExAC
gnomAD
CA320328825
rs1047948153
467 N>D No ClinGen
TOPMed
CA10016293
rs760570178
467 N>I No ClinGen
ExAC
rs768365405
CA10016294
468 S>G No ClinGen
ExAC
gnomAD
rs1470051205
CA409895482
468 S>N No ClinGen
TOPMed
TCGA novel 468 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535902103
CA10016296
469 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409895531
rs1569032638
471 P>S No ClinGen
Ensembl
CA409895574
rs1364265297
472 P>R No ClinGen
TOPMed
CA10016297
rs374472573
472 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016298
RCV000950866
rs138343054
473 P>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1193838167
CA409895577
473 P>R No ClinGen
gnomAD
rs138343054
CA10016300
473 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138343054
CA10016299
473 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1455803822
CA409895585
474 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 474 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016303
rs199987084
474 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 474 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779131422
CA10016306
475 V>A No ClinGen
ExAC
gnomAD
rs538538998
CA10016305
475 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182321260
CA10016307
476 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016309
rs143255868
477 E>K No ClinGen
ESP
ExAC
gnomAD
rs905572702
CA320328908
478 L>P No ClinGen
TOPMed
gnomAD
CA320328909
rs1002566945
479 C>S No ClinGen
TOPMed
gnomAD
rs750339936
CA10016311
COSM1713966
480 A>T Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 483 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016313
rs747793961
484 F>L No ClinGen
ExAC
gnomAD
CA409895874
rs1452882458
485 L>P No ClinGen
TOPMed
CA320328956
rs1035428487
487 D>E No ClinGen
TOPMed
CA10016314
rs769492617
487 D>G No ClinGen
ExAC
gnomAD
rs368171607
CA10016315
489 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1246314460
CA409897044
494 Y>C No ClinGen
gnomAD
CA10016337
rs764759205
494 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA10016338
rs777116301
495 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs762310943
CA10016339
497 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA409897125
rs1415363409
499 T>I No ClinGen
gnomAD
CA409897134
rs1476476128
500 Q>R No ClinGen
TOPMed
CA409897151
rs1601427919
501 Y>C No ClinGen
Ensembl
CA10016344
rs766472488
505 V>M No ClinGen
ExAC
gnomAD
CA10016347
rs551407018
507 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA10016346
rs551407018
507 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA409897243
rs141386474
509 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016350
rs777559924
510 V>M No ClinGen
ExAC
gnomAD
CA409897280
rs1474436562
512 P>A No ClinGen
gnomAD
CA10016351
rs748905664
515 E>K No ClinGen
ExAC
gnomAD
CA409897357
rs1214646992
517 M>L No ClinGen
TOPMed
CA409897360
rs1374580287
517 M>T No ClinGen
gnomAD
CA10016353
rs778476083
519 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10016354
rs745422738
521 S>G No ClinGen
ExAC
gnomAD
CA320332629
rs982717586
521 S>R No ClinGen
Ensembl
rs1363584977
CA409897475
524 E>K No ClinGen
TOPMed
rs769258737
CA10016355
525 L>V No ClinGen
ExAC
gnomAD
rs777240649
CA10016356
526 T>M No ClinGen
ExAC
gnomAD
rs909775990
CA320332734
530 K>R No ClinGen
TOPMed
gnomAD
rs372560441
CA10016358
531 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763223486
CA10016360
532 C>S No ClinGen
ExAC
gnomAD
rs766558644
CA10016361
535 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1317936051
CA409897747
537 S>T No ClinGen
gnomAD
rs751625911
CA10016362
538 K>E No ClinGen
ExAC
gnomAD
CA409897778
rs1363860464
539 V>I No ClinGen
gnomAD
CA409897838
rs1242815166
541 M>I No ClinGen
TOPMed
gnomAD
CA10016366
rs374820310
545 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs915713281
CA320332851
547 D>A No ClinGen
TOPMed
rs756916041
CA320332860
547 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs915713281
CA320332858
547 D>G No ClinGen
TOPMed
CA10016369
rs147158486
547 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778473271
CA10016371
548 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA409897982
rs1262986361
551 T>P No ClinGen
gnomAD
rs771648647
CA10016373
552 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs771648647
CA320332874
552 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10016375
rs149661750
553 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409898016
rs1569034895
554 T>S No ClinGen
Ensembl
rs183791804
CA10016376
COSM1030488
555 S>L endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA320338890
rs145485914
558 V>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145485914
CA10016397
558 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778101081
CA10016396
558 V>I No ClinGen
ExAC
gnomAD
CA320338903
rs751038454
560 G>R No ClinGen
Ensembl
rs143088335
CA10016399
562 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1030489
rs1253886932
CA409898821
563 G>S endometrium Variant assessed as Somatic; 0.0004161 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 564 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409898841
rs1474220911
565 I>M No ClinGen
gnomAD
CA10016400
rs746087002
568 E>K No ClinGen
ExAC
gnomAD
TCGA novel 570 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016403
rs775529085
571 A>S No ClinGen
ExAC
gnomAD
CA10016402
rs775529085
571 A>T No ClinGen
ExAC
gnomAD
rs1165733798
CA409898917
573 I>T No ClinGen
gnomAD
CA10016405
rs776385915
575 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA409898937
rs1309081573
575 G>V No ClinGen
gnomAD
CA320338996
rs980518322
576 D>G No ClinGen
Ensembl
CA10016407
rs764935139
577 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1294836089
CA409898981
578 D>V No ClinGen
gnomAD
CA10016409
rs140649794
578 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144418659
CA10016410
579 A>V No ClinGen
ESP
ExAC
TOPMed
rs146572771
CA10016411
580 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs574642618
CA320339058
583 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs574642618
CA10016416
583 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757851386
CA10016415
583 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA409899076
rs1282984029
586 S>C No ClinGen
gnomAD
CA409899108
rs1484583655
589 S>G No ClinGen
gnomAD
rs1210006122
CA409899114
589 S>T No ClinGen
gnomAD
rs1601430509
CA409899135
591 I>V No ClinGen
Ensembl
rs1424972143
CA409899146
592 G>R No ClinGen
gnomAD
CA10016419
rs775653676
593 L>P No ClinGen
ExAC
gnomAD
rs747256366
CA10016420
594 S>G No ClinGen
ExAC
gnomAD
CA10016421
rs768563632
595 A>T No ClinGen
ExAC
gnomAD
CA409899190
rs1176047455
595 A>V No ClinGen
TOPMed
rs150192185
CA10016422
596 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409899214
rs1316898570
598 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10016425
rs773107187
598 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409899236
rs1471378085
601 S>C No ClinGen
TOPMed
rs1326055747
CA409899249
603 H>P No ClinGen
TOPMed
gnomAD
CA409899250
rs1326055747
603 H>R No ClinGen
TOPMed
gnomAD
CA409899263
rs1229357616
605 R>T No ClinGen
gnomAD
CA320339130
rs945813677
606 V>L No ClinGen
TOPMed
rs751197325
CA10016428
608 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA10016429
rs751197325
608 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10016430
COSM1236011
rs148132825
608 R>Q haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs752310098
CA10016431
COSM3736285
609 V>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA409899290
rs1260482612
610 S>C No ClinGen
gnomAD
CA409899286
rs1202832137
610 S>T No ClinGen
gnomAD
rs374748152
CA10016432
COSM1713967
613 R>K skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs138745871
CA10016435
614 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779439751
CA10016433
614 D>G No ClinGen
ExAC
gnomAD
CA10016437
rs367565323
615 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs936173872
CA320339230
615 D>N No ClinGen
TOPMed
gnomAD
rs768977976
CA10016438
616 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA409899360
rs1225818306
617 W>S No ClinGen
TOPMed
rs781105615
CA10016440
620 G>D No ClinGen
ExAC
gnomAD
CA409899404
rs1157367666
620 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1369136350
CA409899417
621 G>E No ClinGen
gnomAD
CA10016442
rs769794967
621 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773234183
CA10016443
623 M>T No ClinGen
ExAC
gnomAD
CA409899490
rs1313850686
625 R>S No ClinGen
gnomAD
CA10016444
rs762995201
626 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 628 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 630 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016446
rs774356544
631 Q>* No ClinGen
ExAC
gnomAD
rs1250752330
CA409899578
631 Q>R No ClinGen
gnomAD
rs370342108
CA10016451
635 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370342108
CA10016450
635 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750874265
CA10016452
636 N>D No ClinGen
ExAC
gnomAD
rs758914156
CA10016453
640 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs780380821
CA10016454
640 K>R No ClinGen
ExAC
gnomAD
rs1027560537
CA320339405
642 I>M No ClinGen
Ensembl
CA10016457
rs752001914
645 V>I No ClinGen
ExAC
gnomAD
CA409899773
rs1369413520
647 L>P No ClinGen
gnomAD
CA320339472
rs952007211
647 L>V No ClinGen
gnomAD
RCV000960317
CA10016458
rs77696046
649 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA409899811
rs1305579656
651 G>A No ClinGen
Ensembl
rs748340455
CA10016460
652 E>G No ClinGen
ExAC
gnomAD
CA10016462
rs778003237
653 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA409899839
rs1314742145
654 S>G No ClinGen
TOPMed
CA409899842
rs1229440486
654 S>N No ClinGen
TOPMed
gnomAD
rs1601430750
CA409899864
656 S>P No ClinGen
Ensembl
rs375952900
CA10016464
657 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774266554
CA10016465
659 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA409899898
rs774266554
659 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10016467
rs368892066
661 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409899936
rs1320035316
663 R>G No ClinGen
gnomAD
CA409899955
rs1184411818
664 D>G No ClinGen
gnomAD
CA320339555
rs371922970
665 R>T No ClinGen
ESP
TOPMed
CA409899996
rs1415704895
668 T>A No ClinGen
gnomAD
rs143591918
CA10016468
668 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409900022
rs1351847669
670 S>N No ClinGen
gnomAD
rs1601430798
CA409900040
672 A>P No ClinGen
Ensembl
rs1460263165
CA409900061
674 N>S No ClinGen
TOPMed
gnomAD
rs1484192942
CA409900085
676 S>F No ClinGen
TOPMed
gnomAD
CA409900100
rs1371051733
677 S>R No ClinGen
gnomAD
CA409900102
rs1411635532
678 R>G No ClinGen
gnomAD
CA10016471
rs147200856
678 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016472
rs147200856
678 R>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA320339606
rs925748087
679 K>E No ClinGen
TOPMed
gnomAD
rs1354200964
CA409900117
679 K>R No ClinGen
gnomAD
TCGA novel 681 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 684 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA320339617
rs372584558
684 P>R No ClinGen
ESP
TOPMed
gnomAD
CA409900165
rs1274433779
685 K>E No ClinGen
TOPMed
gnomAD
CA409900170
rs1410899120
685 K>M No ClinGen
gnomAD
CA10016476
rs755319553
686 P>R No ClinGen
ExAC
rs926225796
CA320339664
687 I>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409900187
rs1207870360
688 T>P No ClinGen
gnomAD
rs1569037138
CA409900222
690 P>L No ClinGen
Ensembl
CA10016478
rs752896540
690 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs907903364
CA320339706
693 K>E No ClinGen
TOPMed
gnomAD
CA409900285
rs752465499
695 M>L No ClinGen
ExAC
gnomAD
rs777988720
CA10016481
695 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs777988720
CA10016480
695 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA10016479
rs752465499
695 M>V No ClinGen
ExAC
gnomAD
rs375358385
CA10016482
696 L>P No ClinGen
ESP
ExAC
gnomAD
CA409900302
rs1367131673
697 S>P No ClinGen
TOPMed
CA409900321
rs1431409222
698 D>E No ClinGen
gnomAD
rs745818881
CA10016484
699 L>F No ClinGen
ExAC
gnomAD
CA409900338
rs1448119955
700 F>C No ClinGen
TOPMed
gnomAD
rs1374840736
CA409900330
700 F>V No ClinGen
gnomAD
CA409900367
rs1461378550
702 A>V No ClinGen
TOPMed
CA409900369
rs1304120835
703 R>* No ClinGen
gnomAD
rs370193766
CA10016485
703 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145155731
CA10016487
705 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016488
rs768343372
707 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA320339827
rs373016427
708 K>N No ClinGen
Ensembl
CA10016489
rs558674662
709 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs377533891
CA320339847
709 T>P No ClinGen
Ensembl
rs370996759
CA409900419
710 K>E No ClinGen
TOPMed
gnomAD
rs370996759
CA320339861
710 K>Q No ClinGen
TOPMed
gnomAD
rs570775291
CA10016490
711 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA320339903
rs200778100
712 S>* No ClinGen
1000Genomes
TOPMed
CA409900494
rs1569037245
715 P>R No ClinGen
Ensembl
rs753061957
CA10016495
716 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA10016498
rs754144742
717 S>P No ClinGen
ExAC
gnomAD
rs112867880
CA320339969
718 S>A No ClinGen
TOPMed
rs757367283
CA10016499
718 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409900967
rs1347030605
719 P>S No ClinGen
TOPMed
rs146384138
CA10016502
721 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016501
rs745756045
721 S>T No ClinGen
ExAC
gnomAD
COSM1236012
CA409901042
rs1178169408
723 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA409901057
rs1342889046
724 R>G No ClinGen
gnomAD
CA10016503
rs779872645
725 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA409901095
rs61750836
726 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016506
CA10016505
rs768468115
727 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10016507
rs201566270
728 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377415890
CA10016508
731 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016510
rs374945304
733 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1188603097
CA409901214
734 K>N No ClinGen
gnomAD
CA10016511
rs772505301
736 V>L No ClinGen
ExAC
gnomAD
CA10016513
rs775893174
739 L>R No ClinGen
ExAC
rs1461286701
CA409901309
739 L>V No ClinGen
TOPMed
rs1601431092
CA409901342
742 S>P No ClinGen
Ensembl
CA10016516
rs754058749
743 R>G No ClinGen
ExAC
gnomAD
CA409901358
rs1466455483
743 R>K No ClinGen
gnomAD
rs762133091
CA10016517
745 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10016518
rs749264993
746 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs749264993
CA10016519
746 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1204439
rs1192782211
CA409901432
746 R>H Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs368603051
CA10016521
747 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371619671
CA10016522
748 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016524
rs768576763
752 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs944842983
CA320340212
753 A>G No ClinGen
Ensembl
CA409901544
rs575242531
753 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs575242531
CA10016526
753 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409901573
rs1277112603
755 H>N No ClinGen
gnomAD
CA10016528
rs748790139
755 H>R No ClinGen
ExAC
gnomAD
rs1365869976
CA409901645
760 C>R No ClinGen
TOPMed
CA10016529
rs770507794
762 T>A No ClinGen
ExAC
gnomAD
TCGA novel 763 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409901678
rs1268904246
763 F>L No ClinGen
gnomAD
COSM1413983
rs769078821
CA10016532
765 V>A Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016531
rs761280703
765 V>I No ClinGen
ExAC
gnomAD
rs777207825
CA10016533
766 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs777207825
CA409901717
766 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA409901723
rs1203748755
767 L>P No ClinGen
TOPMed
rs762890737
CA409901731
769 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762890737
CA10016537
769 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 771 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409901757
rs376971725
772 T>P No ClinGen
ESP
TOPMed
gnomAD
CA320340306
rs376971725
772 T>S No ClinGen
ESP
TOPMed
gnomAD
rs751430667
CA10016539
773 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754974277
CA10016540
774 Q>* No ClinGen
ExAC
gnomAD
rs752537336
CA10016542
776 C>R No ClinGen
ExAC
gnomAD
rs1601431251
CA409901810
776 C>Y No ClinGen
Ensembl
rs777250678
CA10016544
778 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA10016545
COSM1204443
rs748993814
778 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA10016547
rs141956049
RCV000971136
782 L>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs776367669
CA320340352
783 P>L No ClinGen
Ensembl
rs1449228521
CA409902116
784 G>A No ClinGen
gnomAD
rs759572579
CA10016575
785 A>S No ClinGen
ExAC
gnomAD
rs373937738
CA10016576
786 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775235145
CA10016577
787 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA10016578
rs760668299
788 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs763796149
CA10016579
789 S>G No ClinGen
ExAC
gnomAD
CA320342171
rs1047015546
792 S>P No ClinGen
Ensembl
rs1247224583
CA409902399
799 T>I No ClinGen
TOPMed
CA10016582
rs765026626
800 I>V No ClinGen
ExAC
CA409902431
rs1338784971
801 C>R No ClinGen
TOPMed
CA409902439
rs1277949973
801 C>Y No ClinGen
TOPMed
TCGA novel 805 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1329159750
CA409902507
806 D>G No ClinGen
TOPMed
gnomAD
rs757919845
CA10016584
807 C>R No ClinGen
ExAC
gnomAD
CA409902526
rs1346438431
808 Y>* No ClinGen
gnomAD
CA409902520
rs1256523218
808 Y>H No ClinGen
TOPMed
gnomAD
rs780193377
CA320342203
812 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs780193377
CA10016586
812 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs756701123
CA10016587
814 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10016591
rs779059392
821 I>K No ClinGen
ExAC
gnomAD
CA10016593
rs115067274
825 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA320342265
rs963966998
826 S>F No ClinGen
Ensembl
rs775709171
CA409902650
828 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs775709171
CA10016594
828 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016596
rs768691750
829 L>F No ClinGen
ExAC
gnomAD
CA320342296
rs200016754
831 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371268976
CA10016598
831 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016597
rs200016754
831 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409902670
rs1267165196
832 E>G No ClinGen
gnomAD
rs976672288
CA320342334
833 D>N No ClinGen
Ensembl
CA320342366
rs1029935193
834 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs750027266
CA10016600
835 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA409902691
rs1277730403
835 M>T No ClinGen
TOPMed
CA10016599
rs765134932
835 M>V No ClinGen
ExAC
gnomAD
rs149162102
CA10016601
837 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA320342408
rs187475888
837 R>H No ClinGen
1000Genomes
gnomAD
CA10016602
rs142303619
838 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1263316118
CA409902715
839 K>E No ClinGen
gnomAD
CA409902725
rs1332225731
840 S>I No ClinGen
TOPMed
CA10016603
rs751128648
840 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1209676004
CA409902734
841 S>F No ClinGen
gnomAD
TCGA novel 843 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409902756
rs756546014
CA409902755
844 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs750520568 847 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 847 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411282266
CA409902920
848 G>V No ClinGen
gnomAD
rs750520568 848 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10016607
rs575886472
852 M>L No ClinGen
1000Genomes
ExAC
gnomAD
CA409902957
rs575886472
852 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1158041587
CA409902972
853 V>L No ClinGen
TOPMed
gnomAD
rs1391568286
CA409902984
854 T>A No ClinGen
gnomAD
rs202229502
CA10016609
854 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1421356500
CA409902993
855 V>I No ClinGen
TOPMed
CA10016611
rs202127532
858 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016612
rs779979065
860 P>S No ClinGen
ExAC
gnomAD
rs991124271
CA320342493
861 G>V No ClinGen
TOPMed
rs768653445
CA10016614
863 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs573434141
CA320342505
865 V>I No ClinGen
1000Genomes
CA409903090
rs1310115386
866 I>L No ClinGen
gnomAD
rs776569823
CA10016615
873 Y>C No ClinGen
ExAC
gnomAD
CA409903190
rs1266356114
874 Q>* No ClinGen
gnomAD
CA10016644
rs762289200
875 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA320346392
rs1033260604
876 V>M No ClinGen
Ensembl
CA409903763
rs1362670864
877 A>G No ClinGen
gnomAD
rs1304210938
CA409903759
877 A>T No ClinGen
gnomAD
CA409903764
rs1362670864
877 A>V No ClinGen
gnomAD
CA10016646
rs140431407
878 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140431407
COSM1534736
CA10016645
878 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA320346418
rs200643743
879 V>M No ClinGen
TOPMed
gnomAD
CA320346428
rs763124210
881 W>* No ClinGen
Ensembl
CA409903795
rs1482782979
882 N>K No ClinGen
TOPMed
rs751797793
CA10016649
888 T>N No ClinGen
ExAC
gnomAD
CA409903838
rs755210078
889 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10016651
rs375875949
889 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1030493
CA10016650
rs755210078
889 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1287022462
CA409903869
893 V>G No ClinGen
TOPMed
CA10016652
rs748275980
893 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA409903873
rs1248371308
894 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1476274855
CA409903881
894 T>I No ClinGen
gnomAD
rs989808277
CA320346453
896 V>E No ClinGen
TOPMed
rs777803061
CA10016654
896 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1385966527
CA409903922
897 E>D No ClinGen
gnomAD
CA409903930
rs1357211548
898 L>S No ClinGen
TOPMed
CA10016656
rs200386903
899 F>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016657
rs774081418
900 Y>C No ClinGen
ExAC
gnomAD
CA10016659
rs771674244
901 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745522861
CA10016658
901 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10016660
rs369344650
902 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016661
rs760142446
903 H>R No ClinGen
ExAC
rs768181600
CA10016662
905 L>V No ClinGen
ExAC
gnomAD
CA10016664
rs761634207
906 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA10016663
rs773638570
906 A>T No ClinGen
ExAC
gnomAD
rs761634207
CA320346509
906 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10016665
rs199835846
907 P>L No ClinGen
1000Genomes
ExAC
gnomAD
COSM119960
CA10016666
rs541281990
908 T>M ovary Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs984715380
CA320346573
909 A>D No ClinGen
Ensembl
CA10016669
rs373201297
910 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016670
rs199728378
910 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778005174
CA10016671
911 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 913 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757201310
CA10016673
913 E>K No ClinGen
ExAC
gnomAD
rs745692306
CA10016675
914 D>N No ClinGen
ExAC
gnomAD
CA10016676
rs771888566
915 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs779637692
CA10016677
918 H>R No ClinGen
ExAC
gnomAD
rs1376451713
CA409904283
921 L>P No ClinGen
TOPMed
CA409904307
rs1305496419
923 P>S No ClinGen
gnomAD
rs370218700
CA320346634
CA409904337
924 D>E No ClinGen
ESP
TOPMed
gnomAD
rs894548823
CA320346628
924 D>N No ClinGen
TOPMed
rs772551017
CA10016702
926 G>E No ClinGen
ExAC
gnomAD
rs989258993
CA320347597
927 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776063819
CA10016703
927 T>I No ClinGen
ExAC
gnomAD
rs138188793
CA10016705
928 R>K No ClinGen
ESP
ExAC
TOPMed
rs761756308
CA10016707
930 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1398645680
CA409904548
931 A>T No ClinGen
gnomAD
CA320347681
rs914642967
932 L>Q No ClinGen
TOPMed
CA10016708
rs553428555
932 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs142300961
CA10016710
937 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145943200
CA10016711
938 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1454348046
CA409904636
938 I>T No ClinGen
gnomAD
CA409904655
rs1601437904
939 W>C No ClinGen
Ensembl
CA409904645
rs1364215769
939 W>G No ClinGen
gnomAD
CA10016712
rs751408065
940 H>R No ClinGen
ExAC
gnomAD
rs754791666
CA10016714
942 T>I No ClinGen
ExAC
rs780670109
CA10016715
948 S>N No ClinGen
ExAC
gnomAD
CA10016716
rs138787675
949 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138787675
CA10016717
949 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409904778
rs1199456357
950 V>I No ClinGen
gnomAD
rs777399386
CA10016718
951 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA409904837
rs1206463236
954 N>I No ClinGen
TOPMed
gnomAD
CA409904832
rs1462415786
954 N>Y No ClinGen
gnomAD
CA10016719
rs746372746
955 R>C No ClinGen
ExAC
gnomAD
rs772745012
CA10016720
955 R>L No ClinGen
ExAC
gnomAD
rs1477078403
CA409904861
956 S>C No ClinGen
TOPMed
gnomAD
rs1477078403
CA409904863
956 S>F No ClinGen
TOPMed
gnomAD
rs1375344164
CA409904855
956 S>P No ClinGen
gnomAD
TCGA novel 961 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs946496422
CA320348645
962 F>L No ClinGen
TOPMed
TCGA novel 964 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758367915
CA409905002
964 V>L No ClinGen
gnomAD
rs758367915
CA320348648
964 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409905053
rs1237960529
968 L>V No ClinGen
TOPMed
rs770107264
CA10016743
971 T>M No ClinGen
ExAC
gnomAD
CA409905128
rs1161600638
973 G>S No ClinGen
gnomAD
rs1217540173
CA409905150
974 A>V No ClinGen
TOPMed
rs1366436103
CA409905155
975 I>V No ClinGen
gnomAD
CA10016746
rs372733663
976 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1601438924
CA409905176
977 A>T No ClinGen
Ensembl
rs377163141
CA10016747
977 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1373450502
CA409905212
979 A>D No ClinGen
gnomAD
CA320348686
rs559929390
979 A>S No ClinGen
1000Genomes
gnomAD
rs559929390
CA409905205
979 A>T No ClinGen
1000Genomes
gnomAD
TCGA novel 981 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 981 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767212028
CA10016749
981 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs187150080
CA10016751
985 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016752
rs763751996
985 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA409905316
rs763751996
985 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10016750
rs187150080
985 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016753
rs753573977
986 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10016757
rs755553332
988 S>F No ClinGen
ExAC
gnomAD
CA10016756
rs752094619
988 S>P No ClinGen
ExAC
CA10016758
rs781392529
989 L>F No ClinGen
ExAC
gnomAD
CA10016759
rs748499096
990 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 990 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016760
rs770088392
991 D>Y No ClinGen
ExAC
rs749526282
CA10016762
992 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs770985259
CA10016763
993 A>V No ClinGen
ExAC
gnomAD
rs560805511
CA320348731
994 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
rs774481718
CA10016764
994 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10016766
rs549800328
999 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409905565
rs1378044886
1001 L>V No ClinGen
gnomAD
rs571218550
CA320348752
1002 L>P No ClinGen
1000Genomes
rs1317837109
CA409905581
1002 L>V No ClinGen
TOPMed
rs1316109463
CA409905625
1005 Q>L No ClinGen
gnomAD
CA409905644
rs1385477946
1006 P>S No ClinGen
gnomAD
rs998574739
CA320348754
1008 T>A No ClinGen
TOPMed
TCGA novel 1008 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226755727
CA409905694
1010 R>* No ClinGen
gnomAD
TCGA novel 1010 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409905731
rs763982531
1011 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs763982531
CA10016770
1011 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1461074664
CA409905759
1013 I>F No ClinGen
gnomAD
CA409905748
rs1461074664
1013 I>L No ClinGen
gnomAD
CA320348784
rs1028778384
1014 H>R No ClinGen
TOPMed
gnomAD
rs1244699013
CA409905778
1014 H>Y No ClinGen
gnomAD
CA10016772
rs761611948
1015 C>R No ClinGen
ExAC
gnomAD
rs1420208679
CA409905821
1016 L>I No ClinGen
gnomAD
rs1005656517
CA320348809
1017 K>E No ClinGen
TOPMed
CA409905866
rs1422807211
1018 Q>R No ClinGen
TOPMed
rs376546092
CA320348813
1019 E>G No ClinGen
ESP
CA10016774
rs764830861
1020 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA10016775
RCV000958115
rs7278340
1021 S>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_034688
CA10016776
rs7278340
1021 S>W No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs546032271 1022 A>= Variant assessed as Somatic; 0.0001969 impact. [NCI-TCGA] No NCI-TCGA
CA320348848
rs753151751
1023 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA10016779
rs753151751
1023 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1158814845
CA409906396
1024 D>N No ClinGen
gnomAD
rs746958221
CA10016807
1027 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs746958221
CA320350991
1027 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10016808
rs768750167
1027 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10016810
rs776735459
1032 K>R No ClinGen
ExAC
gnomAD
rs780927225
CA320351015
1033 K>R No ClinGen
Ensembl
COSM1250596
rs1425342834
CA409906545
1034 T>I oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
CA320351024
rs896881211
1037 R>G No ClinGen
TOPMed
gnomAD
CA409906600
rs1441664153
1039 A>S No ClinGen
gnomAD
rs762571576
CA10016815
1041 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1030495
rs762571576
CA10016814
1041 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016818
rs764535651
1044 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10016819
rs376539833
1049 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1306568680
CA409906740
1049 G>V No ClinGen
TOPMed
CA409906747
rs1316418324
1051 E>K No ClinGen
gnomAD
CA10016820
rs757549275
1051 E>V No ClinGen
ExAC
gnomAD
CA10016821
rs765531817
1052 E>D No ClinGen
ExAC
gnomAD
rs1436722948
CA409906754
1052 E>K No ClinGen
gnomAD
CA10016823
rs201451101
1053 H>P No ClinGen
ExAC
gnomAD
CA409906763
rs201451101
1053 H>R No ClinGen
ExAC
gnomAD
CA10016822
rs750641679
1053 H>Y No ClinGen
ExAC
gnomAD
CA409906767
rs780147206
1054 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs369027784
CA10016825
1060 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409906811
rs369027784
1060 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016826
rs755144906
1061 T>A No ClinGen
ExAC
gnomAD
CA409906826
rs1601443849
1063 D>A No ClinGen
Ensembl
CA409906831
rs1409519781
1064 R>C No ClinGen
TOPMed
gnomAD
rs1409519781
CA409906832
1064 R>G No ClinGen
TOPMed
gnomAD
rs781211720
CA10016827
1064 R>H No ClinGen
ExAC
gnomAD
CA409906833
rs1409519781
1064 R>S No ClinGen
TOPMed
gnomAD
rs748112344
CA10016828
1067 I>V No ClinGen
ExAC
gnomAD
CA409906862
rs1377894797
1068 W>* No ClinGen
Ensembl
CA10016830
rs777497496
1070 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748940406
CA10016831
1072 E>* No ClinGen
ExAC
gnomAD
rs770539922
CA10016832
1072 E>G No ClinGen
ExAC
rs748940406
CA409906885
1072 E>Q No ClinGen
ExAC
gnomAD
CA320351092
rs543294572
1074 E>K No ClinGen
Ensembl
rs774074617
CA10016833
1075 P>R No ClinGen
ExAC
gnomAD
CA409906910
rs201829630
1076 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016835
rs201829630
1076 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409906918
rs1195943322
1077 K>* No ClinGen
TOPMed
gnomAD
CA10016838
rs144551122
1079 P>L Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144551122
CA10016837
1079 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200894624
CA10016836
1079 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409906939
rs1445632794
1080 L>P No ClinGen
gnomAD
rs766473651
CA10016841
COSM1413986
1081 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016842
rs751839608
1081 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM579251
rs752679000
CA10016845
1083 E>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA409906963
rs1347154225
1085 S>G No ClinGen
TOPMed
rs146155717
CA10016846
1086 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777602234
CA10016847
1087 E>K No ClinGen
ExAC
gnomAD
CA409907004
rs1454425769
1091 Y>H No ClinGen
gnomAD
CA409907015
rs1316126562
1092 Y>C No ClinGen
gnomAD
CA320351141
rs185515268
1093 V>M No ClinGen
1000Genomes
TOPMed
CA409907036
rs1299930942
1095 L>P No ClinGen
TOPMed
CA409907050
rs1222463107
1097 D>E No ClinGen
gnomAD
rs770790010
CA10016849
1097 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1405549740
CA409907051
1098 R>G No ClinGen
TOPMed
CA10016850
rs778470689
1098 R>S No ClinGen
ExAC
gnomAD
CA320284400
rs962450665
1099 T>M No ClinGen
TOPMed
gnomAD
rs1194553635
CA409874922
1101 H>R No ClinGen
gnomAD
CA10016854
rs775044221
1101 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs770249523
CA10016856
1102 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA10016858
rs201098019
1103 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016859
rs139832395
1104 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1105 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759906380
CA10016861
1106 S>G No ClinGen
ExAC
rs866289452
CA320284413
1106 S>N No ClinGen
Ensembl
CA10016863
rs376109953
1108 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376109953
CA10016864
1108 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1320225120
CA409874980
1110 T>S No ClinGen
gnomAD
TCGA novel 1111 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10016867
rs756941986
1111 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756941986
CA320284421
1111 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10016868
rs778736485
1112 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs533144517
CA320284423
1113 A>T No ClinGen
Ensembl
CA10016870
rs758084751
1114 D>A No ClinGen
ExAC
gnomAD
rs746451902
CA10016872
1115 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA409875007
rs768219773
1115 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA10016873
rs768219773
1115 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA10016874
rs773537758
1117 S>F No ClinGen
ExAC
gnomAD
CA10016876
VAR_027939
rs4817788
1118 C>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4817788
CA409875022
1118 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016877
rs4817788
1118 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145337645
CA10016878
1118 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409875032
rs1454173722
1119 H>L No ClinGen
gnomAD
CA409875037
rs1160221991
1120 T>A No ClinGen
gnomAD
CA10016879
rs181800611
1120 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016881
rs368185993
1123 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016882
rs764246346
1125 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA409875095
rs1569046730
1128 F>S No ClinGen
Ensembl
rs1188805914
CA409875137
1131 P>L No ClinGen
gnomAD
CA320284444
rs867186682
1131 P>S No ClinGen
Ensembl
rs750263886
CA10016888
1133 H>D No ClinGen
ExAC
gnomAD
rs374834380
CA10016890
1133 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA320284450
rs77213848
1134 D>E No ClinGen
Ensembl
CA409875153
rs573603717
1134 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016891
rs573603717
1134 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409875166
rs1175689020
1135 L>P No ClinGen
gnomAD
rs1250162853
CA409875180
1136 Q>R No ClinGen
gnomAD
rs544063813
CA409875248
1140 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016894
rs368943642
1141 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409875272
rs771615988
1142 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1164141847
CA409875302
1146 A>T No ClinGen
gnomAD
CA10016898
rs3746866
VAR_027940
1149 P>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA320284457
rs3746866
1149 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409875323
rs3746866
1149 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016897
rs146069450
1149 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1005585474
CA409875328
1150 M>R No ClinGen
TOPMed
rs1005585474
CA320284459
1150 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs761015908
CA10016902
1151 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA10016903
rs761015908
1151 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10016900
rs775515648
1151 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs761015908
CA10016901
1151 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs764554714 1152 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10016905
rs545121355
1152 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA10016904
rs377051245
1152 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10016906
rs373300915
1154 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016907
rs539542768
1154 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA409875352
rs1601444355
1155 Y>S No ClinGen
Ensembl
CA10016909
rs751171972
1156 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA409875368
rs780545605
1157 K>N No ClinGen
ExAC
gnomAD
CA10016912
rs150359151
1158 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016913
rs370652870
1158 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409875373
rs370652870
1158 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10016914
rs147966121
COSM1030497
1159 S>L endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA409875383
rs1169193347
1160 A>G No ClinGen
gnomAD
CA10016916
rs772548982
1161 L>P No ClinGen
ExAC
gnomAD
rs149496563
CA10016917
1163 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768967775
CA10016919
1164 A>T No ClinGen
ExAC
gnomAD
CA320284484
rs550112551
1165 F>L No ClinGen
gnomAD
rs1301635785
CA409875412
1166 Q>E No ClinGen
TOPMed
CA409875415
rs1404905586
1166 Q>R No ClinGen
TOPMed
TCGA novel 1167 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1168 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1366670679
CA409875450
1171 K>E No ClinGen
TOPMed
CA409875459
rs1303238859
1172 A>S No ClinGen
TOPMed
CA10016921
rs568612774
1173 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1406669707
CA409875464
1173 G>R No ClinGen
TOPMed
rs1295091592
CA409875468
1174 A>T No ClinGen
Ensembl
CA409875477
rs1569046998
1175 K>T No ClinGen
Ensembl
rs769865751
CA10016923
1177 S>I No ClinGen
ExAC
rs773123176
CA10016925
1178 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA10016926
rs766136017
1179 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs751420859
CA409875505
1180 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs144600051
CA10016928
1180 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751420859
CA10016927
1180 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1460641340
CA409875508
1181 V>M No ClinGen
Ensembl
rs922027405
CA320284494
1183 S>L No ClinGen
TOPMed
gnomAD
rs138506748
CA320284498
1185 K>* No ClinGen
ESP
TOPMed
CA409875546
rs1478524066
1186 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1196636032
CA409875550
1187 Q>* No ClinGen
TOPMed
CA409875552
rs1428215263
1187 Q>R No ClinGen
gnomAD
CA10016930
rs759779144
1188 A>T No ClinGen
ExAC
gnomAD
CA409875570
rs1361295918
1190 E>A No ClinGen
gnomAD
rs201842098
CA10016931
1191 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1193 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759013708
CA10016934
1195 D>E No ClinGen
ExAC
gnomAD
rs1401993090
CA409875602
1195 D>N No ClinGen
gnomAD
CA320284506
rs201250977
1197 E>G No ClinGen
1000Genomes
CA10016935
rs780255286
1198 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA320284510
rs940939073
1199 D>G No ClinGen
TOPMed
gnomAD
rs1569047136
CA409875629
1199 D>N No ClinGen
Ensembl
TCGA novel 1203 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145394127
CA10016937
1204 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409875693
rs1261309658
1208 S>A No ClinGen
gnomAD
CA10016941
CA409875702
rs769862800
1209 R>S No ClinGen
ExAC
gnomAD
rs1196717126
CA409875706
1210 L>P No ClinGen
gnomAD
rs375972994
CA10016944
1214 Q>R No ClinGen
ESP
ExAC
gnomAD
rs995184007
CA320284523
1215 R>Q No ClinGen
TOPMed
rs1569047208
CA409875738
1215 R>W No ClinGen
Ensembl
CA10016945
rs368586929
1217 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs3746867
CA10016946
VAR_027941
1217 R>S No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1003071122
CA409875762
1219 E>K No ClinGen
TOPMed
gnomAD
rs1003071122
CA320284526
1219 E>Q No ClinGen
TOPMed
gnomAD
rs759309995
CA10016947
1220 A>V No ClinGen
ExAC
gnomAD
rs574422765
CA10016950
1221 V>I No ClinGen
1000Genomes
ExAC
TOPMed
CA320284533
rs1043078276
1222 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs753447130
CA10016952
1223 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1220205591
CA409875799
1225 F>L No ClinGen
gnomAD
rs1281133441
CA409875807
1226 K>Q No ClinGen
TOPMed
rs1569047289
CA409875818
1227 H>R No ClinGen
Ensembl
CA409875825
rs1347154893
1228 I>N No ClinGen
gnomAD
rs1223301690
CA409875838
1230 L>P No ClinGen
gnomAD
rs141511892
CA10016956
1231 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1225046616
CA409875853
1233 Q>* No ClinGen
Ensembl
CA10016957
rs781480306
1233 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs374965265
CA10016960
1235 Y>C No ClinGen
ESP
ExAC
TOPMed
rs199832658
COSM1030499
CA10016963
1236 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA10016964
rs774288636
1238 R>G No ClinGen
ExAC
gnomAD
CA10016966
rs771893811
1238 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774288636
CA10016965
1238 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs139303926
CA10016968
1239 R>P No ClinGen
ESP
ExAC
gnomAD
rs139303926
CA320284551
1239 R>Q No ClinGen
ESP
ExAC
gnomAD
rs368837948
CA10016967
1239 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763787521
CA10016969
1240 V>G No ClinGen
ExAC
gnomAD
rs1601444857
CA409875889
1240 V>I No ClinGen
Ensembl
rs1281284727
CA409875896
1241 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10016970
rs776449940
1241 L>R No ClinGen
ExAC
gnomAD
rs545986423
CA10016973
1242 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10016972
rs764664051
1242 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs1459378815
CA409875914
1244 F>S No ClinGen
gnomAD
CA409875924
rs1182270923
1245 S>L No ClinGen
TOPMed
gnomAD
rs145489414
CA10016974
1246 V>M No ClinGen
ESP
ExAC
gnomAD
rs1417498983
CA409875931
1247 L>V No ClinGen
gnomAD
CA409875941
rs1444875748
1248 E>D No ClinGen
TOPMed
gnomAD
CA320284562
rs535603480
1250 V>M No ClinGen
gnomAD
CA409875969
rs1214673903
1253 T>A No ClinGen
gnomAD
rs559846721
CA10016977
1254 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1335961960
CA409875982
1255 P>A No ClinGen
gnomAD
TCGA novel 1257 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375348370
CA10016980
1258 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745784845
CA10016982
1259 I>M No ClinGen
ExAC
gnomAD
CA10016981
rs778924971
1259 I>T No ClinGen
ExAC
gnomAD
rs948324336
CA320284572
1260 E>A No ClinGen
TOPMed
gnomAD
rs1202225886
CA409876029
1260 E>D No ClinGen
gnomAD
rs948324336
CA409876025
1260 E>G No ClinGen
TOPMed
gnomAD
rs201452318
CA10016983
1260 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201452318
CA409876021
1260 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775589916
CA10016984
1263 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA10016986
rs768572189
1267 M>T No ClinGen
ExAC
gnomAD
CA409876141
rs1379374341
1267 M>V No ClinGen
TOPMed
rs776361859
CA10016987
1268 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA320284584
rs201954956
1270 S>N No ClinGen
1000Genomes
rs140687352
CA10016989
1273 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772650239
CA10016990
1273 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10016992
rs767975476
1274 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA10016993
rs753207716
1277 L>F No ClinGen
ExAC
gnomAD
rs1569047570
CA409876382
1278 I>V No ClinGen
Ensembl
rs756173929
CA10016994
1280 N>FFFF* No ClinGen
ExAC
rs764502961
CA10016996
1282 L>V No ClinGen
ExAC
CA409876489
rs757459880
1283 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA10016999
rs757459880
1283 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs757459880
CA10016998
1283 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs376850122
CA10017000
1284 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409876499
rs1489989315
1284 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1255706501
CA409876539
1286 Q>P No ClinGen
gnomAD
CA409876588
rs1244518195
1288 A>G No ClinGen
TOPMed
rs1282854000
CA409876595
1289 L>F No ClinGen
gnomAD
CA10017005
rs562345983
1292 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747817831
CA10017006
1293 S>N No ClinGen
ExAC
gnomAD
rs769285212
CA10017007
1294 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs772953079
CA10017008
1295 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA10017010
rs372753332
1296 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409876777
rs1302461691
1297 K>N No ClinGen
TOPMed
CA10017012
rs761238530
1301 Q>* No ClinGen
ExAC
gnomAD
CA10017013
rs201825608
1301 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017014
rs754203134
1303 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA409876856
rs754203134
1303 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA409876863
rs1403892522
1304 N>S No ClinGen
gnomAD
rs569145049
CA10017016
1305 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1278276176
CA409876902
1307 P>S No ClinGen
gnomAD
rs1278276176
CA409876899
1307 P>T No ClinGen
gnomAD
rs758490622
CA320284609
1308 H>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1308 H>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758490622
CA10017018
1308 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs780336294
CA10017020
1310 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA409876941
rs1489883476
1311 L>F No ClinGen
gnomAD
rs1555894876
CA409876966
1313 E>* No ClinGen
Ensembl
rs1268886650
CA409876975
1314 L>P No ClinGen
TOPMed
TCGA novel 1316 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1601445196
CA409876983
1316 T>P No ClinGen
Ensembl
rs755016540
CA10017022
1317 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs755016540
CA409876992
1317 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA10017023
rs781214844
1319 C>F No ClinGen
ExAC
gnomAD
rs1179455870
CA409877004
1319 C>S No ClinGen
gnomAD
TCGA novel 1321 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017025
rs755945873
1321 S>N No ClinGen
ExAC
gnomAD
CA10017026
rs144636680
1322 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017027
rs749028419
1322 F>L No ClinGen
ExAC
gnomAD
rs186967797
CA10017028
1324 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1389348128
CA409877043
1324 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409877064
rs1220305735
1326 Y>C No ClinGen
TOPMed
rs773889925
CA10017029
1327 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs551981003
CA10017030
1328 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA409877112
rs1266239031
1330 Y>C No ClinGen
gnomAD
rs145610382
CA10017031
1333 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs565804931
CA10017032
1334 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1336 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017035
rs200971009
1336 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1337 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409877252
rs1468623114
1340 G>D No ClinGen
TOPMed
CA10017037
rs548005772
1340 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA10017038
rs755785941
1341 N>I No ClinGen
ExAC
gnomAD
rs1369732884
CA409877275
1341 N>K No ClinGen
gnomAD
CA10017039
rs755785941
1341 N>S No ClinGen
ExAC
gnomAD
rs752694158
CA10017041
1342 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10017040
rs200456435
1342 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143550236
CA10017042
1343 D>H No ClinGen
ESP
ExAC
TOPMed
rs920798008
CA320284639
1344 V>A No ClinGen
TOPMed
gnomAD
CA10017044
rs200255806
CA320284636
1344 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200255806
CA10017045
1344 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776941695
CA10017049
1345 Q>H No ClinGen
ExAC
gnomAD
CA10017047
rs748484979
1345 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA10017048
rs748484979
1345 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA10017046
rs748484979
1345 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1313445332
CA409877335
1346 V>F No ClinGen
gnomAD
rs748744185
CA10017050
1347 K>E No ClinGen
ExAC
gnomAD
CA10017051
rs189803648
1348 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs948272241
CA320284648
1348 S>R No ClinGen
gnomAD
CA409877375
rs189803648
1348 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1332696766
CA409877394
1350 E>K No ClinGen
TOPMed
TCGA novel 1352 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409877448
rs1241060147
1353 I>L No ClinGen
TOPMed
gnomAD
CA10017053
rs763436515
1353 I>S No ClinGen
ExAC
gnomAD
CA409877450
rs1241060147
1353 I>V No ClinGen
TOPMed
gnomAD
rs1192478008
CA409877510
1355 I>M No ClinGen
gnomAD
rs1426282899
CA409877486
1355 I>V No ClinGen
gnomAD
CA10017055
rs150224037
1356 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141017470
CA10017054
1356 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145552235
CA10017056
1357 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017058
rs141493086
1363 A>T No ClinGen
ESP
ExAC
gnomAD
CA409877654
rs1303991502
1364 K>R No ClinGen
gnomAD
rs771044203
CA10017059
1365 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs150305493
CA320284659
1366 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA409877703
rs1341304860
1367 E>* No ClinGen
gnomAD
CA409877720
rs1260954261
1368 G>R No ClinGen
gnomAD
rs763772038
CA10017061
1371 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA409877832
rs1257760586
1372 E>G No ClinGen
gnomAD
rs1192364838
CA409877929
1375 H>L No ClinGen
gnomAD
CA320284663
rs1056850071
1376 S>C No ClinGen
Ensembl
CA10017064
rs757073367
1377 L>F No ClinGen
ExAC
gnomAD
rs778470619
CA10017065
1378 L>Q No ClinGen
ExAC
CA409877993
rs1364767098
1378 L>V No ClinGen
gnomAD
CA10017066
rs750085978
1379 Q>R No ClinGen
ExAC
gnomAD
rs201864877
CA10017067
1383 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371235392
CA320284669
1384 Q>H No ClinGen
ESP
TOPMed
RCV001263282
rs2066960838
1385 E>K No ClinVar
dbSNP
rs779678302
CA10017068
1386 F>I No ClinGen
ExAC
gnomAD
rs779678302
CA409878199
1386 F>V No ClinGen
ExAC
gnomAD
TCGA novel 1387 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1418429622
CA409878262
1389 L>F No ClinGen
gnomAD
CA409878264
rs778458066
1389 L>H No ClinGen
ExAC
gnomAD
rs778458066
CA10017071
1389 L>P No ClinGen
ExAC
gnomAD
CA409878333
rs1281685364
1392 S>L No ClinGen
gnomAD
CA409878371
rs1219631245
1393 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1315006848
CA409878397
1394 S>F No ClinGen
gnomAD
rs1215846699
CA409878418
1395 M>R No ClinGen
gnomAD
CA10017076
rs375532525
1397 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760690530
CA10017078
1399 Q>* No ClinGen
ExAC
gnomAD
rs764049383
CA10017079
1399 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA10017080
rs753776119
1400 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1289958111
CA409878597
1401 R>C No ClinGen
TOPMed
gnomAD
CA10017081
rs144780107
1401 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017082
rs144780107
1401 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750071725
CA10017083
1402 Y>C No ClinGen
ExAC
gnomAD
rs1427728071
CA409878610
1402 Y>H No ClinGen
gnomAD
COSM1740705
CA10017085
rs779407752
1403 G>R haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs751042692
CA10017086
1405 A>G No ClinGen
ExAC
gnomAD
rs200485346
CA10017088
1406 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10017087
rs754452524
1406 T>P No ClinGen
ExAC
gnomAD
CA10017090
rs372487233
1407 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409878736
rs1201226364
1408 H>P No ClinGen
Ensembl
rs1569048208
CA409878743
1408 H>Q No ClinGen
Ensembl
rs1201226364
CA409878730
1408 H>R No ClinGen
Ensembl
rs1569048213
CA409878759
1409 H>Y No ClinGen
Ensembl
rs144016996
CA10017093
1410 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144016996
CA10017092
1410 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775603487
CA10017094
1410 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs760738793
CA409878862
1412 A>D No ClinGen
ExAC
gnomAD
rs760738793
CA10017095
1412 A>V No ClinGen
ExAC
gnomAD
CA10017097
rs776536206
1415 E>K No ClinGen
ExAC
gnomAD
rs1187800338
CA409878918
1416 D>A No ClinGen
TOPMed
CA409878921
rs1187800338
1416 D>V No ClinGen
TOPMed
rs1601445730
CA409878945
1417 S>N No ClinGen
Ensembl
rs61752464
CA10017099
1418 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61752464
CA10017100
1418 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61752464
CA10017098
RCV000958039
1418 L>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA320284698
rs747382359
1421 E>K No ClinGen
Ensembl
CA320284699
rs759716834
1424 I>V No ClinGen
Ensembl
rs1259363298
CA409879102
1425 N>S No ClinGen
TOPMed
CA10017103
rs751186289
1427 G>S No ClinGen
ExAC
gnomAD
rs1027806194
CA320284704
1431 I>M No ClinGen
Ensembl
CA10017104
rs754497420
1432 W>C No ClinGen
ExAC
gnomAD
CA409879203
rs1239364128
1432 W>R No ClinGen
gnomAD
rs528207113
CA409879224
1434 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs754369476
CA10017106
1436 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1285052134
CA409879246
1438 Q>P No ClinGen
TOPMed
rs1295240798
CA409879255
1439 I>M No ClinGen
TOPMed
rs373928287
CA10017109
1439 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373928287
CA10017110
1439 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1247218530
CA409879252
1439 I>V No ClinGen
TOPMed
CA409879296
rs1445825024
1446 Q>R No ClinGen
gnomAD
rs1601445829
CA409879305
1447 V>G No ClinGen
Ensembl
rs1445772570
CA409879313
1449 I>L No ClinGen
TOPMed
gnomAD
CA10017113
rs144597744
1450 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017114
rs144597744
1450 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1394213876
CA409879339
1453 H>Y No ClinGen
TOPMed
gnomAD
rs1356449173
CA409879347
1454 H>Y No ClinGen
gnomAD
CA409879362
rs1229666157
1456 G>A No ClinGen
gnomAD
rs769669020
CA10017116
1457 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs769669020
CA409879365
1457 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10017115
rs567919644
1457 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1384409110
CA409879377
1459 H>R No ClinGen
gnomAD
rs773030017
CA10017117
1460 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA409879396
rs1459452935
1462 A>T No ClinGen
gnomAD
CA10017119
rs762772427
1462 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA409879405
rs1265315017
1463 E>G No ClinGen
TOPMed
rs759156303
CA10017121
1464 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs967906443
CA320284718
1464 N>S No ClinGen
TOPMed
CA409879421
rs1228572965
1465 Q>H No ClinGen
gnomAD
rs767116968
CA10017122
1466 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10017123
rs752208901
1467 D>N No ClinGen
ExAC
gnomAD
rs1171071683
CA409879436
1468 L>V No ClinGen
gnomAD
rs1337626812
CA409879444
1469 S>F No ClinGen
TOPMed
rs536893457
CA10017126
1470 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10017125
rs536893457
1470 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10017124
rs755719370
1470 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1281986075
CA409879450
1471 E>* No ClinGen
TOPMed
rs943283815
CA320284725
1473 Q>R No ClinGen
TOPMed
CA10017127
rs758772280
1476 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA320284727
rs938323033
1480 Q>P No ClinGen
Ensembl
CA409879529
rs1323593833
1482 I>T No ClinGen
TOPMed
rs550452193
CA320284729
1482 I>V No ClinGen
1000Genomes
CA409879537
rs1340549740
1483 S>I No ClinGen
gnomAD
rs747222206
CA409879541
1484 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs747222206
CA10017129
1484 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA320284733
rs934010995
1484 A>V No ClinGen
TOPMed
gnomAD
rs1218896665
CA409879546
1485 L>Q No ClinGen
gnomAD
CA409879556
rs1341928473
1486 Q>H No ClinGen
gnomAD
CA409879554
rs1259032199
1486 Q>L No ClinGen
gnomAD
CA10017132
rs139195617
CA409879565
1488 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017131
rs139195617
1488 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409879570
rs1443049905
1489 Q>E No ClinGen
gnomAD
COSM1732314
rs773188131
CA10017134
1492 P>S bone [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs749250443
CA10017136
1493 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA10017137
rs774066841
1493 L>P No ClinGen
ExAC
gnomAD
CA10017135
rs749250443
1493 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs767241374
CA10017139
1494 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs149947099
CA10017138
1494 T>P No ClinGen
ExAC
gnomAD
rs760201205
CA10017141
1495 S>P No ClinGen
ExAC
gnomAD
TCGA novel 1496 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017143
rs200881283
1502 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1231594938
CA409879744
1503 V>M No ClinGen
gnomAD
CA409879757
rs766743225
1504 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs766743225
CA10017145
1504 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1601446058
CA409879752
1504 V>M No ClinGen
Ensembl
rs751820526
CA10017146
1506 G>C No ClinGen
ExAC
gnomAD
CA10017147
rs755364934
1507 L>P No ClinGen
ExAC
gnomAD
rs1261616561
CA409879863
1509 P>A No ClinGen
TOPMed
CA10017149
rs752976756
1510 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751495530
CA10017151
1512 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA409879969
rs370428535
1514 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370428535
CA10017153
1514 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10017154
rs761820292
1516 H>Y No ClinGen
ExAC
gnomAD
COSM725209
rs146690528
CA10017155
1517 P>L lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs146690528
CA409880049
1517 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409880057
rs140302792
1518 A>S No ClinGen
ESP
ExAC
gnomAD
rs140302792
CA10017156
1518 A>T No ClinGen
ESP
ExAC
gnomAD
rs775264949
CA10017157
1522 L>F No ClinGen
ExAC
gnomAD
CA409880201
rs1569048609
1524 T>A No ClinGen
Ensembl
rs143442760
CA10017158
1524 T>M No ClinGen
ESP
ExAC
gnomAD
CA409880233
rs761406534
1525 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA10017162
rs766753213
1525 H>R No ClinGen
ExAC
gnomAD
rs761406534
CA10017161
1525 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs752075683
CA10017163
1526 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA320284763
rs1020686755
1528 P>A No ClinGen
TOPMed
CA10017165
rs767936629
1531 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA320284768
rs140716169
1532 K>M No ClinGen
ESP
TOPMed
CA10017167
rs756343519
1532 K>N No ClinGen
ExAC
gnomAD
CA10017168
rs202119759
1533 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753824199
CA10017169
1535 G>D No ClinGen
ExAC
gnomAD
rs374457797
CA10017170
1537 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1469696212
CA409880592
1539 T>A No ClinGen
gnomAD
rs564750753
CA10017172
1539 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409880615
rs1222530460
1540 P>R No ClinGen
TOPMed
CA10017173
rs150476018
1540 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409880624
rs1601446227
1541 F>V No ClinGen
Ensembl
CA409880634
rs1440264144
1542 V>F No ClinGen
gnomAD
CA409880650
rs1159888294
1543 V>D No ClinGen
gnomAD
rs577509412
CA320284780
1545 I>S No ClinGen
TOPMed
gnomAD
CA409880719
rs1457042849
1548 N>K No ClinGen
gnomAD
rs138558529
CA10017174
1550 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1443616096
CA409880754
1551 D>E No ClinGen
TOPMed
gnomAD
rs768144494
CA10017176
1553 V>I No ClinGen
ExAC
gnomAD
CA409880789
rs1376752743
1554 K>T No ClinGen
gnomAD
rs1569048746
CA409880818
1555 Q>H No ClinGen
Ensembl
CA10017177
rs776375204
1556 Y>H No ClinGen
ExAC
gnomAD
rs545449693
CA10017179
1558 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs377530449
CA10017181
1558 S>R No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA10017182
rs767846577
1559 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10017183
rs775786551
1562 K>N No ClinGen
ExAC
gnomAD
CA10017184
rs761136615
1563 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA409880961
rs1257223292
1564 S>C No ClinGen
gnomAD
rs908594456
CA320284791
1565 V>F No ClinGen
TOPMed
CA409880983
rs1417743750
1566 S>N No ClinGen
TOPMed
rs564314356
CA10017197
1568 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143979060
CA10017198
1568 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1056917020
CA320285025
1571 R>S No ClinGen
Ensembl
rs748822536
CA10017200
1572 E>D No ClinGen
ExAC
gnomAD
COSM1237767
rs772533241
CA10017201
1574 I>V thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA637762483
rs1286769297
1576 P>C No ClinGen
gnomAD
CA409881955
rs1173127478
1576 P>L No ClinGen
gnomAD
rs147306740
CA320285031
1576 P>S No ClinGen
ESP
TOPMed
CA10017202
rs775984502
1580 L>F No ClinGen
ExAC
rs1175535872
CA409882072
1584 E>D No ClinGen
TOPMed
CA10017204
rs532604790
1584 E>G No ClinGen
ExAC
gnomAD
rs139137838
CA10017205
1587 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017207
rs765382471
1590 S>R No ClinGen
ExAC
gnomAD
CA10017208
rs143153608
1594 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409882255
rs1236036067
1595 L>* No ClinGen
TOPMed
rs1298956821
CA409882313
1597 Q>* No ClinGen
gnomAD
rs144738332
CA10017210
1599 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017211
rs751527185
1600 Q>R No ClinGen
ExAC
gnomAD
CA320285050
rs868038102
1601 N>K No ClinGen
Ensembl
CA10017213
rs754726559
1602 K>R No ClinGen
ExAC
gnomAD
rs1381149972
CA409882771
1604 T>I No ClinGen
TOPMed
rs755912462
CA409882783
1605 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA10017236
rs755912462
1605 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs148495535
CA10017235
1605 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569049883
CA409882838
1606 A>T No ClinGen
Ensembl
CA10017237
rs777350986
1607 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs547695110
CA10017238
1608 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369588599
CA10017241
1611 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017240
rs778522851
1611 A>P No ClinGen
ExAC
gnomAD
rs567586327
CA10017242
1616 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA409883172
rs1309281827
1617 R>G No ClinGen
gnomAD
CA10017245
rs770293908
1624 L>P No ClinGen
ExAC
gnomAD
CA409883534
rs1321469455
1625 P>L No ClinGen
gnomAD
rs373514422
CA320285277
COSM1030504
1626 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373514422
CA10017247
1626 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1204444
CA320285281
rs199678194
1626 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
rs1275472859
CA409883557
1627 T>A No ClinGen
gnomAD
rs1456777122
CA409883581
1627 T>I No ClinGen
gnomAD
CA10017248
COSM1161407
rs771115208
1631 M>V haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA409883791
rs1471240404
1632 A>T No ClinGen
gnomAD
CA10017249
rs774440176
1633 L>F No ClinGen
ExAC
gnomAD
rs202073192
CA320285287
1634 L>F No ClinGen
Ensembl
rs1029236051
CA320285289
1635 W>C No ClinGen
TOPMed
CA409883998
rs1413407779
1637 V>I No ClinGen
gnomAD
CA409884080
rs1190554582
1638 L>F No ClinGen
TOPMed
gnomAD
rs936799171
CA320285296
1640 K>M No ClinGen
TOPMed
gnomAD
rs759567596
CA10017251
1644 Q>R No ClinGen
ExAC
gnomAD
rs188595573
CA10017252
1645 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1569050031
CA409884428
1647 P>L No ClinGen
Ensembl
rs1601447849
CA409884468
1649 D>G No ClinGen
Ensembl
CA409884459
rs760453207
1649 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA10017254
rs760453207
1649 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA320285311
rs760453207
1649 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA320285314
rs150579775
1654 T>A No ClinGen
ESP
TOPMed
rs944282928
CA409884582
1654 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs944282928
CA320285317
1654 T>R No ClinGen
TOPMed
gnomAD
CA409884613
rs962066516
1655 K>M No ClinGen
TOPMed
gnomAD
rs962066516
CA320285322
1655 K>R No ClinGen
TOPMed
gnomAD
CA10017256
rs753453953
1656 G>E No ClinGen
ExAC
gnomAD
rs756950440
CA10017257
1657 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA10017258
rs756950440
1657 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs749905365
CA10017259
1657 S>Y No ClinGen
ExAC
gnomAD
CA409884672
rs1198570670
1658 S>A No ClinGen
gnomAD
rs757850750
CA10017260
1658 S>F No ClinGen
ExAC
gnomAD
rs1439611565
CA409884687
1659 S>T No ClinGen
gnomAD
rs139989297
CA10017262
1660 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA409884783
rs1453948344
1662 F>S No ClinGen
TOPMed
rs1475624538
CA409884870
1665 T>A No ClinGen
gnomAD
CA320285345
rs770253013
1665 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA10017263
rs770253013
1665 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1569050122
CA409884902
1666 K>E No ClinGen
Ensembl
CA320285349
rs771932178
1666 K>R No ClinGen
Ensembl
rs753234829
CA10017283
1668 I>T No ClinGen
ExAC
gnomAD
CA409886425
rs1395159438
1668 I>V No ClinGen
gnomAD
rs756640745
CA320286334
1669 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1190510380
CA409886458
1669 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10017287
rs778457826
1670 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA409886552
rs1382467545
1671 K>N No ClinGen
gnomAD
rs1328617476
CA409886711
1676 L>S No ClinGen
gnomAD
rs769343399
CA320286355
1678 P>L No ClinGen
Ensembl
rs373133365
CA10017291
1680 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs549775346
CA320286358
1681 A>D No ClinGen
1000Genomes
ExAC
gnomAD
rs549775346
CA10017293
1681 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA10017294
rs563208003
1682 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409886929
rs1198048797
1684 G>E No ClinGen
gnomAD
CA10017296
rs776552195
1684 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1253603011
CA409886974
1686 Q>E No ClinGen
gnomAD
CA409887004
rs1455550699
1686 Q>H No ClinGen
TOPMed
gnomAD
CA409887053
rs1569051890
1688 T>A No ClinGen
Ensembl
rs1379162059
CA409887064
1688 T>R No ClinGen
gnomAD
CA10017297
rs761610546
1689 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10017300
rs762563683
1691 V>G No ClinGen
ExAC
gnomAD
CA10017301
rs766078513
1692 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10017302
rs751076399
1694 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA409887241
rs1308212746
1694 V>L No ClinGen
TOPMed
rs1443752260
CA409887298
1696 S>N No ClinGen
TOPMed
gnomAD
CA409887330
rs1175285455
1697 R>I No ClinGen
TOPMed
rs754541218
CA10017303
1699 K>Q No ClinGen
ExAC
gnomAD
CA409887390
rs1387410221
1699 K>T No ClinGen
gnomAD
CA320286405
rs373878915
1700 A>P No ClinGen
ESP
CA409887437
rs1262760950
1701 Q>* No ClinGen
gnomAD
rs754457193
CA10017305
1701 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs76166909
CA10017306
1702 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779189283
COSM1534732
CA10017307
1702 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs76166909
CA409887468
1702 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1030506
rs144310448
CA10017309
1704 S>G Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs780284551
CA10017310
1704 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1183506811 1707 K>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA409887563
rs1419192339
1707 K>E No ClinGen
gnomAD
CA320287614
rs866306206
1708 I>F No ClinGen
TOPMed
gnomAD
CA320287617
rs769005302
1708 I>S No ClinGen
TOPMed
gnomAD
CA320287608
rs866306206
1708 I>V No ClinGen
TOPMed
gnomAD
rs1216513770
CA409888597
1709 I>F No ClinGen
gnomAD
rs201458940
CA10017336
1711 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA10017337
rs146739447
1711 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774145461
CA10017339
1712 A>S No ClinGen
ExAC
gnomAD
CA10017340
rs759307048
1712 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA409888656
rs1211120416
1713 S>G No ClinGen
TOPMed
gnomAD
rs771689798
CA10017341
1714 A>T No ClinGen
ExAC
gnomAD
CA10017343
rs370139890
1716 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA320287643
rs901684269
1720 V>G No ClinGen
Ensembl
COSM1030507
rs140282403
CA10017345
1721 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409888822
rs1393345046
1721 D>V No ClinGen
gnomAD
CA10017346
rs763289785
1725 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1174360705
CA409888899
1725 A>V No ClinGen
gnomAD
CA409888911
rs1377459581
1726 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409888960
rs1383845885
1730 Q>K No ClinGen
gnomAD
CA10017348
rs751749863
1733 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA10017349
rs755242031
1736 H>R No ClinGen
ExAC
gnomAD
CA409889146
rs1214654983
1740 E>G No ClinGen
gnomAD
rs1601452809
CA409889167
1741 V>G No ClinGen
Ensembl
CA320287670
rs984749741
1742 V>A No ClinGen
TOPMed
rs756234332
CA10017352
1742 V>M No ClinGen
ExAC
gnomAD
rs374467248
CA10017356
1743 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409889216
rs1569053673
1744 R>G No ClinGen
Ensembl
rs1194721724
CA409889228
1744 R>S No ClinGen
TOPMed
CA10017357
rs778905432
1744 R>T No ClinGen
ExAC
gnomAD
rs745683174
CA10017358
1745 P>L No ClinGen
ExAC
gnomAD
CA409889330
rs959431681
1750 G>A No ClinGen
gnomAD
rs959431681
CA320287692
1750 G>E No ClinGen
gnomAD
CA10017360
rs561847713
1751 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA10017375
rs144959709
1755 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017376
rs144959709
1755 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1756 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298280645
CA409891182
1757 L>V No ClinGen
gnomAD
rs758277791
CA10017378
1758 V>A No ClinGen
ExAC
gnomAD
CA10017377
rs745588763
1758 V>M No ClinGen
ExAC
gnomAD
rs1282360741
CA409891227
1760 I>V No ClinGen
TOPMed
rs779557556
CA10017380
1761 P>A No ClinGen
ExAC
gnomAD
rs746741146
CA409891276
1762 V>L No ClinGen
ExAC
TOPMed
rs746741146
CA10017381
1762 V>M No ClinGen
ExAC
TOPMed
CA10017382
rs768019595
1767 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs959975306
CA320298749
1772 R>S No ClinGen
gnomAD
rs1397911360
CA409892833
1774 P>R No ClinGen
gnomAD
CA409892868
rs1475033731
1776 P>A No ClinGen
gnomAD
CA409892877
rs1168491504
1777 A>S No ClinGen
gnomAD
rs552496678
CA320298760
1778 L>F No ClinGen
Ensembl
rs1014236035
CA320298758
1778 L>S No ClinGen
Ensembl
CA10017406
rs769353425
1778 L>V No ClinGen
ExAC
gnomAD
rs1260879004
CA409892934
1779 Q>* No ClinGen
TOPMed
CA10017408
rs746416742
1780 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10017407
rs779390891
1780 E>Q No ClinGen
ExAC
CA409892981
rs1331262573
1781 N>K No ClinGen
TOPMed
COSM478559
rs1172500644
CA409892997
1782 F>L kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
CA409893001
rs1375636079
1783 S>A No ClinGen
gnomAD
rs772305824
CA10017409
1783 S>F No ClinGen
ExAC
gnomAD
TCGA novel 1787 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017411
rs760981613
1787 G>E No ClinGen
ExAC
gnomAD
CA409893094
rs1271329615
1788 V>I No ClinGen
gnomAD
rs933811222
CA320298819
1789 L>* No ClinGen
TOPMed
CA409893129
rs1429055932
1789 L>F No ClinGen
TOPMed
rs372462902
CA320298821
1791 E>G No ClinGen
ESP
CA10017413
rs777003460
1794 Q>R No ClinGen
ExAC
gnomAD
CA320298844
rs530900445
1795 L>F No ClinGen
1000Genomes
rs761967672
CA409893202
1795 L>S No ClinGen
ExAC
gnomAD
CA10017414
rs761967672
1795 L>W No ClinGen
ExAC
gnomAD
rs750352634
CA10017416
1796 N>S No ClinGen
ExAC
gnomAD
CA10017415
rs765477154
1796 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1213358061
CA409893237
1797 L>V No ClinGen
gnomAD
CA409893263
rs1321742343
1799 P>A No ClinGen
TOPMed
CA10017420
rs751328911
1800 P>L No ClinGen
ExAC
gnomAD
rs375198543
CA10017419
1800 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409893342
rs1223910570
1803 F>L No ClinGen
gnomAD
CA409893326
rs1192390625
1803 F>L No ClinGen
gnomAD
rs111966722
CA10017423
1804 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA10017424
rs752414959
1806 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs143047360
CA10017445
CA409893780
1808 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409893792
rs1240048515
1808 M>R No ClinGen
gnomAD
rs776878788
CA320299124
1809 L>P No ClinGen
Ensembl
CA10017446
rs756727667
1810 N>H No ClinGen
ExAC
gnomAD
rs780593090
CA10017447
1814 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs747533250
CA10017448
1814 T>I No ClinGen
ExAC
gnomAD
rs1489437516
CA409893894
1815 R>G No ClinGen
gnomAD
rs1477734514
CA409894063
1821 N>D No ClinGen
TOPMed
gnomAD
CA10017450
CA409894084
rs781722454
1821 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA10017451
rs748543696
1823 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA409894155
rs748543696
1823 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA10017465
RCV000958040
rs138528690
1832 T>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10017466
rs752081299
1834 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs752081299
CA409896710
1834 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs781772115
CA10017468
1837 E>Q No ClinGen
ExAC
gnomAD
rs1373829002
CA409896784
1839 V>G No ClinGen
gnomAD
CA320304884
rs917392774
1840 G>E No ClinGen
TOPMed
rs1381154119
CA409896829
1843 A>G No ClinGen
TOPMed
gnomAD
rs1313244755
CA409896825
1843 A>S No ClinGen
gnomAD
rs1381154119
CA409896830
1843 A>V No ClinGen
TOPMed
gnomAD
rs142668714
CA409896833
1844 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142668714
CA10017471
1844 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1272938712
CA409896844
1845 S>P No ClinGen
TOPMed
CA409896887
rs1374138426
1849 Q>K No ClinGen
gnomAD
rs771019010
CA10017473
1850 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771019010
CA409896906
1850 T>N No ClinGen
ExAC
gnomAD
CA409896956
rs1234498936
1854 S>I No ClinGen
TOPMed
CA10017474
rs376470329
1855 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1211231343
CA409896970
1855 R>S No ClinGen
gnomAD
rs752947102
CA10017475
1858 E>D No ClinGen
ExAC
gnomAD
CA10017476
rs771927238
1859 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA409897065
rs1185267748
1860 K>T No ClinGen
TOPMed
gnomAD
rs775416329
CA10017477
1861 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1450673421
CA409897171
1864 Q>R No ClinGen
gnomAD
CA10017481
rs761423474
1865 A>G No ClinGen
ExAC
gnomAD
rs760453611
CA10017479
1865 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA10017478
rs760453611
1865 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA10017480
rs760453611
1865 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA409897185
rs1177099891
1866 S>P No ClinGen
gnomAD
rs1186478752
CA409897233
1869 E>A No ClinGen
TOPMed
CA10017484
rs762558134
1870 S>F No ClinGen
ExAC
gnomAD
CA10017483
rs373714259
1870 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768080002
CA409897267
1871 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs753322566
CA10017486
1873 E>D No ClinGen
ExAC
gnomAD
rs1234531291
CA409897330
1876 L>R No ClinGen
gnomAD
rs986459408
CA320311686
1878 D>G No ClinGen
TOPMed
CA409898955
rs1601475438
1884 A>G No ClinGen
Ensembl
rs1569066948
CA409898974
1885 M>I No ClinGen
Ensembl
CA409898959
rs1176908069
1885 M>V No ClinGen
gnomAD
CA409898975
rs1419252462
1886 V>M No ClinGen
TOPMed
rs1569066957
CA409898986
1887 S>T No ClinGen
Ensembl
CA320311693
rs775534931
1887 S>Y No ClinGen
Ensembl
TCGA novel 1888 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202126758
CA10017506
1889 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1417028413
CA409899018
1890 A>T No ClinGen
gnomAD
rs778986110
CA10017508
1890 A>V No ClinGen
ExAC
gnomAD
CA409899038
rs1166219807
1891 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10017510
rs758445211
1892 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409899055
rs1348595373
1893 V>E No ClinGen
TOPMed
CA409899069
rs1412017678
1894 Y>C No ClinGen
TOPMed
gnomAD
CA10017513
rs768440725
1895 S>C No ClinGen
ExAC
gnomAD
CA10017515
rs141524099
1895 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017517
CA10017516
rs150843337
1896 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017518
rs150843337
1896 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773956226
CA10017520
1899 L>V No ClinGen
ExAC
gnomAD
rs931193509
CA320311781
1900 S>F No ClinGen
TOPMed
CA10017551
rs755009447
1905 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA409899321
rs755009447
1905 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA320312746
rs577676576
1907 A>P No ClinGen
1000Genomes
CA10017552
rs767683763
1908 S>F No ClinGen
ExAC
gnomAD
rs1346012183
CA409899379
1911 D>N No ClinGen
gnomAD
rs1601476576
CA409899424
1913 V>G No ClinGen
Ensembl
rs778603259
CA320312757
1915 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10017553
rs752740959
COSM1204441
1915 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1446340922
CA409899449
1916 S>R No ClinGen
gnomAD
CA10017554
rs756037721
1916 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1202233789
CA409899469
1917 D>G No ClinGen
TOPMed
rs1249310845
CA409899463
1917 D>N No ClinGen
gnomAD
CA409899531
rs1260344707
1922 A>T No ClinGen
TOPMed
CA409899565
rs777855885
1924 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA10017556
rs749031776
1924 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777855885
CA10017555
1924 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA320312772
rs933280754
1925 L>F No ClinGen
gnomAD
rs778700986
CA10017558
1928 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10017559
rs138227303
1928 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10017560
rs771465770
1932 Y>C No ClinGen
ExAC
gnomAD
CA409900250
rs1438748976
1933 V>A No ClinGen
gnomAD
CA320316272
rs779571413
1933 V>I No ClinGen
ExAC
gnomAD
CA10017561
rs779571413
1933 V>L No ClinGen
ExAC
gnomAD
TCGA novel 1935 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770222519
CA10017563
1935 P>S No ClinGen
ExAC
gnomAD
rs773724457
CA10017564
1936 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA409900287
rs1397238014
1936 Y>S No ClinGen
TOPMed
CA10017567
rs536538834
1938 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10017568
rs536538834
1938 R>G No ClinGen
ExAC
TOPMed
gnomAD
RCV000949103
CA10017569
rs143714922
1938 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1332627741
CA409900337
1939 N>Y No ClinGen
gnomAD
CA409900358
rs1464617930
1940 H>R No ClinGen
TOPMed
gnomAD
CA10017591
rs753800302
1942 A>D No ClinGen
ExAC
gnomAD
rs1430668165
CA409900440
1942 A>S No ClinGen
gnomAD
COSM1734380
rs373254458
CA10017593
1943 Y>C pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10017592
rs200333230
1943 Y>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1313417642
CA409900470
1944 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 1945 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409900480
rs1194590236
1945 A>T No ClinGen
TOPMed
rs1342206493
CA409900486
1946 P>A No ClinGen
gnomAD
rs779745458
CA409900521
1949 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10017596
rs779745458
1949 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774686631
CA10017595
1949 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10017597
rs751281448
1951 G>D No ClinGen
ExAC
gnomAD
rs139969090
CA10017599
1952 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200254390
CA409900543
1952 A>V No ClinGen
gnomAD
rs1331480240
CA409900565
1956 S>N No ClinGen
TOPMed
CA409900575
rs1263848202
1957 S>F No ClinGen
gnomAD
CA10017601
rs771973398
1960 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs772382700
CA10017605
1964 T>I No ClinGen
ExAC
gnomAD
CA10017604
rs146275269
1964 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775748005
CA10017606
1966 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA10017607
rs377583849
1966 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017608
rs377583849
1966 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs940707495
CA320316603
1973 L>M No ClinGen
Ensembl
CA10017613
rs762805059
1978 D>N No ClinGen
ExAC
gnomAD
rs948188914
CA320316610
1979 P>L No ClinGen
gnomAD
CA409900718
rs370211956
1980 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017615
rs370211956
1980 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10017618
rs767161249
1984 M>R No ClinGen
ExAC
gnomAD
rs767161249
CA10017617
1984 M>T No ClinGen
ExAC
gnomAD
CA10017619
rs201241976
1986 T>A No ClinGen
ExAC
gnomAD
rs1247483108
CA409900768
1987 S>A No ClinGen
gnomAD
COSM325200
rs1465443902
CA409900771
1987 S>F lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs953355282
CA320316649
1989 V>F No ClinGen
TOPMed
CA10017620
rs779467244
1989 V>G No ClinGen
ExAC
gnomAD
CA10017621
rs746398996
1990 H>R No ClinGen
ExAC
gnomAD
CA409900786
rs1423239822
1990 H>Y No ClinGen
gnomAD
CA409901266
rs1385274907
1991 W>* No ClinGen
gnomAD
CA409901252
rs1192065032
1991 W>R No ClinGen
gnomAD
rs767141074
CA10017635
1993 S>F No ClinGen
ExAC
rs1269188164
CA409901320
1994 I>V No ClinGen
gnomAD
rs752412718
CA10017636
1995 I>T No ClinGen
ExAC
gnomAD
rs1158155334
CA409901391
1997 H>D No ClinGen
gnomAD
CA10017637
rs150953964
1998 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017638
rs763558472
2001 H>Y No ClinGen
ExAC
gnomAD
rs903827373
CA320318271
2002 E>G No ClinGen
Ensembl
rs752675558
CA320318282
2003 K>E No ClinGen
Ensembl
CA10017639
rs139532526
2005 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758788815
CA10017640
2008 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 2009 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751916782
CA10017642
2010 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs780714685
CA10017641
2010 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs760191495
CA10017654
2011 N>I No ClinGen
ExAC
gnomAD
CA320319214
CA409901783
rs959039537
2012 M>I No ClinGen
TOPMed
CA10017656
rs753223463
2012 M>V No ClinGen
ExAC
gnomAD
rs761404250
CA10017657
2014 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA320319225
rs935854507
2014 S>N No ClinGen
TOPMed
gnomAD
rs766982010
CA10017658
2016 S>A No ClinGen
ExAC
CA10017660
rs755363922
2019 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA409902016
CA10017663
rs753129747
2028 M>I No ClinGen
ExAC
TOPMed
gnomAD
COSM1495181
CA320319248
rs996130220
2028 M>T kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs539253723
CA10017665
2032 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10017666
rs371276979
COSM1204440
2032 R>H liver large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA409902066
rs1601480301
2033 Q>H No ClinGen
Ensembl
rs1280885097
CA409902100
2036 A>S No ClinGen
TOPMed
CA10017668
rs778789753
2037 V>A No ClinGen
ExAC
gnomAD
CA10017667
rs147782382
2037 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA320319305
rs35543976
2038 F>L No ClinGen
Ensembl
CA409902194
rs1168903696
2042 L>F No ClinGen
gnomAD
rs1332646404
CA409902252
2045 Y>S No ClinGen
gnomAD
rs1601480352
CA409902291
2046 H>P No ClinGen
Ensembl
CA10017670
rs772015205
2047 L>F No ClinGen
ExAC
gnomAD
CA320319308
rs772015205
2047 L>V No ClinGen
ExAC
gnomAD
CA409902321
rs1310266167
2048 Y>H No ClinGen
TOPMed
CA10017671
rs775104443
2048 Y>S No ClinGen
ExAC
gnomAD
CA320319315
rs971569867
2049 L>F No ClinGen
TOPMed
rs1338745381
CA409902348
2049 L>P No ClinGen
gnomAD
CA409902340
rs971569867
2049 L>V No ClinGen
TOPMed
CA409902377
rs1336484392
2051 L>P No ClinGen
TOPMed
rs768138370
CA10017673
2053 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs145488940
CA10017698
2055 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760916018
CA409903357
2055 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760916018
CA10017700
2055 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs145488940
CA10017699
2055 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369681681
CA10017703
2058 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs935191724
CA320324920
2059 N>S No ClinGen
Ensembl
CA409903427
rs1297230515
2062 V>I No ClinGen
TOPMed
CA409903429
rs1297230515
2062 V>L No ClinGen
TOPMed
CA409903461
rs1387282844
2065 T>A No ClinGen
gnomAD
rs1387282844
CA409903463
2065 T>P No ClinGen
gnomAD
CA10017708
rs747011437
2067 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA10017707
rs779854413
2067 I>V No ClinGen
ExAC
gnomAD
rs202033852
CA320324966
2068 V>I No ClinGen
1000Genomes
gnomAD
rs1331908574
CA409903540
2072 M>I No ClinGen
gnomAD
rs1006799434
CA320324967
2074 L>P No ClinGen
gnomAD
CA10017709
rs754708167
2075 F>I No ClinGen
ExAC
gnomAD
TCGA novel 2075 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409903579
rs1569073282
2076 F>L No ClinGen
Ensembl
rs34641375 2076 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379351877
CA409903594
2078 V>I No ClinGen
gnomAD
rs1353718188
CA409903629
2083 I>M No ClinGen
gnomAD
CA409903633
rs1290063526
2084 S>Y No ClinGen
gnomAD
CA10017713
rs769506118
2085 P>R No ClinGen
ExAC
gnomAD
rs773056032
CA10017714
2086 Q>P No ClinGen
ExAC
gnomAD
CA409903653
rs1375067560
2087 H>R No ClinGen
TOPMed
TCGA novel 2090 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017718
rs761191720
2094 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10017719
rs764535421
2095 M>T No ClinGen
ExAC
gnomAD
rs528236649
CA10017720
2096 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA320325076
rs1018221407
2097 S>C No ClinGen
Ensembl
rs756038924
CA10017734
2100 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs748470118
CA320325618
2101 Q>E No ClinGen
Ensembl
CA10017735
rs200835895
2103 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10017736
rs565974792
2104 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA409903946
rs1385983150
2105 Q>P No ClinGen
gnomAD
rs779495484 2108 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs770511494
CA10017738
2109 D>N No ClinGen
ExAC
gnomAD
rs1314631080
CA409904024
2110 L>V No ClinGen
gnomAD
rs1319785986
CA409904075
2112 D>E No ClinGen
TOPMed
gnomAD
CA409904068
rs1299698232
2112 D>G No ClinGen
gnomAD
rs745369940
CA10017740
2113 E>V No ClinGen
ExAC
gnomAD
rs933942782
CA320325656
2114 D>N No ClinGen
TOPMed
CA320325659
rs1047052221
2114 D>V No ClinGen
Ensembl
CA320325658
rs933942782
2114 D>Y No ClinGen
TOPMed
TCGA novel 2116 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409904144
rs1384443202
2116 S>L No ClinGen
gnomAD
TCGA novel 2117 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017742
rs777178185
2117 L>F No ClinGen
ExAC
gnomAD
rs555614525
CA320326066
2119 S>G No ClinGen
Ensembl
CA10017764
rs771129069
2119 S>N No ClinGen
ExAC
gnomAD
rs1157733814
CA409904321
2120 T>I No ClinGen
gnomAD
rs1416413196
CA409904326
2121 N>Y No ClinGen
TOPMed
gnomAD
CA10017765
rs774497118
2122 K>N No ClinGen
ExAC
gnomAD
TCGA novel 2125 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017766
rs759628463
2125 R>T No ClinGen
ExAC
gnomAD
rs1291373420
CA409904381
2126 T>A No ClinGen
gnomAD
CA10017767
rs369366196
2126 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017769
rs760648774
2127 K>E No ClinGen
ExAC
gnomAD
rs747461595
CA320326099
CA409904390
2127 K>N No ClinGen
Ensembl
rs1347915047
CA409904388
2127 K>R No ClinGen
gnomAD
rs764127504
CA10017770
2128 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA10017771
rs753607150
2130 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA10017772
rs771112644
2131 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA409904411
rs771112644
2131 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA409904410
rs771112644
2131 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA409904416
rs1418043185
2132 D>G No ClinGen
Ensembl
rs1488293233
CA409904420
2133 A>T No ClinGen
gnomAD
CA409904436
rs1222930190
2135 G>* No ClinGen
gnomAD
CA320326113
rs202130436
2136 P>L No ClinGen
Ensembl
rs148107750
CA10017775
2136 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA320326122
rs375593206
2137 S>T No ClinGen
TOPMed
CA10017777
rs201763156
2138 V>A No ClinGen
ExAC
TOPMed
gnomAD
VAR_027942
CA10017780
rs3827183
2139 G>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 2140 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409904459
rs1227581545
2140 E>K No ClinGen
gnomAD
TCGA novel 2140 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017781
rs749652610
2141 I>T No ClinGen
ExAC
gnomAD
CA409904479
rs1296165226
2142 P>L No ClinGen
gnomAD
CA320326169
rs370241915
2143 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10017782
rs370241915
2143 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774609126
CA10017783
2146 L>F No ClinGen
ExAC
gnomAD
CA10017784
rs746027031
2147 I>N No ClinGen
ExAC
gnomAD
rs772455030
CA10017785
2148 L>S No ClinGen
ExAC
gnomAD
CA320326199
rs541915274
2150 L>I No ClinGen
1000Genomes
rs746104940
CA320326233
2151 S>* No ClinGen
Ensembl
rs574292495
CA320326221
2151 S>P No ClinGen
Ensembl
CA10017788
rs769956298
2155 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409904642
rs1374740540
2155 F>V No ClinGen
gnomAD
CA320326278
rs762776773
2157 D>E No ClinGen
gnomAD
rs775295835
CA320326275
2157 D>H No ClinGen
Ensembl
CA10017790
rs761641284
2159 A>T No ClinGen
ExAC
gnomAD
rs764993253
CA10017791
2159 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1478996338
CA409904727
2161 S>C No ClinGen
Ensembl
CA320326295
rs111633288
2163 P>Q No ClinGen
Ensembl
CA409904777
rs751012880
CA10017796
2165 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10017795
rs766025678
2165 D>N No ClinGen
ExAC
gnomAD
CA320326341
rs867330585
2168 P>L No ClinGen
Ensembl
rs754542077
CA10017797
2171 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA409904868
rs1171907814
2172 I>V No ClinGen
Ensembl
rs141958834
CA320329261
2173 Y>C No ClinGen
ESP
TOPMed
CA409905069
rs1569075265
2173 Y>H No ClinGen
Ensembl
CA10017819
rs547046636
2179 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547046636
CA409905207
2179 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1202424487
CA409905257
2182 D>N No ClinGen
TOPMed
CA10017821
rs758896790
2184 E>D No ClinGen
ExAC
gnomAD
CA409905335
rs1485005224
2185 G>V No ClinGen
TOPMed
CA10017822
rs780389528
2186 P>H No ClinGen
ExAC
gnomAD
rs542346865
CA10017823
2187 A>G No ClinGen
ExAC
gnomAD
CA10017825
rs781095363
2190 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs773259719
CA10017828
2191 D>Y No ClinGen
ExAC
gnomAD
CA409905435
rs1243501586
2192 V>I No ClinGen
TOPMed
gnomAD
CA409905474
rs1291981073
2194 E>G No ClinGen
TOPMed
rs930749189
CA320329350
2195 N>I No ClinGen
Ensembl
CA10017829
rs762733974
2196 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1312933411
CA409905532
2197 Q>K No ClinGen
TOPMed
rs200190938
CA320329352
2199 C>W No ClinGen
TOPMed
rs1429144854
CA409905670
2204 V>I No ClinGen
gnomAD
rs567010315
CA10017830
2205 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA320329379
rs1002435590
2209 L>V No ClinGen
Ensembl
CA10017833
rs767203110
2214 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA409905835
rs1319158487
2214 F>V No ClinGen
gnomAD
CA10017888
rs766998376
2217 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1182583536
CA409906006
2219 S>I No ClinGen
gnomAD
CA409906004
rs1182583536
2219 S>N Variant assessed as Somatic; 9.247e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1007699695
CA320330874
2220 S>A No ClinGen
Ensembl
CA10017891
rs767632905
2221 D>A No ClinGen
ExAC
gnomAD
CA409906018
rs1163111881
2221 D>E No ClinGen
gnomAD
rs543343307
CA10017890
2221 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753007073
CA10017892
2224 T>A No ClinGen
ExAC
gnomAD
rs1426274211
CA409906037
2224 T>S No ClinGen
gnomAD
CA320330924
rs867638562
2228 E>K No ClinGen
Ensembl
CA409906085
rs1391932785
2230 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1338246158
CA409906090
2231 L>P No ClinGen
gnomAD
rs191812634
CA10017896
2232 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA10017897
rs376673997
2233 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376673997
CA10017898
2233 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745645248
CA10017899
2233 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs376673997
CA409906096
2233 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10017900
rs368780975
2235 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 2236 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409906121
rs1205472471
2237 V>I No ClinGen
TOPMed
rs1205472471
CA409906122
2237 V>L No ClinGen
TOPMed
rs993309876
CA320330987
2240 I>V No ClinGen
TOPMed
gnomAD
rs1331681768
CA409906155
2242 Q>* No ClinGen
gnomAD
rs1276331271
CA409906157
2242 Q>R No ClinGen
TOPMed
TCGA novel 2243 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10017901
rs774981769
2244 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1253303847
CA409906178
2245 P>S No ClinGen
gnomAD
CA10017902
rs746620868
2248 M>K No ClinGen
ExAC
gnomAD
CA409906202
rs746620868
2248 M>T No ClinGen
ExAC
gnomAD
rs768456173
CA409906212
2250 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1226458598
CA409906267
2258 R>G No ClinGen
TOPMed
CA409906346
rs1349994812
2269 F>L No ClinGen
TOPMed
CA10017909
rs767976519
2271 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA409906361
rs1293865663
2272 F>I No ClinGen
gnomAD
CA409906370
rs1228621292
2273 P>A No ClinGen
gnomAD
rs764310763
CA10017912
2273 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs1228621292
CA409906369
2273 P>T No ClinGen
gnomAD
CA409906382
rs1322065442
2274 V>D No ClinGen
gnomAD
rs1415415722
CA409906388
2275 T>A No ClinGen
TOPMed
rs758339078
CA10017913
2276 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1203093110
CA409906399
2276 D>N No ClinGen
gnomAD
CA320331098
rs992621899
2277 S>R No ClinGen
TOPMed
CA10017914
rs373792157
2278 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778789793
CA409906451
2279 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA10017916
rs750422482
2280 I>F No ClinGen
ExAC
gnomAD
rs758288400
CA10017917
2281 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10017918
rs779860371
2282 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA320331135
rs973273109
2283 Q>* No ClinGen
TOPMed
rs920486852
CA320331143
2284 L>V No ClinGen
TOPMed
rs746786992
CA10017919
2287 C>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs768366344
CA10017920
2287 C>S No ClinGen
ExAC
gnomAD
rs747660734
CA10017922
2289 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1206799452
CA409906603
2290 Y>C No ClinGen
TOPMed
rs1328376638
CA409906613
2291 D>Y No ClinGen
TOPMed
rs1268920620
CA409906648
2294 E>K No ClinGen
TOPMed
rs1601490753
CA409906681
2296 P>A No ClinGen
Ensembl
rs1287858810
CA409906699
2297 E>G No ClinGen
gnomAD
CA409906719
rs1385261221
2298 C>S No ClinGen
gnomAD

No associated diseases with Q9Y3R5

2 regional properties for Q9Y3R5

Type Name Position InterPro Accession
domain AVL9/DENND6 domain 43 - 179 IPR018307
domain Tripartite DENN domain 43 - 499 IPR037516

Functions

Description
EC Number
Subcellular Localization
  • Early endosome membrane
  • Golgi apparatus membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane The lipid bilayer surrounding an early endosome.
endosome A vacuole to which materials ingested by endocytosis are delivered.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
trans-Golgi network The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name Definition
cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.
embryonic pattern specification The process that results in the patterns of cell differentiation that will arise in an embryo.
endoplasmic reticulum organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
Golgi to endosome transport The directed movement of substances from the Golgi to early sorting endosomes. Clathrin vesicles transport substances from the trans-Golgi to endosomes.
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.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MDPEEQELLN DYRYRSYSSV IEKALRNFES SSEWADLISS LGKLNKALQS NLRYSLLPRR
70 80 90 100 110 120
LLISKRLAQC LHPALPSGVH LKALETYEII FKIVGTKWLA KDLFLYSCGL FPLLAHAAVS
130 140 150 160 170 180
VRPVLLTLYE KYFLPLQKLL LPSLQAFIVG LLPGLEEGSE ISDRTDALLL RLSLVVGKEV
190 200 210 220 230 240
FYTALWGSVL ASPSIRLPAS VFVVGHINRD APGREQKYML GTNHQLTVKS LRASLLDSNV
250 260 270 280 290 300
LVQRNNLEIV LFFFPFYTCL DSNERAIPLL RSDIVRILSA ATQTLLRRDM SLNRRLYAWL
310 320 330 340 350 360
LGSDIKGNTV VPESEISNSY EDQSSYFFEK YSKDLLVEGL AEILHQKFID ADVEERHHAY
370 380 390 400 410 420
LKPFRVLISL LDKPEIGPQV VGNLFLEVIR AFYSYCRDAL GSDLKLSYTQ SGNSLISAIK
430 440 450 460 470 480
ENRNASEIVK TVNLLITSLS TDFLWDYMTR CFEECFRPVK QRYSVRNSVS PPPTVSELCA
490 500 510 520 530 540
LLVFLLDVIP LELYSEVQTQ YLPQVLGCLV QPLAEDMEAL SLPELTHALK TCFKVLSKVQ
550 560 570 580 590 600
MPPSYLDTES TSGTSSPVKG ENGKIILETK AVIPGDEDAS FPPLKSEDSG IGLSASSPEL
610 620 630 640 650 660
SEHLRVPRVS LERDDVWKKG GSMQRTFLCI QELIANFASK NIFGVQLTAS GEESKSEEPA
670 680 690 700 710 720
GKRDRDGTQS LAANDSSRKN SWEPKPITVP QFKQMLSDLF TARGSPFKTK SSESPSSSPS
730 740 750 760 770 780
SPARKNGGEW DVEKVVIDLG GSREERREAF AAACHLLLDC ATFPVYLSEE ETEQLCATLF
790 800 810 820 830 840
QLPGAGDSSF PSWLKSLMTI CCCVTDCYLQ NVAISTLLEV INHSQSLALV IEDKMKRYKS
850 860 870 880 890 900
SGHNPFFGKL QMVTVPPIAP GILKVIAEKT DFYQRVARVL WNQLNKETRE HHVTCVELFY
910 920 930 940 950 960
RLHCLAPTAN ICEDIICHAL LDPDKGTRLE ALFRFSVIWH LTREIQGSRV TSHNRSFDRS
970 980 990 1000 1010 1020
LFVVLDSLAC TDGAIGAAAQ GWLVRALSLG DVARILEPVL LLLLQPKTQR TSIHCLKQEN
1030 1040 1050 1060 1070 1080
SADDLHRWFN RKKTSFREAC AVPEPQESGS EEHLPLSQFT TVDREAIWAE VEKEPEKYPL
1090 1100 1110 1120 1130 1140
RGELSEEELP YYVELPDRTA HGAPDSSEHT ESADTSSCHT DSENTSSFSS PSHDLQELSN
1150 1160 1170 1180 1190 1200
EENCCAPIPM GGRAYPKRSA LLAAFQSESF KAGAKLSLVR VDSDKTQASE SFSSDEEADL
1210 1220 1230 1240 1250 1260
ELQALTTSRL LKQQRERQEA VEALFKHILL YLQPYDSRRV LYAFSVLEAV LKTNPKEFIE
1270 1280 1290 1300 1310 1320
AVSRTSMDTS STAHLNLISN LLARHQEALI GQSFYGKLQT QVPNVCPHSL LLELLTYLCL
1330 1340 1350 1360 1370 1380
SFLRSYYPCY LKVSHRDILG NRDVQVKSVE VLIRIMMQLV SVAKSSEGKN VEFIHSLLQR
1390 1400 1410 1420 1430 1440
CKVQEFVLLS LSASMYTSQK RYGLATAHHG RALPEDSLFE ESLINLGQDQ IWSEHPLQIE
1450 1460 1470 1480 1490 1500
LLKLLQVLIV LEHHLGRAHE EAENQPDLSR EWQRALNFQQ AISALQYVQP HPLTSQGLLV
1510 1520 1530 1540 1550 1560
SAVVRGLQPA YGYGMHPAWV SLVTHSLPYF GKSLGWTVTP FVVQICKNLD DLVKQYESES
1570 1580 1590 1600 1610 1620
VKLSVSTTSK RENISPDYPL TLLEGLTTIS HFCLLEQANQ NKKTMAAGDP ANLRNARNAI
1630 1640 1650 1660 1670 1680
LEELPRTVNT MALLWNVLRK EETQKRPVDL LGATKGSSSV YFKTTKTIRQ KILDFLNPLT
1690 1700 1710 1720 1730 1740
AHLGVQLTAA VAAVWSRKKA QRHSKMKIIP TASASQLTLV DLVCALSTLQ TDTLLHLVKE
1750 1760 1770 1780 1790 1800
VVKRPPQVKG GDEKSPLVDI PVLQFCYAFL QRLPVPALQE NFSSLLGVLK ESVQLNLAPP
1810 1820 1830 1840 1850 1860
GYFLLLSMLN DFVTRTPNLE NKKDQKDLQE ITQKILEAVG NIAGSSLEQT SWLSRNLEVK
1870 1880 1890 1900 1910 1920
AQPQASLEES DAEEDLYDAA AASAMVSSSA PSVYSVQALS LLAEVLASLL DMVYRSDEKE
1930 1940 1950 1960 1970 1980
KAVPLISRLL YYVFPYLRNH SAYNAPSFRA GAQLLSSLSG YAYTKRAWRK EVLELFLDPA
1990 2000 2010 2020 2030 2040
FFQMDTSCVH WKSIIDHLLT HEKTMFKDLM NMQSSSLKLF SSFEQKAMLL KRQAFAVFSG
2050 2060 2070 2080 2090 2100
ELDQYHLYLP LIQERLTDNL RVGQTSIVAA QMFLFFRVLL LRISPQHLTS LWPIMVSELI
2110 2120 2130 2140 2150 2160
QTFTQLEEDL KDEDESLRST NKVNRTKVSV PDANGPSVGE IPQSELILYL SACKFLDTAL
2170 2180 2190 2200 2210 2220
SFPPDKMPLF QIYRWAFIPE VDTEGPAFLS DVEENHQECK PHTVRILELL KLKFGEISSS
2230 2240 2250 2260 2270 2280
DEITMKSEFP LLRQHSVSSI RQLMPFFMTL NGAFKTQRQL PADSPGTPFL DFPVTDSPRI
2290
LKQLEECIEY DFLEHPEC