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

3 structures for O75691

Entry ID Method Resolution Chain Position Source
7MQ8 EM 360 A SP 1-2785 PDB
7MQ9 EM 387 A SP 1-2785 PDB
7MQA EM 270 A SP 1-2785 PDB

2125 variants for O75691

Variant ID(s) Position Change Description Diseaes Association Provenance
CA386251321
rs1486690302
3 T>I No ClinGen
gnomAD
rs1047957812
CA242155722
3 T>P No ClinGen
TOPMed
gnomAD
CA386251330
rs1186890675
4 K>N No ClinGen
TOPMed
gnomAD
CA242155724
rs903392204
5 P>S No ClinGen
Ensembl
rs1431115269
CA386251341
6 V>A No ClinGen
gnomAD
CA386251337
rs1461879567
6 V>I No ClinGen
TOPMed
rs1593413354
CA386251366
10 T>A No ClinGen
Ensembl
CA386251370
rs1429335228
10 T>I No ClinGen
gnomAD
rs1037758439
CA242155729
11 E>D No ClinGen
TOPMed
rs1157518164
CA386251391
13 T>I No ClinGen
gnomAD
rs1327668743
CA386251392
14 Y>D No ClinGen
TOPMed
gnomAD
rs1327668743
CA386251394
14 Y>H No ClinGen
TOPMed
gnomAD
CA386251400
rs1431885310
15 R>W No ClinGen
gnomAD
CA6741554
rs777483339
COSM1358125
19 F>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA386251460
rs1311999347
22 R>* No ClinGen
gnomAD
rs151017457
CA6741555
22 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770835593
CA6741556
CA6741557
24 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs201119620
CA242155942
25 N>D No ClinGen
TOPMed
gnomAD
rs772093974
CA6741559
29 D>G No ClinGen
ExAC
gnomAD
rs1470261642
CA386251511
30 I>T No ClinGen
gnomAD
CA386251531
rs1254828460
33 R>Q No ClinGen
TOPMed
rs1181779838
CA386251530
COSM199541
33 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1412281080
CA386251534
34 I>L No ClinGen
gnomAD
rs1446753350
CA386251539
34 I>T No ClinGen
gnomAD
TCGA novel 34 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386251551
rs1344179662
36 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs138442594
CA242155951
38 A>E No ClinGen
ESP
TOPMed
gnomAD
rs1428039371
CA386251576
40 Y>H No ClinGen
gnomAD
CA386251595
rs1355179634
42 E>G No ClinGen
gnomAD
rs1275866065 43 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs766639911
CA6741582
45 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA386251794
rs766639911
45 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 46 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242157086
rs201613032
48 F>I No ClinGen
1000Genomes
CA6741584
rs199984180
49 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741583
rs199984180
49 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386251866
rs1248010989
50 E>D No ClinGen
gnomAD
CA386251875
rs1195783643
51 G>D No ClinGen
gnomAD
CA6741585
rs767850144
51 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs574807809
CA6741587
53 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1171081345
CA386251957
57 E>* No ClinGen
TOPMed
gnomAD
CA386251953
rs1171081345
57 E>K No ClinGen
TOPMed
gnomAD
rs753446896
CA6741590
61 T>A No ClinGen
ExAC
rs1419326275
CA6741591
61 T>I No ClinGen
TOPMed
rs756918885
CA6741593
63 H>R No ClinGen
ExAC
gnomAD
CA6741594
rs778741912
64 F>Y No ClinGen
ExAC
gnomAD
CA386252045
rs1444527886
65 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA242157164
rs887997462
66 K>R No ClinGen
Ensembl
TCGA novel 68 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs959303458
CA242157167
69 K>R No ClinGen
TOPMed
TCGA novel 70 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6741624
rs772232391
72 I>T No ClinGen
ExAC
gnomAD
CA6741625
rs775873004
73 D>Y No ClinGen
ExAC
gnomAD
rs1232902128
CA386252191
74 K>R No ClinGen
TOPMed
TCGA novel 74 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1171109336
CA386252249
77 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel
CA6741627
rs542537526
78 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
1000Genomes
ExAC
gnomAD
rs140064475
CA6741628
79 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762468305
CA386252296
CA6741629
82 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs762468305
CA386252295
82 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA386252308
rs749945156
83 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs749945156
CA6741631
83 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA6741632
rs762707848
84 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6741634
rs751332898
87 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1474140212
CA386252377
88 I>M No ClinGen
TOPMed
rs375167600
CA6741636
88 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149447402
CA6741635
88 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1360665519
CA386252416
93 K>E No ClinGen
gnomAD
rs189494608
CA6741637
93 K>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 94 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756081314
CA386252447
95 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779027623
CA386252450
96 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs779027623
CA6741640
96 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772296088
CA6741641
97 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1251101276
CA386252461
97 Q>K No ClinGen
gnomAD
rs1244743209
CA386252479
98 V>A No ClinGen
gnomAD
rs764439575
CA242157203
98 V>I No ClinGen
gnomAD
CA386252500
rs1445080915
100 N>K No ClinGen
gnomAD
rs1167511207
CA386252501
101 S>R No ClinGen
TOPMed
gnomAD
CA6741643
rs747342486
104 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 104 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143875613
CA6741644
107 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368079018
CA6741646
109 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs78440807
CA6741645
109 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386252891
rs1287507270
110 L>F No ClinGen
gnomAD
CA6741666
rs755292222
112 V>A No ClinGen
ExAC
gnomAD
CA386252899
rs1364582190
112 V>L No ClinGen
gnomAD
CA386252933
rs1300922546
116 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 117 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6741669
rs2290723
120 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6741667
rs781676133
120 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA6741668
VAR_055135
rs2290723
120 M>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs781676133
CA386252975
120 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1324216456
CA386253032
124 P>L No ClinGen
TOPMed
gnomAD
rs773600658
CA6741670
124 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA386253038
rs1258709083
125 H>R No ClinGen
gnomAD
rs1215046089
CA386253036
125 H>Y No ClinGen
gnomAD
rs369418489
CA242157314
126 F>L No ClinGen
ESP
TOPMed
gnomAD
rs749860562
CA6741671
127 P>T No ClinGen
ExAC
gnomAD
TCGA novel 129 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242157319
rs967727528
129 F>L No ClinGen
Ensembl
rs761528888 131 L>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6741675
rs773948737
131 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs761528888 131 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs373688404
CA6741676
132 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1193683579
CA386253139
134 T>A No ClinGen
gnomAD
rs147399996
CA6741677
COSM286419
135 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6741679
rs760465766
136 I>T No ClinGen
ExAC
rs1371439798
CA386253208
140 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6741681
rs753707234
141 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA386253272
rs1406794433
144 L>S No ClinGen
TOPMed
gnomAD
rs907528322
CA242157344
145 L>I No ClinGen
TOPMed
gnomAD
CA6741683
rs145256826
146 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741684
rs751739229
150 T>A No ClinGen
ExAC
gnomAD
CA6741686
rs781599831
151 S>A No ClinGen
ExAC
gnomAD
CA6741687
rs376796297
151 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376796297
CA386253355
COSM1358128
151 S>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6741688
rs756451766
152 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs749723360
CA6741690
153 S>* No ClinGen
ExAC
gnomAD
rs201815900
CA6741689
153 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA6741691
rs771513621
154 Y>C No ClinGen
ExAC
gnomAD
rs1342829764
CA386253381
154 Y>H No ClinGen
TOPMed
rs773800381
CA6741692
155 L>R No ClinGen
ExAC
gnomAD
CA6741693
rs745413991
156 Y>C No ClinGen
ExAC
CA386253436
rs1299725788
158 Y>H No ClinGen
TOPMed
rs1231883081
CA386253490
160 W>C No ClinGen
TOPMed
rs1163367785
CA386253550
163 M>K No ClinGen
gnomAD
RCV000962474
CA6741697
rs142220773
167 M>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs147632286
CA6741695
167 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147632286
CA6741696
167 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741698
rs776529179
168 S>C No ClinGen
ExAC
gnomAD
rs200657881
CA6741699
169 S>I No ClinGen
1000Genomes
ExAC
gnomAD
CA6741700
rs765245286
170 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs752936556
CA6741715
173 M>I No ClinGen
ExAC
gnomAD
rs998194291
CA242157936
173 M>T No ClinGen
Ensembl
CA386254014
rs1408238650
175 S>G No ClinGen
gnomAD
CA242157940
rs566754342
176 T>I No ClinGen
gnomAD
CA242157943
rs865912868
177 L>F No ClinGen
gnomAD
rs1336075160
CA386254083
179 A>T No ClinGen
gnomAD
TCGA novel 180 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6741717
rs761702669
180 H>Y No ClinGen
ExAC
gnomAD
CA6741718
rs146982196
181 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1315268123
CA386254147
182 K>E No ClinGen
gnomAD
CA6741719
rs567907949
183 L>P No ClinGen
1000Genomes
ExAC
CA6741721
rs535107469
184 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386254184
rs1274459581
184 H>Y No ClinGen
gnomAD
CA6741722
rs555371440
185 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386254243
rs1383919700
187 N>S No ClinGen
TOPMed
rs764407781
CA6741724
189 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6741726
rs368669699
193 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1444997495
CA386254358
195 F>L No ClinGen
gnomAD
CA6741727
rs187729337
196 L>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758944883
CA6741729
197 M>V No ClinGen
ExAC
gnomAD
CA386254422
rs1175539996
199 K>Q No ClinGen
gnomAD
rs376412636
CA6741747
201 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386254588
rs1205625954
202 D>G No ClinGen
TOPMed
CA386254586
rs1243893306
202 D>Y No ClinGen
TOPMed
TCGA novel 204 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1348553737
COSM1706098
CA386254604
204 N>S skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1319804145
CA386254610
205 A>E No ClinGen
gnomAD
CA386254608
rs750971526
205 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6741749
rs750971526
205 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6741751
rs780629141
207 F>S No ClinGen
ExAC
gnomAD
CA242158297
rs974542710
208 N>S No ClinGen
Ensembl
rs755877160
CA386254642
210 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs755877160
CA6741753
210 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs796192637
CA242158302
210 M>V No ClinGen
TOPMed
gnomAD
rs1460435166
CA386254654
211 F>L No ClinGen
Ensembl
CA6741754
rs777657859
212 L>I No ClinGen
ExAC
gnomAD
CA386254683
rs1348911016
216 K>E No ClinGen
gnomAD
rs1225866719
CA386254695
217 H>L No ClinGen
gnomAD
rs749123222
CA6741755
218 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1336885951
CA386254699
218 P>S No ClinGen
TOPMed
CA386254713
rs1490242538
220 K>E No ClinGen
gnomAD
rs1382058797
CA386254723
221 V>A No ClinGen
TOPMed
CA386254726
rs1220589083
222 E>Q No ClinGen
gnomAD
rs1219252817
CA386254739
224 V>I No ClinGen
Ensembl
TCGA novel 224 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6741756
rs770923470
226 Q>R No ClinGen
ExAC
rs1161436654
CA386254765
228 L>F No ClinGen
TOPMed
rs1042382250
CA242158314
228 L>P No ClinGen
TOPMed
TCGA novel 230 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386255104
rs1386105412
231 M>I No ClinGen
TOPMed
CA6741757
rs774357952
232 C>R No ClinGen
ExAC
gnomAD
CA6741758
rs528105491
233 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs866407245
CA242158320
237 N>T No ClinGen
Ensembl
rs201614926
CA6741759
238 M>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 238 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776616066
CA6741760
241 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762000750
CA6741761
242 C>G No ClinGen
ExAC
gnomAD
CA6741762
rs765467951
243 T>I No ClinGen
ExAC
gnomAD
CA386255275
rs1423572444
244 G>D No ClinGen
TOPMed
gnomAD
rs1423572444
CA386255279
244 G>V No ClinGen
TOPMed
gnomAD
rs763314193
CA6741764
245 Q>* No ClinGen
ExAC
gnomAD
rs753739452
CA242158421
246 A>S No ClinGen
TOPMed
gnomAD
rs753739452
CA386255355
246 A>T No ClinGen
TOPMed
gnomAD
CA6741778
rs771952656
252 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6741777
rs771952656
252 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6741779
rs372093743
252 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769938158
CA6741781
253 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA242158436
rs965537886
258 T>A No ClinGen
TOPMed
CA6741782
rs551412332
259 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA386255525
rs1249653730
259 E>D No ClinGen
gnomAD
CA6741783
rs771327304
260 T>A No ClinGen
ExAC
gnomAD
rs774622092
CA6741784
260 T>K No ClinGen
ExAC
gnomAD
TCGA novel 261 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1258645092
CA386255617
263 Q>H No ClinGen
TOPMed
gnomAD
CA242158444
rs890775309
265 P>Q No ClinGen
gnomAD
CA6741786
rs767936184
266 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1192111573
CA386255671
267 M>I No ClinGen
gnomAD
rs1423999324
CA386255667
267 M>T No ClinGen
gnomAD
rs994342175
CA242158450
268 L>V No ClinGen
TOPMed
rs760272496
CA6741788
270 G>E No ClinGen
ExAC
gnomAD
rs752186235
CA6741787
270 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375265829
CA6741789
272 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741792
rs367568587
275 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386255801
rs1441223197
276 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6741795
rs758317481
280 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1293777974
CA386255868
281 V>L No ClinGen
gnomAD
rs139257599
CA6741796
282 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs777900025
CA6741799
283 Y>F No ClinGen
ExAC
gnomAD
CA386255901
rs749485098
284 I>L No ClinGen
ExAC
gnomAD
CA6741800
rs749485098
284 I>V No ClinGen
ExAC
gnomAD
rs1238653778
CA386255939
287 E>K No ClinGen
TOPMed
rs774733708
CA6741802
288 H>R No ClinGen
ExAC
gnomAD
rs771077454
CA6741801
288 H>Y No ClinGen
ExAC
gnomAD
rs1204130358
CA386255971
289 F>L No ClinGen
TOPMed
gnomAD
rs1204130358
CA386255969
289 F>V No ClinGen
TOPMed
gnomAD
CA386255989
rs1259244073
290 G>D No ClinGen
gnomAD
CA386255992
rs1259244073
290 G>V No ClinGen
gnomAD
rs759820954
CA6741803
291 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1286560927
CA386256009
292 F>V No ClinGen
TOPMed
CA6741804
rs772569765
294 E>* No ClinGen
ExAC
gnomAD
rs993004530
CA242158487
295 C>R No ClinGen
TOPMed
CA386256095
rs776125449
CA6741805
297 Q>H No ClinGen
ExAC
gnomAD
CA6741825
rs769309900
298 E>G No ClinGen
ExAC
gnomAD
rs1271571058
CA606692801
299 S>* No ClinGen
gnomAD
CA6741826
rs146584077
299 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386256179
rs146584077
299 S>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386256204
rs1411080564
301 L>W No ClinGen
TOPMed
CA6741829
rs772729936
COSM3792091
302 D>N Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA242158743
rs1010866471
302 D>V No ClinGen
TOPMed
gnomAD
rs369745646
CA242158745
304 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs1436601083
CA386256250
305 T>A No ClinGen
gnomAD
CA386256253
rs765166437
305 T>I No ClinGen
TOPMed
gnomAD
CA242158748
rs765166437
305 T>R No ClinGen
TOPMed
gnomAD
CA386256287
rs1240400613
308 T>A No ClinGen
gnomAD
CA242158752
rs975985411
310 T>S No ClinGen
TOPMed
rs1182038631
CA386256357
311 N>K No ClinGen
gnomAD
rs765360190
CA242158757
314 E>D No ClinGen
Ensembl
CA6741832
rs751410004
314 E>K No ClinGen
ExAC
gnomAD
rs754866885
CA6741833
318 Q>E No ClinGen
ExAC
gnomAD
CA386256500
rs1223167575
319 I>F No ClinGen
gnomAD
CA6741834
rs767443404
319 I>M No ClinGen
ExAC
rs148365055
CA6741836
320 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148365055
CA6741835
320 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386256601
rs951390222
324 E>D No ClinGen
TOPMed
gnomAD
rs746045285
CA6741838
325 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs780516465
CA386256677
328 I>R No ClinGen
ExAC
TOPMed
gnomAD
CA6741840
rs780516465
328 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA386256684
rs1186236763
329 L>F No ClinGen
TOPMed
gnomAD
rs769219972
CA6741842
332 H>D No ClinGen
ExAC
gnomAD
rs982879239
CA242158778
332 H>R No ClinGen
TOPMed
gnomAD
rs777291998
CA6741843
333 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 334 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141602307
CA242158783
334 S>R No ClinGen
ESP
TOPMed
CA386256789
rs1347771535
334 S>R No ClinGen
TOPMed
rs769184944
CA386256842
338 I>R No ClinGen
ExAC
gnomAD
CA6741845
rs769184944
338 I>T No ClinGen
ExAC
gnomAD
rs75620118
CA6741847
339 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75620118
CA6741846
RCV000963707
339 P>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs373233138
CA6741848
340 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386256875
rs1229722695
341 P>S No ClinGen
gnomAD
CA6741850
rs759335513
342 A>T No ClinGen
ExAC
gnomAD
rs201873038
CA6741852
343 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6741854
rs765207753
344 V>A No ClinGen
ExAC
gnomAD
CA6741853
rs138400123
344 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741855
rs750538032
345 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA386257005
rs1433151106
348 L>V No ClinGen
Ensembl
rs764123747
CA6741874
349 S>A No ClinGen
ExAC
gnomAD
CA386257022
rs952491692
349 S>C No ClinGen
gnomAD
CA242158841
rs952491692
349 S>F No ClinGen
gnomAD
CA6741875
rs750404350
351 T>A No ClinGen
ExAC
gnomAD
rs544207946
CA6741876
351 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6741878
rs751829217
352 L>P No ClinGen
ExAC
gnomAD
rs755294188
CA6741880
353 Q>H No ClinGen
ExAC
rs1436726138
CA386257060
353 Q>K No ClinGen
TOPMed
CA386257068
rs1344265931
353 Q>R No ClinGen
gnomAD
rs753131749
CA6741881
354 V>L No ClinGen
ExAC
gnomAD
rs756543556
CA6741882
355 A>V No ClinGen
ExAC
gnomAD
CA242158858
rs142738390
357 L>P No ClinGen
ESP
TOPMed
CA242158861
rs142738390
357 L>R No ClinGen
ESP
TOPMed
rs1340664116
CA386257131
358 S>F No ClinGen
gnomAD
CA6741884
rs139573850
359 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386257138
rs1281942323
359 T>S No ClinGen
gnomAD
CA386257167
rs1283767968
361 C>F No ClinGen
gnomAD
CA242158868
rs1007380576
362 W>R No ClinGen
TOPMed
rs778432035
CA6741886
365 L>F No ClinGen
ExAC
gnomAD
CA242158874
rs981984342
365 L>P No ClinGen
Ensembl
rs1593419019
CA386257249
367 D>A No ClinGen
Ensembl
rs771777235
CA6741888
367 D>E No ClinGen
ExAC
gnomAD
rs1263984046
CA386257246
367 D>N No ClinGen
gnomAD
CA386257259
rs1198517590
368 V>L No ClinGen
gnomAD
CA6741889
rs775106501
370 S>P No ClinGen
ExAC
gnomAD
CA386257277
rs1192033747
371 A>T No ClinGen
TOPMed
rs1478861399
CA386257297
374 L>Q No ClinGen
gnomAD
rs760523413
CA6741890
375 G>D No ClinGen
ExAC
gnomAD
RCV000879078
rs79571582
CA6741891
377 N>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386257328
rs1417482180
379 S>A No ClinGen
gnomAD
CA6741892
rs750820584
381 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA386257349
rs1337455632
382 E>A No ClinGen
gnomAD
rs1231649849
CA386257352
383 T>P No ClinGen
TOPMed
rs751741275
CA6741895
385 I>V No ClinGen
ExAC
gnomAD
TCGA novel 386 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386257370
rs1205088713
386 K>Q No ClinGen
gnomAD
CA6741896
rs759786580
386 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA386257382
rs1219517792
387 E>G No ClinGen
TOPMed
rs1279304110
CA386257389
388 T>S No ClinGen
gnomAD
rs756483939
CA6741899
389 I>T No ClinGen
ExAC
gnomAD
CA6741898
rs151242689
389 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764430776
CA6741900
390 E>K No ClinGen
ExAC
gnomAD
rs1210294486
CA386257445
394 E>D No ClinGen
gnomAD
CA386257457
rs1272203105
396 R>T No ClinGen
TOPMed
gnomAD
TCGA novel 400 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201186982
CA6741920
400 R>H Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 400 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238612281
CA386257494
401 L>S No ClinGen
gnomAD
CA6741922
rs765765635
404 S>C No ClinGen
ExAC
gnomAD
rs1012291517
CA242159221
404 S>R No ClinGen
Ensembl
CA386257533
rs1472844098
407 E>K No ClinGen
gnomAD
TCGA novel 408 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1398770595
CA386257549
409 M>L No ClinGen
TOPMed
gnomAD
rs1031769402
CA242159228
411 A>S No ClinGen
TOPMed
CA242159230
rs868254939
411 A>V No ClinGen
gnomAD
CA6741925
rs779469626
412 M>T No ClinGen
ExAC
gnomAD
TCGA novel 417 Q>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746667615
CA6741926
417 Q>K No ClinGen
ExAC
gnomAD
rs754588793
CA6741948
421 P>A No ClinGen
ExAC
gnomAD
CA6741949
rs144211284
424 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242159926
rs994431858
426 Y>C No ClinGen
Ensembl
rs200302469
CA6741950
427 I>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 430 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386258716
rs1178657423
432 L>I No ClinGen
TOPMed
gnomAD
rs146565929
CA6741951
433 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1453314070
CA386258746
434 D>V No ClinGen
gnomAD
rs1396311455
CA386258754
435 D>N No ClinGen
TOPMed
gnomAD
rs1362473601
CA386258775
437 V>I No ClinGen
gnomAD
rs1298681487
CA386258801
440 D>V No ClinGen
gnomAD
CA386258810
rs1452538775
441 E>D No ClinGen
gnomAD
rs747091698
CA6741956
457 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA6741958
rs141301122
458 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242159935
rs141301122
458 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741959
rs762062106
460 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA386259004
rs762062106
460 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA6741961
rs773504931
461 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773504931
CA386259015
461 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs766797905
CA6741963
463 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6741964
rs751036728
467 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 467 Y>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758986812
CA6741965
468 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1382425150
CA386259127
470 V>I No ClinGen
gnomAD
CA6741966
rs145108682
473 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741967
rs145108682
473 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741968
rs145108682
473 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741970
rs183927312
474 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386259206
rs1295237257
476 V>L No ClinGen
gnomAD
CA6741972
rs374596406
477 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6741984
rs145833993
478 F>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201256747
CA6741985
479 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
CA386259802
rs1565787549
480 I>R No ClinGen
Ensembl
CA386259814
COSM1288875
rs1565787551
482 Q>* Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA6741987
rs775157725
482 Q>H No ClinGen
ExAC
gnomAD
rs149002619
CA6741986
482 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386259829
rs1376259112
484 K>T No ClinGen
gnomAD
rs200955631
CA6741988
485 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386259854
rs1311588317
488 K>E No ClinGen
TOPMed
CA386259858
rs1317813459
488 K>N No ClinGen
gnomAD
rs1217408485
CA386259867
490 R>G No ClinGen
gnomAD
TCGA novel 490 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143832042
CA6741990
490 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6741992
rs765120524
492 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA242162018
rs1056411266
492 E>V No ClinGen
gnomAD
CA386259888
rs1484251317
493 Q>* No ClinGen
gnomAD
CA6741993
rs750322929
493 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs535772659
CA6741994
494 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs555637284
CA6741995
494 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1466704062
CA386259900
495 P>A No ClinGen
TOPMed
gnomAD
CA6741998
rs777877274
498 D>V No ClinGen
ExAC
gnomAD
rs1357050671
CA386259926
499 H>D No ClinGen
gnomAD
CA6741999
rs749569519
499 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA6742003
rs4764643
VAR_022162
502 S>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4764643
CA6742004
502 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742002
rs746321739
502 S>P No ClinGen
ExAC
gnomAD
rs760286700
CA6742005
503 I>L No ClinGen
ExAC
gnomAD
TCGA novel 503 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242162071
rs1000017917
505 K>N No ClinGen
Ensembl
CA6742007
rs776116771
507 P>L No ClinGen
ExAC
gnomAD
CA6742006
rs763709062
507 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA6742008
rs761592473
508 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6742009
rs764927303
509 N>H No ClinGen
ExAC
gnomAD
TCGA novel 511 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242162083
rs530927598
519 W>L No ClinGen
Ensembl
CA6742010
rs758248732
520 A>T No ClinGen
ExAC
gnomAD
CA6742013
rs139131985
523 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386260120
rs1444885762
524 V>A No ClinGen
Ensembl
CA6742015
rs144043776
524 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs954562180
CA242162121
526 P>H No ClinGen
TOPMed
gnomAD
rs954562180
CA386260149
526 P>L No ClinGen
TOPMed
gnomAD
rs983657120
CA242162128
527 H>P No ClinGen
TOPMed
rs983657120
CA386260160
527 H>R No ClinGen
TOPMed
rs997502771
CA242162131
528 I>V No ClinGen
Ensembl
rs919911727
CA242162221
531 L>F No ClinGen
TOPMed
CA6742033
rs764027603
535 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1405274243
CA386260305
536 V>L No ClinGen
gnomAD
CA6742035
rs757384332
538 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs753959114
CA6742034
538 P>T No ClinGen
ExAC
gnomAD
rs1434492415
CA386260350
539 L>P No ClinGen
TOPMed
gnomAD
CA6742038
rs373930284
540 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742039
rs780632896
541 T>A No ClinGen
ExAC
gnomAD
rs137961955
CA6742041
542 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1453063359
CA386260396
543 F>C No ClinGen
gnomAD
TCGA novel 543 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386260447
rs1214065627
547 L>R No ClinGen
gnomAD
CA6742043
rs747723866
548 F>L No ClinGen
ExAC
gnomAD
CA6742045
CA242162257
rs769278795
549 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA6742046
rs762629718
549 M>R No ClinGen
ExAC
gnomAD
CA6742044
rs769278795
549 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA386260464
rs1363815189
550 T>N No ClinGen
gnomAD
rs1472182506
CA386260467
551 V>I No ClinGen
TOPMed
gnomAD
CA6742047
rs150558479
552 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742048
rs774149143
553 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs376003744
CA6742049
554 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 555 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386260493
rs1360515213
555 S>G No ClinGen
TOPMed
CA6742050
rs767524170
556 F>L No ClinGen
ExAC
gnomAD
TCGA novel 557 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753815915
CA6742051
558 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA386260707
rs1277497687
561 L>S No ClinGen
gnomAD
rs774094260
CA6742066
561 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs771813278
CA6742068
562 F>L No ClinGen
ExAC
gnomAD
rs1343814165
CA386260738
563 V>A No ClinGen
gnomAD
CA386260729
rs1251724305
563 V>I No ClinGen
gnomAD
CA386260760
rs1198430173
565 C>Y No ClinGen
gnomAD
CA242163413
rs1040408893
566 Q>E No ClinGen
TOPMed
gnomAD
rs775468260
CA6742069
567 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1485715018
CA386260797
568 V>I No ClinGen
gnomAD
TCGA novel 569 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742071
rs765394903
570 T>I No ClinGen
ExAC
gnomAD
TCGA novel 570 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742072
rs773438739
571 L>V No ClinGen
ExAC
gnomAD
rs751820486
CA6742077
576 E>D No ClinGen
ExAC
gnomAD
CA386260935
rs1164472939
578 S>Y No ClinGen
TOPMed
rs370416680
CA6742078
582 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742080
rs138606783
588 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138606783
CA6742081
588 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742082
rs748832576
588 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6742083
rs748832576
588 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs149303591
CA6742084
590 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6742085
rs745548972
593 V>I No ClinGen
ExAC
gnomAD
CA6742108
rs768665973
595 T>P No ClinGen
ExAC
gnomAD
rs762533790
CA242165178
597 P>R No ClinGen
Ensembl
rs1457481677
CA386261621
598 L>P No ClinGen
gnomAD
rs1254065821
CA386261618
598 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 600 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1410168260
CA386261642
600 P>S No ClinGen
gnomAD
CA242165194
rs375432168
602 V>A No ClinGen
ESP
rs1464041545
CA386261661
602 V>M No ClinGen
TOPMed
rs774350834
CA6742112
604 L>Q No ClinGen
ExAC
gnomAD
CA6742114
rs772218043
608 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA386261743
rs1395015331
609 Y>C No ClinGen
TOPMed
gnomAD
rs1185621171
CA386261763
610 Y>C No ClinGen
Ensembl
rs775877103
CA6742115
611 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs1272110651
CA386261795
612 R>S No ClinGen
TOPMed
CA6742116
rs761009435
618 C>Y No ClinGen
ExAC
gnomAD
rs1196289076
CA386261877
619 K>Q No ClinGen
TOPMed
CA386261898
rs1341445648
620 G>A No ClinGen
TOPMed
rs764486594
CA386261904
621 P>A No ClinGen
ExAC
gnomAD
rs764486594
CA6742117
621 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1235750427
CA386261956
625 E>G No ClinGen
gnomAD
rs754339350
CA6742118
626 A>S No ClinGen
ExAC
gnomAD
CA386261998
TCGA novel
rs1222403264
628 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
CA386261994
rs1317688470
628 M>T No ClinGen
gnomAD
CA6742119
rs762365167
629 E>Q No ClinGen
ExAC
gnomAD
rs1323734878
CA386262028
630 L>I No ClinGen
TOPMed
rs764748303
CA6742120
631 F>I No ClinGen
ExAC
gnomAD
CA6742121
rs749908188
633 K>R No ClinGen
ExAC
gnomAD
CA386262156
rs1254245581
636 A>V No ClinGen
gnomAD
rs1167023929
CA386262240
640 T>I No ClinGen
gnomAD
rs77834422
CA6742123
641 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1335547641
CA386262249
641 G>C No ClinGen
TOPMed
rs751305487
CA6742124
642 V>I No ClinGen
ExAC
TOPMed
CA242165262
rs144582951
643 S>F No ClinGen
ESP
TOPMed
gnomAD
rs1421477470
CA386262914
645 I>F No ClinGen
gnomAD
rs765693560
CA6742138
645 I>S No ClinGen
ExAC
gnomAD
rs762347272
CA6742140
646 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs762347272
CA6742141
646 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749897356
CA242166093
646 R>W No ClinGen
ExAC
gnomAD
TCGA novel 650 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742144
rs369024114
650 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386262947
rs1565789287
651 R>K No ClinGen
Ensembl
rs1398765387
CA386262951
651 R>S No ClinGen
TOPMed
gnomAD
rs144178978
CA6742145
653 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742147
rs777552384
659 Q>H No ClinGen
ExAC
gnomAD
rs756033604
CA6742146
659 Q>R No ClinGen
ExAC
gnomAD
CA6742148
rs749292591
664 M>V No ClinGen
ExAC
gnomAD
rs758407390
CA6742149
665 E>K No ClinGen
ExAC
gnomAD
CA6742169
rs757231752
666 D>G No ClinGen
ExAC
gnomAD
CA386263063
rs757231752
666 D>V No ClinGen
ExAC
gnomAD
CA386263102
rs1405337257
672 R>Q No ClinGen
gnomAD
COSM242210
rs77466434
CA6742171
672 R>W prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1324301459
CA386263110
673 Q>L No ClinGen
gnomAD
rs865882533
CA242167421
674 S>F No ClinGen
Ensembl
CA242167422
rs78531646
677 A>S No ClinGen
Ensembl
CA6742173
rs781367733
678 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA6742174
rs781367733
678 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs142367906
CA6742175
679 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742176
rs373556740
680 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749696639
CA6742177
680 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6742178
rs749696639
680 R>L No ClinGen
ExAC
gnomAD
rs1000291507
CA242167471
682 A>E No ClinGen
TOPMed
TCGA novel 684 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs151294243
CA242167479
685 V>F No ClinGen
ESP
TOPMed
rs1280250819
CA386263251
686 P>S No ClinGen
gnomAD
rs773955980
CA6742179
688 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1396009018
CA386263290
689 V>A No ClinGen
TOPMed
rs1227729036
CA386263283
689 V>M No ClinGen
gnomAD
CA386263302
rs1270973004
690 N>S No ClinGen
gnomAD
CA386263314
rs1336674781
691 D>Y No ClinGen
gnomAD
CA6742181
rs767178349
692 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1237206733
CA386263330
692 Y>D No ClinGen
gnomAD
rs775006012
CA6742182
693 R>* No ClinGen
ExAC
gnomAD
rs77005911
CA6742183
693 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 696 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761700394
CA6742186
698 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6742185
rs753671569
698 H>R No ClinGen
ExAC
gnomAD
CA386263490
rs1394561622
704 H>R No ClinGen
gnomAD
rs1411928715
CA386263505
705 D>V No ClinGen
TOPMed
gnomAD
COSM933919
CA6742187
rs765182802
707 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386263546
COSM3792092
rs1414015424
708 Q>H Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA386263552
rs1291395369
709 T>A No ClinGen
gnomAD
CA242167553
rs1009150951
710 A>S No ClinGen
TOPMed
rs1357072688
CA386263575
711 V>I No ClinGen
gnomAD
CA6742188
rs750408958
712 P>L No ClinGen
ExAC
gnomAD
CA6742189
rs755017500
713 D>A No ClinGen
ExAC
gnomAD
rs962327787
CA242167567
713 D>E No ClinGen
TOPMed
CA6742191
rs781316396
715 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs781316396
CA6742190
715 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs370762874
CA6742193
718 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs563341513
CA242168834
719 V>A No ClinGen
Ensembl
CA6742211
rs756247390
719 V>L No ClinGen
ExAC
gnomAD
CA6742212
rs150039308
720 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386264086
rs1310961013
721 L>H No ClinGen
TOPMed
COSM1358132
CA386264099
rs1194106783
722 R>C Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM933920
rs1377258496
CA386264102
722 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1175003391
CA386264124
723 Y>C No ClinGen
TOPMed
CA386264160
rs1452856127
725 L>* No ClinGen
gnomAD
CA6742214
rs199642959
726 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742216
rs746323616
727 M>V No ClinGen
ExAC
gnomAD
CA6742217
rs772710430
728 L>P No ClinGen
ExAC
gnomAD
rs371232504
CA6742219
729 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768101644
CA6742220
730 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6742221
rs376351923
733 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242168872
COSM2063225
rs376351923
733 S>N central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1593426921
CA386264312
734 A>T No ClinGen
Ensembl
rs761518561
CA6742222
736 W>* No ClinGen
ExAC
gnomAD
TCGA novel 738 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742223
rs368178402
740 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1593426937
CA386264446
741 E>A No ClinGen
Ensembl
CA386264438
rs372446066
741 E>K No ClinGen
ESP
ExAC
gnomAD
CA6742224
rs372446066
741 E>Q No ClinGen
ESP
ExAC
gnomAD
rs1280354014
CA386264484
743 I>K No ClinGen
TOPMed
rs1247490575
CA386264490
743 I>M No ClinGen
gnomAD
rs1350119529
CA386264480
743 I>V No ClinGen
TOPMed
CA386264494
rs1238907073
744 S>G No ClinGen
gnomAD
CA386264497
rs1238907073
744 S>R No ClinGen
gnomAD
rs772947510
CA6742245
746 H>R No ClinGen
ExAC
rs769437203
CA6742244
746 H>Y No ClinGen
ExAC
gnomAD
rs569253169
CA242170903
748 H>L No ClinGen
TOPMed
CA6742246
rs749099686
748 H>N No ClinGen
ExAC
gnomAD
CA6742248
rs548791318
749 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA242170942
rs921424681
750 M>K No ClinGen
TOPMed
rs947336100
CA242170935
750 M>V No ClinGen
TOPMed
gnomAD
CA6742249
rs759453176
752 N>K No ClinGen
ExAC
gnomAD
rs1392415359
CA386264813
755 F>I No ClinGen
gnomAD
CA6742251
rs142042282
760 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771476091
CA242170983
762 H>R No ClinGen
TOPMed
gnomAD
CA242170981
rs1041240779
762 H>Y No ClinGen
Ensembl
CA386264875
rs1287605356
763 L>P No ClinGen
TOPMed
rs765579418
CA6742253
763 L>V No ClinGen
ExAC
gnomAD
CA386264881
rs1226808409
764 E>G No ClinGen
gnomAD
rs752091527
CA6742257
768 T>A No ClinGen
ExAC
gnomAD
CA6742258
COSM199551
rs755453169
768 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386264912
rs1474206433
769 H>P No ClinGen
gnomAD
rs1206095532
CA386264953
773 E>* No ClinGen
TOPMed
rs753248883
CA6742278
773 E>V No ClinGen
ExAC
gnomAD
COSM933922
rs934531426
CA242171322
775 Q>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs755587225
CA6742279
776 N>I No ClinGen
ExAC
gnomAD
rs755587225
CA386264974
776 N>S No ClinGen
ExAC
gnomAD
CA386264973
rs755587225
776 N>T No ClinGen
ExAC
gnomAD
rs1440346893
CA386264977
777 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 778 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 778 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291035437
CA386265007
780 D>E No ClinGen
gnomAD
rs777325421
CA6742281
781 E>D No ClinGen
ExAC
gnomAD
rs1362911591
CA386265008
781 E>K No ClinGen
gnomAD
CA242171350
COSM1706100
rs1040920690
783 S>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
CA386265026
rs1040920690
783 S>Y No ClinGen
TOPMed
TCGA novel 784 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753475253
CA6742282
784 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs753475253
CA6742283
784 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs778733436
CA6742284
786 D>G No ClinGen
ExAC
gnomAD
CA386265050
rs1389337278
787 E>G No ClinGen
gnomAD
rs1279277357
CA386265053
788 S>R No ClinGen
gnomAD
CA386265067
rs1213348726
789 W>* No ClinGen
gnomAD
rs780109691
CA6742287
790 E>K No ClinGen
ExAC
gnomAD
CA386265082
rs1465059609
791 Q>L No ClinGen
gnomAD
rs1022302681
CA242171401
793 Q>E No ClinGen
TOPMed
CA6742288
rs747012443
793 Q>H No ClinGen
ExAC
gnomAD
CA386265105
rs1299984313
795 G>R No ClinGen
TOPMed
CA242171405
rs142589004
796 D>G No ClinGen
1000Genomes
gnomAD
rs1455209571
CA386265126
798 G>* No ClinGen
gnomAD
TCGA novel 798 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742290
rs773438686
800 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA6742291
rs183129088
801 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386265183
rs1161712640
806 A>P No ClinGen
TOPMed
gnomAD
CA386265184
rs1161712640
806 A>S No ClinGen
TOPMed
gnomAD
CA386265181
rs1161712640
806 A>T No ClinGen
TOPMed
gnomAD
rs1389856320
CA386265329
814 R>G No ClinGen
gnomAD
TCGA novel 814 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143064975
CA6742292
814 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742293
rs774725398
816 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs759796303
CA6742294
820 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA386265512
rs1565790969
822 F>L No ClinGen
Ensembl
rs767907847
CA6742295
822 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs767907847
CA6742296
822 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs148224454
CA6742297
827 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386265612
rs1329641212
COSM933925
829 T>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA6742300
rs756889679
832 P>A No ClinGen
ExAC
gnomAD
CA386265655
rs1462895524
832 P>L No ClinGen
TOPMed
TCGA novel 836 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750134146
CA6742302
838 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778411929
CA6742301
838 R>W No ClinGen
ExAC
gnomAD
CA6742303
rs758267087
840 R>G No ClinGen
ExAC
gnomAD
CA6742304
rs780049886
841 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386265777
rs1356368141
843 S>F No ClinGen
gnomAD
CA242171567
rs866980459
844 P>L No ClinGen
Ensembl
rs746883525
CA6742305
844 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 844 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386265800
rs1406242380
847 L>S No ClinGen
gnomAD
TCGA novel 850 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742309
rs141236784
851 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141236784
CA6742308
851 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs528223192
CA6742326
852 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386266388
rs1308753600
852 N>S No ClinGen
gnomAD
rs1270999205
CA386266393
COSM415675
853 E>Q Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs748155809
CA6742327
854 Y>C No ClinGen
ExAC
gnomAD
rs148068961
CA6742328
856 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386266417
rs1291147923
856 P>S No ClinGen
gnomAD
rs1301043812
CA386266420
857 A>T No ClinGen
TOPMed
CA6742329
rs779105428
857 A>V No ClinGen
ExAC
gnomAD
CA6742330
rs746025682
864 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs746025682
CA6742331
864 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs775784330
CA6742332
865 Q>H No ClinGen
ExAC
gnomAD
rs776008041
CA242175991
866 D>N No ClinGen
Ensembl
CA386266525
rs1274826256
866 D>V No ClinGen
gnomAD
rs759190580
CA6742334
868 R>Q No ClinGen
ExAC
gnomAD
rs747352423
CA6742333
868 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs150773203
CA6742335
869 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742336
rs762442450
871 G>V No ClinGen
ExAC
gnomAD
rs1192976554
CA386266596
872 K>R No ClinGen
gnomAD
CA386266612
rs1371519214
873 G>E No ClinGen
gnomAD
rs1371519214
CA386266614
873 G>V No ClinGen
gnomAD
rs1476549009
CA386266622
874 M>L No ClinGen
gnomAD
rs764592255
CA6742337
874 M>T No ClinGen
ExAC
CA242176021
rs867431510
875 V>A No ClinGen
TOPMed
gnomAD
TCGA novel 876 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386266671
rs1428976672
878 E>Q No ClinGen
gnomAD
rs1593430345
CA386266686
879 I>T No ClinGen
Ensembl
CA6742339
rs142705721
880 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751305479
CA6742341
882 E>D No ClinGen
ExAC
gnomAD
rs766147135
CA6742340
882 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754788380
CA6742342
884 A>V No ClinGen
ExAC
gnomAD
rs1332510569
CA386266763
885 A>G No ClinGen
TOPMed
gnomAD
rs201214965
CA6742346
885 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386266760
rs201214965
885 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6742345
rs201214965
885 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6742348
rs758522706
888 D>G No ClinGen
ExAC
gnomAD
CA6742347
rs745970567
888 D>H No ClinGen
ExAC
gnomAD
rs1346532020
CA386266804
889 E>K No ClinGen
gnomAD
rs894595326
CA242176079
892 E>K No ClinGen
Ensembl
rs768204318
CA242176086
894 E>G No ClinGen
Ensembl
CA6742349
rs780222059
895 A>V No ClinGen
ExAC
gnomAD
rs768892597
CA6742351
896 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs781632334
CA6742352
897 P>L No ClinGen
ExAC
gnomAD
rs1189460510
CA386266926
898 Q>* No ClinGen
gnomAD
rs772796121
CA6742355
899 D>G No ClinGen
ExAC
gnomAD
rs1277920756
CA386266977
901 S>Y No ClinGen
TOPMed
rs200243638
CA386266998
903 Q>P No ClinGen
1000Genomes
ExAC
gnomAD
rs200243638
CA6742356
903 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA6742357
rs770606237
905 K>E No ClinGen
ExAC
gnomAD
CA386267027
rs1565792287
905 K>R No ClinGen
Ensembl
rs774141567
CA6742358
907 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6742360
rs767156921
908 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6742362
rs760481676
909 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs752569880
CA6742361
909 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA386267090
rs1369848970
910 A>G No ClinGen
gnomAD
rs1302854275
CA386267113
912 A>G No ClinGen
gnomAD
CA386267107
rs1373306271
912 A>T No ClinGen
TOPMed
CA386267414
rs1390832161
913 K>N No ClinGen
gnomAD
CA386267126
rs1332160486
913 K>R No ClinGen
gnomAD
COSM933928
CA6742373
CA386267446
rs749876137
915 L>F Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs999865991
CA242177644
917 A>P No ClinGen
TOPMed
gnomAD
CA6742374
rs140037353
917 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868699578
CA242177651
918 H>Y No ClinGen
TOPMed
gnomAD
rs771779384
CA6742377
920 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1224071947
CA386267501
920 Q>K No ClinGen
gnomAD
CA6742376
rs759072687
920 Q>P No ClinGen
ExAC
gnomAD
CA6742379
rs376164687
921 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201830409
CA6742381
925 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1565792754
CA386267559
927 N>S No ClinGen
Ensembl
CA386267569
rs761755493
929 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6742383
rs370328018
929 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370328018
CA6742384
929 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742382
rs761755493
929 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs752898415
CA6742387
937 L>P No ClinGen
ExAC
gnomAD
CA242177782
rs867868381
937 L>V No ClinGen
Ensembl
CA6742388
rs756496096
938 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA6742389
rs778339439
939 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386267671
rs778339439
939 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6742390
rs200584245
941 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386267725
rs1411037542
943 Q>* No ClinGen
gnomAD
CA6742407
rs754279286
945 L>V No ClinGen
ExAC
gnomAD
CA386267894
rs1450610436
948 Q>E No ClinGen
gnomAD
CA242178946
rs987315612
950 Q>R No ClinGen
TOPMed
rs556321414
CA6742409
951 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA6742410
rs746429618
952 V>A No ClinGen
ExAC
gnomAD
CA386268008
rs1380755538
956 T>A No ClinGen
gnomAD
rs757916667
CA6742411
958 D>G No ClinGen
ExAC
gnomAD
rs1434048136
CA386268056
960 I>V No ClinGen
TOPMed
CA386268070
rs1343003202
961 M>I No ClinGen
gnomAD
rs1228992762
CA386268081
963 Y>C No ClinGen
TOPMed
gnomAD
CA6742413
rs748782603
964 K>E No ClinGen
ExAC
gnomAD
TCGA novel 964 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386268096
rs1593431887
965 H>R No ClinGen
Ensembl
CA6742415
rs200779998
966 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742414
rs768331170
966 P>S No ClinGen
ExAC
gnomAD
rs769612197
CA6742417
967 H>R No ClinGen
ExAC
gnomAD
rs747914213
CA6742416
967 H>Y No ClinGen
ExAC
gnomAD
CA6742418
rs773192305
968 V>I No ClinGen
ExAC
gnomAD
CA6742420
rs767575263
969 L>I No ClinGen
ExAC
gnomAD
CA6742421
rs775434089
970 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs113800459
CA242179019
972 R>W No ClinGen
Ensembl
CA386268156
rs1245685411
973 E>D No ClinGen
TOPMed
gnomAD
rs1351691341
CA386268163
974 N>I No ClinGen
gnomAD
rs749180327
CA6742438
976 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs749180327
CA386268173
976 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA386268177
rs1593432110
976 Q>R No ClinGen
Ensembl
rs1349853976
CA386268184
977 R>S No ClinGen
gnomAD
rs899621964
CA242179363
977 R>W No ClinGen
gnomAD
rs1593432119
CA386268212
981 D>V No ClinGen
Ensembl
CA6742439
rs770803725
982 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA6742440
rs374755767
983 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1287074815
CA386268259
987 E>D No ClinGen
gnomAD
rs768923842
CA6742442
988 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA386268266
rs1221724463
989 V>M No ClinGen
TOPMed
gnomAD
CA386268276
rs1482398063
990 H>R No ClinGen
gnomAD
TCGA novel 991 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242179387
rs1026662161
993 I>V No ClinGen
Ensembl
CA6742444
rs570614154
994 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs765574330
CA6742445
995 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA386268318
rs148536386
996 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742446
rs750787167
996 D>G No ClinGen
ExAC
gnomAD
CA242179406
rs993857773
996 D>Y No ClinGen
TOPMed
CA386268338
rs1208114978
999 V>A No ClinGen
TOPMed
rs539396900
CA6742448
999 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs142899095
CA6742450
1003 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780734604
CA6742451
1004 H>R No ClinGen
ExAC
gnomAD
rs1034418436
CA242179453
1005 R>* No ClinGen
TOPMed
CA6742452
rs367580506
1005 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1309546233
CA386268383
1007 D>G No ClinGen
TOPMed
gnomAD
rs1309546233
CA386268384
1007 D>V No ClinGen
TOPMed
gnomAD
CA242179462
rs199725568
1011 I>V No ClinGen
1000Genomes
TOPMed
rs749058167
CA6742455
1013 M>I No ClinGen
ExAC
gnomAD
rs1282040426
CA386268429
1014 R>T No ClinGen
gnomAD
CA6742470
rs766829244
CA386268835
1016 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs577310747
CA6742472
1017 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs774823050
CA6742471
1017 Y>H No ClinGen
ExAC
gnomAD
rs1593434278
CA386269334
COSM1677282
1019 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA242183251
rs376327544
1019 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6742474
rs376327544
1019 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1230613261
CA386269375
1022 N>Y No ClinGen
gnomAD
CA386269400
rs1275951265
1023 K>N No ClinGen
gnomAD
rs184835287
CA6742476
1025 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386269431
rs1199092478
1027 K>E No ClinGen
TOPMed
gnomAD
CA6742477
rs753594919
1028 T>S No ClinGen
ExAC
TOPMed
rs1281244944
CA386269447
1028 T>S No ClinGen
gnomAD
rs756988988
CA6742478
1029 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA386269463
rs756988988
1029 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1416538703
CA386269468
1030 G>R No ClinGen
TOPMed
CA6742479
rs778864851
1033 A>V No ClinGen
ExAC
gnomAD
rs745736302
CA6742480
1037 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6742481
rs758445591
1037 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6742483
rs748156914
1038 M>V No ClinGen
ExAC
gnomAD
CA6742484
rs769953865
1039 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1412055124
CA386269527
1039 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs539567687
CA6742485
1040 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6742486
rs749579850
1041 V>I No ClinGen
ExAC
gnomAD
rs774700772
CA6742488
1043 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6742487
rs771140706
1043 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA242183310
rs968642068
1046 A>S No ClinGen
TOPMed
gnomAD
rs1313571654
CA386269564
1046 A>V No ClinGen
TOPMed
rs776025445
CA6742491
1047 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs760099420
CA6742492
1047 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1346173520
CA386269573
1048 T>I No ClinGen
gnomAD
CA6742493
COSM318279
rs763717393
1048 T>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 1049 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266437305
CA386269579
1049 Q>R No ClinGen
gnomAD
CA386269596
rs1209421135
1052 E>K No ClinGen
gnomAD
rs375521157
CA6742495
1053 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742496
rs765087996
1054 Q>H No ClinGen
ExAC
gnomAD
rs1379103744
CA386269622
1055 I>M No ClinGen
gnomAD
CA242183369
rs988484500
1055 I>V No ClinGen
gnomAD
CA386269629
rs1459826678
1056 F>L No ClinGen
TOPMed
rs954080236
CA242183370
1056 F>V No ClinGen
TOPMed
CA6742497
rs576184899
1058 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386269639
rs1478221812
1058 D>H No ClinGen
gnomAD
CA242183388
rs933891062
1061 F>S No ClinGen
Ensembl
rs747030153
CA6742500
1063 P>L No ClinGen
ExAC
gnomAD
CA242183401
rs752063895
1066 H>P No ClinGen
Ensembl
TCGA novel 1069 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1409759638
CA386269756
1073 H>R No ClinGen
gnomAD
rs754945143
CA6742518
1079 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA386269797
rs754945143
1079 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6742519
rs199951442
1081 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1220163644
CA386269806
1081 E>Q No ClinGen
gnomAD
CA6742520
rs375681505
1082 D>N No ClinGen
ESP
ExAC
gnomAD
CA6742522
rs376634646
1084 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742521
rs376634646
1084 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1247082410
CA386269836
1085 L>F No ClinGen
gnomAD
CA386269846
rs1266173274
1087 K>* No ClinGen
TOPMed
gnomAD
CA386269845
rs1266173274
1087 K>E No ClinGen
TOPMed
gnomAD
rs1204358919
COSM545774
CA386269856
1088 V>G lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs746147073
CA6742523
1088 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs746147073
CA386269852
1088 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs578226793
CA6742524
1089 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs780474146
CA6742525
1090 P>L No ClinGen
ExAC
gnomAD
CA242185137
rs1033692405
1092 G>S No ClinGen
TOPMed
COSM430157
CA386269877
rs1338509719
1092 G>V Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs552660501
CA6742527
1093 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1510355
CA6742529
rs142628447
1093 R>H lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs552660501
CA6742528
1093 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA242185169
rs755486538
1095 H>N No ClinGen
gnomAD
rs769498323
CA386269898
1096 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs769498323
CA6742530
1096 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA6742531
rs772982542
1096 G>V No ClinGen
ExAC
gnomAD
CA6742532
rs762704658
1097 I>M No ClinGen
ExAC
gnomAD
CA6742533
rs766018627
1098 L>F No ClinGen
ExAC
gnomAD
CA6742535
rs759340911
1101 L>F No ClinGen
ExAC
gnomAD
CA386269938
rs1408172557
1102 E>G No ClinGen
TOPMed
TCGA novel 1102 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386269948
rs1377234263
1103 I>M No ClinGen
gnomAD
rs1159950495
CA386269946
1103 I>T No ClinGen
TOPMed
rs12303732
CA242185192
1105 L>W No ClinGen
Ensembl
CA386269976
rs1398022972
1106 K>E No ClinGen
gnomAD
CA386269981
rs1565795352
1106 K>R No ClinGen
Ensembl
rs1364591236
CA386270043
1110 H>L No ClinGen
gnomAD
rs1226333526
CA386270066
1111 L>Q No ClinGen
gnomAD
rs1272345098
CA386270077
1112 I>S No ClinGen
gnomAD
TCGA novel 1112 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742538
rs757315993
1113 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs144955025
CA386270099
1113 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750578552
COSM286421
CA6742540
1114 A>T lung Variant assessed as Somatic; 4.623e-05 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs780234831
CA6742542
1115 Y>S No ClinGen
ExAC
gnomAD
CA386270134
rs974996772
1116 L>V No ClinGen
TOPMed
CA386270152
rs1186169759
1117 P>L No ClinGen
TOPMed
gnomAD
rs781721867
CA6742545
1119 I>V No ClinGen
ExAC
gnomAD
CA6742547
rs199815086
1123 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742546
rs199815086
1123 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1306594701
CA386270276
1124 L>F No ClinGen
TOPMed
gnomAD
rs748907134
CA6742549
1125 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs867223137
CA242185314
1126 M>T No ClinGen
TOPMed
rs1303671520
CA386270311
1126 M>V No ClinGen
gnomAD
rs1370266296
CA386270333
1127 T>A No ClinGen
gnomAD
rs1388225206
CA386270364
1128 A>V No ClinGen
gnomAD
COSM1322057
CA386270374
rs1355965089
1129 T>N ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA6742552
rs759344498
1130 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA386270410
rs1215092571
1132 H>R No ClinGen
TOPMed
gnomAD
CA242185383
rs908287297
1134 L>F No ClinGen
Ensembl
rs775349192
CA6742554
1134 L>P No ClinGen
ExAC
gnomAD
TCGA novel 1136 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs939701786
CA242185385
1136 Q>R No ClinGen
Ensembl
rs941358128
CA242185390
1137 R>* No ClinGen
TOPMed
gnomAD
CA242185418
rs757382700
1137 R>Q No ClinGen
Ensembl
rs1482388741
CA386271357
1140 I>M No ClinGen
gnomAD
CA6742568
rs774047938
1141 Q>R No ClinGen
ExAC
gnomAD
rs745522226
CA6742569
1142 L>M No ClinGen
ExAC
gnomAD
CA6742570
rs745522226
1142 L>V No ClinGen
ExAC
gnomAD
CA6742571
rs775297709
1144 F>I No ClinGen
ExAC
gnomAD
TCGA novel 1145 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742572
rs760557819
1147 P>L No ClinGen
ExAC
gnomAD
rs1183092145
CA386271399
1147 P>S No ClinGen
gnomAD
CA6742574
rs776593176
1148 L>F No ClinGen
ExAC
gnomAD
CA6742575
rs150090423
1153 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742577
rs372292737
1153 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742576
rs150090423
1153 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1352238080
CA386271449
1155 G>R No ClinGen
TOPMed
CA242188695
rs917181928
1156 I>F No ClinGen
gnomAD
CA6742578
rs755156739
1156 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1409051300
CA386271462
1157 K>R No ClinGen
TOPMed
gnomAD
rs1404807430
CA386271470
1158 M>T No ClinGen
gnomAD
rs376738828
CA386271476
CA6742579
1159 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753132635
CA6742581
1161 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs753132635
CA6742580
1161 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA386271496
rs1406713277
1162 I>T No ClinGen
gnomAD
rs778392441
CA6742582
1165 D>G No ClinGen
ExAC
gnomAD
rs749876191
CA6742583
1166 W>G No ClinGen
ExAC
gnomAD
CA386271532
rs1289814370
1167 E>A No ClinGen
gnomAD
rs1174092723
CA386271555
1170 Q>R No ClinGen
TOPMed
rs778291360
CA6742585
1176 I>V No ClinGen
ExAC
gnomAD
CA6742587
rs771646018
1181 H>R No ClinGen
ExAC
gnomAD
rs540510636
CA6742588
1182 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1378415528
CA386271642
1183 A>T No ClinGen
TOPMed
CA386271652
rs1157471979
1184 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6742590
rs768507897
1185 W>* No ClinGen
ExAC
gnomAD
CA6742589
rs746778315
1185 W>S No ClinGen
ExAC
gnomAD
CA6742613
rs138419405
1188 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1220790601
CA386271709
1190 R>W No ClinGen
TOPMed
gnomAD
CA6742615
rs148863398
1192 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs538134846
CA6742614
1192 G>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1194 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742617
rs772343743
1195 S>G No ClinGen
ExAC
gnomAD
CA6742619
rs760990529
1198 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA386271832
rs760990529
1198 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1208470369
CA386271838
1199 P>A No ClinGen
TOPMed
CA386271847
rs1485599938
1200 T>P No ClinGen
TOPMed
TCGA novel 1201 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1344787741
CA386271873
1202 L>V No ClinGen
TOPMed
gnomAD
CA386271918
rs1461976819
1206 I>L No ClinGen
gnomAD
CA386271927
rs1208115564
1206 I>M No ClinGen
TOPMed
gnomAD
CA386271980
rs1195280025
1209 W>C No ClinGen
gnomAD
rs765632457
CA6742623
1209 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA386271996
rs1375802696
1210 S>R No ClinGen
TOPMed
CA386272013
rs1373614146
1212 N>H No ClinGen
gnomAD
CA386272019
rs1466353644
1212 N>S No ClinGen
gnomAD
rs201748261
CA6742625
1213 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA242189742
rs918248387
1213 A>V No ClinGen
TOPMed
rs747180221
CA386272699
1214 R>S No ClinGen
ExAC
CA6742637
rs768978919
1215 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA386272704
rs768978919
1215 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1409359576
CA386272715
1217 P>T No ClinGen
gnomAD
rs142641785
CA242192433
1218 L>* No ClinGen
Ensembl
CA386272763
rs1478629957
1224 P>A No ClinGen
gnomAD
CA242192438
rs200049376
1227 P>A No ClinGen
Ensembl
rs762081637
CA386272793
CA6742639
1228 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA6742640
rs765694981
1229 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6742642
rs763458770
1233 T>A No ClinGen
ExAC
gnomAD
rs567268708
CA242192494
1233 T>I No ClinGen
TOPMed
gnomAD
rs1180240270
CA386272832
1234 N>K No ClinGen
TOPMed
CA386272835
rs1472573086
1235 V>I No ClinGen
TOPMed
rs1319015338
CA386272841
1236 F>V No ClinGen
gnomAD
rs1239855882
CA386272852
1237 A>V No ClinGen
gnomAD
rs572010130
CA6742644
1238 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6742645
rs185536134
1239 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386272862
rs1220190241
1239 L>P No ClinGen
gnomAD
rs1490442743
CA386272870
1241 A>T No ClinGen
gnomAD
rs140749743
CA6742647
COSM300391
1241 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777636821
CA6742649
1242 K>N No ClinGen
ExAC
gnomAD
rs1181835553
CA386272886
1243 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1181835553
CA386272885
1243 N>T No ClinGen
TOPMed
gnomAD
rs749171301
CA6742650
1244 L>F No ClinGen
ExAC
gnomAD
CA6742651
rs757282358
1244 L>P No ClinGen
ExAC
gnomAD
rs779044360
CA6742652
1245 S>A No ClinGen
ExAC
gnomAD
CA386272897
rs1317502247
1245 S>C No ClinGen
TOPMed
rs1593438644
CA386272900
1246 D>H No ClinGen
Ensembl
rs76793356
CA6742653
1248 T>P No ClinGen
ExAC
gnomAD
rs776706434
CA6742656
1251 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA6742655
rs776706434
1251 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs768849226
CA6742654
1251 I>V No ClinGen
ExAC
gnomAD
rs773660885
CA6742658
1253 M>I No ClinGen
ExAC
gnomAD
CA386272945
rs1390380556
1253 M>T No ClinGen
TOPMed
gnomAD
rs769989869
CA6742657
1253 M>V No ClinGen
ExAC
gnomAD
CA242192610
rs967879803
1254 D>H No ClinGen
TOPMed
gnomAD
CA386272949
rs967879803
1254 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs866519925
CA242192625
1255 I>T No ClinGen
Ensembl
CA386272957
rs1248312715
1255 I>V No ClinGen
gnomAD
CA6742659
rs138765948
1256 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742660
rs766846408
1257 D>G No ClinGen
ExAC
rs1363457079
CA386272984
1259 L>F No ClinGen
TOPMed
CA6742661
rs150082822
1261 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6742663
rs767111217
1266 E>K No ClinGen
ExAC
gnomAD
CA242192649
rs1030806628
1267 P>T No ClinGen
Ensembl
rs1196052071
CA386273042
1268 T>A No ClinGen
TOPMed
gnomAD
rs752232067
CA6742664
1268 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA386273058
rs1404782074
1270 T>R No ClinGen
TOPMed
rs1442219154
CA386273080
1273 N>K No ClinGen
gnomAD
CA6742666
rs755795920
1275 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA242192658
rs990356408
1278 G>R No ClinGen
TOPMed
CA6742667
rs763747390
1279 C>F No ClinGen
ExAC
gnomAD
rs1438476975
CA386273138
1280 V>I No ClinGen
gnomAD
CA386273170
rs1245945771
1282 P>R No ClinGen
TOPMed
CA386273163
rs1356663496
1282 P>S No ClinGen
gnomAD
CA6742669
rs757159501
1283 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1462651023
CA386273175
1283 G>S No ClinGen
gnomAD
CA386273204
rs1565797679
1285 A>V No ClinGen
Ensembl
rs1400392503
CA386273218
1286 E>D No ClinGen
gnomAD
TCGA novel 1289 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386273279
rs1383347625
1289 G>D No ClinGen
gnomAD
rs1315899970
CA386273269
1289 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs916319852
CA242193104
1290 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs781663541
CA242193141
1293 T>A No ClinGen
Ensembl
CA6742697
rs188752585
1294 I>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA242193165
rs1043393547
1294 I>M No ClinGen
TOPMed
gnomAD
rs188752585
CA6742698
1294 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6742696
rs777969594
1294 I>V No ClinGen
ExAC
gnomAD
CA386273423
rs1177384499
1295 G>E No ClinGen
gnomAD
CA386273419
rs1471379656
1295 G>R No ClinGen
gnomAD
rs779255929
CA6742699
1296 G>* No ClinGen
ExAC
gnomAD
rs746321279
CA6742700
1296 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA386273474
rs1291206605
1299 I>S No ClinGen
TOPMed
rs1157520590
CA386273478
1300 L>I No ClinGen
gnomAD
rs1052354356
CA242193205
1304 P>H No ClinGen
Ensembl
rs1302250937
CA386273552
1305 A>G No ClinGen
TOPMed
gnomAD
rs768337638
CA6742704
1307 L>F No ClinGen
ExAC
gnomAD
CA6742706
rs761558757
1308 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs776362046
CA6742705
1308 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA6742707
rs765081808
1309 Y>N No ClinGen
ExAC
TOPMed
gnomAD
CA6742708
rs750262301
1310 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1162426599
CA386273638
1312 K>E No ClinGen
TOPMed
CA6742710
rs766313792
1312 K>R No ClinGen
ExAC
gnomAD
CA386273659
rs1424862602
1313 T>N No ClinGen
TOPMed
CA242193260
rs997330377
1314 T>K No ClinGen
Ensembl
rs1029110057
CA242193292
1315 I>K No ClinGen
Ensembl
rs202205893
CA242193293
1317 A>T No ClinGen
TOPMed
gnomAD
CA386273716
rs1200676766
1318 E>A No ClinGen
gnomAD
CA242193301
rs1006286472
1318 E>D No ClinGen
Ensembl
rs1490937977
CA386273709
1318 E>K No ClinGen
gnomAD
rs377526182
CA6742713
1321 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1322 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742714
rs753994001
1323 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA6742716
rs550961139
1326 R>G No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1327 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746211908
CA6742717
1331 K>E No ClinGen
ExAC
gnomAD
rs1363688234
CA386273923
1333 L>F No ClinGen
gnomAD
rs1363688234
CA386273920
1333 L>I No ClinGen
gnomAD
CA6742718
rs758756100
1333 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA386273972
rs1439582444
1337 S>* No ClinGen
gnomAD
rs1184164737
CA386253395
1338 K>N No ClinGen
gnomAD
rs1373394579
CA386273988
1338 K>R No ClinGen
gnomAD
CA6742746
rs140891740
1341 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242382683
rs767886502
1343 M>V No ClinGen
TOPMed
gnomAD
rs774046568
CA6742747
1345 D>N No ClinGen
ExAC
gnomAD
rs1368396871
CA386253636
1347 E>A No ClinGen
gnomAD
TCGA novel 1347 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs972108450
CA242382693
1349 S>G No ClinGen
TOPMed
gnomAD
CA6742748
rs759421118
1350 S>C No ClinGen
ExAC
gnomAD
COSM1232151
CA6742749
rs767420759
1354 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1325262697
CA386253787
1357 L>F No ClinGen
gnomAD
CA6742753
rs750590866
1360 L>F No ClinGen
ExAC
gnomAD
CA6742754
rs561334023
COSM318280
1362 R>C lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA6742755
rs766714525
1362 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6742756
rs766714525
1362 R>P No ClinGen
ExAC
gnomAD
rs866289187
CA242382759
1363 G>D No ClinGen
Ensembl
rs781764519
CA6742758
1364 N>D No ClinGen
ExAC
gnomAD
CA386253882
rs1260956614
1364 N>S No ClinGen
gnomAD
CA386253899
rs1488338074
1365 I>V No ClinGen
TOPMed
CA6742759
rs147946096
1366 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs980921290
CA242382763
1367 E>Q No ClinGen
TOPMed
CA386255460
rs1206857481
1368 D>G No ClinGen
TOPMed
gnomAD
CA6742774
rs759970064
1370 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs751900429
CA6742773
1370 E>V No ClinGen
ExAC
gnomAD
rs768010423
CA386255517
1371 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6742775
rs768010423
1371 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs73378743
CA6742777
1373 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753191987
COSM1726787
CA6742776
1373 I>V liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA386255560
rs1180389641
1374 L>V No ClinGen
gnomAD
rs1593440345
CA386255580
1375 V>E No ClinGen
Ensembl
rs887139548
CA242384034
1378 Q>E No ClinGen
Ensembl
TCGA novel 1378 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1378 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1365558701
CA386255709
1382 K>N No ClinGen
gnomAD
CA386255706
rs1159619354
1382 K>T No ClinGen
gnomAD
CA386255719
rs1235400055
1383 H>R No ClinGen
TOPMed
rs1593440360
CA386255751
1386 D>A No ClinGen
Ensembl
CA6742780
rs368387710
1387 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742782
rs142061094
1387 P>H No ClinGen
ESP
ExAC
gnomAD
rs142061094
CA6742781
1387 P>R No ClinGen
ESP
ExAC
gnomAD
CA6742783
rs771786212
1388 T>A No ClinGen
ExAC
gnomAD
TCGA novel 1389 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1004157912
CA242384049
1389 S>T No ClinGen
Ensembl
CA386255814
rs1593440373
1391 L>H No ClinGen
Ensembl
rs577001413
CA6742784
1394 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6742785
rs753635463
1396 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA6742786
rs768453138
1397 L>P No ClinGen
ExAC
gnomAD
rs528536715
CA242384066
1401 I>L No ClinGen
TOPMed
rs1488572886
CA386255944
1401 I>T No ClinGen
gnomAD
rs528536715
CA386255937
1401 I>V No ClinGen
TOPMed
CA6742788
rs376859385
1403 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6742790
rs201836633
1404 K>R No ClinGen
1000Genomes
ExAC
CA386256001
rs1248025038
1405 L>S No ClinGen
TOPMed
gnomAD
CA386256002
rs1248025038
1405 L>W No ClinGen
TOPMed
gnomAD
CA6742791
rs759845191
1406 S>L No ClinGen
ExAC
gnomAD
rs1396708382
CA386256077
1411 C>Y No ClinGen
TOPMed
rs200766524
CA6742792
1412 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1462698861
CA386256138
1416 T>A No ClinGen
gnomAD
rs774607968
CA6742811
1416 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1404041133
CA386256143
1417 L>V No ClinGen
TOPMed
gnomAD
CA242384233
rs1014025305
1418 S>F No ClinGen
TOPMed
CA386256172
rs1345634315
1419 D>E No ClinGen
TOPMed
rs746040572
CA386256161
1419 D>H No ClinGen
ExAC
gnomAD
rs746040572
CA6742812
1419 D>N No ClinGen
ExAC
gnomAD
CA386256224
rs775896086
1423 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs772403943
CA6742813
1423 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6742814
rs775896086
1423 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1381379174
CA386256239
1425 K>E No ClinGen
gnomAD
rs760944434
CA6742815
1425 K>N No ClinGen
ExAC
gnomAD
CA242384262
rs758050270
1426 Y>C No ClinGen
TOPMed
gnomAD
rs908634267
CA242384267
1427 I>M No ClinGen
TOPMed
gnomAD
CA386256273
rs1421011577
1427 I>T No ClinGen
TOPMed
CA386256269
rs1218899485
1427 I>V No ClinGen
TOPMed
gnomAD
CA386256282
rs1486384928
1428 T>A No ClinGen
TOPMed
CA6742817
rs776935849
1429 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA386256320
rs776935849
1429 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA386256332
rs1468264630
1430 V>I No ClinGen
Ensembl
CA386256374
rs1485829070
1432 K>T No ClinGen
gnomAD
rs1362442754
CA386256457
1433 L>V No ClinGen
gnomAD
rs765891022
CA6742843
1435 A>T No ClinGen
ExAC
gnomAD
CA242384378
rs751110666
CA386256521
1436 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA6742846
rs767171002
1437 D>G No ClinGen
ExAC
gnomAD
CA6742845
rs759266823
1437 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6742847
rs752516463
1438 Q>E No ClinGen
ExAC
TCGA novel 1438 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1371944008
CA386256587
1439 R>T No ClinGen
gnomAD
rs1221621538
CA386256613
1440 H>P No ClinGen
gnomAD
rs1355128164
CA386256660
1442 D>G No ClinGen
gnomAD
rs777849689
CA6742850
1443 D>E No ClinGen
ExAC
gnomAD
CA6742848
rs756016136
1443 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs976824098
CA242384406
1443 D>N No ClinGen
TOPMed
gnomAD
rs1222548828
CA386256694
1444 I>N No ClinGen
TOPMed
gnomAD
CA386256697
rs1222548828
1444 I>T No ClinGen
TOPMed
gnomAD
rs199880162
CA6742853
1447 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768900064
COSM170545
CA6742854
1448 V>I large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781306759
CA6742855
1449 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1383187013
CA386256788
1449 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA242384473
rs113934134
1451 E>G No ClinGen
Ensembl
rs748505632
CA6742856
1452 T>I No ClinGen
ExAC
gnomAD
rs1405620826
CA386256856
1453 F>S No ClinGen
gnomAD
rs145374811
CA6742857
1454 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773648684
CA6742858
1456 I>V No ClinGen
ExAC
CA6742859
rs202225479
1457 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386256912
rs1332795173
1458 S>F No ClinGen
gnomAD
CA386256918
rs1378239261
1459 Y>N No ClinGen
gnomAD
rs773936722
CA6742861
1460 I>V No ClinGen
ExAC
gnomAD
CA386256946
rs1362013723
1461 K>E No ClinGen
gnomAD
rs1322610138
CA386256989
1464 Q>P No ClinGen
TOPMed
gnomAD
CA242384513
rs983432198
CA386257013
1466 V>L No ClinGen
TOPMed
gnomAD
rs967135903
CA242384520
1467 D>E No ClinGen
Ensembl
rs759019749
CA6742863
1467 D>G No ClinGen
ExAC
gnomAD
CA386257078
rs1458125051
1471 L>P No ClinGen
gnomAD
CA6742867
rs763994847
1475 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA386257170
rs1418263566
1478 C>Y No ClinGen
gnomAD
rs1172144810
CA386257179
1479 F>I No ClinGen
TOPMed
gnomAD
COSM1232152
CA6742868
rs753785975
1479 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6742869
rs374268906
1480 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1335301064
CA386257230
1482 L>Q No ClinGen
gnomAD
rs1342855511
CA386257245
1483 E>D No ClinGen
gnomAD
CA386257645
rs1325013944
1486 D>G No ClinGen
gnomAD
rs201044694
CA6742884
1487 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763931199
CA6742885
1488 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6742886
rs776545622
1491 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs765762378
CA6742887
1492 N>S No ClinGen
ExAC
gnomAD
rs765212475
CA6742888
1494 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA242385552
rs765212475
1494 S>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1497 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742891
rs767496063
1498 M>T No ClinGen
ExAC
gnomAD
CA6742890
rs755025031
1498 M>V No ClinGen
ExAC
gnomAD
rs778022967
CA6742894
1501 I>M No ClinGen
ExAC
TOPMed
CA6742893
rs539094192
1501 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6742896
rs757630101
1504 L>P No ClinGen
ExAC
gnomAD
CA386257774
rs1196592044
1505 A>P No ClinGen
gnomAD
CA6742897
rs779462884
1506 A>V No ClinGen
ExAC
gnomAD
rs746376511
CA6742898
1508 N>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1509 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742900
rs146459370
1509 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1299194093
CA386257807
1510 T>R No ClinGen
gnomAD
rs775161803
CA6742901
1511 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA386257828
rs1403359604
1513 D>G No ClinGen
gnomAD
CA386257842
rs1331733432
1515 R>K No ClinGen
gnomAD
rs923095333
CA242385619
1516 E>* No ClinGen
TOPMed
gnomAD
rs556113854
CA6742903
1518 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs11614935
CA242385620
1519 H>P No ClinGen
Ensembl
rs140971531
CA6742904
1520 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs117417637
CA6742905
1520 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA242385637
rs117417637
COSM3700178
1520 R>L liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs200304349
CA6742906
1522 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs762833409
CA6742908
1524 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762833409
CA386257893
1524 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1314518166
CA386257897
1524 E>V No ClinGen
Ensembl
CA386257905
rs1451659088
1525 K>R No ClinGen
gnomAD
rs1362498186
CA386257949
1529 G>V No ClinGen
gnomAD
rs764296748
CA6742912
1532 S>G No ClinGen
ExAC
gnomAD
CA6742913
rs754118365
1533 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6742914
rs757585781
1534 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA386258073
rs1243132182
1536 S>N No ClinGen
gnomAD
rs769589007
CA6742925
1537 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA386258123
rs1369215771
1540 D>V No ClinGen
gnomAD
CA242386169
rs1015154195
1542 T>A No ClinGen
TOPMed
rs1461696490
CA386258152
1542 T>N No ClinGen
gnomAD
CA386258162
rs1447512117
1543 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs139881043
CA6742926
1544 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368175517
CA386258187
1546 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA6742927
rs368175517
1546 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA6742928
rs770829524
1547 C>F No ClinGen
ExAC
gnomAD
CA386258214
rs1267193737
1548 L>S No ClinGen
gnomAD
CA386258231
rs1300048218
1550 Q>E No ClinGen
gnomAD
CA386258233
rs1300048218
1550 Q>K No ClinGen
gnomAD
rs774343283
CA6742929
1551 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1551 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742930
rs548640606
1552 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1264785850
CA386258275
1554 N>D No ClinGen
TOPMed
CA386258301
rs1393998877
1556 L>V No ClinGen
TOPMed
gnomAD
rs1221493725
CA386258310
1557 E>Q No ClinGen
gnomAD
CA386258352
rs1314627438
1560 D>N No ClinGen
gnomAD
rs1488613822
CA386258378
1562 V>L No ClinGen
TOPMed
rs764173740
CA6742931
1565 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1566 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs960490555
CA242386200
1566 H>Y No ClinGen
TOPMed
gnomAD
rs992310505
CA242386203
1568 H>R No ClinGen
Ensembl
rs144785642
CA6742933
1572 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138618335
CA242386215
1573 D>H No ClinGen
ESP
TOPMed
rs1262992004
CA386258588
1574 F>L No ClinGen
gnomAD
rs1482570821
CA386258623
1575 F>L No ClinGen
gnomAD
CA386258682
rs1183917193
1578 M>I No ClinGen
TOPMed
gnomAD
CA242386217
rs534543110
1580 H>Q No ClinGen
1000Genomes
rs1338811213
CA386258715
1580 H>Y No ClinGen
Ensembl
rs1322998782
CA386258734
1581 I>T No ClinGen
TOPMed
rs765543488
CA6742934
1581 I>V No ClinGen
ExAC
gnomAD
rs1428336742
CA386258749
1582 Q>R No ClinGen
gnomAD
CA386258865
rs765373209
1583 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA6742953
rs765373209
1583 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA386258857
rs1302196265
1583 I>V No ClinGen
gnomAD
rs1383687438
CA386258955
1589 A>V No ClinGen
Ensembl
rs1030652195
CA242386787
1593 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 1593 L>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742956
rs766850977
1594 A>G No ClinGen
ExAC
gnomAD
rs1488716489
CA386259028
1595 K>R No ClinGen
gnomAD
rs1221984289
CA386259042
1596 Q>R No ClinGen
gnomAD
CA386259069
rs1425715866
1598 M>T No ClinGen
gnomAD
CA386259062
rs1191851831
1598 M>V No ClinGen
gnomAD
CA6742957
rs752070046
1600 G>D No ClinGen
ExAC
gnomAD
CA6742959
rs149336135
1603 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367941748
CA6742960
1604 L>V No ClinGen
ESP
ExAC
gnomAD
rs777281225
CA6742962
1606 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA386259200
rs1365289231
1608 S>F No ClinGen
TOPMed
rs756979304
CA386259205
1609 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA386259209
rs1423116818
1609 L>P No ClinGen
TOPMed
rs756979304
CA6742964
1609 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs778713790
CA6742965
1610 Q>H No ClinGen
ExAC
gnomAD
CA6742966
rs745758873
1614 M>I No ClinGen
ExAC
CA386259264
rs1445256995
1615 P>S No ClinGen
gnomAD
CA6742967
rs771964399
1616 Y>C No ClinGen
ExAC
gnomAD
rs1312147742
CA386259269
1616 Y>H No ClinGen
gnomAD
CA242386921
rs1029074136
1617 A>S No ClinGen
TOPMed
gnomAD
rs1287911608
CA386259279
1617 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386259296
rs1323746921
1620 P>A No ClinGen
gnomAD
rs1323746921
CA386259297
1620 P>S No ClinGen
gnomAD
rs1222335366
CA386259303
1621 I>V No ClinGen
gnomAD
rs1456536811
CA386259320
1623 D>G No ClinGen
gnomAD
rs1232406484
CA386259316
1623 D>N No ClinGen
gnomAD
rs1456536811
CA386259321
1623 D>V No ClinGen
gnomAD
rs1463191340
CA386259327
1624 E>G No ClinGen
TOPMed
CA242386929
rs986388533
1624 E>K No ClinGen
TOPMed
gnomAD
CA6742968
rs775562299
1625 K>R No ClinGen
ExAC
gnomAD
rs200660845
CA6742969
1627 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1390137775
CA386260525
1629 H>Q No ClinGen
TOPMed
rs1259833257
CA386260522
1629 H>R No ClinGen
gnomAD
rs199793716
CA6742982
1633 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1635 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1637 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6742985
rs758246406
1638 E>D No ClinGen
ExAC
gnomAD
CA386260603
rs1182060868
1639 I>V No ClinGen
gnomAD
CA242390251
rs918519737
1640 I>T No ClinGen
TOPMed
gnomAD
rs779797414
CA6742986
1642 A>T No ClinGen
ExAC
gnomAD
COSM32703
VAR_036274
CA6742987
rs140657361
1645 K>I breast a breast cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6742988
rs769717548
1645 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1414433334
CA386260647
1646 H>N No ClinGen
gnomAD
rs1414433334
CA386260649
1646 H>Y No ClinGen
gnomAD
rs1435638396
CA386260666
1648 S>F No ClinGen
TOPMed
rs375635027
CA242390265
1649 W>L No ClinGen
ESP
TOPMed
gnomAD
rs184720709
CA6742989
1651 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242390274
rs184720709
1651 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1277806435
CA386260708
1652 Y>C No ClinGen
gnomAD
CA386260726
rs1565801797
1653 M>T No ClinGen
Ensembl
rs771250173
CA6742991
1653 M>V No ClinGen
ExAC
gnomAD
CA6742994
rs767941739
1656 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA6742993
rs759969869
1656 L>V No ClinGen
ExAC
gnomAD
rs1199772212
CA386260782
1657 K>R No ClinGen
gnomAD
CA386260789
rs775793754
1658 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs775793754
CA6742995
1658 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA386260810
rs1443914250
1659 F>S No ClinGen
gnomAD
rs763464301
CA6742997
1661 H>R No ClinGen
ExAC
gnomAD
rs753325126
CA6742998
1665 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs77578150
CA6743000
1666 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242390302
rs537785440
1669 N>H No ClinGen
TOPMed
gnomAD
rs556112079
CA242390304
1669 N>S No ClinGen
TOPMed
gnomAD
CA6743001
rs750088372
1673 G>A No ClinGen
ExAC
gnomAD
rs1212612075
CA386261014
1676 L>F No ClinGen
gnomAD
rs764731370
CA6743022
1679 I>V No ClinGen
ExAC
gnomAD
CA386261092
rs1390371648
1685 H>Y No ClinGen
gnomAD
rs750032755
CA6743023
1687 D>E No ClinGen
ExAC
gnomAD
CA242390797
rs867243698
1687 D>N No ClinGen
Ensembl
CA386261149
rs1391753731
1688 H>Q No ClinGen
TOPMed
rs762685426
CA6743024
1688 H>Y No ClinGen
ExAC
gnomAD
rs765993610
CA6743025
1690 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs562904840
CA242390808
1691 L>P No ClinGen
1000Genomes
rs751335167
CA6743027
1694 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA6743028
rs373208716
1698 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1702 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242391673
rs772682870
1704 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs772682870
CA6743044
1704 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1339467483
CA386261646
1704 A>V No ClinGen
gnomAD
rs762406678
CA6743045
1705 I>T No ClinGen
ExAC
gnomAD
rs1050847513
CA242391678
1705 I>V No ClinGen
TOPMed
gnomAD
CA6743046
rs766047935
1708 I>V No ClinGen
ExAC
rs773936056
CA6743047
1709 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs773936056
CA6743048
1709 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1715 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386261825
rs1459490674
1717 E>* No ClinGen
gnomAD
rs759446787
CA242391697
1719 E>Q No ClinGen
Ensembl
rs1196699046
CA386261868
1720 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs756143997
CA6743051
1720 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386261874
rs756143997
COSM3810782
1720 R>P breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs764176723
CA6743052
1722 D>V No ClinGen
ExAC
gnomAD
CA386261923
rs1285890174
1724 E>Q No ClinGen
TOPMed
rs750486862
CA6743053
1725 E>A No ClinGen
ExAC
gnomAD
rs1226298360
CA386261991
1728 Y>H No ClinGen
TOPMed
rs758462757
CA6743054
1729 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1397969450
CA386262051
1730 C>Y No ClinGen
gnomAD
rs1565802612
CA386262064
1731 K>E No ClinGen
Ensembl
CA6743057
rs776367536
1732 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs776367536
CA386262099
1732 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1346558162
CA386262116
1733 L>* No ClinGen
Ensembl
rs1363560163
CA386262181
1736 N>H No ClinGen
TOPMed
rs1394130991
CA386262192
1736 N>S No ClinGen
TOPMed
gnomAD
CA242391737
rs868446613
1737 G>R No ClinGen
gnomAD
rs138643360
CA6743059
1739 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386262251
rs1565802631
1739 P>S No ClinGen
Ensembl
CA386262303
rs1319436791
1742 P>A No ClinGen
gnomAD
rs1014340936
CA242391743
1742 P>L No ClinGen
TOPMed
CA6743062
rs773656267
1743 D>N No ClinGen
ExAC
gnomAD
rs1049360452
CA242391765
1744 P>A No ClinGen
TOPMed
CA386262364
rs1482480147
1745 A>V No ClinGen
gnomAD
CA386262367
rs1403432291
1746 D>N No ClinGen
gnomAD
CA682724591
rs1405053064
1748 G>N No ClinGen
TOPMed
rs1446259644
CA386262414
1749 G>E No ClinGen
TOPMed
CA386262448
rs1258423462
1752 A>D No ClinGen
gnomAD
rs1593446066
CA386262457
1753 K>E No ClinGen
Ensembl
rs1488101471
CA386262463
1753 K>I No ClinGen
gnomAD
CA6743065
rs773991609
1754 E>Q No ClinGen
ExAC
gnomAD
CA386262506
rs1171039688
1756 E>D No ClinGen
gnomAD
rs537149110
CA6743067
1756 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386262531
rs1390790093
1758 I>N No ClinGen
TOPMed
gnomAD
rs775403795
CA6743068
1759 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs760587520
CA6743069
1760 K>T No ClinGen
ExAC
gnomAD
rs764125310
CA6743070
1762 V>F No ClinGen
ExAC
gnomAD
CA6743071
rs764125310
1762 V>I No ClinGen
ExAC
gnomAD
CA386262622
rs1399046537
1765 L>I No ClinGen
gnomAD
rs201687062
CA6743073
1769 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386262686
rs1214716769
1769 K>T No ClinGen
gnomAD
CA386262697
rs1301109383
1770 E>K No ClinGen
gnomAD
CA6743074
rs751752396
1772 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs370227791
CA6743075
1775 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1235823719
CA386262749
1775 T>S No ClinGen
gnomAD
CA242391814
rs957622751
1776 I>S No ClinGen
gnomAD
rs1214693483
CA386262760
1777 K>E No ClinGen
gnomAD
rs1368112919
CA386262779
1779 I>T No ClinGen
gnomAD
CA386262785
rs1220737843
1780 Q>P No ClinGen
TOPMed
gnomAD
rs781431203
CA6743076
1781 G>E No ClinGen
ExAC
gnomAD
TCGA novel 1782 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748505798
CA6743077
1782 T>P No ClinGen
ExAC
gnomAD
rs1190687504
CA386262798
1782 T>S No ClinGen
TOPMed
gnomAD
rs1434611335
CA386262801
1783 I>V No ClinGen
Ensembl
rs202007555
CA6743080
1784 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386262811
rs1273094961
1784 T>I No ClinGen
TOPMed
CA6743082
rs770436107
1785 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs770436107
CA386262813
1785 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs745423859
CA6743084
1786 D>V No ClinGen
ExAC
gnomAD
CA386262826
rs1593446151
1787 I>F No ClinGen
Ensembl
rs1565802736
CA386262847
1790 R>K No ClinGen
Ensembl
rs1203143200
CA386262854
1791 L>P No ClinGen
gnomAD
rs143164886
CA6743088
1796 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242391851
rs964359460
1796 A>S No ClinGen
Ensembl
rs966475727
CA242391861
1797 S>F No ClinGen
TOPMed
gnomAD
CA6743089
rs776588186
1798 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6743090
rs776588186
1798 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs761708682
CA6743108
1799 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs769612786
CA6743109
1800 K>E No ClinGen
ExAC
gnomAD
CA6743110
rs773190450
1800 K>T No ClinGen
ExAC
gnomAD
CA386263768
rs1457280701
1801 R>G No ClinGen
gnomAD
CA242394509
rs1006661189
1801 R>K No ClinGen
TOPMed
gnomAD
rs764430407
CA6743115
1809 K>T No ClinGen
ExAC
gnomAD
CA6743116
rs754125503
1810 S>L No ClinGen
ExAC
gnomAD
CA6743118
rs779277196
1811 K>N No ClinGen
ExAC
gnomAD
rs1464549657
CA386263842
1811 K>R No ClinGen
gnomAD
CA6743119
rs750967262
1815 D>H No ClinGen
ExAC
gnomAD
rs779728964
CA6743121
1817 E>D No ClinGen
ExAC
gnomAD
CA6743120
rs76752752
1817 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6743124
rs768218728
1819 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6743125
COSM933941
rs747880391
1820 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386263899
rs769642275
1820 R>L No ClinGen
ExAC
gnomAD
rs769642275
CA6743126
1820 R>Q No ClinGen
ExAC
gnomAD
CA386263900
rs1216693636
1821 V>I No ClinGen
gnomAD
TCGA novel 1824 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743127
rs201154660
1826 A>P No ClinGen
ExAC
gnomAD
rs201154660
CA242394568
1826 A>T No ClinGen
ExAC
gnomAD
rs1235332298
CA386263936
1826 A>V No ClinGen
gnomAD
CA6743130
rs775525025
1827 M>I No ClinGen
ExAC
gnomAD
CA242394581
rs773807111
1827 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs773807111
CA6743129
1827 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs749256675
CA6743128
1827 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6743132
rs377746179
1828 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743131
rs377746179
1828 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1414204246
CA386263954
1830 L>I No ClinGen
TOPMed
gnomAD
CA386263955
rs1414204246
1830 L>V No ClinGen
TOPMed
gnomAD
rs1377460808
CA386263972
1832 Q>L No ClinGen
gnomAD
rs776973416
CA6743133
1834 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA242394589
rs756356391
1837 E>Q No ClinGen
Ensembl
CA6743134
rs762028396
1838 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA6743136
rs750908440
1839 M>I No ClinGen
ExAC
gnomAD
CA6743135
rs765662675
1839 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA242394590
rs545662193
1839 M>V No ClinGen
1000Genomes
gnomAD
CA386264027
rs1302850358
1841 A>T No ClinGen
TOPMed
CA6743137
rs200642215
1842 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA386264119
rs1284307677
1846 I>V No ClinGen
gnomAD
TCGA novel 1847 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1450586058
CA386264192
1849 K>E No ClinGen
gnomAD
CA386264226
rs773676126
1850 V>A No ClinGen
ExAC
gnomAD
CA6743155
rs773676126
1850 V>G No ClinGen
ExAC
gnomAD
rs1197349017
CA386264218
1850 V>M No ClinGen
gnomAD
rs1593446999
CA386264239
1851 C>S No ClinGen
Ensembl
CA6743156
rs763477546
1851 C>S No ClinGen
ExAC
gnomAD
CA6743157
rs190550846
1852 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA386264268
rs1471299477
COSM1232155
1852 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA6743158
rs367575502
1853 L>P No ClinGen
ESP
ExAC
gnomAD
rs754377144
CA6743159
1854 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs752244186
CA6743161
1858 A>T No ClinGen
ExAC
gnomAD
CA386264411
rs1396614350
1860 E>K No ClinGen
gnomAD
rs1335092276
CA386264453
1861 I>M No ClinGen
TOPMed
CA6743162
rs755769682
1861 I>T No ClinGen
ExAC
gnomAD
rs777443406
CA6743163
1863 D>E No ClinGen
ExAC
gnomAD
CA386264491
rs1468193712
1863 D>Y No ClinGen
gnomAD
rs757105753
CA6743165
1864 I>T No ClinGen
ExAC
gnomAD
CA6743164
rs749081214
1864 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6743166
rs778767258
COSM430160
1866 R>C Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371374289
CA6743167
1866 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1275538070
CA386264551
1870 A>E No ClinGen
TOPMed
gnomAD
rs1275538070
CA386264553
1870 A>V No ClinGen
TOPMed
gnomAD
CA386264560
rs1198366616
1871 K>N No ClinGen
gnomAD
rs748212074
CA6743170
1873 I>T No ClinGen
ExAC
gnomAD
rs781307701
CA6743169
1873 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6743171
rs770132309
1875 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1471817742
CA386264589
1876 L>I No ClinGen
gnomAD
rs1471817742
CA386264590
1876 L>V No ClinGen
gnomAD
CA386264632
rs10082778
1882 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_055136
CA6743173
rs10082778
1882 L>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386264631
rs10082778
1882 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1330644770
CA386264646
1884 V>A No ClinGen
gnomAD
rs1392984466
CA386264668
1887 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs374794776
CA6743177
1889 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743178
rs752220287
1890 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA386264690
rs1382720819
1891 T>A No ClinGen
TOPMed
rs760245089
CA6743179
1891 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA386264695
rs1593447113
1892 L>V No ClinGen
Ensembl
rs763725976
CA6743180
1894 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA386264707
rs763725976
1894 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs753504875
CA6743181
1894 R>H No ClinGen
ExAC
TOPMed
CA6743183
rs778788547
1896 Y>H No ClinGen
ExAC
gnomAD
rs750232665
CA386264730
1897 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1317960400
CA386264728
1897 Q>L No ClinGen
TOPMed
CA6743193
rs759858291
1898 V>I No ClinGen
ExAC
gnomAD
rs1255736818
CA386265233
1901 L>V No ClinGen
gnomAD
rs775922525
CA386265251
1902 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6743195
rs775922525
1902 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs775922525
CA242397924
1902 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1201199611
CA386265293
1904 T>A No ClinGen
TOPMed
CA386265305
rs1593449109
1904 T>I No ClinGen
Ensembl
rs76643734
RCV000879079
CA6743197
1905 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386265333
rs1290202929
1906 H>D No ClinGen
gnomAD
CA6743199
rs761429859
1914 N>D No ClinGen
ExAC
gnomAD
CA6743200
rs764835175
1914 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs376472973
CA6743201
1918 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743203
rs779982797
1919 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs12309241
CA386265607
1921 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242397983
rs950096600
1921 L>W No ClinGen
gnomAD
CA386265623
rs1175125950
1922 D>H No ClinGen
gnomAD
CA6743205
rs756221544
1923 S>F No ClinGen
ExAC
gnomAD
rs565059952
CA6743206
1924 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1237482838
CA386265681
1926 D>H No ClinGen
gnomAD
rs1363503291
CA386265686
1926 D>V No ClinGen
gnomAD
rs749429613
CA6743207
1927 I>T No ClinGen
ExAC
gnomAD
CA386265714
rs1369227332
1928 M>T No ClinGen
TOPMed
gnomAD
CA386265706
rs1301253079
1928 M>V No ClinGen
gnomAD
CA242399116
rs998844009
1931 I>M No ClinGen
gnomAD
CA6743222
rs200676365
1931 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386265860
rs1481098287
1933 N>K No ClinGen
TOPMed
RCV000885823
CA6743223
rs79904445
1934 H>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1408387304
CA386265873
1935 E>G No ClinGen
gnomAD
CA386265912
rs1328287343
1941 A>T No ClinGen
gnomAD
rs1215529686
CA386265929
1943 E>G No ClinGen
gnomAD
rs766116806
CA6743224
1944 K>N No ClinGen
ExAC
gnomAD
CA6743225
rs548762458
1945 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1175113596
CA386265942
1945 E>V No ClinGen
gnomAD
CA386265962
rs1383695558
1948 Q>* No ClinGen
gnomAD
TCGA novel 1948 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743227
rs767605228
1950 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1275523044
CA386265987
1952 K>E No ClinGen
TOPMed
rs568702973
CA6743230
1954 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386266011
rs1327226475
1955 E>A No ClinGen
TOPMed
gnomAD
CA6743231
rs746086197
1956 A>T No ClinGen
ExAC
gnomAD
rs758751810
CA6743232
1956 A>V No ClinGen
ExAC
gnomAD
rs780421838
CA6743233
COSM933944
1957 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs747411596
CA6743234
1957 R>Q No ClinGen
ExAC
gnomAD
rs1284424760
CA386266029
1958 R>S No ClinGen
TOPMed
CA386266031
rs1225916509
1959 S>G No ClinGen
TOPMed
CA6743235
rs534493086
1960 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1348670510
CA386266050
1961 S>I No ClinGen
TOPMed
rs1348670510
CA386266048
1961 S>N No ClinGen
TOPMed
COSM79095
CA6743238
rs747596099
1962 Y>* ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761861027
CA6743239
1963 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA386266061
rs867034932
1963 D>H No ClinGen
gnomAD
rs867034932
CA242399189
1963 D>N No ClinGen
gnomAD
rs867034932
CA386266060
1963 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6743240
rs762533237
1964 S>A No ClinGen
ExAC
gnomAD
CA386266067
rs762533237
1964 S>P No ClinGen
ExAC
gnomAD
CA919159451
rs1593449772
1965 Y>* No ClinGen
Ensembl
CA6743241
rs766103136
1965 Y>H No ClinGen
ExAC
gnomAD
rs1565805218
CA386266090
1967 I>T No ClinGen
Ensembl
TCGA novel 1968 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743243
rs759472914
1969 G>C No ClinGen
ExAC
TOPMed
gnomAD
COSM1358145
CA6743244
rs759472914
1969 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386266107
rs1470933938
1970 K>R No ClinGen
TOPMed
rs1475938209
CA386266116
1971 F>S No ClinGen
gnomAD
CA386266123
rs1419431423
1972 V>A No ClinGen
gnomAD
rs750611754
CA386266140
1975 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA6743248
rs750611754
1975 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1976 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1976 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355295570
CA386266150
1976 Q>R No ClinGen
gnomAD
CA386266161
rs1461113732
1978 T>A No ClinGen
TOPMed
rs141173458
CA6743249
RCV000885824
1979 K>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs908921210
CA242399297
1979 K>R No ClinGen
gnomAD
rs1415479382
CA386266173
1980 L>V No ClinGen
TOPMed
gnomAD
rs1361206414
CA386266202
1983 P>S No ClinGen
gnomAD
CA6743253
rs142320995
1985 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386266251
rs1209694154
1986 E>D No ClinGen
gnomAD
rs1593449829
CA386266247
1986 E>G No ClinGen
Ensembl
rs201490996
CA6743278
1988 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs367851970
CA242400709
1989 Q>L No ClinGen
ESP
TOPMed
gnomAD
CA6743279
rs146367811
1990 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747940559
CA6743280
1992 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6743285
rs139139597
1998 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6743284
COSM1232149
rs766476346
1998 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1334039209
CA386266593
1999 K>E No ClinGen
TOPMed
CA6743286
rs759731933
2001 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA242400761
rs948183973
2001 H>R No ClinGen
Ensembl
rs1038084042
CA242400762
2002 E>A No ClinGen
TOPMed
gnomAD
CA386266640
rs1038084042
2002 E>G No ClinGen
TOPMed
gnomAD
CA386266656
rs1362288476
2003 T>S No ClinGen
TOPMed
gnomAD
CA6743287
rs143153802
COSM1561888
2005 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143153802
CA6743288
2005 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756559736
CA6743289
2005 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs756559736
CA6743290
2005 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6743291
rs754376370
2006 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756791850
COSM1358146
CA6743292
2006 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA242400810
rs907097284
2012 I>V No ClinGen
TOPMed
CA242400823
rs771907975
2014 N>K No ClinGen
Ensembl
CA6743297
rs758097426
2015 Q>* No ClinGen
ExAC
gnomAD
CA386266826
rs1387138993
2017 M>V No ClinGen
gnomAD
rs1327698488
CA386266868
2020 E>K No ClinGen
gnomAD
rs1257644076
CA386266886
2021 S>P No ClinGen
TOPMed
rs779811047
CA6743300
2021 S>Y No ClinGen
ExAC
gnomAD
CA386266898
rs1443687740
2022 I>F No ClinGen
gnomAD
CA6743301
rs746719745
2022 I>S No ClinGen
ExAC
gnomAD
CA386266901
rs746719745
2022 I>T No ClinGen
ExAC
gnomAD
TCGA novel 2023 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386266921
rs1565805774
2024 L>S No ClinGen
Ensembl
TCGA novel 2027 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242400871
rs1029548418
2027 Y>N No ClinGen
Ensembl
CA386266976
rs1487678584
2028 G>D No ClinGen
TOPMed
CA386267003
rs1275677714
2030 I>S No ClinGen
gnomAD
rs953880159
CA242400881
2030 I>V No ClinGen
TOPMed
gnomAD
rs1195605108
CA386267022
2031 S>R No ClinGen
gnomAD
rs1357419098
CA6743305
2031 S>R No ClinGen
TOPMed
gnomAD
CA386267028
rs1248634656
2032 E>K No ClinGen
gnomAD
CA242400910
rs1034990688
2035 P>L No ClinGen
TOPMed
gnomAD
CA242400902
rs1034990688
2035 P>R No ClinGen
TOPMed
gnomAD
CA6743308
rs776389782
2038 T>P No ClinGen
ExAC
gnomAD
CA6743309
rs776389782
2038 T>S No ClinGen
ExAC
gnomAD
CA386267127
rs1419953921
2040 K>E No ClinGen
gnomAD
CA386267137
rs1458176673
2040 K>N No ClinGen
gnomAD
rs772200066
CA6743333
2043 N>S No ClinGen
ExAC
gnomAD
CA386267181
rs1328562245
2044 P>L No ClinGen
gnomAD
rs1304078142
CA386267197
2047 P>Q No ClinGen
gnomAD
rs760983038
CA6743335
2048 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs777108135
CA6743337
2050 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs762337652
CA6743338
2052 R>C No ClinGen
ExAC
gnomAD
CA6743339
rs200987450
2052 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1317060038
CA386267236
2054 P>Q No ClinGen
gnomAD
CA386267243
rs1258941768
2055 P>L No ClinGen
gnomAD
CA6743341
rs369147512
2055 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743343
rs751078144
2056 Q>H No ClinGen
ExAC
gnomAD
rs765933027
CA6743342
2056 Q>R No ClinGen
ExAC
gnomAD
rs1452153122
CA386267251
2057 S>G No ClinGen
gnomAD
TCGA novel 2058 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs947252322
CA242401826
2059 L>F No ClinGen
TOPMed
CA386267280
rs1377686565
2061 L>P No ClinGen
gnomAD
CA242401856
rs933726574
2062 P>T No ClinGen
Ensembl
TCGA novel 2063 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565806049
CA386267287
2063 P>S No ClinGen
Ensembl
rs373946150
CA6743347
2064 T>S No ClinGen
ESP
ExAC
gnomAD
CA386267303
rs1387803210
2065 P>L No ClinGen
gnomAD
rs1436224340
CA386267311
2067 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs777621371
CA6743349
2067 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs777621371
CA6743348
2067 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1210241748
CA386267313
2068 G>S No ClinGen
gnomAD
rs780163654
CA6743351
2069 G>E No ClinGen
ExAC
gnomAD
CA6743352
rs747101880
2072 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA242401894
rs942303087
2073 V>L No ClinGen
TOPMed
rs768922754
CA6743353
2074 V>G No ClinGen
ExAC
gnomAD
rs1393688301
CA386267363
2076 R>G No ClinGen
TOPMed
CA6743354
rs777054847
2076 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1466227031
CA386267379
2078 T>N No ClinGen
TOPMed
gnomAD
CA6743355
rs762198453
2078 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1209327683
CA386267386
2079 N>S No ClinGen
gnomAD
CA386267391
rs1593451011
2080 M>V No ClinGen
Ensembl
CA386267422
rs1467016299
2082 I>M No ClinGen
gnomAD
CA6743356
rs377393735
2082 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386267430
rs1490904654
2083 F>Y No ClinGen
TOPMed
gnomAD
TCGA novel 2084 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386267439
rs1192567844
2084 I>V No ClinGen
gnomAD
CA386267462
rs1197613106
2085 E>D No ClinGen
TOPMed
gnomAD
rs1417950513
CA386267484
2087 G>A No ClinGen
gnomAD
rs139993869
CA6743359
2089 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368816848
CA6743358
2089 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1187769913
CA386267631
2092 H>L No ClinGen
gnomAD
rs1416350837
CA386267652
2094 S>N No ClinGen
gnomAD
rs1165970202
CA386267720
2099 K>R No ClinGen
gnomAD
rs540667932
CA6743372
2100 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540667932
CA242402957
2100 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540667932
CA386267730
2100 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 2102 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743374
rs566317967
2105 E>D No ClinGen
ExAC
gnomAD
rs773678254
CA6743375
2110 M>V No ClinGen
ExAC
gnomAD
CA386267818
rs1414253848
2112 D>Y No ClinGen
gnomAD
CA6743377
rs180913369
2113 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386267850
rs1353516040
2115 V>L No ClinGen
gnomAD
rs1446755889
CA386267881
2117 L>R No ClinGen
TOPMed
CA386267888
rs1290299896
2118 L>F No ClinGen
TOPMed
gnomAD
rs139860197
CA6743380
2119 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242403074
rs867384052
2124 S>F No ClinGen
Ensembl
rs117476305
CA6743381
RCV000957672
2128 K>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386268461
rs1163282535
2132 G>S No ClinGen
gnomAD
CA386268476
rs1416819823
2134 L>S No ClinGen
TOPMed
rs145553624
CA6743408
2135 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs977857106
CA242404761
2136 C>* No ClinGen
Ensembl
CA386268488
rs1593452383
2136 C>R No ClinGen
Ensembl
rs1334670287
CA386268502
2138 I>V No ClinGen
gnomAD
CA386268535
rs1432589311
2142 R>S No ClinGen
gnomAD
CA6743411
rs142621773
2144 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386268559
rs1272789747
2146 P>L No ClinGen
gnomAD
CA386268554
rs1181643591
2146 P>T No ClinGen
TOPMed
CA6743414
rs749504475
2148 I>T No ClinGen
ExAC
gnomAD
CA386268581
rs1258312028
2150 T>A No ClinGen
TOPMed
CA386268584
rs1213679753
2150 T>I No ClinGen
TOPMed
CA386268589
rs1284127014
2151 K>T No ClinGen
gnomAD
rs532458001
CA6743415
2152 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 2152 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743416
rs779125530
2153 E>G No ClinGen
ExAC
gnomAD
rs759751947
CA242404823
2154 Q>R No ClinGen
Ensembl
CA242404825
rs368586505
2157 K>E No ClinGen
ESP
TOPMed
rs887618091
CA242404826
2158 H>N No ClinGen
Ensembl
rs753723276
CA6743418
2158 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1310236420
CA386268668
2164 K>E No ClinGen
TOPMed
CA6743419
rs146353954
2164 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746467924
CA6743420
2167 A>G No ClinGen
ExAC
gnomAD
rs1478368080
CA386268690
2167 A>T No ClinGen
gnomAD
CA242404839
rs990604941
2169 L>P No ClinGen
TOPMed
CA6743423
rs372898217
2170 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386268716
rs1161357834
2171 A>D No ClinGen
gnomAD
rs141629518
CA6743425
2172 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150422308
CA6743426
RCV000903319
2173 R>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs751546746
CA6743428
2175 Q>R No ClinGen
ExAC
gnomAD
rs1278420231
CA386268757
2177 F>L No ClinGen
gnomAD
CA6743429
rs760797743
2177 F>L No ClinGen
ExAC
gnomAD
rs11615135
CA242404919
2178 H>P No ClinGen
Ensembl
rs1565806957
CA386268760
2178 H>Y No ClinGen
Ensembl
CA6743431
rs138226932
2179 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242404927
rs138226932
2179 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743432
rs754000492
2181 V>F No ClinGen
ExAC
gnomAD
CA6743433
rs149603349
2182 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75031616
CA242404945
2182 N>Y No ClinGen
1000Genomes
TCGA novel 2184 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242404994
rs144338772
2185 K>R No ClinGen
ESP
TOPMed
CA6743445
rs562091153
2186 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1471708181
CA386268851
2187 V>M No ClinGen
TOPMed
rs1272759174
CA386268859
2188 T>I No ClinGen
gnomAD
rs774383044
CA6743446
2190 L>F No ClinGen
ExAC
gnomAD
rs767532247
CA6743448
2191 V>I No ClinGen
ExAC
gnomAD
TCGA novel 2194 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1462264044
CA386268906
2195 K>N No ClinGen
TOPMed
rs753860891
CA6743449
2198 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA6743450
rs762013459
2198 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA6743451
rs765322230
2199 I>T No ClinGen
ExAC
gnomAD
TCGA novel 2202 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386268981
rs1368337868
2206 V>D No ClinGen
gnomAD
rs1269662887
CA386268995
2209 A>S No ClinGen
TOPMed
CA6743453
rs369865286
2210 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1565807141
CA386269012
2211 A>V No ClinGen
Ensembl
TCGA novel 2212 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2213 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1356151015
CA386269029
2214 D>N No ClinGen
TOPMed
CA6743456
rs755432902
2218 T>S No ClinGen
ExAC
gnomAD
CA6743459
rs747551809
CA6743458
2219 S>* No ClinGen
ExAC
gnomAD
CA6743460
rs747551809
2219 S>L No ClinGen
ExAC
gnomAD
rs781750460
CA6743457
2219 S>T No ClinGen
ExAC
gnomAD
rs1295621149
CA386269068
2220 R>G No ClinGen
gnomAD
CA6743461
rs748970812
2220 R>K No ClinGen
ExAC
gnomAD
rs770757513
CA6743462
2221 Q>K No ClinGen
ExAC
gnomAD
CA386269076
rs1279681269
2221 Q>R No ClinGen
gnomAD
CA386269082
rs1482355052
2222 A>P No ClinGen
gnomAD
CA6743464
rs745713661
2223 T>I No ClinGen
ExAC
gnomAD
rs774258450
CA6743463
2223 T>P No ClinGen
ExAC
gnomAD
TCGA novel 2225 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201141140
CA6743465
2226 G>A No ClinGen
ExAC
gnomAD
rs766523697
CA6743489
2231 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1318449487
CA386269155
2232 L>S No ClinGen
TOPMed
rs1322772093
CA386269165
2234 R>G No ClinGen
Ensembl
rs774571712
CA6743490
2234 R>T No ClinGen
ExAC
gnomAD
rs759771736
CA6743491
2235 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386269181
rs1227708285
2236 L>P No ClinGen
gnomAD
CA386269194
rs1330876766
2238 V>A No ClinGen
gnomAD
CA6743494
rs180780749
2239 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA242406084
rs766100227
2242 D>G No ClinGen
Ensembl
CA242406103
rs753771405
2245 M>T No ClinGen
gnomAD
CA6743499
rs778647982
2246 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6743497
rs753392000
2246 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA386269256
rs1458054936
2248 V>I No ClinGen
gnomAD
rs1348552915
CA386269263
2249 S>P No ClinGen
gnomAD
rs758085666
CA6743501
2249 S>Y No ClinGen
ExAC
gnomAD
CA6743502
rs142287605
2253 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743504
rs768579024
2257 S>N No ClinGen
ExAC
gnomAD
rs372457025
CA6743506
2258 E>K Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372457025
CA386269333
2258 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774397930
CA6743508
2259 P>R No ClinGen
ExAC
gnomAD
rs771023694
CA6743507
2259 P>S No ClinGen
ExAC
gnomAD
rs771023694
CA386269344
2259 P>T No ClinGen
ExAC
gnomAD
CA386269356
rs759773189
2260 A>P No ClinGen
ExAC
gnomAD
CA6743509
rs759773189
2260 A>S No ClinGen
ExAC
gnomAD
rs772232264
CA6743510
2262 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs772232264
CA386269378
2262 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs775909500
CA6743511
2263 Q>* No ClinGen
ExAC
gnomAD
CA6743512
rs761186850
2263 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA6743513
rs764628008
2264 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA6743514
rs754408117
2264 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs376562450
CA6743531
2268 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762374363
CA6743532
2273 L>I No ClinGen
ExAC
gnomAD
CA6743533
rs765726286
2274 D>E No ClinGen
ExAC
rs139827671
CA6743534
2275 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386270146
rs1390863865
2282 R>K No ClinGen
gnomAD
rs1441560158
CA386270164
2283 P>L No ClinGen
TOPMed
CA386270172
rs1413987690
2284 N>D No ClinGen
gnomAD
TCGA novel 2285 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762377711
CA6743535
2285 L>W No ClinGen
ExAC
gnomAD
CA386270209
rs1357388069
2286 E>A No ClinGen
gnomAD
rs766002145
CA6743536
2287 F>L No ClinGen
ExAC
gnomAD
CA6743538
rs754729985
2288 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs767269641
CA6743539
2293 N>H No ClinGen
ExAC
gnomAD
CA6743556
rs759167711
2294 Y>H No ClinGen
ExAC
gnomAD
CA242409794
rs1024283589
2295 E>K No ClinGen
TOPMed
gnomAD
CA242409804
rs143189050
2296 H>R No ClinGen
ESP
TOPMed
gnomAD
CA386270506
rs1411179830
2297 E>Q No ClinGen
gnomAD
rs1198690136
CA386270550
2300 R>T No ClinGen
TOPMed
CA6743561
rs753738063
2301 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1321254830
CA386270586
2303 T>I No ClinGen
gnomAD
rs758462810
CA6743562
2304 L>* No ClinGen
ExAC
gnomAD
rs1032802610
CA242409852
2308 A>T No ClinGen
TOPMed
gnomAD
CA6743567
rs139095183
2309 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242409879
rs988527920
2309 Y>N No ClinGen
Ensembl
CA386270650
rs139095183
2309 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6743568
rs149930556
2310 L>F No ClinGen
ESP
ExAC
TOPMed
rs1333312155
CA386270672
2311 F>S No ClinGen
TOPMed
CA6743570
rs749729594
2312 D>E No ClinGen
ExAC
gnomAD
rs1292308588
CA386270679
2312 D>G No ClinGen
gnomAD
TCGA novel 2312 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386270676
rs1208216424
2312 D>N No ClinGen
TOPMed
gnomAD
rs771517719
CA6743571
2313 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1377953817
CA386270714
2315 P>L No ClinGen
TOPMed
rs1482021096
CA386270710
2315 P>S No ClinGen
gnomAD
rs773838973
CA6743572
2316 Q>* No ClinGen
ExAC
gnomAD
CA6743573
rs759112591
2316 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs775080807
CA6743593
2320 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA6743594
rs760211652
2320 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs199641573
CA6743595
2322 N>S No ClinGen
1000Genomes
ExAC
COSM933948
CA6743597
rs142260891
2324 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA386270838
rs1434644685
2325 M>T No ClinGen
TOPMed
gnomAD
rs765212844
CA6743598
2326 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA6743600
rs759652491
2329 P>R No ClinGen
ExAC
gnomAD
CA6743599
rs750411580
2329 P>S No ClinGen
ExAC
gnomAD
rs1593454211
CA386270901
2331 C>S No ClinGen
Ensembl
CA242410049
rs1001374064
2332 L>R No ClinGen
TOPMed
rs752872426
CA6743602
2334 T>A No ClinGen
ExAC
gnomAD
CA6743603
rs756277930
2334 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1461606141
CA386270946
2336 N>D No ClinGen
TOPMed
gnomAD
CA386270948
rs1461606141
2336 N>H No ClinGen
TOPMed
gnomAD
rs778124444
CA6743604
2336 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs778124444
CA6743605
2336 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA386270962
rs1193237067
2337 D>G No ClinGen
gnomAD
rs1035562508
CA242410097
2337 D>N No ClinGen
TOPMed
gnomAD
rs369003885
COSM933949
CA6743606
2341 T>M endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6743608
rs746404453
2343 K>R No ClinGen
ExAC
gnomAD
rs1593454250
CA386271047
2345 M>T No ClinGen
Ensembl
rs779515157
CA6743610
2348 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA242410159
rs1045343901
2348 M>V No ClinGen
gnomAD
rs746583770
CA6743611
2351 K>N No ClinGen
ExAC
gnomAD
TCGA novel 2352 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743612
rs768185494
2354 L>H No ClinGen
ExAC
gnomAD
rs905440750
CA242410180
2355 G>C No ClinGen
Ensembl
rs1230886146
CA386271163
2357 I>V No ClinGen
gnomAD
CA386271173
rs1264940897
2358 S>G No ClinGen
gnomAD
CA6743615
rs769744992
COSM415674
2360 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1205416221
CA386271233
2363 D>N No ClinGen
TOPMed
gnomAD
CA386271244
rs1332571860
2364 W>G No ClinGen
TOPMed
rs80165298
CA242410200
2366 F>V No ClinGen
Ensembl
rs762963021
CA6743617
2367 D>H No ClinGen
ExAC
gnomAD
CA6743619
rs201064625
2368 M>K No ClinGen
ExAC
gnomAD
CA6743618
rs766484215
2368 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs750012163
CA242410231
2370 T>I No ClinGen
Ensembl
TCGA novel 2371 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386271289
rs1430642569
2371 T>P No ClinGen
gnomAD
CA386271303
rs1157361537
2372 W>C No ClinGen
gnomAD
CA386271336
rs1565808163
2377 K>R No ClinGen
Ensembl
rs760622502
COSM1232154
CA6743638
2378 R>C Variant assessed as Somatic; 0.0003698 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs573079112
CA6743641
2378 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs573079112
CA6743640
2378 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6743639
rs760622502
2378 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1370094219
CA386271733
2380 N>T No ClinGen
gnomAD
rs147856864
CA6743642
2381 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758763001
CA6743644
2384 A>G No ClinGen
ExAC
gnomAD
rs1033522898
CA242410959
2386 L>V No ClinGen
Ensembl
rs766750923
CA6743645
2387 I>M No ClinGen
ExAC
gnomAD
CA6743646
rs752142725
2390 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs80101191
CA6743647
2392 V>L No ClinGen
ExAC
gnomAD
CA386271889
rs1203553747
2393 E>G No ClinGen
gnomAD
CA386271911
rs780734087
2394 S>R No ClinGen
ExAC
gnomAD
CA6743649
rs747719423
2395 E>G No ClinGen
ExAC
gnomAD
CA386271948
rs1433615981
2397 V>A No ClinGen
TOPMed
CA386271950
rs1433615981
2397 V>G No ClinGen
TOPMed
CA6743652
rs376302667
2397 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 2398 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770779908
CA6743653
2402 R>I No ClinGen
ExAC
gnomAD
TCGA novel 2402 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386272024
rs1427921457
2403 L>F No ClinGen
gnomAD
rs1168176507
CA386272051
2405 T>S No ClinGen
gnomAD
CA386272075
rs1398625171
2409 V>M No ClinGen
TOPMed
rs1301989774
CA386272084
2410 I>T No ClinGen
gnomAD
rs200541979
CA242411035
2411 E>G No ClinGen
1000Genomes
gnomAD
rs200541979
CA386272090
2411 E>V No ClinGen
1000Genomes
gnomAD
rs199846837
CA242411042
2413 E>G No ClinGen
1000Genomes
CA242411051
rs967143108
2414 I>T No ClinGen
TOPMed
CA6743658
rs761945531
2418 N>D No ClinGen
ExAC
gnomAD
rs769933960
CA6743659
2420 K>R No ClinGen
ExAC
gnomAD
CA6743681
rs545303599
2423 M>L No ClinGen
1000Genomes
ExAC
gnomAD
CA386272189
rs1242776766
2423 M>T No ClinGen
gnomAD
rs1477775640
CA386272200
2424 E>D No ClinGen
gnomAD
rs773322137
CA6743682
2425 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1464178766
CA386272227
2428 E>G No ClinGen
gnomAD
TCGA novel 2432 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743684
COSM278062
rs771120382
2433 R>C upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6743685
rs147796377
2433 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386272292
rs1387654240
2438 F>V No ClinGen
gnomAD
CA6743686
rs759824701
2440 T>I No ClinGen
ExAC
gnomAD
rs768012945
CA6743687
2441 L>P No ClinGen
ExAC
gnomAD
CA6743688
rs753280046
2442 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1330714932
CA386272332
2444 K>N No ClinGen
gnomAD
rs760221379
CA6743689
2446 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA386272349
rs1156515622
2447 K>R No ClinGen
TOPMed
CA386272369
rs1407477803
2450 N>H No ClinGen
TOPMed
gnomAD
VAR_036275 2452 I>F a breast cancer sample; somatic mutation [UniProt] No UniProt
TCGA novel 2453 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763664877
CA6743690
2454 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6743691
rs370248060
2455 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1288050832
CA386272410
2455 T>P No ClinGen
gnomAD
rs375433227
CA242411567
2457 P>L No ClinGen
ESP
TOPMed
rs994190333
CA242411568
2458 A>T No ClinGen
TOPMed
CA386272522
rs1285283930
2465 W>* No ClinGen
gnomAD
CA242414051
rs898458244
2466 S>N No ClinGen
Ensembl
rs377707855
CA6743704
2466 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1047284531
CA242414087
2467 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs143659522
CA6743705
2469 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1249790153
CA386273334
2474 H>Q No ClinGen
gnomAD
rs1223117007
CA386273329
2474 H>Y No ClinGen
gnomAD
CA6743706
rs147638083
2479 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 2487 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242414099
rs1001252343
2488 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 2489 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386273518
rs1424805824
2490 L>F No ClinGen
gnomAD
CA6743708
rs761241707
2493 S>F No ClinGen
ExAC
gnomAD
rs371378555
CA6743709
2498 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1329897712
CA386273641
2499 L>V No ClinGen
TOPMed
gnomAD
CA242414106
rs756326544
2500 I>F No ClinGen
Ensembl
CA386273654
rs1340254085
2500 I>T No ClinGen
gnomAD
CA6743710
rs776272918
2501 Q>K No ClinGen
ExAC
gnomAD
CA6743711
rs761229316
2501 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA242414108
rs780186819
2503 W>G No ClinGen
gnomAD
CA6743712
rs116332299
2504 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242414119
rs1020137666
2505 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1337308543
CA386273742
2506 K>R No ClinGen
gnomAD
rs955245576
CA386273761
2507 K>N No ClinGen
gnomAD
CA386273757
rs1171377743
2507 K>R No ClinGen
gnomAD
rs1593456695
CA386273764
2508 T>P No ClinGen
Ensembl
CA6743715
rs766142512
2510 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA386273807
rs1273359798
2511 H>D No ClinGen
gnomAD
rs1593456703
CA386273811
2511 H>P No ClinGen
Ensembl
rs1593456711
CA386273829
2512 L>P No ClinGen
Ensembl
CA242414151
rs987143491
2513 P>L No ClinGen
TOPMed
rs1593456717
CA386273856
2514 E>D No ClinGen
Ensembl
rs373837810
CA6743717
2514 E>V No ClinGen
ExAC
gnomAD
rs1383144903
CA386273860
2515 P>S No ClinGen
gnomAD
rs1320648993
CA386273881
2516 V>G No ClinGen
TOPMed
gnomAD
rs140552393
CA242414158
2517 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140552393
CA6743718
2517 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6743719
rs749331612
2522 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6743721
rs779157503
2523 S>R No ClinGen
ExAC
gnomAD
rs974163391
CA242414187
2525 L>F No ClinGen
Ensembl
CA6743722
rs746045243
2527 Q>R No ClinGen
ExAC
gnomAD
rs772469775
CA6743723
2528 K>R No ClinGen
ExAC
gnomAD
COSM1188578
rs767396129
CA6743737
2529 M>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1456847915
CA386274138
2529 M>V No ClinGen
gnomAD
CA386274147
rs1387211827
2530 K>E No ClinGen
gnomAD
rs1382891635
CA386274158
2531 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386274161
rs1323013392
2532 I>L No ClinGen
gnomAD
CA386274170
rs1344748477
2533 S>A No ClinGen
gnomAD
CA6743740
rs756115922
2535 A>P No ClinGen
ExAC
gnomAD
rs756115922
CA6743739
2535 A>T No ClinGen
ExAC
gnomAD
rs1237862346
CA386274195
2537 C>G No ClinGen
gnomAD
rs1486543004
CA386274229
2540 L>M No ClinGen
gnomAD
rs750574576
CA6743741
2542 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs758688020
CA6743742
2543 K>E No ClinGen
ExAC
gnomAD
CA6743743
rs780424379
2545 L>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2546 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs528441378
CA6743745
2547 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs781693478
CA6743746
2547 Q>P No ClinGen
ExAC
rs1269828186
CA386274331
2550 G>R No ClinGen
TOPMed
gnomAD
CA6743769
rs751859465
2553 V>F No ClinGen
ExAC
rs111400774
CA242416742
2554 V>F No ClinGen
gnomAD
rs755302660
CA6743770
2555 K>N No ClinGen
ExAC
gnomAD
CA386274748
rs1456034352
2556 N>D No ClinGen
TOPMed
rs778766401
CA242416765
2557 L>S No ClinGen
Ensembl
CA6743771
rs781400772
2557 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1198811953
CA386274773
2558 L>S No ClinGen
TOPMed
CA6743773
rs770137347
2560 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1461440872
CA386274808
2562 K>E No ClinGen
gnomAD
rs1336290751
CA386274832
2564 L>S No ClinGen
gnomAD
CA386274853
rs1306246960
2566 L>S No ClinGen
TOPMed
rs372360583
CA6743776
2568 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs577332098
CA6743777
2571 C>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386274884
rs1247582657
2571 C>R No ClinGen
TOPMed
gnomAD
rs759163867
CA6743778
2571 C>W No ClinGen
ExAC
gnomAD
rs577332098
CA386274886
2571 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386274909
rs1292353017
2574 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1222919546
CA386274918
2575 Q>R No ClinGen
TOPMed
gnomAD
TCGA novel 2576 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743779
rs771813928
2577 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA386274940
rs1565810699
2578 I>K No ClinGen
Ensembl
CA386274950
rs1481198784
2579 K>N No ClinGen
gnomAD
CA386274973
rs1203248857
COSM933955
2583 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs760523340
CA6743781
2586 E>G No ClinGen
ExAC
gnomAD
COSM430162
rs200357157
CA6743780
2586 E>K Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs763876486
CA6743782
2587 A>V No ClinGen
ExAC
gnomAD
rs763083231
CA6743784
2593 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751749567
CA386275051
2594 C>S No ClinGen
ExAC
gnomAD
CA6743786
rs751749567
2594 C>Y No ClinGen
ExAC
gnomAD
CA386275069
rs1437283349
2597 E>K No ClinGen
TOPMed
rs969272691
CA242416924
2598 K>N No ClinGen
Ensembl
rs201781455
CA6743787
2599 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1178702326
CA386275095
2600 E>D No ClinGen
TOPMed
rs773719988
CA242416937
2601 S>P No ClinGen
gnomAD
CA242416940
CA6743790
rs369203212
2602 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375163803
CA6743791
2603 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 2604 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386275127
rs1209923636
2605 E>D No ClinGen
TOPMed
TCGA novel 2607 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1593458399
CA386275156
2609 V>G No ClinGen
Ensembl
CA386275154
rs1283119641
2609 V>L No ClinGen
TOPMed
CA6743793
rs1061436
2612 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1061436
CA6743792
VAR_022163
2612 E>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1310150445
CA386275185
2613 L>P No ClinGen
TOPMed
TCGA novel 2614 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743795
rs148427016
2614 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386275200
rs1593458426
2616 P>A No ClinGen
Ensembl
rs141701848
CA6743796
2616 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6743798
rs746728087
2617 A>S No ClinGen
ExAC
gnomAD
CA242417017
rs746728087
2617 A>T No ClinGen
ExAC
gnomAD
CA6743799
rs768524022
2618 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1241590244
CA386275216
2619 L>P No ClinGen
gnomAD
CA386275219
rs1379613522
2620 L>V No ClinGen
TOPMed
CA386275226
rs1348034116
2621 W>* No ClinGen
Ensembl
CA6743804
rs759679612
2625 K>Q No ClinGen
ExAC
gnomAD
rs1006467136
CA242417067
2625 K>R No ClinGen
TOPMed
gnomAD
CA6743805
rs767586083
2626 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1253674503
CA386275261
2626 L>V No ClinGen
TOPMed
CA6743808
rs764421472
2628 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6743806
COSM278063
rs752995039
2628 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs559137147
CA242417089
2629 I>T No ClinGen
gnomAD
CA6743810
rs757755764
2630 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1341625463
CA386275284
2631 K>Q No ClinGen
gnomAD
rs759674615
CA6743811
2632 L>P No ClinGen
ExAC
gnomAD
CA242417134
rs1026146122
2636 Y>C No ClinGen
TOPMed
gnomAD
rs1565810788
CA386275327
2637 S>L No ClinGen
Ensembl
CA6743814
rs779529045
2638 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768240288
CA6743816
2640 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs776566190
CA6743817
2641 P>T No ClinGen
ExAC
gnomAD
rs1488539667
CA386275356
2642 L>S No ClinGen
gnomAD
rs762178863
CA6743828
2646 C>G No ClinGen
ExAC
gnomAD
rs1317079186
CA386275403
2647 I>V No ClinGen
TOPMed
rs765683951
CA386275415
2648 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs910454283
CA242417355
2652 G>S No ClinGen
gnomAD
rs779591681
COSM199570
CA6743832
2653 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs914254454
CA242417382
2654 V>A No ClinGen
TOPMed
COSM1270129
rs147838898
CA6743834
2654 V>I oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781008844
CA6743835
2655 A>V No ClinGen
ExAC
gnomAD
rs747907268
CA6743836
2656 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2659 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200707485
CA6743838
2660 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242417412
rs1037554700
2660 I>V No ClinGen
Ensembl
CA386275496
rs1444625915
2661 D>E No ClinGen
gnomAD
CA386275506
rs1170048931
2663 V>I No ClinGen
TOPMed
CA386275508
rs1170048931
2663 V>L No ClinGen
TOPMed
rs770832540
CA6743840
2665 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 2667 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs901629445
CA242417442
2667 L>P No ClinGen
TOPMed
TCGA novel 2668 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6743844
rs776859795
2669 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA6743843
rs139767850
2669 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1328636180
CA386275561
2671 I>T No ClinGen
gnomAD
CA6743845
rs577369061
2671 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1200114435
CA386275564
2672 A>T No ClinGen
TOPMed
gnomAD
rs1443659312
CA386275570
2673 P>S No ClinGen
gnomAD
rs1181157603
CA386275581
2674 L>F No ClinGen
gnomAD
CA6743847
rs750799541
2676 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765551216
CA6743846
2676 R>W No ClinGen
ExAC
gnomAD
rs763500617
CA6743848
2678 L>F No ClinGen
ExAC
gnomAD
CA386275605
rs1394760783
2678 L>P No ClinGen
gnomAD
rs374273784
CA242417496
2680 S>N No ClinGen
Ensembl
CA386275622
rs1593458700
2681 T>P No ClinGen
Ensembl
rs1405561915
CA386275631
2682 Y>C No ClinGen
gnomAD
rs1332501213
CA386275629
2682 Y>H No ClinGen
gnomAD
rs1341213386
CA386275658
2686 D>N No ClinGen
gnomAD
rs1220579474
CA386276186
2690 K>* No ClinGen
gnomAD
CA6743867
rs766861815
2690 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA386276188
rs766861815
2690 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA6743868
rs774752571
2691 N>S No ClinGen
ExAC
gnomAD
rs760164413
CA6743869
2693 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149907561
CA6743870
2695 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386276216
rs1256166008
2695 E>K No ClinGen
gnomAD
CA6743872
rs755827583
2697 I>M No ClinGen
ExAC
gnomAD
rs149982185
CA6743871
2697 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386276268
rs1482509013
2702 K>R No ClinGen
gnomAD
CA6743876
rs778866140
2703 L>P No ClinGen
ExAC
gnomAD
rs1156828621
CA386276276
2704 V>I No ClinGen
gnomAD
rs1387236946
CA386276323
2710 S>L No ClinGen
gnomAD
rs1344606653
CA386276355
2714 A>T No ClinGen
gnomAD
TCGA novel 2714 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1402834846
CA386276411
2717 Q>H No ClinGen
gnomAD
rs1269279507
CA386276459
2720 A>V No ClinGen
TOPMed
rs374626049
CA6743879
2722 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374626049
CA6743880
2722 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743881
rs770002866
2725 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6743883
rs182798292
2727 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6743884
rs771169465
2727 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6743882
rs182798292
2727 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386276567
rs1291741135
2728 K>Q No ClinGen
gnomAD
rs774908710
CA6743885
2729 K>N No ClinGen
ExAC
gnomAD
TCGA novel 2729 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768208738
CA6743887
2732 A>V No ClinGen
ExAC
gnomAD
CA386276673
rs1180008829
2733 L>V No ClinGen
gnomAD
rs1037027870
CA242419076
2734 E>Q No ClinGen
TOPMed
gnomAD
CA242419223
rs975315153
2736 V>A No ClinGen
TOPMed
CA386276788
rs1240222580
2737 T>I No ClinGen
gnomAD
rs776670472
CA242419227
2738 N>T No ClinGen
Ensembl
rs1236812381
CA386276824
2739 P>L No ClinGen
TOPMed
CA6743894
rs550346514
2739 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA6743895
rs750276172
2740 D>Y No ClinGen
ExAC
TOPMed
CA386276897
rs1422369447
2744 K>M No ClinGen
gnomAD
rs779969473
CA6743897
2744 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1166902251 2747 M>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA386276932
rs1461328972
2747 M>V No ClinGen
gnomAD
CA386276962
rs1329084693
2749 K>T No ClinGen
gnomAD
CA6743899
rs756180074
2750 H>Y No ClinGen
ExAC
gnomAD
rs1447073665
CA386276983
2751 K>Q No ClinGen
gnomAD
CA386277038
rs1335405859
2756 A>P No ClinGen
gnomAD
CA6743900
rs777948688
2757 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA6743901
rs749453497
2758 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs749453497
CA242419247
2758 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1231816913
CA386277057
2759 R>K No ClinGen
TOPMed
rs143303905
CA6743907
2762 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1324701915
CA386277085
2763 F>L No ClinGen
TOPMed
CA6743908
rs118052100
2765 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6743909
rs746241915
2766 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA386277110
rs1391070238
2767 G>E No ClinGen
TOPMed
CA6743910
rs370882773
2769 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6743911
rs776160013
2769 K>T No ClinGen
ExAC
gnomAD
CA242419293
rs535706848
2770 A>T No ClinGen
1000Genomes
gnomAD
rs1175335991
CA386277139
2771 K>N No ClinGen
TOPMed
gnomAD
rs79372140
CA242419307
2773 Q>K No ClinGen
Ensembl
rs1449533387
CA386277150
2773 Q>R No ClinGen
gnomAD
rs1302944672
CA386277190
2778 L>R No ClinGen
gnomAD
rs1280490446
CA386277198
2779 K>N No ClinGen
gnomAD
CA386277191
rs1398704705
2779 K>Q No ClinGen
gnomAD
rs1473726669
CA386277203
2780 D>G No ClinGen
TOPMed
CA386277216
rs1223114627
2782 A>P No ClinGen
gnomAD
CA386277218
rs1261541847
2782 A>V No ClinGen
gnomAD
rs768015734
CA6743913
2783 M>V No ClinGen
ExAC
gnomAD
rs1402018618
CA386277232
2784 V>G No ClinGen
gnomAD
CA386277228
rs1370908623
2784 V>M No ClinGen
TOPMed
CA6743914
rs140645724
2785 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with O75691

2 regional properties for O75691

Type Name Position InterPro Accession
domain U3 small nucleolar RNA-associated protein 20, N-terminal 910 - 1533 IPR011430
domain U3 small nucleolar RNA-associated protein 20, C-terminal 1813 - 2030 IPR046523

Functions

Description
EC Number
Subcellular Localization
  • Nucleus, nucleolus
  • Colocalizes with NCL in the nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
90S preribosome A large ribonucleoprotein complex considered to be the earliest preribosomal complex. In S. cerevisiae, it has a size of 90S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
preribosome, small subunit precursor A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit.
small-subunit processome A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.

1 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name Definition
endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Endonucleolytic cleavage within the 5'-External Transcribed Spacer (ETS) of a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript. Endonucleolytic cleavage within the 5'-ETS of the pre-RNA is conserved as one of the early steps of rRNA processing in all eukaryotes, but the specific position of cleavage is variable.
endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Endonucleolytic cleavage between the SSU-rRNA and the 5.8S rRNA of an rRNA molecule originally produced as a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript.
endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Endonucleolytic cleavage between the 5'-External Transcribed Spacer (5'-ETS) and the 5' end of the SSU-rRNA of a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript, to produce the mature end of the SSU-rRNA.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
rRNA processing Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P35194 UTP20 U3 small nucleolar RNA-associated protein 20 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
10 20 30 40 50 60
MKTKPVSHKT ENTYRFLTFA ERLGNVNIDI IHRIDRTASY EEEVETYFFE GLLKWRELNL
70 80 90 100 110 120
TEHFGKFYKE VIDKCQSFNQ LVYHQNEIVQ SLKTHLQVKN SFAYQPLLDL VVQLARDLQM
130 140 150 160 170 180
DFYPHFPEFF LTITSILETQ DTELLEWAFT SLSYLYKYLW RLMVKDMSSI YSMYSTLLAH
190 200 210 220 230 240
KKLHIRNFAA ESFTFLMRKV SDKNALFNLM FLDLDKHPEK VEGVGQLLFE MCKGVRNMFH
250 260 270 280 290 300
SCTGQAVKLI LRKLGPVTET ETQLPWMLIG ETLKNMVKST VSYISKEHFG TFFECLQESL
310 320 330 340 350 360
LDLHTKVTKT NCCESSEQIK RLLETYLILV KHGSGTKIPT PADVCKVLSQ TLQVASLSTS
370 380 390 400 410 420
CWETLLDVIS ALILGENVSL PETLIKETIE KIFESRFEKR LIFSFSEVMF AMKQFEQLFL
430 440 450 460 470 480
PSFLSYIVNC FLIDDAVVKD EALAILAKLI LNKAAPPTAG SMAIEKYPLV FSPQMVGFYI
490 500 510 520 530 540
KQKKTRSKGR NEQFPVLDHL LSIIKLPPNK DTTYLSQSWA ALVVLPHIRP LEKEKVIPLV
550 560 570 580 590 600
TGFIEALFMT VDKGSFGKGN LFVLCQAVNT LLSLEESSEL LHLVPVERVK NLVLTFPLEP
610 620 630 640 650 660
SVLLLTDLYY QRLALCGCKG PLSQEALMEL FPKLQANIST GVSKIRLLTI RILNHFDVQL
670 680 690 700 710 720
PESMEDDGLS ERQSVFAILR QAELVPATVN DYREKLLHLR KLRHDVVQTA VPDGPLQEVP
730 740 750 760 770 780
LRYLLGMLYI NFSALWDPVI ELISSHAHEM ENKQFWKVYY EHLEKAATHA EKELQNDMTD
790 800 810 820 830 840
EKSVGDESWE QTQEGDVGAL YHEQLALKTD CQERLDHTNF RFLLWRALTK FPERVEPRSR
850 860 870 880 890 900
ELSPLFLRFI NNEYYPADLQ VAPTQDLRRK GKGMVAEEIE EEPAAGDDEE LEEEAVPQDE
910 920 930 940 950 960
SSQKKKTRRA AAKQLIAHLQ VFSKFSNPRA LYLESKLYEL YLQLLLHQDQ MVQKITLDCI
970 980 990 1000 1010 1020
MTYKHPHVLP YRENLQRLLE DRSFKEEIVH FSISEDNAVV KTAHRADLFP ILMRILYGRM
1030 1040 1050 1060 1070 1080
KNKTGSKTQG KSASGTRMAI VLRFLAGTQP EEIQIFLDLL FEPVRHFKNG ECHSAVIQAV
1090 1100 1110 1120 1130 1140
EDLDLSKVLP LGRQHGILNS LEIVLKNISH LISAYLPKIL QILLCMTATV SHILDQREKI
1150 1160 1170 1180 1190 1200
QLRFINPLKN LRRLGIKMVT DIFLDWESYQ FRTEEIDAVF HGAVWPQISR LGSESQYSPT
1210 1220 1230 1240 1250 1260
PLLKLISIWS RNARYFPLLA KQKPGHPECD ILTNVFAILS AKNLSDATAS IVMDIVDDLL
1270 1280 1290 1300 1310 1320
NLPDFEPTET VLNLLVTGCV YPGIAENIGE SITIGGRLIL PHVPAILQYL SKTTISAEKV
1330 1340 1350 1360 1370 1380
KKKKNRAQVS KELGILSKIS KFMKDKEQSS VLITLLLPFL HRGNIAEDTE VDILVTVQNL
1390 1400 1410 1420 1430 1440
LKHCVDPTSF LKPIAKLFSV IKNKLSRKLL CTVFETLSDF ESGLKYITDV VKLNAFDQRH
1450 1460 1470 1480 1490 1500
LDDINFDVRF ETFQTITSYI KEMQIVDVNY LIPVMHNCFY NLELGDMSLS DNASMCLMSI
1510 1520 1530 1540 1550 1560
IKKLAALNVT EKDYREIIHR SLLEKLRKGL KSQTESIQQD YTTILSCLIQ TFPNQLEFKD
1570 1580 1590 1600 1610 1620
LVQLTHYHDP EMDFFENMKH IQIHRRARAL KKLAKQLMEG KVVLSSKSLQ NYIMPYAMTP
1630 1640 1650 1660 1670 1680
IFDEKMLKHE NITTAATEII GAICKHLSWS AYMYYLKHFI HVLQTGQINQ KLGVSLLVIV
1690 1700 1710 1720 1730 1740
LEAFHFDHKT LEEQMGKIEN EENAIEAIEL PEPEAMELER VDEEEKEYTC KSLSDNGQPG
1750 1760 1770 1780 1790 1800
TPDPADSGGT SAKESECITK PVSFLPQNKE EIERTIKNIQ GTITGDILPR LHKCLASTTK
1810 1820 1830 1840 1850 1860
REEEHKLVKS KVVNDEEVVR VPLAFAMVKL MQSLPQEVME ANLPSILLKV CALLKNRAQE
1870 1880 1890 1900 1910 1920
IRDIARSTLA KIIEDLGVHF LLYVLKELQT TLVRGYQVHV LTFTVHMLLQ GLTNKLQVGD
1930 1940 1950 1960 1970 1980
LDSCLDIMIE IFNHELFGAV AEEKEVKQIL SKVMEARRSK SYDSYEILGK FVGKDQVTKL
1990 2000 2010 2020 2030 2040
ILPLKEILQN TTSLKLARKV HETLRRITVG LIVNQEMTAE SILLLSYGLI SENLPLLTEK
2050 2060 2070 2080 2090 2100
EKNPVAPAPD PRLPPQSCLL LPPTPVRGGQ KAVVSRKTNM HIFIESGLRL LHLSLKTSKI
2110 2120 2130 2140 2150 2160
KSSGECVLEM LDPFVSLLID CLGSMDVKVI TGALQCLIWV LRFPLPSIET KAEQLTKHLF
2170 2180 2190 2200 2210 2220
LLLKDYAKLG AARGQNFHLV VNCFKCVTIL VKKVKSYQIT EKQLQVLLAY AEEDIYDTSR
2230 2240 2250 2260 2270 2280
QATAFGLLKA ILSRKLLVPE IDEVMRKVSK LAVSAQSEPA RVQCRQVFLK YILDYPLGDK
2290 2300 2310 2320 2330 2340
LRPNLEFMLA QLNYEHETGR ESTLEMIAYL FDTFPQGLLH ENCGMFFIPL CLMTINDDSA
2350 2360 2370 2380 2390 2400
TCKKMASMTI KSLLGKISLE KKDWLFDMVT TWFGAKKRLN RQLAALICGL FVESEGVDFE
2410 2420 2430 2440 2450 2460
KRLGTVLPVI EKEIDPENFK DIMEETEEKA ADRLLFSFLT LITKLIKECN IIQFTKPAET
2470 2480 2490 2500 2510 2520
LSKIWSHVHS HLRHPHNWVW LTAAQIFGLL FASCQPEELI QKWNTKKTKK HLPEPVAIKF
2530 2540 2550 2560 2570 2580
LASDLDQKMK SISLASCHQL HSKFLDQSLG EQVVKNLLFA AKVLYLLELY CEDKQSKIKE
2590 2600 2610 2620 2630 2640
DLEEQEALED GVACADEKAE SDGEEKEEVK EELGRPATLL WLIQKLSRIA KLEAAYSPRN
2650 2660 2670 2680 2690 2700
PLKRTCIFKF LGAVAMDLGI DKVKPYLPMI IAPLFRELNS TYSEQDPLLK NLSQEIIELL
2710 2720 2730 2740 2750 2760
KKLVGLESFS LAFASVQKQA NEKRALRKKR KALEFVTNPD IAAKKKMKKH KNKSEAKKRK
2770 2780
IEFLRPGYKA KRQKSHSLKD LAMVE