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

12 structures for O00763

Entry ID Method Resolution Chain Position Source
2DN8 NMR - A 885-971 PDB
2HJW X-ray 250 A A 217-775 PDB
2KCC NMR - A 891-965 PDB
3FF6 X-ray 319 A A/B/C/D 1693-2450 PDB
3GID X-ray 230 A A/B 238-760 PDB
3GLK X-ray 210 A A 238-760 PDB
3JRW X-ray 260 A A 217-775 PDB
3JRX X-ray 250 A A 217-775 PDB
3TDC X-ray 241 A A 1690-2445 PDB
4HQ6 X-ray 270 A A 217-776 PDB
5KKN X-ray 260 A B/C 238-760 PDB
AF-O00763-F1 Predicted AlphaFoldDB

2144 variants for O00763

Variant ID(s) Position Change Description Diseaes Association Provenance
rs2044635183
RCV001291444
655 S>G Autism spectrum disorder [ClinVar] Yes ClinVar
dbSNP
rs757532146
CA6772853
2 V>F No ClinGen
ExAC
gnomAD
CA6772854
rs753987065
CA6772855
3 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs765824239
CA6772856
4 L>F No ClinGen
ExAC
gnomAD
CA386459012
rs1160656072
4 L>P No ClinGen
gnomAD
CA6772858
COSM430281
rs376872449
9 C>F Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386459042
rs376872449
9 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6772859
rs376872449
9 C>Y Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6772860
rs370340277
13 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6772861
rs754732999
14 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA386459070
rs754732999
14 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA6772862
rs780843060
14 C>Y No ClinGen
ExAC
gnomAD
CA6772863
rs747698774
16 T>N No ClinGen
ExAC
gnomAD
rs144316349
CA6772865
17 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1292643887
CA386459125
20 L>I No ClinGen
TOPMed
rs1205070780
CA386459142
21 K>Q No ClinGen
TOPMed
rs749213609
CA6772867
24 G>R No ClinGen
ExAC
gnomAD
rs1468809525
CA386459202
25 K>N No ClinGen
gnomAD
rs770693620
CA6772869
27 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA6772868
rs770693620
27 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1197918261
CA386459217
27 T>P No ClinGen
gnomAD
TCGA novel 30 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6772872
rs776672844
31 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA386459327
rs776672844
31 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA386459397
rs1370263523
34 K>T No ClinGen
gnomAD
CA6772875
rs750878973
35 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs766749273
CA6772877
36 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs766749273
CA386459429
36 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA386459448
rs1449416193
38 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1406432298
CA386459466
39 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6772879
rs527664804
40 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1593385580
CA386459485
40 N>T No ClinGen
Ensembl
rs767325347
CA6772880
41 L>P No ClinGen
ExAC
gnomAD
CA386459521
rs1393935663
42 I>M No ClinGen
gnomAD
rs142445607
CA6772881
43 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 43 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386459556
rs1217523404
45 Q>E No ClinGen
gnomAD
rs139767464
RCV000971937
CA6772883
45 Q>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386459574
rs1319943340
46 E>K No ClinGen
TOPMed
gnomAD
rs531976358
CA6772884
47 P>H No ClinGen
1000Genomes
ExAC
gnomAD
CA243379632
rs1033644454
49 P>L No ClinGen
TOPMed
CA386459625
rs1033644454
49 P>Q No ClinGen
TOPMed
CA243379631
rs905134619
49 P>T No ClinGen
gnomAD
CA386459670
rs756710601
52 D>E No ClinGen
TOPMed
gnomAD
rs550116625
CA6772885
55 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1475560239
CA386459730
56 E>G No ClinGen
gnomAD
rs778648797
CA6772886
57 T>A No ClinGen
ExAC
gnomAD
rs769946341
COSM1739937
CA6772888
58 P>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs769946341
CA6772889
58 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386459763
rs769946341
58 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 60 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386459804
rs1593385748
61 N>K No ClinGen
Ensembl
rs769849813
CA386459808
62 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs769849813
CA6772891
62 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1329869338
CA386459829
65 H>R No ClinGen
gnomAD
CA6772892
rs773226498
66 T>I No ClinGen
ExAC
gnomAD
CA386459832
rs1593385776
66 T>P No ClinGen
Ensembl
CA6772893
rs763514954
67 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6772895
rs375344890
70 T>I No ClinGen
ESP
ExAC
gnomAD
CA243379678
rs866351563
71 P>S No ClinGen
Ensembl
TCGA novel 73 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1342223412
CA386459924
74 A>P No ClinGen
gnomAD
rs1342223412
CA386459919
74 A>T No ClinGen
gnomAD
rs755735357
CA6772899
75 E>K No ClinGen
ExAC
gnomAD
CA386459960
rs1261728583
76 P>S No ClinGen
TOPMed
CA386460022
rs1486134700
80 K>E No ClinGen
gnomAD
rs753327617
CA6772903
82 P>S No ClinGen
ExAC
CA6772905
rs778771224
84 D>N No ClinGen
ExAC
gnomAD
rs371386144
CA6772908
86 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769981426
CA243379727
87 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6772910
rs769981426
87 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs551468976
CA6772909
87 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200591816
CA6772913
88 R>Q Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140156252
CA6772912
88 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM934694
rs774959869
CA6772914
89 R>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386460221
rs1365446192
93 P>L No ClinGen
TOPMed
gnomAD
rs767936750
CA6772917
COSM1721422
94 P>L NS [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1348793127
CA386460279
97 Q>K No ClinGen
gnomAD
rs763702236
CA6772920
99 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs753548861
CA6772921
100 P>A No ClinGen
ExAC
gnomAD
rs201767549
CA6772923
102 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386460357
rs1487797108
105 S>F No ClinGen
gnomAD
rs758383786
CA6772926
109 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA6772927
rs758383786
109 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 116 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347990740
CA386460440
118 N>S No ClinGen
gnomAD
rs771068523
CA6772932
119 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1205894206
CA386460478
124 G>D No ClinGen
TOPMed
CA386460475
rs1365009684
124 G>S No ClinGen
gnomAD
rs951672585
CA243379831
125 L>P No ClinGen
TOPMed
gnomAD
rs149916132
CA386460491
126 E>D No ClinGen
ESP
TOPMed
rs1353133373
CA386460486
126 E>Q No ClinGen
gnomAD
rs1224349958
CA386460512
128 T>A No ClinGen
gnomAD
CA386460529
rs1289244176
129 D>Y No ClinGen
gnomAD
CA6772934
rs746364518
130 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6772935
rs145000590
130 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386460634
rs1254232341
136 S>A No ClinGen
gnomAD
CA6772936
rs149092322
137 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769094389
CA6772938
138 R>S No ClinGen
ExAC
gnomAD
rs760897574
CA6772937
138 R>T No ClinGen
ExAC
gnomAD
CA6772939
rs776077835
139 P>L No ClinGen
ExAC
gnomAD
rs761464809
CA6772940
140 Q>R No ClinGen
ExAC
gnomAD
CA243379860
rs1002257498
141 G>S No ClinGen
TOPMed
rs1593386365
CA386460728
142 Q>* No ClinGen
Ensembl
CA6772942
rs201076011
142 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1165537149
CA386460789
145 G>D No ClinGen
gnomAD
rs766355541
CA6772944
148 S>Y No ClinGen
ExAC
gnomAD
rs1337686177
CA386460846
149 K>E No ClinGen
gnomAD
CA386460881
rs1443197697
151 D>N No ClinGen
gnomAD
TCGA novel 152 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386461054
rs1274313088
160 Q>* No ClinGen
gnomAD
CA386461114
rs754691654
162 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA6772947
rs754691654
162 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA6772948
rs577730043
164 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1275558780
CA386461161
165 F>L No ClinGen
TOPMed
gnomAD
rs1389153480
CA386461180
166 I>V No ClinGen
gnomAD
CA386461222
rs1438828145
169 S>P No ClinGen
gnomAD
CA386461257
rs1186389914
171 D>E No ClinGen
gnomAD
CA386461262
rs1475886067
172 D>G No ClinGen
gnomAD
rs1235433928
CA386461260
172 D>Y No ClinGen
gnomAD
CA6772950
rs757611160
173 Y>C No ClinGen
ExAC
gnomAD
rs753949478
CA6772949
173 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA386461266
rs753949478
173 Y>N No ClinGen
ExAC
TOPMed
gnomAD
CA6772951
rs200440063
174 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA386461274
rs1308392719
174 S>P No ClinGen
TOPMed
gnomAD
CA6772953
rs772298957
176 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6772954
rs772298957
176 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6772957
rs777108289
177 E>G No ClinGen
ExAC
gnomAD
CA6772956
rs199642143
177 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1416647816
CA386461314
178 D>H No ClinGen
gnomAD
CA386461374
rs1340381824
181 A>V No ClinGen
gnomAD
CA243379928
rs961248756
182 G>D No ClinGen
TOPMed
CA386461377
rs1217336608
182 G>S No ClinGen
gnomAD
CA386461403
rs1340472855
183 S>L No ClinGen
gnomAD
CA6772960
COSM1358576
rs772690862
185 R>C biliary_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs147024369
CA6772961
185 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6772962
rs147024369
185 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1593386710
CA386461456
187 S>P No ClinGen
Ensembl
rs1486454889
CA386461469
188 T>P No ClinGen
gnomAD
CA6772963
rs118018469
189 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA243379937
rs997993423
189 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA386461497
rs1476587747
190 K>E No ClinGen
gnomAD
CA6772965
rs201599513
191 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA386461535
rs1319263037
192 S>C No ClinGen
TOPMed
CA386461538
rs1424041266
192 S>I No ClinGen
TOPMed
CA386461550
rs1477550372
193 R>G No ClinGen
TOPMed
gnomAD
VAR_062667 193 R>L a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] No UniProt
CA6772966
rs767203808
193 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1477550372
CA386461552
193 R>W No ClinGen
TOPMed
gnomAD
CA386461572
rs752604541
194 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1373806485
CA386461566
194 A>T No ClinGen
gnomAD
rs752604541
CA6772967
194 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 198 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6772968
rs757531247
198 A>T No ClinGen
ExAC
gnomAD
TCGA novel 198 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386461642
rs1320815668
201 L>P No ClinGen
gnomAD
rs1252666278
CA386461646
202 E>K No ClinGen
gnomAD
CA6772970
rs750704133
204 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA386461797
rs1242302544
208 G>R No ClinGen
TOPMed
rs780194137
CA6772972
211 E>D No ClinGen
ExAC
gnomAD
CA6772971
rs191751311
211 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1234550776
CA386461908
212 T>N No ClinGen
gnomAD
COSM1510762
rs747456016
CA6772973
213 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs560908915
CA6772974
213 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373214045
COSM934695
CA6772976
214 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1450979137
CA386462006
216 T>A No ClinGen
gnomAD
CA6772977
rs770169502
217 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 218 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386466972
rs1434094294
218 R>S No ClinGen
TOPMed
CA6772993
rs17848820
219 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 220 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386467029
rs1397361680
221 M>T No ClinGen
gnomAD
rs778125313
CA6772995
221 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6772996
rs748928594
222 S>L No ClinGen
ExAC
gnomAD
CA243394205
rs373292549
223 G>E No ClinGen
TOPMed
gnomAD
CA243394207
rs373292549
223 G>V No ClinGen
TOPMed
gnomAD
CA243394214
rs527512063
224 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA6772998
rs527512063
224 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs745333353
CA6772999
225 H>Y No ClinGen
ExAC
gnomAD
rs775499731
CA6773001
227 V>M No ClinGen
ExAC
gnomAD
rs760700219
CA6773002
229 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs768555581
CA243394263
229 R>S No ClinGen
ExAC
gnomAD
CA386467176
rs528602761
231 R>G No ClinGen
TOPMed
gnomAD
rs776631835
CA6773004
COSM200736
231 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA243394266
rs528602761
231 R>W No ClinGen
TOPMed
gnomAD
CA6773005
rs141887668
234 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs990499643
CA243394301
236 L>P No ClinGen
TOPMed
TCGA novel 237 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386467340
rs1565880437
239 H>R No ClinGen
Ensembl
CA386467389
rs1193892503
241 D>E No ClinGen
TOPMed
CA386467373
rs1185924009
241 D>N No ClinGen
gnomAD
rs1457087688
CA386467403
242 F>V No ClinGen
TOPMed
CA386467431
rs1437884886
244 V>A No ClinGen
TOPMed
COSM1181495
CA6773010
rs753146594
244 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1565880484
CA386467441
245 A>V No ClinGen
Ensembl
CA6773011
rs756674820
247 P>S No ClinGen
ExAC
gnomAD
rs781314104
CA6773014
248 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs781314104
CA6773013
248 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778588229
CA6773015
249 E>G No ClinGen
ExAC
CA6773017
rs745510148
250 F>C No ClinGen
ExAC
gnomAD
rs1593448395
CA386467493
250 F>V No ClinGen
Ensembl
rs771552176
CA6773018
252 T>I No ClinGen
ExAC
gnomAD
rs149394526
CA6773020
253 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149394526
CA386467528
253 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773021
rs146370716
253 R>H No ClinGen
ESP
ExAC
gnomAD
rs768750072
CA6773022
254 F>S No ClinGen
ExAC
gnomAD
CA6773025
rs146426104
255 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146426104
CA6773024
255 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386467556
rs1376532694
255 G>W No ClinGen
TOPMed
rs774568250
CA6773027
256 G>E No ClinGen
ExAC
gnomAD
COSM117329
CA386467564
rs1355122797
256 G>R ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs768607691 257 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs768607691 257 D>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA243394499
rs998573576
257 D>N No ClinGen
TOPMed
gnomAD
CA386467570
rs998573576
257 D>Y No ClinGen
TOPMed
gnomAD
CA6773029
rs144515904
258 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759694366
CA6773028
258 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146179662
CA6773031
261 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780584088
CA6773059
263 V>G No ClinGen
ExAC
gnomAD
COSM3687937
CA6773058
rs754475585
263 V>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1211963744
CA386467645
267 N>T No ClinGen
TOPMed
CA6773062
rs533919628
269 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs533919628
CA243395395
269 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6773063
rs749130358
271 A>G No ClinGen
ExAC
gnomAD
rs1252965239
CA386467671
271 A>T No ClinGen
TOPMed
gnomAD
rs749130358
CA243395410
271 A>V No ClinGen
ExAC
gnomAD
rs775622765
CA6773065
272 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6773067
rs768707560
273 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776640811
CA6773068
275 C>Y No ClinGen
ExAC
gnomAD
CA386467700
rs1164093227
276 M>L No ClinGen
gnomAD
rs368005004
CA6773069
276 M>T No ClinGen
ESP
ExAC
TOPMed
rs370590640
CA6773070
277 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM278567
CA6773071
rs773787420
277 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs763366636
CA6773072
278 S>C No ClinGen
ExAC
gnomAD
CA6773073
rs763366636
278 S>F No ClinGen
ExAC
gnomAD
rs1460449551
CA386467723
280 R>C No ClinGen
TOPMed
rs754737585
CA6773075
280 R>H No ClinGen
ExAC
gnomAD
rs754737585
CA6773076
280 R>P No ClinGen
ExAC
gnomAD
rs1375580583
CA386467735
282 W>* No ClinGen
gnomAD
rs1187424946
CA386467741
283 A>T No ClinGen
gnomAD
CA386467751
rs1224433870
284 Y>C No ClinGen
gnomAD
TCGA novel 285 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386467782
rs1215870490
288 R>C No ClinGen
TOPMed
gnomAD
CA6773080
rs777523810
288 R>H Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243395557
rs150967404
289 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM223588
rs756987109
CA6773082
290 E>K Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs778738335
CA6773083
291 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386467800
rs1268082822
291 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1479984413
CA386467805
292 A>D No ClinGen
TOPMed
CA6773084
rs747227529
292 A>S No ClinGen
ExAC
gnomAD
CA386467809
rs1277382971
293 I>V No ClinGen
TOPMed
CA6773086
rs781305786
294 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs144382279
CA6773085
294 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs990365203
CA243395589
298 M>I No ClinGen
TOPMed
gnomAD
rs1408035343
CA386467842
298 M>T No ClinGen
TOPMed
gnomAD
CA386467839
rs1395471639
298 M>V No ClinGen
gnomAD
rs1442947187
CA386467849
299 V>A No ClinGen
gnomAD
CA6773088
rs573637382
299 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6773089
rs573637382
299 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386467859
rs1292751431
301 P>S No ClinGen
TOPMed
gnomAD
rs763571331
CA6773090
302 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs763571331
CA386467864
302 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA243395665
rs774926883
303 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA6773092
rs774926883
303 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA386467876
rs1172028568
304 L>F No ClinGen
TOPMed
CA243395696
rs201630101
305 K>M No ClinGen
Ensembl
CA6773093
rs759233676
305 K>N No ClinGen
ExAC
gnomAD
rs1274617682
CA386467891
306 A>D No ClinGen
gnomAD
CA6773094
rs767124185
307 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs78715638
CA6773096
308 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763672231
CA6773097
308 A>V No ClinGen
ExAC
gnomAD
CA386468992
rs1173214456
309 E>A No ClinGen
gnomAD
TCGA novel 312 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386469029
rs1436610572
313 M>I No ClinGen
gnomAD
rs746301361
CA243401965
314 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6773113
rs545842213
315 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA243401974
rs996330530
317 Y>H No ClinGen
Ensembl
rs1429113872
CA386469098
318 V>A No ClinGen
TOPMed
CA386469093
rs372405230
318 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773115
rs372405230
318 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1174715821
CA386469105
319 P>S No ClinGen
TOPMed
CA6773117
COSM1946166
rs189283811
320 V>I central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1300739181
CA386469134
321 P>R No ClinGen
gnomAD
rs1176157643
CA386469146
322 G>E No ClinGen
TOPMed
CA386469182
rs1239447082
325 N>H No ClinGen
TOPMed
CA6773119
rs750388902
325 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA243402023
rs985802557
327 N>S No ClinGen
TOPMed
gnomAD
rs963075043
CA243402024
329 Y>C No ClinGen
Ensembl
rs201273973
CA6773123
331 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6773121
rs766213742
331 N>S No ClinGen
ExAC
gnomAD
CA6773124
rs777972630
332 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs749429433
CA6773125
333 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1223408099
CA386469350
335 I>T No ClinGen
TOPMed
CA6773126
rs757435011
336 V>E No ClinGen
ExAC
gnomAD
CA243402041
rs779523944
337 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs917086257
CA243402046
338 I>T No ClinGen
Ensembl
rs1390044511
CA386469394
338 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 342 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305911149
CA386469498
344 V>E No ClinGen
gnomAD
CA6773131
rs138145479
344 V>M No ClinGen
ESP
ExAC
gnomAD
rs746611312
CA6773132
345 Q>H No ClinGen
ExAC
gnomAD
rs575445770 346 A>= Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] No NCI-TCGA
rs753447548
CA6773142
346 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA6773141
rs753447548
346 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1593462666
CA386469609
347 V>G No ClinGen
Ensembl
rs754146596
CA6773144
347 V>L No ClinGen
ExAC
gnomAD
TCGA novel 348 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 349 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386469630
rs1207644249
349 A>T No ClinGen
gnomAD
CA6773146
rs757340908
349 A>V No ClinGen
ExAC
gnomAD
TCGA novel 350 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386469686
rs1485413114
352 G>D No ClinGen
TOPMed
gnomAD
CA386469754
rs1424711229
356 E>G No ClinGen
gnomAD
CA386469828
rs1434187370
358 P>R No ClinGen
gnomAD
rs1370918967
CA386469869
COSM242767
360 L>F prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
CA6773149
rs199655635
361 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs200334384
CA243402351
361 P>S No ClinGen
1000Genomes
CA6773151
rs780259117
364 L>P No ClinGen
ExAC
gnomAD
CA386469953
rs780259117
364 L>Q No ClinGen
ExAC
gnomAD
rs769036400
CA6773153
365 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs747346637
CA6773152
365 C>G No ClinGen
ExAC
gnomAD
TCGA novel 366 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1251195640
CA386470074
370 A>S No ClinGen
TOPMed
rs770380543
CA6773177
374 P>T No ClinGen
ExAC
gnomAD
rs774280400
CA6773178
376 S>R No ClinGen
ExAC
gnomAD
CA386470634
rs1189642865
379 M>I No ClinGen
gnomAD
TCGA novel 380 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773180
rs149147459
380 W>R No ClinGen
ESP
TOPMed
gnomAD
CA6773185
rs561181524
387 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386470809
rs1346927261
388 S>P No ClinGen
gnomAD
CA386470834
rs1188879747
389 T>I No ClinGen
TOPMed
CA6773189
rs550167301
390 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377615413
CA6773191
COSM3739412
392 A>T liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1206962294
CA386470892
393 Q>R No ClinGen
TOPMed
rs376114199
CA6773193
394 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370777901
CA6773195
396 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201859471
CA6773196
396 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1272945595
CA386470955
397 V>A No ClinGen
gnomAD
CA386471048
rs1246950867
402 W>* No ClinGen
gnomAD
rs947797808
CA243403528
402 W>* No ClinGen
TOPMed
rs772184272
CA6773199
403 S>N No ClinGen
ExAC
gnomAD
rs775589806
CA6773200
404 G>* No ClinGen
ExAC
gnomAD
rs148317452 405 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6773202
rs771971405
406 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs746953280
CA6773219
409 V>A No ClinGen
ExAC
gnomAD
CA386472468
rs1157144715
409 V>M No ClinGen
TOPMed
rs1285141316
CA386472531
411 W>R No ClinGen
gnomAD
rs1458519738
CA386472610
412 T>R No ClinGen
TOPMed
CA386472645
rs1358903417
413 E>D No ClinGen
gnomAD
rs1412305833
CA386472650
414 D>N No ClinGen
TOPMed
rs1041691571
CA243404776
419 G>E No ClinGen
TOPMed
gnomAD
CA6773220
rs537194068
419 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA386472876
rs1209564809
420 K>R No ClinGen
gnomAD
CA6773222
rs749497970
421 R>I No ClinGen
ExAC
gnomAD
CA386472899
rs749497970
421 R>K No ClinGen
ExAC
gnomAD
rs146350192
CA243404784
421 R>S No ClinGen
ESP
CA386472959
rs1473972441
423 S>I No ClinGen
TOPMed
CA386473078
rs1188165889
426 E>D No ClinGen
TOPMed
CA243404794
rs930121684
426 E>Q No ClinGen
Ensembl
rs1241276662
CA386473119
429 Y>H No ClinGen
gnomAD
CA6773224
rs774582095
430 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs774582095
CA243404807
430 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA386473203
rs1173106019
432 G>D No ClinGen
gnomAD
rs751113525
CA6773228
434 V>L No ClinGen
ExAC
gnomAD
rs751113525
CA6773227
434 V>M No ClinGen
ExAC
gnomAD
CA6773229
rs764516576
435 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs184816447
CA6773230
436 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201786970
CA6773231
437 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs12826842
CA243404847
438 D>N No ClinGen
Ensembl
CA386473312
rs1365475858
439 E>A No ClinGen
gnomAD
rs1232845435
CA386473318
439 E>D No ClinGen
TOPMed
gnomAD
rs1346563177
CA386473327
440 G>A No ClinGen
gnomAD
rs764942932
CA6773232
440 G>S No ClinGen
ExAC
gnomAD
TCGA novel 443 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386473558
rs1593471913
447 I>T No ClinGen
Ensembl
rs1268989078
CA386473577
448 G>A No ClinGen
TOPMed
CA386473566
rs1338800693
448 G>S No ClinGen
TOPMed
CA386473620
rs1325577547
451 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA386473644
rs1265560616
452 M>I No ClinGen
gnomAD
CA6773258
rs780956007
452 M>T No ClinGen
ExAC
gnomAD
rs752688339
CA6773259
453 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA386473665
rs1162438692
454 K>E No ClinGen
gnomAD
CA6773260
rs755845802
455 A>V No ClinGen
ExAC
gnomAD
CA386473730
rs1471886738
456 S>Y No ClinGen
gnomAD
CA6773264
CA6773265
rs780343613
460 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773267
rs776945727
461 G>R No ClinGen
ExAC
gnomAD
CA6773269
rs762436207
462 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs770275246
CA6773270
464 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs146160862
CA6773272
465 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773271
rs146160862
465 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230117884
CA386473912
465 R>W No ClinGen
gnomAD
TCGA novel 466 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766083485
CA6773273
468 E>D No ClinGen
ExAC
gnomAD
CA6773274
rs751259499
469 S>C No ClinGen
ExAC
gnomAD
CA386474066
rs758908393
470 A>S No ClinGen
ExAC
gnomAD
CA6773275
rs758908393
470 A>T No ClinGen
ExAC
gnomAD
CA6773276
rs202035669
470 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs756114866
CA6773278
471 E>D No ClinGen
ExAC
gnomAD
CA243405121
rs1040911903
471 E>G No ClinGen
TOPMed
gnomAD
rs777515316
CA6773279
474 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1437383134
CA386474265
475 I>V No ClinGen
TOPMed
CA6773281
rs757072944
COSM1746723
477 F>L urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1475048593
CA386474348
477 F>S No ClinGen
gnomAD
CA386474363
rs1593472320
478 R>G No ClinGen
Ensembl
rs780070984
CA6773282
478 R>S No ClinGen
ExAC
gnomAD
CA386474416
rs747264955
479 Q>* No ClinGen
ExAC
gnomAD
CA6773283
rs747264955
479 Q>E No ClinGen
ExAC
gnomAD
rs1454356092
CA386474735
480 V>I No ClinGen
TOPMed
rs1374378198
CA386474764
481 Q>L No ClinGen
gnomAD
rs1034665502
CA243406989
482 S>G No ClinGen
Ensembl
CA386474785
rs1464475497
482 S>N No ClinGen
gnomAD
rs1162220161
CA386474808
483 E>K No ClinGen
TOPMed
CA6773296
rs760586285
484 I>T No ClinGen
ExAC
gnomAD
CA386474858
rs1379567547
485 P>S No ClinGen
gnomAD
CA6773297
rs763977187
487 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1275438984
CA386474927
488 P>L No ClinGen
gnomAD
CA6773299
rs756985067
488 P>S No ClinGen
ExAC
gnomAD
CA6773301
rs751726366
489 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs781109291
CA386476063
492 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs139024189
CA6773304
492 M>T No ClinGen
ESP
ExAC
gnomAD
CA6773303
rs781109291
492 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 493 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 493 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386476089
rs1245756599
493 K>R No ClinGen
gnomAD
TCGA novel 498 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773306
rs143885746
498 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA243407146
rs978164597
499 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs201408408
CA6773307
499 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386476190
rs1359678433
500 H>R No ClinGen
gnomAD
rs1318285669
CA386476289
506 L>F No ClinGen
gnomAD
TCGA novel 506 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773309
rs574173923
507 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386476334
rs1298675443
509 Q>* No ClinGen
gnomAD
CA243407165
rs771809689
CA6773311
509 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs745482115
CA6773310
509 Q>R No ClinGen
ExAC
gnomAD
rs1344891763
CA386476406
513 A>T No ClinGen
TOPMed
rs1266617876
CA386476426
514 V>E No ClinGen
gnomAD
CA386476422
rs1228379160
514 V>L No ClinGen
gnomAD
TCGA novel 516 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA243407188
rs199948166
518 G>D No ClinGen
Ensembl
rs754977294
CA6773315
519 R>C No ClinGen
ExAC
gnomAD
rs754977294
CA6773316
519 R>G No ClinGen
ExAC
gnomAD
CA386476497
rs1487182342
519 R>H No ClinGen
TOPMed
gnomAD
rs764908876
CA386476498
520 D>H No ClinGen
ExAC
gnomAD
rs764908876
CA6773318
520 D>N No ClinGen
ExAC
gnomAD
rs1593478913
CA386476509
521 C>Y No ClinGen
Ensembl
CA6773320
rs750279555
522 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs758149057
CA6773321
523 I>T No ClinGen
ExAC
gnomAD
rs756205551
CA6773324
525 R>Q No ClinGen
ExAC
gnomAD
CA6773322
rs767740857
525 R>W No ClinGen
ExAC
gnomAD
rs778057425
CA6773325
526 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386476535
rs1170701780
526 R>W No ClinGen
TOPMed
rs757826653
CA6773328
531 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs757826653
CA386476583
531 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs746197448
CA6773330
532 E>Q No ClinGen
ExAC
gnomAD
rs772324658
CA6773331
534 A>V No ClinGen
ExAC
gnomAD
rs779621331
COSM1639026
CA6773332
535 P>L stomach [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1593479109
CA386476693
538 I>L No ClinGen
Ensembl
CA243407289
rs147821902
539 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
CA6773336
rs776158563
540 P>L No ClinGen
ExAC
gnomAD
rs769720984
CA6773338
542 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs773052620
CA386476769
543 I>L No ClinGen
ExAC
gnomAD
rs773052620
CA6773339
543 I>V No ClinGen
ExAC
gnomAD
TCGA novel 544 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762744729
CA6773340
545 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386476835
rs766291285
547 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA6773341
rs766291285
547 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1409307195
CA386476858
548 E>Q No ClinGen
gnomAD
CA6773356
rs16940029
VAR_031255
552 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6773357
rs374758183
553 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376035720
CA6773358
553 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376035720
CA243407895
553 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1038693489
CA243407902
556 K>N No ClinGen
TOPMed
gnomAD
rs1362080629
CA386477151
557 T>S No ClinGen
TOPMed
gnomAD
CA6773360
rs556775153
558 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1475796328
CA386477210
560 Y>H No ClinGen
TOPMed
gnomAD
rs370344183
CA6773361
561 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386477271
rs1593481254
562 S>N No ClinGen
Ensembl
rs754041618
CA6773362
563 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs765287680
CA6773364
566 V>A No ClinGen
ExAC
gnomAD
CA386477404
rs1565893525
567 E>G No ClinGen
Ensembl
rs1593481322
CA386477413
568 Y>S No ClinGen
Ensembl
CA6773365
rs145285048
570 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA243407971
rs188194445
572 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6773366
rs188194445
572 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780374696
CA6773367
572 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 574 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386477715
rs1219811843
576 F>C No ClinGen
gnomAD
CA386477745
rs1232696084
578 F>L No ClinGen
gnomAD
CA386477771
rs1267228825
CA386477768
578 F>L No ClinGen
TOPMed
gnomAD
rs140894897
CA6773370
584 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1250169428
CA386477902
COSM1244059
584 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1250169428
CA386477904
584 R>L No ClinGen
TOPMed
gnomAD
rs1198270225
CA386477967
587 V>G No ClinGen
gnomAD
rs191387263
CA243408018
588 E>V No ClinGen
1000Genomes
CA386478045
rs1376050338
590 P>L No ClinGen
gnomAD
rs1479286702
CA386478053
591 C>S No ClinGen
gnomAD
rs755638623
CA6773372
592 T>I No ClinGen
ExAC
gnomAD
CA6773374
rs749219076
594 M>I No ClinGen
ExAC
gnomAD
CA6773375
rs771044060
596 A>G No ClinGen
ExAC
gnomAD
CA386478206
rs11065772
597 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200954726
CA386478213
598 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs200954726
CA6773377
COSM934714
598 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1321011420
CA386478228
599 N>S No ClinGen
gnomAD
rs776895831
CA6773379
601 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6773380
rs776895831
601 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375366307
CA6773383
603 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1181496
CA6773382
rs375366307
603 A>T lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386478277
rs1270188084
603 A>V No ClinGen
gnomAD
rs766830119
CA6773384
604 Q>H No ClinGen
ExAC
gnomAD
rs1351654628
CA386478280
604 Q>K No ClinGen
gnomAD
rs1490132544
CA386478287
604 Q>R No ClinGen
TOPMed
rs1251763163
CA386478304
606 Q>* No ClinGen
gnomAD
rs748376417
CA6773398
608 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6773399
rs540118947
610 G>D No ClinGen
1000Genomes
ExAC
CA386478812
rs1188331811
610 G>R No ClinGen
TOPMed
rs567060031
CA6773402
611 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762951275
CA6773401
611 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA386478827
rs1401173668
612 P>A No ClinGen
gnomAD
TCGA novel 612 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386478846
rs1394100325
614 H>Y No ClinGen
gnomAD
rs1389218832
CA386478857
615 R>Q No ClinGen
gnomAD
CA6773403
COSM77199
rs145713657
615 R>W ovary large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1247062162
CA386478870
617 K>E No ClinGen
gnomAD
CA243412726
rs978350193
619 I>T No ClinGen
Ensembl
CA386478901
rs1207186713
620 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs753053412
CA6773406
620 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs140603461
CA6773407
624 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202162559
CA386478945
625 E>K No ClinGen
1000Genomes
ExAC
TOPMed
CA6773410
rs202162559
625 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
rs989626934
CA243412757
625 E>V No ClinGen
Ensembl
CA386478959
rs1238219120
626 S>P No ClinGen
gnomAD
rs1444863810
CA386478980
628 W>* No ClinGen
gnomAD
rs1444863810
CA386478983
628 W>L No ClinGen
gnomAD
CA386478978
rs1308853674
628 W>R No ClinGen
gnomAD
rs1363004243
CA386478992
629 G>R No ClinGen
TOPMed
CA386478998
rs1187581386
630 V>M No ClinGen
TOPMed
gnomAD
rs1450816537
CA386479040
634 S>Y No ClinGen
gnomAD
CA386479060
rs1393480967
636 E>Q No ClinGen
TOPMed
rs1593495402
CA386479071
637 T>P No ClinGen
Ensembl
rs778629713
CA6773413
638 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6773414
rs750352442
640 N>I No ClinGen
ExAC
gnomAD
CA386479103
rs750352442
640 N>T No ClinGen
ExAC
gnomAD
CA386479129
rs1403882575
643 L>F No ClinGen
TOPMed
CA6773416
rs111403940
COSM1358578
644 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6773418
rs142989070
645 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386479153
rs142989070
645 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773419
rs202062595
645 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs372168822
CA386479164
646 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773421
rs372168822
646 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372168822
CA6773420
646 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386479173
rs1239449209
647 H>L No ClinGen
TOPMed
gnomAD
rs773903038
CA386479175
647 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386479172
rs1239449209
647 H>R No ClinGen
TOPMed
gnomAD
CA386479182
rs1265349355
648 V>D No ClinGen
gnomAD
rs376760625
CA6773424
648 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776099794
CA6773425
649 I>V No ClinGen
ExAC
gnomAD
rs2300455
CA386479207
651 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6773427
VAR_031256
rs2300455
651 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753532997
CA6773428
652 R>G No ClinGen
ExAC
CA386479219
rs1486523139
652 R>K No ClinGen
gnomAD
CA243412898
rs894138200
658 P>A No ClinGen
TOPMed
CA6773432
COSM278568
rs757955756
660 E>K lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243418402
rs907874044
664 P>L No ClinGen
TOPMed
rs747449313
CA6773460
667 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1288744010
CA386479960
668 T>I No ClinGen
gnomAD
CA6773462
rs777305943
669 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs772984491
CA6773465
675 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs202216589
CA6773464
675 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373217436
CA6773466
677 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765777312
CA6773467
677 S>R No ClinGen
ExAC
gnomAD
CA6773472
rs755847339
680 V>A No ClinGen
ExAC
gnomAD
rs201520813
CA6773471
680 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201520813
CA6773470
680 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386480269
rs1262624309
686 V>L No ClinGen
TOPMed
CA386480285
rs1283180486
687 A>D No ClinGen
gnomAD
CA386480301
rs1315104452
688 A>G No ClinGen
TOPMed
gnomAD
TCGA novel 688 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386480296
rs1247806490
688 A>T No ClinGen
gnomAD
rs747068694
CA6773478
690 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1209175525
CA386480350
692 L>Q No ClinGen
gnomAD
rs748721206
CA386480380
694 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA6773481
rs748721206
694 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6773482
rs770277458
695 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA386480404
rs1423483752
695 F>Y No ClinGen
TOPMed
rs1165405300
CA386480416
696 A>T No ClinGen
TOPMed
CA6773483
rs773666938
COSM351951
696 A>V lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1422290007
CA386480464
698 S>F No ClinGen
TOPMed
gnomAD
CA6773486
rs773907696
701 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs771586214
CA6773488
708 E>Q No ClinGen
ExAC
gnomAD
rs1225546821
CA386480587
710 R>L No ClinGen
TOPMed
gnomAD
rs1225546821
CA386480584
710 R>Q No ClinGen
TOPMed
gnomAD
CA6773489
rs201035398
710 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773490
rs760676161
712 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1339974206
CA386480614
713 A>T No ClinGen
gnomAD
CA386480633
rs1484045330
714 I>N No ClinGen
gnomAD
CA386480626
rs1593502488
714 I>V No ClinGen
Ensembl
rs753617014
COSM1181494
CA6773492
715 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386481527
rs1464071620
717 M>I No ClinGen
gnomAD
CA386481532
rs1333818588
718 V>A No ClinGen
gnomAD
CA386481530
rs1287459385
718 V>L No ClinGen
gnomAD
rs778605951
CA243421077
720 A>G No ClinGen
TOPMed
gnomAD
CA386481544
rs1281526262
720 A>P No ClinGen
TOPMed
gnomAD
rs1281526262
CA386481547
720 A>T No ClinGen
TOPMed
gnomAD
rs1565904663
CA386481613
724 L>P No ClinGen
Ensembl
rs1410441808
CA386481630
725 S>F No ClinGen
TOPMed
rs1018207163
CA243421112
COSM1181487
727 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA6773535
rs562094257
727 R>Q No ClinGen
ExAC
gnomAD
rs761608576
CA386481726
731 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs761608576
CA6773538
731 R>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773539
rs764997444
731 R>S No ClinGen
ExAC
gnomAD
CA386481744
rs1364034009
732 T>I No ClinGen
gnomAD
rs1565904738
CA386481755
733 T>S No ClinGen
Ensembl
CA6773542
rs145001704
734 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773541
rs145001704
734 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA607601123
rs1425202455
736 Y>* No ClinGen
gnomAD
rs1483652086
CA386481831
738 I>F No ClinGen
TOPMed
rs1307369571
CA386481860
740 L>F No ClinGen
TOPMed
gnomAD
rs1307369571
CA386481858
740 L>V No ClinGen
TOPMed
gnomAD
CA386481897
rs1338339371
742 E>D No ClinGen
gnomAD
rs1394021305
CA386481903
743 T>S No ClinGen
gnomAD
rs967160470
CA243421181
744 E>K No ClinGen
TOPMed
gnomAD
rs1331067133
CA386481928
745 S>N No ClinGen
gnomAD
rs756295416
CA6773544
747 Q>H No ClinGen
ExAC
gnomAD
CA386481964
rs1361743300
750 D>N No ClinGen
TOPMed
gnomAD
rs1251272751
COSM1628361
CA386481973
751 I>V liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs757630628
CA6773547
752 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745491556
CA386481993
CA6773549
754 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 754 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386482005
rs1386512707
755 W>C No ClinGen
gnomAD
CA386482010
rs1565904901
756 L>W No ClinGen
Ensembl
rs1444752611
CA386482014
757 D>Y No ClinGen
gnomAD
CA243421279
rs1012906544
762 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA6773551
rs779707974
763 K>E No ClinGen
ExAC
gnomAD
rs1371276453
CA386482062
764 V>M No ClinGen
gnomAD
CA243421288
rs1025233099
765 Q>H No ClinGen
Ensembl
CA386482072
rs1463512497
765 Q>R No ClinGen
gnomAD
CA6773570
rs754505331
766 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6773572
rs372425748
769 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773574
rs372425748
769 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773573
rs372425748
769 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1021514420
CA243421440
770 D>G No ClinGen
TOPMed
gnomAD
CA6773576
rs542111056
770 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs760875080
CA6773578
772 M>T No ClinGen
ExAC
gnomAD
CA6773577
rs775845125
772 M>V No ClinGen
ExAC
gnomAD
rs761980605
CA6773581
774 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs761980605
CA386482137
774 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs199632157
CA6773580
774 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1294083236
CA386482141
775 V>L No ClinGen
gnomAD
rs1369095847
CA386482148
776 V>A No ClinGen
gnomAD
rs770255172
CA6773582
776 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 777 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773584
rs375473600
778 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs766795247
CA6773585
778 G>V No ClinGen
ExAC
gnomAD
CA386482164
rs1365496868
779 A>D No ClinGen
gnomAD
CA6773586
rs751179466
779 A>S No ClinGen
ExAC
gnomAD
CA386482180
rs776023628
781 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA6773588
rs142240913
782 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs539307430
CA243421487
COSM3398314
783 A>T central_nervous_system [Cosmic] No ClinGen
cosmic curated
Ensembl
rs757403439
CA243421498
784 D>G No ClinGen
TOPMed
gnomAD
rs368443757
CA6773592
784 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368443757
CA6773591
784 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200732483
CA243421511
785 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA6773593
rs770847703
785 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs200732483
CA6773594
785 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243421514
rs371618576
786 M>V No ClinGen
TOPMed
CA243421517
rs941660768
789 T>A No ClinGen
TOPMed
CA243421519
rs749816455
789 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773596
rs749816455
789 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1176768494
CA386482228
790 C>S No ClinGen
gnomAD
CA386482233
rs1406084359
790 C>W No ClinGen
TOPMed
gnomAD
rs769916189
CA6773599
793 D>N No ClinGen
ExAC
gnomAD
rs1322885982
CA386482258
794 F>L No ClinGen
TOPMed
rs763489136
CA6773601
796 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1489474249
CA386482330
798 L>Q No ClinGen
gnomAD
rs1305507948
CA386482342
799 E>* No ClinGen
gnomAD
rs1366539512
CA386482345
799 E>V No ClinGen
gnomAD
rs1024779023
CA243422790
803 V>I No ClinGen
TOPMed
gnomAD
rs759763354
CA6773622
805 P>L No ClinGen
ExAC
gnomAD
TCGA novel 805 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773626
rs763677490
810 L>P No ClinGen
ExAC
gnomAD
rs145681259
CA243422866
813 V>A No ClinGen
ESP
gnomAD
CA6773627
rs367805487
813 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773628
rs371701828
814 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185482040
CA386482645
814 D>G No ClinGen
gnomAD
TCGA novel 814 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778653268
CA6773629
815 V>M No ClinGen
ExAC
gnomAD
rs1185309598
CA386482654
816 E>* No ClinGen
gnomAD
rs779935990
CA6773632
820 G>E No ClinGen
ExAC
gnomAD
COSM934724
CA6773631
rs550603462
820 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748293791
CA6773633
821 G>D No ClinGen
ExAC
gnomAD
CA386482694
rs748293791
821 G>V No ClinGen
ExAC
gnomAD
rs762516264
CA243422887
822 V>F No ClinGen
Ensembl
CA386482715
rs1172072857
823 K>R No ClinGen
TOPMed
CA386482741
rs1470792649
825 I>V No ClinGen
gnomAD
CA386482762
rs1334217412
827 K>E No ClinGen
gnomAD
rs747315043
CA6773663
828 V>L No ClinGen
ExAC
gnomAD
CA386483470
rs1180739442
829 A>S No ClinGen
TOPMed
gnomAD
rs1236640081
CA386483480
829 A>V No ClinGen
gnomAD
rs769197510
CA6773664
830 R>Q No ClinGen
ExAC
gnomAD
rs1291454767
CA386483484
830 R>W No ClinGen
TOPMed
rs1163625872
CA386483504
831 Q>R No ClinGen
TOPMed
gnomAD
rs1174190986
CA386483524
832 S>F No ClinGen
TOPMed
rs1435081011
CA386483541
834 T>A No ClinGen
TOPMed
rs776415103
CA6773665
834 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs17848802
CA6773666
835 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6773668
rs772727257
837 V>I No ClinGen
ExAC
gnomAD
CA386483659
rs1490950801
840 M>T No ClinGen
gnomAD
rs1593529067
CA386483692
842 G>A No ClinGen
Ensembl
CA6773671
rs771700854
843 C>R No ClinGen
ExAC
gnomAD
rs754754767
CA6773672
843 C>Y No ClinGen
ExAC
gnomAD
CA6773673
rs767367796
845 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs570024928
CA243426358
845 I>V No ClinGen
1000Genomes
gnomAD
rs371416586
CA6773675
846 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1367133950
CA386483724
847 I>N No ClinGen
TOPMed
gnomAD
rs1367133950
CA386483725
847 I>T No ClinGen
TOPMed
gnomAD
rs779029093
CA6773676
849 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA386483736
rs779029093
849 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1328002586
CA386483744
850 H>P No ClinGen
gnomAD
CA243426381
rs367885804
851 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773679
rs780689830
851 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773678
rs367885804
851 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386483784
rs1593529253
857 L>I No ClinGen
Ensembl
rs1210793795
CA386483796
859 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386483811
rs1183598692
861 Y>C No ClinGen
gnomAD
CA386483807
rs1435684013
861 Y>H No ClinGen
TOPMed
gnomAD
rs1435684013
CA386483809
861 Y>N No ClinGen
TOPMed
gnomAD
rs748481689
CA6773684
862 N>S No ClinGen
ExAC
gnomAD
CA386483837
rs1441879635
865 S>G No ClinGen
gnomAD
CA386483851
rs1304331497
866 Y>* No ClinGen
TOPMed
rs1458408808
CA386483865
869 Y>H No ClinGen
gnomAD
CA386483876
rs1381853025
870 M>T No ClinGen
gnomAD
rs772744233
CA6773686
875 D>E No ClinGen
ExAC
gnomAD
CA386483921
rs1158195178
876 S>N No ClinGen
TOPMed
rs778064707
CA6773722
878 R>* No ClinGen
ExAC
gnomAD
rs755846803
COSM934725
CA243428669
878 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1009799722
CA243428683
882 G>S No ClinGen
TOPMed
gnomAD
CA386484338
rs745338655
883 N>D No ClinGen
ExAC
gnomAD
CA6773726
rs745338655
883 N>H No ClinGen
ExAC
gnomAD
CA6773727
rs201708270
883 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775472026
CA6773729
885 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773733
rs761707822
886 C>R No ClinGen
ExAC
gnomAD
rs766670302
CA6773734
889 E>K No ClinGen
ExAC
gnomAD
CA386484444
rs1217315017
889 E>V No ClinGen
gnomAD
TCGA novel 890 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1345000403
CA386484458
890 K>Q No ClinGen
TOPMed
TCGA novel 893 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759667024
CA6773736
893 D>N No ClinGen
ExAC
gnomAD
CA6773737
rs138636393
895 T>I No ClinGen
ESP
ExAC
gnomAD
TCGA novel 896 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773740
rs764674504
899 S>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 901 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA243428772
rs375290298
901 S>L No ClinGen
ESP
TOPMed
gnomAD
rs1295989616
CA386484650
902 A>G No ClinGen
TOPMed
CA386484653
rs1403511025
903 G>R No ClinGen
gnomAD
rs745564909
CA6773744
906 T>I No ClinGen
ExAC
gnomAD
CA6773745
rs757903127
907 Q>R No ClinGen
ExAC
gnomAD
CA243428837
rs910765182
909 T>A No ClinGen
Ensembl
CA386484727
rs1304206625
909 T>I No ClinGen
gnomAD
rs779492116
CA6773746
911 E>Q No ClinGen
ExAC
gnomAD
CA6773747
rs746545179
913 G>R No ClinGen
ExAC
gnomAD
rs747905047
CA386484790
915 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386484806
rs1565913509
916 V>A No ClinGen
Ensembl
CA386484797
rs1247107221
916 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386484816
rs1488915679
917 E>K No ClinGen
gnomAD
CA6773751
rs769761227
918 A>S No ClinGen
ExAC
gnomAD
rs966180894
CA243428873
918 A>V No ClinGen
Ensembl
rs1159716906
CA386484861
921 S>N No ClinGen
TOPMed
gnomAD
rs1159716906
CA386484862
921 S>T No ClinGen
TOPMed
gnomAD
rs1250054732
CA386484873
923 A>T No ClinGen
TOPMed
rs1404168033
CA386484893
925 M>I No ClinGen
gnomAD
CA386484888
rs1357834405
925 M>V No ClinGen
Ensembl
rs373683126
CA6773754
926 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 929 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773780
rs763408635
930 M>V No ClinGen
ExAC
gnomAD
CA386485263
rs1262536501
932 M>V No ClinGen
TOPMed
gnomAD
CA6773781
rs370837345
933 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751276030
CA6773782
934 L>V No ClinGen
ExAC
gnomAD
CA6773783
rs754415842
935 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA6773785
rs752667004
936 V>I No ClinGen
ExAC
gnomAD
CA6773786
rs375016692
937 Q>* No ClinGen
ESP
ExAC
gnomAD
CA386485369
rs1477914359
938 E>G No ClinGen
gnomAD
CA386485360
rs1426293977
938 E>K No ClinGen
gnomAD
CA6773787
rs777855927
939 R>I No ClinGen
ExAC
gnomAD
rs144385811
CA6773789
CA6773788
939 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3398315
CA6773791
rs747291562
941 R>Q central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6773790
rs780115048
941 R>W Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776638245
CA6773793
946 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA6773794
rs373882930
947 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773796
rs181685208
947 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs181685208
CA6773795
947 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA243430376
rs373882930
947 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773797
rs376816430
949 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1593541717
CA386485539
949 G>V No ClinGen
Ensembl
rs1342890033
CA386485557
951 V>L No ClinGen
gnomAD
CA386485583
rs1279471517
953 E>K No ClinGen
gnomAD
CA386486172
rs1371962054
954 A>S No ClinGen
gnomAD
rs767290540
CA6773802
954 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs147358100
CA6773805
957 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6773804
rs147358100
957 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001812397
rs139511102
CA6773806
958 V>M No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA243430430
rs1050222575
960 R>G No ClinGen
TOPMed
gnomAD
rs143533866
CA6773807
960 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140972865
CA6773809
963 L>I No ClinGen
1000Genomes
ExAC
CA6773812
rs748180603
964 D>E No ClinGen
ExAC
gnomAD
RCV000994971
rs150559547
CA6773811
964 D>N No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374059185
CA6773813
965 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386486316
rs1329530168
965 D>G No ClinGen
gnomAD
CA243430460
rs1051038480
968 K>N No ClinGen
Ensembl
CA386486340
rs1350083088
969 V>F No ClinGen
gnomAD
rs749872855
CA6773815
969 V>G No ClinGen
ExAC
gnomAD
rs201086081
CA6773816
970 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6773818
rs759824633
971 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs759824633
CA6773819
971 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6773817
COSM1706242
rs774719378
971 P>S skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1413183436 972 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386460508
rs1369912084
972 A>G No ClinGen
gnomAD
CA386460504
rs544990923
972 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6773838
rs544990923
972 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1369912084
CA386460509
972 A>V No ClinGen
gnomAD
CA6773839
rs768264013
974 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM394946
rs768264013
CA386460530
974 P>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1030324410
CA243389294
976 T>I No ClinGen
Ensembl
CA386460590
rs1473163729
980 P>S No ClinGen
TOPMed
rs765175424
CA6773843
COSM1510758
982 Q>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA6773844
rs750379973
983 Q>* No ClinGen
ExAC
gnomAD
rs949345193
CA243389332
985 L>P No ClinGen
TOPMed
rs536491553
CA243389334
986 P>S No ClinGen
TOPMed
rs536491553
CA386460649
986 P>T No ClinGen
TOPMed
rs752903306
CA6773847
987 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 989 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770852910
CA6773848
989 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6773849
rs144642580
990 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243389348
rs776789021
992 L>P No ClinGen
Ensembl
CA386460734
rs1333998714
994 Q>H No ClinGen
TOPMed
rs753913766
CA6773850
995 V>A No ClinGen
ExAC
gnomAD
rs572071754
CA6773852
999 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA243389360
rs201793928
1002 N>K No ClinGen
TOPMed
gnomAD
rs1442998693
CA386460824
1003 L>F No ClinGen
gnomAD
rs772558737
CA6773854
1004 T>I No ClinGen
ExAC
gnomAD
rs938035930
CA243389389
1005 N>S No ClinGen
TOPMed
gnomAD
COSM1639027
CA6773857
rs768386735
1006 V>I Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM546188
CA6773860
rs769231625
1007 M>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 1007 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761367358
CA6773859
1007 M>V No ClinGen
ExAC
gnomAD
TCGA novel 1008 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773198261
CA6773861
1008 S>R No ClinGen
ExAC
gnomAD
rs1425900342
CA386460895
1010 F>L No ClinGen
TOPMed
CA243389449
rs888561348
1011 C>R No ClinGen
TOPMed
CA6773862
rs762938664
1011 C>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1013 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6773865
rs759357613
1016 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1278455426
CA386460983
1018 S>N No ClinGen
gnomAD
rs1381309570
CA386461000
1019 I>M No ClinGen
gnomAD
rs764328291
CA6773866
1020 K>T No ClinGen
ExAC
gnomAD
CA386461731
rs1177813039
1024 W>C No ClinGen
TOPMed
rs1378984891
CA386461727
1024 W>S No ClinGen
gnomAD
CA386461798
rs1483232601
1028 L>V No ClinGen
TOPMed
CA386461828
rs1319706956
1029 M>I No ClinGen
gnomAD
CA386461811
rs1288823399
1029 M>V No ClinGen
gnomAD
CA386461845
rs1219572920
1030 M>I No ClinGen
gnomAD
CA386461863
rs1241814191
1031 T>I No ClinGen
TOPMed
rs1593566807
CA386461858
1031 T>P No ClinGen
Ensembl
CA386461877
rs1593566844
1032 L>P No ClinGen
Ensembl
COSM1165898
rs761995492
CA6773888
1033 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM3772242
CA6773887
rs776904109
1033 R>W Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1593566913
CA386461902
1034 H>P No ClinGen
Ensembl
rs1198051357
CA386461909
1034 H>Q No ClinGen
gnomAD
rs750458750
CA6773890
1035 P>L No ClinGen
ExAC
gnomAD
CA6773889
rs765506891
1035 P>S No ClinGen
ExAC
gnomAD
rs752155886
CA6773893
1038 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1453204864
CA386462028
1042 L>P No ClinGen
TOPMed
TCGA novel 1042 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA243391397
rs893134672
1043 Q>* No ClinGen
TOPMed
rs893134672
CA243391383
1043 Q>K No ClinGen
TOPMed
CA386462041
rs1464816657
1043 Q>R No ClinGen
gnomAD
CA386462077
rs1383997643
1044 E>D No ClinGen
TOPMed
CA386462060
rs1423303041
1044 E>K No ClinGen
TOPMed
CA386462122
rs1392365429
1047 T>A No ClinGen
gnomAD
rs755368659
CA6773894
1047 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA386462130
rs1447338267
1048 S>G No ClinGen
gnomAD
CA243391410
rs781468323
1048 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1447338267
CA386462129
1048 S>R No ClinGen
gnomAD
rs553109112
CA6773896
1049 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs553109112
COSM1244061
CA386462136
1049 V>M oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA6773897
rs376848216
1050 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1229815938
CA386462142
1050 A>P No ClinGen
TOPMed
gnomAD
rs1335695943
CA386462149
1051 G>D No ClinGen
gnomAD
CA6773898
rs777435824
1052 R>C Variant assessed as Somatic; 4.73e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773899
rs748746665
1054 P>A No ClinGen
ExAC
gnomAD
CA243391457
rs61934316
1055 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA6773901
rs373113364
1055 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6773902
rs61934316
1055 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1482603356
CA386462198
1056 P>H No ClinGen
gnomAD
CA386462227
rs1593567438
1058 E>G No ClinGen
Ensembl
CA386462250
rs1246655754
1060 S>T No ClinGen
TOPMed
rs1183932981
CA386462263
1061 V>D No ClinGen
gnomAD
rs372040414
CA6773903
1062 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773904
rs775085787
1062 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs775085787
CA6773905
1062 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA386462271
rs1410025561
1063 R>K No ClinGen
gnomAD
TCGA novel 1063 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386462281
rs1593567571
1064 V>G No ClinGen
Ensembl
TCGA novel 1065 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1066 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1067 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773620750
CA6773907
1068 Y>F No ClinGen
ExAC
gnomAD
rs763097067
CA6773908
1070 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs141278003
CA6773909
1072 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1593567645
CA386462339
1073 T>P No ClinGen
Ensembl
rs376684937
CA386462348
1074 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6773911
rs376684937
1074 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768076267
CA6773912
1075 V>M No ClinGen
ExAC
gnomAD
TCGA novel 1077 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386462363
rs1457534140
1077 C>Y No ClinGen
TOPMed
TCGA novel 1078 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752965758
CA6773913
1080 P>R No ClinGen
ExAC
gnomAD
rs954256087
CA243391569
1081 S>R No ClinGen
TOPMed
gnomAD
CA6773914
rs756522714
1083 Q>* No ClinGen
ExAC
gnomAD
rs376285991
CA6773915
1083 Q>H No ClinGen
ESP
ExAC
gnomAD
CA386462877
rs1190675259
1085 A>V No ClinGen
TOPMed
gnomAD
CA386462879
rs1420652647
1086 T>A No ClinGen
TOPMed
CA386462907
rs1182887923
1090 C>Y No ClinGen
TOPMed
rs151299707
CA6773934
1091 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386462983
rs369101174
1097 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6773936
rs369101174
1097 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6773935
rs778538004
1097 R>W No ClinGen
ExAC
gnomAD
rs757945449
CA6773937
1101 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA243395693
rs905355339
1101 R>L No ClinGen
TOPMed
rs779827964
CA6773938
1102 E>V No ClinGen
ExAC
gnomAD
rs747037918
CA6773939
COSM158837
1103 V>I NS [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6773941
rs768562087
1105 F>L No ClinGen
ExAC
gnomAD
CA6773940
rs768562087
1105 F>V No ClinGen
ExAC
gnomAD
CA386463099
rs1311860104
1106 I>M No ClinGen
gnomAD
rs747961113
CA6773942
1106 I>V No ClinGen
ExAC
gnomAD
rs1351851277
CA386463111
1107 N>S No ClinGen
gnomAD
rs771240116
CA6773943
1108 T>I No ClinGen
ExAC
gnomAD
CA386463118
rs1381258524
1108 T>P No ClinGen
TOPMed
rs759510702
CA6773945
1109 Q>K No ClinGen
ExAC
gnomAD
rs772231098
CA6773946
1110 S>N No ClinGen
ExAC
gnomAD
rs373495005
CA6773948
1112 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754130864
CA6773950
1113 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs764594952
CA6773949
1113 Q>P No ClinGen
ExAC
gnomAD
rs762193492
CA6773951
1114 L>S No ClinGen
ExAC
gnomAD
COSM691354
CA386463217
rs1384434815
1116 Q>* lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs764817905
CA6773952
1117 R>G No ClinGen
ExAC
gnomAD
rs150478780
CA6773965
1119 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773966
rs376968963
1119 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765703397
CA6773969
1121 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6773970
rs138522645
1122 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6773971
rs762611929
1123 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs765956673
CA6773972
1123 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386463963
rs1255975590
1124 G>D No ClinGen
TOPMed
gnomAD
COSM287177
CA6773974
rs567554237
1124 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1565935782
CA386463976
1125 Y>C No ClinGen
Ensembl
rs767542059
CA6773975
COSM3792155
1126 M>V urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 1130 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386464014
rs1368571140
1130 V>M No ClinGen
TOPMed
CA243398378
rs867570382
1136 R>G No ClinGen
Ensembl
rs1228931233
CA386464060
1137 Y>H No ClinGen
gnomAD
rs777681543
CA6773979
1139 R>C No ClinGen
ExAC
gnomAD
rs758575862
CA6773982
1139 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6773981
rs758575862
1139 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6773980
rs777681543
1139 R>S No ClinGen
ExAC
gnomAD
CA386464086
rs1198693226
1141 E>G No ClinGen
gnomAD
rs1192740349
CA386464126
1146 Q>L No ClinGen
gnomAD
CA386464130
rs1565935939
1147 A>T No ClinGen
Ensembl
rs1344122684
CA386464154
1148 H>Q No ClinGen
TOPMed
rs1434765559
CA386464151
1148 H>R No ClinGen
TOPMed
rs771242906
CA6774012
CA6774010
1149 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA386464155
rs1565936150
1149 Y>D No ClinGen
Ensembl
rs146920013
COSM1322022
CA6774013
1150 D>N ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146920013
CA386464162
1150 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200543599
CA386464175
1151 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1565936208
CA386464177
1152 C>R No ClinGen
Ensembl
CA243398565
rs994372838
1153 V>M No ClinGen
gnomAD
rs760130044
CA6774015
1154 I>L No ClinGen
ExAC
gnomAD
CA6774016
rs200668190
1154 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774017
rs753766230
1159 Q>E No ClinGen
ExAC
gnomAD
rs1261520626
CA386464227
1159 Q>P No ClinGen
gnomAD
CA386464242
rs1211864636
1161 K>T No ClinGen
gnomAD
CA243398597
rs149482651
1162 P>S No ClinGen
ESP
TOPMed
gnomAD
CA6774018
rs761635431
1163 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA386464260
rs1213696969
1164 M>L No ClinGen
TOPMed
rs1483598910
CA386464262
1164 M>T No ClinGen
TOPMed
CA6774019
rs765078219
1166 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs750235294
CA6774020
1167 V>L No ClinGen
ExAC
gnomAD
CA6774022
rs781428706
1169 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA6774023
rs752773911
1170 C>Y No ClinGen
ExAC
gnomAD
rs756198206
CA6774024
1172 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA243398608
rs1005596879
1173 S>A No ClinGen
gnomAD
rs1023312890
CA243398613
1173 S>F No ClinGen
Ensembl
TCGA novel 1175 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs969688290
CA243398618
1175 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1295008109
CA386464333
1175 A>V No ClinGen
TOPMed
CA6774025
rs184066600
1177 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA243398620
rs184066600
1177 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386464354
rs1375521964
1179 K>E No ClinGen
gnomAD
CA386464357
rs1224128465
1179 K>R No ClinGen
TOPMed
gnomAD
CA6774027
rs372095862
1180 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774026
rs372095862
1180 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774029
rs539224114
1186 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs866468688
CA243398628
1186 M>K No ClinGen
TOPMed
rs866468688
CA386464403
1186 M>T No ClinGen
TOPMed
CA6774028
rs779361484
1186 M>V No ClinGen
ExAC
gnomAD
rs771810361
CA6774030
1187 L>M No ClinGen
ExAC
gnomAD
rs775299699
CA6774031
1188 I>L No ClinGen
ExAC
gnomAD
CA386464418
rs1198153672
1188 I>M No ClinGen
TOPMed
gnomAD
CA386465327
rs1309731039
1190 E>K No ClinGen
gnomAD
CA6774048
rs746182542
1191 L>P No ClinGen
ExAC
gnomAD
CA386465340
rs375330223
1192 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774050
rs375330223
1192 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA243401919
rs746703562
1194 P>A No ClinGen
ExAC
gnomAD
CA243401942
rs776001518
1194 P>R No ClinGen
Ensembl
rs746703562
CA6774052
1194 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1593619573
CA386465358
1195 D>A No ClinGen
Ensembl
rs768370789
CA6774053
1195 D>N No ClinGen
ExAC
CA386465369
rs1184239234
1197 S>P No ClinGen
gnomAD
rs1300418762
CA386465375
1198 L>P No ClinGen
TOPMed
rs368193601
CA6774054
1198 L>V No ClinGen
ExAC
gnomAD
rs763388361
CA6774055
1199 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA386465385
rs1358635617
1200 D>Y No ClinGen
TOPMed
rs146250483
CA6774058
1201 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369575164
CA6774059
1203 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386465411
rs1356312009
1204 S>A No ClinGen
TOPMed
gnomAD
rs1356312009
CA386465409
1204 S>T No ClinGen
TOPMed
gnomAD
CA6774060
rs775770446
1206 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1206 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775770446
CA386465422
1206 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs760748409
CA6774061
1207 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1208 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757434963
CA6774064
1208 E>D No ClinGen
ExAC
gnomAD
rs774642233
CA6774063
1208 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6774066
rs144155916
1210 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386465448
rs1213433006
1210 T>S No ClinGen
TOPMed
gnomAD
rs758828359
CA6774067
1211 Q>L No ClinGen
ExAC
gnomAD
rs758828359
CA386465455
1211 Q>R No ClinGen
ExAC
gnomAD
CA386465482
rs1213215559
1215 S>N No ClinGen
gnomAD
CA6774070
rs754548594
1216 E>G No ClinGen
ExAC
gnomAD
rs193086924
CA6774069
1216 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1224691339
CA386465505
1218 C>S No ClinGen
gnomAD
CA6774073
rs769337328
1220 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA243402062
rs866344256
1221 A>V No ClinGen
Ensembl
rs773133189
CA6774074
1222 L>F No ClinGen
ExAC
gnomAD
CA6774076
rs371796559
1223 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373323478
CA6774077
1223 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1347235133
CA386465540
1224 A>G No ClinGen
gnomAD
rs1347235133
CA386465541
1224 A>V No ClinGen
gnomAD
CA386465544
rs762060491
1225 R>P No ClinGen
TOPMed
gnomAD
rs762060491
CA243402071
1225 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6774078
rs759403747
1225 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386465629
rs1396378667
1228 L>M No ClinGen
TOPMed
gnomAD
rs1390189451
CA386465654
1229 I>M No ClinGen
gnomAD
rs759818869
CA6774106
1231 S>P No ClinGen
ExAC
gnomAD
CA386465694
rs1593621126
1232 H>P No ClinGen
Ensembl
CA386465689
rs1336728209
1232 H>Y No ClinGen
gnomAD
CA386465721
rs1336580479
1234 P>L No ClinGen
gnomAD
rs755699505
CA6774109
1235 S>A No ClinGen
ExAC
gnomAD
rs777432178
CA6774110
1236 Y>C No ClinGen
ExAC
CA6774112
rs778737669
1237 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA243402302
rs965439360
1239 R>Q No ClinGen
TOPMed
gnomAD
rs367785362
CA6774113
1239 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6774114
rs371205831
1240 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771749905
CA6774115
1243 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs943818474
CA243402321
1244 E>K No ClinGen
TOPMed
gnomAD
CA386465857
rs1399524267
1244 E>V No ClinGen
TOPMed
CA386465867
rs1372608762
1245 S>A No ClinGen
gnomAD
CA6774117
rs746832888
1245 S>Y No ClinGen
ExAC
gnomAD
rs1170161442
CA386465885
1246 I>M No ClinGen
gnomAD
rs1373229262
CA386465948
1251 I>S No ClinGen
TOPMed
rs368475621
CA243402329
1251 I>V No ClinGen
ESP
TOPMed
gnomAD
rs1281617397
CA386465978
1253 M>T No ClinGen
gnomAD
rs770093451
CA386466003
1254 Y>* No ClinGen
ExAC
gnomAD
CA386465993
rs1434483100
1254 Y>N No ClinGen
TOPMed
gnomAD
CA386466007
rs566751207
1255 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1255 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6774119
rs566751207
1255 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386466028
rs749297152
1256 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1423463022
CA386466024
1256 H>R No ClinGen
TOPMed
RCV000949786
CA6774121
rs146002202
1257 Q>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374625291
CA6774122
1259 C>* No ClinGen
1000Genomes
ExAC
gnomAD
CA243402346
rs932552749
1260 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA386466076
rs1229048378
1260 P>S No ClinGen
gnomAD
CA6774123
rs760033014
1261 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1266 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745423076
CA243403088
1267 I>L No ClinGen
gnomAD
rs1248750694
CA386466281
1268 L>P No ClinGen
gnomAD
rs369724495
CA6774140
1269 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771075563
CA6774139
1269 S>T No ClinGen
ExAC
gnomAD
rs760992843
CA6774144
1275 D>G No ClinGen
ExAC
gnomAD
CA386466323
rs1361682154
1275 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs764509094
CA6774145
1276 V>I No ClinGen
ExAC
gnomAD
CA6774146
rs776133087
1278 P>R No ClinGen
ExAC
gnomAD
CA6774147
rs201850400
1279 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs149793040
CA6774148
1282 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386466367
rs1327824066
1282 Y>H No ClinGen
gnomAD
CA6774149
rs749901306
1283 H>N No ClinGen
ExAC
CA386466376
rs1390574769
1283 H>R No ClinGen
gnomAD
rs567861529
CA6774151
1284 A>S No ClinGen
1000Genomes
TOPMed
CA243403151
rs567861529
1284 A>T No ClinGen
1000Genomes
TOPMed
CA386466386
rs1315304117
1285 N>H No ClinGen
gnomAD
rs1353111195
CA386466393
1286 K>E No ClinGen
TOPMed
gnomAD
rs1268778982
CA386466398
1286 K>N No ClinGen
gnomAD
CA6774153
rs766389079
1286 K>T No ClinGen
ExAC
gnomAD
rs1032749170
CA243403171
1287 V>I No ClinGen
TOPMed
gnomAD
rs754810954
CA6774155
1288 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781080304
CA6774156
1290 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA386466428
rs1248897552
1291 A>E No ClinGen
gnomAD
CA6774159
rs779023143
1292 S>T No ClinGen
ExAC
gnomAD
CA6774160
rs745935779
1292 S>Y No ClinGen
ExAC
CA386466769
rs1216543819
1297 V>A No ClinGen
gnomAD
rs769110318
CA386466763
1297 V>L No ClinGen
ExAC
gnomAD
rs769110318
CA6774181
1297 V>M No ClinGen
ExAC
gnomAD
rs372460687
CA6774183
1298 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs781600908
CA386466774
1298 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1212587259
CA386466784
1299 R>K No ClinGen
gnomAD
CA6774184
rs138720409
1299 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1211371912
CA386466799
1300 G>D No ClinGen
gnomAD
CA386466812
rs1474789751
1301 Y>C No ClinGen
gnomAD
CA386466810
rs1474789751
1301 Y>S No ClinGen
gnomAD
CA386466823
rs772906903
1302 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA6774185
rs772906903
1302 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs201010974
CA6774187
1303 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759142692
CA6774189
1304 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs773962004
CA6774188
1304 Y>N No ClinGen
ExAC
gnomAD
rs76165721
CA243405870
1307 N>T No ClinGen
Ensembl
rs370089652
CA386466948
1312 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763849845
CA386466954
1312 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6774193
rs763849845
1312 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs370089652
CA6774192
1312 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386466958
rs1476143440
1313 Q>E No ClinGen
gnomAD
rs1328049549
CA386466979
1314 L>F No ClinGen
TOPMed
rs752132829
CA243405895
1315 P>L No ClinGen
gnomAD
CA386467021
rs60293430
1317 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6774196
rs60293430
1317 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755091102
CA243405944
1318 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6774198
rs755091102
1318 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA6774199
rs781720922
1319 C>Y No ClinGen
ExAC
gnomAD
CA6774201
rs376807259
1320 V>M No ClinGen
ESP
ExAC
gnomAD
rs547866870
CA6774202
1321 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA386467113
rs565341019
1323 F>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs565341019
CA6774203
1323 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6774204
rs770661460
1324 Q>L No ClinGen
ExAC
gnomAD
rs962217558
CA243405992
1325 F>L No ClinGen
Ensembl
COSM934731
CA6774205
rs774198876
1328 P>L endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1388208166
CA386467235
1329 S>Y No ClinGen
TOPMed
rs760471189
CA6774209
1334 R>Q No ClinGen
ExAC
gnomAD
rs775480453
CA6774208
1334 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1440536152
CA386467926
1335 M>I No ClinGen
gnomAD
rs371118054
CA6774232
1337 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774233
rs759610928
1338 P>L No ClinGen
ExAC
gnomAD
CA386467961
rs1336806065
1341 I>V No ClinGen
gnomAD
CA6774234
rs767816226
1343 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1271953515
CA386467977
1343 N>I No ClinGen
gnomAD
rs371889237
CA243410755
1346 L>P No ClinGen
Ensembl
rs1026093247
CA243410757
1347 L>V No ClinGen
TOPMed
CA6774235
rs752675320
1349 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA386468011
rs1183809237
1349 H>Y No ClinGen
gnomAD
CA243410765
rs374741330
1350 S>G No ClinGen
ESP
TOPMed
TCGA novel 1350 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1350 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1473072052
CA386468024
1351 T>A No ClinGen
gnomAD
rs764668971
CA386468035
1352 E>D No ClinGen
ExAC
gnomAD
rs1291239963
CA386468052
1355 M>V No ClinGen
Ensembl
rs1474024972
CA386468072
1357 S>N No ClinGen
gnomAD
CA6774240
rs546114684
1358 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs546114684
CA6774239
1358 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs757947070
CA6774242
1360 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA6774243
rs779776432
1360 S>F No ClinGen
ExAC
gnomAD
rs757947070
CA386468089
1360 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA386468097
rs1290833579
1361 P>L No ClinGen
gnomAD
CA386468094
rs1483685368
1361 P>S No ClinGen
TOPMed
CA6774245
rs768222838
1364 Q>P No ClinGen
ExAC
gnomAD
COSM1181492
CA6774246
rs146916735
1365 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs146916735
CA243410863
1365 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748021201
CA6774247
1365 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748021201
CA386468120
1365 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA386468123
rs199811101
1366 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774248
rs199811101
1366 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762833132
CA6774250
1370 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA386468151
rs1210450430
1370 V>I No ClinGen
TOPMed
gnomAD
CA386468153
rs1210450430
1370 V>L No ClinGen
TOPMed
gnomAD
CA243410932
rs996022400
1371 A>S No ClinGen
TOPMed
gnomAD
rs1372985052
CA386468176
1374 R>G No ClinGen
TOPMed
gnomAD
rs772164929
CA6774251
1375 F>L No ClinGen
ExAC
gnomAD
rs1391174151
CA386468190
1376 E>K No ClinGen
gnomAD
CA386468249
rs1327136003
1382 F>L No ClinGen
gnomAD
TCGA novel 1382 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6774275
rs750978502
1383 D>N No ClinGen
ExAC
gnomAD
rs763215607
CA6774277
1384 E>D No ClinGen
ExAC
gnomAD
rs1593655124
CA386468274
1385 V>A No ClinGen
Ensembl
rs751876382
CA6774278
1389 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs199563607
CA6774280
1390 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA386468314
rs1433364441
1391 N>I No ClinGen
gnomAD
CA386468316
rs181464188
1391 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs528800239
CA6774282
COSM1358583
1392 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777571000
CA6774283
1395 D>G No ClinGen
ExAC
gnomAD
rs749302696
CA6774284
1396 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs749302696
CA386468346
1396 T>N No ClinGen
ExAC
gnomAD
rs1368067515
CA386468353
1397 P>H No ClinGen
gnomAD
CA386468354
rs1228509137
1398 L>I No ClinGen
TOPMed
TCGA novel 1398 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565953344 1398 L>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA386468373
rs1306520641
1400 S>N No ClinGen
gnomAD
rs768950144
CA6774288
1401 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6774290
rs748208069
1402 A>D No ClinGen
ExAC
gnomAD
CA6774289
rs777040512
1402 A>T No ClinGen
ExAC
gnomAD
CA386468389
rs1297313839
1403 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs779738351
CA6774291
1403 R>H No ClinGen
ExAC
gnomAD
TCGA novel 1403 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773179278
CA6774292
1404 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6774293
COSM77200
rs763451255
1404 T>I ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6774295
rs774729759
1408 S>C No ClinGen
ExAC
gnomAD
rs185761261
CA6774298
1409 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA243412252
rs532331584
1410 D>V No ClinGen
Ensembl
CA243412255
rs1022801654
1411 D>E No ClinGen
Ensembl
CA386468443
rs1421935887
1412 C>R No ClinGen
TOPMed
gnomAD
rs1421935887
CA386468442
1412 C>S No ClinGen
TOPMed
gnomAD
rs1166803314
CA386468453
1412 C>W No ClinGen
gnomAD
rs1382189506
CA386468514
1414 S>N No ClinGen
TOPMed
gnomAD
rs377006264
CA243412505
1415 L>P No ClinGen
TOPMed
rs993289256
CA243412512
1416 R>K No ClinGen
Ensembl
CA386468567
rs1295797664
1418 E>G No ClinGen
gnomAD
CA386468590
rs1269445680
1420 I>L No ClinGen
TOPMed
rs1229656161
CA386468593
1420 I>T No ClinGen
TOPMed
gnomAD
CA386468588
rs1269445680
1420 I>V No ClinGen
TOPMed
CA386468638
rs1279154799
1422 I>M No ClinGen
gnomAD
rs1211543293
CA386468651
1424 N>H No ClinGen
gnomAD
rs1196055604
CA386468657
1424 N>I No ClinGen
gnomAD
rs577879487
CA243412529
1425 V>L No ClinGen
Ensembl
CA6774324
rs779929141
1426 S>P No ClinGen
ExAC
TOPMed
rs751432143
CA6774325
1427 I>T No ClinGen
ExAC
gnomAD
CA386468710
CA6774327
rs777908450
1428 Q>H No ClinGen
ExAC
gnomAD
CA386468708
rs1186616731
1428 Q>R No ClinGen
gnomAD
CA386468716
rs1449847504
1429 C>R No ClinGen
gnomAD
rs867354965
CA243412555
1430 A>T No ClinGen
TOPMed
rs887481398
CA243412563
1430 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1047151757
CA243412603
1431 D>E No ClinGen
TOPMed
CA6774328
rs749359243
1431 D>H No ClinGen
ExAC
gnomAD
CA386468739
rs749359243
1431 D>N No ClinGen
ExAC
gnomAD
rs770985671
CA6774329
1432 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs1310947968
CA386468768
1433 L>P No ClinGen
TOPMed
CA386468802
rs1178277494
1436 E>K No ClinGen
gnomAD
CA386468832
rs1421308095
1438 L>R No ClinGen
TOPMed
gnomAD
rs190169259
CA6774333
1440 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386468883
rs768329852
1443 R>P No ClinGen
ExAC
gnomAD
CA6774336
rs768329852
1443 R>Q No ClinGen
ExAC
gnomAD
rs200412699
CA6774335
1443 R>W No ClinGen
ExAC
gnomAD
rs1008357337
CA243412644
1444 T>A No ClinGen
TOPMed
gnomAD
CA6774337
rs776186327
1444 T>I No ClinGen
ExAC
gnomAD
rs1206360026
CA386468913
1446 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386468950
rs1371470741
1448 S>T No ClinGen
TOPMed
rs1415839369
CA386468960
1449 K>* No ClinGen
TOPMed
gnomAD
CA6774339
rs764898073
1449 K>T No ClinGen
ExAC
gnomAD
CA6774361
rs766389372
1450 K>R No ClinGen
ExAC
gnomAD
rs774223316
CA6774362
1451 N>S No ClinGen
ExAC
gnomAD
rs1350546192
CA386469844
1454 V>L No ClinGen
gnomAD
rs1350546192
CA386469840
1454 V>M No ClinGen
gnomAD
rs759365037
CA6774363
1459 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6774364
rs375855495
1459 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752545205
CA6774365
1460 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA386469925
rs1203304904
1460 R>Q No ClinGen
gnomAD
CA6774366
rs757426324
1461 I>M No ClinGen
ExAC
gnomAD
CA6774368
rs750476301
1464 L>V No ClinGen
ExAC
gnomAD
CA386469969
rs1367178998
1464 L>W No ClinGen
gnomAD
CA6774369
rs758510596
1465 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA243413976
rs978621100
1465 I>V No ClinGen
TOPMed
gnomAD
CA243414002
rs370218754
1466 A>D No ClinGen
ESP
TOPMed
gnomAD
CA386470152
rs1565955523
1469 K>E No ClinGen
Ensembl
rs374477026
CA6774388
1470 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751664483
CA6774389
1472 P>L No ClinGen
ExAC
gnomAD
TCGA novel 1472 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1002227016
COSM934736
CA243414301
1474 F>L endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
rs980728534
CA243414312
1476 T>S No ClinGen
TOPMed
gnomAD
CA243414320
rs17848825
1480 R>K No ClinGen
Ensembl
rs1555229521
CA386470310
1481 D>E No ClinGen
Ensembl
RCV000973712
rs113524436
CA6774391
1481 D>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs748432369
CA6774392
1482 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA243421526
rs775506034
1484 A>V No ClinGen
Ensembl
rs1367890585
CA386470497
1487 R>C No ClinGen
TOPMed
gnomAD
CA6774418
COSM1181490
rs754289848
1487 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA386470499
rs754289848
1487 R>L No ClinGen
ExAC
gnomAD
COSM1358585
rs756806908
CA6774419
1490 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200016239
CA6774420
1490 R>H Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200016239
CA6774421
1490 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386470530
rs1177288212
1491 H>Q No ClinGen
TOPMed
CA6774422
rs771676923
1492 L>* No ClinGen
ExAC
gnomAD
CA386470613
rs1308328092
1499 Q>* No ClinGen
gnomAD
rs776370396
CA6774426
1499 Q>R No ClinGen
ExAC
TCGA novel 1501 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386470664
rs1321703659
1502 L>F No ClinGen
TOPMed
gnomAD
CA6774427
rs761645142
1502 L>H No ClinGen
ExAC
gnomAD
CA386470662
rs1321703659
1502 L>V No ClinGen
TOPMed
gnomAD
CA386470682
rs1490398179
1503 N>I No ClinGen
gnomAD
rs1024359271
CA243421597
1503 N>K No ClinGen
Ensembl
rs549887432
COSM934740
CA6774431
1504 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6774430
rs759522981
1504 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752832246
CA6774432
1506 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs376720236
CA6774433
1506 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774437
rs146231935
1509 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774436
rs146231935
1509 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386470811
rs1593665591
1510 L>M No ClinGen
Ensembl
rs202085678
CA243421665
1511 T>P No ClinGen
gnomAD
rs779472077
CA6774441
1512 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs779472077
CA6774440
1512 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6774442
rs754860995
1513 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA386470888
rs1394828261
1514 P>A No ClinGen
gnomAD
rs1394828261
CA386470889
1514 P>S No ClinGen
gnomAD
rs200232907
CA243421709
1515 C>Y No ClinGen
Ensembl
rs747892426
CA6774444
1517 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA386470938
rs747892426
1517 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA386470975
rs1442014927
1519 K>T No ClinGen
TOPMed
TCGA novel 1520 M>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386471012
rs1228219666
1521 H>R No ClinGen
gnomAD
rs1381484897
CA386471018
1522 L>I No ClinGen
TOPMed
CA386471063
rs1422164268
1524 L>P No ClinGen
TOPMed
CA386471058
rs1343872980
1524 L>V No ClinGen
gnomAD
rs142663570
CA6774447
1525 G>D No ClinGen
ESP
ExAC
gnomAD
rs772898022
CA6774446
1525 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1528 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760881766
CA386471174
1531 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA6774449
rs775667215
1531 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1388487680
CA386471180
1532 G>D No ClinGen
gnomAD
CA386471188
rs1171171145
1533 V>M No ClinGen
TOPMed
gnomAD
rs934187721
CA243421800
1535 V>M No ClinGen
gnomAD
rs762073299
CA6774453
1536 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6774452
rs777340971
1536 T>P No ClinGen
ExAC
TOPMed
rs1295869222
CA386471234
1537 D>V No ClinGen
gnomAD
CA243421846
rs750758828
1538 H>Q No ClinGen
ExAC
gnomAD
rs758029445
CA6774456
1539 R>G No ClinGen
ExAC
gnomAD
CA6774457
rs766042270
1540 F>S No ClinGen
ExAC
gnomAD
rs774245896
CA6774458
1543 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM430289
CA6774459
rs527660684
1543 R>H Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774245896
CA243421893
1543 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6774460
rs374544605
1544 A>T Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756007626
CA386471356
1548 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs756007626
CA6774462
1548 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1187303491
CA386471392
1551 L>P No ClinGen
gnomAD
rs777581519
CA6774463
1551 L>V No ClinGen
ExAC
gnomAD
rs146039140
CA6774465
1553 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1178696725
CA386471414
1553 T>I No ClinGen
gnomAD
CA386471841
rs1593673180
1555 E>G No ClinGen
Ensembl
rs935320132
CA386471853
1556 A>D No ClinGen
TOPMed
gnomAD
CA243424176
rs935320132
1556 A>G No ClinGen
TOPMed
gnomAD
rs1391872215
CA386471867
1557 S>A No ClinGen
TOPMed
COSM691350
CA6774480
rs756027386
1559 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA386471914
rs1476380806
1561 L>V No ClinGen
TOPMed
rs148713212
CA243424202
1562 Q>K No ClinGen
ESP
TOPMed
gnomAD
rs1290127029
CA386471928
1562 Q>R No ClinGen
gnomAD
rs1253869504
CA386471967
1564 E>A No ClinGen
gnomAD
rs753641748
CA6774482
1564 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386471957
rs753641748
1564 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1320093586
CA386471986
1565 G>S No ClinGen
gnomAD
CA6774484
rs780413964
1567 R>Q No ClinGen
ExAC
gnomAD
CA6774483
rs757188313
1567 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA6774485
rs747173827
1569 L>P No ClinGen
ExAC
CA386472042
rs1482766823
1569 L>V No ClinGen
gnomAD
rs948165947
CA243424230
1573 M>T No ClinGen
TOPMed
CA6774486
rs769005711
1574 D>G No ClinGen
ExAC
gnomAD
rs1191533987
CA386472151
1575 E>K No ClinGen
TOPMed
gnomAD
rs1470799574
CA386472227
1577 E>D No ClinGen
TOPMed
gnomAD
CA386472232
rs1593673473
1578 V>G No ClinGen
Ensembl
TCGA novel 1579 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1045179377
CA243424252
1579 A>V No ClinGen
TOPMed
gnomAD
CA386472275
rs1593673509
1580 F>V No ClinGen
Ensembl
CA6774489
rs374516918
1581 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774491
rs763290011
1583 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA386472348
rs1593673554
1583 T>P No ClinGen
Ensembl
CA6774493
rs774700704
1584 S>I No ClinGen
ExAC
gnomAD
CA6774495
rs767175687
1585 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs752226105
CA6774496
1586 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6774497
rs142393083
1586 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142393083
CA386472466
1586 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753780968
CA6774499
1588 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1341739656
CA386472569
1589 C>G No ClinGen
gnomAD
TCGA novel 1589 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs568586081
CA6774500
1591 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386472634
rs568586081
1591 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386472770
rs1187429871
1595 N>S No ClinGen
gnomAD
rs755204288
CA386472821
1596 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1236307555
CA386472801
1596 F>V No ClinGen
gnomAD
rs781319143
CA6774504
1597 V>M No ClinGen
ExAC
gnomAD
rs199709974
CA6774507
1601 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749726682
CA6774508
1605 F>L No ClinGen
ExAC
gnomAD
rs776234149 1607 I>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA243425231
rs776234149
1607 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA386473871
rs1281495349
1607 I>V No ClinGen
gnomAD
CA6774535
rs374379639
1608 E>K No ClinGen
ESP
ExAC
gnomAD
CA6774536
rs368342694
1609 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774538
rs17848829
1612 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375124672
CA6774540
1612 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386473995
rs375124672
1612 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774539
rs17848829
1612 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756239363
CA6774541
1613 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA386474017
rs756239363
1613 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1196080261
CA386474052
1615 V>I No ClinGen
gnomAD
CA6774542
rs764424142
1616 M>I No ClinGen
ExAC
gnomAD
rs1430817667
CA386474065
1616 M>T No ClinGen
gnomAD
rs753880349
CA6774543
1617 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs547366413
CA6774544
1617 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs562107218
CA6774546
1618 Y>N No ClinGen
1000Genomes
ExAC
gnomAD
CA6774548
rs780244896
1619 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs768173224
CA6774550
1620 S>R No ClinGen
ExAC
gnomAD
CA6774552
rs143327495
1621 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143327495
CA6774551
1621 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1405698927
CA386474178
1621 R>W No ClinGen
TOPMed
gnomAD
rs75780692
CA243425353
1624 K>E No ClinGen
Ensembl
rs199820674
CA6774554
1624 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA243425386
rs569275472
1625 L>F No ClinGen
1000Genomes
CA386474256
rs1355149533
1625 L>H No ClinGen
gnomAD
CA386474251
rs1355149533
1625 L>P No ClinGen
gnomAD
rs1219770419
CA386474259
COSM467753
1626 R>C kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA6774555
rs762757492
1626 R>H No ClinGen
ExAC
gnomAD
rs773991465
CA6774557
1631 E>K No ClinGen
ExAC
gnomAD
CA243425418
rs1039065105
1631 E>V No ClinGen
gnomAD
CA386474374
rs1593677390
1632 V>G No ClinGen
Ensembl
CA386474391
rs1565961854
1633 K>E No ClinGen
Ensembl
rs764292369
CA6774559
1633 K>R No ClinGen
ExAC
gnomAD
CA6774560
rs754114281
1635 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1593677467
CA386474461
1636 I>T No ClinGen
Ensembl
TCGA novel 1637 R>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs998286464
CA243425445
1637 R>C No ClinGen
TOPMed
gnomAD
rs777709102
CA6774562
1637 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs750550202
CA6774563
1638 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA386474498
rs1593677536
1640 T>P No ClinGen
Ensembl
CA243425483
rs201003033
1641 T>A No ClinGen
TOPMed
CA386474510
rs201003033
1641 T>P No ClinGen
TOPMed
CA6774566
rs370014234
1642 G>D No ClinGen
ESP
TOPMed
rs780660597
CA6774565
1642 G>S No ClinGen
ExAC
gnomAD
rs997770121
CA243425492
1643 S>R No ClinGen
Ensembl
CA386474542
rs1244317550
1644 A>G No ClinGen
gnomAD
CA6774568
rs372735105
1644 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774571
rs747735569
1645 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6774570
rs140946857
1645 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1206402963
CA386474565
1647 I>N No ClinGen
gnomAD
CA386474575
rs1481359214
1648 R>C No ClinGen
gnomAD
CA6774573
rs777367863
1648 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386474580
rs1565962009
1649 L>V No ClinGen
Ensembl
CA386474602
rs1255471859
1650 F>L No ClinGen
gnomAD
CA386474587
rs1244632552
1650 F>L No ClinGen
TOPMed
CA386474607
rs1315481067
1651 I>N No ClinGen
TOPMed
rs886638088
CA243425559
1652 T>A No ClinGen
Ensembl
CA6774574
rs748877113
1652 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1387239626
CA386474629
1653 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs774411305
CA386474655
1655 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs774411305
CA6774576
1655 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA243425586
rs878855330
1656 G>A No ClinGen
Ensembl
CA6774579
rs775273258
1660 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA386474722
rs1299237566
1661 I>T No ClinGen
gnomAD
CA6774580
rs761986226
1662 S>C No ClinGen
ExAC
gnomAD
CA6774581
rs765469286
1662 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6774582
rs750449470
1663 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA243425639
rs981830602
1664 Y>C No ClinGen
TOPMed
gnomAD
rs981830602
CA386474761
1664 Y>F No ClinGen
TOPMed
gnomAD
TCGA novel 1666 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6774584
rs766791907
1666 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1308748956
CA386474819
1667 V>G No ClinGen
gnomAD
CA386474837
rs1204679079
1669 D>Y No ClinGen
gnomAD
CA386474859
rs1459927338
1670 S>C No ClinGen
TOPMed
gnomAD
rs1459927338
CA386474856
1670 S>F No ClinGen
TOPMed
gnomAD
CA386474851
rs1255283228
1670 S>P No ClinGen
gnomAD
CA6774585
rs534595742
1671 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1672 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs553023607
CA6774586
1673 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs553023607
CA6774587
1673 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA243426599
rs927523122
1675 I>F No ClinGen
gnomAD
rs937603520
CA243426608
1675 I>N No ClinGen
TOPMed
gnomAD
rs1341618669
CA386475010
1676 M>V No ClinGen
TOPMed
CA386475053
rs1283832745
1679 S>F No ClinGen
TOPMed
gnomAD
rs375445592
CA6774618
1681 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375445592
CA6774617
1681 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386475114
rs1286114860
1682 N>S No ClinGen
gnomAD
CA6774619
rs771079880
1683 K>E No ClinGen
ExAC
gnomAD
rs144908726
CA6774620
1683 K>R No ClinGen
ESP
ExAC
CA6774622
rs768131062
1685 G>E No ClinGen
ExAC
gnomAD
CA6774624
rs61739667
1686 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000908829
rs61739667
CA6774623
1686 P>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1201705276
CA386475204
1688 H>R No ClinGen
gnomAD
rs149012129
CA6774626
1689 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774627
rs756889633
1690 M>L No ClinGen
ExAC
gnomAD
rs199831967
CA6774628
1692 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6774629
rs143004298
1693 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs566589314
CA386475279
1693 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs566589314
CA6774630
1693 N>T No ClinGen
1000Genomes
ExAC
gnomAD
rs779955322
CA6774631
1694 T>I No ClinGen
ExAC
gnomAD
CA243426736
rs61746004
1695 P>A No ClinGen
TOPMed
gnomAD
CA386475302
rs1377834861
1695 P>L No ClinGen
gnomAD
rs754877670
CA6774633
1696 Y>C No ClinGen
ExAC
gnomAD
CA6774635
rs747942138
1697 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA386475328
rs1565963454
1698 T>A No ClinGen
Ensembl
rs1357564043
CA386475381
1702 L>P No ClinGen
gnomAD
rs200000830
CA386475396
1703 Q>H No ClinGen
TOPMed
CA6774637
rs774503137
1706 R>* No ClinGen
ExAC
gnomAD
CA243426789
rs946165056
1706 R>Q No ClinGen
TOPMed
CA243426809
rs777619662
1708 Q>R No ClinGen
Ensembl
TCGA novel 1712 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1437363763
CA386475517
1713 G>E No ClinGen
gnomAD
rs1412786797
CA386475525
1714 T>I No ClinGen
TOPMed
gnomAD
CA386475533
rs1333568959
1715 T>A No ClinGen
TOPMed
gnomAD
CA6774639
rs772219142
1716 Y>C No ClinGen
ExAC
gnomAD
rs1565963526
CA386475542
1716 Y>H No ClinGen
Ensembl
CA6774640
rs775712406
1717 I>V No ClinGen
ExAC
gnomAD
rs1470708892
CA386475570
1718 Y>C No ClinGen
TOPMed
gnomAD
CA6774641
rs746961901
1721 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6774643
rs372726643
CA386475641
1723 M>I No ClinGen
ESP
ExAC
gnomAD
CA6774644
rs762128526
1725 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1283768924
CA386475659
1725 R>K No ClinGen
TOPMed
CA6774645
rs375618828
1726 Q>R No ClinGen
ESP
ExAC
gnomAD
rs767475237
CA386476579
1727 A>D No ClinGen
ExAC
gnomAD
rs767475237
CA6774672
1727 A>G No ClinGen
ExAC
gnomAD
CA6774673
rs151146449
1728 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1340657903
CA386476592
1729 F>L No ClinGen
TOPMed
rs756078266
CA386476604
1730 K>* No ClinGen
ExAC
gnomAD
rs756078266
CA6774674
1730 K>E No ClinGen
ExAC
gnomAD
CA386476608
rs1593690212
1730 K>I No ClinGen
Ensembl
rs1444958372
CA386476612
1731 L>M No ClinGen
gnomAD
CA243429407
rs927699772
1732 W>* No ClinGen
Ensembl
rs753705502
CA6774676
1733 G>S No ClinGen
ExAC
gnomAD
rs563629211
CA243429417
1736 D>G No ClinGen
Ensembl
rs758673805
CA6774677
1736 D>H No ClinGen
ExAC
gnomAD
rs545762685
CA6774678
1739 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA386476749
rs1384753429
1744 T>A No ClinGen
TOPMed
TCGA novel 1745 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747111652
CA6774679
1746 T>S No ClinGen
ExAC
gnomAD
CA386476813
rs1341207989
1749 V>A No ClinGen
gnomAD
rs547982339
CA6774682
1751 D>G No ClinGen
1000Genomes
CA6774681
rs140188899
1751 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169241340
CA386476880
1755 Q>H No ClinGen
TOPMed
CA6774684
rs145398869
1755 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477309746
CA386476909
1757 V>A No ClinGen
gnomAD
rs1234374487
CA386476924
1759 M>L No ClinGen
gnomAD
rs147443159
CA6774685
1760 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6774687
rs568475654
1761 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770566091
CA6774688
1761 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA919171222
rs1593690600
1762 L>H No ClinGen
Ensembl
CA386476994
rs1196665853
1764 G>V No ClinGen
gnomAD
rs1480739582
CA386477008
1766 N>I No ClinGen
gnomAD
TCGA novel 1767 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6774712
rs776770321
1768 V>L No ClinGen
ExAC
gnomAD
rs1593692080
CA386477140
1769 G>S No ClinGen
Ensembl
CA386477168
rs1453752071
1771 V>M No ClinGen
TOPMed
CA6774713
rs142599425
1772 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1772 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386477194
rs1198616474
1772 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6774714
rs765057691
1774 K>R No ClinGen
ExAC
gnomAD
CA243429977
rs144793901
1776 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144793901
CA6774715
1776 R>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1249480636
CA386477259
1776 R>W No ClinGen
gnomAD
rs1004234768
CA243429999
1778 K>* No ClinGen
Ensembl
CA6774716
rs755107823
1779 T>A No ClinGen
ExAC
gnomAD
rs1459847727
CA386477361
1779 T>I No ClinGen
gnomAD
rs138629237
CA6774717
1780 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138629237
CA386477362
1780 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1035181444
CA243430031
1782 Y>C No ClinGen
gnomAD
rs372356232
CA6774718
1783 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774720
RCV000972084
rs144673785
1786 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6774719
rs149326318
1786 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113691648
CA386477551
1787 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6774721
rs754273647
1787 D>V No ClinGen
ExAC
gnomAD
rs746289601
CA6774724
1788 V>A No ClinGen
ExAC
gnomAD
rs143901792
RCV000994972
CA6774723
1788 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs376636256
CA6774726
1790 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1381125002
CA386477601
1790 V>I Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200927603
CA243430132
1791 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386477616
rs1219138053
1791 I>T No ClinGen
gnomAD
CA6774727
rs200927603
1791 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767320354
CA6774729
COSM1358591
1792 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA243430149
rs369716482
1793 N>S No ClinGen
gnomAD
rs1565967967
CA386477632
1794 D>Y No ClinGen
Ensembl
rs761802046
CA6774730
1795 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1205308997
CA386477667
1796 T>A No ClinGen
TOPMed
CA6774732
rs368377350
1798 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368377350
CA243430158
1798 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147281050
CA6774734
1798 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147281050
CA6774733
1798 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs944628807
CA243430184
1799 I>L No ClinGen
Ensembl
rs944628807
CA243430185
1799 I>V No ClinGen
Ensembl
CA386477760
rs1348905142
1800 G>E No ClinGen
TOPMed
CA386477848
rs1178732191
1806 E>K No ClinGen
gnomAD
rs752858458
CA6774736
1807 D>G No ClinGen
ExAC
gnomAD
CA6774735
rs752858458
1807 D>V No ClinGen
ExAC
gnomAD
rs1237700765
CA386477891
1808 L>P No ClinGen
TOPMed
CA6774737
rs764114949
1809 L>P No ClinGen
ExAC
gnomAD
rs753933435
CA6774738
1810 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA6774740
rs201217547
1812 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6774739
rs757735587
1812 R>W Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs920176873
CA243430259
1814 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs750750723
CA386477968
1814 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA6774741
rs750750723
1814 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA6774743
rs61752535
1815 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768455977
CA6774745
1816 M>I No ClinGen
ExAC
gnomAD
rs151300416
COSM934748
CA6774746
1818 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386478021
rs1194484880
1818 R>W No ClinGen
TOPMed
gnomAD
CA6774747
rs747711310
1819 A>E No ClinGen
ExAC
gnomAD
TCGA novel 1821 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386478076
rs1426277634
1821 G>D No ClinGen
TOPMed
gnomAD
CA243430293
rs755812772
1822 I>L No ClinGen
Ensembl
TCGA novel 1822 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386478157
rs773257728
1826 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs563984467
CA6774750
1827 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770693613
CA6774751
1828 A>T No ClinGen
ExAC
gnomAD
rs1363583791
CA386478188
1830 N>D No ClinGen
gnomAD
rs1040141279
CA243430338
1830 N>S No ClinGen
TOPMed
CA6774753
rs760833780
1833 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386478231
rs1227635489
1833 A>V No ClinGen
TOPMed
CA6774755
rs753882249
1834 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369007554
CA6774756
1834 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765652687
CA6774757
1835 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1339445294
CA386478257
1836 G>D No ClinGen
TOPMed
CA243430369
rs892730248
1837 M>K No ClinGen
TOPMed
gnomAD
CA386478276
rs1418231763
1838 A>T No ClinGen
TOPMed
CA6774759
rs758838058
1839 E>K No ClinGen
ExAC
TOPMed
rs754719145
CA386478303
1840 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs751996107
CA386478312
1840 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs754719145
CA6774760
1840 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6774762
rs754655827
1841 I>M No ClinGen
ExAC
gnomAD
rs552607556
CA6774763
1844 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs186791789
CA243430417
1845 F>Y No ClinGen
1000Genomes
TOPMed
gnomAD
CA6774764
rs200269069
1847 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs377282068
CA243430424
1848 A>S No ClinGen
Ensembl
CA386478392
rs1593693227
1850 V>G No ClinGen
Ensembl
rs777152194
CA6774767
1852 P>A No ClinGen
ExAC
gnomAD
CA386478420
rs1353864389
1854 D>E No ClinGen
gnomAD
CA6774769
rs770791529
1855 P>L No ClinGen
ExAC
gnomAD
CA243430465
rs919136966
1857 K>E No ClinGen
Ensembl
CA6774797
rs762985234
1858 G>E No ClinGen
ExAC
gnomAD
rs1195739386
CA386478458
1859 F>L No ClinGen
TOPMed
gnomAD
CA243431517
rs941823205
1860 K>R No ClinGen
Ensembl
rs766991887
CA386478476
1861 Y>C No ClinGen
ExAC
gnomAD
CA6774798
rs766991887
1861 Y>F No ClinGen
ExAC
gnomAD
rs766991887
CA386478475
1861 Y>S No ClinGen
ExAC
gnomAD
CA386478482
rs1296546691
1862 L>P No ClinGen
TOPMed
rs760123410
CA6774800
1863 Y>C No ClinGen
ExAC
gnomAD
rs774939307
CA6774799
1863 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs552016893
CA6774801
1864 L>M No ClinGen
1000Genomes
ExAC
gnomAD
CA243431534
rs369637962
1867 Q>E No ClinGen
ESP
TOPMed
CA386478522
rs1325925078
1869 Y>H No ClinGen
gnomAD
rs760349515
CA6774803
1870 T>A No ClinGen
ExAC
gnomAD
CA6774804
rs763690194
1871 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6774805
rs753381133
1871 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1254607487
CA386478540
1872 I>V No ClinGen
gnomAD
CA6774806
rs756815651
1873 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs890012204
CA243431560
1875 L>P No ClinGen
TOPMed
TCGA novel 1877 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201210568
CA6774808
1878 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1480715439
CA386478585
1879 H>R No ClinGen
TOPMed
CA6774810
rs369208008
1879 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs534560643
CA6774811
1880 C>* No ClinGen
1000Genomes
ExAC
gnomAD
rs1263755103
CA386478592
1880 C>Y No ClinGen
gnomAD
CA386478601
rs1565970018
1881 K>I No ClinGen
Ensembl
CA6774812
rs746829930
1882 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6774814
rs769016037
1883 I>V No ClinGen
ExAC
gnomAD
CA6774816
rs771066298
1884 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA243431618
rs771066298
1884 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386478636
rs1417866380
1886 G>V No ClinGen
gnomAD
rs200447481
CA243431619
1889 S>C No ClinGen
TOPMed
gnomAD
rs745985251
CA6774840
1892 M>V No ClinGen
ExAC
gnomAD
CA6774841
COSM1358593
rs772701854
1894 T>M large_intestine Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761256936
CA6774843
1895 D>G No ClinGen
ExAC
gnomAD
CA386479397
rs1204450065
1896 I>V No ClinGen
TOPMed
CA6774844
rs3742025
1898 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA386479431
rs1370651167
1899 K>R No ClinGen
gnomAD
TCGA novel 1901 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs951118683
CA243433039
1901 D>N No ClinGen
TOPMed
CA243433042
rs763187516
1902 G>D No ClinGen
Ensembl
CA6774846
rs182648370
COSM3398319
1905 V>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386479501
rs1311758591
1906 E>* No ClinGen
TOPMed
rs1019749237
CA243433083
1910 G>C No ClinGen
TOPMed
gnomAD
rs1381592742
CA386479557
1911 S>L No ClinGen
gnomAD
rs1331542979
CA386479553
1911 S>P No ClinGen
gnomAD
CA386479581
rs1565972674
1913 M>I No ClinGen
Ensembl
CA386479576
rs1565972667
1913 M>T No ClinGen
Ensembl
CA243433088
rs370565979
1913 M>V No ClinGen
ESP
TOPMed
rs1240209209
CA386479596
1914 I>M No ClinGen
Ensembl
rs1393751059
CA386479588
1914 I>V No ClinGen
gnomAD
CA386479640
rs1385951692
1919 S>F No ClinGen
TOPMed
TCGA novel 1919 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113576948
CA6774851
1923 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs113576948
CA6774850
1923 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1199040454
CA386479689
1924 E>K No ClinGen
gnomAD
CA386479716
rs1483058438
COSM3396051
1926 V>F breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA386479713
rs1483058438
1926 V>I No ClinGen
gnomAD
CA243434362
rs908651756
1932 T>P No ClinGen
Ensembl
CA6774873
rs756030544
1933 C>W No ClinGen
ExAC
rs763992618
CA6774874
1934 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs763992618
CA386479920
1934 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1244056
CA243434374
rs1049370630
1934 R>Q Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA243434379
rs1006807395
1935 A>T No ClinGen
gnomAD
CA243434400
rs145331950
1936 I>F No ClinGen
ESP
rs750604068
CA6774875
1938 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1297454252
CA386479980
1938 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386480002
rs1292013476
1939 G>A No ClinGen
Ensembl
rs747162842
CA6774878
1945 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA243434423
rs747162842
1945 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA386480128
rs1593708276
1947 Q>R No ClinGen
Ensembl
CA6774880
COSM934754
rs554134867
1948 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748501859
CA6774881
1948 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770089749
CA6774883
1951 Q>H No ClinGen
ExAC
gnomAD
CA243434442
rs201515530
1953 E>G No ClinGen
gnomAD
CA386480240
rs1193313772
1955 S>Y No ClinGen
gnomAD
rs768497415
CA386480247
1956 H>D No ClinGen
ExAC
gnomAD
rs768497415
CA6774884
1956 H>Y No ClinGen
ExAC
gnomAD
rs770662949
CA6774887
1958 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs759151956
CA6774889
1961 G>* No ClinGen
ExAC
gnomAD
CA6774890
rs772121085
1965 L>V No ClinGen
ExAC
gnomAD
rs1372411670
CA386480430
1966 N>K No ClinGen
gnomAD
rs1299837600
CA386480924
1970 G>E No ClinGen
gnomAD
rs1265910496
CA386480952
1974 Y>C No ClinGen
TOPMed
CA6774911
rs17848833
1975 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386480966
rs1186463927
1976 S>F No ClinGen
gnomAD
CA386480963
rs1229125408
1976 S>T No ClinGen
gnomAD
CA6774912
rs761735425
1977 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA6774913
rs766501542
1977 N>I No ClinGen
ExAC
gnomAD
rs766501542
CA386480970
1977 N>S No ClinGen
ExAC
gnomAD
CA243440477
rs773088100
1979 Q>E No ClinGen
Ensembl
rs150383484
CA6774914
1979 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6774916
rs138134900
1983 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6774917
rs752819679
1986 M>I No ClinGen
ExAC
gnomAD
CA386481025
rs1593710903
1986 M>V No ClinGen
Ensembl
rs1342179071
CA386481053
1989 N>K No ClinGen
TOPMed
rs756578908
CA6774918
1989 N>S No ClinGen
ExAC
gnomAD
rs778315261
CA6774919
1990 G>D No ClinGen
ExAC
gnomAD
CA386481061
rs1593710978
1991 V>F No ClinGen
Ensembl
rs187297100
CA6774921
1995 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1340487891
CA386481091
1995 T>I No ClinGen
gnomAD
rs1340487891
CA386481089
1995 T>N No ClinGen
gnomAD
CA6774923
rs138582469
1996 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6774924
rs771875652
1997 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs779690066
CA6774925
1998 D>Y No ClinGen
ExAC
gnomAD
rs1165811168
CA386481144
2003 V>A No ClinGen
TOPMed
CA386481140
rs1418410802
2003 V>F No ClinGen
TOPMed
CA6774927
rs768710971
2005 T>A No ClinGen
ExAC
gnomAD
CA386481157
COSM200747
rs1210244624
2005 T>I large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs961822385
CA243440526
2010 L>P No ClinGen
TOPMed
CA386481193
rs1593711180
2011 S>A No ClinGen
Ensembl
CA386481196
rs1265795868
2011 S>F No ClinGen
TOPMed
rs780066853
CA243440534
2012 Y>C No ClinGen
Ensembl
TCGA novel 2012 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6774930
rs769568596
2013 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1185933720
CA386481237
2016 D>N No ClinGen
TOPMed
rs775631148
CA6774953
2017 N>K No ClinGen
ExAC
gnomAD
rs764191587
CA6774955
2026 P>S No ClinGen
ExAC
gnomAD
rs17848835
CA6774956
2027 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17848835
CA386481314
2027 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386481324
rs1593713684
2029 P>T No ClinGen
Ensembl
CA386481333
rs1290862244
2030 I>T No ClinGen
gnomAD
rs76447919
CA6774959
2030 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1002314071
CA386481341
2031 D>E No ClinGen
Ensembl
rs202214692
CA243441037
2031 D>N No ClinGen
1000Genomes
gnomAD
CA6774960
rs758892562
2031 D>V No ClinGen
ExAC
gnomAD
CA243441060
rs910034631
2034 I>T No ClinGen
TOPMed
CA6774961
rs766867483
2034 I>V No ClinGen
ExAC
gnomAD
CA386481379
rs751194997
2037 L>F No ClinGen
ExAC
gnomAD
rs751194997
CA6774962
2037 L>V No ClinGen
ExAC
gnomAD
rs1219133501
CA386481392
2039 S>Y No ClinGen
gnomAD
COSM1706246
CA6774964
rs780707436
2044 D>N skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs747649594
CA6774965
2045 P>T No ClinGen
ExAC
gnomAD
rs148572580
CA6774967
2046 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756072465
CA6774966
2046 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA6774968
rs749234124
2047 W>C No ClinGen
ExAC
gnomAD
CA386481439
rs1282187226
2047 W>R No ClinGen
TOPMed
rs1246649143
CA386481456
2049 L>F No ClinGen
TOPMed
rs1037280241
CA243441082
2049 L>R No ClinGen
TOPMed
rs1297446012
CA386481464
2050 A>V No ClinGen
TOPMed
rs770645594
CA6774969
2052 R>S No ClinGen
ExAC
gnomAD
rs866739492
CA243441092
2055 P>S No ClinGen
Ensembl
rs768920623
CA6774994
2056 T>I No ClinGen
ExAC
CA6774995
rs142964772
2060 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766323958
CA6774998
2061 W>* No ClinGen
ExAC
gnomAD
rs150701956
CA6775000
2064 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 2065 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1409317544
CA386481649
TCGA novel
2065 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
rs377624412
CA6775001
2066 F>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774849156
CA6775002
2068 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1381592318
CA386481685
2068 H>Y No ClinGen
gnomAD
rs201323153
CA6775004
2069 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143974380
CA386481764
2075 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6775005
rs143974380
2075 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1302937131
CA386481781
2076 A>V No ClinGen
TOPMed
rs990567251
CA243442110
2078 W>* No ClinGen
TOPMed
CA386481810
rs760406701
2079 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs760406701
CA386481812
2079 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6775006
rs760406701
2079 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6775007
rs763546332
2079 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6775008
rs753394219
2080 Q>R No ClinGen
ExAC
gnomAD
rs558993185
CA243442128
2081 T>N No ClinGen
Ensembl
CA386481841
rs1170639005
2082 V>M No ClinGen
gnomAD
rs778889891
CA6775010
2083 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA386481866
rs1304054803
2084 T>A No ClinGen
gnomAD
CA386481878
rs1482420345
2085 G>R No ClinGen
gnomAD
rs1399317882
CA386481887
2086 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs758071550
CA6775012
2086 R>Q No ClinGen
ExAC
gnomAD
rs1462003565
CA386481894
2087 A>P No ClinGen
TOPMed
TCGA novel 2089 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386482287
rs1177499354
2090 G>E No ClinGen
TOPMed
rs1217182399
CA386482290
2091 G>R No ClinGen
gnomAD
rs751366693 2092 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6775034
rs778196187
2093 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA6775035
rs778196187
2093 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA6775037
rs146424440
2094 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386482331
rs1255740316
2095 G>E No ClinGen
TOPMed
TCGA novel 2095 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA243443196
rs917086033
2096 V>A No ClinGen
TOPMed
CA386482349
rs1438496584
2097 I>F No ClinGen
gnomAD
CA386482360
rs1484145030
2098 A>S No ClinGen
TOPMed
rs746310831
CA6775038
2098 A>V No ClinGen
ExAC
gnomAD
CA386482373
rs1401190747
2099 V>A No ClinGen
TOPMed
gnomAD
rs1409590054
CA386482368
2099 V>L No ClinGen
gnomAD
rs373662394
CA6775039
2101 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6775041
rs368938120
2102 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6775040
rs747445383
2102 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs768285792
CA6775042
2104 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs776208578
CA6775043
2106 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA6775044
rs761460741
2107 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764688506
CA6775045
2107 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6775047
rs762779977
2108 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs772804579
CA6775046
2108 V>I No ClinGen
ExAC
gnomAD
rs766383618
CA6775048
2109 P>A No ClinGen
ExAC
gnomAD
CA6775049
rs751311068
2114 N>D No ClinGen
ExAC
gnomAD
CA6775050
rs754757968
2114 N>S No ClinGen
ExAC
gnomAD
rs140894382
CA243443259
2119 A>G No ClinGen
ESP
TOPMed
gnomAD
CA386482490
rs1387119399
2119 A>T No ClinGen
TOPMed
rs140894382
CA386482494
2119 A>V No ClinGen
ESP
TOPMed
gnomAD
rs767421139
CA6775051
2120 K>Q No ClinGen
ExAC
gnomAD
CA386482498
rs1470255097
2120 K>R No ClinGen
gnomAD
rs1565981760
CA386482531
2123 Q>R No ClinGen
Ensembl
CA386482536
rs1427291466
2124 Q>E No ClinGen
TOPMed
gnomAD
rs1427291466
CA386482535
2124 Q>K No ClinGen
TOPMed
gnomAD
CA386482538
rs1383902989
2124 Q>P No ClinGen
TOPMed
rs1003623660
CA243443638
2126 G>R No ClinGen
gnomAD
rs762094121
CA6775077
2127 Q>* No ClinGen
ExAC
gnomAD
CA6775078
rs765561863
2127 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA243443647
rs1050966102
2127 Q>P No ClinGen
TOPMed
gnomAD
rs1433685343
CA386482696
2128 V>M No ClinGen
TOPMed
rs373328609
CA6775079
2130 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377654795
CA6775080
2132 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1425654392
CA386482776
2133 S>A No ClinGen
TOPMed
CA6775081
rs369413010
2134 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752022633
CA6775082
2135 Y>S No ClinGen
ExAC
gnomAD
CA6775083
rs755503238
2137 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs145553418
CA6775085
2138 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6775086
rs769331822
2138 A>V No ClinGen
ExAC
TOPMed
rs1475845404
CA386482826
2140 A>V No ClinGen
gnomAD
CA6775088
VAR_031257
rs2075260
2141 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6775089
rs770430319
2142 K>E No ClinGen
ExAC
gnomAD
rs759521668
CA6775091
2145 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA6775092
rs759521668
2145 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA386482858
rs759521668
2145 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA6775093
rs374132389
2146 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386482862
COSM2150980
rs1380838784
2146 R>W Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA386482872
rs1327433127
2147 E>D No ClinGen
gnomAD
rs143558242
CA6775094
2148 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386482890
rs1300821089
2150 P>H No ClinGen
gnomAD
rs750592937
CA6775096
2151 L>P No ClinGen
ExAC
gnomAD
CA6775095
rs763809724
2151 L>V No ClinGen
ExAC
gnomAD
rs763118062
CA6775097
2152 M>K No ClinGen
ExAC
gnomAD
CA6775098
rs766434655
2153 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA6775099
rs751690673
2155 A>G No ClinGen
ExAC
gnomAD
CA386482920
rs1206864081
2155 A>S No ClinGen
TOPMed
gnomAD
rs755448815
CA6775100
2156 N>K No ClinGen
ExAC
gnomAD
CA243443721
rs942712421
2156 N>S No ClinGen
gnomAD
CA386482935
rs1455612943
2157 W>* No ClinGen
gnomAD
rs1251379555
CA386482932
2157 W>* No ClinGen
gnomAD
rs866743131
CA243443730
2158 R>K No ClinGen
Ensembl
rs866743131
CA386482941
2158 R>M No ClinGen
Ensembl
CA6775101
rs768083563
2159 G>E No ClinGen
ExAC
gnomAD
CA6775102
rs148052616
2162 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756430740
CA6775103
2164 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1408784649
CA386482977
2164 M>T No ClinGen
TOPMed
rs930244308
CA243443745
2164 M>V No ClinGen
Ensembl
TCGA novel 2165 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386483196
rs1268669464
2166 D>G No ClinGen
Ensembl
rs778025671
CA6775104
2166 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1047587347
CA243444364
2167 M>L No ClinGen
TOPMed
gnomAD
TCGA novel 2169 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs906556852
CA243444367
2170 Q>E No ClinGen
TOPMed
rs1259332969
CA386483268
2176 A>G No ClinGen
gnomAD
TCGA novel 2176 A>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6775152
rs781052311
2178 I>V No ClinGen
ExAC
gnomAD
rs748133359
CA6775153
2179 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs769515194
CA243444391
2180 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA6775155
rs530383151
2181 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 2183 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6775157
rs772317756
2186 K>E No ClinGen
ExAC
gnomAD
rs775631853
CA6775158
2187 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA243444409
rs775631853
2187 Q>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2188 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6775160
rs146283042
2192 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1321419779
CA386483379
2193 I>T No ClinGen
gnomAD
CA6775161
rs139082246
2194 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1371906682
CA386483389
2195 P>S No ClinGen
gnomAD
rs1305513603
CA386483397
2196 Y>C No ClinGen
gnomAD
rs143111072
CA6775166
2197 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143111072
COSM200752
CA6775165
2197 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751071189
CA6775169
2200 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs766014747
CA6775168
2200 R>W No ClinGen
ExAC
gnomAD
COSM1244058
rs754391562
CA6775170
2201 G>R oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA243444465
rs866118060
2203 S>Y No ClinGen
Ensembl
CA6775172
rs752524224
2204 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA6775171
rs570493501
2204 W>R No ClinGen
1000Genomes
ExAC
gnomAD
CA6775173
rs756090747
2207 I>M No ClinGen
ExAC
gnomAD
rs777510923
CA6775174
2211 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6775175
rs372069080
2213 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386483601
rs1458647667
2218 M>I No ClinGen
TOPMed
gnomAD
CA386483598
rs1593733861
2218 M>T No ClinGen
Ensembl
rs747258931
CA6775178
2219 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 2219 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386483644
rs1479869354
2222 K>T No ClinGen
TOPMed
CA6775179
rs368094089
2223 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776795041
CA6775180
2224 S>N No ClinGen
ExAC
gnomAD
CA243445092
rs139062970
2226 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756933792
CA6775193
2226 G>S No ClinGen
ExAC
gnomAD
CA6775194
rs139062970
2226 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1185055620
CA386483946
2228 V>I No ClinGen
gnomAD
rs747150912
CA6775195
2229 L>M No ClinGen
ExAC
gnomAD
rs967146071
CA243445097
2229 L>P No ClinGen
TOPMed
gnomAD
CA6775196
rs755278354
2232 E>A No ClinGen
ExAC
gnomAD
CA243445102
rs1023404958
2236 E>Q No ClinGen
TOPMed
CA6775198
rs748306546
2237 I>N No ClinGen
ExAC
gnomAD
CA386484005
rs748306546
2237 I>T No ClinGen
ExAC
gnomAD
COSM138897
rs573571761
CA6775199
2240 R>* Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6775200
COSM1358605
rs773800691
2240 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1449142569
CA386484034
2242 K>Q No ClinGen
TOPMed
rs749821054
CA6775201
2243 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2243 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6775202
rs771163687
2245 I>M No ClinGen
ExAC
gnomAD
rs1031038503
CA243445111
2248 M>L No ClinGen
gnomAD
rs149957235
CA6775203
2250 R>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1349923714
CA386484102
2252 D>N No ClinGen
TOPMed
gnomAD
rs774964456
CA6775206
2253 P>R No ClinGen
ExAC
gnomAD
CA6775205
rs200696584
2253 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386484110
rs200696584
2253 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA243445117
rs921895997
2254 A>T No ClinGen
Ensembl
CA6775208
rs763597132
2259 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA6775207
rs760118179
2259 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA386484150
rs1445076672
2259 M>V No ClinGen
gnomAD
CA386484161
rs765591079
2260 E>D No ClinGen
gnomAD
CA6775209
rs79982724
2260 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386484170
rs1565985179
2261 Q>H No ClinGen
Ensembl
CA386484168
rs1193064359
2261 Q>P No ClinGen
gnomAD
CA6775210
rs757239951
2262 L>I No ClinGen
ExAC
rs764919005
CA6775212
2263 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6775211
rs764919005
2263 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA6775231
rs554851210
2264 E>* No ClinGen
1000Genomes
ExAC
gnomAD
rs768199367
CA386484197
2265 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs768199367
CA6775232
2265 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA243445453
rs768199367
2265 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA6775235
rs777982597
2266 D>Y No ClinGen
ExAC
CA6775236
rs754010885
2267 L>F No ClinGen
ExAC
TOPMed
CA6775240
rs764352111
2269 D>H No ClinGen
ExAC
gnomAD
rs764352111
CA6775239
2269 D>N No ClinGen
ExAC
gnomAD
CA6775241
rs772380197
2270 K>E No ClinGen
ExAC
gnomAD
CA6775242
rs200890630
2272 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386484257
rs200890630
2272 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746633480
CA386484261
2272 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs746633480
CA6775243
2272 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1593744290
CA386484291
2275 L>P No ClinGen
Ensembl
CA386484306
rs1418115427
2277 G>S No ClinGen
TOPMed
rs374238980
CA6775247
2277 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386484314
rs199967038
2278 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6775249
rs762817382
2278 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs199967038
CA6775248
2278 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6775250
rs766233619
2279 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA386484327
rs1185041978
2280 K>E No ClinGen
gnomAD
CA386484335
rs950982550
2280 K>N No ClinGen
TOPMed
CA243445455
rs140157645
2280 K>R No ClinGen
ESP
TOPMed
CA386484340
rs1316543956
2281 A>V No ClinGen
TOPMed
CA6775252
rs537638499
2282 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA386484346
rs537638499
2282 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs565580708
CA6775253
2282 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386484351
rs565580708
2282 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA243445457
rs751883969
2283 E>G No ClinGen
Ensembl
CA6775254
rs754013468
2283 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386484368
rs1593744496
2284 D>A No ClinGen
Ensembl
rs778883908
CA6775256
2285 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA6775259
rs758944938
2289 I>F No ClinGen
ExAC
rs1354513681
CA386484450
2292 Q>* No ClinGen
TOPMed
gnomAD
CA386484474
rs1291617779
2294 A>T No ClinGen
gnomAD
rs139826793
CA6775261
2294 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386484487
rs1250814181
2295 V>L No ClinGen
gnomAD
CA6775264
rs747767589
2298 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs772625780
CA6775266
2299 D>N No ClinGen
ExAC
gnomAD
CA386484560
rs1258750802
2301 H>N No ClinGen
gnomAD
rs749202356
CA6775267
2303 T>A No ClinGen
ExAC
TOPMed
CA6775270
rs140217207
2305 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA243445460
rs985569218
2306 R>G No ClinGen
TOPMed
gnomAD
RCV000963972
rs149917930
CA6775271
2306 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs985569218
CA243445459
2306 R>W No ClinGen
TOPMed
gnomAD
rs776865424
CA6775272
2307 M>V No ClinGen
ExAC
gnomAD
CA386484656
rs1432844241
2310 K>N No ClinGen
gnomAD
CA6775274
rs765330713
2311 G>D No ClinGen
ExAC
gnomAD
CA6775276
rs374342222
2312 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1295128208
CA386484681
2313 I>V No ClinGen
TOPMed
gnomAD
rs756781717
CA6775302
2315 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1023866977
CA243445535
2316 I>T No ClinGen
Ensembl
rs889421938
CA243445534
2316 I>V No ClinGen
TOPMed
gnomAD
CA6775303
rs778599057
2318 E>V No ClinGen
ExAC
gnomAD
TCGA novel 2320 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386484828
rs1156628506
2321 T>N No ClinGen
TOPMed
gnomAD
RCV000144494
CA233224
rs587776495
2322 A>T No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA6775305
rs779886492
2323 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6775306
rs147616769
2323 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA243445537
rs147616769
2323 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6775308
rs773362975
2324 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs763182651
CA386484912
2324 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs773362975
CA386484909
2324 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs763182651
CA6775309
2324 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA386484919
rs1391367247
2325 F>L No ClinGen
gnomAD
CA6775310
rs770956314
2325 F>S No ClinGen
ExAC
gnomAD
CA243445538
rs374601185
2327 Y>C No ClinGen
Ensembl
CA6775311
rs560469698
2329 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6775312
rs146268113
2329 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147871680
COSM4135715
CA6775315
2331 R>C pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs367989648
CA6775316
2331 R>H No ClinGen
ESP
ExAC
gnomAD
CA6775318
rs753504188
2332 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA386484954
rs753504188
2332 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6775319
rs778545831
2332 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6775317
rs753504188
2332 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6775320
rs750013056
2333 L>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2336 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6775321
rs758352184
2337 D>E No ClinGen
ExAC
gnomAD
rs1472798707
CA386484985
2337 D>G No ClinGen
gnomAD
TCGA novel 2338 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA243445539
rs952057988
2339 V>L No ClinGen
TOPMed
rs1403865212
CA386485002
2340 K>E No ClinGen
gnomAD
CA6775322
rs779789094
2343 I>F No ClinGen
ExAC
gnomAD
rs746978944
CA6775324
2343 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs947597320
CA243445541
2343 I>N No ClinGen
Ensembl
rs371799472
CA6775325
2344 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749479081
CA6775326
2346 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1410849544
CA386485047
2347 S>G No ClinGen
gnomAD
CA386485054
CA6775328
rs368598355
2348 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6775329
rs759471647
2349 E>K No ClinGen
ExAC
CA6775330
rs772210651
2349 E>V No ClinGen
ExAC
rs1457429304
CA386485073
2351 S>N No ClinGen
gnomAD
CA6775331
rs200707789
2352 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200707789
CA386485079
2352 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386485086
rs764524027
2353 V>L No ClinGen
ExAC
gnomAD
CA6775333
rs764524027
2353 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA243445543
rs942852049
2355 I>T No ClinGen
Ensembl
CA6775334
rs754305943
2356 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs117537396
CA6775336
2358 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763392961
CA243445544
COSM1181500
2360 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
COSM934767
CA6775337
rs750093564
2360 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs372645487
CA6775338
2361 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386485136
rs1414559790
2361 R>H No ClinGen
gnomAD
CA243445545
rs202202415
2363 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386485155
rs552167251
2364 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6775340
rs552167251
2364 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1430991724
CA386485160
2365 E>K No ClinGen
gnomAD
COSM1244060
CA6775341
rs754980151
2366 T>M Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1045463282
CA243445546
2369 A>P No ClinGen
TOPMed
gnomAD
rs1593747954
CA386485198
2369 A>V No ClinGen
Ensembl
CA243445558
rs143664715
2372 A>V No ClinGen
ESP
TOPMed
CA6775373
rs773664849
2375 W>* No ClinGen
ExAC
gnomAD
CA243445560
rs868387365
2379 Q>* No ClinGen
Ensembl
CA386485351
rs1429694512
2379 Q>H No ClinGen
TOPMed
rs148106171
CA6775374
2380 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6775376
rs773725666
2381 V>A No ClinGen
ExAC
gnomAD
CA6775375
rs141894238
2381 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373300737
CA6775377
2382 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386485385
rs1278737592
2383 Q>* No ClinGen
gnomAD
rs1270275506
CA386485399
2384 W>* No ClinGen
TOPMed
gnomAD
rs564704950
CA6775379
2384 W>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201163993
CA6775380
2386 E>G No ClinGen
ExAC
gnomAD
CA386485423
rs753726473
2387 Q>* No ClinGen
ExAC
gnomAD
CA386485424
rs753726473
2387 Q>E No ClinGen
ExAC
gnomAD
CA6775382
rs753726473
2387 Q>K No ClinGen
ExAC
gnomAD
CA243445561
rs113795346
2387 Q>R No ClinGen
Ensembl
rs377337560
CA6775383
2390 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751845562
CA6775385
2394 G>V No ClinGen
ExAC
gnomAD
rs755059216
CA6775386
2395 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6775389
rs770471527
2396 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs777984086
CA6775390
2396 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386485527
rs368703551
2397 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138987031
CA243445563
2397 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138987031
CA6775391
2397 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6775392
rs368703551
2397 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774009369
CA6775393
2398 T>A No ClinGen
ExAC
gnomAD
CA386485528
rs774009369
2398 T>P No ClinGen
ExAC
gnomAD
rs200727585
CA6775394
2398 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1309922426
CA386485545
2399 I>L No ClinGen
TOPMed
CA386485551
rs1288792968
2399 I>T No ClinGen
gnomAD
rs775033613
CA6775396
2400 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6775397
rs368161191
2400 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1263753550
CA386485560
2401 E>K No ClinGen
TOPMed
gnomAD
rs764160682
CA6775398
2402 N>S No ClinGen
ExAC
gnomAD
rs1467795383
CA386485590
2403 I>T No ClinGen
TOPMed
rs1041265067
CA243445564
2403 I>V No ClinGen
gnomAD
CA6775399
rs753723591
2404 T>A No ClinGen
ExAC
gnomAD
CA6775400
rs761612668
2404 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1593749068
CA386485604
2405 Y>S No ClinGen
Ensembl
CA386485628
rs941070297
2408 H>Q No ClinGen
TOPMed
gnomAD
rs1369634080
CA386485624
2408 H>Y No ClinGen
gnomAD
CA6775406
rs139766548
2409 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144520667
CA6775405
2409 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6775407
rs778271612
2410 S>F No ClinGen
ExAC
gnomAD
CA6775409
rs749768594
2412 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2414 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386485686
rs1593749200
2414 T>P No ClinGen
Ensembl
CA6775412
rs745499690
2415 I>V No ClinGen
ExAC
gnomAD
CA6775413
rs771773850
COSM3687938
2416 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6775414
rs201073233
2416 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386485719
rs1565989459
2417 G>C No ClinGen
Ensembl
rs1051688848
CA243445638
2419 V>A No ClinGen
TOPMed
gnomAD
TCGA novel 2419 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 2421 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386485845
rs1593751156
2422 N>T No ClinGen
Ensembl
rs762766039
CA6775438
2423 P>T No ClinGen
ExAC
gnomAD
rs775802513
CA6775440
2424 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386485883
rs1441671018
2425 V>A No ClinGen
TOPMed
gnomAD
rs1441671018
CA386485884
2425 V>G No ClinGen
TOPMed
gnomAD
CA6775442
rs746443616
2427 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs757781859
CA6775444
2429 C>G No ClinGen
ExAC
gnomAD
TCGA novel 2430 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765667379
CA6775445
2431 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs750941564
CA6775446
2432 Y>D No ClinGen
ExAC
gnomAD
CA386485985
rs1362672345
2434 S>N No ClinGen
TOPMed
CA243445639
CA386485991
COSM430293
rs1017078502
2434 S>R Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
TOPMed
NCI-TCGA
rs1010092113
CA243445640
2436 H>N No ClinGen
TOPMed
rs770528273
CA243445641
2436 H>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2438 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386486048
rs1330553155
2439 P>L No ClinGen
gnomAD
rs780429705
CA6775448
2441 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6775451
rs540153010
2442 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746640949
CA6775450
2442 R>W No ClinGen
ExAC
gnomAD
CA6775452
rs780740079
2443 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs765367679
CA243445642
2445 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA386486104
rs765367679
2445 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs765367679
CA6775455
2445 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA386486109
rs551014194
2446 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6775457
rs551014194
COSM934771
2446 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1210304724
CA386486140
2449 L>V No ClinGen
gnomAD
CA6775459
rs760943186
2451 T>A No ClinGen
ExAC
gnomAD
rs1368683298
CA386486178
2452 M>I No ClinGen
gnomAD
rs1295815113
CA386486173
2452 M>T No ClinGen
gnomAD
rs1409631810
CA386486180
2453 D>N No ClinGen
gnomAD
rs1286884708
CA386486222
2454 S>R No ClinGen
gnomAD
CA6775460
rs775854758
2455 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA386486226
rs1351922103
2455 P>S No ClinGen
gnomAD
rs372784451
CA6775462
2456 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386486249
rs1593751648
2457 S>P No ClinGen
Ensembl
CA6775464
rs750890672
2458 T>P No ClinGen
ExAC
CA6775465
rs763489374
2459 T>C No ClinGen
ExAC

No associated diseases with O00763

10 regional properties for O00763

Type Name Position InterPro Accession
domain Biotin/lipoyl attachment 888 - 962 IPR000089
domain Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain 431 - 614 IPR005479
domain Biotin carboxylase-like, N-terminal domain 260 - 379 IPR005481
domain Biotin carboxylase, C-terminal 650 - 757 IPR005482
domain ATP-grasp fold 414 - 609 IPR011761
domain Acetyl-coenzyme A carboxyltransferase, N-terminal 1695 - 2025 IPR011762
domain Acetyl-coenzyme A carboxyltransferase, C-terminal 2029 - 2345 IPR011763
domain Biotin carboxylation domain 259 - 761 IPR011764
domain Acetyl-CoA carboxylase, central domain 962 - 1688 IPR013537
domain Acetyl-CoA carboxylase 1780 - 2333 IPR034733

Functions

Description
EC Number 6.4.1.2 Forming carbon-carbon bonds
Subcellular Localization
  • Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name Definition
acetyl-CoA carboxylase activity Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
biotin binding Binding to biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions.
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.

14 GO annotations of biological process

Name Definition
acetyl-CoA metabolic process The chemical reactions and pathways involving acetyl-CoA, a derivative of coenzyme A in which the sulfhydryl group is acetylated; it is a metabolite derived from several pathways (e.g. glycolysis, fatty acid oxidation, amino-acid catabolism) and is further metabolized by the tricarboxylic acid cycle. It is a key intermediate in lipid and terpenoid biosynthesis.
energy homeostasis Any process involved in the balance between food intake (energy input) and energy expenditure.
fatty acid biosynthetic process The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes.
malonyl-CoA biosynthetic process The chemical reactions and pathways resulting in the formation of malonyl-CoA, the S-malonyl derivative of coenzyme A.
negative regulation of catalytic activity Any process that stops or reduces the activity of an enzyme.
negative regulation of fatty acid beta-oxidation Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid beta-oxidation.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of heart growth Any process that increases the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart.
positive regulation of lipid storage Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
protein homotetramerization The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits.
regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.
response to nutrient levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.
response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P11029 ACAC Acetyl-CoA carboxylase Gallus gallus (Chicken) PR
Q13085 ACACA Acetyl-CoA carboxylase 1 Homo sapiens (Human) PR
Q5SWU9 Acaca Acetyl-CoA carboxylase 1 Mus musculus (Mouse) PR
E9Q4Z2 Acacb Acetyl-CoA carboxylase 2 Mus musculus (Mouse) PR
P11497 Acaca Acetyl-CoA carboxylase 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MVLLLCLSCL IFSCLTFSWL KIWGKMTDSK PITKSKSEAN LIPSQEPFPA SDNSGETPQR
70 80 90 100 110 120
NGEGHTLPKT PSQAEPASHK GPKDAGRRRN SLPPSHQKPP RNPLSSSDAA PSPELQANGT
130 140 150 160 170 180
GTQGLEATDT NGLSSSARPQ GQQAGSPSKE DKKQANIKRQ LMTNFILGSF DDYSSDEDSV
190 200 210 220 230 240
AGSSRESTRK GSRASLGALS LEAYLTTGEA ETRVPTMRPS MSGLHLVKRG REHKKLDLHR
250 260 270 280 290 300
DFTVASPAEF VTRFGGDRVI EKVLIANNGI AAVKCMRSIR RWAYEMFRNE RAIRFVVMVT
310 320 330 340 350 360
PEDLKANAEY IKMADHYVPV PGGPNNNNYA NVELIVDIAK RIPVQAVWAG WGHASENPKL
370 380 390 400 410 420
PELLCKNGVA FLGPPSEAMW ALGDKIASTV VAQTLQVPTL PWSGSGLTVE WTEDDLQQGK
430 440 450 460 470 480
RISVPEDVYD KGCVKDVDEG LEAAERIGFP LMIKASEGGG GKGIRKAESA EDFPILFRQV
490 500 510 520 530 540
QSEIPGSPIF LMKLAQHARH LEVQILADQY GNAVSLFGRD CSIQRRHQKI VEEAPATIAP
550 560 570 580 590 600
LAIFEFMEQC AIRLAKTVGY VSAGTVEYLY SQDGSFHFLE LNPRLQVEHP CTEMIADVNL
610 620 630 640 650 660
PAAQLQIAMG VPLHRLKDIR LLYGESPWGV TPISFETPSN PPLARGHVIA ARITSENPDE
670 680 690 700 710 720
GFKPSSGTVQ ELNFRSSKNV WGYFSVAATG GLHEFADSQF GHCFSWGENR EEAISNMVVA
730 740 750 760 770 780
LKELSIRGDF RTTVEYLINL LETESFQNND IDTGWLDYLI AEKVQAEKPD IMLGVVCGAL
790 800 810 820 830 840
NVADAMFRTC MTDFLHSLER GQVLPADSLL NLVDVELIYG GVKYILKVAR QSLTMFVLIM
850 860 870 880 890 900
NGCHIEIDAH RLNDGGLLLS YNGNSYTTYM KEEVDSYRIT IGNKTCVFEK ENDPTVLRSP
910 920 930 940 950 960
SAGKLTQYTV EDGGHVEAGS SYAEMEVMKM IMTLNVQERG RVKYIKRPGA VLEAGCVVAR
970 980 990 1000 1010 1020
LELDDPSKVH PAEPFTGELP AQQTLPILGE KLHQVFHSVL ENLTNVMSGF CLPEPVFSIK
1030 1040 1050 1060 1070 1080
LKEWVQKLMM TLRHPSLPLL ELQEIMTSVA GRIPAPVEKS VRRVMAQYAS NITSVLCQFP
1090 1100 1110 1120 1130 1140
SQQIATILDC HAATLQRKAD REVFFINTQS IVQLVQRYRS GIRGYMKTVV LDLLRRYLRV
1150 1160 1170 1180 1190 1200
EHHFQQAHYD KCVINLREQF KPDMSQVLDC IFSHAQVAKK NQLVIMLIDE LCGPDPSLSD
1210 1220 1230 1240 1250 1260
ELISILNELT QLSKSEHCKV ALRARQILIA SHLPSYELRH NQVESIFLSA IDMYGHQFCP
1270 1280 1290 1300 1310 1320
ENLKKLILSE TTIFDVLPTF FYHANKVVCM ASLEVYVRRG YIAYELNSLQ HRQLPDGTCV
1330 1340 1350 1360 1370 1380
VEFQFMLPSS HPNRMTVPIS ITNPDLLRHS TELFMDSGFS PLCQRMGAMV AFRRFEDFTR
1390 1400 1410 1420 1430 1440
NFDEVISCFA NVPKDTPLFS EARTSLYSED DCKSLREEPI HILNVSIQCA DHLEDEALVP
1450 1460 1470 1480 1490 1500
ILRTFVQSKK NILVDYGLRR ITFLIAQEKE FPKFFTFRAR DEFAEDRIYR HLEPALAFQL
1510 1520 1530 1540 1550 1560
ELNRMRNFDL TAVPCANHKM HLYLGAAKVK EGVEVTDHRF FIRAIIRHSD LITKEASFEY
1570 1580 1590 1600 1610 1620
LQNEGERLLL EAMDELEVAF NNTSVRTDCN HIFLNFVPTV IMDPFKIEES VRYMVMRYGS
1630 1640 1650 1660 1670 1680
RLWKLRVLQA EVKINIRQTT TGSAVPIRLF ITNESGYYLD ISLYKEVTDS RSGNIMFHSF
1690 1700 1710 1720 1730 1740
GNKQGPQHGM LINTPYVTKD LLQAKRFQAQ TLGTTYIYDF PEMFRQALFK LWGSPDKYPK
1750 1760 1770 1780 1790 1800
DILTYTELVL DSQGQLVEMN RLPGGNEVGM VAFKMRFKTQ EYPEGRDVIV IGNDITFRIG
1810 1820 1830 1840 1850 1860
SFGPGEDLLY LRASEMARAE GIPKIYVAAN SGARIGMAEE IKHMFHVAWV DPEDPHKGFK
1870 1880 1890 1900 1910 1920
YLYLTPQDYT RISSLNSVHC KHIEEGGESR YMITDIIGKD DGLGVENLRG SGMIAGESSL
1930 1940 1950 1960 1970 1980
AYEEIVTISL VTCRAIGIGA YLVRLGQRVI QVENSHIILT GASALNKVLG REVYTSNNQL
1990 2000 2010 2020 2030 2040
GGVQIMHYNG VSHITVPDDF EGVYTILEWL SYMPKDNHSP VPIITPTDPI DREIEFLPSR
2050 2060 2070 2080 2090 2100
APYDPRWMLA GRPHPTLKGT WQSGFFDHGS FKEIMAPWAQ TVVTGRARLG GIPVGVIAVE
2110 2120 2130 2140 2150 2160
TRTVEVAVPA DPANLDSEAK IIQQAGQVWF PDSAYKTAQA VKDFNREKLP LMIFANWRGF
2170 2180 2190 2200 2210 2220
SGGMKDMYDQ VLKFGAYIVD GLRQYKQPIL IYIPPYAELR GGSWVVIDAT INPLCIEMYA
2230 2240 2250 2260 2270 2280
DKESRGGVLE PEGTVEIKFR KKDLIKSMRR IDPAYKKLME QLGEPDLSDK DRKDLEGRLK
2290 2300 2310 2320 2330 2340
AREDLLLPIY HQVAVQFADF HDTPGRMLEK GVISDILEWK TARTFLYWRL RRLLLEDQVK
2350 2360 2370 2380 2390 2400
QEILQASGEL SHVHIQSMLR RWFVETEGAV KAYLWDNNQV VVQWLEQHWQ AGDGPRSTIR
2410 2420 2430 2440 2450
ENITYLKHDS VLKTIRGLVE ENPEVAVDCV IYLSQHISPA ERAQVVHLLS TMDSPAST