Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for O75153

Entry ID Method Resolution Chain Position Source
AF-O75153-F1 Predicted AlphaFoldDB

1231 variants for O75153

Variant ID(s) Position Change Description Diseaes Association Provenance
CA8283571
rs201361018
RCV000508604
1183 D>H Hirschsprung disease, susceptibility to, 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397656704
rs1345704800
2 L>I No ClinGen
gnomAD
CA397656699
rs1476924166
2 L>R No ClinGen
TOPMed
rs1304605953
CA397656686
4 N>I No ClinGen
gnomAD
rs372372818
CA286948330
5 G>R No ClinGen
ESP
TOPMed
gnomAD
rs1168061153
CA397656676
6 D>Y No ClinGen
gnomAD
rs1041341826
CA286948326
8 P>L No ClinGen
TOPMed
gnomAD
CA397656657
rs1041341826
8 P>R No ClinGen
TOPMed
gnomAD
rs1421455673
CA397656645
10 S>N No ClinGen
gnomAD
CA397656636
rs1169660149
11 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 12 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761532142
CA8285054
15 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA286948323
rs953540168
16 A>S No ClinGen
Ensembl
CA8285053
rs367881781
16 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs945829721
CA286948315
17 A>S No ClinGen
TOPMed
gnomAD
rs945829721
CA397656576
17 A>T No ClinGen
TOPMed
gnomAD
rs746244540
CA8285051
17 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs372091511
CA8285048
19 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777803170
CA8285047
20 P>T No ClinGen
ExAC
gnomAD
rs1015115102
CA286948261
24 N>S No ClinGen
gnomAD
TCGA novel 26 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397656508
CA8285045
rs781424734
27 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs754663425
CA8285043
28 E>D No ClinGen
ExAC
gnomAD
CA286948246
rs1051504426
28 E>K No ClinGen
TOPMed
gnomAD
CA286948218
rs934194853
30 G>D No ClinGen
TOPMed
gnomAD
rs766153587
CA8285041
30 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8285040
rs758323365
31 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758323365
CA397656488
31 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758323365
CA397656487
31 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 32 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397656468
rs1182567903
34 E>G No ClinGen
gnomAD
rs370308550
CA8285037
36 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764787924
CA8285038
36 T>S No ClinGen
ExAC
gnomAD
rs377462406
CA8285035
37 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1343817946
CA397656441
39 E>K No ClinGen
gnomAD
rs983215116
CA286948114
40 V>A No ClinGen
TOPMed
CA397656429
rs983215116
40 V>G No ClinGen
TOPMed
CA397656424
rs1350059647
41 I>T No ClinGen
TOPMed
rs1279806351
CA397656421
42 V>I No ClinGen
gnomAD
CA397656407
rs1438360627
44 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8285034
rs760307515
44 Q>H No ClinGen
ExAC
gnomAD
CA8285033
rs774778650
46 T>A No ClinGen
ExAC
gnomAD
rs771243070
CA8285032
46 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA397656387
rs1408268016
47 G>C No ClinGen
gnomAD
CA397656386
rs1331913267
47 G>D No ClinGen
gnomAD
CA397656367
rs1401704585
50 V>L No ClinGen
gnomAD
rs1159379382
CA397656354
52 I>V No ClinGen
gnomAD
CA397656344
rs1567596671
53 L>H No ClinGen
Ensembl
rs893485696
CA397656341
54 A>S No ClinGen
TOPMed
gnomAD
COSM2799744
COSM2799745
rs893485696
CA286948047
54 A>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA397656340
rs1445733349
54 A>V No ClinGen
gnomAD
rs544102456
CA397656336
55 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8285026
rs544102456
55 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8285024
rs779874600
57 I>F No ClinGen
ExAC
gnomAD
rs201016965
CA397656321
57 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397656325
rs779874600
57 I>V No ClinGen
ExAC
gnomAD
CA8285022
rs750344066
58 E>K No ClinGen
ExAC
gnomAD
CA397656313
rs1351144771
59 P>S No ClinGen
gnomAD
CA397656312
rs1351144771
59 P>T No ClinGen
gnomAD
TCGA novel 60 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 60 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1282388732
CA397656295
61 S>F No ClinGen
gnomAD
CA8285021
rs557751325
61 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768559063
CA286948041
63 Q>R No ClinGen
Ensembl
CA397656093
rs1435882715
64 V>A No ClinGen
gnomAD
CA397656095
rs1291840871
64 V>L No ClinGen
gnomAD
CA8284982
rs371929718
65 S>Y No ClinGen
ESP
ExAC
gnomAD
rs1423340901
CA397656081
66 P>L No ClinGen
gnomAD
rs1207243016
CA397656084
66 P>S No ClinGen
TOPMed
TCGA novel 67 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1177334387 67 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs367955542
CA8284980
68 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752164477
CA8284979
69 M>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 72 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597622027
CA397656007
76 V>G No ClinGen
Ensembl
CA397655997
rs765536846
78 M>R No ClinGen
ExAC
gnomAD
rs765536846
CA8284975
78 M>T No ClinGen
ExAC
gnomAD
CA8284976
rs751259194
78 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs567580688
CA286946951
80 R>G No ClinGen
gnomAD
CA8284974
rs762114359
80 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs567580688
CA397655985
80 R>W No ClinGen
gnomAD
CA8284973
rs754301042
83 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA397655947
rs1218655695
85 H>Q No ClinGen
gnomAD
CA397655941
rs1377764355
86 R>H No ClinGen
gnomAD
CA8284969
rs772321344
89 F>S No ClinGen
ExAC
rs759812919
CA8284968
92 H>Y No ClinGen
ExAC
gnomAD
CA397655869
rs1419710806
97 V>A No ClinGen
TOPMed
gnomAD
CA397655873
rs1174918205
97 V>M No ClinGen
TOPMed
gnomAD
rs199946016
CA8284964
100 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA8284962
rs748184428
102 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs754504703
CA8284960
103 E>Q No ClinGen
ExAC
gnomAD
CA8284959
rs746623392
105 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs550332953
CA397655792
105 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550332953
CA8284958
105 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8284957
rs757581358
106 S>G No ClinGen
ExAC
gnomAD
rs371781621
CA8284955
107 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1314104939
CA397655753
108 E>K No ClinGen
gnomAD
rs753308512
CA8284953
108 E>V No ClinGen
ExAC
gnomAD
TCGA novel 113 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774649116
COSM976805
COSM976806
CA8284950
117 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1368918508
CA397655615
117 R>S No ClinGen
gnomAD
rs1422046793
CA397655608
118 V>M No ClinGen
gnomAD
rs368270746
CA8284936
122 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8284933
rs370845530
124 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750678711
CA8284929
126 R>C No ClinGen
ExAC
gnomAD
rs1389876216
CA397655389
126 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA286945220
rs895497307
127 E>D No ClinGen
TOPMed
gnomAD
CA397655348
rs1466937789
129 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs764898710
CA8284928
129 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764898710
CA286945212
129 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8284926
rs776492697
132 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA397655273
rs1201024736
134 H>N No ClinGen
gnomAD
rs760668084
CA8284924
134 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs771664686
CA8284922
137 D>H No ClinGen
ExAC
gnomAD
rs1597619909
CA397655193
139 L>P No ClinGen
Ensembl
CA8284920
rs778662076
140 K>R No ClinGen
ExAC
gnomAD
CA397655131
rs1243958389
143 D>G No ClinGen
TOPMed
CA397655138
rs1276282162
143 D>H No ClinGen
gnomAD
CA8284916
rs755538744
146 D>G No ClinGen
ExAC
gnomAD
CA8284917
rs781728255
146 D>N Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752153628
CA8284915
147 A>T No ClinGen
ExAC
gnomAD
rs1330394729
CA397655026
150 G>E No ClinGen
gnomAD
CA397655034
rs1486212398
150 G>R No ClinGen
TOPMed
CA397654994
rs1403102524
152 D>E No ClinGen
gnomAD
rs758534660
CA8284913
152 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8284912
rs750544852
154 N>H No ClinGen
ExAC
gnomAD
CA397654961
rs1464785892
154 N>K No ClinGen
gnomAD
rs1394556359
CA397654944
156 L>S No ClinGen
gnomAD
rs1423805796
CA397654895
161 V>A No ClinGen
TOPMed
rs1423805796
CA397654894
161 V>G No ClinGen
TOPMed
rs374296887
CA286945097
162 F>L No ClinGen
ESP
rs1194496270
CA397654889
162 F>V No ClinGen
TOPMed
CA8284909
rs532628319
164 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8284906
rs775523268
165 G>D No ClinGen
ExAC
gnomAD
rs760580215
CA8284907
165 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8284904
rs759094720
166 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8284878
rs75023474
170 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397654675
rs1487144055
171 G>E No ClinGen
gnomAD
CA8284876
rs757349320
171 G>R No ClinGen
ExAC
gnomAD
CA8284874
rs777979457
172 K>N No ClinGen
ExAC
gnomAD
CA8284875
rs749474991
172 K>R No ClinGen
ExAC
gnomAD
CA8284872
rs76563327
173 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs76563327
CA8284871
173 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs755849179
CA8284873
173 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8284868
rs765939683
175 K>R No ClinGen
ExAC
gnomAD
rs1220688360
CA397654594
176 G>V No ClinGen
gnomAD
rs1269649590
CA397654560
COSM3937293
COSM3937294
178 E>D oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1437305395
CA397654543
179 M>I No ClinGen
gnomAD
rs762554283
CA8284867
180 D>G No ClinGen
ExAC
gnomAD
rs1461434602
CA397654510
181 P>L No ClinGen
gnomAD
CA397654518
rs1438626769
181 P>S No ClinGen
TOPMed
CA397654501
rs1292002653
182 I>N No ClinGen
TOPMed
CA397654508
rs1401480341
182 I>V No ClinGen
gnomAD
rs201221332
CA8284863
183 D>G No ClinGen
1000Genomes
ExAC
rs761439519
CA8284864
183 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1418379894
CA397654476
184 C>Y No ClinGen
gnomAD
rs1290649297
CA397654470
185 T>A No ClinGen
TOPMed
rs1260253825
CA397654463
186 P>T No ClinGen
gnomAD
CA397654454
rs1478728234
187 P>L No ClinGen
gnomAD
rs1228353500
CA397654452
188 E>K No ClinGen
TOPMed
rs1219561673
CA397654424
192 P>A No ClinGen
TOPMed
gnomAD
rs1219561673
CA397654423
192 P>S No ClinGen
TOPMed
gnomAD
rs1196578727
CA397654401
195 R>Q No ClinGen
TOPMed
gnomAD
rs368488282
CA8284860
195 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397654400
rs1305930757
196 E>K No ClinGen
gnomAD
rs770933896
CA8284859
197 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1272595354
CA397654391
197 R>W No ClinGen
gnomAD
rs1040801274
CA286943214
198 P>Q No ClinGen
TOPMed
rs1369834342
CA397654388
198 P>S No ClinGen
gnomAD
CA397654383
rs749387226
199 L>M No ClinGen
ExAC
gnomAD
rs749387226
CA8284858
199 L>V No ClinGen
ExAC
gnomAD
CA397654366
rs1333734628
201 P>L No ClinGen
gnomAD
CA397654369
rs1378362177
201 P>S No ClinGen
gnomAD
CA8284855
rs748359247
203 Q>* No ClinGen
ExAC
gnomAD
rs781020122
CA8284854
205 Q>E No ClinGen
ExAC
gnomAD
rs751445378
CA8284852
207 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs780152388
CA8284851
207 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1349347656
CA397654319
209 W>R No ClinGen
TOPMed
CA8284850
rs758466305
210 K>E No ClinGen
ExAC
gnomAD
CA397654308
rs1480187473
210 K>R No ClinGen
gnomAD
rs1286678912
CA397654287
211 P>L No ClinGen
gnomAD
rs1279112482
CA397654266
214 C>F No ClinGen
TOPMed
rs1203968711
CA397654270
214 C>R No ClinGen
TOPMed
rs773732576
CA8284822
216 K>Q No ClinGen
ExAC
CA8284821
rs769880098
217 V>I No ClinGen
ExAC
gnomAD
CA397654244
rs1166604144
218 L>F No ClinGen
gnomAD
rs1007286257
CA286942955
219 T>I No ClinGen
Ensembl
rs1415881952
CA397654230
220 M>I No ClinGen
gnomAD
rs761809741
CA8284820
220 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1597618737
CA397654222
221 S>N No ClinGen
Ensembl
rs1478311187
CA397654219
222 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA397654192
rs1236770652
225 P>L No ClinGen
TOPMed
rs1263904990
CA397654196
225 P>S No ClinGen
gnomAD
CA8284817
rs747274261
227 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1224149204
CA397654179
228 G>R No ClinGen
gnomAD
CA397654164
rs1173346907
230 R>W No ClinGen
TOPMed
rs1199536788
CA397654156
231 K>R No ClinGen
TOPMed
gnomAD
rs930045639
CA286942911
232 M>L No ClinGen
Ensembl
rs1342045707
CA397654136
234 G>R No ClinGen
gnomAD
CA397654122
rs1292764717
236 L>I No ClinGen
TOPMed
gnomAD
CA8284809
rs777411628
237 M>I No ClinGen
ExAC
gnomAD
rs202243507
CA397654116
CA8284810
237 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs900829748
CA286942903
237 M>R No ClinGen
TOPMed
TCGA novel 238 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1171179895
CA397654095
240 F>V No ClinGen
gnomAD
CA8284807
rs752396406
242 I>N No ClinGen
ExAC
gnomAD
CA397654079
rs752396406
242 I>T No ClinGen
ExAC
gnomAD
rs1362356177
CA397654072
243 T>I No ClinGen
TOPMed
rs1427999737
CA397654066
244 A>D No ClinGen
gnomAD
CA397654067
rs1427999737
244 A>G No ClinGen
gnomAD
rs1191062948
CA397654071
244 A>T No ClinGen
gnomAD
CA286942878
COSM705881
COSM705880
rs889303135
245 E>K lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs750878615
CA8284804
247 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1196033304
CA397654049
247 R>W No ClinGen
TOPMed
gnomAD
rs762446311
CA8284802
249 V>A No ClinGen
ExAC
gnomAD
rs765646625
CA8284803
249 V>I No ClinGen
ExAC
gnomAD
rs1249271366
CA397654033
250 S>G No ClinGen
gnomAD
CA397654014
rs1378513701
252 T>I No ClinGen
gnomAD
rs771924837
CA8284797
253 A>T Variant assessed as Somatic; 4.787e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8284796
rs745668813
253 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs749288560
CA8284793
255 T>I No ClinGen
ExAC
gnomAD
CA397653993
rs1398823356
257 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755648223
CA8284791
260 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1477249953
CA397653955
262 Q>R No ClinGen
TOPMed
rs1473331062
CA397653928
264 T>I No ClinGen
gnomAD
CA397653923
rs1419493121
265 A>G No ClinGen
gnomAD
rs769712260
CA8284756
267 H>R No ClinGen
ExAC
gnomAD
CA397653877
rs1445159724
269 N>S No ClinGen
TOPMed
gnomAD
CA397653876
rs1445159724
269 N>T No ClinGen
TOPMed
gnomAD
rs1597618089
CA397653847
271 K>N No ClinGen
Ensembl
CA397653851
rs1283484486
271 K>R No ClinGen
TOPMed
gnomAD
CA397653831
rs1484249442
273 A>G No ClinGen
TOPMed
CA8284752
rs200340260
273 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200340260
CA8284753
273 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1291279785
CA397653821
274 S>I No ClinGen
gnomAD
CA397653809
rs1355120132
275 P>S No ClinGen
gnomAD
rs200260191
CA8284750
276 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1211988
COSM1211987
rs1325127440
CA397653795
276 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA397653802
rs200260191
276 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1318259011
CA397653783
277 F>C No ClinGen
gnomAD
rs778351446
CA8284748
281 S>C No ClinGen
ExAC
gnomAD
rs778351446
CA397653733
281 S>F No ClinGen
ExAC
gnomAD
rs201192387
CA8284743
287 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201192387
CA8284744
287 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 288 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284741
rs190673247
288 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1199486003
CA397653657
288 Q>L No ClinGen
gnomAD
CA8284740
rs750186200
289 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA8284737
rs748663843
291 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs748663843
CA286942499
291 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8284738
rs761686051
291 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA397653569
rs1359935327
295 K>R No ClinGen
gnomAD
rs371156312
CA8284733
298 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM976801
COSM976800
rs371156312
CA8284734
298 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8284732
rs745549139
299 V>A No ClinGen
ExAC
gnomAD
CA397653520
rs1373889510
299 V>L No ClinGen
gnomAD
rs1440666732
CA397653470
303 K>T No ClinGen
gnomAD
TCGA novel 304 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397653416
rs1479752009
304 R>S No ClinGen
gnomAD
COSM976798
CA286942094
rs1042270982
COSM976797
307 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1486688798
CA397653382
309 P>L No ClinGen
gnomAD
CA397653375
rs746019720
CA8284705
310 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA397653363
rs1318101839
312 R>T No ClinGen
gnomAD
rs757533008
CA8284703
314 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs757533008
CA397653352
314 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA397653342
rs1303896044
315 T>I No ClinGen
TOPMed
rs1372079320
CA397653341
316 P>T No ClinGen
gnomAD
rs1379269378
CA397653317
319 V>L No ClinGen
TOPMed
rs1416301523
CA397653291
322 W>R No ClinGen
gnomAD
CA8284701
rs763833709
323 T>I No ClinGen
ExAC
gnomAD
CA8284700
rs756058091
324 A>S No ClinGen
ExAC
gnomAD
rs752600034
CA8284699
324 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1418288101
CA397653259
326 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 326 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1418382371 326 Q>R Variant assessed as Somatic; 0.000118 impact. [NCI-TCGA] No NCI-TCGA
CA8284697
rs759122325
327 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA397653225
rs1255464194
330 A>T No ClinGen
gnomAD
rs774092523
CA8284696
331 M>I No ClinGen
ExAC
gnomAD
rs566844565
CA8284694
334 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs566844565
CA8284693
334 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397653183
rs1316679421
335 R>C No ClinGen
gnomAD
CA286942017
rs553383193
335 R>H No ClinGen
1000Genomes
TOPMed
CA8284691
rs369945969
338 D>G No ClinGen
ESP
ExAC
gnomAD
CA8284689
rs772080746
339 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA286941967
rs999073959
341 T>N No ClinGen
Ensembl
CA397653134
rs1363904039
341 T>S No ClinGen
gnomAD
TCGA novel 342 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284687
rs368378574
342 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1295413574
CA397653112
344 L>V No ClinGen
TOPMed
gnomAD
rs749523200
CA8284685
346 Y>C No ClinGen
ExAC
gnomAD
CA286941945
rs901468538
346 Y>N No ClinGen
Ensembl
rs1463166552
CA397653071
349 H>D No ClinGen
gnomAD
COSM1302526
rs752614619
COSM1302525
CA8284682
350 I>V urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA397653054
rs1429216828
351 P>S No ClinGen
TOPMed
gnomAD
CA397653055
rs1429216828
351 P>T No ClinGen
TOPMed
gnomAD
rs1597616631
CA397653017
354 T>P No ClinGen
Ensembl
rs1162587903
CA397653008
355 R>G No ClinGen
Ensembl
rs1232072166
CA397653006
355 R>P No ClinGen
TOPMed
gnomAD
rs1232072166
CA397653005
355 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 359 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284655
rs757983008
363 T>M No ClinGen
ExAC
TOPMed
gnomAD
COSM976791
rs1392153994
COSM976792
CA397652928
364 T>M Variant assessed as Somatic; 9.474e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs761592587
CA8284652
365 R>K No ClinGen
ExAC
gnomAD
CA397652924
rs1480071143
365 R>W No ClinGen
TOPMed
gnomAD
rs767916245
CA286941702
369 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs767916245
CA8284650
369 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs774872170
CA8284649
369 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8284648
rs774872170
369 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs767916245
CA8284651
369 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA397652881
rs1377403599
370 K>N No ClinGen
gnomAD
rs1453162712
CA397652886
370 K>R No ClinGen
gnomAD
CA397652877
rs1597616540
371 N>T No ClinGen
Ensembl
rs762956291
CA8284646
373 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs373728509
CA8284645
374 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397652838
rs1203745670
375 R>Q No ClinGen
gnomAD
rs1597616505
CA397652821
376 L>R No ClinGen
Ensembl
rs1281930358
CA397652812
377 L>V No ClinGen
gnomAD
CA397652781
rs1208598829
379 E>Q No ClinGen
gnomAD
rs748445663
CA8284643
380 R>K No ClinGen
ExAC
gnomAD
rs748445663
CA286941632
380 R>T No ClinGen
ExAC
gnomAD
CA8284642
rs776547933
382 I>L No ClinGen
ExAC
gnomAD
CA8284641
rs202115661
382 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776547933
CA397652734
382 I>V No ClinGen
ExAC
gnomAD
CA8284640
rs746873716
383 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA397652694
rs1332818542
384 K>R No ClinGen
gnomAD
rs1332818542
CA397652696
384 K>T No ClinGen
gnomAD
CA8284610
rs765160567
385 V>M No ClinGen
ExAC
gnomAD
CA8284609
rs761993985
386 H>Y No ClinGen
ExAC
gnomAD
rs1404467638
CA397652404
388 D>E No ClinGen
gnomAD
rs1162241330
CA397652409
388 D>Y No ClinGen
gnomAD
rs764403568
CA8284607
391 A>T No ClinGen
ExAC
gnomAD
COSM1381929
CA8284606
rs761016997
COSM1381928
391 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs376241839
CA286939691
394 T>S No ClinGen
ESP
TOPMed
gnomAD
rs1025856941
CA286939678
395 R>G No ClinGen
TOPMed
rs1469642628
CA397652353
395 R>M No ClinGen
gnomAD
rs748785564
CA8284600
397 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8284597
rs747849159
398 M>V No ClinGen
ExAC
gnomAD
rs780236660
CA8284596
399 A>T No ClinGen
ExAC
gnomAD
CA397652322
rs1340574569
400 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 401 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284594
rs147005034
401 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1373639535
CA397652301
403 G>R No ClinGen
gnomAD
CA397652302
rs1373639535
403 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA397652284
rs1597613169
405 V>G No ClinGen
Ensembl
CA397652288
rs895833832
CA286939659
405 V>L No ClinGen
TOPMed
gnomAD
rs895833832
CA397652287
405 V>M No ClinGen
TOPMed
gnomAD
CA8284592
rs757903397
406 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs753937062
CA8284591
407 A>T No ClinGen
ExAC
gnomAD
CA8284590
rs764317372
410 P>T No ClinGen
ExAC
gnomAD
rs1369464189
CA397652250
411 S>G No ClinGen
gnomAD
CA397652241
rs1455565845
412 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA286939632
rs992152787
416 M>L No ClinGen
TOPMed
rs759389438
CA8284586
416 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA8284587
rs759389438
416 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs992152787
CA397652211
416 M>V No ClinGen
TOPMed
CA397652204
rs1233996088
417 Q>* No ClinGen
TOPMed
gnomAD
CA397652202
rs1233666925
417 Q>R No ClinGen
gnomAD
rs774074883
CA8284585
418 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1264726896
CA397652181
420 I>V No ClinGen
TOPMed
rs1476585527
CA397652159
422 N>K No ClinGen
TOPMed
CA8284583
rs762920735
423 N>I No ClinGen
ExAC
gnomAD
CA8284582
rs769320744
424 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs769320744
CA8284581
424 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA397652146
rs1299594427
425 F>I No ClinGen
TOPMed
gnomAD
rs1373538192 426 F>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs201028474
CA8284577
428 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1357385594
CA397652103
431 D>H No ClinGen
gnomAD
CA8284575
rs757815512
432 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 433 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401086451
CA397652089
433 R>Q No ClinGen
TOPMed
gnomAD
CA8284574
rs754416489
434 D>E No ClinGen
ExAC
gnomAD
TCGA novel 434 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284573
rs777960112
437 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs756266614
CA8284572
438 D>H No ClinGen
ExAC
gnomAD
rs756266614
CA397652056
438 D>N No ClinGen
ExAC
gnomAD
CA397652044
rs1275492138
439 F>C No ClinGen
TOPMed
rs752806033
CA286939579
CA8284571
439 F>L No ClinGen
ExAC
gnomAD
CA8284570
rs767767257
440 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs752224729 442 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs752224729 442 D>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA8284565
rs762830262
443 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 444 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369298872
CA286939519
444 A>T No ClinGen
ESP
rs1246731058
CA397652000
447 V>M No ClinGen
TOPMed
rs746688846
CA8284559
450 T>I No ClinGen
ExAC
gnomAD
CA397651971
rs771452818
451 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs774727415
CA8284558
451 N>S No ClinGen
ExAC
gnomAD
rs1173707778
CA397651970
452 D>N No ClinGen
gnomAD
rs778439361
CA8284555
456 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs756743030
CA8284553
457 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748257674
CA8284552
457 R>H No ClinGen
ExAC
gnomAD
CA8284550
rs200119825
458 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs200119825
CA8284551
458 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA8284546
rs750272370
461 A>T No ClinGen
ExAC
gnomAD
CA8284545
rs765150202
461 A>V No ClinGen
ExAC
gnomAD
CA397651893
rs1273436641
464 V>A No ClinGen
gnomAD
CA286939383
rs541018167
464 V>M No ClinGen
1000Genomes
rs760333307
CA8284541
465 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8284542
rs760333307
465 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs775286957
CA8284540
466 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA397651866
rs1382687884
469 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8284537
rs376230487
469 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8284538
rs376230487
469 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781287655
CA8284534
472 T>M No ClinGen
ExAC
gnomAD
rs1366776360
CA397651839
474 V>L No ClinGen
TOPMed
gnomAD
CA397651833
rs1252032975
475 V>M No ClinGen
TOPMed
rs1164204703
CA397651825
476 D>G No ClinGen
gnomAD
rs1597612700
CA397651818
477 Y>S No ClinGen
Ensembl
rs1429591717
CA397651810
478 R>H No ClinGen
gnomAD
rs1186998958
CA397651806
479 G>S No ClinGen
TOPMed
gnomAD
rs747191483
CA8284532
480 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs747191483
CA8284533
480 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA397651794
rs1487328493
481 R>Q No ClinGen
gnomAD
rs868708851
CA286939320
481 R>W No ClinGen
Ensembl
rs1182801165
CA397651791
482 V>L No ClinGen
Ensembl
COSM1381927
rs950000630
CA286939304
COSM1381926
483 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1295297995
CA397651780
484 A>T No ClinGen
gnomAD
rs1371423708
CA397651762
486 S>C No ClinGen
gnomAD
rs778726369
CA8284528
489 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs938041772
CA286939266
490 G>S No ClinGen
TOPMed
gnomAD
rs760115603
CA8284524
493 E>D No ClinGen
ExAC
gnomAD
rs752313367
CA8284523
494 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1396045346
CA397651716
494 R>W No ClinGen
TOPMed
gnomAD
rs773692220
CA8284520
495 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs767276034
CA8284522
495 D>H No ClinGen
ExAC
gnomAD
rs767276034
CA397651712
495 D>N No ClinGen
ExAC
gnomAD
rs756886282
CA286939244
498 Q>H No ClinGen
Ensembl
CA397651676
rs1271914066
500 V>I No ClinGen
TOPMed
gnomAD
rs770080040
CA8284519
501 I>L No ClinGen
ExAC
gnomAD
rs770080040
CA397651670
501 I>V No ClinGen
ExAC
gnomAD
rs1230803765
CA397651653
503 G>D No ClinGen
gnomAD
rs926679907
CA286939233
504 S>F No ClinGen
Ensembl
CA397651644
rs1329507114
505 I>V No ClinGen
TOPMed
gnomAD
CA8284517
rs368267473
COSM50827
506 D>N breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8284515
rs541969235
508 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs541969235
CA397651623
508 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1174610097
CA397651607
510 T>I No ClinGen
gnomAD
CA397651598
rs1377488907
512 V>M No ClinGen
gnomAD
rs1182046214
CA397651590
513 S>A No ClinGen
gnomAD
CA8284512
rs746108210
514 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA286939155
rs778638092
515 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8284511
rs778638092
515 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA397651579
rs1248926263
515 P>S No ClinGen
gnomAD
rs753750953
CA397651572
516 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs753750953
CA8284509
516 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA286939151
rs376492921
517 Y>H No ClinGen
ESP
TOPMed
gnomAD
rs1292135683
CA397651554
519 E>A No ClinGen
TOPMed
CA397651555
rs1292135683
519 E>G No ClinGen
TOPMed
rs752225113
CA8284506
522 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8284504
rs201123979
523 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8284505
rs201123979
523 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs554152603
CA8284503
523 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA286939115
rs554152603
523 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762101736
CA8284501
525 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA397651517
rs769008971
526 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs769008971
CA8284499
526 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777116409
CA8284500
526 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1478877401
CA397651514
527 P>S No ClinGen
TOPMed
rs370078409
CA286939107
528 L>F No ClinGen
ESP
CA397651492
rs1409320679
530 I>S No ClinGen
TOPMed
gnomAD
CA8284497
rs775496210
COSM1381925
COSM1381924
532 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM976773
CA286939102
COSM976774
rs867623639
532 R>W Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA8284495
rs746021839
533 H>Q No ClinGen
ExAC
gnomAD
CA8284494
rs774449158
534 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA8284493
rs771177971
535 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs373340704
CA286939070
COSM705882
COSM705883
537 N>S lung [Cosmic] No ClinGen
cosmic curated
ESP
rs369972919
CA286939039
538 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369972919
CA8284490
538 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369972919
CA8284491
538 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397651443
rs1286076754
539 R>C No ClinGen
gnomAD
CA8284489
rs202134792
539 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397651435
rs780812466
540 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA286939012
rs926626019
540 D>G No ClinGen
gnomAD
rs754543242
CA286938993
541 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA8284487
rs754543242
541 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1386976308
CA397651405
545 L>V No ClinGen
gnomAD
CA397651396
rs1461681349
546 C>Y No ClinGen
gnomAD
rs1160976271
CA397651386
547 S>F No ClinGen
gnomAD
rs1472404251
CA397651380
548 S>L No ClinGen
gnomAD
TCGA novel 554 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397651335
rs1247228826
555 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA397651319
rs1452429106
557 N>S No ClinGen
gnomAD
CA8284481
rs761128099
559 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1298969080
CA397651299
560 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8284480
rs775978796
561 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1420895549
CA397651294
561 H>Y No ClinGen
Ensembl
rs773422187
CA8284478
563 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs773422187
CA8284477
563 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA397651271
rs1261079884
564 L>H No ClinGen
TOPMed
TCGA novel 565 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs61297645
CA286938919
566 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1404259227
CA397651259
566 L>Q No ClinGen
gnomAD
CA8284472
rs748034531
568 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1447635689
CA397651250
568 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755026813
CA8284470
569 T>I No ClinGen
ExAC
gnomAD
rs554613751
CA397651238
570 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs955581280
CA286938895
570 F>L No ClinGen
Ensembl
rs868053601
CA286938884
570 F>S No ClinGen
TOPMed
rs1052966322
CA286938883
571 P>L No ClinGen
TOPMed
CA8284467
rs757934910
572 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs374090140
CA8284466
COSM294490
572 P>L large_intestine Variant assessed as Somatic; 0.0001954 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA286938877
rs374090140
572 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1207897219
CA397651221
574 L>I No ClinGen
gnomAD
rs1220183073
CA397651189
578 P>L No ClinGen
gnomAD
rs1016602885
CA286938824
579 V>G No ClinGen
TOPMed
CA286938827
rs892760018
579 V>M No ClinGen
TOPMed
gnomAD
rs1350544748
CA397651182
580 P>S No ClinGen
gnomAD
CA8284459
rs766504135
581 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs763046951
CA8284458
582 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1176445681
CA397651169
582 E>V No ClinGen
gnomAD
CA397651161
rs1415946516
583 E>V No ClinGen
gnomAD
CA397651149
rs761691342
585 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8284455
rs761691342
585 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1252572644
CA397651151
585 P>S No ClinGen
gnomAD
CA397651148
rs1482323634
586 E>Q No ClinGen
TOPMed
gnomAD
TCGA novel 587 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314305468
CA397651129
588 C>Y No ClinGen
TOPMed
gnomAD
CA397651122
rs779387700
589 A>D No ClinGen
ExAC
gnomAD
rs746985052
CA8284452
589 A>S No ClinGen
ExAC
gnomAD
rs779387700
CA8284451
589 A>V No ClinGen
ExAC
gnomAD
rs771613561
CA8284450
590 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA397651120
rs771613561
590 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8284449
COSM976768
rs745452744
COSM976767
590 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771613561
CA286938734
590 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs756970668
CA8284447
591 A>G No ClinGen
ExAC
gnomAD
CA8284448
rs145919520
591 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781586263
CA8284445
592 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA286938674
rs1055596560
593 F>L No ClinGen
Ensembl
rs1412983936
CA397651105
593 F>Y No ClinGen
gnomAD
CA8284443
rs752140443
595 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8284442
rs368591249
595 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397651094
rs752140443
595 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1479897415
CA397651087
596 A>G No ClinGen
TOPMed
rs1182918433
CA397651090
596 A>T No ClinGen
gnomAD
CA286938660
rs868569504
597 H>N No ClinGen
TOPMed
rs1484538412
CA397651081
597 H>R No ClinGen
gnomAD
CA397651083
rs868569504
597 H>Y No ClinGen
TOPMed
CA8284439
rs762171639
598 R>P No ClinGen
ExAC
gnomAD
CA8284438
rs762171639
598 R>Q No ClinGen
ExAC
gnomAD
rs750528964
CA8284441
598 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs867137301
CA286938637
600 K>N No ClinGen
gnomAD
CA397651063
rs1269610872
600 K>R No ClinGen
gnomAD
rs1327829219
CA397651060
601 L>F No ClinGen
TOPMed
gnomAD
rs768600549
CA397651042
603 C>F No ClinGen
ExAC
gnomAD
rs768600549
CA8284436
603 C>Y No ClinGen
ExAC
gnomAD
rs1301977533
CA397651036
604 L>P No ClinGen
gnomAD
rs1301977533
CA397651035
604 L>Q No ClinGen
gnomAD
CA397651031
rs1390636043
605 R>H No ClinGen
gnomAD
rs771960366
CA8284433
606 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA8284432
rs745378304
609 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs561955561
CA286938606
611 A>G No ClinGen
1000Genomes
CA397650995
rs1426004980
611 A>T No ClinGen
gnomAD
CA397650981
rs1291521208
613 V>L No ClinGen
TOPMed
rs1219555130
CA397650972
614 E>G No ClinGen
gnomAD
CA397650961
rs1354838831
615 H>D No ClinGen
TOPMed
CA397650956
rs1219316685
615 H>R No ClinGen
TOPMed
CA397650944
rs1450472987
616 R>K No ClinGen
TOPMed
gnomAD
CA397650602
rs1302237075
616 R>S No ClinGen
gnomAD
CA397650600
rs1469226618
617 Y>H No ClinGen
TOPMed
gnomAD
CA397650594
rs1597609502
617 Y>S No ClinGen
Ensembl
rs759449418
CA8284415
618 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA397650572
rs773792167
619 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA8284414
rs773792167
619 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs376055316
CA8284412
621 M>T No ClinGen
ESP
ExAC
TOPMed
rs1461787302
CA397650504
624 A>T No ClinGen
gnomAD
CA8284409
rs747365123
625 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA397650481
rs1393769717
626 L>V No ClinGen
TOPMed
CA8284406
rs746386839
629 M>K No ClinGen
ExAC
gnomAD
CA8284405
rs779099805
630 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1385259512
CA397650424
630 Q>R No ClinGen
TOPMed
rs754022152
CA397650388
632 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs764348573
CA8284402
633 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs764348573
CA397650381
633 A>T No ClinGen
ExAC
TOPMed
gnomAD
RCV000832606
VAR_034008
rs11078312
CA8284401
633 A>V No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs767230061
CA8284398
638 T>N No ClinGen
ExAC
gnomAD
CA397650309
rs202041659
639 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397650304
rs1391365129
639 P>R No ClinGen
gnomAD
CA8284396
rs202041659
639 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769480484
CA8284392
641 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs769480484
CA397650279
641 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA397650275
rs1428180675
642 L>V No ClinGen
gnomAD
rs1207121685
CA397650246
644 N>I No ClinGen
TOPMed
rs1159519474
CA397650242
645 G>R No ClinGen
gnomAD
CA8284389
rs372787968
646 G>S No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA8284387
rs772357321
647 P>L No ClinGen
ExAC
gnomAD
CA397650230
rs1442952242
647 P>S No ClinGen
TOPMed
gnomAD
rs746331794
CA8284386
648 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8284384
rs757881135
651 E>* No ClinGen
ExAC
gnomAD
rs544624679
CA8284383
654 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs756302003
CA8284381
656 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs777773386
CA286936106
656 D>G No ClinGen
ExAC
gnomAD
CA397650152
rs1277908002
656 D>H No ClinGen
gnomAD
rs777773386
CA8284382
656 D>V No ClinGen
ExAC
gnomAD
rs767303195
CA8284379
657 P>L No ClinGen
ExAC
gnomAD
CA8284380
rs752867461
657 P>T No ClinGen
ExAC
gnomAD
CA397650104
rs1363810257
660 Q>L No ClinGen
TOPMed
rs754789299
CA8284378
662 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA397650068
rs1458531673
663 G>E No ClinGen
gnomAD
rs1597609117
CA397650047
664 S>R No ClinGen
Ensembl
rs1444109652
CA397650045
665 E>K No ClinGen
gnomAD
CA8284376
rs201247106
666 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1157511677
CA397650004
668 G>S No ClinGen
gnomAD
CA397649998
rs1597609089
668 G>V No ClinGen
Ensembl
CA397649995
rs1388536747
669 S>G No ClinGen
TOPMed
CA286936058
rs553038940
669 S>I No ClinGen
1000Genomes
gnomAD
TCGA novel 669 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284373
rs1378741848
671 A>T No ClinGen
TOPMed
gnomAD
rs1331712396
CA397649944
672 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA397649936
rs1567585541
673 G>A No ClinGen
Ensembl
CA397649939
rs749931959
673 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8284372
rs749931959
673 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1248458854
CA397649930
674 L>Q No ClinGen
gnomAD
CA397649909
rs1215976928
676 K>E No ClinGen
TOPMed
rs1215976928
CA397649911
676 K>Q No ClinGen
TOPMed
rs1009048443
CA397649905
676 K>R No ClinGen
TOPMed
gnomAD
CA286936032
rs1009048443
676 K>T No ClinGen
TOPMed
gnomAD
rs1597608985
CA397649887
677 V>G No ClinGen
Ensembl
CA8284371
rs371258450
677 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8284370
rs761490405
679 E>K No ClinGen
ExAC
gnomAD
rs1196945381
CA397649838
683 T>I No ClinGen
TOPMed
rs554951409
CA8284368
684 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA286936018
rs868410232
685 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8284365
rs771552882
686 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA397649824
rs1436775008
686 A>S No ClinGen
TOPMed
gnomAD
rs1436775008
CA397649826
686 A>T No ClinGen
TOPMed
gnomAD
rs748351806
CA8284361
689 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs748351806
CA8284362
689 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8284360
rs781246965
690 T>I No ClinGen
ExAC
gnomAD
CA397649797
rs781246965
690 T>R No ClinGen
ExAC
gnomAD
rs1597608457
CA397649774
691 D>A No ClinGen
Ensembl
CA8284359
rs755230147
691 D>Y No ClinGen
ExAC
gnomAD
rs753276441
CA8284334
692 P>L No ClinGen
ExAC
CA8284332
rs755760596
693 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs755760596
CA397649764
693 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8284333
rs763712121
693 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA397649753
rs752429645
695 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8284331
rs752429645
695 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200794784
CA286935799
695 R>W No ClinGen
gnomAD
rs371577642
CA397649751
696 E>K No ClinGen
ESP
ExAC
gnomAD
rs371577642
COSM1728539
CA8284330
COSM1728540
696 E>Q liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA397649744
rs1480150172
697 V>M No ClinGen
TOPMed
gnomAD
CA8284329
rs763203980
699 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs763203980
CA286935794
699 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1184946588
CA397649730
699 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1232626175
CA397649724
700 N>S No ClinGen
gnomAD
rs373602317
CA8284327
701 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs865802338
CA286935777
701 A>V No ClinGen
TOPMed
gnomAD
rs776630214
CA8284325
702 C>S No ClinGen
ExAC
gnomAD
CA397649712
rs1289705149
702 C>S No ClinGen
TOPMed
gnomAD
rs530686223
CA8284324
703 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs775671938
CA8284322
704 A>T No ClinGen
ExAC
gnomAD
CA8284321
rs182611545
704 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1228439531
CA397649693
705 V>G No ClinGen
TOPMed
rs745649184
CA8284320
705 V>I No ClinGen
ExAC
gnomAD
CA286935720
rs745874735
706 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA286935718
rs1036300624
710 S>G No ClinGen
Ensembl
rs1417782443
CA397649663
710 S>T No ClinGen
gnomAD
CA397649651
rs1183013515
712 A>T No ClinGen
gnomAD
CA8284315
rs191289430
712 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369055373
CA397649641
713 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767245609
CA8284313
714 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA397649626
rs1465092735
716 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA397649612
rs1213047620
718 N>H No ClinGen
gnomAD
rs1315869621
CA397649602
719 P>S No ClinGen
gnomAD
CA397649597
rs1290497059
720 D>H No ClinGen
gnomAD
CA286935700
rs1045743170
721 I>V No ClinGen
TOPMed
gnomAD
CA286935699
rs943716413
722 F>I No ClinGen
TOPMed
gnomAD
rs1314142869
CA397649572
723 S>L No ClinGen
gnomAD
CA286935694
rs770832952
724 P>L No ClinGen
TOPMed
gnomAD
CA8284312
rs754725515
724 P>S No ClinGen
ExAC
gnomAD
rs1198964783
CA397649548
726 V>F No ClinGen
TOPMed
rs1198964783
CA397649550
726 V>I No ClinGen
TOPMed
TCGA novel 726 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397649542
rs1378915025
727 R>C No ClinGen
TOPMed
CA397649541
rs1461116886
727 R>H No ClinGen
gnomAD
rs1178217326
CA397649525
729 P>L No ClinGen
gnomAD
CA397649528
rs1289583714
729 P>S No ClinGen
gnomAD
CA8284293
rs751224802
730 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA397649515
rs1171677359
731 S>A No ClinGen
TOPMed
CA397649508
rs1388886947
732 C>Y No ClinGen
TOPMed
CA286935532
rs866190364
733 Q>K No ClinGen
Ensembl
CA8284290
rs754245319
734 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA397649492
rs754245319
734 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs372428349
CA286935525
737 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372428349
CA8284288
737 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200722517
CA8284289
737 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758857015
CA8284287
738 D>N No ClinGen
ExAC
gnomAD
rs1338059161
CA397649431
744 K>E No ClinGen
gnomAD
rs944923887
CA397649418
745 D>E No ClinGen
TOPMed
gnomAD
CA397649415
rs550325305
746 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550325305
CA8284284
746 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA286935483
rs1032419736
746 A>V No ClinGen
TOPMed
gnomAD
rs866478571
CA397649411
747 A>P No ClinGen
TOPMed
gnomAD
CA286935471
rs866478571
747 A>S No ClinGen
TOPMed
gnomAD
CA8284282
rs762810140
748 A>G No ClinGen
ExAC
gnomAD
rs953092769
CA286935466
748 A>S No ClinGen
gnomAD
rs953092769
CA397649406
748 A>T No ClinGen
gnomAD
CA397649398
rs1361982638
749 F>C No ClinGen
gnomAD
CA397649395
rs1424141584
750 L>M No ClinGen
gnomAD
rs1244794141
CA397649388
751 L>F No ClinGen
gnomAD
CA397649389
rs1244794141
751 L>V No ClinGen
gnomAD
CA397649355
rs1205810529
756 P>T No ClinGen
gnomAD
rs1353006641
CA397649348
757 G>S No ClinGen
gnomAD
rs530626304
CA8284278
758 L>W No ClinGen
1000Genomes
ExAC
gnomAD
CA397649311
rs1260661075
761 D>H No ClinGen
TOPMed
CA8284264
rs773080711
761 D>V No ClinGen
ExAC
gnomAD
CA397649023
rs1490282163
762 C>* No ClinGen
gnomAD
CA8284262
rs780717065
763 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA8284261
rs776649428
763 M>R No ClinGen
ExAC
gnomAD
CA8284263
rs780717065
763 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1337049426
CA397649006
764 E>K No ClinGen
gnomAD
CA8284257
rs771657609
766 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs201703032
CA397648976
766 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1381915
rs201703032
CA8284259
COSM1381916
766 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771657609
CA8284258
766 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8284253
CA8284252
rs368772841
770 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368772841
CA8284254
770 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1167621804
CA397648919
772 G>R No ClinGen
gnomAD
CA8284250
rs751644085
774 T>A No ClinGen
ExAC
gnomAD
CA8284249
rs374759051
774 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374759051
CA8284248
774 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1271846459
CA397648839
779 M>I No ClinGen
gnomAD
CA8284245
rs776361105
780 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8284244
rs776361105
780 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 780 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372747520
CA8284243
780 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs894873703
CA286934783
781 Q>H No ClinGen
gnomAD
rs1280839980
CA397648831
781 Q>K No ClinGen
gnomAD
CA286934759
rs936484411
782 R>Q No ClinGen
TOPMed
gnomAD
rs367657982
CA286934769
782 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867349762
CA286934756
784 I>V No ClinGen
Ensembl
rs775001603
CA8284241
785 N>S No ClinGen
ExAC
gnomAD
rs1481387862
CA397648798
786 M>I No ClinGen
TOPMed
CA397648801
rs1334987551
786 M>T No ClinGen
gnomAD
rs1439743194
CA397648803
786 M>V No ClinGen
TOPMed
gnomAD
COSM3722264
COSM3722263
CA286934750
rs925101230
787 R>C upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1268969803
COSM1381913
CA397648793
COSM1381914
787 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs376068167
CA8284240
788 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200277514
CA8284239
789 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1383287324
CA397648769
791 K>R No ClinGen
TOPMed
CA8284238
rs773972027
792 V>L No ClinGen
ExAC
gnomAD
CA8284237
rs770611203
794 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1444094093
CA397648754
794 E>Q No ClinGen
TOPMed
CA8284234
rs369124420
CA8284235
796 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373453394
CA8284232
798 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376707057
CA8284233
798 R>W Variant assessed as Somatic; 9.331e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8284231
rs199770675
799 S>C No ClinGen
1000Genomes
ExAC
gnomAD
CA397648729
rs750577311
799 S>N No ClinGen
ExAC
gnomAD
CA8284230
rs750577311
799 S>T No ClinGen
ExAC
gnomAD
rs975239141
CA286934690
800 P>L No ClinGen
TOPMed
gnomAD
rs975239141
CA397648722
800 P>Q No ClinGen
TOPMed
gnomAD
CA397648719
rs562629566
801 A>S No ClinGen
TOPMed
gnomAD
CA286934689
rs562629566
801 A>T No ClinGen
TOPMed
gnomAD
CA8284227
rs544644539
801 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8284225
rs377116592
802 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8284226
rs377116592
802 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8284224
rs570575594
802 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397648712
rs886666146
803 H>D No ClinGen
TOPMed
gnomAD
CA286934678
rs886666146
803 H>Y No ClinGen
TOPMed
gnomAD
CA8284221
rs114233864
808 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8284220
rs770555752
809 F>S No ClinGen
ExAC
gnomAD
rs370270067
CA8284182
812 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764790223
CA8284181
812 G>V No ClinGen
ExAC
gnomAD
rs775933092
CA8284179
818 T>I No ClinGen
ExAC
gnomAD
rs760076057
CA8284177
819 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA286934538
rs764234556
820 S>A No ClinGen
TOPMed
CA8284176
rs774699615
820 S>L No ClinGen
ExAC
gnomAD
CA397648560
rs1167966578
824 I>T No ClinGen
gnomAD
rs769848334
COSM1381911
COSM1381912
CA8284172
827 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA286934513
rs1029911762
830 Q>E No ClinGen
TOPMed
gnomAD
rs912971502
CA286934374
831 G>A No ClinGen
TOPMed
gnomAD
CA397648500
rs912971502
831 G>E No ClinGen
TOPMed
gnomAD
rs763835128
CA8284142
831 G>R No ClinGen
ExAC
gnomAD
rs766769624
CA8284139
834 L>F No ClinGen
ExAC
gnomAD
rs750962337
CA8284137
835 S>T No ClinGen
ExAC
gnomAD
CA397648474
rs1445078084
836 G>S No ClinGen
TOPMed
gnomAD
CA397648460
rs1185700954
838 S>P No ClinGen
gnomAD
CA8284134
rs776754848
840 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA397648450
rs776754848
840 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA397648446
rs1245546154
840 A>V No ClinGen
TOPMed
rs768848817
CA8284133
841 I>V No ClinGen
ExAC
gnomAD
CA8284132
rs760959588
842 S>N No ClinGen
ExAC
gnomAD
rs745704208
CA8284129
848 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs748795142
CA397648295
850 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs771060137
CA8284127
850 S>R No ClinGen
ExAC
gnomAD
CA8284126
rs748795142
850 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA397648290
rs1297575586
851 S>T No ClinGen
gnomAD
rs755758534
CA8284124
853 P>A No ClinGen
ExAC
gnomAD
rs755758534
CA8284125
853 P>S No ClinGen
ExAC
gnomAD
rs1597604530
CA397648242
854 N>T No ClinGen
Ensembl
CA8284123
rs752424447
855 P>H No ClinGen
ExAC
gnomAD
CA397648215
rs758768004
856 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8284121
rs758768004
856 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1597604503
CA397648205
857 A>P No ClinGen
Ensembl
CA397648190
rs1416873505
858 H>D No ClinGen
TOPMed
rs1597604485
CA397648185
858 H>P No ClinGen
Ensembl
rs753855649
CA8284117
861 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs368569828
CA8284118
861 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1275421188
CA397648130
862 D>A No ClinGen
Ensembl
rs200041898
CA8284115
862 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8284114
rs775762493
863 E>K No ClinGen
ExAC
gnomAD
CA8284113
rs772226566
865 V>F No ClinGen
ExAC
gnomAD
CA8284112
rs759371068
866 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA397648031
rs1367163348
869 R>Q No ClinGen
gnomAD
CA8284110
rs749243306
870 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA8284108
rs777376163
871 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA397648002
rs777376163
871 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs769368085
CA8284107
873 R>K No ClinGen
ExAC
gnomAD
CA8284106
rs529511591
874 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA397647921
rs1193520130
876 R>Q No ClinGen
gnomAD
rs899724776
CA286934220
877 P>L No ClinGen
Ensembl
rs563650432
CA397647918
877 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8284105
rs563650432
877 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750782828
CA8284103
878 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA397647912
rs750782828
878 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA8284104
rs754649121
878 P>S No ClinGen
ExAC
gnomAD
CA397647898
rs1273231021
879 G>E No ClinGen
gnomAD
rs374633371
CA397647894
880 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8284100
rs374633371
880 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA286934197
rs941992091
881 A>T No ClinGen
TOPMed
rs764637954
CA8284099
881 A>V No ClinGen
ExAC
gnomAD
CA397647839
rs371894031
883 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8284097
rs572158133
885 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA397647797
rs1336174686
886 W>* No ClinGen
gnomAD
rs1435496571
CA397647808
886 W>R No ClinGen
gnomAD
TCGA novel 887 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1329769646
CA397647783
887 A>V No ClinGen
gnomAD
rs368364853
CA8284096
889 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868193862
CA286934187
890 T>A No ClinGen
Ensembl
rs1567582308
CA397647739
890 T>N No ClinGen
Ensembl
CA8284095
rs759692447
892 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 892 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8284094
COSM976753
COSM976752
rs774224207
894 L>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA397647636
rs766307177
896 K>N No ClinGen
ExAC
gnomAD
rs1233838379
CA397647597
898 I>M No ClinGen
gnomAD
CA286934159
rs1042776497
903 K>N No ClinGen
TOPMed
gnomAD
rs929376737
CA286934162
903 K>Q No ClinGen
Ensembl
CA286934158
rs947031516
904 N>I No ClinGen
TOPMed
gnomAD
rs1325154032
CA397647468
907 D>A No ClinGen
gnomAD
rs773260152
CA397647459
908 F>L No ClinGen
ExAC
gnomAD
rs1597604052
CA397647456
909 D>A No ClinGen
Ensembl
CA8284089
COSM1211989
rs374551796
COSM1211990
909 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8284090
rs374551796
909 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746666232
CA286934151
911 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs746666232
CA8284086
911 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 913 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397647283
rs78793700
915 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8284055
rs78793700
915 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780418387
CA8284054
916 D>E No ClinGen
ExAC
gnomAD
rs1477457329
CA397647234
918 A>V No ClinGen
TOPMed
gnomAD
rs1269263782
CA397647227
919 V>M No ClinGen
TOPMed
gnomAD
rs1192695259
CA397647203
920 E>D No ClinGen
TOPMed
gnomAD
rs758747236
CA8284053
921 T>I No ClinGen
ExAC
gnomAD
rs758747236
CA397647195
921 T>N No ClinGen
ExAC
gnomAD
rs1217272212
CA397647161
923 G>D No ClinGen
gnomAD
rs535658672
CA8284051
923 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs535658672
CA8284050
923 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1194930
rs972796697
COSM1194929
CA286933799
926 K>N lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1388853758
CA397647090
927 I>M No ClinGen
gnomAD
rs753699065
CA8284049
928 T>M No ClinGen
ExAC
gnomAD
rs1442525924
CA397647072
929 L>F No ClinGen
gnomAD
CA397647053
rs1464701652
930 L>P No ClinGen
gnomAD
rs764134004
CA8284048
931 R>L No ClinGen
ExAC
TOPMed
rs764134004
CA397647046
931 R>Q No ClinGen
ExAC
TOPMed
rs1429903193
COSM178387
CA397647049
931 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1431211551
CA397647025
932 E>D No ClinGen
gnomAD
rs181923267
CA286933782
933 I>M No ClinGen
1000Genomes
TOPMed
gnomAD
CA397647011
rs1266437901
933 I>S No ClinGen
gnomAD
rs771659481
CA8284045
934 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8284046
rs775039790
934 S>T No ClinGen
ExAC
gnomAD
rs1317412952
CA397646994
935 L>M No ClinGen
gnomAD
CA8284043
rs773589149
938 G>V No ClinGen
ExAC
rs1257073865
CA397646330
940 Q>K No ClinGen
gnomAD
rs1597602158
CA397646296
941 V>G No ClinGen
Ensembl
rs546151475
CA8284005
941 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs772298918
CA8284002
944 K>R No ClinGen
ExAC
gnomAD
CA397646247
rs374987812
948 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779000573
CA8284000
951 R>C No ClinGen
ExAC
gnomAD
CA397646228
rs1425120685
951 R>H No ClinGen
TOPMed
gnomAD
CA397646204
rs1456443570
954 P>R No ClinGen
gnomAD
rs375997366
CA286933373
955 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
COSM976747
CA8283996
rs756008773
COSM976746
955 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs918414187
CA286933358
958 E>K No ClinGen
gnomAD
rs1266786328
CA397646172
959 E>D No ClinGen
TOPMed
CA397646160
rs1258180929
961 V>G No ClinGen
gnomAD
CA8283991
rs200623081
961 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397646155
rs1220338637
962 L>F No ClinGen
gnomAD
CA397646121
COSM976743
rs1332669209
COSM976744
967 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1334650747
CA397646091
971 V>A No ClinGen
Ensembl
CA8283985
rs772775426
971 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA286933304
rs1034691708
973 P>A No ClinGen
Ensembl
CA286933302
rs1002172333
974 K>N No ClinGen
TOPMed
CA397646064
rs1366869677
975 A>V No ClinGen
TOPMed
CA397646058
rs1171501346
976 S>L No ClinGen
TOPMed
gnomAD
CA8283983
rs774504607
979 F>L No ClinGen
ExAC
gnomAD
CA8283982
rs770995955
980 H>L No ClinGen
ExAC
rs770995955
CA286933295
980 H>R No ClinGen
ExAC
rs1478530025
CA397646005
984 S>G No ClinGen
gnomAD
rs574404930
CA8283980
984 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8283978
rs369927961
987 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 988 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8283977
rs554292311
989 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA8283976
rs754996649
991 Q>H No ClinGen
ExAC
gnomAD
rs897288009
CA286933281
992 G>C No ClinGen
TOPMed
gnomAD
rs746999026
CA8283957
992 G>D No ClinGen
ExAC
gnomAD
rs897288009
CA397645951
992 G>R No ClinGen
TOPMed
gnomAD
rs1342153114
COSM3362037
CA397645919
COSM3362036
995 K>R kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
CA397645913
rs1374714629
996 E>* No ClinGen
gnomAD
CA397645902
rs1216497584
997 G>V No ClinGen
TOPMed
rs779381488
CA8283956
998 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1324122612
CA397645898
998 C>Y No ClinGen
TOPMed
CA397645889
rs1213992537
999 E>V No ClinGen
gnomAD
CA286933190
rs924462582
1000 L>I No ClinGen
TOPMed
rs74532258
CA397645870
1002 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8283954
rs74532258
1002 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1332845950
CA397645865
1003 E>K No ClinGen
gnomAD
CA8283953
rs778697125
1005 L>V No ClinGen
ExAC
gnomAD
rs537415953
CA286933163
1006 N>K No ClinGen
gnomAD
rs759915226
CA8283949
1011 V>I No ClinGen
ExAC
gnomAD
TCGA novel 1012 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597601510
CA397645805
1012 Y>S No ClinGen
Ensembl
rs1435468179
CA397645789
1014 A>V No ClinGen
TOPMed
CA397645782
rs1488458293
1015 M>I No ClinGen
gnomAD
rs909528833
CA286933132
1015 M>T No ClinGen
Ensembl
rs1174566306
CA397645788
1015 M>V No ClinGen
TOPMed
rs769942085
CA8283944
1017 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs769942085
CA397645772
1017 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8283943
rs376805113
1018 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397645762
rs1362018621
1018 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs776249753
CA8283942
1019 T>N No ClinGen
ExAC
gnomAD
CA397645760
rs1597601457
1019 T>P No ClinGen
Ensembl
rs746827905
CA8283940
1021 A>T No ClinGen
ExAC
gnomAD
CA8283938
rs771962673
1024 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs745317633
CA8283937
1024 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8283936
rs778570568
1025 L>V No ClinGen
ExAC
gnomAD
CA286933103
rs570125559
1026 L>V No ClinGen
Ensembl
CA397645692
rs1418092369
1027 A>T No ClinGen
gnomAD
rs571139579
COSM1197198
COSM1197197
CA8283932
1028 R>C lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs777344374
CA8283931
1028 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs571139579
COSM4129749
CA397645663
COSM4129750
1028 R>S thyroid [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA397645614
rs1187092215
1030 H>R No ClinGen
gnomAD
rs1279705489
CA397645536
1032 I>M No ClinGen
Ensembl
TCGA novel 1034 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397645506
rs1288460123
1034 G>S No ClinGen
TOPMed
CA397645474
rs1270137266
1035 D>G No ClinGen
TOPMed
CA8283926
rs750431695
1035 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8283924
rs761973954
1036 Y>C No ClinGen
ExAC
gnomAD
CA8283925
rs765327971
1036 Y>D No ClinGen
ExAC
gnomAD
rs368663085
CA8283922
1037 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779386864
CA8283890
1039 A>S No ClinGen
ExAC
gnomAD
rs779386864
CA397645315
1039 A>T No ClinGen
ExAC
gnomAD
rs764112822
CA8283888
1041 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA8283887
rs764112822
1041 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs200565690
CA8283886
1043 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1190446035
CA397645280
1044 Q>R No ClinGen
TOPMed
rs367587105
CA8283885
1046 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759405260
CA397645263
1047 V>L No ClinGen
ExAC
gnomAD
rs759405260
CA8283883
1047 V>M No ClinGen
ExAC
gnomAD
CA397645248
rs1373395262
1049 M>I No ClinGen
TOPMed
rs1354536153
CA397645252
1049 M>L No ClinGen
TOPMed
gnomAD
CA397645237
rs1421332984
1051 E>Q No ClinGen
gnomAD
rs762802291
CA8283880
1052 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1157108519
CA397645210
1055 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8283879
rs772733408
1056 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1369132067
CA397645183
1059 P>T No ClinGen
gnomAD
rs761434867
CA8283877
1060 N>S No ClinGen
ExAC
gnomAD
rs761434867
CA397645174
1060 N>T No ClinGen
ExAC
gnomAD
rs1257491876
CA397645158
1062 I>M No ClinGen
gnomAD
CA397645157
rs1194799379
1063 Q>E No ClinGen
gnomAD
rs1049689788
CA286929143
1064 E>A No ClinGen
TOPMed
rs768361755
CA8283875
1065 Y>F No ClinGen
ExAC
TOPMed
rs1332547672
CA397645117
1066 M>I No ClinGen
gnomAD
rs750299603
CA8283844
1072 C>Y No ClinGen
ExAC
gnomAD
rs1264664929
CA397645067
1074 A>S No ClinGen
Ensembl
rs1453199457
CA397645060
1075 S>N No ClinGen
gnomAD
CA286928928
rs879131326
1076 S>G No ClinGen
Ensembl
rs761751463
CA8283842
1077 Q>E No ClinGen
ExAC
gnomAD
CA397645048
rs761751463
1077 Q>K No ClinGen
ExAC
gnomAD
rs753306124
CA8283841
1078 L>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1078 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775094871
CA8283839
1079 S>F No ClinGen
ExAC
gnomAD
CA8283840
rs763617381
1079 S>P No ClinGen
ExAC
gnomAD
rs775094871
CA8283838
1079 S>Y No ClinGen
ExAC
gnomAD
rs1232370983
CA397645033
1080 T>A No ClinGen
gnomAD
CA397645031
rs1370284805
1080 T>S No ClinGen
gnomAD
rs372755886
COSM1381894
COSM1381895
CA8283836
1081 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8283834
rs748692718
1084 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs995435238
CA397644995
1086 Y>* No ClinGen
Ensembl
CA397645000
rs1193986740
1086 Y>H No ClinGen
gnomAD
rs1380581805
CA397644990
1087 R>H No ClinGen
TOPMed
gnomAD
COSM1520363
CA8283830
rs747122833
COSM1520362
1088 A>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA286928892
rs747122833
1088 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA397644984
rs1468213638
1088 A>V No ClinGen
TOPMed
gnomAD
rs758702771
CA8283828
1089 R>G No ClinGen
ExAC
gnomAD
rs778772369
CA8283826
1092 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs778772369
CA397644964
1092 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs757138423
CA8283825
1093 L>V No ClinGen
ExAC
gnomAD
rs753753555
CA8283824
1094 L>V No ClinGen
ExAC
gnomAD
rs764060900
CA8283823
1096 F>L No ClinGen
ExAC
gnomAD
CA397644935
rs1357703729
1097 G>R No ClinGen
gnomAD
CA8283821
rs752312296
1098 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs767021925
CA8283820
1099 D>G No ClinGen
ExAC
gnomAD
rs1480959760
CA397644920
1099 D>Y No ClinGen
gnomAD
CA8283819
rs759235994
1102 E>A No ClinGen
ExAC
gnomAD
rs948916591
CA286928817
1102 E>K No ClinGen
gnomAD
rs773412751
CA8283818
1103 M>V No ClinGen
ExAC
gnomAD
CA397644884
rs1163727193
1104 A>V No ClinGen
gnomAD
rs762314998 1107 D>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
COSM302475
CA397644828
rs1442398511
1111 G>R Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA397644817
rs1452786743
1113 V>M No ClinGen
TOPMed
CA397644801
rs1356259388
1115 H>L No ClinGen
gnomAD
rs1409156052
CA397644793
1116 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1168022275
CA397644790
1117 V>L No ClinGen
gnomAD
rs1194517607
CA397644692
1121 D>H No ClinGen
TOPMed
gnomAD
rs1194517607
CA397644694
1121 D>N No ClinGen
TOPMed
gnomAD
rs777551831
CA8283783
1121 D>V No ClinGen
ExAC
gnomAD
rs1194517607
CA397644689
1121 D>Y No ClinGen
TOPMed
gnomAD
rs1241641121
CA397644632
1125 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1253634243
CA397644640
1125 R>S No ClinGen
gnomAD
CA397644593
rs1278809128
1128 E>Q No ClinGen
gnomAD
TCGA novel 1130 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397644562
rs1368091556
1130 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs961961374
CA397644560
1131 L>V No ClinGen
TOPMed
gnomAD
CA8283779
rs374574637
1132 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs61750787
CA8283778
1132 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764583337
CA8283774
1136 K>N No ClinGen
ExAC
gnomAD
CA8283773
rs760995859
1137 Y>C No ClinGen
ExAC
gnomAD
rs760995859
CA286928612
1137 Y>S No ClinGen
ExAC
gnomAD
rs767977011
CA8283771
1138 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs932284495
CA286928608
1138 H>R No ClinGen
TOPMed
gnomAD
rs1480490131
CA397644489
1139 G>E No ClinGen
gnomAD
CA8283770
rs759649141
1139 G>R No ClinGen
ExAC
gnomAD
rs1213527968
CA397644458
1141 K>R No ClinGen
gnomAD
TCGA novel 1142 A>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397644427
rs1214452958
1143 L>P No ClinGen
TOPMed
rs1345255708
CA397644422
1144 K>Q No ClinGen
gnomAD
CA8283768
rs771077108
1144 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA397644373
rs1198354859
1147 L>F No ClinGen
TOPMed
CA286928577
rs867497496
1148 S>G No ClinGen
TOPMed
gnomAD
CA397644246
rs771677618
1150 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745438399
CA397644244
1151 L>F No ClinGen
ExAC
gnomAD
rs745438399
CA8283740
1151 L>V No ClinGen
ExAC
gnomAD
rs1476631310
CA397644239
1152 V>I No ClinGen
TOPMed
gnomAD
CA397644229
rs1282446079
1153 A>V No ClinGen
TOPMed
gnomAD
CA397644228
rs1395297207
1154 R>G No ClinGen
TOPMed
rs1567576515
CA397644225
1154 R>Q No ClinGen
Ensembl
rs1191262302
CA397644212
CA397644211
1156 Y>* No ClinGen
TOPMed
gnomAD
CA397644214
rs1597596511
1156 Y>C No ClinGen
Ensembl
CA8283737
rs748480811
1156 Y>H No ClinGen
ExAC
gnomAD
CA8283736
rs781443977
1157 E>A No ClinGen
ExAC
gnomAD
CA397644209
rs1467952483
1157 E>Q No ClinGen
gnomAD
CA397644190
rs1197325911
1159 K>I No ClinGen
gnomAD
rs752043044
CA8283733
1160 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs1367372865
CA397644187
1160 A>T No ClinGen
TOPMed
rs752043044
CA397644183
1160 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1315727526
CA397644182
1161 E>Q No ClinGen
TOPMed
CA8283731
rs758465453
1163 R>W No ClinGen
ExAC
gnomAD
rs765438903
CA397644158
1164 S>L No ClinGen
ExAC
gnomAD
CA8283729
rs765438903
1164 S>W No ClinGen
ExAC
gnomAD
rs1331028738
CA397644152
1165 A>V No ClinGen
gnomAD
CA8283728
rs761944297
1166 L>P No ClinGen
ExAC
gnomAD
TCGA novel 1167 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266951736
CA397644136
1168 H>P No ClinGen
TOPMed
rs763817167
CA8283726
CA397644133
1168 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA397644131
rs1394786708
1169 E>Q No ClinGen
TOPMed
gnomAD
rs1434926907
CA397644119
1170 K>R No ClinGen
TOPMed
gnomAD
CA397644106
rs1567576329
1172 G>D No ClinGen
Ensembl
rs760595481
CA8283725
1172 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA286928270
rs867860726
1176 Y>C No ClinGen
TOPMed
gnomAD
rs745317446
CA8283722
1178 T>S No ClinGen
ExAC
gnomAD
CA397644058
rs1211389990
1179 Q>R No ClinGen
gnomAD
CA397644042
rs1345467402
1180 L>V No ClinGen
gnomAD
rs1227693139
CA397644034
1181 G>D No ClinGen
TOPMed
gnomAD
CA397644025
rs1387797753
1182 E>D No ClinGen
TOPMed
gnomAD
CA397644031
rs1398515136
1182 E>K No ClinGen
TOPMed
gnomAD
CA397644030
rs1398515136
1182 E>Q No ClinGen
TOPMed
gnomAD
CA8283570
rs751425362
1183 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA397644022
rs201361018
1183 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA286927600
rs918014599
1184 H>Y No ClinGen
TOPMed
gnomAD
CA286927549
rs940529549
CA397643996
1186 K>N No ClinGen
TOPMed
gnomAD
CA397643998
rs1210848161
1186 K>R No ClinGen
TOPMed
CA286927542
rs907749640
1188 K>E No ClinGen
TOPMed
rs1242981726
CA397643984
1188 K>N No ClinGen
gnomAD
CA397643981
rs1218024323
1189 E>K No ClinGen
gnomAD
rs772788453
CA8283567
1190 S>G No ClinGen
ExAC
gnomAD
rs1337349944
CA397643956
1192 E>D No ClinGen
gnomAD
CA397643961
rs769367557
1192 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8283566
rs769367557
1192 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA397643928
rs775782224
1196 C>F No ClinGen
ExAC
gnomAD
rs775782224
CA397643929
1196 C>S No ClinGen
ExAC
gnomAD
rs775782224
CA8283564
1196 C>Y No ClinGen
ExAC
gnomAD
rs970707683
CA286927520
1199 Q>* No ClinGen
Ensembl
CA397643908
rs1271626059
1199 Q>H No ClinGen
gnomAD
rs1427968557
CA397643897
1201 A>S No ClinGen
gnomAD
rs1363834902
CA397643894
1201 A>V No ClinGen
gnomAD
rs774707686
CA8283561
1202 V>M No ClinGen
ExAC
gnomAD
CA397643888
rs1392253691
1203 A>T No ClinGen
gnomAD
CA397643858
rs1420423162
1207 T>N No ClinGen
gnomAD
CA397643854
rs1247520080
1208 M>T No ClinGen
gnomAD
CA8283560
rs771482929
1208 M>V No ClinGen
ExAC
gnomAD
CA397643848
rs1194404298
1209 N>D No ClinGen
gnomAD
CA397643846
rs1470194636
1209 N>I No ClinGen
gnomAD
rs749262253
CA8283559
1209 N>K No ClinGen
ExAC
gnomAD
rs778032717
COSM1741998
CA8283558
COSM1741999
1211 I>M urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs958755579
CA286927493
1213 R>C No ClinGen
TOPMed
gnomAD
CA397643818
rs979281262
1213 R>H No ClinGen
TOPMed
gnomAD
CA286927489
rs979281262
1213 R>L No ClinGen
TOPMed
gnomAD
rs1363764552
CA397643815
1214 N>D No ClinGen
gnomAD
rs553096601
CA8283557
1214 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA286927463
rs966636440
1215 G>D No ClinGen
TOPMed
rs781609599
CA8283555
1215 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA397643801
rs1442583806
1216 S>C No ClinGen
gnomAD
rs1442583806
CA397643802
1216 S>Y No ClinGen
gnomAD
CA8283553
rs751424895
1217 S>R No ClinGen
ExAC
gnomAD
CA8283552
rs766167419
1218 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs766167419
CA286927441
1218 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA286927429
rs372964732
1218 A>V No ClinGen
ESP
TOPMed
gnomAD
CA286927394
rs903344334
1219 N>H No ClinGen
Ensembl
CA286927390
rs1020492382
1220 I>V No ClinGen
Ensembl
rs1253217083
CA397643766
1222 P>L No ClinGen
TOPMed
CA8283549
rs370083702
1222 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8283548
rs761360860
1223 L>F No ClinGen
ExAC
gnomAD
CA397643761
rs1484318439
1223 L>R No ClinGen
TOPMed
CA8283547
rs776234896
1224 K>R No ClinGen
ExAC
gnomAD
rs1419064527
CA397643740
1225 F>L No ClinGen
gnomAD
CA286927197
rs886695032
1225 F>L No ClinGen
TOPMed
CA8283502
rs767138415
1226 T>K No ClinGen
ExAC
gnomAD
rs767138415
CA8283503
1226 T>M No ClinGen
ExAC
gnomAD
rs1255129687
CA397643730
1227 A>T No ClinGen
gnomAD
rs776806820
CA8283498
1228 P>S No ClinGen
ExAC
gnomAD
CA8283497
rs776806820
1228 P>T No ClinGen
ExAC
gnomAD
CA397643716
rs768761272
1229 S>I No ClinGen
ExAC
gnomAD
CA8283496
rs768761272
1229 S>T No ClinGen
ExAC
gnomAD
CA8283495
rs536918371
1230 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548922441
CA397643705
1231 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548922441
CA8283494
1231 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397643697
rs1312298241
1232 S>N No ClinGen
gnomAD
rs1338922200
CA397643700
1232 S>R No ClinGen
gnomAD
rs1382785933
CA397643694
1232 S>R No ClinGen
gnomAD
TCGA novel 1234 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8283492
rs745595525
1235 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs770805106
CA8283491
1236 Q>H No ClinGen
ExAC
gnomAD
CA286927155
COSM178385
rs958704192
1239 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA8283487
rs778345831
1240 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs778345831
CA8283488
1240 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1174402035
CA397643630
1242 G>D No ClinGen
TOPMed
CA8283484
rs754686354
1244 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA397643606
rs1597593197
1246 I>F No ClinGen
Ensembl
rs1597593197
CA397643608
1246 I>L No ClinGen
Ensembl
CA286927126
rs925387768
1246 I>T No ClinGen
TOPMed
gnomAD
CA397643598
rs1187440059
1247 P>L No ClinGen
TOPMed
gnomAD
rs765721468
CA8283482
1248 L>F No ClinGen
ExAC
gnomAD
rs765721468
CA397643595
1248 L>V No ClinGen
ExAC
gnomAD
CA397643586
rs1275045261
1249 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA397643566
rs1486492354
1250 Q>R No ClinGen
TOPMed
CA8283441
rs749600265
1252 D>G No ClinGen
ExAC
gnomAD
TCGA novel 1252 D>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1252 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8283439
rs549649510
1253 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1241194041
CA397643532
1255 N>T No ClinGen
gnomAD
CA397643525
rs1230558068
1256 L>P No ClinGen
gnomAD
rs753112710
CA8283438
1257 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1287267400
CA397643510
1258 A>V No ClinGen
gnomAD
rs755035595
CA8283436
1259 E>G No ClinGen
ExAC
gnomAD
CA8283437
rs768077476
1259 E>K No ClinGen
ExAC
gnomAD
rs915508654
CA286926134
1260 V>M No ClinGen
TOPMed
rs766517607
CA8283433
1261 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA397643492
rs1470713258
1262 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA286926131
rs1039086991
1262 R>W No ClinGen
TOPMed
CA397643471
rs764923110
CA8283430
1265 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA8283431
rs750187614
1265 Q>R No ClinGen
ExAC
gnomAD
rs1358307209
CA397643469
1266 L>V No ClinGen
TOPMed
rs761710871
CA8283429
1268 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA397643447
rs1239497692
1269 A>S No ClinGen
gnomAD
rs1239497692
CA397643449
1269 A>T No ClinGen
gnomAD
rs776708713
CA8283428
1269 A>V No ClinGen
ExAC
gnomAD
rs768772679
CA8283427
1270 S>G No ClinGen
ExAC
gnomAD
rs760207056
CA8283426
1270 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs760207056
CA286926096
1270 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1211149578
CA397643437
1271 R>K No ClinGen
gnomAD
rs771715913
CA8283425
1273 R>G No ClinGen
ExAC
gnomAD
rs771715913
CA8283424
1273 R>W No ClinGen
ExAC
gnomAD
CA397643416
rs1283935673
1274 D>G No ClinGen
TOPMed
CA8283422
rs745486555
1276 A>V No ClinGen
ExAC
gnomAD
CA8283418
rs531117604
1279 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA8283419
rs531117604
1279 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA397643381
rs1326532852
1279 P>S No ClinGen
gnomAD
rs751594901
CA8283416
1280 M>T No ClinGen
ExAC
gnomAD
rs929544170
CA286926058
1281 A>G No ClinGen
TOPMed
gnomAD
CA286926054
rs929544170
1281 A>V No ClinGen
TOPMed
gnomAD
CA8283415
rs780134393
1282 T>I No ClinGen
ExAC
gnomAD
rs765565801
CA8283412
1283 E>K No ClinGen
ExAC
gnomAD
rs753701529
CA8283410
1284 P>S No ClinGen
ExAC
gnomAD
rs760726368
CA8283408
1285 A>T No ClinGen
ExAC
gnomAD
rs775616460
CA8283407
1285 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771451632
CA8283406
1286 P>L No ClinGen
ExAC
gnomAD
CA8283405
rs528743275
1287 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8283404
rs528743275
1287 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3819072
CA397643338
rs1287260628
COSM3819071
1287 A>V Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA286926012
rs1005396936
1288 G>E No ClinGen
TOPMed
gnomAD
CA397643331
rs1432341490
1289 A>G No ClinGen
gnomAD
rs959037279
CA286926006
1289 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs959037279
CA286926010
1289 A>T No ClinGen
TOPMed
gnomAD
CA397643323
rs1161019212
1290 P>L No ClinGen
TOPMed
rs1326512987
CA397643328
1290 P>T No ClinGen
gnomAD
CA8283400
rs559628095
1291 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8283401
rs559628095
1291 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs529291178
CA8283398
1292 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA286925979
rs952500727
1293 L>M No ClinGen
TOPMed
rs1403150077
CA397643310
1293 L>P No ClinGen
TOPMed
rs1391092753
CA397643307
1294 G>S No ClinGen
gnomAD
CA397643302
rs1170554071
1294 G>V No ClinGen
TOPMed
gnomAD
CA397643296
rs1447749888
1295 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA397643286
rs750576929
1297 P>A No ClinGen
ExAC
gnomAD
CA397643284
rs1025464727
1297 P>L No ClinGen
TOPMed
gnomAD
rs1025464727
CA286925976
1297 P>R No ClinGen
TOPMed
gnomAD
rs750576929
CA8283396
1297 P>S No ClinGen
ExAC
gnomAD
CA8283393
rs753646363
1299 A>D No ClinGen
ExAC
gnomAD
CA397643275
rs1221343818
1299 A>S No ClinGen
gnomAD
CA397643268
rs1288477703
1300 A>D No ClinGen
TOPMed
gnomAD
rs1490708180
CA397643261
1301 K>M No ClinGen
TOPMed
CA397643257
rs1225470795
1302 D>H No ClinGen
gnomAD
CA8283388
rs767546776
1303 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs752675058
CA397643249
1303 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8283389
rs752675058
1303 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA8283387
rs370836405
1305 P>S No ClinGen
ESP
ExAC
gnomAD
CA397643234
rs1442733255
1306 S>G No ClinGen
gnomAD
CA8283384
rs772903126
1307 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8283383
rs772903126
1307 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8283381
rs200380079
1308 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1333465026
CA397643212
1309 G>E No ClinGen
Ensembl

No associated diseases with O75153

3 regional properties for O75153

Type Name Position InterPro Accession
domain CLU domain 335 - 577 IPR025697
domain Clustered mitochondria protein, N-terminal 66 - 139 IPR028275
domain CLU central domain 767 - 948 IPR033646

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasmic granule
  • A fraction colocalizes with tyrosinated tubulin and can be detected close to mitochondria
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.

2 GO annotations of biological process

Name Definition
intracellular distribution of mitochondria Any process that establishes the spatial arrangement of mitochondria within the cell.
mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MLLNGDCPES LKKEAAAAEP PRENGLDEAG PGDETTGQEV IVIQDTGFSV KILAPGIEPF
70 80 90 100 110 120
SLQVSPQEMV QEIHQVLMDR EDTCHRTCFS LHLDGNVLDH FSELRSVEGL QEGSVLRVVE
130 140 150 160 170 180
EPYTVREARI HVRHVRDLLK SLDPSDAFNG VDCNSLSFLS VFTDGDLGDS GKRKKGLEMD
190 200 210 220 230 240
PIDCTPPEYI LPGSRERPLC PLQPQNRDWK PLQCLKVLTM SGWNPPPGNR KMHGDLMYLF
250 260 270 280 290 300
VITAEDRQVS ITASTRGFYL NQSTAYHFNP KPASPRFLSH SLVELLNQIS PTFKKNFAVL
310 320 330 340 350 360
QKKRVQRHPF ERIATPFQVY SWTAPQAEHA MDCVRAEDAY TSRLGYEEHI PGQTRDWNEE
370 380 390 400 410 420
LQTTRELPRK NLPERLLRER AIFKVHSDFT AAATRGAMAV IDGNVMAINP SEETKMQMFI
430 440 450 460 470 480
WNNIFFSLGF DVRDHYKDFG GDVAAYVAPT NDLNGVRTYN AVDVEGLYTL GTVVVDYRGY
490 500 510 520 530 540
RVTAQSIIPG ILERDQEQSV IYGSIDFGKT VVSHPRYLEL LERTSRPLKI LRHQVLNDRD
550 560 570 580 590 600
EEVELCSSVE CKGIIGNDGR HYILDLLRTF PPDLNFLPVP GEELPEECAR AGFPRAHRHK
610 620 630 640 650 660
LCCLRQELVD AFVEHRYLLF MKLAALQLMQ QNASQLETPS SLENGGPSSL ESKSEDPPGQ
670 680 690 700 710 720
EAGSEEEGSS ASGLAKVKEL AETIAADDGT DPRSREVIRN ACKAVGSISS TAFDIRFNPD
730 740 750 760 770 780
IFSPGVRFPE SCQDEVRDQK QLLKDAAAFL LSCQIPGLVK DCMEHAVLPV DGATLAEVMR
790 800 810 820 830 840
QRGINMRYLG KVLELVLRSP ARHQLDHVFK IGIGELITRS AKHIFKTYLQ GVELSGLSAA
850 860 870 880 890 900
ISHFLNCFLS SYPNPVAHLP ADELVSKKRN KRRKNRPPGA ADNTAWAVMT PQELWKNICQ
910 920 930 940 950 960
EAKNYFDFDL ECETVDQAVE TYGLQKITLL REISLKTGIQ VLLKEYSFDS RHKPAFTEED
970 980 990 1000 1010 1020
VLNIFPVVKH VNPKASDAFH FFQSGQAKVQ QGFLKEGCEL INEALNLFNN VYGAMHVETC
1030 1040 1050 1060 1070 1080
ACLRLLARLH YIMGDYAEAL SNQQKAVLMS ERVMGTEHPN TIQEYMHLAL YCFASSQLST
1090 1100 1110 1120 1130 1140
ALSLLYRARY LMLLVFGEDH PEMALLDNNI GLVLHGVMEY DLSLRFLENA LAVSTKYHGP
1150 1160 1170 1180 1190 1200
KALKVALSHH LVARVYESKA EFRSALQHEK EGYTIYKTQL GEDHEKTKES SEYLKCLTQQ
1210 1220 1230 1240 1250 1260
AVALQRTMNE IYRNGSSANI PPLKFTAPSM ASVLEQLNVI NGILFIPLSQ KDLENLKAEV
1270 1280 1290 1300
ARRHQLQEAS RNRDRAEEPM ATEPAPAGAP GDLGSQPPAA KDPSPSVQG