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 Q8N436

Entry ID Method Resolution Chain Position Source
AF-Q8N436-F1 Predicted AlphaFoldDB

745 variants for Q8N436

Variant ID(s) Position Change Description Diseaes Association Provenance
rs869025241
RCV000207192
CA351544
166 G>E Variant assessed as Somatic; impact. Ductal breast carcinoma [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA378898287
rs1231688335
3 R>L No ClinGen
TOPMed
rs1427529014
CA378898281
4 P>L No ClinGen
gnomAD
CA378898282
rs1427529014
4 P>R No ClinGen
gnomAD
CA378898276
rs1012503053
5 G>E No ClinGen
TOPMed
gnomAD
rs1012503053
CA215572457
5 G>V No ClinGen
TOPMed
gnomAD
CA378898275
rs1478230543
6 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1369386652
CA378898270
6 T>I No ClinGen
TOPMed
gnomAD
rs959209257
CA215572456
7 A>T No ClinGen
TOPMed
gnomAD
CA5732666
rs112027854
COSM1560901
9 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1192063574
CA378898251
10 A>S No ClinGen
TOPMed
CA378898248
rs1325405878
10 A>V No ClinGen
TOPMed
gnomAD
CA378898244
rs1260961224
11 L>P No ClinGen
gnomAD
rs201350090
CA5732665
12 A>D No ClinGen
ExAC
gnomAD
CA378898216
rs1379993891
16 L>P No ClinGen
gnomAD
rs1361946520
CA378898214
17 A>P No ClinGen
gnomAD
rs1046113962
CA215572453
17 A>V No ClinGen
TOPMed
CA378898187
rs1590107082
22 G>W No ClinGen
Ensembl
rs112646528
CA378898181
23 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5732664
rs112646528
23 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1010235381
CA215572452
24 G>R No ClinGen
TOPMed
gnomAD
CA378898149
rs1466360909
28 A>S No ClinGen
TOPMed
gnomAD
CA378898151
rs1466360909
28 A>T No ClinGen
TOPMed
gnomAD
CA378898138
rs1168480109
30 L>V No ClinGen
gnomAD
CA378898122
rs766664971
32 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA5732662
rs553797182
32 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA5732663
rs766664971
32 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1427993831
CA378898123
32 D>Y No ClinGen
gnomAD
rs894811159
CA215572451
33 P>L No ClinGen
TOPMed
gnomAD
rs894811159
CA378898115
33 P>R No ClinGen
TOPMed
gnomAD
CA378898119
rs1462546568
33 P>S No ClinGen
gnomAD
CA378898096
rs1480777193
36 Y>H No ClinGen
gnomAD
CA5732661
rs143257438
38 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1564815470
CA378898077
39 E>K No ClinGen
Ensembl
rs1306424820
CA378898060
41 W>G No ClinGen
TOPMed
gnomAD
rs1306424820
CA378898062
41 W>R No ClinGen
TOPMed
gnomAD
rs936347610
CA215572450
42 S>G No ClinGen
Ensembl
CA378898044
rs1381156771
43 R>Q No ClinGen
gnomAD
rs1248837480
CA378898045
43 R>W No ClinGen
gnomAD
rs1336545843
CA378898028
45 P>L No ClinGen
TOPMed
gnomAD
rs1392303751
CA378898019
47 Y>H No ClinGen
gnomAD
rs1296657491
CA378898009
48 A>S No ClinGen
gnomAD
CA378898011
rs1296657491
48 A>T No ClinGen
gnomAD
rs768048796
CA5732660
48 A>V No ClinGen
ExAC
gnomAD
rs1426414905
CA378898004
49 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA378898002
COSM1474441
rs761287092
49 R>H breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5732659
rs761287092
49 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA378897996
rs1165504457
50 P>L No ClinGen
TOPMed
gnomAD
rs1165504457
CA378897997
50 P>R No ClinGen
TOPMed
gnomAD
rs1054510798
CA215572449
51 E>G No ClinGen
TOPMed
rs1446422259
CA378897983
52 P>L No ClinGen
gnomAD
TCGA novel 53 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751125936
CA5732658
53 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs942874685
CA215572447
54 L>V No ClinGen
TOPMed
CA378897951
rs1252331832
57 F>C No ClinGen
gnomAD
rs911419370
CA215572446
57 F>L No ClinGen
TOPMed
gnomAD
rs1279479818
CA378897955
57 F>L No ClinGen
TOPMed
rs762529185
CA5732656
59 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs934264986
CA215572444
60 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA378897936
rs1590106912
60 P>S No ClinGen
Ensembl
CA378897919
rs1357983128
63 A>E No ClinGen
gnomAD
rs1042714692
CA215572442
66 G>R No ClinGen
TOPMed
gnomAD
rs1042714692
CA378897903
66 G>W No ClinGen
TOPMed
gnomAD
rs573651187
CA5732654
67 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA378897886
rs1349339422
68 E>D No ClinGen
gnomAD
CA5732653
rs555958103
69 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA378897882
rs1590106871
69 W>G No ClinGen
Ensembl
rs1305075975
CA378897873
70 E>G No ClinGen
gnomAD
rs1422816998
CA378897867
COSM3382722
71 R>W pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs962374194
CA215572441
72 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776688409
CA5732652
72 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs909638407
CA378897834
76 P>H No ClinGen
TOPMed
gnomAD
CA215572440
rs909638407
76 P>L No ClinGen
TOPMed
gnomAD
rs1418194011
CA378897832
77 R>G No ClinGen
TOPMed
gnomAD
rs1590106835
CA378897830
77 R>K No ClinGen
Ensembl
CA378897820
rs1269121549
78 P>L No ClinGen
gnomAD
CA5732650
rs748236733
81 R>K No ClinGen
ExAC
gnomAD
rs779140546
CA5732649
83 T>I No ClinGen
ExAC
gnomAD
CA378897778
rs1299537656
85 P>T No ClinGen
TOPMed
CA5732648
rs749492502
86 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs1238742629
CA378897769
86 K>N No ClinGen
gnomAD
rs749492502
CA5732647
86 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA215572436
rs985537403
88 A>V No ClinGen
Ensembl
TCGA novel
rs780425479
CA5732646
90 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA378897740
rs1285414559
91 R>K No ClinGen
gnomAD
rs201232023
CA215572435
91 R>S No ClinGen
1000Genomes
gnomAD
CA5732645
rs756402607
92 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA215572433
rs756402607
92 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 93 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 94 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378897718
rs1319016378
94 S>W No ClinGen
gnomAD
TCGA novel 95 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1156639615
CA378897705
96 P>L No ClinGen
TOPMed
gnomAD
rs1387013410
CA378897708
96 P>S No ClinGen
gnomAD
rs1429631580
CA378897700
97 E>G No ClinGen
TOPMed
gnomAD
CA378897704
rs1456507752
97 E>K No ClinGen
gnomAD
CA378897703
rs1456507752
97 E>Q No ClinGen
gnomAD
rs1429631580
CA378897701
97 E>V No ClinGen
TOPMed
gnomAD
rs1201153752
CA378897691
98 P>Q No ClinGen
gnomAD
rs1288299116
CA378897696
98 P>T No ClinGen
TOPMed
CA215572432
rs374015354
99 P>A No ClinGen
gnomAD
CA378897689
rs374015354
99 P>S No ClinGen
gnomAD
CA378897684
rs1193216339
100 P>A No ClinGen
gnomAD
rs1204975059
CA378897674
101 P>L No ClinGen
TOPMed
gnomAD
rs1204975059
CA378897676
101 P>Q No ClinGen
TOPMed
gnomAD
rs1260255116
CA378897677
101 P>S No ClinGen
gnomAD
CA378897672
rs750831501
102 G>C No ClinGen
ExAC
gnomAD
rs537345976
CA5732628
102 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA5732644
rs750831501
102 G>R No ClinGen
ExAC
gnomAD
TCGA novel 103 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378897649
rs1182199264
104 H>Y No ClinGen
gnomAD
rs746224473
CA5732627
106 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs781539249
CA5732626
107 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757714999
CA5732625
108 K>E No ClinGen
ExAC
gnomAD
CA378897614
rs1590095473
TCGA novel
108 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5732623
rs757828512
CA5732622
110 M>I No ClinGen
ExAC
gnomAD
CA5732624
rs752095775
110 M>L No ClinGen
ExAC
gnomAD
rs761693848
CA215571108
113 K>N No ClinGen
Ensembl
CA5732621
rs145829011
113 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754664405
CA5732619
117 K>M No ClinGen
ExAC
gnomAD
rs753631030
CA5732618
118 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5732617
rs576070966
118 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1279879025
CA378897544
119 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1260144824
CA378897543
120 N>D No ClinGen
TOPMed
CA5732616
rs760648493
120 N>S No ClinGen
ExAC
gnomAD
rs762923770
CA5732613
121 D>G No ClinGen
ExAC
gnomAD
CA5732614
rs777549768
121 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA215571107
rs963455416
122 D>E No ClinGen
TOPMed
gnomAD
CA378897528
rs1260832701
122 D>Y No ClinGen
TOPMed
CA5732612
rs775702927
124 S>G No ClinGen
ExAC
gnomAD
rs769837934
CA5732611
124 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs202210136
CA5732610
126 R>C Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 126 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5732609
rs776943296
126 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA378897500
rs776943296
126 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1200313242
CA378897496
127 V>E No ClinGen
gnomAD
COSM915785
rs771257066
CA5732608
129 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5732607
rs141445034
129 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732605
rs759010894
130 E>* No ClinGen
ExAC
gnomAD
TCGA novel 130 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378897123
rs1175529085
135 S>N No ClinGen
gnomAD
CA378897056
rs1564803239
139 L>F No ClinGen
Ensembl
rs1464727426
CA378897044
140 G>R No ClinGen
gnomAD
CA378897030
rs1554886820
140 G>V No ClinGen
Ensembl
CA378897007
rs1188212471
142 E>G No ClinGen
gnomAD
rs1240062869
CA378897014
142 E>Q No ClinGen
gnomAD
rs754506196
CA5732583
143 T>N No ClinGen
ExAC
gnomAD
CA5732581
rs529297000
145 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1321801346
CA378896906
148 D>H No ClinGen
gnomAD
rs1307570894
CA378896898
148 D>V No ClinGen
gnomAD
TCGA novel 148 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378896890
rs1297043986
149 F>L No ClinGen
gnomAD
CA378896870
rs1348214543
150 Q>* No ClinGen
Ensembl
TCGA novel 150 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226869779
CA378896852
151 L>F No ClinGen
gnomAD
rs750116155
CA5732578
151 L>H No ClinGen
ExAC
gnomAD
rs781050994
CA5732577
152 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs767306722
CA215569073
155 T>A No ClinGen
Ensembl
CA378896795
rs146535848
155 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM361525
CA5732576
rs146535848
155 T>M lung central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761486980
CA5732574
158 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5732573
rs144205490
158 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732572
rs144205490
158 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 158 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215569072
rs111710722
159 Y>N No ClinGen
Ensembl
COSM1249081
rs139562473
CA5732570
160 G>S oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1184045171
CA378896758
161 L>P No ClinGen
gnomAD
rs768037995
CA5732568
163 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA215569070
rs763012968
164 H>R No ClinGen
TOPMed
rs936864859
CA215569071
164 H>Y No ClinGen
TOPMed
CA5732566
rs373499345
165 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732565
rs373499345
165 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144190123
CA378896739
165 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144190123
CA5732564
165 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA215569069
rs1051148040
167 R>S No ClinGen
TOPMed
gnomAD
rs1202370101
CA378896730
167 R>T No ClinGen
gnomAD
CA378896722
rs1316327552
168 L>P No ClinGen
gnomAD
CA378896718
rs1339079664
169 N>Y No ClinGen
gnomAD
CA215569068
rs546029958
171 Q>R No ClinGen
1000Genomes
rs758287087
CA5732535
172 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA5732534
COSM167721
rs200954130
172 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776975412
CA215258328
173 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732531
rs776975412
173 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs756193715
CA5732532
173 G>S No ClinGen
ExAC
gnomAD
TCGA novel 175 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 175 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378636648
rs1318243446
176 E>* No ClinGen
gnomAD
rs1456426681
CA378636602
178 D>Y No ClinGen
gnomAD
rs912758409
CA215258312
180 Y>C No ClinGen
Ensembl
rs62640881
CA5732530
180 Y>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17679897
CA378636520
181 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779999511
CA5732528
182 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1564793846
CA378636479
183 A>T No ClinGen
Ensembl
CA5732527
rs764574900
183 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1227507322
CA378636427
185 C>Y No ClinGen
TOPMed
rs759082507
CA215258247
186 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA5732524
rs765724121
186 A>T No ClinGen
ExAC
gnomAD
rs759082507
CA5732523
186 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1265218160
CA378636379
187 G>R No ClinGen
gnomAD
CA215258235
rs1014536981
188 R>G No ClinGen
gnomAD
rs1163113077
CA378636350
189 N>D No ClinGen
Ensembl
rs1344401589
CA378636339
189 N>T No ClinGen
gnomAD
CA378636327
rs1290565658
190 D>N No ClinGen
TOPMed
rs1368630623
CA378636301
191 L>F No ClinGen
gnomAD
CA378636292
rs1270802090
191 L>P No ClinGen
gnomAD
CA5732520
rs746690533
194 W>* No ClinGen
ExAC
gnomAD
rs770563227
CA5732521
194 W>R No ClinGen
ExAC
gnomAD
TCGA novel 195 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1295183342
CA378636141
198 D>Y No ClinGen
gnomAD
TCGA novel 199 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378636112
rs1488641334
199 A>S No ClinGen
TOPMed
CA378636104
rs772955304
200 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1406441755
CA378636090
200 R>P No ClinGen
TOPMed
gnomAD
rs1406441755
CA378636091
200 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5732519
rs772955304
200 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5732517
rs137943270
201 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732516
rs367714651
201 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732515
rs754934044
204 R>G No ClinGen
ExAC
gnomAD
rs150318218
CA5732514
204 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781144431
CA5732513
206 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA378636026
rs111800333
207 G>A No ClinGen
gnomAD
rs111800333
CA215258172
207 G>D No ClinGen
gnomAD
rs376943268
CA5732512
209 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs915611587
CA215258168
210 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs751859621
CA5732511
211 Q>R No ClinGen
ExAC
rs1382458468
CA378635997
212 G>E No ClinGen
TOPMed
rs1442007126
CA378635992
213 R>K No ClinGen
gnomAD
rs761792844
CA215258138
214 N>I No ClinGen
ExAC
gnomAD
CA5732510
rs761792844
214 N>S No ClinGen
ExAC
gnomAD
rs1434092890
CA378635974
216 L>F No ClinGen
TOPMed
rs1196819986
CA378629725
219 S>G No ClinGen
gnomAD
rs753053187
CA5732488
221 W>L No ClinGen
ExAC
rs200791860
CA5732489
221 W>R No ClinGen
1000Genomes
ExAC
rs755474622
CA5732486
222 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs755474622
CA5732487
222 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA378629670
rs1473293680
223 T>A No ClinGen
TOPMed
gnomAD
rs1251824151
CA378629662
224 S>T No ClinGen
gnomAD
CA378629615
rs1248591770
227 V>I No ClinGen
TOPMed
rs140219726
CA5732484
229 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732483
rs140219726
229 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732482
rs749999619
233 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA5732481
rs375551890
235 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA215220671
rs375551890
235 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732479
rs774146335
236 W>R No ClinGen
ExAC
gnomAD
rs768367175
CA5732478
237 V>F No ClinGen
ExAC
gnomAD
rs1409104850
CA378629324
242 G>R No ClinGen
gnomAD
CA5732476
rs775266168
CA5732477
246 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA215220628
rs892164439
246 M>V No ClinGen
Ensembl
rs1477626468
CA378629083
247 I>M No ClinGen
gnomAD
rs1189428221
CA378629095
247 I>V No ClinGen
gnomAD
rs1458667738
CA378629078
248 F>V No ClinGen
TOPMed
CA5732463
rs561979130
249 E>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1210324555
CA378629046
250 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378629023
rs1165211004
252 S>N No ClinGen
TOPMed
rs201670839
CA215219576
255 E>V No ClinGen
Ensembl
CA378628949
rs1564774544
258 V>I No ClinGen
Ensembl
TCGA novel 260 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378628892
rs1210313339
262 L>V No ClinGen
gnomAD
rs994025078
CA215219551
263 P>L No ClinGen
Ensembl
CA378628867
rs1219185190
264 V>D No ClinGen
gnomAD
CA5732455
rs199927775
264 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA378628860
rs1564774485
265 P>A No ClinGen
Ensembl
rs1366533225
CA378628856
265 P>L No ClinGen
TOPMed
gnomAD
rs1366533225
CA378628857
265 P>R No ClinGen
TOPMed
gnomAD
rs773389892
CA5732453
267 V>A No ClinGen
ExAC
gnomAD
CA5732451
COSM1346543
rs368914654
269 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368914654
CA5732450
269 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774426425
CA5732449
269 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732448
rs748247193
270 Y>* No ClinGen
ExAC
gnomAD
COSM381818
rs146633990
CA5732447
272 R>C lung oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749545644
CA5732446
COSM915783
272 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378628761
rs749545644
272 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA378628754
rs1256978206
273 I>L No ClinGen
TOPMed
CA5732444
rs144549153
274 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732443
rs746404523
275 P>A No ClinGen
ExAC
gnomAD
TCGA novel 276 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1190339989
CA378628711
276 Q>P No ClinGen
gnomAD
CA5732442
rs781693992
277 S>Y No ClinGen
ExAC
gnomAD
rs1247110502
CA378628666
279 F>S No ClinGen
gnomAD
TCGA novel 280 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756698375
CA5732441
281 N>T No ClinGen
ExAC
gnomAD
CA378628614
rs1484003432
283 S>N No ClinGen
gnomAD
rs140492343
CA5732440
284 I>V No ClinGen
ESP
ExAC
gnomAD
CA5732439
rs763587964
285 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs374576387
CA5732438
287 R>S No ClinGen
ESP
ExAC
gnomAD
CA378628571
rs1362237875
289 E>Q No ClinGen
TOPMed
rs1159080225
CA378628554
291 L>P No ClinGen
TOPMed
CA378628551
rs1405734952
292 G>R No ClinGen
gnomAD
rs765155654
CA5732436
293 C>F No ClinGen
ExAC
gnomAD
rs1432848663
CA378628538
294 P>A No ClinGen
TOPMed
CA5732434
rs776692250
296 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 298 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378627620
rs1247435269
298 P>R No ClinGen
gnomAD
rs777365472
CA5732422
299 N>D No ClinGen
ExAC
gnomAD
rs1312299629
CA378627611
300 N>D No ClinGen
gnomAD
CA5732420
rs752370453
301 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs757948905
CA5732421
301 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA5732419
rs765035229
302 Y>C No ClinGen
ExAC
gnomAD
CA215205875
rs78879045
303 H>P No ClinGen
Ensembl
rs145723018
CA5732418
304 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732417
rs376038492
304 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732415
COSM374872
rs370358833
305 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372846460
CA5732416
305 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764262720
CA5732413
306 N>D No ClinGen
ExAC
gnomAD
CA5732414
rs764262720
306 N>H No ClinGen
ExAC
gnomAD
CA215205855
rs376249274
306 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732411
rs775667656
307 E>G No ClinGen
ExAC
gnomAD
rs751380071
CA215205848
307 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs770057188
CA5732410
308 M>R No ClinGen
ExAC
gnomAD
rs776218004
CA215205836
311 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA378627517
rs1564765441
315 D>Y No ClinGen
Ensembl
rs1268649078
CA378627502
316 F>L No ClinGen
gnomAD
TCGA novel 317 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776994597
CA5732408
318 H>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 319 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771296124
CA5732407
319 H>R No ClinGen
ExAC
gnomAD
CA5732406
rs747583183
320 N>S No ClinGen
ExAC
gnomAD
rs939649167
CA215205820
321 Y>C No ClinGen
gnomAD
CA378627443
rs1227859179
324 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778184898
CA5732405
324 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747723133
COSM915780
CA5732404
325 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754686014
CA5732401
COSM915779
325 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754686014
CA5732402
325 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs747723133
CA5732403
325 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA5732400
rs779919295
326 Q>H No ClinGen
ExAC
gnomAD
rs1395009327
CA378636813
329 K>Q No ClinGen
gnomAD
rs1189681043
CA378636808
329 K>T No ClinGen
gnomAD
rs1451737318
CA378636799
331 V>M No ClinGen
gnomAD
rs751886826
CA215200802
332 N>S No ClinGen
TOPMed
gnomAD
CA378636751
rs1280872186
334 M>T No ClinGen
gnomAD
CA215200800
rs952737994
336 P>L No ClinGen
TOPMed
CA5732376
rs376372536
337 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732375
rs757189750
338 I>V No ClinGen
ExAC
rs752725785
CA5732374
339 T>A No ClinGen
ExAC
gnomAD
CA5732373
rs765333969
339 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 341 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378636591
rs1367136389
342 Y>* No ClinGen
gnomAD
CA378636594
rs1228965552
342 Y>C No ClinGen
gnomAD
rs1295070123
CA378636565
343 N>S No ClinGen
TOPMed
gnomAD
CA5732372
rs557565980
344 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA378636543
rs1429651881
344 I>T No ClinGen
gnomAD
TCGA novel 345 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378636438
rs1335700297
349 Q>R No ClinGen
TOPMed
gnomAD
rs1305646256
CA378636424
350 G>S No ClinGen
TOPMed
TCGA novel 351 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1393783351
CA378636395
352 K>Q No ClinGen
gnomAD
CA5732371
rs754069945
354 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA378636359
rs754069945
354 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA378636367
rs1374265874
354 Y>H No ClinGen
gnomAD
TCGA novel 355 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761101657
CA5732369
360 D>G No ClinGen
ExAC
gnomAD
CA5732367
rs768013289
363 G>A No ClinGen
ExAC
gnomAD
CA378636139
rs1485387794
364 E>V No ClinGen
gnomAD
CA5732366
rs149790654
365 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149790654
CA215200793
365 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732365
rs773956192
366 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs139790511 367 V>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA5732363
rs201099744
368 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201099744
CA5732362
368 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1348025071
CA378635625
370 P>H No ClinGen
TOPMed
gnomAD
rs776387177
CA5732341
371 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5732340
rs770692756
372 F>L No ClinGen
ExAC
gnomAD
rs1461159406
CA378635579
373 H>D No ClinGen
TOPMed
gnomAD
CA5732339
rs746866224
373 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs746866224
CA378635575
373 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA378635555
rs1161541708
374 Y>H No ClinGen
gnomAD
CA5732338
rs568542152
376 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM915778
CA5732337
rs199923458
376 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA378635458
rs1468395470
377 G>E No ClinGen
TOPMed
TCGA novel 378 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5732334
rs780023934
378 A>T No ClinGen
ExAC
rs868029784
CA215200406
380 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5732332
rs202065646
381 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378635337
rs1268383279
382 E>G No ClinGen
gnomAD
CA378635296
rs1210132382
383 V>G No ClinGen
gnomAD
rs200536913
CA215200403
COSM340855
383 V>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs200536913
CA215200404
383 V>M No ClinGen
TOPMed
CA378635264
rs1314646744
385 G>D No ClinGen
gnomAD
CA378635242
rs201470381
386 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA5732330
rs201470381
386 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA5732331
rs144412439
386 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA215200397
rs866598999
387 E>K No ClinGen
Ensembl
rs1162481041
CA378635154
390 L>R No ClinGen
TOPMed
rs1327378582
CA378635131
392 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA378635088
rs1589977871
394 Q>* No ClinGen
Ensembl
rs1564759190
CA378635080
394 Q>L No ClinGen
Ensembl
CA378635068
rs1270420355
395 F>I No ClinGen
TOPMed
rs570702833
CA5732325
396 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767194600
CA5732324
398 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs375547613
CA5732323
399 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 399 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1418356949
CA378634953
400 Y>C No ClinGen
Ensembl
CA215200391
rs539111465
402 A>V No ClinGen
TOPMed
gnomAD
CA5732321
rs150240288
403 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732320
rs150240288
403 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140548347
CA5732322
403 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378634876
rs1415035157
405 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs760398201
COSM243836
CA5732318
406 R>C Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378634870
rs760398201
406 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA378634862
rs1453578509
406 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5732316
rs772000176
408 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378634826
rs1259673040
409 H>Y No ClinGen
TOPMed
gnomAD
CA378634801
rs1314526783
410 L>Q No ClinGen
gnomAD
CA5732313
rs769737772
412 E>Q No ClinGen
ExAC
gnomAD
rs746015077
CA5732312
414 T>A No ClinGen
ExAC
gnomAD
rs781558861
CA5732311
414 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139425659
COSM291544
CA5732307
415 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1346541
rs778302866
CA5732309
415 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs966833897
CA215200381
416 I>V No ClinGen
Ensembl
CA378634720
rs1355213772
417 H>R No ClinGen
TOPMed
rs199611205
CA5732305
418 V>I No ClinGen
ExAC
TOPMed
CA378634698
rs1171718267
420 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 421 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758966246
CA5732304
422 L>F No ClinGen
ExAC
gnomAD
CA378634665
rs1390610140
423 N>K No ClinGen
TOPMed
gnomAD
rs1564759063
CA378634661
424 P>S No ClinGen
Ensembl
rs367761553
CA5732302
425 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378634650
rs367761553
425 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732301
rs367761553
425 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771729647
CA378634613
427 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs772955437
CA5732300
427 Y>H No ClinGen
ExAC
TOPMed
gnomAD
COSM1603110
rs761713000
CA5732298
428 E>K liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs774140430
CA5732296
430 A>G No ClinGen
ExAC
gnomAD
rs1219725
CA378634541
431 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732293
rs745908668
432 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5732272
rs773304465
434 G>V No ClinGen
ExAC
gnomAD
CA5732271
rs748507520
435 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs751135616
CA215200069
CA215200067
436 E>D No ClinGen
gnomAD
rs1472634419
CA378634208
441 S>F No ClinGen
gnomAD
CA5732269
rs779359925
443 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1200559599
CA378634159
443 G>V No ClinGen
TOPMed
CA215200062
rs200985867
444 R>C No ClinGen
TOPMed
gnomAD
CA378634142
rs1268544607
444 R>H No ClinGen
TOPMed
gnomAD
CA378634135
rs1268544607
444 R>L No ClinGen
TOPMed
gnomAD
rs1427004840
CA378634128
445 W>R No ClinGen
TOPMed
rs749767431
CA5732266
450 I>T No ClinGen
ExAC
gnomAD
CA378633973
rs1209526349
453 N>I No ClinGen
gnomAD
CA5732265
rs62640897
454 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1335068677
CA378633928
456 F>L No ClinGen
TOPMed
gnomAD
CA378633904
rs1442844058
457 P>L No ClinGen
gnomAD
rs1368427272
CA378633866
460 N>D No ClinGen
gnomAD
CA378633855
rs1457397300
460 N>K No ClinGen
gnomAD
rs373921701
COSM3790565
CA5732262
460 N>S Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369814117
CA5732261
461 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1386559446
CA378633850
461 T>S No ClinGen
gnomAD
rs763980028
CA5732259
462 L>P No ClinGen
ExAC
gnomAD
rs765333652
CA215200055
468 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765333652
CA5732256
468 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5732255
rs138440648
469 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138440648
CA5732254
469 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200819708
CA5732253
469 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378633449
rs201420520
470 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs201420520
CA5732252
470 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1345732651
CA378633432
472 V>D No ClinGen
TOPMed
gnomAD
rs200663265
CA215200045
478 N>D No ClinGen
TOPMed
gnomAD
rs200663265
CA215200047
478 N>H No ClinGen
TOPMed
gnomAD
rs954690841
CA215200044
478 N>S No ClinGen
Ensembl
rs140728421
CA5732250
480 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749707890
CA5732249
481 I>M No ClinGen
ExAC
gnomAD
rs1435411422
CA378633363
483 I>V No ClinGen
gnomAD
CA378633357
rs1263879435
484 P>T No ClinGen
TOPMed
CA5732248
rs780532016
486 W>C No ClinGen
ExAC
gnomAD
rs1315680477
CA378633343
486 W>R No ClinGen
gnomAD
TCGA novel 487 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770288035
CA5732247
489 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA378633307
rs1394911042
491 N>D No ClinGen
gnomAD
CA5732244
rs199507480
491 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5732245
rs780774935
491 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA378633298
rs1433819019
492 A>V No ClinGen
Ensembl
TCGA novel 493 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5732243
rs143241838
493 T>M Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378633293
rs143241838
493 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230913235
CA378632602
494 V>L No ClinGen
gnomAD
rs1589970803
CA378632598
495 A>P No ClinGen
Ensembl
rs753796864
CA5732218
496 A>T No ClinGen
ExAC
gnomAD
CA5732216
rs200207468
497 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA215199195
rs554307813
501 V>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA378632550
rs1406239300
502 I>M No ClinGen
gnomAD
CA215199193
rs987912217
505 M>I No ClinGen
TOPMed
CA5732215
rs751593437
505 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA5732213
rs764241273
509 P>L No ClinGen
ExAC
gnomAD
rs898514605
CA215199190
510 F>C No ClinGen
TOPMed
gnomAD
rs1231005915
CA378632489
511 V>A No ClinGen
gnomAD
CA5732212
rs763182723
511 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1468690860
CA378632480
513 G>C No ClinGen
TOPMed
gnomAD
CA215199186
rs1016902997
513 G>D No ClinGen
Ensembl
CA5732209
rs759866479
514 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1333547797
CA378632475
514 G>V No ClinGen
gnomAD
rs1284317153
CA378632464
516 L>M No ClinGen
gnomAD
rs1404276251
CA378632459
517 Q>* No ClinGen
gnomAD
CA5732208
rs377424380
517 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377424380
CA5732207
517 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772873539
CA5732205
519 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA378632439
rs1373560626
520 E>G No ClinGen
gnomAD
CA5732202
rs1374701771
520 E>K No ClinGen
TOPMed
rs1374701771
CA378632442
520 E>Q No ClinGen
TOPMed
rs778760709
CA5732200
522 V>L No ClinGen
ExAC
gnomAD
rs1161342087
CA378632425
523 V>M No ClinGen
gnomAD
rs754793118
CA5732199
524 A>S No ClinGen
ExAC
gnomAD
rs973544102
CA215199177
524 A>V No ClinGen
TOPMed
gnomAD
CA378632409
rs10794567
525 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 525 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756015936
CA5732196
526 P>T No ClinGen
ExAC
gnomAD
CA5732195
rs751586759
527 Y>D No ClinGen
ExAC
gnomAD
rs1217291885
CA378632395
COSM268382
528 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1284186247
CA378632386
529 L>V No ClinGen
gnomAD
CA5732192
rs752893237
530 V>M No ClinGen
ExAC
gnomAD
rs201710320
CA5732190
531 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5732189
rs201710320
531 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765435589
COSM915773
CA5732191
531 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732188
rs766862013
532 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 532 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378632355
rs766862013
532 S>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 533 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761120564
CA5732187
533 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs376940141
COSM1504711
CA5732186
534 W>* lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs181886504
COSM537673
CA5732185
536 T>M lung pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 537 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768195340
CA5732182
538 E>A No ClinGen
ExAC
gnomAD
rs147621142
CA215199164
538 E>D No ClinGen
ESP
TOPMed
rs1435229189
CA378632217
539 H>P No ClinGen
gnomAD
CA378632219
rs1435229189
539 H>R No ClinGen
gnomAD
rs749050997
CA5732181
540 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs749050997
CA378632207
540 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA5732180
rs779733716
541 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA378632140
rs1419796814
542 T>I No ClinGen
gnomAD
rs1589970370
CA378632160
542 T>P No ClinGen
Ensembl
rs781155643
CA5732177
543 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5732178
rs145279129
543 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378632097
rs10794566
544 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732175
rs752778704
544 D>N No ClinGen
ExAC
gnomAD
COSM3382718
rs1278707606
CA378632090
545 D>N pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA5732173
rs754192732
546 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs754192732
CA5732172
546 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA378632062
rs1475877032
546 H>Y No ClinGen
TOPMed
rs1298010139
CA378632045
547 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs761174266
CA5732170
548 F>S No ClinGen
ExAC
gnomAD
rs150707293
CA5732168
549 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732167
rs774008546
549 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5732166
COSM1675632
rs774008546
549 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs768303221
CA5732165
550 W>* No ClinGen
ExAC
gnomAD
CA378631989
rs1394826112
550 W>R No ClinGen
TOPMed
rs369779958
CA5732164
551 L>Q No ClinGen
ESP
ExAC
gnomAD
TCGA novel 552 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1334039190
CA378631952
552 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs775246800
CA5732163
552 A>V No ClinGen
ExAC
gnomAD
rs1589970220
CA378631929
553 Y>H No ClinGen
Ensembl
rs769452613
CA5732162
554 S>F No ClinGen
ExAC
gnomAD
CA5732160
rs770868672
555 Y>C No ClinGen
ExAC
gnomAD
rs770868672
CA5732159
555 Y>F No ClinGen
ExAC
gnomAD
rs776419928
CA215199148
555 Y>H No ClinGen
TOPMed
gnomAD
TCGA novel 556 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378631800
rs748178531
559 H>Q No ClinGen
ExAC
gnomAD
CA378631808
rs1286752769
559 H>R No ClinGen
TOPMed
COSM1603108
CA5732157
rs778892334
560 R>C Variant assessed as Somatic; 0.0 impact. liver breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs559678940
CA215199141
560 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
TCGA novel 562 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1253418408
CA378631721
563 T>R No ClinGen
gnomAD
rs547897756
CA378631701
564 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1344711604
CA378631687
565 A>D No ClinGen
gnomAD
CA5732155
COSM310316
rs753988266
565 A>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732153
rs529727115
566 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5732154
rs780378275
566 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 567 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1235223071
CA378631656
568 R>G No ClinGen
gnomAD
CA5732152
rs750826613
568 R>T No ClinGen
ExAC
gnomAD
rs1235223071
CA378631653
568 R>W No ClinGen
gnomAD
CA378631631
rs1589970090
569 V>G No ClinGen
Ensembl
TCGA novel 569 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs943461132
CA215199137
570 C>W No ClinGen
TOPMed
rs1250346217
CA378631608
571 H>Y No ClinGen
TOPMed
CA5732151
rs768083943
572 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs751042921
CA5732149
573 E>K No ClinGen
ExAC
gnomAD
rs1399087173
CA378631509
576 Q>K No ClinGen
gnomAD
RCV000947297
rs112981683
CA5732147
577 K>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA378631458
rs1462570090
578 E>G No ClinGen
gnomAD
rs148621668
CA5732145
581 T>A No ClinGen
ESP
ExAC
gnomAD
rs375460068
CA5732144
583 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145963968
CA5732142
585 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1376579257
CA378631343
585 A>V No ClinGen
TOPMed
CA5732141
COSM225661
rs746915657
586 S>F NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA378631329
rs1215735321
587 W>* No ClinGen
gnomAD
rs576715653
CA378631311
588 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378631309
rs1372623227
589 T>P No ClinGen
TOPMed
CA215199126
rs373117160
590 V>A No ClinGen
ESP
TOPMed
gnomAD
CA5732138
rs749448782
590 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs564623475
CA5732136
591 A>P No ClinGen
1000Genomes
ExAC
gnomAD
rs564623475
COSM260278
CA5732137
591 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA5732134
rs142483883
592 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378631276
rs142483883
592 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732135
rs750771582
592 G>R No ClinGen
ExAC
gnomAD
rs774473278
TCGA novel
CA5732102
593 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
TCGA novel 594 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1345403559
CA378630502
594 L>P No ClinGen
gnomAD
rs944271451
CA215198311
596 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1589964823
CA378630428
599 Y>* No ClinGen
Ensembl
CA378630417
rs1253983492
600 L>P No ClinGen
TOPMed
CA5732100
rs746005645
601 H>P No ClinGen
ExAC
gnomAD
CA378630398
rs1292795012
602 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA215198310
rs978313657
604 C>W No ClinGen
TOPMed
gnomAD
CA5732099
rs776991159
604 C>Y No ClinGen
ExAC
gnomAD
CA5732097
rs747279699
606 E>K Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5732095
rs758729644
608 S>F No ClinGen
ExAC
gnomAD
rs779452046
CA5732093
609 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs748664773
CA5732094
609 I>V No ClinGen
ExAC
gnomAD
CA5732092
rs561902091
COSM1675631
610 Y>C ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA215198308
rs764523007
610 Y>H No ClinGen
Ensembl
CA5732090
rs115379653
611 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378630288
rs115379653
611 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755816823
CA5732089
613 C>Y No ClinGen
ExAC
gnomAD
CA378630238
rs1277618132
615 K>E No ClinGen
gnomAD
CA378630205
rs1196066993
617 P>S No ClinGen
gnomAD
CA5732088
rs750148969
618 H>L No ClinGen
ExAC
gnomAD
rs767315657
CA5732087
618 H>Q No ClinGen
ExAC
gnomAD
rs750148969
CA378630191
618 H>R No ClinGen
ExAC
gnomAD
CA378630184
rs1355476857
619 E>K No ClinGen
TOPMed
gnomAD
rs1413429385
CA378630159
620 S>N No ClinGen
gnomAD
rs1340285912
CA378630140
622 L>M No ClinGen
gnomAD
rs145812368
CA5732085
COSM1346538
624 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5732083
rs537047960
626 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs537047960
CA5732082
626 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5732084
rs764195020
626 W>R No ClinGen
ExAC
gnomAD
rs1420064685
CA378630102
627 E>D No ClinGen
gnomAD
rs772474255
CA5732080
630 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs772474255
CA5732079
630 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1492179
CA5732081
rs368753397
630 R>W kidney Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1236744111
CA378630060
634 I>N No ClinGen
gnomAD
rs78179127
CA5732077
635 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 636 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378630037
CA5732076
rs779323414
637 M>I No ClinGen
ExAC
gnomAD
CA5732057
rs530115758
640 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530115758
CA5732058
640 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780477883
CA5732055
642 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780477883
CA5732056
642 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs769337470
CA5732054
642 R>H Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138945308
CA5732052
643 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs892035626
CA215198017
643 G>R No ClinGen
Ensembl
rs138945308
CA5732053
643 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1176488435
CA378629549
646 G>D No ClinGen
gnomAD
TCGA novel 650 D>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5732050
rs751352280
650 D>G No ClinGen
ExAC
gnomAD
rs1318926349
CA378629444
652 H>R No ClinGen
gnomAD
rs562507770
CA5732049
655 G>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 657 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142684083
CA5732047
658 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs997705127
CA215198016
659 A>T No ClinGen
gnomAD
CA5732046
rs765152743
659 A>V No ClinGen
ExAC
gnomAD
CA5732045
rs756148801
660 I>V No ClinGen
ExAC
gnomAD
CA215198015
rs901974839
661 I>M No ClinGen
Ensembl
CA5732044
rs140927371
662 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5732043
rs138679076
663 V>I Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764423566
CA5732040
665 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs764423566
CA5732042
665 G>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 665 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764423566
CA5732041
665 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA5732038
COSM1249080
rs770208711
667 N>K oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs745327315
CA5732036
668 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs147055269
CA5732034
671 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746636608
CA5732033
671 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378629131
rs1341668899
672 T>I No ClinGen
TOPMed
CA378628278
rs1172009212
674 N>S No ClinGen
TOPMed
gnomAD
CA378628280
rs1172009212
674 N>T No ClinGen
TOPMed
gnomAD
rs746583159
CA5732013
674 N>Y No ClinGen
ExAC
gnomAD
rs1342470209
CA378628266
675 D>G No ClinGen
TOPMed
rs747926025
CA5732011
675 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs747926025
CA5732010
675 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754838132
CA5732008
677 D>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 679 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5732006
rs749163201
COSM3414786
680 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3396970
CA5732005
rs780028739
680 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1481124044
CA378628187
681 L>F No ClinGen
gnomAD
rs1234839677
CA378628186
681 L>P No ClinGen
gnomAD
rs757327939
CA5732004
683 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA378628161
rs1317421303
683 N>K No ClinGen
gnomAD
rs1273870238
CA378628152
684 P>R No ClinGen
gnomAD
rs867049659
CA215197151
684 P>S No ClinGen
Ensembl
TCGA novel 688 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1323428914
CA378628106
688 V>M No ClinGen
gnomAD
rs940829569
CA215197150
691 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs758572547
CA5732001
692 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1373724245
CA378628056
692 K>R No ClinGen
gnomAD
CA378628041
rs1398980589
COSM388946
694 E>D lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs770522746
COSM3665569
CA5731998
694 E>K Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378628034
rs1325976479
695 G>V No ClinGen
gnomAD
CA378628024
rs1367238015
697 T>A No ClinGen
gnomAD
rs1366789123
CA378628020
697 T>I No ClinGen
TOPMed
rs1367238015
CA378628025
697 T>P No ClinGen
gnomAD
rs1158332407
CA378628009
699 S>F No ClinGen
gnomAD
rs921233363
CA215197148
699 S>T No ClinGen
TOPMed
CA5731996
rs561186270
700 T>A No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 701 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1564746967
CA378627973
704 M>I No ClinGen
Ensembl
CA378627969
rs1177063432
705 V>L No ClinGen
gnomAD
rs771808249
COSM386322
CA5731992
709 M>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5731993
rs772867825
709 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA5731991
rs761337276
710 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA378627935
rs1319667985
710 G>R No ClinGen
TOPMed
CA378627930
rs1310223043
711 A>S No ClinGen
TOPMed
CA378627928
rs1310223043
711 A>T No ClinGen
TOPMed
rs774098993
CA5731990
711 A>V No ClinGen
ExAC
gnomAD
CA378627920
rs1263634298
712 T>I No ClinGen
gnomAD
CA5731989
rs768326532
713 R>G No ClinGen
ExAC
gnomAD
rs749176185
CA5731988
713 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1039725030
CA215197147
714 C>* No ClinGen
TOPMed
rs779902262
CA5731987
714 C>G No ClinGen
ExAC
rs1311151376
CA378627912
714 C>Y No ClinGen
gnomAD
TCGA novel 717 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747043833
CA5731985
718 L>F No ClinGen
ExAC
gnomAD
CA5731984
rs777862494
719 S>N No ClinGen
ExAC
gnomAD
CA5731983
rs148889875
719 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 721 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5731982
CA5731981
rs779261757
723 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1247799371
CA378627841
724 A>G No ClinGen
TOPMed
rs1454746251
CA378627824
727 R>* No ClinGen
gnomAD
COSM236396
CA5731980
rs755228564
727 R>Q autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM173144
rs967577808
CA215197146
728 E>D large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs754267131
CA5731979
729 I>F No ClinGen
ExAC
gnomAD
CA5731978
rs766940993
730 M>V No ClinGen
ExAC
CA5731977
rs761292953
732 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1395937454
CA378627784
733 F>L No ClinGen
gnomAD
CA5731974
rs761447450
738 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5731973
rs62640887
741 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1486145785
CA378627714
743 R>S No ClinGen
TOPMed
gnomAD
rs1209217195
CA378627717
743 R>T No ClinGen
gnomAD
CA5731969
rs149753704
744 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5731970
rs149753704
COSM74253
744 R>Q ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762600262
CA5731971
744 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5731968
rs745775195
747 L>R No ClinGen
ExAC
gnomAD
CA378627692
rs374183184
748 R>L No ClinGen
ESP
ExAC
TOPMed
rs374183184
CA215197143
748 R>P No ClinGen
ESP
ExAC
TOPMed
CA5731966
rs374183184
748 R>Q No ClinGen
ESP
ExAC
TOPMed
rs1455207884
CA378627693
COSM915768
748 R>W pancreas Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs139450310
CA5731964
750 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139450310
CA5731965
750 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7088479
CA378627683
750 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7088479
CA378627684
750 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7088479
VAR_048603
CA5731963
750 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5731961
rs755249876
753 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5731960
rs749626733
753 R>Q No ClinGen
ExAC
gnomAD
rs780530593
CA5731959
754 Q>* No ClinGen
ExAC
gnomAD
COSM2021054
CA5731958
rs756593635
755 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750948954
CA5731957
755 R>H Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1464713173 757 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378627645
rs1589953625
757 G>G No ClinGen
Ensembl
CA378627642
rs1464713173
757 G>S No ClinGen
TOPMed
gnomAD

No associated diseases with Q8N436

2 regional properties for Q8N436

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 56 - 303 IPR017452
domain CXC chemokine receptor 4 N-terminal domain 6 - 39 IPR022726

Functions

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

1 GO annotations of cellular component

Name Definition
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

2 GO annotations of molecular function

Name Definition
metallocarboxypeptidase activity Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding Binding to a zinc ion (Zn).

2 GO annotations of biological process

Name Definition
peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.
protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.

16 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P04836 CPE Carboxypeptidase E Bos taurus (Bovine) PR
Q2KJ83 CPN1 Carboxypeptidase N catalytic chain Bos taurus (Bovine) PR
Q8QGP3 CPZ Carboxypeptidase Z Gallus gallus (Chicken) PR
P14384 CPM Carboxypeptidase M Homo sapiens (Human) PR
Q96SM3 CPXM1 Probable carboxypeptidase X1 Homo sapiens (Human) PR
Q66K79 CPZ Carboxypeptidase Z Homo sapiens (Human) PR
Q8IUX7 AEBP1 Adipocyte enhancer-binding protein 1 Homo sapiens (Human) PR
O75976 CPD Carboxypeptidase D Homo sapiens (Human) PR
Q80V42 Cpm Carboxypeptidase M Mus musculus (Mouse) PR
O89001 Cpd Carboxypeptidase D Mus musculus (Mouse) PR
Q9JJN5 Cpn1 Carboxypeptidase N catalytic chain Mus musculus (Mouse) PR
Q9Z100 Cpxm1 Probable carboxypeptidase X1 Mus musculus (Mouse) PR
Q640N1 Aebp1 Adipocyte enhancer-binding protein 1 Mus musculus (Mouse) PR
Q9D2L5 Cpxm2 Inactive carboxypeptidase-like protein X2 Mus musculus (Mouse) PR
Q9EQV8 Cpn1 Carboxypeptidase N catalytic chain Rattus norvegicus (Rat) PR
A2RUV9 Aebp1 Adipocyte enhancer-binding protein 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSRPGTATPA LALVLLAVTL AGVGAQGAAL EDPDYYGQEI WSREPYYARP EPELETFSPP
70 80 90 100 110 120
LPAGPGEEWE RRPQEPRPPK RATKPKKAPK REKSAPEPPP PGKHSNKKVM RTKSSEKAAN
130 140 150 160 170 180
DDHSVRVARE DVRESCPPLG LETLKITDFQ LHASTVKRYG LGAHRGRLNI QAGINENDFY
190 200 210 220 230 240
DGAWCAGRND LQQWIEVDAR RLTRFTGVIT QGRNSLWLSD WVTSYKVMVS NDSHTWVTVK
250 260 270 280 290 300
NGSGDMIFEG NSEKEIPVLN ELPVPMVARY IRINPQSWFD NGSICMRMEI LGCPLPDPNN
310 320 330 340 350 360
YYHRRNEMTT TDDLDFKHHN YKEMRQLMKV VNEMCPNITR IYNIGKSHQG LKLYAVEISD
370 380 390 400 410 420
HPGEHEVGEP EFHYIAGAHG NEVLGRELLL LLVQFVCQEY LARNARIVHL VEETRIHVLP
430 440 450 460 470 480
SLNPDGYEKA YEGGSELGGW SLGRWTHDGI DINNNFPDLN TLLWEAEDRQ NVPRKVPNHY
490 500 510 520 530 540
IAIPEWFLSE NATVAAETRA VIAWMEKIPF VLGGNLQGGE LVVAYPYDLV RSPWKTQEHT
550 560 570 580 590 600
PTPDDHVFRW LAYSYASTHR LMTDARRRVC HTEDFQKEEG TVNGASWHTV AGSLNDFSYL
610 620 630 640 650 660
HTNCFELSIY VGCDKYPHES QLPEEWENNR ESLIVFMEQV HRGIKGLVRD SHGKGIPNAI
670 680 690 700 710 720
ISVEGINHDI RTANDGDYWR LLNPGEYVVT AKAEGFTAST KNCMVGYDMG ATRCDFTLSK
730 740 750
TNMARIREIM EKFGKQPVSL PARRLKLRGQ KRRQRG