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 Q6ZT07

Entry ID Method Resolution Chain Position Source
AF-Q6ZT07-F1 Predicted AlphaFoldDB

813 variants for Q6ZT07

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000851205
rs1578810332
CA358298613
1179 H>Y Attention deficit hyperactivity disorder [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs866083659
CA107328648
2 W>L No ClinGen
Ensembl
rs1243910408
CA358383612
3 V>M No ClinGen
gnomAD
rs369903334
CA3087753
4 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA107328647
rs13108832
6 E>K No ClinGen
Ensembl
CA107328646
rs13108832
6 E>Q No ClinGen
Ensembl
rs763635729
CA3087752
6 E>V No ClinGen
ExAC
gnomAD
VAR_052539
CA107328645
rs13108827
7 E>K No ClinGen
UniProt
Ensembl
dbSNP
rs775465678
CA3087750
9 L>F No ClinGen
ExAC
gnomAD
CA358383565
rs1253491505
10 L>R No ClinGen
gnomAD
rs1387067483
COSM1427280
CA358383564
COSM1427281
11 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs769930104
CA3087746
12 N>K No ClinGen
ExAC
gnomAD
CA3087748
rs759253011
12 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358383556
rs1291376576
12 N>Y No ClinGen
gnomAD
rs1578870035
CA358383531
16 I>L No ClinGen
Ensembl
CA358383527
rs1169938169
16 I>T No ClinGen
TOPMed
gnomAD
rs13140927
CA107328644
17 T>P No ClinGen
Ensembl
CA358383519
rs1371790258
18 E>Q No ClinGen
gnomAD
rs1192928361
CA358383486
22 P>L No ClinGen
TOPMed
gnomAD
rs1269765694
CA358383478
23 Y>* No ClinGen
gnomAD
rs559120863
CA3087745
25 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1332231946
CA358383458
27 Q>K No ClinGen
TOPMed
rs776681937
CA3087744
27 Q>R No ClinGen
ExAC
gnomAD
CA358383448
rs1269481009
28 R>Q No ClinGen
gnomAD
CA358383450
rs1337372033
28 R>W No ClinGen
TOPMed
gnomAD
CA107328642
rs201282622
29 R>S No ClinGen
1000Genomes
CA358383434
rs1233732236
30 K>N No ClinGen
gnomAD
CA358383440
rs1389725779
30 K>Q No ClinGen
TOPMed
rs1200947121
CA358383432
31 G>S No ClinGen
TOPMed
gnomAD
rs780712720
CA3087741
33 A>T No ClinGen
ExAC
gnomAD
CA358383409
rs1309334071
34 G>D No ClinGen
gnomAD
rs1205854769
CA358383401
35 D>E No ClinGen
gnomAD
CA3087740
rs758921166
35 D>N No ClinGen
ExAC
gnomAD
CA358383405
rs1261149527
35 D>V No ClinGen
gnomAD
rs111979573
CA107328641
36 G>R No ClinGen
Ensembl
CA3087739
rs746243690
37 G>S No ClinGen
ExAC
gnomAD
rs202220348
CA3087736
38 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358383383
rs1478630938
39 G>C No ClinGen
gnomAD
CA358383385
rs1478630938
39 G>S No ClinGen
gnomAD
CA358383370
rs1379774386
41 G>E No ClinGen
gnomAD
CA358383362
rs1197696656
43 A>T No ClinGen
TOPMed
gnomAD
rs901368336
CA107328639
43 A>V No ClinGen
gnomAD
CA358383357
rs753576508
44 G>R No ClinGen
ExAC
gnomAD
rs753576508
CA3087734
44 G>S No ClinGen
ExAC
gnomAD
CA358308516
rs1202835583
46 L>M No ClinGen
gnomAD
CA358308515
rs1202835583
46 L>V No ClinGen
gnomAD
CA358308503
rs1267151333
48 G>D No ClinGen
TOPMed
CA106803782
rs922539717
48 G>S No ClinGen
TOPMed
gnomAD
rs777048557
CA3087725
50 L>F No ClinGen
ExAC
gnomAD
rs1310716040
CA358308488
51 D>H No ClinGen
gnomAD
CA358308478
rs1372153085
52 V>A No ClinGen
gnomAD
rs768993202
CA3087724
52 V>I No ClinGen
ExAC
gnomAD
CA3087723
rs747102322
54 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA358308462
rs1385658714
55 D>Y No ClinGen
gnomAD
rs1335255196
CA358308455
56 S>P No ClinGen
gnomAD
rs762318436
CA106803774
57 S>R No ClinGen
ExAC
gnomAD
CA3087721
rs560873862
58 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358308436
rs1407462177
59 R>Q No ClinGen
gnomAD
CA3087720
rs746432332
59 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1163916708
CA358308433
60 V>I No ClinGen
gnomAD
rs779266798
CA3087719
61 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1016740273
CA106803725
64 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs757700003
CA3087718
COSM1051503
COSM1051504
64 R>Q endometrium Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs749612649
CA3087717
65 I>L No ClinGen
ExAC
gnomAD
CA358308395
rs777405651
66 L>F No ClinGen
ExAC
gnomAD
CA358308376
rs1578847327
69 T>P No ClinGen
Ensembl
rs755703786
CA3087715
70 P>S No ClinGen
ExAC
gnomAD
TCGA novel 71 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 71 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1301093137
CA358308357
72 S>P No ClinGen
TOPMed
rs780640450
CA3087713
74 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs754410008
CA3087712
75 Y>C No ClinGen
ExAC
gnomAD
rs868074325
CA106803688
79 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 84 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750276567
CA3087690
85 K>R No ClinGen
ExAC
gnomAD
CA106794126
rs998197156
86 E>Q No ClinGen
gnomAD
CA3087688
rs749539957
87 I>T No ClinGen
ExAC
gnomAD
rs753030498
CA3087687
88 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1479257825
CA358306380
98 L>H No ClinGen
gnomAD
CA106794080
rs891862429
100 Q>H No ClinGen
Ensembl
CA358306366
rs1205298285
100 Q>R No ClinGen
gnomAD
rs774234726
CA3087684
104 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs771488859
CA3087683
108 E>G No ClinGen
ExAC
gnomAD
rs1385331249
CA358306313
108 E>K No ClinGen
TOPMed
rs763407342
CA3087682
110 D>G No ClinGen
ExAC
gnomAD
rs1351192205
CA358306291
111 I>L No ClinGen
TOPMed
TCGA novel 111 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358306284
rs1279854110
112 T>P No ClinGen
gnomAD
rs1410640443
CA358306247
117 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3087678
rs780963068
118 K>E No ClinGen
ExAC
gnomAD
CA106789626
rs913077567
122 I>V No ClinGen
TOPMed
TCGA novel 125 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087661
rs776800442
127 N>K No ClinGen
ExAC
TOPMed
CA106789616
rs969367676
128 K>Q No ClinGen
gnomAD
TCGA novel 128 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA106789601
rs976602223
130 N>S No ClinGen
TOPMed
gnomAD
CA358304688
rs1478820914
131 D>V No ClinGen
gnomAD
rs746682723
CA3087659
132 V>I No ClinGen
ExAC
gnomAD
CA3087658
rs775187381
133 K>* No ClinGen
ExAC
gnomAD
CA358304640
rs1460367351
134 E>K No ClinGen
gnomAD
rs770952787
CA106789575
138 T>M No ClinGen
TOPMed
gnomAD
CA358304461
rs1274887408
143 E>A No ClinGen
TOPMed
rs1335200671
CA358304437
145 I>V No ClinGen
TOPMed
TCGA novel 148 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087655
rs779001860
149 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs373345722
CA3087654
149 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358304283
rs1381929281
154 M>V No ClinGen
gnomAD
CA3087650
rs751773715
160 L>F No ClinGen
ExAC
gnomAD
rs758539226
CA3087648
COSM3940755
COSM3940754
161 V>I oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs750433882
CA3087647
162 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA106789480
rs750433882
162 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA106789472
rs532709886
163 Y>D No ClinGen
1000Genomes
gnomAD
rs1385082764
CA358304111
165 S>P No ClinGen
gnomAD
rs762269161
CA3087645
167 S>N No ClinGen
ExAC
gnomAD
TCGA novel 168 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358304036
rs1260062026
169 W>* No ClinGen
gnomAD
CA106789465
rs868097430
171 G>E No ClinGen
Ensembl
rs1578837468
CA358303998
172 K>E No ClinGen
Ensembl
TCGA novel 172 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087644
rs777165729
172 K>R No ClinGen
ExAC
gnomAD
rs1578837461
CA358303975
173 V>G No ClinGen
Ensembl
CA3087642
rs761087563
175 R>C No ClinGen
ExAC
gnomAD
CA3087641
rs376048979
175 R>H Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358303855
rs1578837438
179 M>I No ClinGen
Ensembl
TCGA novel 182 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087638
rs773952128
185 H>D No ClinGen
ExAC
gnomAD
rs564870543
CA3087637
186 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358303738
rs1354006701
188 F>S No ClinGen
TOPMed
CA3087636
rs749221395
193 M>I No ClinGen
ExAC
gnomAD
CA3087635
rs777740946
194 G>E No ClinGen
ExAC
gnomAD
CA358303613
rs904256882
197 A>E No ClinGen
TOPMed
gnomAD
CA106789178
rs904256882
197 A>V No ClinGen
TOPMed
gnomAD
rs1394896133
CA358303582
199 L>V No ClinGen
gnomAD
rs774112896
CA3087621
200 V>I No ClinGen
ExAC
gnomAD
rs1174595507
CA358303540
202 R>Q No ClinGen
TOPMed
gnomAD
CA3087620
rs770610590
202 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1480228955
CA358303525
203 W>* No ClinGen
gnomAD
TCGA novel 204 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762507536
CA3087619
204 V>L No ClinGen
ExAC
gnomAD
TCGA novel 205 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1436008877
CA358303451
207 T>I No ClinGen
gnomAD
rs1204083235
CA358303427
208 Q>H No ClinGen
TOPMed
gnomAD
CA358303436
rs1249679037
208 Q>P No ClinGen
gnomAD
rs1325478882
CA358303418
209 L>F No ClinGen
gnomAD
TCGA novel 210 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358303404
rs1222599066
210 E>K No ClinGen
gnomAD
rs768410683
CA3087614
213 A>V No ClinGen
ExAC
gnomAD
CA3087612
rs757347232
219 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA3087611
rs757347232
219 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1174712532
CA358303249
220 V>A No ClinGen
gnomAD
CA358303177
rs1274067713
224 S>N No ClinGen
TOPMed
CA358303153
rs1408898958
225 T>A No ClinGen
gnomAD
CA358303123
rs1468619324
226 R>Q No ClinGen
gnomAD
CA3087609
rs778160381
226 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1053317047
CA106789077
228 S>G No ClinGen
Ensembl
rs1184180743
CA358303060
228 S>R No ClinGen
gnomAD
CA106789074
rs985272624
229 E>K No ClinGen
TOPMed
rs866281470
CA106789073
236 L>F No ClinGen
Ensembl
CA358302803
rs1202738874
239 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1221599844
CA358302755
240 E>D No ClinGen
gnomAD
CA358302777
rs1285868842
240 E>K No ClinGen
gnomAD
CA3087604
rs575883930
241 T>A No ClinGen
ExAC
gnomAD
CA3087603
rs766047579
243 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs762373650
CA3087602
245 M>T No ClinGen
ExAC
gnomAD
CA358302640
rs1409544547
246 E>V No ClinGen
TOPMed
rs1385540423
CA358302572
251 I>V No ClinGen
gnomAD
rs1486461430
CA358302562
252 A>G No ClinGen
Ensembl
rs574676613
CA106789048
253 M>V No ClinGen
gnomAD
rs765107446
CA3087600
255 Q>R No ClinGen
ExAC
gnomAD
rs1165324918
CA358302520
258 D>V No ClinGen
TOPMed
CA358302517
rs1180965752
259 N>H No ClinGen
gnomAD
CA358302501
rs373577196
CA106789020
261 G>R No ClinGen
TOPMed
CA3087595
rs774561535
264 Q>K No ClinGen
ExAC
gnomAD
rs916253445
CA358302465
266 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3087593
rs749353486
266 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3087594
rs749353486
266 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3087592
rs557414910
267 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA358302446
rs1475591683
270 K>Q No ClinGen
TOPMed
gnomAD
CA3087591
rs756118809
271 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA358302386
rs748711290
278 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs1056129788
CA106788948
278 K>N No ClinGen
Ensembl
CA3087589
rs748711290
278 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA3087587
rs755457722
279 V>L No ClinGen
ExAC
gnomAD
CA3087588
rs755457722
279 V>M No ClinGen
ExAC
gnomAD
rs1362255686
CA358302380
280 S>P No ClinGen
gnomAD
rs939299468
CA106788938
284 R>C No ClinGen
TOPMed
gnomAD
rs1284107218
CA358301421
289 R>T No ClinGen
gnomAD
CA3087569
rs370816280
292 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 292 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293000531
CA358301391
293 E>D No ClinGen
gnomAD
rs941138652
CA106787538
293 E>Q No ClinGen
TOPMed
gnomAD
CA3087567
rs758658105
296 R>C Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358301372
rs1168096809
296 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750148723
CA3087566
298 L>F No ClinGen
ExAC
gnomAD
rs756764581
CA3087564
300 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs764794465
CA3087565
300 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 302 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 312 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1177223294
CA358301251
314 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3087561
rs760569936
317 T>A No ClinGen
ExAC
gnomAD
rs1202892239
CA358301194
322 M>V No ClinGen
TOPMed
gnomAD
CA106787476
rs2303911
327 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1225654212
CA358301142
329 F>I No ClinGen
gnomAD
CA106787460
rs938983268
332 T>A No ClinGen
TOPMed
gnomAD
CA3087558
rs767397382
335 I>L No ClinGen
ExAC
gnomAD
CA358301078
rs1445912182
338 T>A No ClinGen
gnomAD
rs1157116008
CA358301074
338 T>I No ClinGen
TOPMed
gnomAD
rs773546162
CA3087556
339 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1338438003
CA358301062
340 K>R No ClinGen
gnomAD
rs770071019
CA3087555
342 E>K No ClinGen
ExAC
gnomAD
rs921034292
CA358301024
345 C>* No ClinGen
TOPMed
gnomAD
CA358301027
rs776802923
345 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA3087552
rs776802923
345 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA3087551
rs769316112
345 C>Y No ClinGen
ExAC
gnomAD
CA3087550
rs747558124
346 S>G No ClinGen
ExAC
gnomAD
CA3087549
rs780412725
351 L>F No ClinGen
ExAC
gnomAD
CA358300983
rs1255574879
COSM1051491
COSM1051492
352 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs752944904
CA3087547
352 R>H No ClinGen
ExAC
gnomAD
CA3087533
rs768905245
356 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1236916422
CA358300131
359 K>R No ClinGen
TOPMed
TCGA novel 359 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1035449862
CA106783808
361 D>G No ClinGen
TOPMed
gnomAD
rs1304532874
CA358300105
361 D>Y No ClinGen
TOPMed
CA3087530
rs772401643
362 S>G No ClinGen
ExAC
gnomAD
rs543847480
CA3087529
364 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1262576651
CA358300060
364 S>I No ClinGen
TOPMed
rs771258966
CA3087527
369 P>T No ClinGen
ExAC
gnomAD
rs927674021
CA106783795
372 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA358299950
rs1296025295
373 S>I No ClinGen
gnomAD
CA358299933
rs1383623169
374 T>S No ClinGen
TOPMed
gnomAD
CA358299927
rs1359345116
375 R>* No ClinGen
gnomAD
CA3087526
COSM1051490
rs748992099
COSM1051489
375 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752078744
CA3087523
377 R>K No ClinGen
ExAC
gnomAD
TCGA novel 377 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087522
rs781198593
380 F>I No ClinGen
ExAC
CA358299807
rs1194270588
384 N>D No ClinGen
gnomAD
CA358299804
rs754822482
384 N>S No ClinGen
ExAC
gnomAD
rs754822482
CA3087521
384 N>T No ClinGen
ExAC
gnomAD
CA3087519
rs766315463
385 L>V No ClinGen
ExAC
gnomAD
rs758244682
CA3087518
387 D>E No ClinGen
ExAC
gnomAD
TCGA novel 392 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1283278368
CA358299698
392 V>M No ClinGen
Ensembl
CA358299674
rs1208066267
394 R>G No ClinGen
gnomAD
rs1229284604
CA358299597
399 L>P No ClinGen
gnomAD
CA358299585
rs1452199941
400 Q>R No ClinGen
TOPMed
COSM3736335
CA358299576
rs1277229372
COSM3736336
401 Q>E skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs768104844
CA3087513
406 I>T No ClinGen
ExAC
gnomAD
rs1452404543
CA358299489
407 Y>H No ClinGen
TOPMed
rs376719219
CA358299414
411 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771346661
CA3087510
412 F>L No ClinGen
ExAC
gnomAD
CA358299391
rs1327014990
413 A>S No ClinGen
TOPMed
rs749644943
CA3087509
415 S>N No ClinGen
ExAC
gnomAD
rs772852163
CA3087508
417 N>S No ClinGen
ExAC
gnomAD
rs1421909111
CA358299281
420 D>N No ClinGen
gnomAD
CA3087495
rs759652916
423 V>A No ClinGen
ExAC
gnomAD
COSM732524
CA3087494
COSM732525
rs774908991
426 R>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1048203850
CA106783190
427 P>S No ClinGen
Ensembl
rs1482137588
CA358298969
429 S>C No ClinGen
TOPMed
CA358298904
rs772557369
431 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs772557369
CA3087491
431 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA358298906
rs772557369
431 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3087490
rs769515705
433 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1203987696
CA358298817
433 S>C No ClinGen
gnomAD
CA106783162
rs927850191
435 P>S No ClinGen
TOPMed
rs768107850
CA3087487
436 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA3087486
rs746454480
438 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA3087485
rs780154379
439 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA3087483
rs745690954
440 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs745690954
CA358298562
440 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs778616440
CA3087482
441 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1578833267
CA358298546
441 S>P No ClinGen
Ensembl
rs1361235854
CA358298532
442 D>N No ClinGen
gnomAD
CA3087480
rs752924832
443 A>T No ClinGen
ExAC
gnomAD
CA358298489
rs1228576718
444 D>Y No ClinGen
TOPMed
CA358298468
rs1297227211
445 G>E No ClinGen
TOPMed
rs1340319797
CA358298457
446 E>K No ClinGen
TOPMed
CA3087479
COSM1051485
rs781475633
COSM1051486
447 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866514499
CA106783118
447 R>H No ClinGen
TOPMed
gnomAD
rs866514499
CA106783114
447 R>L No ClinGen
TOPMed
gnomAD
rs1437752880
CA358298291
454 N>K No ClinGen
gnomAD
rs1379569823
CA358298284
455 S>G No ClinGen
gnomAD
rs867457696
CA106783107
455 S>N No ClinGen
Ensembl
CA3087476
rs766891520
456 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1245906278
CA358298206
458 T>K No ClinGen
TOPMed
rs368726894
CA3087475
462 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087474
rs750896783
464 M>V No ClinGen
ExAC
gnomAD
CA358298035
rs1285769742
466 M>I No ClinGen
gnomAD
rs1213743247
CA358298013
467 Y>C No ClinGen
gnomAD
rs376582232
CA3087472
468 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748575599
CA3087473
468 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA358297988
rs1381875718
469 R>Q No ClinGen
TOPMed
gnomAD
rs776212932
CA3087471
469 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA3087470
rs768297413
470 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA106783080
rs763242846
470 R>W Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358297964
rs1578833182
471 S>A No ClinGen
Ensembl
rs760284706
CA3087469
471 S>F No ClinGen
ExAC
gnomAD
rs371585876
CA358297937
473 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087468
rs371585876
473 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087467
rs371585876
473 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1263405336
CA358297870
476 N>T No ClinGen
gnomAD
CA3087465
rs368144546
477 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087464
rs368144546
477 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs958777858
CA106783047
478 K>Q No ClinGen
Ensembl
CA358296566
rs1186950841
480 A>T No ClinGen
TOPMed
TCGA novel 480 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358296559
rs1255118779
481 K>E No ClinGen
TOPMed
CA3087443
rs777581615
481 K>R No ClinGen
ExAC
gnomAD
CA3087442
rs759927679
487 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1303788340
CA358296504
488 A>V No ClinGen
gnomAD
CA358296469
rs1190694195
490 K>N No ClinGen
TOPMed
CA106782674
rs996317584
491 I>M No ClinGen
Ensembl
CA358296465
rs1317462455
491 I>V No ClinGen
gnomAD
rs1423065322
CA358296396
494 A>V No ClinGen
TOPMed
CA3087438
rs745893041
500 I>T No ClinGen
ExAC
gnomAD
CA3087439
rs758540999
500 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA358296265
rs1327585734
502 M>L No ClinGen
TOPMed
rs374467842
CA3087436
502 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1328970840
CA358296243
503 Y>C No ClinGen
gnomAD
CA3087435
rs371092142
504 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764603749
CA3087434
COSM1051479
COSM1051480
504 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358296222
rs1431000291
505 T>K No ClinGen
gnomAD
rs756536667
CA3087433
505 T>S No ClinGen
ExAC
gnomAD
rs375586764
CA3087432
508 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370492021
CA3087429
509 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087430
rs759134525
509 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA358296145
rs1245074538
515 G>S No ClinGen
TOPMed
CA358296135
rs1212488837
516 I>T No ClinGen
gnomAD
CA3087425
rs769634349
517 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358296130
rs1473602681
517 P>S No ClinGen
TOPMed
CA358296100
rs1411146929
520 M>T No ClinGen
TOPMed
rs1471522831
CA358296082
COSM205383
521 R>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs775692577
CA3087423
521 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3087422
rs772233892
522 G>R No ClinGen
ExAC
gnomAD
rs893020328
CA106782551
523 E>* No ClinGen
Ensembl
rs1306846747
CA358296041
524 L>F No ClinGen
TOPMed
gnomAD
CA358296043
rs1306846747
524 L>V No ClinGen
TOPMed
gnomAD
CA358296021
rs1445706355
525 W>* No ClinGen
gnomAD
TCGA novel 529 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358309016
rs1266999123
531 A>S No ClinGen
gnomAD
TCGA novel 531 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087393
rs751280116
533 N>D No ClinGen
ExAC
gnomAD
CA106833342
rs766985680
533 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 534 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs183457610
CA3087391
538 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA106833321
rs267600024
539 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA3087390
rs267600024
539 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA3087389
rs765190840
541 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 544 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 548 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358308901
rs1578830019
548 K>T No ClinGen
Ensembl
CA3087385
rs760385434
550 M>I No ClinGen
ExAC
gnomAD
rs764010238
CA3087386
550 M>T No ClinGen
ExAC
gnomAD
rs753755477
CA3087387
550 M>V No ClinGen
ExAC
gnomAD
rs774641589
CA3087384
553 Y>H No ClinGen
ExAC
gnomAD
CA358308859
rs1578830009
554 N>S No ClinGen
Ensembl
CA358308848
rs763120709
556 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs763120709
CA3087382
556 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3087380
rs769959660
557 T>M No ClinGen
ExAC
gnomAD
CA106833261
rs1023430702
560 I>T No ClinGen
TOPMed
CA3087377
rs769129282
565 H>Y No ClinGen
ExAC
gnomAD
CA358308777
rs1220098926
566 R>H No ClinGen
TOPMed
gnomAD
rs1283748540
CA358308717
575 Q>P No ClinGen
TOPMed
CA358308689
rs1463614387
578 M>I No ClinGen
TOPMed
rs1215589039
CA358308687
579 G>C No ClinGen
TOPMed
TCGA novel 579 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358308666
rs1304100141
582 A>S No ClinGen
TOPMed
gnomAD
rs1304100141
CA358308668
582 A>T No ClinGen
TOPMed
gnomAD
CA358308634
rs1390537099
587 L>S No ClinGen
gnomAD
CA3087372
rs778444177
588 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3087371
rs756748132
589 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA3087369
rs763874280
593 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1478426991
CA358308597
593 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760535578
CA358308576
596 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA3087368
rs760535578
596 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 616 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA106831026
rs867147358
619 A>S No ClinGen
Ensembl
rs1242917608
CA358307963
624 V>M No ClinGen
gnomAD
CA106830999
rs199993313
626 L>F No ClinGen
Ensembl
rs1279325854
CA358307932
627 C>Y No ClinGen
gnomAD
CA358307924
rs1449053983
628 E>K No ClinGen
gnomAD
CA106830992
rs975972028
629 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM2153663
rs752645201
CA3087347
COSM2153662
629 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358307907
rs752645201
629 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1405341433
CA358307895
630 M>I No ClinGen
TOPMed
CA358307905
rs190961768
630 M>L No ClinGen
1000Genomes
ExAC
gnomAD
rs190961768
CA3087346
630 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA3087345
rs754804561
632 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1417772635
CA358307844
635 Y>* No ClinGen
gnomAD
rs1160451387
CA358307852
635 Y>H No ClinGen
gnomAD
rs1379468884
CA358307840
636 N>D No ClinGen
gnomAD
CA3087344
rs750738676
636 N>T No ClinGen
ExAC
gnomAD
rs1322388048
CA358307826
637 T>N No ClinGen
TOPMed
TCGA novel 641 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA106829484
rs565153478
651 E>* No ClinGen
1000Genomes
ExAC
gnomAD
rs1481052316
CA358307622
651 E>D No ClinGen
TOPMed
rs565153478
CA3087326
651 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs934498343
CA106829481
652 L>Q No ClinGen
TOPMed
CA106829480
rs867390488
654 R>Q No ClinGen
gnomAD
CA106829462
rs986900968
655 D>V No ClinGen
TOPMed
gnomAD
CA3087325
rs765577355
655 D>Y No ClinGen
ExAC
TOPMed
CA3087324
rs757514395
656 Y>H No ClinGen
ExAC
gnomAD
CA3087322
rs150181338
657 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1451050841
CA358307584
658 P>L No ClinGen
TOPMed
gnomAD
CA3087321
rs141110483
661 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3087317
rs774655451
662 D>G No ClinGen
ExAC
gnomAD
rs184355469
CA3087318
662 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs184355469
CA3087319
662 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358307523
rs1275409218
667 L>V No ClinGen
gnomAD
rs542809312
CA106829417
668 G>D No ClinGen
1000Genomes
gnomAD
rs371247680
CA3087315
669 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087311
rs781293234
677 W>* No ClinGen
ExAC
gnomAD
CA358307458
rs1283187473
678 F>I No ClinGen
TOPMed
rs1015843271
CA106829385
680 T>S No ClinGen
TOPMed
gnomAD
rs1198816840
CA358307362
691 A>E No ClinGen
TOPMed
rs1245348674
CA358307359
692 V>F No ClinGen
gnomAD
CA358307348
rs1213414731
694 V>I No ClinGen
gnomAD
rs780035392
CA3087308
697 C>R No ClinGen
ExAC
gnomAD
CA3087307
rs758254874
697 C>S No ClinGen
ExAC
gnomAD
CA358307316
TCGA novel
rs1196952441
698 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs1274304539
CA358307321
698 F>V No ClinGen
Ensembl
rs777983280
CA3087305
700 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA3087306
rs754074440
700 Y>H No ClinGen
ExAC
gnomAD
rs756159494
CA3087304
704 K>E No ClinGen
ExAC
gnomAD
CA106829336
rs372568648
705 V>L No ClinGen
ESP
TOPMed
gnomAD
rs761130496
CA3087303
706 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1447303367
CA358307255
707 F>L No ClinGen
gnomAD
rs768040607
CA3087302
715 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA3087301
rs760072987
717 N>S No ClinGen
ExAC
gnomAD
CA358307179
CA3087300
rs752034811
719 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA106829291
rs969696026
728 G>A No ClinGen
TOPMed
rs1416683418
CA358307111
729 E>* No ClinGen
gnomAD
rs1416683418
CA358307113
729 E>K No ClinGen
gnomAD
rs1393756170
CA358307100
730 A>V No ClinGen
TOPMed
gnomAD
CA358307095
rs1337447021
731 M>T No ClinGen
TOPMed
rs761253600
CA3087295
733 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358306920
rs1418740611
737 Y>C No ClinGen
TOPMed
gnomAD
CA3087284
rs779879877
737 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA3087283
rs755041811
739 D>G No ClinGen
ExAC
gnomAD
CA3087282
rs372704755
740 S>G No ClinGen
ESP
ExAC
TOPMed
rs1183799870
CA358306852
743 N>S No ClinGen
TOPMed
gnomAD
rs1484767368
CA358306846
744 K>E No ClinGen
gnomAD
rs763242643
CA3087280
746 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs745682577
CA106828904
747 T>I No ClinGen
TOPMed
gnomAD
rs750752303
CA3087279
748 L>P No ClinGen
ExAC
gnomAD
rs776400896
CA3087276
751 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1022656901
CA106828883
752 P>L No ClinGen
TOPMed
CA358306746
rs1314491050
753 H>Q No ClinGen
TOPMed
gnomAD
CA3087275
rs763763354
756 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA358306710
rs763763354
756 S>F No ClinGen
ExAC
TOPMed
gnomAD
COSM1240377
CA3087273
rs775579715
COSM1240376
760 D>N oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3087272
rs771994041
761 D>V No ClinGen
ExAC
gnomAD
rs745678037
CA3087271
762 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA358306621
rs774239522
764 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs774239522
CA3087270
764 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA358306608
rs199939470
766 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1369401383
CA358306604
766 P>L No ClinGen
gnomAD
CA3087269
rs199939470
766 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358306603
rs1167259343
767 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358306598
rs1474312470
767 E>V No ClinGen
gnomAD
rs1032038923
CA106828841
768 V>I No ClinGen
TOPMed
gnomAD
CA106828833
rs957752199
772 R>T No ClinGen
TOPMed
gnomAD
TCGA novel 773 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3087268
rs369268794
774 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13118702
VAR_052540
CA3087266
779 E>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779221674
CA3087242
780 K>R No ClinGen
ExAC
gnomAD
rs754205691
CA3087240
782 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3087236
rs368140121
785 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3087237
rs368140121
785 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370619288
CA3087238
785 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358305143
rs1180132787
786 A>S No ClinGen
gnomAD
rs751523316
CA3087234
786 A>V No ClinGen
ExAC
gnomAD
rs1285358592
CA358305138
787 D>N No ClinGen
TOPMed
rs766173824
CA3087233
787 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA358305125
rs1200494557
788 L>F No ClinGen
TOPMed
gnomAD
rs1283147064
CA358305092
793 R>G No ClinGen
gnomAD
CA358305090
rs1232724381
793 R>K No ClinGen
gnomAD
CA358305062
rs1347698602
796 Q>H No ClinGen
TOPMed
gnomAD
CA3087232
rs772953642
798 L>M No ClinGen
ExAC
gnomAD
rs772953642
CA3087231
798 L>V No ClinGen
ExAC
gnomAD
CA358305019
rs769548584
803 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs769548584
CA3087230
803 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1328305523
CA358305011
805 E>Q No ClinGen
gnomAD
CA3087228
rs775562664
808 T>A No ClinGen
ExAC
gnomAD
COSM1051467
rs772261587
COSM1051468
CA3087227
808 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200896917
CA3087225
810 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771524044
CA3087224
810 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs778329098
CA3087222
812 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA358304942
rs1361047700
814 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358304940
rs762920297
814 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3087215
rs762920297
814 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1398786857
COSM1618425
COSM1618426
CA358304938
815 T>A liver [Cosmic] No ClinGen
cosmic curated
gnomAD
CA358304935
rs1383955965
815 T>S No ClinGen
gnomAD
CA358304930
rs1389596821
816 I>N No ClinGen
gnomAD
rs1415037751
CA358304911
819 E>A No ClinGen
TOPMed
gnomAD
CA358304914
rs1473536586
819 E>K No ClinGen
gnomAD
rs750339862
CA3087214
820 T>I No ClinGen
ExAC
gnomAD
CA358304880
rs1218528590
824 I>V No ClinGen
gnomAD
rs774332873
CA3087208
830 L>F No ClinGen
ExAC
gnomAD
rs1467293658
CA358304816
831 Y>C No ClinGen
gnomAD
rs560331583
CA106812212
831 Y>H No ClinGen
1000Genomes
gnomAD
CA358304772
rs1271918640
835 K>R No ClinGen
gnomAD
rs371115071
CA3087193
836 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757892765
CA3087194
836 A>S No ClinGen
ExAC
gnomAD
rs1275252393
CA358303648
838 H>Y No ClinGen
gnomAD
rs1578815572
CA358303636
840 T>P No ClinGen
Ensembl
CA3087192
rs765092887
842 C>F No ClinGen
ExAC
rs753536091
CA3087190
846 G>R Variant assessed as Somatic; 4.717e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358303568
rs753536091
846 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA3087189
rs763916458
847 S>G No ClinGen
ExAC
gnomAD
CA358303552
rs1456163786
847 S>R No ClinGen
TOPMed
CA3087188
rs759724651
848 S>R No ClinGen
ExAC
gnomAD
CA358303526
rs774699875
849 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA3087184
rs770379695
850 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs563665831
CA3087186
850 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs563665831
CA358303523
850 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs563665831
COSM1427265
COSM1427264
CA3087185
850 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770379695
CA3087183
850 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA106808254
rs900762462
852 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs369151326
CA3087180
853 R>Q No ClinGen
ESP
ExAC
gnomAD
rs188270414
CA106808249
853 R>W No ClinGen
1000Genomes
TOPMed
gnomAD
rs746699516
CA3087179
854 H>R No ClinGen
ExAC
gnomAD
rs1279301784
CA358303479
855 D>A No ClinGen
gnomAD
rs771842940
CA3087177
855 D>E No ClinGen
ExAC
gnomAD
rs1306960416
CA358303482
855 D>N No ClinGen
gnomAD
CA3087176
rs745332462
857 S>C No ClinGen
ExAC
gnomAD
CA358303426
rs1375021552
860 Y>S No ClinGen
gnomAD
rs1578815493
CA358303408
862 E>G No ClinGen
Ensembl
CA917319638
rs1578815477
864 Y>* No ClinGen
Ensembl
CA358303384
rs1314099515
864 Y>C No ClinGen
gnomAD
CA3087174
rs757180833
865 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1051466
COSM1051465
rs753790959
CA3087173
865 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA106808223
rs75536765
866 I>T No ClinGen
Ensembl
CA3087172
rs763849980
868 F>S No ClinGen
ExAC
gnomAD
CA106808205
rs752966549
869 E>K No ClinGen
TOPMed
gnomAD
CA106808201
rs752966549
869 E>Q No ClinGen
TOPMed
gnomAD
CA106808191
rs1041486406
872 K>Q No ClinGen
Ensembl
rs1175677097
CA358303235
876 A>S No ClinGen
gnomAD
CA3087170
rs375019047
COSM263986
COSM263985
876 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763152237
CA3087168
883 C>R No ClinGen
ExAC
CA358303120
rs1484624106
883 C>Y No ClinGen
gnomAD
rs1578815433
CA358303068
886 H>Q No ClinGen
Ensembl
rs935238851
CA106808161
886 H>Y No ClinGen
TOPMed
rs762279606
CA3087165
889 V>A No ClinGen
ExAC
gnomAD
CA3087166
rs139278857
889 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747307501
CA3087162
892 S>F No ClinGen
ExAC
gnomAD
CA358302972
rs1402462741
893 R>C No ClinGen
TOPMed
rs775138026
CA3087161
COSM86797
893 R>H ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3087159
rs745489152
896 Q>R No ClinGen
ExAC
gnomAD
CA358302775
rs1347302064
903 D>E No ClinGen
gnomAD
CA3087157
rs770460701
904 S>F No ClinGen
ExAC
gnomAD
rs778442009
CA3087158
904 S>P No ClinGen
ExAC
gnomAD
rs184958035
CA3087156
906 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3087155
rs202037117
907 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755870465
CA3087154
909 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA358302664
rs1207725309
909 R>W No ClinGen
TOPMed
rs752495112
CA3087153
912 V>A No ClinGen
ExAC
gnomAD
rs780459007
CA3087152
914 G>R No ClinGen
ExAC
rs1333598888
CA358302095
917 A>V No ClinGen
gnomAD
rs1228807154
CA358302092
918 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs781185070
CA3087134
922 D>E No ClinGen
ExAC
gnomAD
CA3087133
rs754810759
925 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3087131
rs779126059
927 L>H No ClinGen
ExAC
gnomAD
CA3087130
rs757297581
928 K>R No ClinGen
ExAC
gnomAD
TCGA novel 929 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358302010
rs1463492094
930 L>R No ClinGen
gnomAD
CA358301987
rs1181060104
933 M>T No ClinGen
gnomAD
CA3087127
rs201815415
935 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1244462939
CA358301960
937 P>T No ClinGen
TOPMed
gnomAD
CA106803287
rs1015141660
940 S>F No ClinGen
Ensembl
rs1171466708
CA358301901
942 D>H No ClinGen
gnomAD
CA358301886
rs1578812635
943 Q>K No ClinGen
Ensembl
TCGA novel 946 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358301775
rs1364069000
950 F>L No ClinGen
gnomAD
CA358301748
rs1183522651
953 T>A No ClinGen
gnomAD
CA358301742
rs1416866213
953 T>I No ClinGen
gnomAD
rs199702384
CA106803255
956 F>V No ClinGen
1000Genomes
CA106803247
rs751600394
959 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs751600394
CA3087115
959 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1486257374
CA358301653
960 I>L No ClinGen
gnomAD
rs1486257374
CA358301652
960 I>V No ClinGen
gnomAD
rs866151497
CA106803238
962 P>L No ClinGen
Ensembl
TCGA novel 963 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358301614
rs1209231531
963 E>G No ClinGen
gnomAD
CA3087114
rs779027222
964 C>R No ClinGen
ExAC
gnomAD
rs1280416716
CA358301584
965 T>I No ClinGen
gnomAD
rs1241446564
CA358301565
967 V>I No ClinGen
gnomAD
CA3087093
rs771748228
979 D>N No ClinGen
ExAC
gnomAD
rs749590290
CA3087092
980 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA3087091
rs777904045
984 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA106800943
rs746789741
987 L>Q No ClinGen
Ensembl
rs781685018
CA3087088
988 K>M No ClinGen
ExAC
gnomAD
rs1472723358
CA358300809
989 P>L No ClinGen
gnomAD
rs1163407293
CA358300812
989 P>S No ClinGen
gnomAD
rs751990686
CA3087086
990 D>G No ClinGen
ExAC
gnomAD
rs755551583
CA3087087
990 D>H No ClinGen
ExAC
CA3087072
rs748335893
992 G>E No ClinGen
ExAC
gnomAD
CA358300771
COSM3775575
COSM3775576
rs781302004
993 K>N Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3087070
rs768608324
994 R>G No ClinGen
ExAC
gnomAD
CA3087069
rs560192007
994 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3087068
COSM1427260
rs780361680
COSM1427261
995 A>E Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1251250711
CA358300764
995 A>T No ClinGen
gnomAD
CA358300758
rs1438445962
996 N>D No ClinGen
gnomAD
rs945067426
CA106800732
997 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 997 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs901516659
CA106800731
998 Q>* No ClinGen
TOPMed
CA358300745
rs901516659
998 Q>E No ClinGen
TOPMed
rs1310340591
CA358300740
998 Q>H No ClinGen
gnomAD
CA358300744
rs1218566005
998 Q>P No ClinGen
gnomAD
TCGA novel 999 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756151069
CA3087066
1001 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199857278
CA3087065
1001 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3087067
rs756151069
1001 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA358300699
rs1341201122
1004 L>F No ClinGen
gnomAD
rs941702623
CA106800690
1007 W>C No ClinGen
Ensembl
CA358300671
rs1236069975
1009 P>T No ClinGen
gnomAD
rs1368279290
CA358300653
1011 N>S No ClinGen
gnomAD
rs888749555
CA106800684
1012 K>R No ClinGen
gnomAD
CA358300624
rs1355758678
1015 S>A No ClinGen
TOPMed
gnomAD
CA3087064
rs757012610
1017 N>I No ClinGen
ExAC
gnomAD
CA3087063
rs753526710
1018 A>E No ClinGen
ExAC
gnomAD
CA358300603
rs1428320101
1018 A>S No ClinGen
TOPMed
gnomAD
rs1174613199
CA358300589
1020 D>G No ClinGen
gnomAD
TCGA novel 1021 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763762877
CA3087062
1023 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3087061
rs541388520
1023 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs767711354
CA106800635
1024 L>V No ClinGen
gnomAD
rs746814496
CA106799471
1028 Q>* No ClinGen
Ensembl
rs528776115
CA3087042
1030 I>T No ClinGen
ExAC
gnomAD
rs1480496680
CA358300498
1031 E>G No ClinGen
TOPMed
rs1377447488
CA358300492
1032 L>Q No ClinGen
gnomAD
CA106799469
rs867131831
1034 K>N No ClinGen
gnomAD
CA358300469
rs1157188834
1035 T>I No ClinGen
gnomAD
CA358300462
rs1456831644
1036 M>I No ClinGen
gnomAD
CA358300451
rs1418658047
1038 N>D No ClinGen
gnomAD
CA358300434
rs1258733083
1040 F>I No ClinGen
TOPMed
rs759515368
CA3087039
1042 E>G No ClinGen
ExAC
gnomAD
rs1164844794
CA358300417
1042 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA358300411
rs1255254531
1043 D>N No ClinGen
gnomAD
CA3087037
rs60628862
1045 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1172064174
CA358300386
1046 E>G No ClinGen
TOPMed
rs1245879884
CA358300379
1047 Q>P No ClinGen
TOPMed
gnomAD
CA358300378
rs1245879884
1047 Q>R No ClinGen
TOPMed
gnomAD
CA106799417
rs1034662127
1049 L>R No ClinGen
TOPMed
rs4956462
CA106799408
1050 Y>F No ClinGen
Ensembl
rs1320400296
CA358300342
1052 A>V No ClinGen
TOPMed
gnomAD
CA3087034
rs760841047
1053 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA3087033
rs760841047
1053 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA358300329
rs1364506375
1055 A>S No ClinGen
gnomAD
rs1318862438
CA358300328
1055 A>V No ClinGen
gnomAD
rs1434559511
CA358300321
1056 V>A No ClinGen
gnomAD
rs1218137229
CA358300305
1059 L>I No ClinGen
gnomAD
CA3087028
COSM3696461
COSM3696460
rs771434410
1063 I>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3087029
rs774930950
1063 I>V No ClinGen
ExAC
gnomAD
CA106799305
rs1050011471
1064 G>A No ClinGen
Ensembl
rs1578810627
CA358300258
1066 V>G No ClinGen
Ensembl
rs1187551771
CA358300255
1067 G>S No ClinGen
gnomAD
CA358300248
rs1394614338
1068 K>T No ClinGen
gnomAD
rs1254366842
CA358300225
1071 V>A No ClinGen
gnomAD
CA3087024
rs777508117
1071 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs755758044
CA3087023
1072 A>S No ClinGen
ExAC
gnomAD
rs1303880851
CA358300200
1074 P>R No ClinGen
gnomAD
CA3087022
rs747811519
1075 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs561011389
CA3087020
1077 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs781243592
CA106799231
1078 G>S No ClinGen
Ensembl
rs1187726817
CA358300138
1079 G>E No ClinGen
TOPMed
CA3087017
rs201150614
1079 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358300124
rs1305872366
1080 S>N No ClinGen
gnomAD
rs750146805
CA3087016
1081 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1041023252
CA106799213
1082 G>C No ClinGen
TOPMed
CA358300109
rs1041023252
1082 G>S No ClinGen
TOPMed
CA358300103
rs1398789936
1082 G>V No ClinGen
gnomAD
rs765052669
CA3087015
1084 G>V No ClinGen
ExAC
gnomAD
rs1368494936
CA358300065
1085 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1368494936
CA358300067
1085 P>R No ClinGen
TOPMed
gnomAD
CA3087010
rs775020842
1087 C>* No ClinGen
ExAC
gnomAD
CA3087012
rs767498061
1087 C>R No ClinGen
ExAC
gnomAD
CA3087011
rs759630235
1087 C>Y No ClinGen
ExAC
gnomAD
rs771520240
CA3087009
1090 G>V No ClinGen
ExAC
gnomAD
CA3087007
rs773494847
1091 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA106799141
rs911504401
1092 P>L No ClinGen
TOPMed
COSM1228618
COSM1228619
rs368519500
CA3087003
1094 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1412779698
CA358299919
1097 P>R No ClinGen
gnomAD
rs779998118
CA3087001
1097 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs554069158
CA106799082
1098 K>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs1449190831
CA358299880
1100 G>E No ClinGen
TOPMed
rs1411616246
CA358299849
1102 G>D No ClinGen
TOPMed
gnomAD
rs1411616246
CA358299851
1102 G>V No ClinGen
TOPMed
gnomAD
rs545624117
COSM170702
CA3086998
1106 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA3086997
rs757008202
1107 V>L No ClinGen
ExAC
gnomAD
rs1465180652
CA358299761
1109 S>F No ClinGen
gnomAD
rs759720046
CA106799034
1112 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA106799022
rs113106660
1112 P>H No ClinGen
gnomAD
CA3086995
rs759720046
1112 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA3086994
rs759720046
1112 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1113 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3086993
COSM1267485
COSM1267484
rs199802386
1114 P>L Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358299707
rs1402311604
1114 P>S No ClinGen
TOPMed
CA106798981
rs961740483
1116 S>C No ClinGen
TOPMed
rs556918450
CA106798980
1116 S>I No ClinGen
1000Genomes
CA358299667
rs1578810462
1117 L>R No ClinGen
Ensembl
TCGA novel 1118 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358299645
rs1486208203
1119 P>L No ClinGen
gnomAD
CA3086990
rs773762783
1120 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA358299626
rs1458299714
1121 S>G No ClinGen
gnomAD
rs762182642
CA3086988
1122 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1284247705
CA358299573
1124 H>R No ClinGen
TOPMed
CA358299577
rs1222559236
1124 H>Y No ClinGen
TOPMed
TCGA novel 1126 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746633610
CA3086985
1132 D>N No ClinGen
ExAC
gnomAD
rs779590610
CA3086984
1133 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA3086983
rs771559433
1136 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3086981
rs757023696
1139 S>L No ClinGen
ExAC
gnomAD
rs757023696
CA3086980
1139 S>W No ClinGen
ExAC
gnomAD
CA3086978
rs777676054
1140 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA358299357
rs1159096769
1141 R>G No ClinGen
gnomAD
CA358299353
rs1321417368
1141 R>Q No ClinGen
gnomAD
CA358299301
rs1578810403
1144 G>R No ClinGen
Ensembl
CA3086977
rs755296381
1145 A>T No ClinGen
ExAC
gnomAD
CA358299258
rs1560862735
1146 C>S No ClinGen
Ensembl
CA358299234
rs1471074552
1147 S>C No ClinGen
TOPMed
CA3086976
rs751814937
1150 L>Q No ClinGen
ExAC
gnomAD
rs1262760089
CA358299137
1154 D>Y No ClinGen
gnomAD
CA106798881
rs1001852677
1158 D>G No ClinGen
TOPMed
rs1463604255
CA358299075
1158 D>Y No ClinGen
gnomAD
CA3086973
rs750910073
1159 D>G No ClinGen
ExAC
gnomAD
rs1358436068
CA358298998
1160 S>I No ClinGen
gnomAD
TCGA novel 1161 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1243868629
CA358298987
1161 S>T No ClinGen
gnomAD
rs1326801603
CA358298981
1161 S>Y No ClinGen
gnomAD
CA3086972
rs765729926
1166 S>L No ClinGen
ExAC
CA358298870
rs1230431177
1167 V>L No ClinGen
gnomAD
rs1387309694
CA358298814
1170 A>T No ClinGen
gnomAD
rs370733648
CA3086969
1171 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777021000
CA3086970
1171 G>S No ClinGen
ExAC
gnomAD
rs760379829
CA3086968
1172 S>F No ClinGen
ExAC
gnomAD
CA106798778
rs1006015580
1173 H>Q No ClinGen
TOPMed
gnomAD
rs775121658
CA3086967
1173 H>R No ClinGen
ExAC
gnomAD
rs888482138
CA106798774
1175 E>D No ClinGen
gnomAD
COSM732531
COSM732530
CA358298715
rs1332375592
1176 D>N lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA3086965
rs745333327
1178 L>V No ClinGen
ExAC
gnomAD
TCGA novel 1181 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1182 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358297556
rs1560862670
1183 I>V No ClinGen
Ensembl
rs778747040
CA3086964
1184 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1186 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1427255
COSM1427254
CA3086963
rs770941144
1187 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA3086960
rs755965461
1191 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM447415
rs777765891
COSM447416
CA3086961
1191 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1041662101
CA106798731
1193 G>S No ClinGen
gnomAD
CA3086959
rs201117117
1194 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA106798714
rs924741414
1195 G>D No ClinGen
Ensembl
CA3086958
rs780368911
1196 T>M No ClinGen
ExAC
gnomAD
rs750480494
CA3086956
1197 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA358297348
rs1274437185
1198 A>V No ClinGen
TOPMed
rs1332032470
CA358297322
1200 P>L No ClinGen
TOPMed
CA106798690
rs946468469
1200 P>S No ClinGen
gnomAD
TCGA novel 1201 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765201350
CA3086955
1201 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1041510624
CA106798684
1201 R>W No ClinGen
TOPMed
gnomAD
rs1389848350
CA358297300
1202 S>N No ClinGen
TOPMed
gnomAD
rs373596451
CA3086954
1202 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1191991323
CA358297293
1202 S>R No ClinGen
TOPMed
gnomAD
rs1578810279
CA358297286
1203 T>P No ClinGen
Ensembl
CA358297261
rs1479051562
1204 S>I No ClinGen
gnomAD
rs1050049916
CA106798661
1205 L>P No ClinGen
TOPMed
gnomAD
CA3086952
rs764511217
1207 R>Q No ClinGen
ExAC
gnomAD
rs754331118
COSM1566997
CA3086953
COSM1566998
1207 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775144214
CA3086950
1208 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1578810262
CA358297169
1209 W>C No ClinGen
Ensembl
rs767156397
CA3086949
1210 A>T No ClinGen
ExAC
gnomAD
CA358297152
rs1461041154
1211 I>V No ClinGen
TOPMed
rs1168688020
CA358297134
1212 T>A No ClinGen
TOPMed
CA3086948
rs773956951
1212 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3086947
rs773956951
1212 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs369493037
CA3086946
1214 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358297076
rs1328539786
1215 Q>R No ClinGen
TOPMed
CA3086944
rs773213762
1220 L>F No ClinGen
ExAC
gnomAD
rs914934127
CA106798600
1223 E>D No ClinGen
gnomAD
rs747905504
CA3086942
1224 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs780458894
CA3086941
1224 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA358296945
rs1177073615
1225 A>P No ClinGen
gnomAD
CA358296947
rs1177073615
1225 A>T No ClinGen
gnomAD
CA106798584
COSM1051462
rs1037137575
COSM1051461
1225 A>V Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs758690641
CA3086940
1227 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs758690641
CA106798580
1227 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA3086939
rs746055586
1229 Y>C No ClinGen
ExAC
CA3086938
rs779107678
1233 P>T No ClinGen
ExAC
gnomAD
rs1190728259
CA358296824
1234 V>M No ClinGen
gnomAD
rs377665667
CA358296787
1236 M>L No ClinGen
ESP
TOPMed
gnomAD
CA106798559
rs992976953
1236 M>T No ClinGen
TOPMed
CA106798565
rs377665667
1236 M>V No ClinGen
ESP
TOPMed
gnomAD
CA358296748
rs1271941993
1240 I>M No ClinGen
TOPMed
CA3086936
rs754349502
1241 T>A No ClinGen
ExAC
gnomAD
rs369962064
CA3086935
1242 S>N No ClinGen
ESP
ExAC
gnomAD
CA358296739
rs369962064
1242 S>T No ClinGen
ESP
ExAC
gnomAD
CA3086932
rs767747261
1247 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358296705
rs1310032205
1247 R>W No ClinGen
TOPMed
gnomAD
rs982397974
CA106798523
1248 M>K No ClinGen
Ensembl
rs773870524
CA3086930
1249 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1290760501
CA358296671
1252 P>A No ClinGen
TOPMed
gnomAD
CA358296669
rs1308482897
1252 P>H No ClinGen
gnomAD
CA358296670
rs1290760501
1252 P>S No ClinGen
TOPMed
gnomAD
rs376554173
CA3086929
1253 L>F No ClinGen
ESP
ExAC
gnomAD
rs371556899
CA3086928
1254 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3086927
rs371556899
1254 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs566605542
CA3086926
1255 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs776538988
CA3086924
1257 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA3086922
rs770618530
1259 Y>C No ClinGen
ExAC
gnomAD
CA3086923
rs770618530
1259 Y>F No ClinGen
ExAC
gnomAD
TCGA novel 1262 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3086919
rs749324155
1264 M>V No ClinGen
ExAC
gnomAD
CA358296585
rs1183419053
1265 S>Y No ClinGen
gnomAD
rs372169353
CA3086917
1266 G>R No ClinGen
ESP
ExAC
gnomAD

No associated diseases with Q6ZT07

2 regional properties for Q6ZT07

Type Name Position InterPro Accession
conserved_site Syntaxin/epimorphin, conserved site 228 - 268 IPR006012
domain SNARE-complex protein Syntaxin-18, N-terminal 4 - 95 IPR019529

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

2 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

1 GO annotations of biological process

Name Definition
activation of GTPase activity Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0A087X1G2 TBC1D3K TBC1 domain family member 3K Homo sapiens (Human) PR
B9A6J9 TBC1D3L TBC1 domain family member 3L Homo sapiens (Human) PR
Q66K14 TBC1D9B TBC1 domain family member 9B Homo sapiens (Human) PR
Q9HA65 TBC1D17 TBC1 domain family member 17 Homo sapiens (Human) PR
Q6DHY5 TBC1D3G TBC1 domain family member 3G Homo sapiens (Human) PR
A0A087WVF3 TBC1D3D TBC1 domain family member 3D Homo sapiens (Human) PR
A0A087WXS9 TBC1D3I TBC1 domain family member 3I Homo sapiens (Human) PR
P0C7X1 TBC1D3H TBC1 domain family member 3H Homo sapiens (Human) PR
A0A087X179 TBC1D3E TBC1 domain family member 3E Homo sapiens (Human) PR
A6NDS4 TBC1D3B TBC1 domain family member 3B Homo sapiens (Human) PR
Q8WUA7 TBC1D22A TBC1 domain family member 22A Homo sapiens (Human) PR
Q8IZP1 TBC1D3 TBC1 domain family member 3 Homo sapiens (Human) PR
Q6IPX1 TBC1D3C TBC1 domain family member 3C Homo sapiens (Human) PR
A6NER0 TBC1D3F TBC1 domain family member 3F Homo sapiens (Human) PR
Q8IV04 TBC1D10C Carabin Homo sapiens (Human) PR
Q5TC63 GRTP1 Growth hormone-regulated TBC protein 1 Homo sapiens (Human) PR
O60343 TBC1D4 TBC1 domain family member 4 Homo sapiens (Human) PR
Q86TI0 TBC1D1 TBC1 domain family member 1 Homo sapiens (Human) PR
O60447 EVI5 Ecotropic viral integration site 5 protein homolog Homo sapiens (Human) PR
Q3MII6 TBC1D25 TBC1 domain family member 25 Homo sapiens (Human) PR
Q2NKQ1 SGSM1 Small G protein signaling modulator 1 Homo sapiens (Human) PR
Q8TC07 TBC1D15 TBC1 domain family member 15 Homo sapiens (Human) PR
O95759 TBC1D8 TBC1 domain family member 8 Homo sapiens (Human) PR
Q0IIM8 TBC1D8B TBC1 domain family member 8B Homo sapiens (Human) PR
Q8TEA7 TBCK TBC domain-containing protein kinase-like protein Homo sapiens (Human) PR
Q9UPU7 TBC1D2B TBC1 domain family member 2B Homo sapiens (Human) PR
A3KGB4 Tbc1d8b TBC1 domain family member 8B Mus musculus (Mouse) PR
Q9Z1A9 Tbc1d8 TBC1 domain family member 8 Mus musculus (Mouse) PR
Q3UYK3 Tbc1d9 TBC1 domain family member 9 Mus musculus (Mouse) PR
10 20 30 40 50 60
MWVNPEEVLL ANALWITERA NPYFILQRRK GHAGDGGGGG GLAGLLVGTL DVVLDSSARV
70 80 90 100 110 120
APYRILYQTP DSLVYWTIAC GGSRKEITEH WEWLEQNLLQ TLSIFENEND ITTFVRGKIQ
130 140 150 160 170 180
GIIAEYNKIN DVKEDDDTEK FKEAIVKFHR LFGMPEEEKL VNYYSCSYWK GKVPRQGWMY
190 200 210 220 230 240
LSINHLCFYS FLMGREAKLV IRWVDITQLE KNATLLLPDV IKVSTRSSEH FFSVFLNINE
250 260 270 280 290 300
TFKLMEQLAN IAMRQLLDNE GFEQDRSLPK LKRKSPKKVS ALKRDLDARA KSERYRALFR
310 320 330 340 350 360
LPKDEKLDGH TDCTLWTPFN KMHILGQMFV STNYICFTSK EENLCSLIIP LREVTIVEKA
370 380 390 400 410 420
DSSSVLPSPL SISTRNRMTF LFANLKDRDF LVQRISDFLQ QTTSKIYSDK EFAGSYNSSD
430 440 450 460 470 480
DEVYSRPSSL VSSSPQRSTS SDADGERQFN LNGNSVPTAT QTLMTMYRRR SPEEFNPKLA
490 500 510 520 530 540
KEFLKEQAWK IHFAEYGQGI CMYRTEKTRE LVLKGIPESM RGELWLLLSG AINEKATHPG
550 560 570 580 590 600
YYEDLVEKSM GKYNLATEEI ERDLHRSLPE HPAFQNEMGI AALRRVLTAY AFRNPNIGYC
610 620 630 640 650 660
QAMNIVTSVL LLYAKEEEAF WLLVALCERM LPDYYNTRVV GALVDQGVFE ELARDYVPQL
670 680 690 700 710 720
YDCMQDLGVI STISLSWFLT LFLSVMPFES AVVVVDCFFY EGIKVIFQLA LAVLDANVDK
730 740 750 760 770 780
LLNCKDDGEA MTVLGRYLDS VTNKDSTLPP IPHLHSLLSD DVEPYPEVDI FRLIRTSYEK
790 800 810 820 830 840
FGTIRADLIE QMRFKQRLKV IQTLEDTTKR NVVRTIVTET SFTIDELEEL YALFKAEHLT
850 860 870 880 890 900
SCYWGGSSNA LDRHDPSLPY LEQYRIDFEQ FKGMFALLFP WACGTHSDVL ASRLFQLLDE
910 920 930 940 950 960
NGDSLINFRE FVSGLSAACH GDLTEKLKLL YKMHVLPEPS SDQDEPDSAF EATQYFFEDI
970 980 990 1000 1010 1020
TPECTHVVGL DSRSKQGADD GFVTVSLKPD KGKRANSQEN RNYLRLWTPE NKSKSKNAKD
1030 1040 1050 1060 1070 1080
LPKLNQGQFI ELCKTMYNMF SEDPNEQELY HATAAVTSLL LEIGEVGKLF VAQPAKEGGS
1090 1100 1110 1120 1130 1140
GGSGPSCHQG IPGVLFPKKG PGQPYVVESV EPLPASLAPD SEEHSLGGQM EDIKLEDSSP
1150 1160 1170 1180 1190 1200
RDNGACSSML ISDDDTKDDS SMSSYSVLSA GSHEEDKLHC EDIGEDTVLV RSGQGTAALP
1210 1220 1230 1240 1250 1260
RSTSLDRDWA ITFEQFLASL LTEPALVKYF DKPVCMMARI TSAKNIRMMG KPLTSASDYE
ISAMSG