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 Q9UPX0

Entry ID Method Resolution Chain Position Source
AF-Q9UPX0-F1 Predicted AlphaFoldDB

1203 variants for Q9UPX0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA383488761
rs1311667332
2 I>M No ClinGen
TOPMed
CA231289000
rs866519705
3 W>C No ClinGen
Ensembl
CA231288997
rs11600709
7 T>S No ClinGen
Ensembl
rs769753313
CA6369802
8 F>L No ClinGen
ExAC
gnomAD
CA6369801
rs747954751
13 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA383488688
rs1266692584
13 I>M No ClinGen
gnomAD
rs1463664991
CA383488687
14 G>S No ClinGen
TOPMed
rs534731750
CA6369800
15 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA383488675
rs1258941292
16 R>* No ClinGen
gnomAD
CA231288989
rs936337506
16 R>L No ClinGen
Ensembl
TCGA novel 16 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383488664
rs1248365838
18 L>F No ClinGen
TOPMed
rs1198308500
CA383488655
19 A>V No ClinGen
gnomAD
rs1316416179
CA383488654
20 A>T No ClinGen
gnomAD
rs1234547034
CA383488645
21 E>A No ClinGen
gnomAD
rs754906772
CA6369799
21 E>D No ClinGen
ExAC
gnomAD
rs1258170091
CA383488648
21 E>Q No ClinGen
gnomAD
rs866271734
CA231288986
22 G>C No ClinGen
Ensembl
CA6369769
rs370647370
23 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776590595
CA6369766
25 G>D No ClinGen
ExAC
gnomAD
CA383486831
rs763227181
25 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6369767
rs763227181
25 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA383486797
rs1267915537
26 L>Q No ClinGen
TOPMed
rs1483437539
CA383486793
27 R>* No ClinGen
gnomAD
rs1483437539
CA383486794
27 R>G No ClinGen
gnomAD
CA383486790
rs1236713916
27 R>Q No ClinGen
gnomAD
CA6369762
rs771888862
31 E>D No ClinGen
ExAC
gnomAD
CA6369763
rs569338296
31 E>K No ClinGen
ExAC
gnomAD
CA6369761
rs745394534
32 F>L No ClinGen
ExAC
gnomAD
CA231280814
rs973184712
33 V>M No ClinGen
TOPMed
gnomAD
CA6369760
rs778323736
34 T>M No ClinGen
ExAC
gnomAD
rs1312673504
CA383486680
35 A>S No ClinGen
TOPMed
gnomAD
CA383486682
rs1312673504
35 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 38 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383486617
rs1462607531
40 S>N No ClinGen
TOPMed
CA231280774
rs1015047602
41 V>M No ClinGen
Ensembl
rs1342968569
CA383486576
44 R>* No ClinGen
TOPMed
gnomAD
CA383486573
rs377720540
44 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377720540
CA6369756
44 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370921168
CA6369754
46 D>N No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA6369753
rs377626852
46 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6369751
rs766517121
47 V>M Variant assessed as Somatic; 0.0007014 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1215871399
CA383486499
49 H>Y No ClinGen
gnomAD
rs750712363
CA6369749
52 T>A No ClinGen
ExAC
gnomAD
rs369339794
CA383486458
52 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6369748
rs369339794
52 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760574260
CA6369747
55 P>S No ClinGen
ExAC
gnomAD
CA6369745
rs767491228
56 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA6369746
rs775086019
56 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs978200158
CA231280656
58 Y>C No ClinGen
TOPMed
TCGA novel 58 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565448676
CA383486384
59 V>I No ClinGen
Ensembl
CA6369743
rs774253587
60 V>I No ClinGen
ExAC
gnomAD
TCGA novel 62 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770472031
CA6369742
64 K>Q No ClinGen
ExAC
gnomAD
CA383486302
rs1458039694
64 K>R No ClinGen
gnomAD
CA383486280
rs1323017579
66 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779418793
CA383486270
67 V>F No ClinGen
gnomAD
rs779418793
CA231280605
67 V>I No ClinGen
gnomAD
rs1426679408
CA383486246
68 P>L No ClinGen
gnomAD
rs369053425
CA231280582
68 P>S No ClinGen
ESP
CA6369737
rs781372235
71 I>T No ClinGen
ExAC
gnomAD
CA383486203
rs1192996731
71 I>V No ClinGen
gnomAD
CA231280563
rs867050292
73 I>T No ClinGen
Ensembl
rs755531136
CA6369736
74 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA383486128
rs1591725142
77 Y>S No ClinGen
Ensembl
CA383486120
rs1591725139
78 Y>S No ClinGen
Ensembl
rs1304141127
CA383486110
79 P>L No ClinGen
TOPMed
gnomAD
rs1369676278
CA383486104
80 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767164731
CA383486095
82 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6369727
rs767164731
82 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1591725101
CA383486084
83 D>E No ClinGen
Ensembl
CA383486080
rs1400692699
84 P>S No ClinGen
gnomAD
CA231280511
rs902681377
87 A>S No ClinGen
Ensembl
rs1460342307
CA383486056
87 A>V No ClinGen
gnomAD
rs1333086571
CA383486003
89 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383486004
rs1158174189
89 R>W No ClinGen
TOPMed
gnomAD
rs1565447441
CA383485995
90 A>V No ClinGen
Ensembl
CA383485993
rs1468815225
91 S>G No ClinGen
gnomAD
CA383485978
rs1370502182
93 H>Y No ClinGen
gnomAD
rs768340005
CA383485958
95 K>N No ClinGen
ExAC
gnomAD
rs1041177681
CA231279006
96 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1256009640
CA383485948
97 S>Y No ClinGen
gnomAD
CA6369699
rs761133437
99 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA231279000
rs776113610
99 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs772734726
CA6369697
101 E>D No ClinGen
ExAC
gnomAD
CA6369698
rs775926992
101 E>G No ClinGen
ExAC
gnomAD
CA383485931
rs1282979373
101 E>K No ClinGen
gnomAD
rs201038366
CA6369696
103 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6369695
rs779449011
104 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs770987447
CA6369694
104 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1591724186
CA383485862
111 Y>D No ClinGen
Ensembl
rs756264444
CA6369691
112 E>K No ClinGen
ExAC
CA231278936
rs967999088
113 C>G No ClinGen
Ensembl
TCGA novel 114 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6369690
rs751389646
114 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6369689
rs779775527
115 V>L No ClinGen
ExAC
gnomAD
CA231278925
rs988072516
117 M>R No ClinGen
Ensembl
rs915103460
CA231278928
117 M>V No ClinGen
Ensembl
rs531377479
CA6369688
118 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750367616
CA6369687
119 D>N No ClinGen
ExAC
gnomAD
TCGA novel 121 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765216332
CA6369686
121 Q>H No ClinGen
ExAC
gnomAD
CA383485724
rs1416193470
124 T>P No ClinGen
gnomAD
CA383485684
rs1240943607
129 S>N No ClinGen
gnomAD
CA383485668
rs1591724136
131 V>G No ClinGen
Ensembl
CA383485664
rs1190395049
132 H>Y No ClinGen
gnomAD
rs1452891579
CA383485645
135 I>V No ClinGen
gnomAD
CA383485629
rs1332365234
137 A>S No ClinGen
gnomAD
CA383485630
rs1332365234
137 A>T No ClinGen
gnomAD
CA383485219
rs1416679830
140 T>I No ClinGen
gnomAD
rs1197545756
CA383485222
140 T>S No ClinGen
Ensembl
CA6369661
rs759835654
142 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6369660
rs774713364
142 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA6369659
rs766829684
145 P>L No ClinGen
ExAC
gnomAD
rs994379103
CA383485191
145 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs994379103
CA231273517
145 P>T No ClinGen
gnomAD
rs748221488
CA6369656
146 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA6369655
rs748221488
146 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA6369653
rs768807485
147 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs768807485
CA6369654
147 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs567657119
CA6369652
147 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
rs748943611 147 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA383485183
rs567657119
147 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
CA231273470
rs1019726655
149 I>V No ClinGen
Ensembl
TCGA novel 150 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757162308
CA6369649
151 A>G No ClinGen
ExAC
gnomAD
rs749292608
CA6369648
154 G>D No ClinGen
ExAC
gnomAD
rs755746293
CA6369646
155 G>V No ClinGen
ExAC
gnomAD
CA383485121
rs1224577107
156 S>I No ClinGen
TOPMed
gnomAD
rs752200759
CA6369645
157 I>V No ClinGen
ExAC
gnomAD
rs968400971
CA231273439
158 T>P No ClinGen
TOPMed
gnomAD
TCGA novel 168 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231273435
rs1020461247
170 I>T No ClinGen
TOPMed
gnomAD
CA231273431
rs767286232
172 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6369644
rs767286232
172 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1036334543
CA231273413
176 E>D No ClinGen
TOPMed
rs1043422140
CA231273419
176 E>G No ClinGen
Ensembl
VAR_076999
CA6369642
rs77432041
178 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA383484836
rs1418168726
179 L>V No ClinGen
gnomAD
CA6369635
rs768790374
181 G>A No ClinGen
ExAC
gnomAD
CA6369637
rs761894478
181 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6369636
rs768790374
181 G>V No ClinGen
ExAC
gnomAD
rs1291201881
CA383484814
183 S>G No ClinGen
TOPMed
CA6369634
rs760900317
183 S>I No ClinGen
ExAC
gnomAD
rs1163583218
CA383484657
188 V>L No ClinGen
TOPMed
gnomAD
rs1591720739
CA383484625
190 D>A No ClinGen
Ensembl
rs780960492
CA6369610
191 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs534012086
CA6369608
197 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6369606
rs757920233
198 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1427958198
CA383484573
199 S>G No ClinGen
gnomAD
rs751480908
CA231272971
199 S>I No ClinGen
Ensembl
rs779198889
CA6369604
200 R>Q No ClinGen
ExAC
gnomAD
rs750817042
CA6369605
200 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764502320
CA6369602
207 T>I No ClinGen
ExAC
gnomAD
rs764502320
CA6369601
207 T>N No ClinGen
ExAC
gnomAD
rs1469084493
CA383484521
207 T>P No ClinGen
gnomAD
rs764502320
CA383484518
207 T>S No ClinGen
ExAC
gnomAD
rs566589696
CA231272920
209 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
CA383484507
rs1212206028
209 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1181741080
CA383484500
210 A>V No ClinGen
gnomAD
CA231272917
rs980230298
215 G>E No ClinGen
TOPMed
CA383484456
rs1434114018
216 E>D No ClinGen
TOPMed
rs767814387
CA6369598
217 A>V No ClinGen
ExAC
gnomAD
rs774696069
CA6369596
218 V>G No ClinGen
ExAC
gnomAD
CA6369597
rs539597363
218 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs764109134
CA6369595
220 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 221 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383484422
rs1591720658
222 H>P No ClinGen
Ensembl
rs374705301
CA6369591
225 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771733376
CA6369589
226 Q>H No ClinGen
ExAC
gnomAD
CA383484396
rs1223690231
227 G>R No ClinGen
TOPMed
CA383484375
rs1354837763
228 P>L No ClinGen
gnomAD
CA383484376
rs1414117823
228 P>S No ClinGen
gnomAD
TCGA novel 230 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766714994
CA6369560
232 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA383484343
rs1332792411
233 S>F No ClinGen
TOPMed
rs758651233
CA6369559
233 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA6369558
rs753689646
234 P>S No ClinGen
ExAC
gnomAD
CA383484299
rs1235172280
240 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760484427
CA6369556
242 I>V No ClinGen
ExAC
rs767426835
CA6369554
251 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA6369553
rs759057342
254 A>V No ClinGen
ExAC
gnomAD
CA6369550
rs762566041
257 G>R No ClinGen
ExAC
gnomAD
CA6369548
rs770124838
262 T>I No ClinGen
ExAC
gnomAD
CA383483939
rs1271921419
265 W>C No ClinGen
gnomAD
rs1591719906
CA383483911
267 D>G No ClinGen
Ensembl
TCGA novel 268 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369063193
CA6369546
VAR_077000
268 E>K No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1180346565
CA383483861
270 V>I No ClinGen
TOPMed
rs780230762
CA6369543
271 Y>C No ClinGen
ExAC
gnomAD
rs1591719718
CA383483235
275 D>A No ClinGen
Ensembl
rs1375550934
CA383483242
275 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383483182
rs1172580423
CA383483179
279 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs1412418017
CA383483157
281 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 283 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749882974
CA6369515
292 R>L No ClinGen
ExAC
rs1249503464
CA383482930
292 R>W No ClinGen
gnomAD
TCGA novel 298 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761116943
CA6369510
302 T>P No ClinGen
ExAC
rs1310659739
CA383482637
303 C>Y No ClinGen
gnomAD
rs865926760
CA231271407
305 P>S No ClinGen
Ensembl
rs1304068599
CA383482510
308 S>N No ClinGen
TOPMed
gnomAD
rs1224659760
CA383482478
309 L>V No ClinGen
TOPMed
gnomAD
rs772569549
CA6369508
311 R>C No ClinGen
ExAC
gnomAD
CA6369507
rs371595541
311 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1311753687
CA383482384
313 P>H No ClinGen
gnomAD
CA383482352
rs1159448590
315 A>T No ClinGen
gnomAD
rs1287079601
CA383482313
316 S>L No ClinGen
TOPMed
CA383482284
rs1166948986
317 A>V No ClinGen
gnomAD
rs865930197
CA231271351
320 T>I No ClinGen
Ensembl
rs1482345173
CA383482221
321 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383482186
rs758317351
322 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 325 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383481463
rs1454953059
325 A>V No ClinGen
gnomAD
CA383481442
rs1371057521
326 R>H No ClinGen
TOPMed
CA383481418
rs1487063601
327 V>A No ClinGen
gnomAD
CA6369479
rs749360747
327 V>I No ClinGen
ExAC
TOPMed
TCGA novel 328 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231268367
rs1011942837
332 P>A No ClinGen
TOPMed
gnomAD
rs1252467371
CA383481226
332 P>R No ClinGen
gnomAD
CA383481230
rs1011942837
332 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 333 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746839644
CA6369476
336 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383481054
rs758104266
338 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6369474
rs758104266
338 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA6369473
rs745856262
340 I>N No ClinGen
ExAC
gnomAD
rs756885918
CA6369471
345 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6369470
rs753336790
345 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA6369469
rs777569629
347 P>R No ClinGen
ExAC
gnomAD
TCGA novel 350 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383480823
rs370753217
351 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 353 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6369465
rs546112408
356 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752170988
CA6369464
357 V>L No ClinGen
ExAC
gnomAD
CA6369463
rs766817947
359 W>* No ClinGen
ExAC
gnomAD
CA383480656
rs1368859731
363 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA383480645
rs1343851795
364 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6369460
rs770027773
364 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762145949
CA6369459
365 P>S No ClinGen
ExAC
gnomAD
CA6369458
rs201068678
367 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA231268208
rs890364981
367 Q>R No ClinGen
TOPMed
CA6369416
rs769551430
373 G>S No ClinGen
ExAC
gnomAD
rs747729889
CA6369415
375 T>N No ClinGen
ExAC
CA383480206
rs1397187948
383 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA231267708
rs769080055
383 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs768193104
CA6369412
388 T>A No ClinGen
ExAC
gnomAD
CA383479934
rs1565436108
391 A>S No ClinGen
Ensembl
rs1354572863
CA383479913
394 T>I No ClinGen
TOPMed
TCGA novel 396 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 402 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 402 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1179948032
CA383479855
403 L>V No ClinGen
TOPMed
CA383479800
rs1366316013
411 P>L No ClinGen
TOPMed
rs753973322
CA6369405
412 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383479782
rs1427030902
414 L>P No ClinGen
TOPMed
TCGA novel 415 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6369404
rs764128270
415 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA383479747
rs1333137874
418 D>A No ClinGen
gnomAD
rs1164465686
CA383479744
418 D>E No ClinGen
TOPMed
gnomAD
CA383479732
rs1412505262
420 P>H No ClinGen
TOPMed
gnomAD
rs1412505262
CA383479731
420 P>L No ClinGen
TOPMed
gnomAD
rs1412505262
CA383479733
420 P>R No ClinGen
TOPMed
gnomAD
TCGA novel 421 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775604395 421 Y>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6369373
rs759235034
423 T>M No ClinGen
ExAC
gnomAD
CA6369371
rs771265548
429 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA383479600
rs1440992717
435 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383479590
rs1270421560
436 R>Q No ClinGen
gnomAD
rs770385763
CA6369368
437 E>A No ClinGen
ExAC
gnomAD
CA383479570
rs1329058561
439 L>F No ClinGen
TOPMed
gnomAD
rs1229502334
CA383479543
441 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383479500
rs1283191535
443 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6369361
rs753598938
445 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs753598938
CA6369362
445 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA231267351
rs60185361
446 G>R No ClinGen
Ensembl
rs1263635847
CA383479364
451 V>F No ClinGen
TOPMed
gnomAD
rs1013203421
CA231267342
452 I>V No ClinGen
TOPMed
rs760553519
CA6369359
453 T>I No ClinGen
ExAC
gnomAD
TCGA novel 455 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383479055
rs1189486282
458 G>R No ClinGen
gnomAD
CA383478993
rs1421322052
461 S>I No ClinGen
TOPMed
TCGA novel 463 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754452742
CA6369335
463 S>R No ClinGen
ExAC
gnomAD
rs751042603
CA6369334
464 K>E No ClinGen
ExAC
gnomAD
rs1265429497
CA383478959
466 S>C No ClinGen
gnomAD
CA383478955
rs1218716136
466 S>R No ClinGen
gnomAD
rs1442012210
CA383478953
467 A>T No ClinGen
TOPMed
gnomAD
CA383478941
rs1343731607
469 P>T No ClinGen
gnomAD
CA383478920
rs1397229571
470 S>N No ClinGen
TOPMed
gnomAD
CA231266752
rs937884307
472 S>N No ClinGen
TOPMed
gnomAD
CA231266719
rs934532384
473 L>V No ClinGen
TOPMed
CA383478849
rs1280952945
476 R>C No ClinGen
TOPMed
CA6369330
rs765768154
476 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA383478835
rs1303128639
477 A>V No ClinGen
TOPMed
gnomAD
rs762257701
CA6369329
479 S>N No ClinGen
ExAC
gnomAD
rs1159135315
CA383478762
483 H>Y No ClinGen
gnomAD
rs536183899
CA6369327
485 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747087627
CA6369326
487 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6369325
rs775586659
489 V>D No ClinGen
ExAC
TOPMed
rs1591717346
CA383478635
491 T>P No ClinGen
Ensembl
rs746140469
CA6369323
492 N>S No ClinGen
ExAC
gnomAD
rs1468741985
CA383478591
493 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755959469
CA6369321
495 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1207027286
CA383478536
497 I>L No ClinGen
gnomAD
CA383478528
rs1178678105
497 I>M No ClinGen
gnomAD
CA383478507
rs1434170126
499 A>V No ClinGen
gnomAD
CA383478496
rs1328697509
500 S>N No ClinGen
gnomAD
rs933676801
CA231266656
501 T>I No ClinGen
Ensembl
rs1319767016
CA383478485
501 T>S No ClinGen
TOPMed
rs781141190
CA6369319
502 H>R No ClinGen
ExAC
rs757846727
CA6369316
505 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs757846727
CA6369315
505 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA383478423
rs1257439398
506 I>T No ClinGen
gnomAD
rs1339618438
CA383478429
506 I>V No ClinGen
gnomAD
CA6369312
rs754212212
507 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs754212212
CA6369311
507 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1468110951
CA383478353
508 T>I No ClinGen
gnomAD
rs1187734111
CA383478340
510 P>L No ClinGen
gnomAD
CA6369288
rs759615361
510 P>S No ClinGen
ExAC
gnomAD
CA383478332
rs1422878441
511 H>Q No ClinGen
gnomAD
CA6369287
rs553723993
512 A>T No ClinGen
1000Genomes
ExAC
CA6369286
rs757884632
513 P>L No ClinGen
ExAC
gnomAD
CA6369284
rs571405530
515 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745442843
CA231265221
516 V>I No ClinGen
gnomAD
rs780048209
CA6369281
517 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6369282
rs746726018
517 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs745391066
CA6369279
519 Q>E No ClinGen
ExAC
gnomAD
rs756792287
CA6369277
519 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs756792287
CA6369278
519 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1366400719
CA383478263
523 T>I No ClinGen
gnomAD
CA383478246
rs1446231751
526 N>S No ClinGen
TOPMed
gnomAD
CA6369276
rs753788252
CA6369274
527 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs753788252
CA6369275
527 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1006389234
CA231265165
528 S>C No ClinGen
TOPMed
rs768092855
CA6369272
531 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs755529980
CA6369271
534 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1190145060
CA383478171
538 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA231263317
rs886617015
542 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 543 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1190840879
CA383478136
543 V>I No ClinGen
gnomAD
TCGA novel 545 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1409953075
CA383478105
545 M>L No ClinGen
gnomAD
CA231261227
rs916382167
546 K>N No ClinGen
TOPMed
rs1326476694
CA383478087
547 R>Q No ClinGen
gnomAD
CA383478091
rs923705095
547 R>W No ClinGen
TOPMed
gnomAD
CA383478076
rs1415911264
549 Q>R No ClinGen
TOPMed
gnomAD
rs1425623511
CA383478062
551 G>W No ClinGen
gnomAD
rs978208347
CA231261212
552 P>S No ClinGen
Ensembl
rs1479412072
CA383478045
554 D>N No ClinGen
gnomAD
CA383478043
rs1479412072
554 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383478026
rs1414171001
556 L>P No ClinGen
gnomAD
CA383478021
rs1591715500
557 S>A No ClinGen
Ensembl
rs765515019
CA6369247
559 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA383478008
rs1275035657
559 P>S No ClinGen
TOPMed
CA383478005
rs1232478466
560 V>M No ClinGen
gnomAD
rs761987498
CA6369246
561 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1202725935
CA383477998
561 P>S No ClinGen
gnomAD
TCGA novel 563 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322004093
CA383477975
565 S>G No ClinGen
gnomAD
rs1290792526
CA383477969
565 S>R No ClinGen
TOPMed
gnomAD
CA231261171
rs767482819
CA6369244
566 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1416479189
CA383477968
566 W>R No ClinGen
TOPMed
rs1349355812
CA383477953
568 L>P No ClinGen
gnomAD
rs759391032
CA6369241
569 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs759391032
CA383477947
569 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA383477951
rs1277349289
569 V>M No ClinGen
gnomAD
CA383477943
rs1591715451
570 D>G No ClinGen
Ensembl
TCGA novel 570 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383477918
rs1460728422
574 P>A No ClinGen
TOPMed
CA383477917
rs1460728422
574 P>S No ClinGen
TOPMed
CA383477902
rs770923328
576 T>K No ClinGen
ExAC
gnomAD
rs770923328
CA6369239
576 T>R No ClinGen
ExAC
gnomAD
rs1457792941
CA383477895
577 A>V No ClinGen
gnomAD
rs1273100749
CA383477882
579 Q>R No ClinGen
gnomAD
rs747824828
CA6369235
582 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA383477862
rs747824828
582 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA383477851
rs1460281583
584 A>S No ClinGen
gnomAD
rs1272328329
CA383477849
584 A>V No ClinGen
gnomAD
rs1270519234
CA383477844
585 Q>* No ClinGen
gnomAD
TCGA novel 585 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1209921502
CA383477823
587 K>N No ClinGen
gnomAD
TCGA novel 589 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383477815
rs1315740284
589 G>R No ClinGen
gnomAD
rs780885348
CA383477807
590 T>I No ClinGen
ExAC
gnomAD
rs780885348
CA6369234
590 T>N No ClinGen
ExAC
gnomAD
CA231261121
rs1011852287
592 A>S No ClinGen
TOPMed
gnomAD
CA383477798
rs1011852287
592 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs892029496
CA231261115
592 A>V No ClinGen
TOPMed
gnomAD
CA383477789
rs1414799329
593 F>C No ClinGen
gnomAD
CA6369232
rs747309582
596 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA383477696
rs1353135417
605 P>R No ClinGen
gnomAD
rs1178788517
CA383477682
607 T>K No ClinGen
gnomAD
CA383477680
rs1456610239
608 T>A No ClinGen
TOPMed
CA6369195
rs371345554
608 T>S No ClinGen
ESP
ExAC
gnomAD
CA383477674
rs1429280982
609 P>S No ClinGen
gnomAD
TCGA novel 610 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383477658
rs1473311658
611 P>L No ClinGen
TOPMed
gnomAD
rs760357164
CA6369194
611 P>S No ClinGen
ExAC
gnomAD
rs1210627088
CA383477632
616 T>N No ClinGen
gnomAD
CA383477635
rs1591714805
616 T>P No ClinGen
Ensembl
TCGA novel 616 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383477627
rs1281344043
617 P>S No ClinGen
gnomAD
rs376472314
CA231259997
621 L>F No ClinGen
ESP
TOPMed
gnomAD
CA6369190
rs779291335
622 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA383477594
rs1371540466
622 I>T No ClinGen
gnomAD
rs779291335
CA383477597
622 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1304952286
CA383477580
624 N>S No ClinGen
gnomAD
TCGA novel 626 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749401029
CA383477568
626 T>I No ClinGen
ExAC
gnomAD
rs749401029
CA6369188
626 T>S No ClinGen
ExAC
gnomAD
CA6369187
rs369303772
629 G>R No ClinGen
ESP
ExAC
gnomAD
CA383477550
rs369303772
629 G>S No ClinGen
ESP
ExAC
gnomAD
rs1220406014
CA383477545
630 V>L No ClinGen
TOPMed
rs1363876985
CA383477538
631 L>F No ClinGen
gnomAD
rs781509519
CA6369184
633 S>F No ClinGen
ExAC
gnomAD
rs1460729525
CA383477504
636 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1331240078
CA383477494
638 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA231259918
rs992871087
639 N>K No ClinGen
Ensembl
rs1261383854
CA383477462
642 F>L No ClinGen
gnomAD
rs757272235
CA6369180
645 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6369179
rs753741145
646 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs958668813
CA231259890
646 R>H No ClinGen
gnomAD
CA6369178
rs763656344
648 I>F No ClinGen
ExAC
gnomAD
rs763656344
CA383477427
648 I>V No ClinGen
ExAC
gnomAD
CA383477414
rs1157458585
649 M>I No ClinGen
gnomAD
CA231259856
rs1033560351
651 F>L No ClinGen
gnomAD
rs1369797597
CA383477398
652 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs775133923
CA6369176
652 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs202174159
CA6369174
654 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6369173
rs202174159
654 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 656 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6369172
rs771177519
656 R>G No ClinGen
ExAC
gnomAD
rs749878076
CA6369171
656 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6369170
rs773841805
657 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs748173547
CA6369168
660 L>F No ClinGen
ExAC
gnomAD
CA6369166
rs755182166
661 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 662 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231259792
rs1004437425
662 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 663 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383477312
rs1228475345
665 P>R No ClinGen
TOPMed
CA383477316
rs1318280275
665 P>S No ClinGen
gnomAD
CA383477310
rs201122392
666 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201122392
CA6369162
666 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA231259745
rs1029799375
668 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 670 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs755622090
CA6369160
670 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs1383062099
CA383477246
675 D>G No ClinGen
gnomAD
CA231259731
rs999147308
675 D>N No ClinGen
TOPMed
rs1555089989
CA383477203
680 T>A No ClinGen
Ensembl
rs754434093
CA6369139
680 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 682 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343126073
CA383477167
684 F>L No ClinGen
gnomAD
CA6369136
rs763444651
685 R>P No ClinGen
ExAC
gnomAD
rs574990325
CA6369134
686 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs371652510
CA6369132
689 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383477137
rs1248833591
690 M>T No ClinGen
TOPMed
CA383477131
rs1591714233
691 Q>E No ClinGen
Ensembl
rs768834718
CA6369131
692 D>Y No ClinGen
ExAC
gnomAD
rs1175643435
CA383477106
694 I>M No ClinGen
gnomAD
TCGA novel 696 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383477061
rs117328238
700 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383477062
rs1424530165
700 I>S No ClinGen
TOPMed
CA383477060
rs1470628751
701 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA383477057
rs1409679667
701 A>V No ClinGen
TOPMed
rs201162330
CA6369125
703 V>I Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201162330
CA231258681
703 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748182427
CA6369124
706 T>P No ClinGen
ExAC
gnomAD
TCGA novel 707 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383476991
rs1431513307
709 F>L No ClinGen
gnomAD
rs779753579
CA6369102
710 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs779753579
CA231256926
710 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA383476985
rs1426766295
711 Q>* No ClinGen
gnomAD
rs1386142280
CA383476980
711 Q>H No ClinGen
gnomAD
CA383476973
rs1163300474
712 P>L No ClinGen
gnomAD
CA383476975
rs1163300474
712 P>Q No ClinGen
gnomAD
rs1422208702
CA383476957
715 T>A No ClinGen
gnomAD
rs199890945
CA6369098
715 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764681033
CA6369096
716 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1490405276
CA383476937
718 G>E No ClinGen
gnomAD
rs866031135
CA231256900
718 G>W No ClinGen
Ensembl
rs754028693
CA231256896
720 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs754028693
CA6369094
720 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA383476923
rs961821257
721 R>L No ClinGen
TOPMed
gnomAD
CA231256879
rs961821257
721 R>Q No ClinGen
TOPMed
gnomAD
CA231256886
rs971906069
721 R>W No ClinGen
TOPMed
gnomAD
rs759598930
CA383476921
722 P>A No ClinGen
ExAC
gnomAD
rs759598930
CA6369092
722 P>S No ClinGen
ExAC
gnomAD
CA6369091
rs548914129
728 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383476870
rs1366380840
731 I>V No ClinGen
gnomAD
TCGA novel 735 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs182679983
CA231256866
736 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TCGA novel 737 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761692468
CA6369089
738 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA383476796
rs1591713239
742 T>P No ClinGen
Ensembl
rs1171640888
CA383476793
742 T>S No ClinGen
TOPMed
gnomAD
CA383476783
rs1428427975
744 A>P No ClinGen
gnomAD
TCGA novel 745 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776341848
CA6369088
746 C>Y No ClinGen
ExAC
gnomAD
CA383476765
rs1200922842
747 F>L No ClinGen
TOPMed
gnomAD
CA383476764
rs1200922842
747 F>V No ClinGen
TOPMed
gnomAD
CA383476728
rs1480497743
752 R>C No ClinGen
gnomAD
CA6369087
rs768469068
752 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA383476713
rs1196857617
754 R>C No ClinGen
TOPMed
gnomAD
CA6369086
rs201409996
754 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383476709
rs1565427174
755 K>E No ClinGen
Ensembl
rs775559136
CA6369084
758 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs200622057
CA6369083
758 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200622057
CA383476685
758 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1406396885
CA383476683
759 K>E No ClinGen
TOPMed
CA383476680
rs1282810027
759 K>R No ClinGen
gnomAD
CA383476653
rs1489952469
761 D>A No ClinGen
TOPMed
rs1489952469
CA383476652
761 D>G No ClinGen
TOPMed
CA6369061
rs748959757
767 T>A No ClinGen
ExAC
gnomAD
CA383476551
rs781680563
776 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs781680563
CA6369057
776 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6369038
rs781574279
779 S>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA231254524
rs749780538
780 G>V No ClinGen
Ensembl
CA6369037
rs769001870
782 V>M No ClinGen
ExAC
gnomAD
rs902318396
CA231254505
784 P>R No ClinGen
Ensembl
rs376908469
CA6369035
788 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6369033
rs750480606
788 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750480606
CA231254473
788 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs376908469
CA6369034
788 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs947845439
CA231254468
789 T>M No ClinGen
TOPMed
TCGA novel 790 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1340650349
CA383476454
790 L>P No ClinGen
gnomAD
rs1251265858
CA383476451
791 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6369031
rs757605113
791 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6369030
rs754085054
792 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1329059136
CA383476441
793 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767488814
CA6369029
793 P>S No ClinGen
ExAC
gnomAD
rs1237279979
CA383476433
794 S>L No ClinGen
TOPMed
TCGA novel 795 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1168456709
CA383476415
797 S>F No ClinGen
gnomAD
rs1591712553
CA383476407
798 D>A No ClinGen
Ensembl
CA383476412
rs1431528857
798 D>N No ClinGen
gnomAD
rs772827129
CA6369024
799 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA383476386
rs1245251210
801 G>D No ClinGen
gnomAD
CA383476374
rs1198394019
803 P>A No ClinGen
TOPMed
rs764694587
CA6369023
803 P>L No ClinGen
ExAC
gnomAD
CA383476373
rs1198394019
803 P>S No ClinGen
TOPMed
rs775887861
CA383476368
804 A>E No ClinGen
ExAC
gnomAD
rs775887861
CA6369019
804 A>G No ClinGen
ExAC
gnomAD
rs769018429
CA6369020
804 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs769018429
CA383476370
804 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs769018429
CA383476369
804 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775887861
CA6369018
804 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 805 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383476367
rs1218169527
805 A>T No ClinGen
gnomAD
CA231254361
rs933079900
806 K>N No ClinGen
TOPMed
rs772586048
CA6369017
806 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA383476353
rs1280946855
807 R>K No ClinGen
gnomAD
CA6369016
rs746341697
808 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1555088671
CA383476346
808 M>L No ClinGen
Ensembl
CA6369014
rs757410424
810 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA383476332
rs1454510637
810 S>N No ClinGen
gnomAD
CA6369012
rs778084061
812 T>S No ClinGen
ExAC
gnomAD
rs373895799
CA6369011
813 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369340509
CA6369010
813 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373895799
CA383476316
813 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766065592
CA6369009
815 K>T No ClinGen
ExAC
gnomAD
TCGA novel 817 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231254269
rs940179777
818 S>A No ClinGen
Ensembl
rs1463019856
CA383476281
818 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 819 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1591712472
CA383476267
821 K>Q No ClinGen
Ensembl
rs934091585
CA231254266
821 K>R No ClinGen
Ensembl
rs776267595
CA6369004
825 R>G No ClinGen
ExAC
gnomAD
rs763692997
CA6369002
825 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6369003
rs776267595
825 R>W Variant assessed as Somatic; 4.964e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs975455776
CA231254231
826 A>P No ClinGen
TOPMed
gnomAD
rs975455776
CA231254221
826 A>S No ClinGen
TOPMed
gnomAD
rs760973291
CA6369001
827 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA383476232
rs1352619627
827 I>V No ClinGen
TOPMed
gnomAD
rs775975180
CA6369000
828 S>R No ClinGen
ExAC
gnomAD
CA383476216
rs1383377250
829 S>N No ClinGen
gnomAD
rs772295879
CA6368999
830 K>R No ClinGen
ExAC
gnomAD
CA383476192
rs1357513655
832 Y>C No ClinGen
gnomAD
rs746456964
CA6368998
832 Y>H No ClinGen
ExAC
gnomAD
CA6368996
rs771150072
834 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1591712432
CA383476171
835 A>D No ClinGen
Ensembl
CA383476169
rs1565425731
836 K>E No ClinGen
Ensembl
CA6368995
rs749314712
840 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA383476140
rs1565425704
840 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1243344964
CA383476134
841 A>P No ClinGen
gnomAD
rs1020769230
CA231254091
843 A>D No ClinGen
Ensembl
rs1013360632
CA231254085
844 T>I No ClinGen
gnomAD
CA6368993
rs756408207
844 T>P No ClinGen
ExAC
CA383476107
rs1215939866
845 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA383476083
rs1224388994
849 L>I No ClinGen
gnomAD
CA383476042
rs1591712390
855 D>A No ClinGen
Ensembl
CA383476045
rs1359895349
855 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 856 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231254056
rs1033824782
857 R>C No ClinGen
gnomAD
rs868608028
CA231254053
857 R>H No ClinGen
Ensembl
TCGA novel 858 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383476019
rs756787214
859 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs756787214
CA6368986
859 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1591712354
CA383476002
861 D>A No ClinGen
Ensembl
CA383476005
rs1340059836
861 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6368985
rs753291865
862 P>S No ClinGen
ExAC
gnomAD
rs763577077
CA6368983
863 A>T No ClinGen
ExAC
CA383475986
rs1164600920
864 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1186546008
CA383475976
865 M>K No ClinGen
gnomAD
rs1422336294
CA383475977
865 M>V No ClinGen
gnomAD
CA6368980
CA231254004
rs371884835
866 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA231254014
rs141682370
866 E>G No ClinGen
1000Genomes
CA383475970
rs1565425518
866 E>Q No ClinGen
Ensembl
CA383475965
rs1565425500
867 P>T No ClinGen
Ensembl
CA383475947
rs1490427931
870 K>E No ClinGen
gnomAD
CA6368977
rs374352863
870 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1309160212
CA383475940
871 S>G No ClinGen
gnomAD
CA6368976
rs575342239
872 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA383475928
rs1004492080
872 R>S No ClinGen
TOPMed
gnomAD
CA6368975
rs370337864
873 R>C Variant assessed as Somatic; 4.677e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA231253957
rs370337864
873 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6368974
rs769756373
873 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383475927
rs370337864
873 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383475919
rs368087626
874 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368973
rs748458206
874 I>V No ClinGen
ExAC
gnomAD
rs535240111
CA383475913
875 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs932943837
CA231253946
875 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs745618211
CA6368970
876 G>R No ClinGen
ExAC
gnomAD
rs1565425391
CA383475905
877 F>L No ClinGen
Ensembl
CA383475884
rs1464598002
880 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1420816204
CA383475879
880 A>V No ClinGen
TOPMed
gnomAD
CA6368967
rs753747605
881 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs936090495
CA231253915
883 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6368965
rs755568379
883 T>P No ClinGen
ExAC
gnomAD
CA6368962
CA6368961
rs751924626
885 M>I No ClinGen
ExAC
gnomAD
CA6368963
rs767013350
885 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA383475842
rs1591712249
886 Y>S No ClinGen
Ensembl
CA6368960
rs267602785
887 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 887 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383475827
rs1217766703
888 E>D No ClinGen
TOPMed
gnomAD
rs1200938554
CA383475830
888 E>K No ClinGen
TOPMed
CA6368959
rs377482045
888 E>V No ClinGen
ESP
ExAC
TOPMed
CA383475821
rs1591712242
889 F>S No ClinGen
Ensembl
CA6368958
rs374602069
890 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6368957
rs761729959
890 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6368956
rs761729959
890 R>L No ClinGen
ExAC
gnomAD
CA6368954
rs768708526
892 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA383475802
rs768708526
892 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA383475794
rs376960400
893 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770712994
CA6368951
894 E>K No ClinGen
ExAC
gnomAD
rs1173518943
CA383475773
896 N>I No ClinGen
gnomAD
rs777515658
CA6368949
897 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6368947
rs747571982
898 D>E No ClinGen
ExAC
gnomAD
rs755657014
CA6368948
898 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs780921757
CA6368946
899 P>S No ClinGen
ExAC
gnomAD
rs551872835
CA6368944
901 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6368945
rs551872835
901 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1208266423
CA383475743
902 P>S No ClinGen
gnomAD
CA6368942
rs758777564
903 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs1375263727
CA383475729
904 S>Y No ClinGen
gnomAD
CA231253786
rs960489906
905 V>G No ClinGen
Ensembl
TCGA novel 906 A>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231253769
rs765619970
907 A>S No ClinGen
ExAC
gnomAD
CA6368940
rs765619970
907 A>T No ClinGen
ExAC
gnomAD
rs776620314
CA6368938
908 L>V No ClinGen
ExAC
gnomAD
rs764207468
CA6368937
910 S>Y No ClinGen
ExAC
gnomAD
TCGA novel 911 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749016843
CA383475676
913 T>I No ClinGen
ExAC
TOPMed
rs1591712180
CA383475680
913 T>P No ClinGen
Ensembl
rs1591712180
CA383475678
913 T>S No ClinGen
Ensembl
rs749016843
CA6368933
913 T>S No ClinGen
ExAC
TOPMed
rs200136452
CA6368931
914 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368930
rs748096109
915 L>R No ClinGen
ExAC
gnomAD
rs1263623390
CA383475655
917 S>F No ClinGen
TOPMed
rs1255553093
CA383475659
917 S>P No ClinGen
gnomAD
CA6368929
rs780633188
918 S>G No ClinGen
ExAC
gnomAD
CA6368928
rs754522571
918 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6368927
rs746671161
919 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA383475641
rs1351964129
920 E>K No ClinGen
gnomAD
CA383475640
rs1351964129
920 E>Q No ClinGen
gnomAD
rs758861754
CA6368925
922 Y>S No ClinGen
ExAC
gnomAD
rs750701608
CA6368924
925 P>S No ClinGen
ExAC
gnomAD
rs1383440519
CA383475598
927 A>T No ClinGen
gnomAD
rs533134144
CA6368922
929 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA6368921
rs533134144
929 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA383475573
rs1417572236
930 P>L No ClinGen
TOPMed
gnomAD
rs1417572236
CA383475574
930 P>R No ClinGen
TOPMed
gnomAD
rs369321654
CA6368920
931 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383475571
rs763829457
931 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs763829457
CA6368918
931 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368919
rs369321654
931 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1457316216
CA383475561
933 Q>E No ClinGen
gnomAD
rs1158637791
CA383475555
933 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs551042626
CA383475551
934 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs551042626
CA6368917
934 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs375404016
CA6368916
935 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375404016
CA231253586
935 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373053404
CA6368913
935 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373053404
CA6368914
935 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373053404
CA6368915
935 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA231253524
rs1047657878
936 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6368909
rs779872070
938 E>Q No ClinGen
ExAC
gnomAD
rs771896150
CA6368908
939 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771896150
CA383475531
939 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs745498636
CA6368907
939 G>V No ClinGen
ExAC
gnomAD
rs1210867466
CA383475524
940 P>R No ClinGen
gnomAD
rs201878845
CA6368905
941 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383475514
rs1264236638
942 G>C No ClinGen
gnomAD
CA6368903
rs778188740
946 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368902
rs756219238
946 R>Q No ClinGen
ExAC
gnomAD
CA6368904
rs778188740
946 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1591712066
CA383475482
948 Q>K No ClinGen
Ensembl
CA383475475
rs1438593775
949 A>T No ClinGen
TOPMed
CA6368900
rs767563740
950 T>A No ClinGen
ExAC
gnomAD
rs368677086
CA6368899
950 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1323943798
CA383475462
951 G>D No ClinGen
gnomAD
CA383475457
rs1362771257
952 Q>* No ClinGen
TOPMed
gnomAD
CA6368897
rs764955623
954 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6368898
rs573512453
954 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA231253406
rs752645864
956 P>L No ClinGen
Ensembl
rs546570473
CA6368893
957 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs546570473
CA383475429
957 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6368894
rs564750590
957 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs546570473
CA383475428
957 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383475427
rs1379612607
958 P>A No ClinGen
gnomAD
CA6368892
rs775176299
959 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs745569337
CA6368891
959 R>P No ClinGen
ExAC
TOPMed
rs745569337
CA6368889
959 R>Q No ClinGen
ExAC
TOPMed
rs775176299
CA383475421
959 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368887
rs771206542
961 F>I No ClinGen
ExAC
gnomAD
CA383475403
rs749627499
962 H>P No ClinGen
ExAC
gnomAD
CA6368886
rs749627499
962 H>R No ClinGen
ExAC
gnomAD
rs1216307262
CA383475396
963 H>R No ClinGen
gnomAD
CA6368885
rs778276636
963 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA383475389
rs1215155783
964 G>D No ClinGen
TOPMed
CA6368884
rs756662862
964 G>S No ClinGen
ExAC
gnomAD
TCGA novel 966 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753172962
CA6368883
966 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1039873023
CA231253311
969 Y>C No ClinGen
Ensembl
CA6368882
rs781306282
970 L>F No ClinGen
ExAC
gnomAD
CA383475346
rs1330707769
971 S>R No ClinGen
gnomAD
rs866220109
CA231253300
972 S>N No ClinGen
gnomAD
rs866220109
CA383475335
972 S>T No ClinGen
gnomAD
rs755027167
CA6368881
974 S>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 977 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 977 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6368879
rs751732770
978 V>M No ClinGen
ExAC
gnomAD
rs1173392191
CA383475291
979 E>K No ClinGen
gnomAD
CA6368878
rs766581832
980 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383475282
rs1477856522
980 P>S No ClinGen
gnomAD
CA6368877
rs375067578
982 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383475268
rs375067578
982 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763945705
CA6368875
983 F>L No ClinGen
ExAC
gnomAD
rs760757168
CA6368874
984 Y>N No ClinGen
ExAC
CA6368872
rs374101848
CA383475253
985 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6368871
rs374101848
985 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383475231
rs1199510386
988 V>A No ClinGen
TOPMed
gnomAD
TCGA novel 989 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773909542
CA6368870
990 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs770569301
CA6368869
990 S>R No ClinGen
ExAC
gnomAD
rs773909542
CA383475220
990 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1376012250
CA383475215
991 P>L No ClinGen
gnomAD
CA6368868
rs574419265
991 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773607839
CA6368867
992 L>M No ClinGen
ExAC
gnomAD
CA6368866
rs770140795
992 L>P No ClinGen
ExAC
gnomAD
CA383475200
rs1360953499
994 S>T No ClinGen
gnomAD
rs1335009529
CA383475197
994 S>Y No ClinGen
gnomAD
rs1160772186
CA383475193
995 V>A No ClinGen
gnomAD
rs755042408
CA383475195
995 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs755042408
CA6368863
995 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368864
rs755042408
995 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6368862
rs747060683
997 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs779972982
CA6368861
997 S>L No ClinGen
ExAC
gnomAD
CA231253134
rs747060683
997 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs764035440
CA6368858
998 S>F No ClinGen
ExAC
gnomAD
CA6368859
rs750665355
998 S>P No ClinGen
ExAC
gnomAD
CA383475170
rs1186275167
999 P>L No ClinGen
TOPMed
gnomAD
rs752691103
CA6368856
1000 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA231253085
rs752691103
1000 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA383475169
rs752691103
1000 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1591711882
CA383475163
1001 L>Q No ClinGen
Ensembl
rs371141922
CA383475147
1004 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA231253047
rs926471951
1004 E>G No ClinGen
Ensembl
rs371141922
CA6368852
1004 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762662432
CA6368851
1005 G>W No ClinGen
ExAC
gnomAD
rs748472799
CA6368848
1009 H>Y No ClinGen
ExAC
gnomAD
rs377729899
CA6368847
1010 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368846
rs769251754
1012 I>V No ClinGen
ExAC
CA383475091
rs1407542741
1013 P>S No ClinGen
TOPMed
gnomAD
CA6368842
rs746108822
1014 E>G No ClinGen
ExAC
gnomAD
CA6368843
rs758391200
1014 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1264815887
CA383475074
1015 E>D No ClinGen
gnomAD
CA6368841
rs779212352
1016 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA6368839
rs752495171
1017 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA383475065
rs375653574
CA6368840
1017 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368837
rs370928243
1018 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555087963
CA383475051
1019 N>S No ClinGen
Ensembl
CA383475047
rs1349147053
1020 A>T No ClinGen
TOPMed
CA6368836
rs751449853
1020 A>V No ClinGen
ExAC
gnomAD
rs765973590
CA6368835
1023 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1023 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762381409
CA6368834
1024 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762381409
CA383475017
1024 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs772880801
CA383475010
1026 P>A No ClinGen
ExAC
gnomAD
rs772880801
CA6368833
1026 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1029 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1029 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383474989
rs1565424135
1029 Q>R No ClinGen
Ensembl
rs377154332
CA231252900
1030 T>A No ClinGen
ESP
gnomAD
rs1287461378
CA383474981
1030 T>I No ClinGen
gnomAD
CA6368832
rs570339893
1031 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1439075485
CA383474978
1031 P>S No ClinGen
TOPMed
gnomAD
CA6368831
rs761431935
1032 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA383474962
rs1477279695
1034 G>E No ClinGen
TOPMed
gnomAD
CA6368829
rs768894435
1034 G>R No ClinGen
ExAC
gnomAD
rs765281579
CA6368827
1035 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765281579
CA383474958
1035 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs372950944
CA6368826
1035 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1359636241
CA383474944
1037 P>L No ClinGen
TOPMed
rs998476048
CA231252823
1039 P>S No ClinGen
gnomAD
CA383474935
rs998476048
1039 P>T No ClinGen
gnomAD
CA6368823
rs771331934
1040 W>R No ClinGen
ExAC
gnomAD
rs749441174
CA6368822
1040 W>S No ClinGen
ExAC
gnomAD
rs1401113135
CA383474923
1041 G>S No ClinGen
TOPMed
CA383474918
rs1320082374
1041 G>V No ClinGen
TOPMed
rs754718181
CA6368821
1042 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs751518848
CA6368819
1042 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6368820
rs754718181
1042 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs189448957
CA6368818
1043 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1000341360
CA231252795
1045 F>S No ClinGen
TOPMed
CA6368814
rs199732960
1048 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375626015
CA6368816
CA383474881
1048 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199732960
CA6368815
1048 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383474878
rs1403149188
1049 G>R No ClinGen
gnomAD
rs1464678670 1050 L>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1050 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA231252728
rs879033911
1050 L>V No ClinGen
Ensembl
CA383474864
rs1397590941
1051 E>G No ClinGen
gnomAD
rs753417349
CA383474845
1054 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs753417349
CA383474844
1054 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA383474848
rs1177807243
1054 A>T No ClinGen
TOPMed
gnomAD
rs753417349
CA6368813
1054 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1212300949
CA383474843
1055 M>V No ClinGen
gnomAD
rs760885137
CA6368811
1056 M>I No ClinGen
ExAC
gnomAD
rs776097851
CA6368810
1057 F>S No ClinGen
ExAC
gnomAD
CA383474816
rs1457381154
1058 P>R No ClinGen
gnomAD
rs529303990
CA6368808
1058 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383474819
rs529303990
1058 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1249752779
CA383474813
1059 H>Y No ClinGen
gnomAD
rs1470484054
CA383474804
1060 Q>* No ClinGen
TOPMed
rs774614118
CA6368807
1061 L>P No ClinGen
ExAC
gnomAD
CA383474792
rs1300993550
1062 P>S No ClinGen
gnomAD
rs771129862
CA6368806
1063 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA383474780
rs1310634608
1064 C>Y No ClinGen
gnomAD
rs1239999799
CA383474771
1065 D>G No ClinGen
Ensembl
rs1249934534
CA383474774
1065 D>H No ClinGen
gnomAD
rs1445324912
CA383474759
1067 P>S No ClinGen
gnomAD
CA6368803
rs768526156
1068 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA383474739
rs1443889401
1070 L>V No ClinGen
TOPMed
CA6368801
rs779802045
1072 P>R No ClinGen
ExAC
gnomAD
rs1330125949
CA383474725
1072 P>S No ClinGen
TOPMed
rs1335630665
CA383474709
1074 A>V No ClinGen
TOPMed
rs527279278
CA383474708
1075 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778448330
CA6368798
1075 G>D No ClinGen
ExAC
gnomAD
rs527279278
CA383474707
1075 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6368799
rs527279278
1075 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1177922369
CA383474702
1076 L>F No ClinGen
gnomAD
TCGA novel 1077 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs187022741
CA383474691
1078 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1026565031
CA231252587
1078 R>Q No ClinGen
TOPMed
rs1483673764
CA383474280
1081 P>L No ClinGen
gnomAD
CA6368796
rs753530350
1081 P>S No ClinGen
ExAC
gnomAD
CA383474275
rs1255662762
1082 P>L No ClinGen
gnomAD
CA6368795
rs763616584
1083 T>N No ClinGen
ExAC
gnomAD
CA383474269
rs1591711599
1083 T>P No ClinGen
Ensembl
CA6368793
rs753055835
1084 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA383474252
rs753055835
1084 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1315704582
CA383474239
1085 L>P No ClinGen
gnomAD
CA383474218
rs1314215952
1087 V>L No ClinGen
gnomAD
CA383474202
rs1377936363
1088 P>L No ClinGen
TOPMed
gnomAD
CA383474207
rs1435312293
1088 P>S No ClinGen
TOPMed
gnomAD
rs1555087730
CA383474200
1089 A>T No ClinGen
Ensembl
rs372409061
CA6368790
1089 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368789
rs766582248
1090 A>S No ClinGen
ExAC
gnomAD
rs1373795982
CA383474166
1092 P>A No ClinGen
TOPMed
gnomAD
rs773503367
CA6368787
1092 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6368784
rs775326679
1093 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1330015129
CA383474156
1093 G>R No ClinGen
TOPMed
CA383474151
rs775326679
1093 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1186057428
CA383474150
1094 I>F No ClinGen
TOPMed
gnomAD
rs1489431908
CA383474146
1094 I>N No ClinGen
gnomAD
CA383474140
rs1414506189
1095 L>V No ClinGen
TOPMed
rs369696850
CA6368783
1096 S>F No ClinGen
ESP
ExAC
gnomAD
CA383474131
rs1294314200
1097 L>M No ClinGen
TOPMed
rs745816240
CA6368782
1099 A>T No ClinGen
ExAC
gnomAD
CA6368780
rs756826277
1100 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1103 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1320580602
CA383474080
1104 A>V No ClinGen
gnomAD
rs755766026
CA6368777
1107 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1107 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383474061
rs755766026
1107 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA231252464
rs768053252
1108 P>S No ClinGen
ExAC
gnomAD
CA6368775
rs768053252
1108 P>T No ClinGen
ExAC
gnomAD
rs752118754
CA6368773
1109 G>C No ClinGen
ExAC
gnomAD
CA383474049
rs1253951034
1110 R>K No ClinGen
TOPMed
rs763492394
CA6368771
1112 P>A No ClinGen
ExAC
gnomAD
rs1162927815
CA383474034
1112 P>L No ClinGen
gnomAD
CA383474035
rs1162927815
1112 P>R No ClinGen
gnomAD
TCGA novel 1113 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6368770
rs773204076
1113 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1424628684
CA383474027
1114 P>A No ClinGen
gnomAD
CA231252424
rs951105893
1114 P>L No ClinGen
Ensembl
CA6368768
rs201459911
1115 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA231252394
rs903398972
1116 P>L No ClinGen
TOPMed
gnomAD
CA6368767
rs564711822
1116 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383474017
rs564711822
1116 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6368765
rs546431558
1117 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs761970963
CA6368766
1117 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs761970963
CA383474014
1117 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1118 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769568183 1118 A>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs770826046
CA6368763
1118 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1277186397
CA383473996
1118 A>V No ClinGen
gnomAD
rs777219702
CA6368760
1119 A>T No ClinGen
ExAC
gnomAD
CA383473949
rs1301800106
1121 W>* No ClinGen
gnomAD
rs1301800106
CA383473946
1121 W>C No ClinGen
gnomAD
rs1392257124
CA383473914
1123 D>E No ClinGen
gnomAD
CA6368759
rs755636781
1123 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA383473888
rs1591711428
1125 P>L No ClinGen
Ensembl
rs747817264
CA6368758
1125 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA383473874
rs1474589352
1126 M>I No ClinGen
gnomAD
CA383473877
rs1167568155
1126 M>K No ClinGen
gnomAD
CA6368756
rs752018665
1126 M>L No ClinGen
ExAC
gnomAD
rs752018665
CA6368755
1126 M>V No ClinGen
ExAC
gnomAD
rs1211598893
CA383473844
1128 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA231252336
rs968825635
1130 V>I No ClinGen
Ensembl
TCGA novel 1132 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383473774
rs1200084172
1134 Q>K No ClinGen
gnomAD
CA383473745
rs1454182240
1136 R>* No ClinGen
gnomAD
rs758894455
CA6368753
1136 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs564028707
CA6368752
1138 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6368751
rs765242476
1139 S>C No ClinGen
ExAC
gnomAD
CA231252311
rs1010317378
1139 S>R No ClinGen
Ensembl
rs761812455
CA6368750
1140 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1460110476
CA383473677
1141 G>C No ClinGen
gnomAD
rs754087981
CA6368749
1141 G>D No ClinGen
ExAC
gnomAD
rs374679452
CA6368747
1142 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1417440920
CA383473674
1142 M>V No ClinGen
TOPMed
gnomAD
CA6368746
rs768912911
1143 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs941373502
CA231252252
1143 G>V No ClinGen
TOPMed
CA6368745
rs774175692
1145 P>A No ClinGen
ExAC
gnomAD
CA383473629
rs1174873309
1149 Y>F No ClinGen
TOPMed
rs773145029
CA6368742
1149 Y>N No ClinGen
ExAC
gnomAD
rs1404649700
CA383473626
1150 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383473617
rs1393750452
1151 E>G No ClinGen
gnomAD
rs768462205
CA6368738
1151 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA383473616
rs1393750452
1151 E>V No ClinGen
gnomAD
CA6368737
rs780340792
1152 P>L No ClinGen
ExAC
gnomAD
rs780340792
CA6368736
1152 P>R No ClinGen
ExAC
gnomAD
rs758727259
CA6368735
1153 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6368732
rs757348187
CA6368733
1154 E>D No ClinGen
ExAC
gnomAD
CA383473604
rs1179107864
1154 E>K No ClinGen
TOPMed
gnomAD
CA6368731
rs753970662
1155 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1240454427
CA383473597
1155 P>T No ClinGen
TOPMed
gnomAD
rs760958123
CA6368729
1156 G>E No ClinGen
ExAC
gnomAD
CA6368730
rs764131054
1156 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762354679
CA6368728
1157 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6368727
rs766100674
1157 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs769724847
CA6368724
1160 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs773056493
CA6368725
1160 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs1397376954
CA383473565
1161 P>S No ClinGen
TOPMed
rs376689431
CA6368723
1162 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277689504
CA383473556
1162 S>R No ClinGen
gnomAD
rs776345696
CA383473551
1163 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368722
rs776345696
1163 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA383473542
rs1591711284
1164 F>L No ClinGen
Ensembl
CA383473536
rs1420816001
1165 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA231252066
rs746669087
1168 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6368720
rs746669087
1168 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA6368718
rs772351117
1169 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA383473513
rs1441676096
1170 W>R No ClinGen
TOPMed
CA231252050
rs746193241
1171 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA6368717
rs746193241
1171 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA231252032
rs960274866
1172 E>Q No ClinGen
gnomAD
rs540773093
CA6368715
1174 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA383473476
rs1282071216
1175 P>L No ClinGen
gnomAD
CA6368711
rs1318554507
1176 R>Q No ClinGen
TOPMed
CA6368713
rs754341528
1176 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs377392273
CA6368710
1177 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1232865212
CA383473468
1177 P>S No ClinGen
gnomAD
CA383473463
rs1345045974
1178 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6368708
rs200424692
1178 R>W No ClinGen
ExAC
gnomAD
rs1316860653
CA383473461
1179 P>A No ClinGen
TOPMed
gnomAD
CA383473456
rs1214953829
1179 P>L No ClinGen
TOPMed
CA383473460
rs1316860653
1179 P>S No ClinGen
TOPMed
gnomAD
rs767740632
CA6368707
1180 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368706
rs375969844
1180 S>R No ClinGen
ESP
ExAC
gnomAD
rs112808434
CA231251897
1181 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383473447
rs1473994291
1181 P>L No ClinGen
TOPMed
gnomAD
CA6368705
rs112808434
1181 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383473445
rs765118637
1182 R>G No ClinGen
ExAC
gnomAD
rs199538394
CA6368703
1182 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199538394
CA6368702
RCV000947402
1182 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6368704
rs765118637
1182 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA383473440
rs1240202117
1183 Q>P No ClinGen
gnomAD
rs760188319
CA6368700
1184 A>T No ClinGen
ExAC
TOPMed
TCGA novel 1185 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771803823
CA6368697
1186 R>C No ClinGen
ExAC
gnomAD
CA6368696
rs745481927
1186 R>P No ClinGen
ExAC
gnomAD
CA383473418
rs1332898065
1187 A>P No ClinGen
TOPMed
gnomAD
CA383473419
rs1332898065
1187 A>T No ClinGen
TOPMed
gnomAD
rs749814162
CA6368693
1188 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs778186584
CA6368692
1189 P>R No ClinGen
ExAC
gnomAD
rs748211032
CA6368690
1192 H>Y No ClinGen
ExAC
gnomAD
CA383473353
rs1324590812
1197 Q>* No ClinGen
gnomAD
CA383473341
rs1565422500
1198 P>L No ClinGen
Ensembl
rs1459419981
CA383473336
1199 S>F No ClinGen
gnomAD
rs963709613
CA231251806
1200 R>G No ClinGen
gnomAD
rs755292812
CA6368688
1203 P>T No ClinGen
ExAC
gnomAD
CA6368687
rs751716378
1204 L>M No ClinGen
ExAC
gnomAD
rs765137222
CA6368686
1204 L>Q No ClinGen
ExAC
rs753853487
CA6368684
1205 T>I No ClinGen
ExAC
gnomAD
rs753853487
CA383473286
1205 T>N No ClinGen
ExAC
gnomAD
rs1467204761
CA383473262
1207 S>G No ClinGen
gnomAD
rs775107940
CA383473253
1207 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA6368682
rs760504221
1207 S>T No ClinGen
ExAC
gnomAD
CA383473238
rs1271264466
1208 P>L No ClinGen
TOPMed
gnomAD
CA6368680
rs766935698
1208 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs773939249
CA6368678
1209 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA383473230
rs1234828777
1209 L>H No ClinGen
TOPMed
rs1234828777
CA383473227
1209 L>R No ClinGen
TOPMed
CA383473217
rs1176931550
1210 S>T No ClinGen
Ensembl
rs1303331332
CA383473192
1212 R>C No ClinGen
gnomAD
CA383473189
rs749614349
1212 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6368677
rs749614349
1212 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6368676
rs749614349
1212 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs748596293
CA6368673
1214 G>A No ClinGen
ExAC
gnomAD
rs748596293
CA383473166
1214 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA383473174
rs1298295202
1214 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6368672
rs781389593
1216 P>S No ClinGen
ExAC
gnomAD
rs373498738
CA231251706
1218 L>I No ClinGen
ESP
TOPMed
gnomAD
rs757136967
CA6368668
1219 A>D No ClinGen
ExAC
gnomAD
CA6368670
rs201329176
1219 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201329176
CA6368669
1219 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368666
rs375449983
1221 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375449983
CA383473089
1221 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368665
rs756144830
1222 A>T No ClinGen
ExAC
gnomAD
CA383473070
rs1231402929
1223 R>L No ClinGen
gnomAD
rs752565096
CA6368664
1223 R>W No ClinGen
ExAC
gnomAD
CA6368663
rs767068283
1225 R>C Variant assessed as Somatic; 0.0001067 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6368661
rs751248589
1226 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs758904382
CA383473040
1226 P>S No ClinGen
ExAC
gnomAD
CA6368662
rs758904382
1226 P>T No ClinGen
ExAC
gnomAD
CA383473029
rs1390343439
1227 G>S No ClinGen
gnomAD
CA231251662
rs568490682
1227 G>V No ClinGen
1000Genomes
TOPMed
rs546771674
CA6368658
1228 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1230 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421417579
CA383472963
1232 A>G No ClinGen
gnomAD
CA6368657
rs770038853
1232 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA383472945
rs1364345285
1233 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6368655
rs776931813
1234 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs762392907
CA6368656
1234 M>K No ClinGen
ExAC
gnomAD
rs1159839709
CA383472942
1234 M>V No ClinGen
gnomAD
CA383472922
rs1183817278
1235 S>L No ClinGen
TOPMed
gnomAD
CA383472905
rs115902430
1236 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1257233478
CA383472886
1238 T>A No ClinGen
gnomAD
rs1257233478
CA383472887
1238 T>P No ClinGen
gnomAD
rs747036872
CA383472869
1239 L>P No ClinGen
ExAC
gnomAD
rs747036872
CA6368653
1239 L>R No ClinGen
ExAC
gnomAD
rs772461441
CA6368651
1240 Q>R No ClinGen
ExAC
gnomAD
CA383472844
rs1237631294
1241 P>L No ClinGen
TOPMed
gnomAD
rs1344850675
CA383472837
1242 P>A No ClinGen
TOPMed
CA6368647
rs376944502
1242 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6368648
rs376944502
1242 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6368646
rs376944502
1242 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383472826
rs1233490902
1243 A>T No ClinGen
gnomAD
CA383472804
rs1434475085
1244 A>E No ClinGen
TOPMed
gnomAD
CA383472781
rs1354479715
1246 S>N No ClinGen
gnomAD
rs754543423
CA6368645
1246 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA6368644
rs751122021
1248 S>P No ClinGen
ExAC
TOPMed
TCGA novel 1249 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765847381
CA6368643
1249 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1288204109
CA383472718
1251 S>C No ClinGen
gnomAD
CA6368641
rs750016443
1252 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA231251535
rs371578487
1253 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371578487
CA6368639
1253 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368637
rs761231557
1254 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs761231557
CA6368636
1254 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA383472682
rs1565421954
1255 T>A No ClinGen
Ensembl
rs775777649
CA6368635
1255 T>R No ClinGen
ExAC
gnomAD
rs772266406
CA6368634
1258 P>H No ClinGen
ExAC
gnomAD
TCGA novel 1258 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1259 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266673098
CA383472637
1259 S>P No ClinGen
gnomAD
CA6368630
rs747853490
1261 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA383472573
rs1368225372
1263 R>C No ClinGen
TOPMed
TCGA novel 1263 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1232714871
CA383472567
1263 R>L No ClinGen
TOPMed
rs781022196
CA6368629
1265 G>E No ClinGen
ExAC
gnomAD
TCGA novel 1267 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383472523
rs1380439609
1268 S>N No ClinGen
gnomAD
rs1380439609
CA383472522
1268 S>T No ClinGen
gnomAD
rs563810272
CA6368625
1270 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs563810272
CA6368626
1270 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746947924
CA6368627
1270 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA6368624
rs542535431
1271 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383472502
rs1046946851
1272 A>S No ClinGen
gnomAD
rs1046946851
CA231251429
1272 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383472496
rs1373963915
1273 M>K No ClinGen
TOPMed
gnomAD
rs1373963915
CA383472495
1273 M>T No ClinGen
TOPMed
gnomAD
rs756910350
CA6368622
1273 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1346837415
CA383472488
1274 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1192979733
CA383472487
1274 G>D No ClinGen
gnomAD
rs529654411
CA6368621
1276 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383472472
rs529654411
1276 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1015814428
CA383472471
1277 T>A No ClinGen
TOPMed
gnomAD
rs200373794
CA231251398
1277 T>I No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA231251414
rs1015814428
1277 T>P No ClinGen
TOPMed
gnomAD
rs200373794
CA6368619
1277 T>S No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs148045307
RCV000947401
CA6368617
1279 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA383472453
rs1439457646
1280 T>I No ClinGen
TOPMed
CA6368616
rs776084206
1281 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA383472452
rs776084206
1281 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA383472451
rs776084206
1281 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs759648681
CA6368614
1282 Y>* No ClinGen
ExAC
gnomAD
CA383472435
rs1350464264
1283 P>L No ClinGen
TOPMed
CA383472438
rs1339723320
1283 P>S No ClinGen
TOPMed
gnomAD
rs771110477
CA6368612
1285 P>L No ClinGen
ExAC
gnomAD
rs1370328978
CA383472407
1288 G>D No ClinGen
gnomAD
rs1440148786
CA383472411
1288 G>S No ClinGen
gnomAD
CA6368609
rs768379934
1289 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1311569703
CA383472403
1289 P>S No ClinGen
gnomAD
CA6368607
rs576502138
1290 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1041549124
CA231251308
1290 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA383472393
rs1460800515
1291 P>L No ClinGen
gnomAD
rs910930819
CA231251299
1294 P>R No ClinGen
gnomAD
rs757921495
CA383472367
1296 D>N No ClinGen
ExAC
gnomAD
CA6368606
rs757921495
1296 D>Y No ClinGen
ExAC
gnomAD
rs745418690
CA6368605
1298 L>W No ClinGen
ExAC
gnomAD
CA6368603
rs368872341
1299 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778455234
CA6368604
1299 D>N No ClinGen
ExAC
gnomAD
rs1249393082
CA383472323
1302 G>E No ClinGen
gnomAD
CA6368601
rs764381966
1304 T>A No ClinGen
ExAC
gnomAD
rs1280861402
CA383472308
1304 T>M No ClinGen
TOPMed
gnomAD
rs1565421405
CA383472302
1305 P>L No ClinGen
Ensembl
CA6368599
rs753288317
1307 P>L No ClinGen
ExAC
gnomAD
rs968954894
CA231251223
1307 P>S No ClinGen
TOPMed
gnomAD
rs768088471
CA6368598
1308 R>Q No ClinGen
ExAC
gnomAD
CA6368597
rs760102783
1310 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6368595
rs763145037
1311 G>A No ClinGen
ExAC
gnomAD
CA6368594
rs763145037
1311 G>E No ClinGen
ExAC
gnomAD
TCGA novel 1312 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1313924991
CA383472261
1313 E>* No ClinGen
TOPMed
gnomAD
rs1313924991
CA383472262
1313 E>Q No ClinGen
TOPMed
gnomAD
CA6368593
rs773415265
1314 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA383472255
rs1434594268
1314 L>M No ClinGen
gnomAD
rs768468003
CA6368592
1315 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA383472249
rs768468003
1315 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA383472244
rs1362767009
1316 R>G No ClinGen
gnomAD
rs201484490
CA6368590
1316 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367993254
CA6368589
1317 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383472240
rs1211898431
1317 P>S No ClinGen
gnomAD
CA6368587
rs770418036
1318 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA6368586
rs770418036
1318 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA6368585
rs748898735
1319 T>I No ClinGen
ExAC
gnomAD
rs748898735
CA383472225
1319 T>N No ClinGen
ExAC
gnomAD
CA383472214
rs1454081347
1321 P>L No ClinGen
gnomAD
rs867498001
CA231251108
1321 P>S No ClinGen
Ensembl
CA6368582
rs200416290
1322 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200416290
CA6368583
1322 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1279081770
CA383472204
1323 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA383472205
rs1279081770
1323 T>R No ClinGen
TOPMed
gnomAD
CA383472203
rs1474667679
1324 L>I No ClinGen
TOPMed
CA383472191
rs1320056598
1325 P>L No ClinGen
gnomAD
CA383472181
rs1294251482
1327 S>* No ClinGen
TOPMed
gnomAD
CA383472179
rs1294251482
1327 S>L No ClinGen
TOPMed
gnomAD
CA383472175
rs1459987230
1328 G>E No ClinGen
TOPMed
CA383471746
rs1163754658
1330 L>R No ClinGen
gnomAD
CA6368527
rs12800905
1331 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6368526
rs749297626
1332 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA6368525
rs373112099
1333 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6368523
rs747819474
1335 P>A No ClinGen
ExAC
gnomAD
CA6368522
rs776380242
1335 P>L No ClinGen
ExAC
gnomAD
CA383471718
rs747819474
1335 P>S No ClinGen
ExAC
gnomAD
CA383471713
rs577336826
1336 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs577336826
CA6368521
1336 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6368520
rs747446654
1336 A>V No ClinGen
ExAC
gnomAD
CA231250117
rs1002551890
1337 P>S No ClinGen
TOPMed
gnomAD
CA6368518
rs200886253
1338 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383471705
rs200886253
1338 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746361407
CA6368517
1338 A>V No ClinGen
ExAC
gnomAD
rs1324691424
CA383471690
1340 S>I No ClinGen
gnomAD
CA231250077
rs754091899
1340 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA383471683
rs1355950866
1341 P>R No ClinGen
gnomAD
rs1013609390
CA231250072
1342 P>S No ClinGen
Ensembl
CA383471660
rs1175438706
1345 A>S No ClinGen
TOPMed
gnomAD
CA383471661
rs1175438706
1345 A>T No ClinGen
TOPMed
gnomAD
rs1229564982
CA383471657
1345 A>V No ClinGen
TOPMed
rs912280462
CA383471655
1346 L>F No ClinGen
TOPMed
gnomAD
CA231250060
rs888016995
1346 L>H No ClinGen
Ensembl
CA383471656
rs912280462
1346 L>I No ClinGen
TOPMed
gnomAD
CA231250064
rs912280462
1346 L>V No ClinGen
TOPMed
gnomAD
rs1253675846
CA383471651
1347 S>P No ClinGen
TOPMed
gnomAD
CA383471645
rs1275886648
1348 K>E No ClinGen
TOPMed
CA383471634
rs1591710215
1349 L>R No ClinGen
Ensembl
rs758390652
CA6368512
1350 L>L No ClinGen
ExAC
TOPMed
gnomAD
rs1487603539
CA383471626
1350 L>Y No ClinGen
gnomAD

No associated diseases with Q9UPX0

21 regional properties for Q9UPX0

Type Name Position InterPro Accession
domain Immunoglobulin subtype 2 36 - 120 IPR003598-1
domain Immunoglobulin subtype 2 152 - 215 IPR003598-2
domain Immunoglobulin subtype 2 241 - 310 IPR003598-3
domain Immunoglobulin subtype 2 337 - 404 IPR003598-4
domain Immunoglobulin subtype 2 433 - 495 IPR003598-5
domain Immunoglobulin subtype 30 - 134 IPR003599-1
domain Immunoglobulin subtype 146 - 226 IPR003599-2
domain Immunoglobulin subtype 235 - 322 IPR003599-3
domain Immunoglobulin subtype 331 - 417 IPR003599-4
domain Immunoglobulin subtype 426 - 506 IPR003599-5
domain Fibronectin type III 232 - 302 IPR003961-1
domain Fibronectin type III 510 - 604 IPR003961-2
domain Fibronectin type III 614 - 708 IPR003961-3
domain Immunoglobulin-like domain 38 - 115 IPR007110-1
domain Immunoglobulin-like domain 139 - 226 IPR007110-2
domain Immunoglobulin-like domain 228 - 320 IPR007110-3
domain Immunoglobulin-like domain 324 - 415 IPR007110-4
domain Immunoglobulin-like domain 420 - 504 IPR007110-5
domain Immunoglobulin V-set domain 40 - 115 IPR013106-1
domain Immunoglobulin V-set domain 156 - 210 IPR013106-2
domain Immunoglobulin V-set domain 245 - 305 IPR013106-3

Functions

Description
EC Number
Subcellular Localization
  • Postsynaptic cell membrane ; Single-pass type I membrane protein
  • Postsynaptic density
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
GABA-ergic synapse A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
postsynaptic specialization of symmetric synapse A network of proteins within and adjacent to the postsynaptic membrane of a symmetric synapse, consisting of anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components that spatially and functionally organize the neurotransmitter receptors at the synapse. This structure is not as thick or electron dense as the postsynaptic densities found in asymmetric synapses.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O62664 PTGS1 Prostaglandin G/H synthase 1 Bos taurus (Bovine) PR
P23219 PTGS1 Prostaglandin G/H synthase 1 Homo sapiens (Human) PR
P35354 PTGS2 Prostaglandin G/H synthase 2 Homo sapiens (Human) PR
Q05769 Ptgs2 Prostaglandin G/H synthase 2 Mus musculus (Mouse) PR
P22437 Ptgs1 Prostaglandin G/H synthase 1 Mus musculus (Mouse) PR
P13595 Ncam1 Neural cell adhesion molecule 1 Mus musculus (Mouse) PR
Q05BQ1 Igsf9 Protein turtle homolog A Mus musculus (Mouse) PR
P13596 Ncam1 Neural cell adhesion molecule 1 Rattus norvegicus (Rat) PR
P0C5H6 Igsf9 Protein turtle homolog A Rattus norvegicus (Rat) PR
Q9C9U3 DOX2 Alpha-dioxygenase 2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MIWYVATFIA SVIGTRGLAA EGAHGLREEP EFVTARAGES VVLRCDVIHP VTGQPPPYVV
70 80 90 100 110 120
EWFKFGVPIP IFIKFGYYPP HVDPEYAGRA SLHDKASLRL EQVRSEDQGW YECKVLMLDQ
130 140 150 160 170 180
QYDTFHNGSW VHLTINAPPT FTETPPQYIE AKEGGSITMT CTAFGNPKPI VTWLKEGTLL
190 200 210 220 230 240
GASGKYQVSD GSLTVTSVSR EDRGAYTCRA YSIQGEAVHT THLLVQGPPF IVSPPENITV
250 260 270 280 290 300
NISQDALLTC RAEAYPGNLT YTWYWQDENV YFQNDLKLRV RILIDGTLII FRVKPEDSGK
310 320 330 340 350 360
YTCVPSNSLG RSPSASAYLT VQYPARVLNM PPVIYVPVGI HGYIRCPVDA EPPATVVKWN
370 380 390 400 410 420
KDGRPLQVEK NLGWTLMEDG SIRIEEATEE ALGTYTCVPY NTLGTMGQSA PARLVLKDPP
430 440 450 460 470 480
YFTVLPGWEY RQEAGRELLI PCAAAGDPFP VITWRKVGKP SRSKHSALPS GSLQFRALSK
490 500 510 520 530 540
EDHGEWECVA TNVVTSITAS THLTVIGTSP HAPGSVRVQV SMTTANVSWE PGYDGGYEQT
550 560 570 580 590 600
FSVWMKRAQF GPHDWLSLPV PPGPSWLLVD TLEPETAYQF SVLAQNKLGT SAFSEVVTVN
610 620 630 640 650 660
TLAFPITTPE PLVLVTPPRC LIANRTQQGV LLSWLPPANH SFPIDRYIME FRVAERWELL
670 680 690 700 710 720
DDGIPGTEGE FFAKDLSQDT WYEFRVLAVM QDLISEPSNI AGVSSTDIFP QPDLTEDGLA
730 740 750 760 770 780
RPVLAGIVAT ICFLAAAILF STLAACFVNK QRKRKLKRKK DPPLSITHCR KSLESPLSSG
790 800 810 820 830 840
KVSPESIRTL RAPSESSDDQ GQPAAKRMLS PTREKELSLY KKTKRAISSK KYSVAKAEAE
850 860 870 880 890 900
AEATTPIELI SRGPDGRFVM DPAEMEPSLK SRRIEGFPFA EETDMYPEFR QSDEENEDPL
910 920 930 940 950 960
VPTSVAALKS QLTPLSSSQE SYLPPPAYSP RFQPRGLEGP GGLEGRLQAT GQARPPAPRP
970 980 990 1000 1010 1020
FHHGQYYGYL SSSSPGEVEP PPFYVPEVGS PLSSVMSSPP LPTEGPFGHP TIPEENGENA
1030 1040 1050 1060 1070 1080
SNSTLPLTQT PTGGRSPEPW GRPEFPFGGL ETPAMMFPHQ LPPCDVPESL QPKAGLPRGL
1090 1100 1110 1120 1130 1140
PPTSLQVPAA YPGILSLEAP KGWAGKSPGR GPVPAPPAAK WQDRPMQPLV SQGQLRHTSQ
1150 1160 1170 1180 1190 1200
GMGIPVLPYP EPAEPGAHGG PSTFGLDTRW YEPQPRPRPS PRQARRAEPS LHQVVLQPSR
1210 1220 1230 1240 1250 1260
LSPLTQSPLS SRTGSPELAA RARPRPGLLQ QAEMSEITLQ PPAAVSFSRK STPSTGSPSQ
1270 1280 1290 1300 1310 1320
SSRSGSPSYR PAMGFTTLAT GYPSPPPGPA PAGPGDSLDV FGQTPSPRRT GEELLRPETP
1330 1340
PPTLPTSGKL QRDRPAPATS PPERALSKL