O75976
PR
Gene name |
CPD |
Protein name |
Carboxypeptidase D |
Names |
Metallocarboxypeptidase D, gp180 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1362 |
EC number |
3.4.17.22: Metallocarboxypeptidases |
Protein Class |
|
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
2 structures for O75976
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5AQ0 | X-ray | 095 A | A/B | 383-461 | PDB |
| AF-O75976-F1 | Predicted | AlphaFoldDB |
912 variants for O75976
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1033495193 CA289252749 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA398936047 rs1343567610 |
3 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA398936052 rs1430115872 |
3 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA289252764 rs1005145874 |
4 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1202141 CA8481291 rs781736103 |
4 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA289252768 rs781736103 |
4 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398936070 rs181199485 |
5 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8481293 rs78385519 |
5 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398936085 rs78385519 |
5 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569399497 CA8481296 |
6 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289252829 rs536859558 |
7 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA289252810 rs536859558 |
7 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA398936120 rs536859558 |
7 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1446288402 CA398936141 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8481297 rs772650639 |
9 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA289252856 rs760202323 |
10 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481298 rs760202323 |
10 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964722535 CA289252877 |
11 | W>* | No |
ClinGen TOPMed |
|
|
rs765767418 CA8481299 |
11 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs776574672 CA289252891 |
12 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776574672 CA398936209 |
12 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481300 rs776574672 |
12 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398936204 rs1385073062 |
12 | R>W | No |
ClinGen gnomAD |
|
|
rs1165301881 CA398936226 |
13 | L>P | No |
ClinGen gnomAD |
|
|
rs759413068 CA8481301 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481302 rs765082427 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398936307 rs945639033 |
17 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA289252915 rs945639033 |
17 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs978692215 CA289252917 |
20 | M>L | No |
ClinGen TOPMed |
|
|
rs758667162 CA398936399 |
21 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1458378193 CA398936386 |
21 | C>R | No |
ClinGen gnomAD |
|
|
rs758667162 CA8481304 |
21 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1180650624 CA398936415 |
22 | L>V | No |
ClinGen TOPMed |
|
|
rs939490647 CA289252957 |
26 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA289252977 rs1054814575 |
27 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866561541 CA289252991 |
30 | R>L | No |
ClinGen gnomAD |
|
|
rs866561541 CA398936536 |
30 | R>Q | No |
ClinGen gnomAD |
|
|
rs770446630 CA289252983 |
30 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8481309 rs757376871 |
31 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA8481308 rs751687776 |
31 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8481310 rs555263513 |
32 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1567862627 CA398936568 |
32 | A>V | No |
ClinGen Ensembl |
|
|
rs1214778217 CA398936575 |
33 | H>N | No |
ClinGen TOPMed |
|
|
rs1470114044 CA398936619 |
34 | I>M | No |
ClinGen gnomAD |
|
|
CA398936608 rs1231513395 |
34 | I>S | No |
ClinGen gnomAD |
|
|
VAR_027771 rs17857300 CA289253054 |
36 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs866701188 CA289253059 |
37 | A>E | No |
ClinGen Ensembl |
|
|
rs184488188 CA8481312 |
39 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481314 rs534156300 |
41 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481315 rs771662331 |
43 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs868687012 CA289253077 |
44 | T>K | No |
ClinGen Ensembl |
|
|
rs1326661858 CA398936829 |
45 | S>I | No |
ClinGen gnomAD |
|
|
CA8481316 rs772949103 |
45 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA398936849 rs1442919170 |
46 | A>V | No |
ClinGen gnomAD |
|
|
rs746594947 CA8481317 |
47 | G>A | No |
ClinGen ExAC |
|
|
rs770489646 CA8481318 |
50 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343497995 CA398936933 |
50 | A>V | No |
ClinGen gnomAD |
|
|
CA398936982 rs1193689039 |
53 | G>S | No |
ClinGen gnomAD |
|
|
rs201072230 CA8481323 |
54 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775303989 CA8481322 |
54 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481324 rs763743377 |
56 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398937097 rs1266138349 |
57 | R>C | No |
ClinGen gnomAD |
|
|
CA398937127 rs1479720214 |
59 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA398937125 rs1479720214 |
59 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8481325 rs751817853 |
60 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8481326 rs757351817 |
63 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757351817 CA398937269 |
63 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398937435 rs1309546134 |
68 | L>M | No |
ClinGen gnomAD |
|
|
CA8481328 rs767705978 |
71 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1447785477 CA398937508 |
71 | A>V | No |
ClinGen TOPMed |
|
|
rs1332317422 CA398937527 |
72 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1332317422 CA398937532 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8481329 rs750520251 |
73 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA398937571 rs1339579849 |
74 | A>T | No |
ClinGen gnomAD |
|
|
rs1206354042 CA398937611 |
76 | L>F | No |
ClinGen gnomAD |
|
|
rs1041634728 CA289253142 |
76 | L>P | No |
ClinGen Ensembl |
|
|
CA398937650 rs1248250862 |
78 | G>D | No |
ClinGen TOPMed |
|
|
CA398937681 rs1268225028 |
79 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780679884 CA8481331 |
81 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8481332 rs749773782 |
81 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA398937762 rs749773782 |
81 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA398937785 rs1490165776 |
82 | L>H | No |
ClinGen TOPMed |
|
|
rs1450279022 CA398937780 |
82 | L>V | No |
ClinGen gnomAD |
|
|
rs1383122876 CA398937833 |
84 | S>G | No |
ClinGen gnomAD |
|
|
rs1303680731 CA398937929 |
88 | S>A | No |
ClinGen gnomAD |
|
|
CA398937958 rs1180869886 |
89 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1370110268 CA398937993 |
90 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380032998 CA398938243 |
99 | L>F | No |
ClinGen gnomAD |
|
|
CA398938239 rs1380032998 |
99 | L>I | No |
ClinGen gnomAD |
|
|
CA398938246 rs1316971256 |
99 | L>R | No |
ClinGen gnomAD |
|
|
rs1310410328 CA398938294 |
101 | A>T | No |
ClinGen TOPMed |
|
|
CA398938361 rs1230133639 |
104 | G>V | No |
ClinGen gnomAD |
|
|
CA289253198 rs1017712684 |
105 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1357734127 CA398938420 |
108 | P>R | No |
ClinGen gnomAD |
|
|
rs1245964201 CA398938462 |
111 | D>N | No |
ClinGen gnomAD |
|
|
CA289253200 rs906467129 |
112 | A>P | No |
ClinGen TOPMed |
|
|
rs906467129 CA398938521 |
112 | A>S | No |
ClinGen TOPMed |
|
|
rs1489713199 CA398938537 |
113 | G>E | No |
ClinGen gnomAD |
|
|
CA398938528 rs1400708937 |
113 | G>R | No |
ClinGen gnomAD |
|
|
rs989513411 CA289253208 |
114 | P>L | No |
ClinGen TOPMed |
|
|
CA398938545 rs1335457748 |
114 | P>S | No |
ClinGen gnomAD |
|
|
CA8481336 rs189835367 |
115 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779090669 CA8481334 |
115 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398938640 rs1465550992 |
117 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1351383869 CA398938656 |
119 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA398938661 rs1351383869 |
119 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398938690 rs1241106369 |
120 | D>G | No |
ClinGen gnomAD |
|
|
rs1443797304 CA398938767 |
122 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1165140395 CA398938772 |
123 | G>R | No |
ClinGen gnomAD |
|
|
CA398938829 rs928176909 |
124 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs928176909 CA289253257 |
124 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA289253254 rs978384555 |
124 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745350728 CA8481338 |
127 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA398938922 rs572028954 |
129 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
CA398938968 rs1166717523 |
130 | P>A | No |
ClinGen Ensembl |
|
|
rs961143867 CA289253293 |
133 | K>N | No |
ClinGen Ensembl |
|
|
rs1324048754 CA398939044 |
133 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398939113 rs1390177691 |
136 | G>S | No |
ClinGen TOPMed |
|
|
CA398939130 rs1237486792 |
137 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA398939170 rs1329922091 |
138 | M>T | No |
ClinGen gnomAD |
|
|
CA8481341 rs762738842 |
138 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773768320 CA289253303 |
139 | H>Y | No |
ClinGen Ensembl |
|
|
CA8481342 rs768499703 |
140 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597701735 CA398939353 |
144 | V>A | No |
ClinGen Ensembl |
|
|
rs1404157911 CA398939406 |
146 | R>L | No |
ClinGen TOPMed |
|
|
CA8481344 rs762154184 |
150 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398939531 rs762154184 |
150 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481345 rs767826268 |
150 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750571315 CA8481346 |
151 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA398939615 rs1458371129 |
152 | L>F | No |
ClinGen gnomAD |
|
|
rs1412138516 CA398939589 |
152 | L>V | No |
ClinGen gnomAD |
|
|
CA398939637 rs1479966160 |
153 | A>G | No |
ClinGen TOPMed |
|
|
rs373064492 CA8481347 |
154 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398939646 rs373064492 |
154 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs182416584 CA8481348 |
154 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182416584 CA398939656 |
154 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8481350 rs755375779 |
157 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8481351 rs779390393 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398939756 rs1351573478 |
159 | G>S | No |
ClinGen gnomAD |
|
|
rs1555605293 CA398939783 |
160 | Y>* | No |
ClinGen ESP |
|
|
CA289253383 rs910769351 |
160 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754086114 CA289253371 |
160 | Y>N | No |
ClinGen Ensembl |
|
|
CA8481353 rs756971273 |
161 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323157833 CA398939847 |
162 | R>H | No |
ClinGen gnomAD |
|
|
rs1479527766 CA398939865 |
163 | G>E | No |
ClinGen gnomAD |
|
|
rs745473994 CA8481355 CA289253395 |
163 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA289253410 rs563958469 |
164 | D>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8481358 rs749312900 |
166 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8481360 rs774252098 |
168 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1460795208 CA398940052 |
172 | N>T | No |
ClinGen gnomAD |
|
|
CA8481362 rs771953389 |
173 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370241648 CA8481363 |
174 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753860996 CA8481366 |
177 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398940175 rs1220089824 |
177 | Y>H | No |
ClinGen gnomAD |
|
|
rs1203597815 CA398940306 |
181 | S>I | No |
ClinGen gnomAD |
|
|
rs906548606 CA289253501 |
182 | L>F | No |
ClinGen Ensembl |
|
|
CA8481368 rs765628135 |
183 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398940449 rs1488530942 |
186 | G>V | No |
ClinGen gnomAD |
|
|
rs1380719569 CA398940470 |
187 | F>L | No |
ClinGen TOPMed |
|
|
CA8481369 rs753205118 |
188 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1416993383 CA398940533 |
189 | R>H | No |
ClinGen gnomAD |
|
|
rs750079998 CA8481372 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481374 rs531434261 |
191 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748726965 CA398940613 |
192 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295322773 CA398940778 |
198 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8481379 rs772010503 |
199 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773078547 CA398940886 |
202 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773078547 CA8481380 |
202 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481382 rs771254289 |
204 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481383 rs776809492 |
205 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs960942003 CA289253604 |
209 | D>E | No |
ClinGen TOPMed |
|
|
CA398941088 rs990982154 |
210 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8481385 rs759561934 |
210 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs990982154 CA289253606 |
210 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs962459723 CA289253628 |
211 | S>C | No |
ClinGen TOPMed |
|
|
CA8481387 rs775875206 |
211 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775875206 CA8481388 |
211 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451733449 CA398941141 |
212 | R>C | No |
ClinGen gnomAD |
|
|
rs1451733449 CA398941139 |
212 | R>G | No |
ClinGen gnomAD |
|
|
CA398941148 rs1161984242 |
212 | R>H | No |
ClinGen gnomAD |
|
|
rs1413740807 CA398941163 |
213 | G>R | No |
ClinGen gnomAD |
|
|
CA398941173 rs1367593045 |
213 | G>V | No |
ClinGen TOPMed |
|
|
CA398941220 rs1167061293 |
215 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA398941269 rs1434725968 |
217 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1434725968 CA398941266 |
217 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755815841 CA8481391 |
219 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA398941365 rs1450226279 |
221 | P>L | No |
ClinGen gnomAD |
|
|
CA289253632 rs973812729 |
222 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1162338398 CA398941428 |
223 | Q>L | No |
ClinGen TOPMed |
|
|
CA8481393 rs753491322 |
226 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530282755 CA8481396 |
229 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481397 rs530282755 |
229 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481395 rs530282755 |
229 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481398 rs777772030 |
230 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8481400 rs770806750 |
233 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481401 rs776737002 |
234 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481402 rs746039831 |
236 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA289253671 rs548823517 |
236 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1597701962 CA398941769 |
238 | V>G | No |
ClinGen Ensembl |
|
|
CA289253698 rs945507647 |
239 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA398941792 rs1468414531 |
240 | A>T | No |
ClinGen gnomAD |
|
|
CA8481407 rs774739325 |
245 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8481406 rs764560445 |
245 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA289253723 rs201196265 |
246 | R>C | No |
ClinGen TOPMed |
|
|
rs762197393 CA8481408 |
246 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398941983 rs762197393 |
246 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398942014 rs1202518089 |
248 | N>H | No |
ClinGen gnomAD |
|
|
CA398944380 rs1295950957 |
257 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 258 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299009388 CA398944417 |
259 | G>S | No |
ClinGen TOPMed |
|
|
rs750207986 CA8481438 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1329271812 CA398944469 |
262 | V>L | No |
ClinGen gnomAD |
|
|
rs756329163 CA8481439 |
265 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398944532 rs1439994786 |
266 | P>S | No |
ClinGen gnomAD |
|
|
rs780286943 CA8481440 |
268 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA398944592 rs1156656814 |
270 | S>P | No |
ClinGen TOPMed |
|
|
rs1268115337 CA398944614 |
271 | P>L | No |
ClinGen gnomAD |
|
|
CA398944666 rs1298263187 |
273 | H>R | No |
ClinGen gnomAD |
|
|
CA398944697 rs1597703924 |
275 | A>T | No |
ClinGen Ensembl |
|
|
CA8481441 rs749464593 |
277 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398944750 rs1186901522 |
278 | I>T | No |
ClinGen gnomAD |
|
|
CA289256803 rs981874852 |
279 | Y>C | No |
ClinGen TOPMed |
|
|
rs768738088 CA8481442 |
280 | S>N | No |
ClinGen ExAC |
|
|
rs372685833 CA289256806 |
281 | K>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 284 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8481444 rs772323311 |
285 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8481445 rs772622609 |
286 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs557108475 CA289256815 |
287 | V>I | No |
ClinGen 1000Genomes |
|
|
rs761130256 CA8481447 |
288 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8481446 rs369436295 |
288 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289256817 rs1804932 |
292 | A>S | No |
ClinGen Ensembl |
|
|
CA398945011 rs1225945569 |
298 | N>K | No |
ClinGen gnomAD |
|
|
rs775540183 CA8481448 |
300 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398945036 rs193233043 |
301 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481449 rs193233043 |
301 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372998203 CA8481450 |
304 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA289256832 rs985972281 |
307 | P>L | No |
ClinGen TOPMed |
|
|
CA8481451 rs763763156 |
310 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751101003 CA8481452 |
311 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1358545438 CA398945194 |
312 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA289256854 rs925051966 |
312 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs376246870 CA8481455 |
315 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481456 rs200206773 |
317 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315880777 CA398945295 |
318 | K>E | No |
ClinGen TOPMed |
|
|
CA8481457 rs766105447 |
318 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs377027055 CA8481458 |
319 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289256875 rs747167438 |
321 | I>V | No |
ClinGen Ensembl |
|
|
rs755192964 CA8481459 |
323 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8481461 rs530827592 |
324 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398945394 rs1597704038 |
324 | G>V | No |
ClinGen Ensembl |
|
|
COSM1302601 CA289256886 rs373819167 |
325 | A>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA289256902 rs868486057 |
326 | H>R | No |
ClinGen Ensembl |
|
|
CA398945424 rs1323010117 |
326 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289256910 rs1046017853 |
327 | W>C | No |
ClinGen Ensembl |
|
|
rs367857380 CA8481465 |
328 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398945459 rs1396014407 |
328 | Y>H | No |
ClinGen gnomAD |
|
|
CA398945476 rs1226683824 |
329 | D>H | No |
ClinGen gnomAD |
|
|
rs1287749710 CA398945486 |
329 | D>V | No |
ClinGen gnomAD |
|
|
rs777128176 CA8481466 |
330 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749005556 CA8481467 |
331 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481496 rs764950874 |
333 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481495 rs181949706 |
333 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA289281326 rs146972525 |
334 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8481497 rs752966210 |
337 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573932634 CA8481498 |
338 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113671462 CA8481499 |
340 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289281330 rs113671462 |
340 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398952282 rs1227318438 |
343 | N>S | No |
ClinGen gnomAD |
|
|
rs751569499 CA8481500 |
343 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398952290 rs1275268086 |
344 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8481501 rs757878982 |
347 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481502 rs781771942 |
348 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371151229 CA8481505 |
358 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371151229 CA398952388 |
358 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs540974519 CA289281372 |
358 | P>S | No |
ClinGen 1000Genomes |
|
|
CA8481506 rs377211802 |
363 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771613343 CA8481507 |
364 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1176317403 CA398952436 |
364 | Q>R | No |
ClinGen TOPMed |
|
|
rs1208768711 CA398952445 |
365 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 367 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8481509 rs368820920 |
368 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481510 rs770390469 |
370 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8481511 COSM1520799 rs147588955 |
370 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147588955 CA8481512 |
370 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481513 COSM3795426 rs769693189 |
372 | S>F | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8481514 rs775130763 |
374 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1016322611 CA289281411 |
377 | I>T | No |
ClinGen gnomAD |
|
|
CA8481516 rs764191707 |
378 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA398952630 rs1597719197 |
379 | K>R | No |
ClinGen Ensembl |
|
|
rs774726703 CA398952704 |
381 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481535 rs774726703 |
381 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762061351 CA8481536 |
382 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245725260 CA398952710 |
382 | I>V | No |
ClinGen TOPMed |
|
|
rs1405231648 CA398952735 |
384 | V>G | No |
ClinGen TOPMed |
|
|
CA8481537 rs767772875 |
384 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481538 rs767772875 |
384 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289281816 rs997000240 |
390 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761294131 CA8481539 |
391 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410357042 CA398952861 |
391 | S>T | No |
ClinGen gnomAD |
|
|
rs201345496 CA8481540 |
392 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398952954 rs1157496381 |
394 | G>A | No |
ClinGen TOPMed |
|
|
rs1397531503 CA398952999 |
396 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1397531503 CA398952995 |
396 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1359726101 CA398953011 |
397 | L>V | No |
ClinGen gnomAD |
|
|
CA8481541 rs369470432 |
398 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398953092 rs1567874494 |
399 | N>K | No |
ClinGen Ensembl |
|
|
CA8481542 rs190169686 |
401 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA289281833 rs999283242 |
402 | I>F | No |
ClinGen Ensembl |
|
|
rs1280927613 CA398953236 |
406 | G>V | No |
ClinGen gnomAD |
|
|
rs756887250 CA8481545 |
407 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs565159852 CA289281854 |
408 | N>D | No |
ClinGen Ensembl |
|
|
rs780726436 CA8481546 |
409 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481547 rs745350591 |
410 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs544645153 CA8481548 |
411 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482773359 CA398953437 |
414 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1482773359 CA398953440 |
414 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1250175911 CA398953428 |
414 | G>R | No |
ClinGen gnomAD |
|
|
CA289281861 rs956304435 |
415 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs148993764 CA8481550 |
415 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398953457 rs1234837341 |
415 | R>S | No |
ClinGen gnomAD |
|
|
rs148993764 CA8481549 |
415 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201240868 CA289281868 |
416 | F>C | No |
ClinGen Ensembl |
|
|
CA398953496 rs1477151965 |
417 | G>D | No |
ClinGen gnomAD |
|
|
rs774283287 CA8481552 |
419 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1436570603 CA398953589 |
421 | R>* | No |
ClinGen gnomAD |
|
|
CA8481553 rs748441315 |
426 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA289281875 rs971676197 |
426 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8481554 rs574948338 |
428 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
|
rs373237520 CA289281878 |
430 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA289281890 rs915807738 |
431 | T>I | No |
ClinGen TOPMed |
|
|
CA8481557 rs766436879 |
435 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM53502 CA398953991 rs1462348761 |
437 | Y>C | liver skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8481572 rs747921803 |
439 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8481571 rs747921803 |
439 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1168318565 CA398954062 |
440 | L>S | No |
ClinGen TOPMed |
|
|
CA398954082 rs1354354175 |
441 | T>I | No |
ClinGen gnomAD |
|
|
rs773594466 CA8481573 |
442 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs962202874 CA289282254 |
443 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1274070718 CA398954111 |
444 | N>D | No |
ClinGen gnomAD |
|
|
CA398954124 rs747199704 |
444 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1366584967 CA398954222 |
453 | T>I | No |
ClinGen gnomAD |
|
|
CA289282271 rs17857301 VAR_027772 |
454 | E>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA8481577 rs760007432 |
455 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398954315 rs1163284057 |
458 | S>P | No |
ClinGen gnomAD |
|
|
CA289282286 COSM108355 rs141526574 |
459 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1455290440 CA398954398 |
462 | T>A | No |
ClinGen gnomAD |
|
|
rs1319045052 CA398954442 |
464 | T>I | No |
ClinGen gnomAD |
|
|
CA8481580 rs763328242 |
468 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8481582 rs192520453 |
470 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192520453 CA8481581 |
470 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398954557 rs765863802 |
472 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398954562 rs1337274345 |
473 | A>T | No |
ClinGen gnomAD |
|
|
rs77951927 CA289282315 |
474 | V>G | No |
ClinGen gnomAD |
|
|
CA398954577 rs1329837780 |
474 | V>I | No |
ClinGen TOPMed |
|
|
CA289282334 rs778524266 |
475 | S>L | No |
ClinGen gnomAD |
|
|
CA398954614 rs1398436487 |
476 | T>A | No |
ClinGen TOPMed |
|
|
CA8481586 rs755006328 |
477 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA398954638 rs143814240 |
478 | S>G | No |
ClinGen ESP TOPMed |
|
|
CA289282341 rs143814240 |
478 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA8481587 rs779028170 |
479 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8481588 rs148156095 |
480 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758285808 CA8481589 |
481 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA398954702 rs1177941265 |
482 | I>V | No |
ClinGen TOPMed |
|
|
CA8481591 rs372959172 |
489 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398954807 rs1182148002 |
489 | T>I | No |
ClinGen TOPMed |
|
|
rs1454659306 CA398954810 |
490 | S>T | No |
ClinGen gnomAD |
|
|
CA289282363 rs1027946255 |
491 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398954832 rs1597719954 |
491 | S>P | No |
ClinGen Ensembl |
|
|
CA398954856 COSM1710080 rs1357431098 |
492 | S>F | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8481594 rs745988609 |
492 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs769815696 CA8481595 |
493 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA398954869 rs1287968914 |
493 | Y>S | No |
ClinGen gnomAD |
|
|
CA8481596 rs775988700 |
494 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA398954912 rs1240979572 |
495 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763383514 CA8481597 |
496 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398954949 rs1201822743 |
498 | P>T | No |
ClinGen TOPMed |
|
|
rs61743601 RCV000949598 CA8481599 |
499 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
VAR_027773 CA289282389 rs17854355 |
505 | H>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA289282393 rs1018733857 |
507 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA398955175 rs1420478056 |
509 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398955337 rs1434703828 |
517 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs541307210 CA8481603 |
518 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764785518 CA8481605 |
520 | Y>C | No |
ClinGen ExAC |
|
|
CA398955425 rs1297659750 |
523 | I>N | No |
ClinGen gnomAD |
|
|
rs61745982 CA8481607 |
525 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481606 rs752689302 |
525 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398955485 rs1299002586 |
528 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 532 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398955572 rs1330316336 |
533 | V>I | No |
ClinGen gnomAD |
|
|
rs777474549 CA8481608 |
534 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8481609 rs751335179 |
535 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781497852 CA8481611 |
541 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1597720048 CA398955822 |
544 | S>P | No |
ClinGen Ensembl |
|
|
CA8481612 rs746029950 |
546 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398955954 rs1254212266 |
548 | G>D | No |
ClinGen gnomAD |
|
|
rs749853471 CA8481615 |
549 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481614 rs780102004 |
549 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA398956058 rs1194610948 |
551 | E>D | No |
ClinGen gnomAD |
|
|
CA8481616 rs769184376 |
552 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8481632 rs756315305 |
557 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8481634 rs531960935 |
560 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs531960935 CA8481633 |
560 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 561 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 562 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398956673 rs1376774811 |
563 | M>I | No |
ClinGen TOPMed |
|
|
CA398956710 rs1368917639 |
566 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779498039 CA8481636 |
568 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1567875106 CA398956777 |
569 | V>A | No |
ClinGen Ensembl |
|
|
CA8481637 rs748547259 |
569 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs772493836 CA8481638 |
573 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA398956846 rs1443834278 |
573 | L>R | No |
ClinGen gnomAD |
|
|
rs773710859 CA8481639 |
576 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398956886 rs1301857550 |
577 | L>F | No |
ClinGen gnomAD |
|
|
rs1292100062 CA398956907 |
578 | I>M | No |
ClinGen gnomAD |
|
|
CA8481640 rs375154790 |
581 | L>I | No |
ClinGen ESP ExAC |
|
|
rs1335152522 CA398956998 |
584 | N>K | No |
ClinGen gnomAD |
|
|
CA8481641 rs568492127 |
586 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA289282832 rs1004793373 |
589 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775239898 CA8481642 |
591 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762572036 CA8481643 |
592 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481644 rs763453733 |
594 | L>V | No |
ClinGen ExAC |
|
|
rs761651951 CA8481646 |
596 | H>R | No |
ClinGen ExAC |
|
|
rs370944637 CA8481645 |
596 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481647 rs767403564 |
598 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481648 rs535880946 |
598 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766621438 CA8481650 |
602 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398957559 rs1277067599 |
607 | N>I | No |
ClinGen gnomAD |
|
|
rs1159501959 CA398957606 |
609 | D>G | No |
ClinGen gnomAD |
|
|
rs866671319 CA289282845 |
609 | D>H | No |
ClinGen Ensembl |
|
|
CA398958425 rs768277006 |
618 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768277006 CA8481661 |
618 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA398958534 rs1442471347 |
621 | S>R | No |
ClinGen gnomAD |
|
|
rs1280562869 CA398958543 |
622 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8481663 rs761858271 |
623 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773719535 CA8481662 |
623 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372336205 CA398958659 |
628 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372336205 CA8481665 |
628 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766107366 CA8481667 |
635 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746161892 CA398958821 |
635 | R>L | No |
ClinGen gnomAD |
|
|
CA289284775 rs746161892 |
635 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA398958843 rs1257993126 |
637 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 638 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999734244 CA289284780 |
640 | Q>R | No |
ClinGen Ensembl |
|
|
CA8481669 rs758310112 |
642 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289284783 rs758310112 |
642 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375764127 COSM1249016 CA8481670 |
643 | Q>E | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA8481671 rs752701883 |
644 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481672 rs758460969 |
645 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318344401 CA398959022 |
646 | D>H | No |
ClinGen TOPMed |
|
|
CA8481673 rs778443694 |
647 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs752051733 CA8481674 |
648 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481675 rs188883639 |
648 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398959939 rs1330476582 |
650 | P>S | No |
ClinGen gnomAD |
|
|
rs1330476582 CA398959935 |
650 | P>T | No |
ClinGen gnomAD |
|
|
CA8481677 rs556234135 |
651 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1567876203 CA398959995 |
653 | I>V | No |
ClinGen Ensembl |
|
|
CA398960027 rs1394780908 |
655 | V>I | No |
ClinGen TOPMed |
|
|
CA8481680 rs747643711 |
656 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8481679 rs778525124 |
656 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1402193599 CA398960073 |
657 | S>N | No |
ClinGen TOPMed |
|
|
rs771522775 CA8481681 |
658 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237124575 CA398960184 |
662 | Y>C | No |
ClinGen gnomAD |
|
|
rs773149447 CA398960203 |
664 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs773149447 CA8481682 |
664 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA398960227 rs1159216129 |
665 | V>E | No |
ClinGen TOPMed |
|
|
rs1190214682 CA398960232 |
666 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs148834529 CA8481683 |
669 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776280518 CA8481685 |
671 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 671 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398960666 rs1447491781 |
673 | G>D | No |
ClinGen gnomAD |
|
|
rs1254770159 CA398960676 |
674 | S>T | No |
ClinGen gnomAD |
|
|
CA8481698 rs142023021 |
675 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770837719 CA8481701 |
680 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481702 rs776533265 |
682 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA398960879 rs1461804775 |
688 | L>F | No |
ClinGen Ensembl |
|
|
CA289287103 rs567752059 |
690 | T>S | No |
ClinGen gnomAD |
|
|
CA398960924 rs1337163146 |
692 | S>G | No |
ClinGen gnomAD |
|
|
CA8481707 rs764325779 |
693 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA398961029 rs1597723185 |
699 | V>A | No |
ClinGen Ensembl |
|
|
CA8481710 rs767940267 |
701 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8481711 rs750894921 |
703 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289287133 rs1015394480 |
703 | I>M | No |
ClinGen gnomAD |
|
|
CA398961074 rs750894921 |
703 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289287134 rs199780759 |
706 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA398961109 rs199780759 |
706 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 708 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756449726 CA8481712 |
709 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773604857 CA8481730 |
712 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs985874050 CA289290839 |
712 | S>Y | No |
ClinGen Ensembl |
|
|
CA8481732 rs766718157 |
714 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA8481731 rs761228684 |
714 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 715 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762639839 CA8481734 |
717 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs754167562 CA8481733 |
717 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297850786 CA398961605 |
718 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289290860 rs1032433944 |
725 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 726 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398961709 rs1448778530 |
728 | Y>C | No |
ClinGen gnomAD |
|
|
CA398961735 rs763754412 |
730 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481735 rs763754412 |
730 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481736 rs751150406 |
731 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289290870 rs377554415 |
735 | N>D | No |
ClinGen ESP gnomAD |
|
|
rs1567878998 CA398961826 |
738 | S>T | No |
ClinGen Ensembl |
|
|
CA289290874 rs370666752 |
739 | W>R | No |
ClinGen ESP |
|
|
CA289290878 rs957716827 |
740 | Y>C | No |
ClinGen TOPMed |
|
|
rs756735266 CA8481737 |
742 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1163512269 CA398961901 |
743 | P>L | No |
ClinGen gnomAD |
|
|
CA398934425 rs1485160508 |
744 | G>V | No |
ClinGen gnomAD |
|
|
CA8481756 rs761524959 |
747 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398934478 rs1262498085 |
748 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 755 | N>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424517993 CA398934691 |
756 | C>G | No |
ClinGen TOPMed |
|
|
rs1166625547 CA398934754 |
758 | E>D | No |
ClinGen gnomAD |
|
|
CA398934778 rs1196110349 |
760 | T>A | No |
ClinGen TOPMed |
|
|
rs780171077 CA8481762 |
761 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398934899 rs1597731319 |
765 | C>F | No |
ClinGen Ensembl |
|
|
rs778836193 CA8481765 |
766 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA398934994 rs1192429497 |
770 | L>F | No |
ClinGen TOPMed |
|
|
CA8481768 rs777761000 |
774 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs747130294 CA8481769 |
775 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481771 rs777139738 |
776 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398935365 rs1261754917 |
782 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760026361 CA8481772 |
782 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770214320 CA8481773 |
784 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1225447191 CA398935463 |
786 | I>T | No |
ClinGen gnomAD |
|
|
CA289261665 rs943248961 |
787 | Q>* | No |
ClinGen gnomAD |
|
|
rs775802851 CA8481774 |
787 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1362327221 CA398935587 |
789 | M>I | No |
ClinGen gnomAD |
|
|
rs767221775 CA8481777 |
791 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1191147517 CA398935912 |
793 | H>Y | No |
ClinGen TOPMed |
|
|
CA8481799 COSM3387774 rs148468921 |
796 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398936057 rs1412140414 |
799 | F>L | No |
ClinGen gnomAD |
|
|
CA398936065 rs1567880406 |
800 | V>I | No |
ClinGen Ensembl |
|
|
CA8481800 rs759593432 |
801 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1271205740 CA398936080 |
801 | L>V | No |
ClinGen gnomAD |
|
|
CA398936108 rs1206167807 |
802 | D>Y | No |
ClinGen TOPMed |
|
|
rs1239758219 CA398936157 |
803 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145254310 CA8481802 |
806 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758213281 CA8481803 |
807 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289262714 rs1022317401 |
808 | G>A | No |
ClinGen Ensembl |
|
|
rs763788110 CA8481804 |
809 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371672835 CA8481805 |
812 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418405999 CA398936389 |
812 | A>V | No |
ClinGen gnomAD |
|
|
CA8481806 rs757442695 |
813 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8481807 rs150162461 |
814 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745970699 CA8481808 |
815 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs745970699 CA398938616 |
815 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8481809 rs756147611 |
816 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA289262781 rs934479553 |
823 | V>M | No |
ClinGen TOPMed |
|
|
CA398939043 rs1332133989 |
826 | Y>* | No |
ClinGen gnomAD |
|
|
rs780615417 CA8481810 |
831 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
COSM977305 rs749699085 CA8481811 |
833 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 834 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398939624 rs1440248277 |
844 | A>G | No |
ClinGen TOPMed |
|
|
CA398939629 rs1440248277 |
844 | A>V | No |
ClinGen TOPMed |
|
|
rs376371688 CA8481814 |
847 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8481815 rs770682221 |
847 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8481816 rs776370227 |
848 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8481837 rs762998759 |
851 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042809892 CA289264201 |
852 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774305316 CA8481839 |
863 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61733802 CA398940653 |
864 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61733802 CA8481840 |
864 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481841 rs767243094 |
865 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767243094 CA289264222 |
865 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481842 rs750700642 |
866 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs750700642 CA289264231 |
866 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA398940780 rs1354303826 |
867 | N>S | No |
ClinGen gnomAD |
|
|
rs1482172272 CA398940861 |
869 | T>R | No |
ClinGen TOPMed |
|
|
rs760882597 CA8481843 |
871 | V>F | No |
ClinGen ExAC |
|
|
rs766518499 CA398940939 |
872 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8481844 rs766518499 |
872 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481845 rs185549649 |
875 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755033331 CA398941027 |
876 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481846 rs755033331 |
876 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481847 rs779317737 |
877 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs527978533 CA8481848 |
879 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758843358 CA8481849 |
881 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs769311641 CA398941401 |
886 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481852 rs769311641 |
886 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779711077 CA8481853 |
887 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs779711077 CA398941409 |
887 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748781998 CA8481854 |
888 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA398941448 rs1465553518 CA398941445 |
888 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8481855 rs768147976 |
890 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8481856 rs552326377 |
892 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481857 rs748064435 |
893 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1242239716 CA398941689 |
895 | S>R | No |
ClinGen gnomAD |
|
|
rs772959643 CA8481859 |
897 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761003924 CA8481860 |
897 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28396255 CA8481861 |
898 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8481862 rs373014036 |
898 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28396255 CA289264386 |
898 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8481864 rs77379543 |
899 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000915269 CA8481865 VAR_027774 rs1860543 |
899 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8481863 rs77379543 |
899 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8481866 rs758946475 |
900 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA398941852 rs1181061998 |
901 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA398941909 rs1469212646 |
903 | E>Q | No |
ClinGen TOPMed |
|
|
rs764605983 CA8481867 |
904 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 906 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411747042 CA398942050 |
909 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1208591515 COSM372848 CA398942064 |
910 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs946222162 CA289264396 |
911 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs535600272 CA8481869 |
912 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA289264400 rs1045922513 |
913 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779579879 CA8481870 |
914 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597732863 CA398942147 |
914 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 916 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398942176 rs1567881084 |
916 | E>K | No |
ClinGen Ensembl |
|
|
CA398942223 rs1340114136 |
917 | S>N | No |
ClinGen TOPMed |
|
|
CA8481871 rs748915805 |
918 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs969508704 CA289264422 |
919 | M>T | No |
ClinGen Ensembl |
|
|
rs192769344 CA8481872 |
921 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8481873 rs200096968 |
921 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8481874 rs748123499 |
922 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8481875 rs771974141 |
923 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 924 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773084029 CA8481876 |
928 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201829180 CA289264469 |
929 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 929 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8481877 rs746807807 |
930 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770689947 CA8481878 |
932 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1319078793 CA398942555 |
932 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1319078793 CA398942546 |
932 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8481879 rs776726904 |
933 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs759787435 CA8481880 |
934 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251734106 CA398942586 |
934 | H>Y | No |
ClinGen gnomAD |
|
|
CA398942710 rs1191915376 |
938 | D>E | No |
ClinGen gnomAD |
|
|
CA398942748 rs1269573535 |
940 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8481881 rs201995465 |
941 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 943 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385014744 CA398942909 |
947 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA398943005 rs1567881140 |
950 | Y>C | No |
ClinGen Ensembl |
|
|
rs1467031259 CA398943040 |
952 | H>D | No |
ClinGen gnomAD |
|
|
rs1305510654 CA398943056 |
952 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8481884 rs764732444 |
953 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 959 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398945108 rs1166358191 |
961 | Q>E | No |
ClinGen gnomAD |
|
|
CA8481904 rs746129532 |
963 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs185947591 CA289267021 |
964 | E>A | No |
ClinGen 1000Genomes |
|
|
rs770167097 CA8481905 |
966 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481906 rs775818392 |
966 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs937343215 CA289267030 |
967 | H>Y | No |
ClinGen Ensembl |
|
|
CA398945302 rs1405995610 |
969 | W>S | No |
ClinGen gnomAD |
|
|
CA8481908 rs768800865 |
975 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398945444 rs1352102530 |
975 | N>Y | No |
ClinGen gnomAD |
|
|
CA289267045 rs991400996 |
976 | K>Q | No |
ClinGen Ensembl |
|
|
CA398945525 rs1286804435 |
978 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA289267101 rs947692385 |
981 | E>A | No |
ClinGen TOPMed |
|
|
rs1489277550 CA398945572 |
981 | E>Q | No |
ClinGen gnomAD |
|
|
CA289267106 rs947692385 |
981 | E>V | No |
ClinGen TOPMed |
|
|
CA398945584 rs1209007888 |
982 | P>S | No |
ClinGen gnomAD |
|
|
rs898413996 CA289267111 |
984 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8481910 rs762378622 |
986 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 986 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151154082 CA8481912 |
987 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481911 rs767810875 |
987 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481913 rs760977698 COSM137663 |
988 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1381640506 CA398945678 |
988 | R>H | No |
ClinGen gnomAD |
|
|
rs1381640506 CA398945680 |
988 | R>P | No |
ClinGen gnomAD |
|
|
rs760977698 CA398945672 |
988 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8481914 rs764899547 |
992 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1043140 CA289267170 |
993 | I>T | No |
ClinGen Ensembl |
|
|
rs752276070 CA8481915 |
993 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA8481916 rs757915063 |
994 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8481917 rs777247798 |
996 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398945801 rs1449268016 |
997 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA398945831 rs1240072501 |
999 | V>A | No |
ClinGen gnomAD |
|
|
CA8481919 rs757199061 |
1001 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217502672 CA398945867 |
1002 | E>G | No |
ClinGen gnomAD |
|
|
CA8481920 rs780945817 |
1002 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745711048 CA8481921 |
1007 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA398945938 rs1230950571 |
1008 | A>S | No |
ClinGen gnomAD |
|
|
CA398945957 rs1179210043 |
1009 | E>Q | No |
ClinGen gnomAD |
|
|
rs1239878223 CA398945983 |
1010 | F>L | No |
ClinGen gnomAD |
|
|
rs749509076 CA8481924 |
1011 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs370754352 CA289267269 |
1012 | C>F | No |
ClinGen ESP TOPMed |
|
|
CA8481925 rs768925876 |
1014 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1017 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8481926 rs774460272 |
1018 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8481927 rs77713107 |
1019 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867203781 CA289267283 |
1020 | A>D | No |
ClinGen Ensembl |
|
|
rs1167804812 CA398946190 |
1021 | V>I | No |
ClinGen gnomAD |
|
|
rs772653682 CA8481928 |
1023 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA398946513 rs1276594292 |
1029 | R>G | No |
ClinGen gnomAD |
|
|
CA398946515 rs1422152964 |
1029 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1029 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748290615 CA8481944 |
1030 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481948 rs771349056 |
1041 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs140102865 CA289268672 |
1041 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8481949 rs140102865 |
1041 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1043 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1046 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203187942 CA398946730 |
1046 | E>K | No |
ClinGen TOPMed |
|
|
rs1262073188 CA398946756 |
1047 | K>R | No |
ClinGen gnomAD |
|
|
CA398946778 rs1194924094 |
1048 | D>G | No |
ClinGen gnomAD |
|
|
rs763840920 CA8481951 |
1048 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1048 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8481953 rs72809814 |
1053 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773813413 CA8481952 |
1053 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398946910 rs1319848484 |
1056 | T>I | No |
ClinGen TOPMed |
|
|
rs1597735177 CA919824198 |
1057 | N>K | No |
ClinGen Ensembl |
|
|
rs1430642075 CA398946927 |
1059 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs150285239 CA289268708 |
1059 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs150285239 CA289268710 |
1059 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 1060 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398946931 rs1275864574 |
1060 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1062 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398946971 rs1296411716 |
1063 | L>S | No |
ClinGen gnomAD |
|
|
rs1360192295 CA398946977 |
1064 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1597735208 CA398947036 |
1067 | F>V | No |
ClinGen Ensembl |
|
|
CA398947065 rs1368680503 |
1069 | N>H | No |
ClinGen TOPMed |
|
|
rs558201013 CA398948159 |
1071 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558201013 CA8481964 |
1071 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398948162 rs1379769657 |
1071 | A>V | No |
ClinGen gnomAD |
|
|
CA398948163 rs1367907867 |
1072 | S>T | No |
ClinGen TOPMed |
|
|
rs771402271 CA8481965 |
1074 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777086325 CA8481966 |
1076 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774115299 CA8481969 |
1078 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769999947 CA8481968 |
1078 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761368177 CA8481970 |
1079 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398948258 rs1444496693 |
1080 | I>T | No |
ClinGen gnomAD |
|
|
rs767094903 CA8481971 |
1082 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA398948301 rs1347946397 |
1083 | L>F | No |
ClinGen TOPMed |
|
|
rs940115854 CA289271563 |
1094 | A>P | No |
ClinGen Ensembl |
|
|
CA289271590 rs1022109561 |
1095 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1096 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462881928 CA398948503 |
1096 | D>V | No |
ClinGen gnomAD |
|
|
rs753761018 CA8481975 |
1100 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs76006071 CA8481976 |
1107 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1238049866 CA398948770 |
1107 | D>N | No |
ClinGen gnomAD |
|
|
CA8481977 rs764924929 |
1110 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1173323048 CA398948925 |
1111 | Q>K | No |
ClinGen gnomAD |
|
|
rs1463833110 CA398949007 |
1112 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1267428425 CA398949008 |
1113 | V>M | No |
ClinGen TOPMed |
|
|
CA8481998 rs751725489 |
1114 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8481999 rs757389616 |
1115 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA398950203 rs1196505716 |
1118 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8482001 rs750980466 |
1120 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA289272388 rs1034821357 |
1124 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398950369 rs1210490690 |
1126 | Y>C | No |
ClinGen gnomAD |
|
|
rs1252229931 CA398950412 |
1128 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs936003202 CA289272391 |
1129 | N>S | No |
ClinGen Ensembl |
|
|
CA8482002 rs756557807 |
1130 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1193140686 CA398950510 |
1133 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398950546 rs1271690890 |
1134 | H>R | No |
ClinGen TOPMed |
|
|
CA8482003 rs373920031 |
1135 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8482004 rs373920031 |
1135 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430040059 CA398950581 |
1136 | G>A | No |
ClinGen gnomAD |
|
|
rs1430040059 CA398950588 |
1136 | G>D | No |
ClinGen gnomAD |
|
|
CA8482005 rs145126411 |
1137 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398950625 rs1367795796 |
1138 | P>S | No |
ClinGen gnomAD |
|
|
CA398950683 rs1458004083 |
1141 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777580072 CA8482006 |
1142 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8482007 rs777580072 |
1142 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138943830 CA289272568 |
1146 | E>D | No |
ClinGen ESP |
|
|
CA398950753 rs1487308675 |
1146 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8482015 rs763866918 |
1147 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8482016 rs751850255 |
1148 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA289272608 rs983597988 |
1148 | I>T | No |
ClinGen TOPMed |
|
|
CA398950800 rs1457974612 |
1149 | P>L | No |
ClinGen TOPMed |
|
|
rs201697680 CA8482017 |
1150 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398950819 rs1424315378 |
1151 | G>* | No |
ClinGen gnomAD |
|
|
rs965846722 CA289272630 |
1153 | M>I | No |
ClinGen TOPMed |
|
|
rs887493992 CA289272640 |
1154 | R>C | No |
ClinGen Ensembl |
|
|
rs767633615 CA8482018 |
1154 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398950871 rs1377955040 |
1155 | G>E | No |
ClinGen gnomAD |
|
|
rs750492183 CA8482019 |
1156 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1406942990 CA398950886 |
1157 | E>Q | No |
ClinGen TOPMed |
|
|
rs1346576270 CA398950909 |
1158 | W>* | No |
ClinGen gnomAD |
|
|
rs756181315 CA8482020 |
1158 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1433383013 CA398950923 |
1159 | H>L | No |
ClinGen gnomAD |
|
|
CA289272661 rs897427534 |
1159 | H>Q | No |
ClinGen Ensembl |
|
|
CA398950935 rs1182444942 |
1160 | S>N | No |
ClinGen TOPMed |
|
|
rs946366463 CA289272672 |
1163 | G>D | No |
ClinGen TOPMed |
|
|
rs768141656 CA8482022 |
1165 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA398952509 rs1457261697 |
1173 | G>S | No |
ClinGen gnomAD |
|
|
rs1308367251 CA398952560 |
1176 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1234116623 CA398952551 |
1176 | P>T | No |
ClinGen gnomAD |
|
|
rs1409518452 CA398952593 |
1178 | I>T | No |
ClinGen TOPMed |
|
|
CA398952619 rs1425892101 |
1180 | V>I | No |
ClinGen TOPMed |
|
|
CA398952634 rs1480991226 |
1181 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1189 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289276752 rs201346549 |
1191 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8482050 rs779589733 |
1192 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8482052 rs749273190 |
1192 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749273190 CA8482051 |
1192 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567885789 CA398952846 |
1194 | P>H | No |
ClinGen Ensembl |
|
|
rs774233218 CA8482053 |
1196 | L>V | No |
ClinGen ExAC |
|
|
CA8482054 rs145197774 |
1197 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1199 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8482055 rs771840562 |
1200 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA398953044 rs1356385048 |
1200 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1201 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274539245 CA398953098 |
1201 | K>R | No |
ClinGen gnomAD |
|
|
rs201106434 CA289276780 |
1202 | R>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1202 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530054675 CA289276809 |
1207 | M>I | No |
ClinGen 1000Genomes |
|
|
rs770956842 CA8482058 |
1207 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196339471 CA398953313 |
1209 | V>M | No |
ClinGen gnomAD |
|
|
rs1274963737 CA398953361 |
1210 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398953555 rs1271897448 |
1211 | V>L | No |
ClinGen gnomAD |
|
|
rs753378188 CA8482069 |
1213 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA398953746 rs1291885826 |
1218 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA289277387 rs1054089965 |
1219 | V>F | No |
ClinGen Ensembl |
|
|
CA8482071 rs778836822 |
1220 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1221 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8482072 rs748062282 |
1222 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289277392 rs891459274 |
1222 | K>M | No |
ClinGen Ensembl |
|
|
CA398953895 rs1446837116 |
1223 | T>S | No |
ClinGen gnomAD |
|
|
CA398953901 rs1337539221 |
1224 | G>R | No |
ClinGen TOPMed |
|
|
rs771827800 CA8482073 |
1225 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250793680 CA398953925 |
1225 | K>R | No |
ClinGen TOPMed |
|
|
rs1252587248 CA398953941 |
1226 | P>A | No |
ClinGen gnomAD |
|
|
rs777592052 CA8482074 |
1227 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1472090806 CA398953969 |
1228 | S>P | No |
ClinGen gnomAD |
|
|
rs771202943 CA8482076 |
1232 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970982199 CA289277405 |
1233 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1234 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8482078 rs759691290 |
1236 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8482079 rs376251337 |
1237 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776209352 CA8482080 |
1241 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764418938 CA8482082 |
1244 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398954371 rs1166857769 |
1245 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1247 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8482085 rs766061903 |
1249 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289277440 rs370902603 |
1250 | V>A | No |
ClinGen Ensembl |
|
|
CA289277434 rs1012826561 |
1250 | V>L | No |
ClinGen TOPMed |
|
|
rs1454121534 CA398954553 |
1253 | A>T | No |
ClinGen TOPMed |
|
|
rs753433254 CA8482086 |
1253 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289277456 rs146827629 |
1254 | P>L | No |
ClinGen 1000Genomes |
|
|
CA8482088 rs778388972 |
1254 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8482089 rs752670418 |
1257 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA398954759 rs1436528325 |
1261 | A>S | No |
ClinGen TOPMed |
|
|
CA8482094 rs766573282 |
1263 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775693792 CA8482097 |
1268 | Q>E | No |
ClinGen ExAC |
|
|
CA289277485 rs142087464 |
1269 | Q>E | No |
ClinGen ESP |
|
|
rs899046404 CA289277489 |
1270 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8482098 rs749282950 |
1272 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1273 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309142302 CA398955321 |
1277 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1476444610 CA398955374 |
1279 | A>V | No |
ClinGen TOPMed |
|
|
CA289277665 rs755907436 |
1282 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8482109 rs751392969 |
1284 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA398955456 rs1372227597 |
1285 | I>V | No |
ClinGen gnomAD |
|
|
rs935798099 CA289277686 |
1286 | V>I | No |
ClinGen Ensembl |
|
|
rs757145522 CA8482110 |
1290 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568380104 CA8482111 |
1292 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1330140261 CA398955600 |
1292 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs774521767 CA289277715 |
1301 | V>M | No |
ClinGen Ensembl |
|
|
CA398955894 rs1283251740 |
1302 | V>I | No |
ClinGen TOPMed |
|
|
CA8482114 rs756428099 |
1303 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA398955908 rs1217369816 |
1303 | T>P | No |
ClinGen gnomAD |
|
|
rs146329476 CA289277738 |
1304 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs1271162840 CA398955971 |
1305 | S>T | No |
ClinGen TOPMed |
|
|
CA398957075 rs1263775463 |
1308 | T>A | No |
ClinGen gnomAD |
|
|
CA8482128 rs762536310 |
1309 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8482129 COSM168747 rs763496882 |
1310 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1597740772 CA398957188 |
1311 | A>T | No |
ClinGen Ensembl |
|
|
CA8482131 rs757239387 |
1315 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1005069836 CA289279220 |
1316 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1318 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430249817 CA398957406 |
1319 | I>T | No |
ClinGen gnomAD |
|
|
CA8482132 rs148102054 |
1325 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1172071105 CA398957660 |
1327 | S>C | No |
ClinGen gnomAD |
|
|
CA8482133 rs141840596 |
1328 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141840596 CA8482134 |
1328 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289279242 rs370170270 |
1329 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8482137 rs755155710 |
1331 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8482138 rs778824915 |
1333 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1210468586 CA398957919 |
1335 | H>R | No |
ClinGen TOPMed |
|
|
CA8482140 rs772586501 |
1336 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8482139 COSM1238586 rs748735950 |
1336 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1246758771 CA398958009 |
1340 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8482143 rs747378794 |
1342 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289279277 rs947533958 |
1342 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1261095886 CA398958111 |
1344 | Y>H | No |
ClinGen gnomAD |
|
|
COSM301981 rs199922587 CA8482146 |
1349 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8482147 rs367904758 |
1349 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398958281 rs1184899387 |
1350 | M>L | No |
ClinGen gnomAD |
|
|
CA8482148 rs115003383 |
1353 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8482151 rs200892550 |
1354 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398958412 rs1390503797 |
1355 | S>A | No |
ClinGen TOPMed |
|
|
CA398958486 rs1190247625 |
1357 | K>E | No |
ClinGen TOPMed |
|
|
CA398958527 rs1455628523 |
1358 | S>C | No |
ClinGen gnomAD |
|
|
CA8482152 rs760607780 |
1361 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8482153 rs766086076 |
1362 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398958602 rs766086076 |
1362 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754127371 CA8482154 |
1363 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779144998 CA8482156 |
1366 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8482157 rs752801112 |
1369 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA398958939 rs1318553083 |
1373 | E>G | No |
ClinGen gnomAD |
|
|
rs778264508 CA8482159 |
1374 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747499990 CA8482162 |
1375 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA289279414 rs956810481 |
1376 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA398959047 rs1208833468 |
1377 | S>F | No |
ClinGen TOPMed |
|
|
CA8482163 rs781390690 |
1378 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289279428 rs898998732 |
1378 | S>R | No |
ClinGen Ensembl |
|
|
rs375525159 CA398959117 |
1380 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with O75976
5 regional properties for O75976
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M14, carboxypeptidase A | 58 - 472 | IPR000834-1 |
| domain | Peptidase M14, carboxypeptidase A | 503 - 888 | IPR000834-2 |
| domain | Peptidase M14, carboxypeptidase A | 933 - 1210 | IPR000834-3 |
| domain | Carboxypeptidase D, carboxypeptidase-like domain 3 | 933 - 1210 | IPR033848 |
| domain | Carboxypeptidase D, carboxypeptidase-like domain 2 | 496 - 791 | IPR034224 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.17.22 | Metallocarboxypeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metallocarboxypeptidase activity | Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| serine-type carboxypeptidase activity | Catalysis of the hydrolysis of a single C-terminal amino acid residue from the C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
| zinc ion binding | Binding to a zinc ion (Zn). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| peptide metabolic process | The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P04836 | CPE | Carboxypeptidase E | Bos taurus (Bovine) | PR |
| Q2KJ83 | CPN1 | Carboxypeptidase N catalytic chain | Bos taurus (Bovine) | PR |
| Q8QGP3 | CPZ | Carboxypeptidase Z | Gallus gallus (Chicken) | PR |
| P14384 | CPM | Carboxypeptidase M | Homo sapiens (Human) | PR |
| Q66K79 | CPZ | Carboxypeptidase Z | Homo sapiens (Human) | PR |
| Q8N436 | CPXM2 | Inactive carboxypeptidase-like protein X2 | Homo sapiens (Human) | PR |
| Q96SM3 | CPXM1 | Probable carboxypeptidase X1 | Homo sapiens (Human) | PR |
| Q8IUX7 | AEBP1 | Adipocyte enhancer-binding protein 1 | Homo sapiens (Human) | PR |
| Q80V42 | Cpm | Carboxypeptidase M | Mus musculus (Mouse) | PR |
| Q9JJN5 | Cpn1 | Carboxypeptidase N catalytic chain | Mus musculus (Mouse) | PR |
| Q9Z100 | Cpxm1 | Probable carboxypeptidase X1 | Mus musculus (Mouse) | PR |
| Q9D2L5 | Cpxm2 | Inactive carboxypeptidase-like protein X2 | Mus musculus (Mouse) | PR |
| Q640N1 | Aebp1 | Adipocyte enhancer-binding protein 1 | Mus musculus (Mouse) | PR |
| O89001 | Cpd | Carboxypeptidase D | Mus musculus (Mouse) | PR |
| Q9EQV8 | Cpn1 | Carboxypeptidase N catalytic chain | Rattus norvegicus (Rat) | PR |
| A2RUV9 | Aebp1 | Adipocyte enhancer-binding protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGRDERPP | WRLGRLLLLM | CLLLLGSSAR | AAHIKKAEAT | TTTTSAGAEA | AEGQFDRYYH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEELESALRE | AAAAGLPGLA | RLFSIGRSVE | GRPLWVLRLT | AGLGSLIPEG | DAGPDAAGPD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AAGPLLPGRP | QVKLVGNMHG | DETVSRQVLI | YLARELAAGY | RRGDPRLVRL | LNTTDVYLLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLNPDGFERA | REGDCGFGDG | GPSGASGRDN | SRGRDLNRSF | PDQFSTGEPP | ALDEVPEVRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LIEWIRRNKF | VLSGNLHGGS | VVASYPFDDS | PEHKATGIYS | KTSDDEVFKY | LAKAYASNHP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IMKTGEPHCP | GDEDETFKDG | ITNGAHWYDV | EGGMQDYNYV | WANCFEITLE | LSCCKYPPAS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLRQEWENNR | ESLITLIEKV | HIGVKGFVKD | SITGSGLENA | TISVAGINHN | ITTGRFGDFY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLLVPGTYNL | TVVLTGYMPL | TVTNVVVKEG | PATEVDFSLR | PTVTSVIPDT | TEAVSTASTV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AIPNILSGTS | SSYQPIQPKD | FHHHHFPDME | IFLRRFANEY | PNITRLYSLG | KSVESRELYV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MEISDNPGVH | EPGEPEFKYI | GNMHGNEVVG | RELLLNLIEY | LCKNFGTDPE | VTDLVHNTRI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HLMPSMNPDG | YEKSQEGDSI | SVIGRNNSNN | FDLNRNFPDQ | FVQITDPTQP | ETIAVMSWMK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SYPFVLSANL | HGGSLVVNYP | FDDDEQGLAT | YSKSPDDAVF | QQIALSYSKE | NSQMFQGRPC |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KNMYPNEYFP | HGITNGASWY | NVPGGMQDWN | YLQTNCFEVT | IELGCVKYPL | EKELPNFWEQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NRRSLIQFMK | QVHQGVRGFV | LDATDGRGIL | NATISVAEIN | HPVTTYKTGD | YWRLLVPGTY |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KITASARGYN | PVTKNVTVKS | EGAIQVNFTL | VRSSTDSNNE | SKKGKGASSS | TNDASDPTTK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EFETLIKDLS | AENGLESLML | RSSSNLALAL | YRYHSYKDLS | EFLRGLVMNY | PHITNLTNLG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QSTEYRHIWS | LEISNKPNVS | EPEEPKIRFV | AGIHGNAPVG | TELLLALAEF | LCLNYKKNPA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VTQLVDRTRI | VIVPSLNPDG | RERAQEKDCT | SKIGQTNARG | KDLDTDFTNN | ASQPETKAII |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ENLIQKQDFS | LSVALDGGSM | LVTYPYDKPV | QTVENKETLK | HLASLYANNH | PSMHMGQPSC |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PNKSDENIPG | GVMRGAEWHS | HLGSMKDYSV | TYGHCPEITV | YTSCCYFPSA | ARLPSLWADN |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KRSLLSMLVE | VHKGVHGFVK | DKTGKPISKA | VIVLNEGIKV | QTKEGGYFHV | LLAPGVHNII |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| AIADGYQQQH | SQVFVHHDAA | SSVVIVFDTD | NRIFGLPREL | VVTVSGATMS | ALILTACIIW |
| 1330 | 1340 | 1350 | 1360 | 1370 | |
| CICSIKSNRH | KDGFHRLRQH | HDEYEDEIRM | MSTGSKKSLL | SHEFQDETDT | EEETLYSSKH |