Q9ULU8
Gene name |
CADPS (CAPS, CAPS1, KIAA1121) |
Protein name |
Calcium-dependent secretion activator 1 |
Names |
Calcium-dependent activator protein for secretion 1, CAPS-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8618 |
EC number |
|
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 Q9ULU8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WI1 | NMR | - | A | 522-634 | PDB |
| AF-Q9ULU8-F1 | Predicted | AlphaFoldDB |
930 variants for Q9ULU8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA174902 COSM1179562 rs193921128 COSM1179563 RCV000149385 |
162 | A>T | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA2477366 rs753008027 |
3 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234944909 CA353535399 |
4 | P>L | No |
ClinGen TOPMed |
|
|
rs759782285 CA2477364 |
6 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353535390 rs1228373744 |
6 | S>Y | No |
ClinGen gnomAD |
|
|
rs1300303855 CA353535386 |
7 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353535359 rs1346483473 |
10 | E>G | No |
ClinGen TOPMed |
|
|
rs1339522614 CA353535348 |
12 | D>N | No |
ClinGen gnomAD |
|
|
CA2477363 rs776782869 |
13 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201514742 COSM1538354 COSM1538353 CA353535330 |
14 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs770846736 CA2477362 |
14 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA75893430 rs903562646 |
14 | I>V | No |
ClinGen TOPMed |
|
|
rs1199810382 CA353535327 |
15 | V>L | No |
ClinGen TOPMed |
|
|
CA353535304 rs1427790288 |
18 | E>K | No |
ClinGen gnomAD |
|
|
rs772478182 CA2477358 |
19 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353535292 rs774661931 CA2477356 |
19 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353535290 rs768322888 |
20 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2477355 rs768322888 |
20 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748835245 CA75893417 |
23 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748835245 CA2477354 |
23 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181909351 CA353535248 |
26 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1310801317 CA353535245 |
27 | A>T | No |
ClinGen TOPMed |
|
|
rs1482373470 CA353535242 |
27 | A>V | No |
ClinGen gnomAD |
|
|
rs757218775 CA353535237 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757218775 CA2477349 |
28 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358240148 CA353535228 |
30 | G>D | No |
ClinGen TOPMed |
|
|
rs751422032 CA2477348 |
30 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355510786 CA353535220 |
31 | A>V | No |
ClinGen gnomAD |
|
|
CA2477346 rs755251601 |
32 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755251601 CA353535215 |
32 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353535191 rs1329532583 |
36 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1404534547 CA353535188 |
37 | R>G | No |
ClinGen gnomAD |
|
|
rs574548082 CA2477343 |
37 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574548082 CA75893406 |
37 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353535182 rs1458758426 |
38 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353535162 rs1162980465 |
41 | G>S | No |
ClinGen TOPMed |
|
|
CA353535153 rs1393289371 |
42 | S>W | No |
ClinGen TOPMed |
|
|
rs1418603207 CA353535146 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774712790 CA2477339 |
45 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353535131 rs1254588183 |
46 | A>S | No |
ClinGen gnomAD |
|
|
CA353535122 rs1451372707 |
47 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353535114 rs1288222212 |
49 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768942724 CA2477338 |
49 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA353535113 rs1288222212 |
49 | G>W | No |
ClinGen TOPMed gnomAD |
|
| rs1266879415 | 50 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353535107 rs1335105830 |
50 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353535109 rs1333040025 |
50 | G>R | No |
ClinGen TOPMed |
|
|
rs1258843946 CA353535104 |
51 | G>C | No |
ClinGen TOPMed |
|
|
CA353535093 rs1480368155 |
52 | G>V | No |
ClinGen TOPMed |
|
|
CA2477337 rs749038689 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351858286 CA353535087 |
54 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs903630359 CA75893398 |
54 | G>V | No |
ClinGen TOPMed |
|
|
CA353535082 rs1461055146 |
55 | A>T | No |
ClinGen TOPMed |
|
|
CA353535075 rs1295879050 |
56 | G>R | No |
ClinGen TOPMed |
|
|
rs966452381 CA75893394 |
59 | V>G | No |
ClinGen Ensembl |
|
|
rs1307082377 CA353535050 |
60 | G>D | No |
ClinGen TOPMed |
|
|
rs1202535271 CA353535033 |
63 | G>C | No |
ClinGen TOPMed |
|
|
CA353535020 rs1387868263 |
65 | G>E | No |
ClinGen gnomAD |
|
|
rs1210752627 CA353535023 |
65 | G>R | No |
ClinGen TOPMed |
|
|
CA353535017 rs1329096152 |
66 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs556260817 CA75893392 |
68 | G>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA353534990 rs1158794212 |
70 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1158794212 CA353534991 |
70 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353534956 rs1298515899 |
75 | A>S | No |
ClinGen TOPMed |
|
|
rs1553808893 CA2477334 |
75 | A>V | No |
ClinGen Ensembl |
|
|
CA353534949 rs1577765614 |
76 | G>E | No |
ClinGen Ensembl |
|
|
rs1200827323 CA353534943 |
77 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1200827323 CA353534944 |
77 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1560049709 CA353534923 |
80 | P>R | No |
ClinGen Ensembl |
|
|
CA353534907 rs745400126 |
82 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245298719 CA353534891 |
85 | G>D | No |
ClinGen gnomAD |
|
|
COSM404608 rs757273840 CA2477330 COSM404607 |
87 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1241887408 CA353534880 |
87 | G>D | No |
ClinGen TOPMed |
|
|
CA353534876 rs1206486296 |
88 | R>W | No |
ClinGen gnomAD |
|
|
rs1218523580 CA353534859 |
91 | S>G | No |
ClinGen gnomAD |
|
|
CA2477327 rs758112611 |
92 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364266570 CA353534834 |
94 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353534828 rs1433222269 |
95 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754135566 CA2477326 |
96 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1159956710 CA353534825 |
96 | V>L | No |
ClinGen gnomAD |
|
|
CA353534827 rs1159956710 |
96 | V>M | No |
ClinGen gnomAD |
|
|
CA353534818 rs1172399849 |
97 | V>A | No |
ClinGen TOPMed |
|
|
rs1423695828 CA353534816 |
98 | S>C | No |
ClinGen gnomAD |
|
|
CA2477325 rs766482938 CA353534810 |
98 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1454960732 CA353534805 |
99 | E>G | No |
ClinGen gnomAD |
|
|
CA2477323 rs373181966 |
103 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242130335 CA353534770 |
104 | E>K | No |
ClinGen gnomAD |
|
|
CA353534769 rs1242130335 |
104 | E>Q | No |
ClinGen gnomAD |
|
|
rs146998598 CA2477320 |
106 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353534748 rs1282365865 |
107 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1341159314 CA353534738 |
109 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA353534734 rs1295171104 |
109 | Q>R | No |
ClinGen gnomAD |
|
|
CA353534730 rs1577761908 |
110 | K>Q | No |
ClinGen Ensembl |
|
|
rs1315529251 CA353534726 |
110 | K>R | No |
ClinGen TOPMed |
|
|
rs1336807592 CA353534721 |
111 | E>Q | No |
ClinGen gnomAD |
|
|
rs1226398589 CA353534714 |
112 | E>K | No |
ClinGen gnomAD |
|
|
rs762313702 CA2477319 |
113 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1315314790 CA353534687 |
115 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353534685 rs1192523473 |
115 | R>S | No |
ClinGen TOPMed |
|
|
rs140977565 CA353534670 |
117 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA75893367 rs911062205 |
121 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142784700 CA353534621 CA353534622 |
125 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142784700 CA2477316 |
125 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395567771 CA353534608 |
127 | R>S | No |
ClinGen TOPMed |
|
|
CA75893365 rs867074864 |
130 | A>S | No |
ClinGen TOPMed |
|
|
CA353534586 rs867074864 |
130 | A>T | No |
ClinGen TOPMed |
|
|
CA353534574 rs763206239 |
132 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763206239 CA2477315 |
132 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353534541 rs1211458493 |
136 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA353534539 rs1482702155 |
137 | Q>* | No |
ClinGen gnomAD |
|
|
CA75893358 rs868252043 |
140 | D>N | No |
ClinGen Ensembl |
|
|
CA75893357 rs1047897183 |
141 | M>K | No |
ClinGen gnomAD |
|
|
rs1047897183 CA353534508 |
141 | M>T | No |
ClinGen gnomAD |
|
|
CA353534492 rs759170162 |
144 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397886005 CA353534303 |
148 | I>L | No |
ClinGen TOPMed |
|
|
CA353534292 rs1161144698 |
149 | S>N | No |
ClinGen gnomAD |
|
|
rs1346064043 CA353534277 |
151 | Q>L | No |
ClinGen TOPMed |
|
|
CA2477287 rs768495306 |
153 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA75871575 rs758428664 |
154 | Q>R | No |
ClinGen gnomAD |
|
|
CA353534244 COSM1617986 COSM1617987 rs1189252775 |
156 | V>D | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA353534235 rs1469702462 |
157 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2477285 rs781371846 |
159 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477284 rs757369103 |
159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1247238 COSM1247237 CA75871574 rs781371846 |
159 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751660042 CA2477283 |
161 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA353534207 rs193921128 |
162 | A>S | No |
ClinGen gnomAD |
|
|
rs1352029648 CA353534199 |
163 | F>C | No |
ClinGen TOPMed |
|
|
CA2477282 rs777849521 |
163 | F>L | No |
ClinGen ExAC |
|
|
rs1225176813 CA353534196 |
164 | L>I | No |
ClinGen TOPMed |
|
|
rs374048491 CA2477281 COSM393621 COSM393620 |
165 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1439156922 CA353534177 |
167 | E>Q | No |
ClinGen gnomAD |
|
|
CA2477279 rs765574786 |
168 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA75871573 rs1012911039 |
169 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs551771748 CA2477276 |
171 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2477277 rs753582174 |
171 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202064143 CA2477273 |
173 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2477274 rs772865797 |
173 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA353534131 rs1395502026 |
174 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353534120 rs1576084107 |
175 | A>G | No |
ClinGen Ensembl |
|
|
rs1194460354 CA353534121 |
175 | A>S | No |
ClinGen gnomAD |
|
|
CA353534104 rs1378685272 |
177 | M>I | No |
ClinGen TOPMed |
|
|
CA2477272 rs761723810 |
177 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768387474 CA353534096 |
178 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477271 rs774331824 |
178 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477269 rs749053370 |
179 | A>V | No |
ClinGen ExAC |
|
|
rs775215525 CA353534089 |
180 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477268 rs775215525 |
180 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353534082 rs1255912612 |
181 | Q>* | No |
ClinGen gnomAD |
|
|
rs946874983 CA75871571 |
181 | Q>H | No |
ClinGen gnomAD |
|
|
rs1232809758 CA353534074 |
182 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353534070 rs1559522190 |
182 | S>R | No |
ClinGen Ensembl |
|
|
rs771152842 CA353534062 |
183 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA353534057 rs1227135917 |
184 | Y>C | No |
ClinGen gnomAD |
|
|
rs1304651123 CA353534060 |
184 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353534000 rs1416467974 |
189 | K>T | No |
ClinGen gnomAD |
|
|
rs1356023572 CA353533993 |
190 | S>C | No |
ClinGen gnomAD |
|
|
CA353533992 rs1307402806 |
190 | S>N | No |
ClinGen gnomAD |
|
|
CA75870166 rs900216693 |
191 | D>E | No |
ClinGen Ensembl |
|
|
rs764052619 CA2477253 |
191 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353533982 rs764052619 |
191 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762817680 CA2477252 |
192 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477251 rs775267200 |
192 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417176726 CA353533956 COSM331378 COSM331379 |
193 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs769571334 CA2477250 |
194 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747289008 COSM1047988 COSM1047989 CA2477249 |
194 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2477248 COSM1047986 rs759883423 COSM1047987 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748288278 CA2477246 |
195 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477247 rs748288278 |
195 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353533915 rs1575876279 |
196 | M>I | No |
ClinGen Ensembl |
|
|
rs778806598 CA353533924 |
196 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778806598 CA2477245 COSM133393 |
196 | M>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368260579 CA353533881 |
199 | S>N | No |
ClinGen TOPMed |
|
|
rs1275578834 CA353533857 |
201 | G>S | No |
ClinGen gnomAD |
|
|
rs780636772 CA2477242 |
204 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353533791 rs149627119 |
205 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756534479 CA2477241 |
205 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA75870165 rs567491404 |
207 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs756821447 CA2477238 |
208 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150525596 COSM3696236 COSM3696235 CA75870164 |
208 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1329305945 CA353533740 |
210 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1575875445 CA353533736 |
210 | V>G | No |
ClinGen Ensembl |
|
|
rs1329305945 CA353533742 |
210 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201199713 CA2477236 |
215 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2477233 rs765062014 |
219 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477234 rs752617298 |
219 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2477232 rs200699296 |
220 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2477231 rs776247631 COSM1238414 COSM1238415 |
220 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA353533589 rs776247631 |
220 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477229 rs201960341 |
221 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2477228 rs201960341 |
221 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1022786029 CA75870162 |
223 | P>R | No |
ClinGen TOPMed |
|
|
CA353533536 rs1575874801 |
224 | E>D | No |
ClinGen Ensembl |
|
|
CA2477226 rs372234823 |
227 | G>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs770322543 CA2477224 |
229 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA353533460 rs1266959466 |
230 | K>R | No |
ClinGen gnomAD |
|
|
rs960807970 CA75870161 |
231 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 231 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353533446 rs960807970 |
231 | E>V | No |
ClinGen TOPMed |
|
|
CA353533441 rs1575874444 |
232 | T>A | No |
ClinGen Ensembl |
|
|
CA353533430 rs1183750573 |
232 | T>I | No |
ClinGen gnomAD |
|
|
CA2477223 rs746277038 |
234 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2477222 rs781364132 |
238 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280127722 CA353533337 |
239 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 239 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443665111 CA353533330 |
240 | K>Q | No |
ClinGen gnomAD |
|
|
CA353533260 rs1443411062 |
245 | Y>D | No |
ClinGen gnomAD |
|
|
rs757880751 CA2477218 |
246 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1047983 rs752666502 COSM1047982 CA2477217 |
246 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA353533240 rs752666502 |
246 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765186750 CA2477216 |
247 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353533231 rs765186750 |
247 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1575873511 CA353533195 |
250 | D>A | No |
ClinGen Ensembl |
|
|
rs1454081764 CA353533199 |
250 | D>Y | No |
ClinGen gnomAD |
|
|
rs759339095 CA2477215 |
251 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1309428 CA75870159 COSM1309429 rs1022980072 |
252 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM239135 CA353533168 rs149095712 COSM239134 |
252 | R>W | endometrium prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1010534316 CA75870158 |
255 | Q>P | No |
ClinGen Ensembl |
|
|
CA2477212 rs762164412 |
256 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774706010 CA2477211 COSM3824521 COSM3824520 |
256 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA353533111 rs1345412626 |
257 | R>L | No |
ClinGen gnomAD |
|
|
CA353533113 rs1345412626 |
257 | R>Q | No |
ClinGen gnomAD |
|
|
CA75870157 rs1017308312 |
257 | R>W | No |
ClinGen gnomAD |
|
|
CA2477209 CA2477210 rs763095162 |
258 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA75870156 CA353533110 rs374555826 |
258 | M>L | No |
ClinGen TOPMed |
|
|
rs200446361 CA2477207 |
261 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775673407 CA2477208 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1309427 CA2477205 rs150415917 COSM1309426 |
262 | A>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 263 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 264 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353533074 rs1428715095 |
264 | S>P | No |
ClinGen gnomAD |
|
|
rs771185889 CA2477204 |
265 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353533061 rs1575872189 |
266 | L>V | No |
ClinGen Ensembl |
|
|
rs746724636 CA2477203 |
268 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1373980414 CA353533030 |
271 | E>K | No |
ClinGen gnomAD |
|
|
CA353533004 rs1245462818 |
274 | Y>C | No |
ClinGen gnomAD |
|
|
CA75870154 rs1003851252 |
275 | E>D | No |
ClinGen TOPMed |
|
|
CA75870153 rs776843736 |
277 | F>L | No |
ClinGen Ensembl |
|
|
CA353532981 rs1418349931 |
277 | F>Y | No |
ClinGen gnomAD |
|
|
CA2477201 rs758002941 |
278 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2477200 rs372022670 |
280 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353532955 rs778333875 |
281 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778333875 CA2477199 |
281 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754949575 CA2477198 |
282 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs189008412 CA2477196 |
285 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353532916 COSM175314 rs1284442406 |
287 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA353532877 rs1244326310 |
292 | Y>C | No |
ClinGen TOPMed |
|
|
rs764442493 CA2477193 |
293 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1364106735 CA353532861 |
294 | A>D | No |
ClinGen gnomAD |
|
|
COSM1047978 rs763219166 COSM1047979 CA2477192 |
296 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA353420679 rs1297749776 |
297 | L>P | No |
ClinGen TOPMed |
|
|
rs767364303 CA2477176 |
299 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459384007 CA353420639 |
303 | Q>K | No |
ClinGen gnomAD |
|
|
rs752952903 CA2477174 |
305 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs765406504 CA2477173 |
306 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs776727904 CA2477171 |
313 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA2477169 COSM1047976 COSM1047977 rs761109512 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1425039 rs773569176 COSM1425038 CA2477168 |
314 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2477166 rs138272083 |
317 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2477167 rs772423610 |
317 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 319 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA75665212 rs764018019 |
320 | Q>H | No |
ClinGen Ensembl |
|
|
rs1042386191 CA75665208 |
322 | A>T | No |
ClinGen Ensembl |
|
|
CA2477165 rs773854261 |
322 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs900863254 CA75665188 |
323 | R>T | No |
ClinGen TOPMed |
|
|
COSM1180203 CA2477146 rs768219996 COSM1180202 |
325 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA353420485 rs768219996 |
325 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477145 rs762611876 |
325 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353420462 rs1579636181 |
328 | P>L | No |
ClinGen Ensembl |
|
|
CA2477144 rs774869379 |
328 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353420429 rs1171542781 |
333 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA75655698 rs961114706 |
334 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436419611 CA353420409 |
336 | E>K | No |
ClinGen gnomAD |
|
|
rs746801653 CA2477139 |
338 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2477140 rs770947824 |
338 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188760041 CA353420374 |
340 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353420377 rs1259767752 |
340 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2477138 rs777565349 |
344 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1393960968 CA353420325 |
348 | N>D | No |
ClinGen TOPMed |
|
|
rs373248827 CA75655656 |
348 | N>S | No |
ClinGen TOPMed |
|
|
rs373248827 CA353420322 |
348 | N>T | No |
ClinGen TOPMed |
|
|
CA2477135 COSM3408853 COSM3408854 rs780167475 |
352 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 353 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346264419 CA353420287 |
353 | N>K | No |
ClinGen TOPMed |
|
|
rs750970158 CA2477133 |
353 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347372556 CA353420261 |
357 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1347372556 CA353420262 |
357 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768044590 CA2477132 |
358 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs867439565 CA75655629 |
358 | P>S | No |
ClinGen Ensembl |
|
|
rs1368904231 CA353420221 |
363 | G>A | No |
ClinGen TOPMed |
|
|
CA2477129 rs764455169 |
363 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2477127 rs759661468 |
365 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA353420209 rs1579633570 |
365 | F>V | No |
ClinGen Ensembl |
|
|
CA2477125 rs759144701 |
368 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2477124 rs776227927 |
372 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214963810 CA353420159 |
372 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA353420161 rs776227927 |
372 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353420154 rs1172635650 |
373 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353420136 rs1404177679 |
375 | N>S | No |
ClinGen gnomAD |
|
|
rs746896565 CA2477122 |
376 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287212322 CA353420124 |
377 | S>Y | No |
ClinGen Ensembl |
|
|
rs771885497 CA2477120 |
378 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771885497 CA353420120 |
378 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477119 rs200844222 |
379 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs756290612 CA2477117 |
380 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1252763033 CA353420096 |
381 | M>I | No |
ClinGen gnomAD |
|
|
CA353420099 rs1337056897 |
381 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353420101 rs1180025713 |
381 | M>V | No |
ClinGen TOPMed |
|
|
rs1563348476 CA353420088 |
382 | G>D | No |
ClinGen Ensembl |
|
|
rs1218706119 CA353420092 |
382 | G>R | No |
ClinGen gnomAD |
|
|
rs781194971 CA2477115 |
383 | E>K | No |
ClinGen ExAC |
|
|
CA75655515 rs773906244 |
384 | E>D | No |
ClinGen Ensembl |
|
|
rs1340803999 CA353420046 |
388 | Q>P | No |
ClinGen gnomAD |
|
|
rs759206961 CA2477108 |
394 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs146070021 CA2477106 |
395 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353419989 rs1298875350 |
397 | S>Y | No |
ClinGen TOPMed |
|
|
CA2477103 rs141787208 |
399 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2477104 rs773180084 |
399 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs768439289 CA2477082 |
403 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353419922 rs1301606575 |
405 | M>I | No |
ClinGen gnomAD |
|
|
CA2477081 rs776799903 |
407 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353419912 rs776799903 |
407 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2477080 rs776799903 |
407 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931924886 CA75652158 |
408 | Q>R | No |
ClinGen TOPMed |
|
|
rs1388009859 CA353419888 |
411 | K>E | No |
ClinGen TOPMed |
|
|
CA353419873 rs1318190842 |
413 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2477079 rs142795732 |
414 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1047973 CA2477078 COSM1047972 rs747130261 |
417 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs138611744 CA2477077 |
418 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144979381 CA2477076 |
419 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192606141 CA353419829 |
420 | Y>C | No |
ClinGen gnomAD |
|
|
rs1395378894 CA353419810 |
423 | M>V | No |
ClinGen gnomAD |
|
|
rs748659970 CA353419796 |
424 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1579510170 CA353419789 |
425 | V>G | No |
ClinGen Ensembl |
|
|
CA353419780 rs1284155685 |
427 | G>R | No |
ClinGen TOPMed |
|
|
COSM274362 rs1490900778 CA353419763 COSM274361 |
429 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2477074 rs779476764 |
429 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1432561880 CA353024415 |
436 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 438 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 441 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2477070 rs146548123 |
442 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146548123 CA2477071 |
442 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353012459 rs1302321582 |
446 | Q>H | No |
ClinGen gnomAD |
|
|
CA353012436 rs1356353505 |
447 | G>V | No |
ClinGen TOPMed |
|
|
CA75653692 rs1004590111 |
449 | F>L | No |
ClinGen TOPMed |
|
|
rs745586265 CA2477033 |
452 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745586265 CA2477032 |
452 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316128633 CA353012292 |
453 | H>Y | No |
ClinGen TOPMed |
|
|
rs1420154040 CA353012265 |
454 | A>T | No |
ClinGen gnomAD |
|
|
CA353012211 rs531087753 |
457 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353012221 rs887402738 |
457 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA75653670 rs887402738 |
457 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2477029 rs531087753 |
457 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353012206 rs1332137151 |
458 | V>M | No |
ClinGen Ensembl |
|
|
rs1235935741 CA353012085 |
463 | F>L | No |
ClinGen TOPMed |
|
|
CA2477028 rs367957940 |
465 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 467 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758393871 CA2477027 |
467 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 468 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200814072 CA75653621 |
469 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753627499 CA353011977 |
471 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2477023 rs753627499 |
471 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs147388715 CA353011883 |
479 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147388715 COSM1318646 CA2477021 COSM1318647 |
479 | R>Q | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370794609 CA2476999 |
482 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140246088 CA2476996 |
486 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353010876 rs1194895026 |
492 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1259437739 CA353010842 |
493 | E>G | No |
ClinGen gnomAD |
|
|
CA2476993 rs771713733 |
493 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771713733 CA2476994 |
493 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1199134561 CA353010810 |
494 | W>L | No |
ClinGen gnomAD |
|
|
CA353010743 rs1378690254 |
496 | K>Q | No |
ClinGen TOPMed |
|
|
rs1446730517 CA353010651 |
498 | T>I | No |
ClinGen TOPMed |
|
|
rs747633246 CA2476992 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs749245429 CA2476989 |
505 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2476990 rs149527472 |
505 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2476987 rs755955069 |
506 | Q>E | No |
ClinGen ExAC |
|
|
CA2476986 rs751875548 |
507 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs866121744 CA75646940 |
508 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2476984 rs758600665 |
509 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752720622 CA2476983 |
513 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2476981 COSM193715 COSM193714 rs760015455 |
515 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA353010023 rs1178708640 |
516 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353010014 rs1467669027 |
517 | D>Y | No |
ClinGen gnomAD |
|
|
CA353009975 rs1287611853 |
519 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353007765 rs1288369724 |
528 | L>S | No |
ClinGen gnomAD |
|
|
rs1268756406 CA353007754 |
529 | W>C | No |
ClinGen TOPMed |
|
|
rs1241189431 CA353007752 |
530 | A>T | No |
ClinGen gnomAD |
|
|
rs750792310 CA353007745 |
531 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750792310 CA2476958 |
531 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA75633790 rs567840502 |
532 | G>S | No |
ClinGen gnomAD |
|
|
CA353007728 rs1159103031 |
533 | K>N | No |
ClinGen TOPMed |
|
|
CA75633785 rs766976261 |
535 | V>D | No |
ClinGen Ensembl |
|
|
rs1578016839 CA353007695 |
538 | R>K | No |
ClinGen Ensembl |
|
|
CA353007681 rs1379604717 |
540 | K>Q | No |
ClinGen TOPMed |
|
|
CA353007672 rs1290650427 |
541 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA353007563 rs1243332496 |
548 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 552 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770732308 CA2476931 |
553 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs746841434 CA2476930 |
553 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA353005502 rs1398849407 |
556 | M>I | No |
ClinGen gnomAD |
|
|
CA353005506 rs1480606199 |
556 | M>T | No |
ClinGen gnomAD |
|
|
CA2476928 rs768869284 |
556 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328677012 CA353005474 |
558 | S>G | No |
ClinGen gnomAD |
|
|
CA353005413 rs749507974 |
560 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476927 rs749507974 |
560 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1538364 CA75624278 COSM1538363 rs898296147 |
564 | A>V | lung Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA353005350 rs1403338805 |
565 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 574 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562117969 CA353005161 |
575 | Y>C | No |
ClinGen Ensembl |
|
|
CA353005074 rs1577745761 |
581 | D>A | No |
ClinGen Ensembl |
|
|
rs751971326 CA2476921 |
581 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA353005080 rs1439217349 |
581 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1221521130 CA353005057 |
582 | P>L | No |
ClinGen gnomAD |
|
|
rs1252381555 CA353005071 |
582 | P>T | No |
ClinGen gnomAD |
|
|
rs1292485646 CA353005027 |
583 | Q>H | No |
ClinGen gnomAD |
|
|
rs1339684911 CA353024193 |
586 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 590 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269484388 CA353024143 |
590 | R>L | No |
ClinGen TOPMed |
|
|
rs1279123677 CA353024132 |
591 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 593 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 595 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465225996 CA353024054 |
597 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 600 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 602 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476883 rs747587522 |
606 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1159574074 CA353023944 |
606 | S>R | No |
ClinGen TOPMed |
|
|
CA2476881 rs772655154 |
608 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353023861 rs1577601294 |
611 | D>A | No |
ClinGen Ensembl |
|
|
CA2476879 rs779353219 |
611 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1456108074 CA353023848 |
612 | R>H | No |
ClinGen gnomAD |
|
|
CA2476878 rs375750183 |
613 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353023842 rs1577601075 |
613 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 615 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263467757 CA353023808 |
615 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353023785 rs1361852892 |
617 | Q>* | No |
ClinGen gnomAD |
|
|
CA353023786 rs1361852892 |
617 | Q>E | No |
ClinGen gnomAD |
|
|
rs1316039255 CA353023767 |
618 | A>D | No |
ClinGen gnomAD |
|
|
CA2476876 rs779665786 |
619 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA75642074 rs906307436 |
621 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755549772 CA2476875 |
623 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA353023703 rs755549772 |
623 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA353023696 rs1390720390 |
624 | G>E | No |
ClinGen gnomAD |
|
|
TCGA novel CA2476873 rs767467805 |
624 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA353023689 rs1385728353 |
625 | Q>* | No |
ClinGen TOPMed |
|
|
CA2476872 rs757132281 |
627 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA75641997 CA2476871 rs576417700 |
627 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 629 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763796407 CA2476870 |
630 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776683516 CA2476868 |
632 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353023635 rs1450946935 |
633 | T>A | No |
ClinGen gnomAD |
|
|
CA353023631 rs1265260594 |
633 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs372430600 CA2476867 |
634 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490465817 CA353023620 |
635 | V>D | No |
ClinGen gnomAD |
|
|
rs760690580 CA2476866 |
636 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA353023595 rs1562002082 |
639 | N>D | No |
ClinGen Ensembl |
|
|
CA2476864 rs142524771 |
640 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2476863 rs142524771 |
640 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357195457 CA353023580 |
641 | K>R | No |
ClinGen TOPMed |
|
|
CA2476862 rs529123568 |
642 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1562001322 CA353023555 |
645 | V>L | No |
ClinGen Ensembl |
|
|
CA2476858 rs755744968 |
646 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755744968 CA2476859 |
646 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476854 rs751489838 |
649 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757255213 CA2476855 |
649 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2476852 rs758155374 |
652 | I>L | No |
ClinGen ExAC |
|
|
CA353023514 rs758155374 |
652 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 657 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015833872 CA75633664 |
657 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2476830 rs778763864 |
662 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1168476602 CA353023129 |
663 | H>R | No |
ClinGen gnomAD |
|
|
CA2476829 rs756461116 |
666 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2476828 rs750651093 |
670 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1197635 COSM1197634 rs1472586855 CA353023077 |
670 | S>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767746311 CA2476827 |
671 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2476826 rs762016527 |
672 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA353023052 rs1461865777 |
674 | C>F | No |
ClinGen gnomAD |
|
|
CA2476825 rs751611355 |
675 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2476824 rs764524930 |
675 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 678 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 678 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4119747 rs376619081 CA2476821 COSM4119748 |
679 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA75633613 rs200179449 |
680 | S>F | No |
ClinGen Ensembl |
|
|
rs371505343 CA75633607 |
683 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770518891 CA2476818 |
684 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476819 rs751279751 |
684 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759239403 CA2476820 |
684 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM480528 rs182039177 COSM480529 CA2476817 |
687 | R>C | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2476816 COSM1425034 rs573592664 COSM1425035 |
687 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1238177821 CA353022964 |
688 | L>F | No |
ClinGen gnomAD |
|
|
CA353022935 rs1329663840 |
692 | H>Y | No |
ClinGen TOPMed |
|
|
CA353022924 rs1445270474 |
693 | R>S | No |
ClinGen gnomAD |
|
|
rs778622264 CA2476813 |
697 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 700 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987619083 CA75632408 |
702 | G>S | No |
ClinGen TOPMed |
|
|
CA353021994 rs1217277148 |
703 | W>C | No |
ClinGen gnomAD |
|
|
rs760368296 CA2476796 |
709 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA353021779 rs1347095955 |
711 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476791 rs768666285 COSM1425032 COSM1425033 |
717 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 717 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353021648 rs1455375755 |
718 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA353021646 rs1345515862 |
718 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1345866510 CA353021632 |
720 | G>R | No |
ClinGen gnomAD |
|
|
rs1175909494 CA353021604 |
722 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2476790 rs749110612 |
724 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA75632314 rs924561165 |
728 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA353021506 rs1386786235 |
730 | Y>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 732 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476788 rs757623234 |
732 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2476786 rs777768926 |
733 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2476787 rs747244589 |
733 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1561773218 CA353021449 |
735 | L>F | No |
ClinGen Ensembl |
|
|
COSM3714668 CA2476785 COSM3714669 rs758477480 |
737 | R>W | ovary upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2476784 rs752667139 |
738 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1293617971 CA353021407 |
739 | E>K | No |
ClinGen gnomAD |
|
|
CA2476781 rs142586678 |
742 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1188761103 CA353021335 |
744 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1418278777 CA353021306 |
746 | P>T | No |
ClinGen TOPMed |
|
|
rs766727839 CA2476780 |
751 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA353021220 rs1408917600 |
752 | S>T | No |
ClinGen gnomAD |
|
|
CA2476778 rs772898935 |
759 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161323815 CA353021057 |
764 | R>K | No |
ClinGen TOPMed |
|
|
rs1460942463 CA353017370 |
765 | P>S | No |
ClinGen gnomAD |
|
|
CA2476737 rs765236986 |
767 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1324648545 CA353017291 |
769 | G>V | No |
ClinGen gnomAD |
|
|
rs759381698 CA2476736 |
773 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 775 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476735 rs776557778 |
776 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770603309 CA2476734 |
776 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA75624112 rs865887166 |
777 | E>K | No |
ClinGen Ensembl |
|
|
CA2476733 rs774579772 |
778 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374035152 CA2476730 |
778 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374035152 CA2476731 |
778 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2476732 rs774579772 |
778 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 779 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476729 rs148300961 |
781 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2476728 rs142653808 |
783 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746355673 CA2476727 |
783 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2476726 rs781648951 |
785 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2476724 CA2476725 rs751920649 |
785 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353016991 COSM278442 COSM278441 rs1411500518 |
787 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs777596271 CA2476723 |
787 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561549798 CA353016931 |
789 | L>Q | No |
ClinGen Ensembl |
|
|
rs758071026 CA2476722 |
790 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383473233 CA353016810 |
794 | I>F | No |
ClinGen gnomAD |
|
|
rs35912235 CA2476721 |
795 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2476720 rs764651868 |
795 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353016782 rs1202843167 |
796 | H>R | No |
ClinGen gnomAD |
|
|
CA75624030 rs908397389 |
796 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1577092688 CA353015606 |
800 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353015520 rs1256267990 |
804 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 804 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476699 rs766308486 |
805 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1413396998 CA353015484 |
806 | P>R | No |
ClinGen gnomAD |
|
|
CA2476698 rs755988090 |
806 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 807 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296527864 CA353015443 |
808 | G>A | No |
ClinGen TOPMed |
|
|
rs995827207 CA75623089 |
809 | A>S | No |
ClinGen TOPMed |
|
|
CA353015362 rs1340040116 |
812 | A>V | No |
ClinGen TOPMed |
|
|
CA2476697 rs750276180 |
813 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA75623086 rs760619126 |
814 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 814 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476696 rs760619126 |
814 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1325640375 CA353015328 |
814 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1280876995 CA353015284 |
817 | L>S | No |
ClinGen TOPMed |
|
|
rs918859458 CA75622798 |
820 | V>I | No |
ClinGen Ensembl |
|
|
CA75622782 rs974321249 |
822 | M>K | No |
ClinGen Ensembl |
|
| TCGA novel | 824 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476681 rs756110830 |
825 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353015011 rs1577086027 |
825 | I>T | No |
ClinGen Ensembl |
|
|
CA2476680 rs750327475 |
828 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353014908 rs1561524593 |
831 | Q>R | No |
ClinGen Ensembl |
|
|
CA2476677 rs751324960 |
832 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765379258 CA2476676 |
833 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs372013976 CA2476675 |
834 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2476674 rs567780877 |
835 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs13082830 CA75622731 |
837 | V>D | No |
ClinGen Ensembl |
|
|
rs1425225580 CA353014739 |
838 | I>F | No |
ClinGen TOPMed |
|
|
rs766539208 CA2476673 |
839 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM287401 rs184805711 COSM287402 CA2476672 |
839 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2476670 rs772669319 |
841 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367477382 CA353014599 |
844 | Q>* | No |
ClinGen TOPMed |
|
|
rs762089492 CA353014579 CA2476669 |
844 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2476668 rs774721337 |
846 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353014527 rs1161100134 |
847 | L>F | No |
ClinGen gnomAD |
|
|
rs149875451 CA75622692 |
848 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs150724919 CA2476667 |
849 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539731981 CA75622691 |
850 | Y>C | No |
ClinGen gnomAD |
|
|
rs1172349398 CA353014426 |
851 | S>C | No |
ClinGen gnomAD |
|
|
CA75622683 rs201178310 |
852 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2476663 rs201178310 |
852 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3775318 CA2476664 rs779578391 COSM3775317 |
852 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 854 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781136889 CA2476661 |
855 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476662 rs201778092 |
855 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 856 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA75622665 rs755928119 |
860 | E>K | No |
ClinGen gnomAD |
|
|
CA353012342 rs1561478809 |
862 | N>D | No |
ClinGen Ensembl |
|
|
rs752081344 CA2476632 |
863 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2476630 rs375222372 |
863 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353012305 rs1387531420 |
863 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1014154638 CA353009222 |
868 | N>K | No |
ClinGen TOPMed |
|
|
CA353009217 rs1372604239 |
869 | V>L | No |
ClinGen gnomAD |
|
|
CA353009192 rs1312753756 |
870 | G>D | No |
ClinGen TOPMed |
|
|
rs376024808 CA2476615 |
871 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2476616 rs781177687 COSM3357744 COSM3357743 |
871 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1308896591 CA353009163 |
873 | I>F | No |
ClinGen gnomAD |
|
|
CA2476614 rs139990093 |
873 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199920092 CA2476612 |
874 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1202939215 CA353009146 |
874 | T>P | No |
ClinGen TOPMed |
|
|
CA2476613 rs199920092 |
874 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2476611 rs753114055 |
876 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353009085 rs1157369955 |
877 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 879 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 879 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 882 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198254110 CA353009009 |
882 | T>K | No |
ClinGen gnomAD |
|
|
CA75610641 rs201388081 |
884 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2476606 rs142613294 |
884 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2476607 rs201388081 |
884 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2476605 rs371103619 |
886 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772540253 CA2476604 |
888 | L>P | No |
ClinGen ExAC |
|
|
rs1188614885 CA353008921 |
890 | I>V | No |
ClinGen TOPMed |
|
|
rs1407850987 CA353008902 |
891 | E>A | No |
ClinGen TOPMed |
|
|
COSM1047944 COSM1047943 rs1229955756 CA353008877 |
893 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2476601 rs774327812 |
898 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs748984742 CA2476599 |
899 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2476597 rs747123779 |
901 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476596 rs747123779 |
901 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303853851 CA353007630 |
904 | H>Y | No |
ClinGen gnomAD |
|
|
rs1387343262 CA353007618 |
905 | V>A | No |
ClinGen TOPMed |
|
|
CA2476581 rs374261190 |
906 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA75606528 rs772245834 |
907 | K>E | No |
ClinGen Ensembl |
|
|
rs1368360851 CA353007604 |
907 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs867944914 CA353007599 |
908 | G>E | No |
ClinGen TOPMed |
|
|
CA75606522 rs867944914 |
908 | G>V | No |
ClinGen TOPMed |
|
|
CA2476580 rs775085902 |
909 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs180960336 CA75605664 |
910 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs180960336 CA2476560 |
910 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2476559 rs773456732 |
911 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748244005 CA2476558 |
912 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748244005 CA2476557 |
912 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353006969 rs1330190217 |
915 | S>* | No |
ClinGen gnomAD |
|
|
rs1561189321 CA353006963 |
916 | D>N | No |
ClinGen Ensembl |
|
|
CA353006929 rs1576769251 |
918 | M>T | No |
ClinGen Ensembl |
|
|
CA353006910 rs1320985340 |
919 | V>A | No |
ClinGen gnomAD |
|
|
CA353006908 rs1388029743 |
920 | E>K | No |
ClinGen gnomAD |
|
|
rs769272343 CA2476555 |
922 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746760146 COSM304381 CA2476553 COSM304382 |
924 | T>M | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2476549 rs185042172 |
928 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs965276965 CA75605605 |
929 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 930 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268592984 CA353006746 |
932 | D>G | No |
ClinGen gnomAD |
|
|
rs373416442 CA75605598 |
932 | D>N | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 932 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208668345 CA353006714 |
934 | D>G | No |
ClinGen gnomAD |
|
|
rs1298303902 CA353006705 |
935 | A>P | No |
ClinGen TOPMed |
|
|
CA2476547 rs763689385 |
935 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405747544 CA353006687 |
936 | A>G | No |
ClinGen gnomAD |
|
|
CA353006675 rs1209799795 |
938 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2476544 rs765183785 |
941 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476545 rs765183785 |
941 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767786545 CA2476541 |
947 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 948 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296307647 CA353006540 |
948 | F>V | No |
ClinGen gnomAD |
|
|
rs774456022 CA2476539 |
950 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1401717460 CA353006437 |
956 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs749339449 CA2476537 |
959 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376315928 COSM1047939 COSM1047940 CA2476536 |
959 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376315928 CA353006388 |
959 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200922509 CA2476516 |
969 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2476515 rs770261939 |
971 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138691556 CA75604604 |
972 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376296834 CA75604597 |
974 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 974 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376296834 CA353006219 |
974 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2476513 rs777171428 |
974 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA353006207 CA2476512 rs771397571 |
975 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 978 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 982 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339207966 CA353006167 |
982 | V>L | No |
ClinGen TOPMed |
|
|
CA353006143 rs1265380864 |
985 | V>A | No |
ClinGen gnomAD |
|
|
rs1384204860 CA353006130 |
987 | L>P | No |
ClinGen TOPMed |
|
|
rs1036402798 CA75604583 |
989 | E>D | No |
ClinGen gnomAD |
|
|
CA353006068 rs1165315843 |
992 | I>T | No |
ClinGen gnomAD |
|
|
CA353006075 rs1224570625 |
992 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353006020 rs1344769170 |
995 | S>A | No |
ClinGen gnomAD |
|
|
rs771701556 CA2476509 |
999 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA75604576 rs144078102 |
999 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747672464 CA2476508 |
1002 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232952891 CA353005906 |
1002 | R>W | No |
ClinGen gnomAD |
|
|
rs778482031 CA2476507 |
1008 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449775502 CA353005810 COSM1047936 COSM1047935 |
1008 | V>I | endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs748759001 CA2476486 |
1010 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2476485 rs751130300 |
1010 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA353022634 rs1404985212 |
1012 | T>S | No |
ClinGen gnomAD |
|
|
CA75658011 rs1019142663 |
1013 | S>G | No |
ClinGen TOPMed |
|
|
CA2476482 rs77008736 |
1017 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2476483 rs77008736 |
1017 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999789507 CA75657972 |
1018 | V>M | No |
ClinGen TOPMed |
|
|
CA353022482 rs1426654805 |
1021 | P>T | No |
ClinGen gnomAD |
|
|
rs1470971454 CA353022463 |
1022 | N>D | No |
ClinGen gnomAD |
|
|
rs752937730 CA2476480 |
1022 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353022438 rs1368078937 |
1023 | V>L | No |
ClinGen TOPMed |
|
|
CA2476476 rs753914427 |
1028 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1486075591 CA353022326 |
1029 | P>S | No |
ClinGen gnomAD |
|
|
rs1261475586 CA353022282 |
1032 | P>T | No |
ClinGen gnomAD |
|
|
CA2476474 rs761244804 |
1036 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA75657907 rs868827229 |
1036 | P>S | No |
ClinGen gnomAD |
|
|
CA353022194 rs868827229 |
1036 | P>T | No |
ClinGen gnomAD |
|
|
CA2476472 rs767902686 |
1037 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353022125 rs1296047822 |
1040 | P>S | No |
ClinGen gnomAD |
|
|
CA353022105 rs1363072804 |
1041 | Q>* | No |
ClinGen gnomAD |
|
|
CA2476471 rs762036394 |
1042 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1042 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302697663 CA353022082 |
1042 | M>V | No |
ClinGen gnomAD |
|
|
CA353022005 rs1360587095 |
1045 | F>L | No |
ClinGen gnomAD |
|
|
CA2476470 rs373178609 |
1046 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2476468 rs748808363 |
1047 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476467 rs774966536 |
1047 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA75657840 COSM446959 rs916748914 |
1048 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1179943976 CA353021894 |
1050 | W>G | No |
ClinGen gnomAD |
|
|
rs1409825299 CA353021859 |
1051 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1053 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780894973 CA2476464 |
1054 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757094635 CA2476463 |
1054 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779293996 CA2476461 |
1055 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746738362 CA2476462 |
1055 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353021723 rs1308638231 |
1057 | A>T | No |
ClinGen gnomAD |
|
|
CA2476459 rs375576173 COSM3940616 |
1057 | A>V | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1058 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1073 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM193675 rs147087123 COSM273629 CA2476432 |
1073 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353020421 rs1208565255 |
1076 | T>N | No |
ClinGen gnomAD |
|
|
rs577817819 CA2476430 |
1078 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353020343 rs1274166986 |
1078 | I>V | No |
ClinGen gnomAD |
|
|
CA353020323 rs1380591245 |
1079 | R>Q | No |
ClinGen gnomAD |
|
|
CA353020280 rs148430862 |
1080 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1326587557 CA353020284 |
1080 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1326587557 CA353020282 |
1080 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353020265 rs1239061728 |
1081 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2476428 rs775993860 |
1082 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1083 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298638581 CA353020174 |
1085 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2476427 rs770971642 |
1087 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1157689950 CA353019996 |
1090 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2476426 rs760662640 |
1095 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1034439787 CA75654694 |
1099 | M>T | No |
ClinGen TOPMed |
|
|
rs868478167 CA75654671 |
1102 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1102 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773195036 CA2476425 |
1103 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476423 rs747913353 |
1105 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746365672 CA75654651 |
1107 | C>Y | No |
ClinGen Ensembl |
|
|
CA353019440 rs1454556060 |
1109 | K>I | No |
ClinGen gnomAD |
|
|
CA353019442 rs1454556060 |
1109 | K>R | No |
ClinGen gnomAD |
|
|
CA353019443 rs1454556060 |
1109 | K>T | No |
ClinGen gnomAD |
|
|
CA2476404 rs149931152 |
1113 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781377421 CA2476403 |
1114 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781377421 CA2476402 |
1114 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476401 rs771021661 |
1118 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs151301388 COSM1425026 CA2476400 COSM1425027 |
1122 | T>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA75650996 rs201181624 |
1124 | R>* | No |
ClinGen gnomAD |
|
|
rs778256058 CA2476399 |
1124 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3427826 rs778256058 COSM3427825 CA353018515 |
1124 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1692940 COSM1692939 CA2476397 rs748581222 |
1129 | R>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs367714345 CA2476396 |
1129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753456107 CA2476394 |
1132 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA353018404 rs753456107 |
1132 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766019189 CA2476393 |
1133 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1134 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416638600 CA353018379 |
1134 | I>T | No |
ClinGen gnomAD |
|
|
CA2476392 rs199647496 |
1134 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353018365 rs1313557880 |
1135 | C>Y | No |
ClinGen gnomAD |
|
|
CA2476391 rs534391982 |
1138 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs112585082 CA2476390 |
1138 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2476389 rs761834820 |
1140 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353018249 rs1400604418 |
1141 | M>L | No |
ClinGen TOPMed |
|
|
rs763771626 CA2476387 |
1142 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353018163 rs1415134254 |
1144 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1147 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1148 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250386400 CA353018056 |
1149 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1201886217 CA353017968 |
1154 | M>T | No |
ClinGen gnomAD |
|
|
CA2476384 rs368477906 |
1155 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs1003757145 CA75650833 |
1155 | E>V | No |
ClinGen Ensembl |
|
|
rs376363470 CA2476383 |
1156 | M>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs376363470 CA2476382 |
1156 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA353017902 rs1439442118 |
1157 | G>D | No |
ClinGen gnomAD |
|
|
CA353017892 rs1208950713 |
1158 | Q>* | No |
ClinGen gnomAD |
|
|
rs1208950713 CA353017896 |
1158 | Q>K | No |
ClinGen gnomAD |
|
| rs779428191 | 1159 | E>= | Variant assessed as Somatic; 0.0005061 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476380 rs748581967 |
1159 | E>K | Variant assessed as Somatic; 0.002762 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1211756666 CA353016367 |
1161 | Q>P | No |
ClinGen gnomAD |
|
|
rs1250163102 CA353016329 |
1162 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1164 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000660540 rs1553773676 |
1165 | K>* | No |
ClinVar dbSNP |
|
|
CA2476313 rs774478977 COSM731758 COSM731759 |
1166 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2476312 rs200712817 |
1167 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs776043383 CA2476310 |
1168 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2476309 rs770301757 |
1169 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2476308 rs746190980 |
1170 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1172 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394198286 CA353015989 |
1173 | T>S | No |
ClinGen gnomAD |
|
|
CA2476305 rs746556427 |
1175 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439113081 CA353015939 |
1175 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1176 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476304 rs777331057 |
1177 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA353015851 rs1311883660 |
1178 | I>K | No |
ClinGen TOPMed |
|
|
rs1162606599 CA353015857 |
1178 | I>V | No |
ClinGen gnomAD |
|
|
CA353015811 rs1420304514 |
1181 | L>F | No |
ClinGen gnomAD |
|
|
CA353015802 rs1448126960 |
1182 | V>A | No |
ClinGen TOPMed gnomAD |
|
| rs770554516 | 1185 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476288 rs777122141 |
1185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs574220713 CA2476286 |
1186 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772693397 CA2476285 |
1188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353015631 rs1346971953 |
1190 | E>D | No |
ClinGen gnomAD |
|
|
CA353015591 rs1443081345 |
1192 | V>M | No |
ClinGen gnomAD |
|
|
CA353015481 rs1158576022 |
1198 | R>I | No |
ClinGen Ensembl |
|
|
COSM731761 COSM731760 rs902090459 CA75643081 |
1201 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1047923 COSM1047924 CA75643053 rs761920713 |
1208 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 1209 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754901644 CA2476281 |
1209 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs940378954 CA75643045 |
1211 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1216 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2476257 rs144155979 |
1218 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2476255 rs755590141 |
1221 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA353008184 rs1576043808 |
1224 | K>N | No |
ClinGen Ensembl |
|
|
CA75619524 rs757765489 |
1224 | K>Q | No |
ClinGen TOPMed |
|
|
rs774846596 CA2476211 |
1225 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2476209 rs566247034 |
1226 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs201724714 CA75619493 |
1228 | D>E | No |
ClinGen ExAC |
|
|
CA2476206 rs771045473 |
1229 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476207 rs771045473 |
1229 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779293832 CA2476205 |
1231 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1238715963 CA353008084 |
1232 | A>T | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749452981 CA2476203 |
1236 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2476201 rs756697221 |
1237 | V>I | No |
ClinGen ExAC TOPMed |
|
|
COSM1642332 CA353008007 rs1188476583 COSM1642333 |
1238 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA353007999 rs1256556991 |
1238 | R>L | No |
ClinGen gnomAD |
|
|
CA353007958 rs1254707213 |
1241 | Q>L | No |
ClinGen gnomAD |
|
|
rs750918281 CA2476200 |
1244 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA353007912 rs1190512729 |
1245 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA353007910 rs1190512729 |
1245 | R>L | No |
ClinGen TOPMed |
|
|
rs781637391 CA2476199 |
1246 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1390894524 CA353007875 |
1248 | V>A | No |
ClinGen TOPMed |
|
|
rs751860249 CA2476197 |
1248 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751860249 CA75619357 |
1248 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475353469 CA353007843 |
1252 | M>I | No |
ClinGen TOPMed |
|
|
rs763791039 CA2476196 |
1252 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2476195 rs762508377 |
1254 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA353007789 rs1234264719 |
1259 | D>E | No |
ClinGen gnomAD |
|
|
rs747437965 CA2476174 |
1261 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1262 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353023411 rs1216926669 |
1263 | N>H | No |
ClinGen gnomAD |
|
|
rs1311812728 CA353023407 |
1263 | N>S | No |
ClinGen gnomAD |
|
|
rs199626657 CA2476173 |
1264 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353023403 rs199626657 |
1264 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1377205076 CA353023401 |
1264 | S>T | No |
ClinGen gnomAD |
|
|
rs1176471383 CA353023384 |
1266 | M>I | No |
ClinGen gnomAD |
|
|
rs558289554 CA2476172 |
1268 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752313498 CA2476171 |
1271 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764902930 CA2476170 |
1272 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs754461043 CA2476169 |
1274 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150776949 CA75629343 |
1275 | D>E | No |
ClinGen ESP |
|
| TCGA novel | 1275 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA75629321 rs566731837 |
1276 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353023314 rs1258318088 |
1277 | M>K | No |
ClinGen gnomAD |
|
|
CA75629317 rs992421878 |
1278 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1307255630 CA353023276 |
1282 | H>R | No |
ClinGen gnomAD |
|
|
CA2476165 rs773193357 |
1283 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767242642 CA2476164 |
1284 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1349647484 CA353023256 |
1285 | Q>P | No |
ClinGen TOPMed |
|
|
rs761631358 CA2476163 |
1287 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA2476162 rs775583072 |
1288 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201703105 CA75629272 |
1292 | M>I | No |
ClinGen 1000Genomes |
|
|
rs1211434629 CA353022836 |
1297 | Y>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1300 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141301525 CA2476131 COSM1047921 COSM1047922 |
1301 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA2476130 COSM446955 rs755694732 COSM446956 |
1301 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 1306 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311396812 CA353022706 |
1307 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2476125 rs763926479 |
1309 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476126 rs763926479 |
1309 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2476127 rs757210914 |
1309 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA75626931 rs902143375 |
1314 | T>N | No |
ClinGen Ensembl |
|
|
CA75626926 rs376832211 |
1315 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754090010 CA2476123 |
1315 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs148752175 CA2476122 |
1317 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353022498 rs1575521833 |
1318 | I>T | No |
ClinGen Ensembl |
|
|
CA2476119 COSM1738918 COSM1738919 rs772497329 |
1319 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773337761 CA2476120 |
1319 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA353022470 rs1575521698 |
1320 | N>T | No |
ClinGen Ensembl |
|
|
COSM1047919 CA353022451 COSM1047920 rs1192160113 |
1321 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA353022392 rs1575521539 |
1324 | V>G | No |
ClinGen Ensembl |
|
|
CA353022312 rs1267652273 |
1329 | A>S | No |
ClinGen gnomAD |
|
|
rs774675078 CA2476117 |
1330 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2476116 rs769177137 |
1334 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353022214 rs1487780014 |
1334 | G>S | No |
ClinGen gnomAD |
|
|
rs1248327845 CA353022182 |
1336 | G>V | No |
ClinGen Ensembl |
|
|
CA2476115 rs749601515 |
1339 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA75626866 rs1039388242 |
1340 | I>N | No |
ClinGen Ensembl |
|
|
CA353022122 rs1235187285 |
1340 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1341 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944534060 CA75626858 |
1344 | D>N | No |
ClinGen Ensembl |
|
|
CA2476112 rs554950742 |
1346 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353021938 rs1381906896 |
1347 | E>K | No |
ClinGen gnomAD |
|
|
rs780719627 CA353021869 |
1349 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM231942 COSM231943 CA2476110 rs147103435 |
1350 | E>K | oesophagus skin Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353021830 rs1375376847 |
1351 | E>K | No |
ClinGen gnomAD |
|
|
rs768330044 CA75626826 |
1352 | D>G | No |
ClinGen Ensembl |
|
|
CA2476108 rs777645997 |
1353 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1191982427 CA353021753 |
1354 | D>Q | No |
ClinGen gnomAD |
No associated diseases with Q9ULU8
Functions
5 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| neuronal dense core vesicle membrane | The lipid bilayer surrounding a neuronal dense core vesicle. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid binding | Binding to a lipid. |
| metal ion binding | Binding to a metal ion. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| dense core granule exocytosis | The secretion of molecules (e.g. neuropeptides, insulin-related peptides or neuromodulators such as serotonin and dopamine) contained within a membrane-bounced dense core granule by fusion of the granule with the plasma membrane of a cell in response to increased cytosolic calcium levels. |
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| positive regulation of exocytosis | Any process that activates or increases the frequency, rate or extent of exocytosis. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| synaptic vesicle exocytosis | Fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLDPSSSEEE | SDEIVEEESG | KEVLGSAPSG | ARLSPSRTSE | GSAGSAGLGG | GGAGAGAGVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGGGGGSGAS | SGGGAGGLQP | SSRAGGGRPS | SPSPSVVSEK | EKEELERLQK | EEEERKKRLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LYVFVMRCIA | YPFNAKQPTD | MARRQQKISK | QQLQTVKDRF | QAFLNGETQI | MADEAFMNAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSYYEVFLKS | DRVARMVQSG | GCSANDSREV | FKKHIEKRVR | SLPEIDGLSK | ETVLSSWMAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FDAIYRGEED | PRKQQARMTA | SAASELILSK | EQLYEMFQNI | LGIKKFEHQL | LYNACQLDNP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DEQAAQIRRE | LDGRLQMADQ | IARERKFPKF | VSKEMENMYI | EELKSSVNLL | MANLESMPVS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KGGEFKLQKL | KRSHNASIID | MGEESENQLS | KSDVVLSFSL | EVVIMEVQGL | KSLAPNRIVY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CTMEVEGGEK | LQTDQAEASK | PTWGTQGDFS | TTHALPAVKV | KLFTESTGVL | ALEDKELGRV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILHPTPNSPK | QSEWHKMTVS | KNCPDQDLKI | KLAVRMDKPQ | NMKHSGYLWA | IGKNVWKRWK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KRFFVLVQVS | QYTFAMCSYR | EKKAEPQELL | QLDGYTVDYT | DPQPGLEGGR | AFFNAVKEGD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TVIFASDDEQ | DRILWVQAMY | RATGQSHKPV | PPTQVQKLNA | KGGNVPQLDA | PISQFYADRA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QKHGMDEFIS | SNPCNFDHAS | LFEMVQRLTL | DHRLNDSYSC | LGWFSPGQVF | VLDEYCARNG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VRGCHRHLCY | LRDLLERAEN | GAMIDPTLLH | YSFAFCASHV | HGNRPDGIGT | VTVEEKERFE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EIKERLRVLL | ENQITHFRYC | FPFGRPEGAL | KATLSLLERV | LMKDIVTPVP | QEEVKTVIRK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| CLEQAALVNY | SRLSEYAKIE | ENQKDAENVG | RLITPAKKLE | DTIRLAELVI | EVLQQNEEHH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AEPHVDKGEA | FAWWSDLMVE | HAETFLSLFA | VDMDAALEVQ | PPDTWDSFPL | FQLLNDFLRT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DYNLCNGKFH | KHLQDLFAPL | VVRYVDLMES | SIAQSIHRGF | ERESWEPVKS | LTSNLPNVNL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PNVNLPKVPN | LPVNIPLGIP | QMPTFSAPSW | MAAIYDADNG | SGTSEDLFWK | LDALQTFIRD |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LHWPEEEFGK | HLEQRLKLMA | SDMIESCVKR | TRIAFEVKLQ | KTSRSTDFRV | PQSICTMFNV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| MVDAKAQSTK | LCSMEMGQEH | QYHSKIDELI | EETVKEMITL | LVAKFVTILE | GVLAKLSRYD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| EGTLFSSFLS | FTVKAASKYV | DVPKPGMDVA | DAYVTFVRHS | QDVLRDKVNE | EMYIERLFDQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| WYNSSMNVIC | TWLTDRMDLQ | LHIYQLKTLI | RMVKKTYRDF | RLQGVLDSTL | NSKTYETIRN |
| 1330 | 1340 | 1350 | |||
| RLTVEEATAS | VSEGGGLQGI | SMKDSDEEDE | EDD |