Q5TCX8
PR
Gene name |
MAP3K21 |
Protein name |
Mitogen-activated protein kinase kinase kinase 21 |
Names |
Mitogen-activated protein kinase kinase kinase MLK4, Mixed lineage kinase 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84451 |
EC number |
2.7.11.25: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
(Annotation based on sequence homology with Q16584)
Mixed lineage kinase 3 (MLK3) is a mitogen-activated protein kinase kinase kinase (MAPKKK) that activates the c-Jun N-terminal kinase (JNK) pathway through the dual phosphorylation of mitogen-activated protein kinase kinases 4/7 (MKK4/7). The catalytic domain of MLK3 is flanked by an N-terminal SH3 domain and a centrally located zipper and Cdc42/Rac-interactive binding (CRIB) motif. Zipper-mediated homo-oligomerization is required for full activity of MLK3, proper substrate phosphorylation, and activation of the JNK pathway. MLK3 is autoinhibited through an interaction between its SH3 domain and a proline-containing sequence between the zipper and the CRIB motif. Activated forms of the small GTPases Cdc42 and Rac interact with MLK3 in a CRIB motif-dependent manner to increase the autophosphorylation of MLK3 and substrate phosphorylation activity and to potentiate MLK3-induced activation of JNK. Activated Cdc42 translocates MLK3 to membranes and induces activation loop phosphorylation of MLK3.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
288-309 (Activation loop)
Target domain |
124-401 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
2 structures for Q5TCX8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4UYA | X-ray | 280 A | A | 115-451 | PDB |
| AF-Q5TCX8-F1 | Predicted | AlphaFoldDB |
834 variants for Q5TCX8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1458547 rs78916182 |
4 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1458548 rs78916182 |
4 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345277596 rs1279063538 |
4 | R>W | No |
ClinGen gnomAD |
|
|
rs1208657419 CA345277606 |
5 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1208657419 CA345277603 |
5 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1458549 rs748005318 |
5 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1194633955 CA345277619 |
6 | A>D | No |
ClinGen gnomAD |
|
|
rs1477879117 CA345277614 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1371030599 CA345277624 |
7 | A>T | No |
ClinGen gnomAD |
|
|
CA345277642 rs1397291516 |
8 | G>E | No |
ClinGen gnomAD |
|
|
rs1173592518 CA345277636 |
8 | G>R | No |
ClinGen gnomAD |
|
|
CA345277648 rs1433178879 |
9 | A>T | No |
ClinGen gnomAD |
|
|
CA345277652 rs1312840934 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA1458551 rs777665995 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316276688 CA345277674 |
13 | P>T | No |
ClinGen gnomAD |
|
|
rs1276771796 CA345277700 |
15 | S>Y | No |
ClinGen gnomAD |
|
|
rs749112581 CA1458552 |
18 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs771213620 CA345277759 |
20 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771213620 CA1458553 |
20 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345277804 rs1488562425 |
24 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345277837 rs898312661 |
27 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA39428940 rs898312661 |
27 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1052899035 CA39428941 |
28 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345277841 rs1314185185 |
28 | S>P | No |
ClinGen TOPMed |
|
|
rs774428970 CA1458555 |
31 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046990875 CA345277890 |
32 | S>* | No |
ClinGen Ensembl |
|
|
CA39428962 rs1046990875 |
32 | S>W | No |
ClinGen Ensembl |
|
|
CA345277893 rs1334032232 |
33 | G>S | No |
ClinGen TOPMed |
|
|
rs887109007 CA39428980 |
34 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345277922 rs772019799 |
35 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772019799 CA1458557 |
35 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345277930 rs1466198945 |
36 | A>T | No |
ClinGen TOPMed |
|
|
CA39429017 rs1019610155 |
39 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345277972 rs1019610155 |
39 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345277987 rs1380835623 |
40 | A>V | No |
ClinGen TOPMed |
|
|
rs761130127 CA1458559 |
41 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1302373941 CA345278011 |
43 | W>G | No |
ClinGen gnomAD |
|
|
rs1572234491 CA345278029 |
44 | A>S | No |
ClinGen Ensembl |
|
|
CA345278046 rs1354403796 |
45 | A>V | No |
ClinGen gnomAD |
|
|
rs764607149 CA1458560 |
47 | Y>* | No |
ClinGen ExAC |
|
|
rs1201138664 CA345278072 |
47 | Y>C | No |
ClinGen TOPMed |
|
|
CA345278086 rs1241077039 |
48 | D>A | No |
ClinGen gnomAD |
|
|
rs776921086 CA1458561 |
48 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484320477 CA345278079 |
48 | D>H | No |
ClinGen TOPMed |
|
|
rs1484320477 CA345278077 |
48 | D>N | No |
ClinGen TOPMed |
|
|
rs1022226712 CA39429046 |
49 | Y>C | No |
ClinGen Ensembl |
|
|
CA39429047 rs968837048 |
52 | R>C | No |
ClinGen Ensembl |
|
|
CA345278176 rs1354921532 |
52 | R>H | No |
ClinGen TOPMed |
|
|
rs1466836721 CA345278194 |
53 | G>S | No |
ClinGen gnomAD |
|
|
CA1458562 rs189326455 CA345278208 |
54 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345278198 rs1193477670 |
54 | E>K | No |
ClinGen gnomAD |
|
|
rs1226140054 CA345278202 |
54 | E>V | No |
ClinGen gnomAD |
|
|
CA345278288 rs1421193256 |
58 | S>N | No |
ClinGen gnomAD |
|
|
CA345278296 rs1244360287 |
59 | L>M | No |
ClinGen TOPMed |
|
|
CA1458563 rs765693174 |
60 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs865985024 CA39429049 |
61 | R>H | No |
ClinGen gnomAD |
|
|
rs12029639 CA345278385 |
63 | Q>H | No |
ClinGen TOPMed |
|
|
rs1403881923 CA345278390 |
64 | L>M | No |
ClinGen TOPMed |
|
|
CA39429057 rs1007004090 |
64 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1392601828 CA345278403 |
65 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1392601828 CA345278407 |
65 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA345278461 rs1461113160 |
69 | S>L | No |
ClinGen gnomAD |
|
|
CA1458565 rs754700942 |
72 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345278507 rs1392881557 |
73 | A>S | No |
ClinGen gnomAD |
|
|
CA345278513 rs1335074997 |
74 | V>L | No |
ClinGen gnomAD |
|
|
rs1274502845 CA345278523 |
76 | G>S | No |
ClinGen gnomAD |
|
|
CA345278537 rs1193982335 |
78 | E>K | No |
ClinGen gnomAD |
|
|
rs1572234578 CA345278548 |
79 | G>V | No |
ClinGen Ensembl |
|
|
CA345278559 rs1212696814 |
80 | W>C | No |
ClinGen gnomAD |
|
|
CA345278561 rs1425702912 |
81 | W>R | No |
ClinGen TOPMed |
|
|
rs1258229118 CA345278569 |
82 | A>T | No |
ClinGen gnomAD |
|
|
CA345278575 rs1481840759 |
83 | G>S | No |
ClinGen gnomAD |
|
|
CA1458566 rs766897239 |
84 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1243988439 CA345278605 |
87 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345278607 rs1424872889 |
88 | R>S | No |
ClinGen gnomAD |
|
|
rs1448174086 CA345278613 |
89 | L>F | No |
ClinGen gnomAD |
|
|
CA39429123 rs962745429 |
90 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1220731579 CA345278628 |
91 | I>T | No |
ClinGen TOPMed |
|
|
CA345278625 rs1288554191 |
91 | I>V | No |
ClinGen TOPMed |
|
|
rs918721729 CA39429138 |
93 | P>S | No |
ClinGen TOPMed |
|
|
rs756061340 CA1458568 |
94 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345278653 rs1386442292 |
95 | N>S | No |
ClinGen gnomAD |
|
|
CA1458569 rs777860204 |
96 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1296211612 CA345278666 |
97 | V>L | No |
ClinGen gnomAD |
|
|
CA39429201 rs528887564 |
98 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA345278671 rs528887564 |
98 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749308249 CA1458570 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199779701 CA1458571 |
99 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1044791348 CA345278688 |
101 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1295878138 CA345278691 |
101 | R>L | No |
ClinGen gnomAD |
|
|
rs1044791348 CA39429224 |
101 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778814962 CA345278696 |
102 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458572 rs778814962 |
102 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251099288 CA345278705 |
104 | A>S | No |
ClinGen gnomAD |
|
|
rs1483896921 CA345278708 |
104 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1194456075 CA345278726 |
107 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs931094494 CA39429243 |
107 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345278727 rs1194456075 |
107 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1047019697 CA39429245 |
108 | P>L | No |
ClinGen Ensembl |
|
|
CA345278743 rs1212198325 |
109 | P>L | No |
ClinGen TOPMed |
|
|
rs1052974464 CA39429253 |
109 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs531396904 CA39429262 |
114 | S>G | No |
ClinGen 1000Genomes |
|
|
rs1255555413 CA345278812 |
114 | S>N | No |
ClinGen TOPMed |
|
|
rs998137407 CA39429265 |
115 | S>C | No |
ClinGen TOPMed |
|
|
CA345278831 rs1314689500 |
115 | S>P | No |
ClinGen gnomAD |
|
|
CA1458575 rs775382841 |
116 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889682544 CA39429283 |
117 | V>L | No |
ClinGen TOPMed |
|
|
rs747104849 CA1458576 |
118 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345278896 rs1330353734 |
119 | V>L | No |
ClinGen TOPMed |
|
|
rs1288910170 CA345278929 |
121 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327729672 CA345278976 |
123 | R>L | No |
ClinGen gnomAD |
|
|
rs777111160 CA1458578 |
126 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA39429308 rs1007321871 |
129 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1458579 rs762358692 |
131 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1278879074 CA345279117 |
132 | A>S | No |
ClinGen gnomAD |
|
|
rs899803602 CA39429317 |
132 | A>V | No |
ClinGen gnomAD |
|
|
CA39429325 rs868116055 |
135 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345279177 CA345279179 rs867066661 |
136 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA39429329 rs867066661 |
136 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA345279196 rs1263517796 |
137 | Q>K | No |
ClinGen gnomAD |
|
|
rs1484902101 CA345279235 |
140 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867543710 CA39429332 |
140 | R>S | No |
ClinGen Ensembl |
|
|
rs1174592007 CA345279249 |
142 | T>I | No |
ClinGen TOPMed |
|
|
CA1458580 rs765488772 |
144 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345279261 rs1454566276 |
144 | Q>P | No |
ClinGen gnomAD |
|
|
rs1175259352 CA345279286 |
147 | E>D | No |
ClinGen gnomAD |
|
|
CA345279296 rs1378522471 |
149 | A>T | No |
ClinGen TOPMed |
|
|
CA1458582 rs759066454 |
150 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346466434 CA345279324 |
153 | A>V | No |
ClinGen gnomAD |
|
|
rs1238116303 CA345279325 |
154 | R>C | No |
ClinGen TOPMed |
|
|
CA345279328 rs1427952681 |
154 | R>H | No |
ClinGen gnomAD |
|
|
CA39429343 rs1021675837 |
156 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345279358 rs1443626912 |
158 | E>D | No |
ClinGen gnomAD |
|
|
rs1301701425 CA345279368 |
160 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1343894222 CA345279380 |
161 | A>G | No |
ClinGen TOPMed |
|
|
rs1217068051 CA345279377 |
161 | A>P | No |
ClinGen TOPMed |
|
|
CA345279381 rs1343894222 |
161 | A>V | No |
ClinGen TOPMed |
|
|
rs1224841230 CA345279386 |
162 | A>V | No |
ClinGen gnomAD |
|
|
rs904710304 CA39429344 |
163 | A>G | No |
ClinGen Ensembl |
|
|
CA345279394 rs1315233167 |
164 | A>P | No |
ClinGen gnomAD |
|
|
rs767215686 CA345279402 |
165 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767215686 CA1458585 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458586 rs752190705 |
166 | E>* | No |
ClinGen ExAC |
|
|
CA345279412 rs1469967295 |
167 | S>G | No |
ClinGen gnomAD |
|
|
CA345279417 rs760260263 CA345279418 |
167 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345279421 rs1250891723 |
168 | V>L | No |
ClinGen gnomAD |
|
|
rs1177713321 CA345279431 |
170 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1458589 rs753802059 |
170 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345279435 rs1157699639 |
171 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA39429358 rs868404778 |
172 | A>V | No |
ClinGen Ensembl |
|
|
rs778528492 CA1458591 |
173 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA345279453 rs1414080443 |
174 | L>V | No |
ClinGen TOPMed |
|
|
rs1174616855 CA345279489 |
179 | R>P | No |
ClinGen TOPMed |
|
|
rs1371781530 CA345279494 |
180 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345279529 rs1337296399 |
185 | E>* | No |
ClinGen gnomAD |
|
|
rs1558447338 CA345279546 |
188 | G>S | No |
ClinGen Ensembl |
|
|
rs1212065780 CA345279554 |
189 | V>L | No |
ClinGen gnomAD |
|
|
rs1212065780 CA345279553 |
189 | V>M | No |
ClinGen gnomAD |
|
|
rs1442111909 CA345279564 |
190 | C>* | No |
ClinGen TOPMed |
|
|
CA39429393 rs867210437 |
192 | Q>K | No |
ClinGen Ensembl |
|
|
CA345279580 rs1239428032 |
193 | Q>* | No |
ClinGen TOPMed |
|
|
CA1458593 rs758491045 |
194 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1207423084 CA345279594 |
195 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204891905 CA345279600 |
196 | L>F | No |
ClinGen gnomAD |
|
|
CA345279608 rs1244225274 |
197 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs866251348 CA39429407 |
198 | L>M | No |
ClinGen Ensembl |
|
|
rs960845274 CA39429415 |
198 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345279651 rs1393218190 |
204 | R>C | No |
ClinGen gnomAD |
|
|
rs1351280984 CA345279652 |
204 | R>H | No |
ClinGen TOPMed |
|
|
CA345279653 rs1351280984 |
204 | R>P | No |
ClinGen TOPMed |
|
|
CA39429434 rs1024323146 |
209 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345279720 rs1379060438 |
209 | N>K | No |
ClinGen TOPMed |
|
|
CA39429435 rs969625131 |
210 | R>Q | No |
ClinGen TOPMed |
|
|
rs1257287685 CA345279742 |
212 | L>V | No |
ClinGen TOPMed |
|
|
rs1360234659 CA345279755 |
213 | A>D | No |
ClinGen TOPMed |
|
|
rs1418228656 CA345279752 |
213 | A>T | No |
ClinGen TOPMed |
|
|
rs1421989334 CA345279763 |
214 | A>S | No |
ClinGen TOPMed |
|
|
CA39429436 rs980182098 |
215 | A>T | No |
ClinGen TOPMed |
|
|
rs1353335949 CA345279792 |
217 | A>T | No |
ClinGen gnomAD |
|
|
CA39429437 rs925600456 |
218 | A>T | No |
ClinGen TOPMed |
|
|
CA345279811 rs1442098829 |
218 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345279823 rs1313958823 |
219 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345279821 rs1313958823 |
219 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345279830 rs1457075981 |
220 | D>A | No |
ClinGen gnomAD |
|
|
rs935774212 CA39429442 |
220 | D>Y | No |
ClinGen TOPMed |
|
|
CA39429467 rs533375574 |
224 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1357192577 CA345279907 |
225 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1215015571 CA345279945 |
226 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1274845070 CA345279955 |
227 | R>C | No |
ClinGen gnomAD |
|
|
rs781290149 CA1458597 |
227 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA345279994 rs1383422945 |
229 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs546872357 CA1458599 |
230 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1310278289 CA345280028 |
231 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1310278289 CA345280034 |
231 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1310278289 CA345280031 |
231 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345280022 rs1367573036 |
231 | R>S | No |
ClinGen gnomAD |
|
|
CA345280063 rs566862424 |
233 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA39429498 rs1025072297 |
233 | P>L | No |
ClinGen TOPMed |
|
|
CA39429493 rs566862424 |
233 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA345280086 rs1170065241 |
234 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345280099 rs1558447461 |
235 | H>P | No |
ClinGen Ensembl |
|
|
CA1458601 rs763384075 |
235 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA39429499 rs913098391 |
235 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345280144 rs1409680047 |
238 | V>I | No |
ClinGen gnomAD |
|
|
CA345280237 CA1458603 rs778992107 |
242 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345280281 rs1312349358 |
244 | I>V | No |
ClinGen gnomAD |
|
|
rs867761976 CA39429511 |
245 | A>E | No |
ClinGen Ensembl |
|
|
CA39429516 rs1050924829 |
249 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39429519 rs866229902 |
252 | H>N | No |
ClinGen Ensembl |
|
|
rs866748779 CA39429534 |
254 | E>* | No |
ClinGen gnomAD |
|
|
CA1458606 rs753426624 |
261 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1572235079 CA345280713 |
263 | D>G | No |
ClinGen Ensembl |
|
|
rs1349928656 CA345280699 |
263 | D>H | No |
ClinGen gnomAD |
|
|
CA39429556 rs868710250 |
264 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 265 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345285079 rs1328102548 |
273 | E>G | No |
ClinGen gnomAD |
|
|
CA345285076 rs1462150014 |
273 | E>Q | No |
ClinGen gnomAD |
|
|
rs776223627 CA1458625 |
275 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1438389561 CA345285096 |
275 | I>M | No |
ClinGen gnomAD |
|
|
rs369901040 CA39442725 |
276 | E>* | No |
ClinGen ESP gnomAD |
|
|
CA345285105 rs1323638010 |
277 | H>Y | No |
ClinGen TOPMed |
|
|
rs1439801092 CA345285119 |
278 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144548290 CA39442727 |
282 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774545944 CA39442754 |
282 | N>S | No |
ClinGen gnomAD |
|
|
rs774545944 CA345285145 |
282 | N>T | No |
ClinGen gnomAD |
|
|
CA1458626 rs761390050 |
283 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345285176 rs1327805203 |
286 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345285205 rs1213936891 |
290 | F>L | No |
ClinGen gnomAD |
|
|
CA39442762 rs905561133 |
291 | G>V | No |
ClinGen Ensembl |
|
|
CA1458627 rs764718884 |
292 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773185929 CA1458628 COSM176499 |
293 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 295 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1458629 rs762839993 |
295 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766123919 CA1458630 |
295 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA345285241 rs1421396237 |
296 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 301 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1475537784 | 302 | M>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754128246 CA39442774 |
302 | M>I | No |
ClinGen Ensembl |
|
|
rs752932960 CA1458634 |
306 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756208185 CA345285312 |
307 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458635 rs756208185 |
307 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193250006 CA345285320 |
308 | Y>C | No |
ClinGen TOPMed |
|
|
rs777767106 CA1458636 |
308 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1340201 CA345285324 rs1454941657 |
309 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1248849963 CA345285336 |
310 | W>* | No |
ClinGen TOPMed |
|
|
rs779367692 CA1458639 COSM210360 |
314 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345285377 rs1252241140 |
316 | I>T | No |
ClinGen gnomAD |
|
|
CA345285374 rs1271660833 |
316 | I>V | No |
ClinGen TOPMed |
|
|
rs1481788846 CA345285388 |
318 | S>A | No |
ClinGen gnomAD |
|
|
rs768355973 CA1458641 |
320 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572243633 CA345285418 |
322 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345285465 rs1486052733 COSM1579004 |
326 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 331 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345287513 rs1228054565 |
334 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1356933388 CA345287519 |
334 | L>P | No |
ClinGen gnomAD |
|
|
CA345287541 rs1465073153 |
335 | W>C | No |
ClinGen gnomAD |
|
|
rs1438092006 CA345287572 |
338 | L>F | No |
ClinGen TOPMed |
|
|
rs758820797 CA1458658 |
339 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137957310 CA1458660 |
340 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345287645 rs1231198237 |
344 | Y>C | No |
ClinGen gnomAD |
|
|
rs976271927 CA39447841 |
345 | R>Q | No |
ClinGen Ensembl |
|
|
COSM372589 CA1458661 rs145103476 |
345 | R>W | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1458662 rs142222347 |
347 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345287704 rs1374749037 |
349 | G>D | No |
ClinGen TOPMed |
|
|
CA1458665 rs770498631 |
351 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
COSM167086 rs759521299 CA1458667 |
352 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345287778 rs1558456152 |
355 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs775175910 CA1458669 |
356 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345287824 rs1206652587 |
359 | N>S | No |
ClinGen gnomAD |
|
|
CA1458670 rs568426757 |
362 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA39447909 rs951809109 |
364 | P>R | No |
ClinGen TOPMed |
|
|
rs865796045 CA39447915 |
366 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs556855390 CA1458672 |
367 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 369 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759012065 CA345287952 |
370 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759012065 CA1458676 |
370 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455302766 CA345287967 |
371 | E>G | No |
ClinGen gnomAD |
|
|
CA1458678 rs367916222 |
372 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39447989 rs367916222 |
372 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1458677 rs780419030 COSM3377039 |
372 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs780419030 CA345287973 |
372 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1273638070 CA345287997 |
374 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1458680 rs777289504 |
375 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327714176 CA345288031 |
377 | M>L | No |
ClinGen TOPMed |
|
|
rs1327714176 CA345288032 |
377 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs140478096 CA39448924 |
379 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA39448929 rs769706439 |
381 | W>C | No |
ClinGen gnomAD |
|
|
CA345288105 rs1369219648 |
382 | Q>* | No |
ClinGen gnomAD |
|
|
rs1468240239 CA345288133 |
386 | H>N | No |
ClinGen TOPMed |
|
|
rs147840383 CA39448932 |
386 | H>P | No |
ClinGen ESP |
|
|
rs760131150 CA1458724 |
388 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1337791410 CA345288149 |
388 | R>H | No |
ClinGen TOPMed |
|
|
rs753079246 CA1458726 |
390 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 390 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377180118 CA1458733 |
396 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM167676 rs550700262 CA1458731 |
396 | E>K | Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs550700262 CA1458732 |
396 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA39449013 rs866146932 |
397 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 397 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781078232 CA1458734 |
397 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA345288288 rs1341843702 |
400 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 400 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345288295 rs1280441520 |
400 | A>V | No |
ClinGen gnomAD |
|
|
rs1223732721 CA345288309 |
401 | I>T | No |
ClinGen gnomAD |
|
|
CA345288302 rs1443578667 |
401 | I>V | No |
ClinGen gnomAD |
|
|
CA345288334 rs1185006519 |
403 | G>R | No |
ClinGen gnomAD |
|
|
CA39449015 rs967329957 |
404 | A>S | No |
ClinGen TOPMed |
|
|
CA1458735 rs369936974 |
408 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019632774 CA39449023 |
409 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA39449016 rs763083575 |
409 | M>L | No |
ClinGen Ensembl |
|
|
CA1458736 rs140768205 |
409 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749577623 CA1458738 |
411 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1458740 rs774523337 |
413 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759915161 COSM1340204 CA1458741 |
415 | H>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA39449058 rs564529058 |
416 | S>F | No |
ClinGen 1000Genomes |
|
|
rs533478743 CA1458742 |
417 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1458743 rs146980221 |
419 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_040729 CA1458744 rs35465006 |
420 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764497042 CA1458745 |
421 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1227585366 CA345288636 |
425 | I>T | No |
ClinGen gnomAD |
|
|
CA1458746 rs373128635 |
428 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1436289100 CA345288655 |
428 | M>L | No |
ClinGen TOPMed |
|
|
CA39449106 rs373128635 |
428 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA345288670 rs1346537323 COSM3804377 COSM3804378 |
430 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs751102005 CA1458749 |
433 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1196713541 CA345288695 |
433 | R>T | No |
ClinGen TOPMed |
|
|
rs1009341796 CA39449149 |
434 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1458750 rs754806261 |
434 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA39449167 rs139337803 COSM107155 |
436 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA39454313 rs1017446503 |
438 | E>* | No |
ClinGen Ensembl |
|
|
CA1458773 COSM282208 rs375663065 |
438 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA39454319 rs897273504 |
438 | E>G | No |
ClinGen Ensembl |
|
|
CA345288890 rs757351496 |
440 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA345288900 rs1377659460 |
441 | S>F | No |
ClinGen TOPMed |
|
|
rs779186370 COSM1340205 CA1458775 |
442 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345288922 rs1247153589 |
445 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764234299 CA1458778 |
447 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs955532106 CA345288941 |
448 | R>P | No |
ClinGen gnomAD |
|
|
rs955532106 CA39454359 |
448 | R>Q | No |
ClinGen gnomAD |
|
|
CA345288940 rs1209805193 |
448 | R>W | No |
ClinGen gnomAD |
|
|
rs769173504 CA345288952 |
450 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769173504 CA345288953 |
450 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1458780 rs769173504 |
450 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1323109644 CA345288979 |
454 | K>R | No |
ClinGen gnomAD |
|
|
rs1475649218 CA345288997 |
457 | E>K | No |
ClinGen gnomAD |
|
|
CA345289008 rs1470904596 |
458 | E>A | No |
ClinGen TOPMed |
|
|
CA1458781 rs201031434 |
458 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345289020 rs1369982833 |
460 | L>P | No |
ClinGen gnomAD |
|
|
CA1458782 rs149651212 |
462 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1186816823 CA345289037 |
463 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345289079 rs1305629253 |
469 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1485755304 CA345289075 |
469 | E>K | No |
ClinGen TOPMed |
|
|
CA345289080 rs1305629253 |
469 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1316085179 CA345289083 |
470 | R>G | No |
ClinGen TOPMed |
|
|
rs1264513513 CA345289102 |
472 | I>T | No |
ClinGen gnomAD |
|
|
rs774035001 CA1458784 |
473 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs267598417 CA39454456 |
478 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 478 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345289153 rs1244492477 |
480 | N>S | No |
ClinGen gnomAD |
|
|
CA39454483 rs968833172 |
490 | K>T | No |
ClinGen TOPMed |
|
|
rs1357660508 CA345289229 |
491 | P>S | No |
ClinGen TOPMed |
|
|
CA345289237 rs964751231 |
492 | K>R | No |
ClinGen Ensembl |
|
|
CA39454490 rs964751231 |
492 | K>T | No |
ClinGen Ensembl |
|
|
rs757059635 CA1458791 |
493 | V>I | No |
ClinGen ExAC |
|
|
rs778618563 CA1458792 |
494 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183848176 CA345289251 |
494 | K>N | No |
ClinGen gnomAD |
|
|
rs1254280657 CA345289278 |
498 | G>D | No |
ClinGen gnomAD |
|
|
rs200126419 CA39454501 |
500 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1320881896 CA345289302 |
501 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1390773752 CA345289315 |
503 | S>I | No |
ClinGen gnomAD |
|
|
rs200368585 CA1458794 |
504 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345289330 rs1415030527 |
505 | L>F | No |
ClinGen TOPMed |
|
|
rs1558459132 CA345289343 |
507 | L>P | No |
ClinGen Ensembl |
|
|
rs1166565900 CA345289349 |
508 | K>R | No |
ClinGen gnomAD |
|
|
CA345289365 rs1369435604 |
510 | G>A | No |
ClinGen gnomAD |
|
|
rs1346049843 CA345289378 |
512 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 514 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755081086 CA1458797 |
514 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781344963 CA1458799 |
517 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781715159 CA1458798 |
517 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229276980 CA345290670 COSM1158266 |
525 | V>M | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs906376256 CA39462206 |
526 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758557686 CA1458812 |
527 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206559424 CA345290718 |
529 | P>S | No |
ClinGen gnomAD |
|
|
rs765907842 CA39462209 |
530 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766591235 CA1458813 |
531 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345290761 rs1380808947 |
532 | D>Y | No |
ClinGen TOPMed |
|
|
CA1458816 rs781171520 COSM679037 |
534 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1458814 rs149965923 |
534 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748650251 CA1458817 |
535 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572255565 CA345290805 COSM1578980 |
535 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs545718767 CA39462221 |
536 | S>I | No |
ClinGen gnomAD |
|
|
CA345290853 rs1572255578 |
538 | N>K | No |
ClinGen Ensembl |
|
|
rs1389074571 CA345290848 |
538 | N>S | No |
ClinGen TOPMed |
|
|
rs756604986 CA1458818 |
539 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989907220 CA39462240 |
540 | S>I | No |
ClinGen TOPMed |
|
|
CA39462241 rs1020937120 |
541 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1458820 rs201787500 |
541 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1458819 rs201787500 |
541 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1458822 rs555966831 |
542 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555966831 CA1458821 |
542 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1004308597 CA39462263 |
543 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345290922 rs1367026677 |
543 | S>N | No |
ClinGen gnomAD |
|
|
CA1458823 rs148604151 |
545 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1458825 rs776034775 |
547 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761759757 CA1458826 |
548 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201768172 CA1458828 |
549 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1458827 rs201768172 |
549 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762723841 CA1458829 |
550 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA345291012 rs1322026992 |
550 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 551 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39462314 rs201445057 COSM1578984 |
553 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1458830 rs766210520 COSM245262 |
553 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1182227655 CA345291090 |
555 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345291080 rs1182227655 |
555 | R>G | No |
ClinGen gnomAD |
|
|
CA1458831 rs751751975 |
555 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1253611729 CA345291107 |
556 | A>D | No |
ClinGen gnomAD |
|
|
CA1458834 rs752734883 |
557 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458833 rs767587638 |
557 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458832 rs755187590 |
557 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs547287571 CA345291119 |
558 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs750795680 CA1458835 |
558 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1458857 rs779369677 |
559 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs750764987 CA1458858 |
562 | D>N | No |
ClinGen ExAC gnomAD |
|
|
VAR_040730 CA1458860 rs35758282 |
563 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754592533 CA1458859 |
563 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1352713909 CA345280766 |
564 | S>G | No |
ClinGen TOPMed |
|
|
rs540738511 CA1458861 |
564 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1458862 rs151099146 |
565 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345280801 rs1242163851 |
566 | K>R | No |
ClinGen TOPMed |
|
|
CA345280852 rs1357931431 |
569 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 572 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777297213 CA1458863 |
574 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374695182 CA345280938 |
575 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374695182 COSM3705638 CA1458864 |
575 | R>Q | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1458865 rs540174311 |
577 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345280953 rs1299156646 |
577 | E>Q | No |
ClinGen gnomAD |
|
|
rs1350727140 CA345281005 |
581 | D>Y | No |
ClinGen gnomAD |
|
|
rs1173229232 CA345281033 |
583 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 584 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345281069 rs1342540602 |
586 | F>C | No |
ClinGen TOPMed |
|
|
rs774131913 CA1458866 |
586 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345281073 rs1419549835 |
587 | K>Q | No |
ClinGen TOPMed |
|
|
CA345281089 rs1333707877 |
588 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759249543 CA1458867 |
588 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1322516360 CA345281113 |
590 | G>D | No |
ClinGen gnomAD |
|
| rs1412993608 | 590 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362942071 CA345281126 |
591 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 593 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867466724 CA39429614 |
595 | P>S | No |
ClinGen Ensembl |
|
|
rs913175116 CA39429617 |
596 | N>H | No |
ClinGen TOPMed |
|
|
CA345281189 rs34984140 |
597 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34984140 CA1458869 VAR_040731 |
597 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760993548 CA1458870 |
598 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 599 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764225816 COSM4143523 CA1458871 |
600 | M>I | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1558463530 CA345281235 |
601 | K>R | No |
ClinGen Ensembl |
|
|
rs753986648 CA1458872 |
602 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762349872 CA1458873 |
603 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1210934083 CA345281271 |
604 | T>R | No |
ClinGen gnomAD |
|
|
rs1446914105 CA345281287 |
606 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1458875 rs562126234 |
608 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440648439 CA345281325 |
609 | R>K | No |
ClinGen gnomAD |
|
|
rs773561936 CA1458892 |
610 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345281370 rs1163817970 |
610 | I>V | No |
ClinGen gnomAD |
|
|
rs1440398611 CA345281396 |
612 | P>R | No |
ClinGen TOPMed |
|
|
COSM1295998 rs947905288 CA39430021 |
612 | P>T | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1458894 rs766605671 |
615 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345281421 rs766605671 |
615 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs571069552 CA1458895 |
617 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1458896 rs769202433 |
618 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458897 rs769202433 |
618 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12569066 CA39430048 |
621 | S>A | No |
ClinGen Ensembl |
|
|
rs1286028352 CA345281491 |
621 | S>L | No |
ClinGen gnomAD |
|
|
rs139378773 CA1458898 |
622 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756742008 CA1458899 |
623 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756742008 CA345281505 |
623 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345281500 rs1267825362 |
623 | I>V | No |
ClinGen gnomAD |
|
|
rs866784112 CA39430067 |
624 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 624 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865938641 CA39430086 |
626 | K>E | No |
ClinGen gnomAD |
|
|
rs778520993 CA1458901 |
627 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1458902 rs745749354 |
632 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345281622 rs1418321967 |
634 | A>S | No |
ClinGen gnomAD |
|
|
rs758374883 CA1458903 |
634 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345281647 rs1162776349 |
637 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1458905 rs199676200 |
638 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345281699 rs1296134892 |
641 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 642 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1458907 rs138394059 |
642 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754798462 CA1458927 |
644 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345282684 rs370420185 |
647 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370420185 CA1458928 |
647 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324176504 CA345282693 |
648 | K>R | No |
ClinGen TOPMed |
|
|
rs1324176504 CA345282692 |
648 | K>T | No |
ClinGen TOPMed |
|
|
rs574425452 CA1458929 |
649 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA345282722 rs1395471727 |
651 | P>S | No |
ClinGen TOPMed |
|
|
rs770070247 CA1458930 CA345282738 |
652 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 652 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39431803 rs1005544607 |
653 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 654 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777648789 CA1458931 |
659 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458932 rs749385401 |
659 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA39431832 rs777648789 |
659 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 663 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345282882 rs770977397 |
664 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774821155 CA1458934 |
665 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 665 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260475595 CA345282888 |
665 | P>S | No |
ClinGen gnomAD |
|
|
rs1177858928 CA345282899 |
666 | S>N | No |
ClinGen gnomAD |
|
|
CA345282926 rs1426728207 |
668 | A>G | No |
ClinGen gnomAD |
|
|
CA1458935 rs760071334 |
669 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345282945 rs1391215689 |
670 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 671 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449565191 CA345282969 |
672 | L>I | No |
ClinGen TOPMed |
|
|
rs1249301370 CA345282983 |
673 | P>L | No |
ClinGen TOPMed |
|
|
rs761317015 CA345283048 |
679 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761317015 CA1458938 |
679 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764950049 CA1458939 |
681 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1428149213 CA345283080 |
682 | N>T | No |
ClinGen gnomAD |
|
|
rs369149071 CA1458941 |
683 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1345105319 CA345283090 |
683 | P>T | No |
ClinGen gnomAD |
|
|
CA1458942 rs41314276 |
685 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345283134 rs1391371368 |
687 | E>G | No |
ClinGen gnomAD |
|
|
CA345283149 rs1168368887 |
688 | S>R | No |
ClinGen gnomAD |
|
|
CA345283157 COSM905694 rs1357563732 |
689 | W>* | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1572259058 CA345283153 |
689 | W>G | No |
ClinGen Ensembl |
|
|
rs1213590654 CA345283171 |
690 | E>* | No |
ClinGen gnomAD |
|
|
CA345283173 rs1572259065 |
690 | E>G | No |
ClinGen Ensembl |
|
|
rs576680939 CA39431938 |
691 | E>G | No |
ClinGen 1000Genomes |
|
|
CA1458943 rs751511846 |
692 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345283225 rs202108267 |
695 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202108267 CA345283224 |
695 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202108267 CA1458945 |
695 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345283241 rs1233637644 |
697 | A>S | No |
ClinGen TOPMed |
|
|
rs1479911972 CA345283264 |
699 | T>I | No |
ClinGen gnomAD |
|
|
CA1458948 rs372701897 |
701 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1399269576 CA345283292 |
702 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345283302 rs1435165537 |
703 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345283297 rs1159078115 |
703 | E>Q | No |
ClinGen gnomAD |
|
|
CA345283320 rs1396169522 COSM533147 |
704 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA39431943 rs985078087 |
704 | M>V | No |
ClinGen TOPMed |
|
|
rs778040401 CA1458949 |
707 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345283353 rs1298159227 |
708 | N>Y | No |
ClinGen gnomAD |
|
|
rs978421000 CA39431952 |
709 | S>G | No |
ClinGen TOPMed |
|
|
CA345283384 rs1301388514 |
710 | L>R | No |
ClinGen gnomAD |
|
|
CA1458952 rs778991751 |
711 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458953 rs375982651 |
712 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs913038876 CA345283417 |
713 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA39431988 rs913038876 |
713 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1322245837 CA345283422 |
714 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs1375324580 | 715 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141745720 CA1458955 |
719 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747397890 CA1458956 |
720 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA39432027 rs868137436 |
722 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 722 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768961844 CA1458957 |
723 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA345283510 rs1426079146 |
724 | Y>C | No |
ClinGen gnomAD |
|
|
rs1414903329 CA345283507 |
724 | Y>H | No |
ClinGen gnomAD |
|
|
CA1458958 rs76363344 |
725 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765937681 CA1458960 |
726 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs3795375 CA1458963 VAR_040732 |
728 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1458965 rs549958993 |
729 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1458966 COSM48471 rs549958993 |
729 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA345283574 rs1379545496 |
731 | A>S | No |
ClinGen gnomAD |
|
|
CA1458968 rs750067830 |
732 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1312772388 CA345283582 |
732 | S>T | No |
ClinGen gnomAD |
|
|
rs745954284 CA1458970 |
733 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA345283609 rs1435730142 |
734 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1458974 rs747520815 |
738 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA345283653 rs1450237505 |
739 | L>F | No |
ClinGen gnomAD |
|
|
CA1458975 rs532333033 |
740 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_040733 rs3795374 CA1458976 |
741 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA39432170 rs953653095 |
743 | H>Q | No |
ClinGen Ensembl |
|
|
CA345283707 rs1409616263 |
744 | K>R | No |
ClinGen gnomAD |
|
|
CA39432186 rs369354261 |
745 | A>T | No |
ClinGen ESP |
|
|
rs1173787630 CA345283741 |
747 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 750 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769713740 CA39432206 |
751 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1458978 rs769713740 |
751 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345283787 rs769713740 |
751 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748912146 CA1458977 |
751 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345283783 rs748912146 |
751 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1458983 rs142410514 |
758 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1458984 rs373332852 COSM2157259 |
760 | R>* | central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs565964163 CA1458986 |
760 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565964163 CA1458985 |
760 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs989837618 CA39432240 |
761 | E>K | No |
ClinGen Ensembl |
|
|
rs200336839 CA1458990 |
766 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151314713 CA1458988 |
766 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 767 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39432285 rs928580242 |
770 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1465760225 CA345284005 |
771 | R>C | No |
ClinGen gnomAD |
|
|
CA1458991 rs147033124 |
771 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345284007 rs147033124 |
771 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1458992 rs755453254 |
773 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA1458993 rs755453254 |
773 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345284033 rs770338601 |
774 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770338601 CA1458995 |
774 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778682974 CA1458996 |
774 | A>V | No |
ClinGen ExAC |
|
|
CA345284047 rs1470872830 |
775 | S>I | No |
ClinGen gnomAD |
|
|
rs909181802 CA39432318 |
777 | P>L | No |
ClinGen gnomAD |
|
|
CA1458997 rs745552214 |
778 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771665013 CA1458998 |
778 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1458999 rs138819328 |
779 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345284100 rs1324221632 |
781 | P>S | No |
ClinGen gnomAD |
|
|
CA345284107 rs1429372337 |
782 | S>A | No |
ClinGen gnomAD |
|
|
CA1459001 rs760607195 |
783 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1459000 rs760607195 |
783 | T>S | No |
ClinGen ExAC gnomAD |
|
|
VAR_040734 CA1459002 rs963981 |
784 | C>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1459003 rs963981 |
784 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345284130 rs1209428117 |
784 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1459004 rs765068135 |
787 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207436589 CA345284166 |
788 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1459005 rs750614925 |
788 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345284167 rs1207436589 |
788 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766434450 CA1459007 |
789 | S>T | No |
ClinGen ExAC |
|
|
rs201918619 CA1459009 |
792 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1558464885 CA345284217 |
794 | P>T | No |
ClinGen Ensembl |
|
|
rs1425854465 CA345284244 |
796 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1459014 rs41305715 |
801 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745464954 CA1459015 |
803 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs377050306 CA1459016 |
804 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1459018 rs779554879 |
806 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1459017 rs779554879 |
806 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370255677 CA1459020 |
807 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351542817 CA345284356 |
808 | S>P | No |
ClinGen gnomAD |
|
|
rs761780046 CA1459021 |
810 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA345284386 rs1278365743 |
811 | C>R | No |
ClinGen gnomAD |
|
|
CA39432466 rs940875680 |
812 | L>Q | No |
ClinGen TOPMed |
|
|
CA345284446 rs1159221211 |
816 | D>G | No |
ClinGen gnomAD |
|
|
CA345284520 rs773012919 |
823 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199748531 CA39432479 |
825 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA345284547 rs1361786010 |
826 | P>S | No |
ClinGen gnomAD |
|
|
rs766505453 CA1459027 |
829 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320850754 CA345284609 |
833 | M>I | No |
ClinGen TOPMed |
|
|
rs1558464966 CA345284605 |
833 | M>V | No |
ClinGen Ensembl |
|
|
CA39432482 rs781489128 |
836 | P>L | No |
ClinGen TOPMed |
|
|
rs759510536 CA345284668 |
842 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759510536 CA1459029 |
842 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1459031 rs753212647 |
843 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1459030 rs146176484 |
843 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246193613 CA345284682 |
845 | S>C | No |
ClinGen gnomAD |
|
|
CA345284685 rs1317750009 |
845 | S>I | No |
ClinGen gnomAD |
|
|
CA1459032 rs756706460 |
846 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778222765 CA1459033 |
847 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1459034 rs150526004 |
847 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345284696 rs150526004 |
847 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA39432512 rs201407213 |
848 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1459035 rs561085876 |
848 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345284712 rs1252604624 |
850 | A>D | No |
ClinGen TOPMed |
|
|
rs1252604624 CA345284714 COSM905698 |
850 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs779561843 CA1459036 |
851 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345284715 rs779561843 |
851 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746727047 CA1459037 |
852 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA345284730 rs1244863881 |
853 | P>S | No |
ClinGen gnomAD |
|
|
rs754416046 CA1459038 |
856 | D>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1340208 CA345284763 rs1373094855 |
858 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA345284761 rs1271537294 |
858 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 858 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165742801 CA345284770 |
859 | C>G | No |
ClinGen gnomAD |
|
|
CA345284768 rs1165742801 |
859 | C>S | No |
ClinGen gnomAD |
|
|
rs1214457755 CA345284777 |
860 | S>G | No |
ClinGen TOPMed |
|
|
CA1459039 rs780713959 |
860 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 861 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1459041 rs563076356 |
863 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1459042 rs773198996 |
864 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760993530 CA1459045 |
866 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1459044 rs760993530 |
866 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749023251 CA1459043 |
866 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1459048 rs775720657 |
871 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA345284843 rs775720657 |
871 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1338553845 CA345284850 |
872 | Q>K | No |
ClinGen gnomAD |
|
|
CA345284854 rs1204055433 |
872 | Q>R | No |
ClinGen gnomAD |
|
|
rs764697606 CA1459050 |
874 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754457529 CA1459051 |
874 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373706744 CA1459052 |
875 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1459055 rs751135056 |
878 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765676884 CA1459054 |
878 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1459056 rs754682532 |
879 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs967153290 CA39432637 |
881 | A>S | No |
ClinGen Ensembl |
|
|
CA1459057 rs780624018 |
884 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA345284939 rs1289916992 |
885 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs563793926 CA1459058 |
887 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563793926 CA345284949 |
887 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345284948 rs1022071835 |
887 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA39432641 rs1022071835 |
887 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345284961 rs1346375809 |
889 | H>R | No |
ClinGen gnomAD |
|
|
CA39432646 rs928452537 |
891 | R>G | No |
ClinGen Ensembl |
|
|
CA1459061 rs141838950 |
892 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs55681416 VAR_040735 CA1459060 |
892 | R>W | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1321101046 CA345284985 |
893 | T>N | No |
ClinGen gnomAD |
|
|
CA345284992 rs1486599221 |
894 | M>K | No |
ClinGen gnomAD |
|
|
CA1459062 rs770589039 |
894 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA345285021 rs1202840151 |
898 | N>I | No |
ClinGen gnomAD |
|
|
CA1459064 rs111921576 |
899 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1459063 rs774215819 |
899 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_040736 CA1459066 rs34499091 |
900 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345285033 rs1347462702 |
901 | P>S | No |
ClinGen gnomAD |
|
|
CA1459067 rs760828507 |
902 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA39434160 rs555395590 |
903 | G>R | No |
ClinGen gnomAD |
|
|
CA39434166 rs898897273 |
905 | T>A | No |
ClinGen TOPMed |
|
|
CA1459081 rs534087089 |
906 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553371295 CA1459084 |
907 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1459083 rs772053723 |
907 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768819530 CA1459086 |
909 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA39434216 rs867580358 |
910 | T>I | No |
ClinGen Ensembl |
|
|
rs867580358 CA345285520 |
910 | T>S | No |
ClinGen Ensembl |
|
|
CA345285526 rs1405618681 |
911 | G>E | No |
ClinGen TOPMed |
|
|
CA1459087 rs776795405 |
912 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1572260816 CA345285532 |
912 | A>T | No |
ClinGen Ensembl |
|
|
rs1387119257 CA345285546 |
913 | S>F | No |
ClinGen TOPMed |
|
|
rs1471127417 CA345285541 |
913 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 915 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39434223 rs200883983 |
915 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1473627 CA345285559 rs1289225342 |
916 | P>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1204696473 CA345285582 |
919 | P>L | No |
ClinGen gnomAD |
|
|
CA345285594 rs1234995001 |
921 | P>L | No |
ClinGen gnomAD |
|
|
CA1459089 rs770340011 |
924 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA345285609 rs1178421258 |
924 | H>Y | No |
ClinGen TOPMed |
|
|
CA345285669 rs763281698 |
930 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs763281698 CA1459091 COSM174856 |
930 | E>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA39434252 rs370711052 |
932 | S>L | No |
ClinGen ESP TOPMed |
|
|
CA345285702 rs1204081189 |
933 | P>S | No |
ClinGen TOPMed |
|
|
CA1459094 rs752304620 |
935 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258705616 CA345285741 |
936 | H>P | No |
ClinGen TOPMed |
|
|
CA1459096 rs143242397 |
937 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345285757 rs1409269663 |
938 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345285756 rs1409269663 |
938 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753389176 CA1459097 |
938 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 939 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375381466 CA39434300 |
941 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1459098 rs756780344 |
941 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750380229 CA1459100 |
942 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345285803 rs1315939698 |
943 | P>S | No |
ClinGen TOPMed |
|
|
rs1454457951 CA345285815 |
944 | Q>R | No |
ClinGen gnomAD |
|
|
CA1459101 rs140523160 |
945 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1459103 rs747180331 COSM1689979 |
945 | R>H | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs140523160 CA1459102 |
945 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1459104 rs368238092 COSM1239248 |
946 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1459105 rs201076217 |
946 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345285834 rs201076217 |
946 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1306187590 CA345285839 |
947 | P>A | No |
ClinGen gnomAD |
|
|
rs1463052117 CA345285852 |
948 | A>D | No |
ClinGen gnomAD |
|
|
CA1459107 rs769813222 |
948 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1459108 COSM905700 rs202015232 |
953 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs138700859 CA1459109 |
953 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372556248 CA1459110 |
955 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1459111 rs200413184 |
957 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1408063247 CA345285952 |
959 | A>T | No |
ClinGen gnomAD |
|
|
CA1459112 rs377225215 |
959 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1470934439 CA345285971 |
960 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345285983 rs1334553353 |
961 | P>L | No |
ClinGen gnomAD |
|
|
CA1459114 rs149445678 |
966 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761367644 CA1459115 |
967 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750348462 CA345286057 |
968 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1459117 rs750348462 |
968 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764698216 CA1459116 |
968 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1459118 rs758435545 COSM1340213 |
970 | Q>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA345286071 rs758435545 |
970 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA345286089 rs1278495759 |
971 | T>I | No |
ClinGen gnomAD |
|
|
rs766221341 CA1459119 |
972 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751407474 CA1459120 |
973 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201308341 CA1459121 |
974 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781452929 CA1459122 |
976 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56065162 CA1459123 VAR_040737 |
977 | R>C | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756177215 CA1459124 |
977 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345286144 rs756177215 |
977 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777736293 CA1459125 |
978 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749734556 CA1459126 |
979 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs34794284 VAR_040738 CA1459128 |
982 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345286187 rs1319722432 |
982 | P>S | No |
ClinGen gnomAD |
|
|
rs1426232569 CA345286203 |
983 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 984 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345286209 rs1347823723 |
984 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA39434501 rs898680297 |
984 | Q>P | No |
ClinGen TOPMed |
|
|
rs761407122 CA1459132 |
987 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345286272 rs1197239487 |
990 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 991 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39434543 rs866193751 |
994 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 995 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145569871 CA1459134 |
997 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345286381 rs1558466102 |
1000 | L>M | No |
ClinGen Ensembl |
|
|
CA1459135 rs147734515 |
1000 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223568787 CA345286415 |
1003 | D>A | No |
ClinGen gnomAD |
|
|
CA1459138 rs369257067 |
1004 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369257067 CA1459137 |
1004 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767244768 CA1459139 |
1005 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345286475 rs1376789884 |
1008 | S>N | No |
ClinGen gnomAD |
|
|
rs756302635 CA1459141 |
1011 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1459143 rs749362387 |
1014 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs917902539 CA39434632 |
1015 | L>P | No |
ClinGen Ensembl |
|
|
rs1367040741 CA345286557 |
1016 | C>R | No |
ClinGen gnomAD |
|
|
CA1459144 rs757383271 |
1016 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA39434638 rs948019846 |
1017 | R>G | No |
ClinGen gnomAD |
|
|
rs1336690329 CA345286615 |
1021 | K>E | No |
ClinGen gnomAD |
|
|
CA345286628 rs1445019689 |
1022 | T>P | No |
ClinGen gnomAD |
|
|
rs1278272257 CA345286637 |
1023 | S>R | No |
ClinGen gnomAD |
|
|
rs149770969 CA1459147 |
1024 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372766457 CA1459145 |
1024 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3735080 CA39434647 rs1033231980 |
1026 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1033231980 CA345286672 |
1026 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1459148 rs775744374 COSM3400470 |
1027 | I>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747781297 CA1459149 |
1028 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996116291 CA39434671 |
1029 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs767156199 CA39434653 |
1029 | E>Q | No |
ClinGen Ensembl |
|
|
rs1183947501 CA345286714 |
1030 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA345286727 rs369496903 |
1031 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA1459151 rs773066367 |
1031 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1236279646 CA345286718 |
1031 | E>Q | No |
ClinGen gnomAD |
|
|
CA345286739 rs1386493750 |
1032 | K>N | No |
ClinGen gnomAD |
|
|
CA1459153 rs766026191 |
1033 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345286748 rs1249867229 |
1033 | E>G | No |
ClinGen TOPMed |
|
|
rs774389316 CA1459154 |
1034 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA345286777 rs1411971454 |
1036 | S>P | No |
ClinGen gnomAD |
No associated diseases with Q5TCX8
5 regional properties for Q5TCX8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 124 - 401 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 124 - 398 | IPR001245 |
| domain | SH3 domain | 38 - 102 | IPR001452 |
| active_site | Serine/threonine-protein kinase, active site | 259 - 271 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 130 - 151 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.25 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| JUN kinase kinase kinase activity | Catalysis of the reaction: JNKK + ATP = JNKK phosphate + ADP. This reaction is the phosphorylation and activation of JUN kinase kinases (JNKKs). |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
38 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2VDU3 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Bos taurus (Bovine) | SS |
| Q4TVR5 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Bos taurus (Bovine) | PR |
| Q3SZJ2 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Bos taurus (Bovine) | PR |
| Q6XUX0 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Gallus gallus (Chicken) | PR |
| P83104 | Takl1 | Putative mitogen-activated protein kinase kinase kinase 7-like | Drosophila melanogaster (Fruit fly) | PR |
| Q95UN8 | slpr | Mitogen-activated protein kinase kinase kinase | Drosophila melanogaster (Fruit fly) | EV |
| O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
| Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
| Q6XUX3 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Homo sapiens (Human) | PR |
| O43318 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Homo sapiens (Human) | SS |
| Q9NYL2 | MAP3K20 | Mitogen-activated protein kinase kinase kinase 20 | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
| Q96J92 | WNK4 | Serine/threonine-protein kinase WNK4 | Homo sapiens (Human) | SS |
| P00540 | MOS | Proto-oncogene serine/threonine-protein kinase mos | Homo sapiens (Human) | PR |
| Q80XI6 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Mus musculus (Mouse) | PR |
| P58801 | Ripk2 | Receptor-interacting serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| Q62073 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Mus musculus (Mouse) | EV |
| Q3U1V8 | Map3k9 | Mitogen-activated protein kinase kinase kinase 9 | Mus musculus (Mouse) | SS |
| Q9D2Y4 | Mlkl | Mixed lineage kinase domain-like protein | Mus musculus (Mouse) | SS |
| Q9ESL4 | Map3k20 | Mitogen-activated protein kinase kinase kinase 20 | Mus musculus (Mouse) | PR |
| P00536 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Mus musculus (Mouse) | PR |
| Q66L42 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Mus musculus (Mouse) | SS |
| Q8VDG6 | Map3k21 | Mitogen-activated protein kinase kinase kinase 21 | Mus musculus (Mouse) | PR |
| P0C8E4 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Rattus norvegicus (Rat) | SS |
| Q66HA1 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Rattus norvegicus (Rat) | PR |
| D3ZG83 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Rattus norvegicus (Rat) | SS |
| P00539 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q67E00 | dstyk | Dual serine/threonine and tyrosine protein kinase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALRGAAGAT | DTPVSSAGGA | PGGSASSSST | SSGGSASAGA | GLWAALYDYE | ARGEDELSLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGQLVEVLSQ | DAAVSGDEGW | WAGQVQRRLG | IFPANYVAPC | RPAASPAPPP | SRPSSPVHVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FERLELKELI | GAGGFGQVYR | ATWQGQEVAV | KAARQDPEQD | AAAAAESVRR | EARLFAMLRH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PNIIELRGVC | LQQPHLCLVL | EFARGGALNR | ALAAANAAPD | PRAPGPRRAR | RIPPHVLVNW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVQIARGMLY | LHEEAFVPIL | HRDLKSSNIL | LLEKIEHDDI | CNKTLKITDF | GLAREWHRTT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KMSTAGTYAW | MAPEVIKSSL | FSKGSDIWSY | GVLLWELLTG | EVPYRGIDGL | AVAYGVAVNK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LTLPIPSTCP | EPFAKLMKEC | WQQDPHIRPS | FALILEQLTA | IEGAVMTEMP | QESFHSMQDD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WKLEIQQMFD | ELRTKEKELR | SREEELTRAA | LQQKSQEELL | KRREQQLAER | EIDVLERELN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILIFQLNQEK | PKVKKRKGKF | KRSRLKLKDG | HRISLPSDFQ | HKITVQASPN | LDKRRSLNSS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSSPPSSPTM | MPRLRAIQLT | SDESNKTWGR | NTVFRQEEFE | DVKRNFKKKG | CTWGPNSIQM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KDRTDCKERI | RPLSDGNSPW | STILIKNQKT | MPLASLFVDQ | PGSCEEPKLS | PDGLEHRKPK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QIKLPSQAYI | DLPLGKDAQR | ENPAEAESWE | EAASANAATV | SIEMTPTNSL | SRSPQRKKTE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SALYGCTVLL | ASVALGLDLR | ELHKAQAAEE | PLPKEEKKKR | EGIFQRASKS | RRSASPPTSL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PSTCGEASSP | PSLPLSSALG | ILSTPSFSTK | CLLQMDSEDP | LVDSAPVTCD | SEMLTPDFCP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TAPGSGREPA | LMPRLDTDCS | VSRNLPSSFL | QQTCGNVPYC | ASSKHRPSHH | RRTMSDGNPT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PTGATIISAT | GASALPLCPS | PAPHSHLPRE | VSPKKHSTVH | IVPQRRPASL | RSRSDLPQAY |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PQTAVSQLAQ | TACVVGRPGP | HPTQFLAAKE | RTKSHVPSLL | DADVEGQSRD | YTVPLCRMRS |
| 1030 | |||||
| KTSRPSIYEL | EKEFLS |