Q92953
PR
Gene name |
KCNB2 |
Protein name |
Potassium voltage-gated channel subfamily B member 2 |
Names |
Voltage-gated potassium channel subunit Kv2.2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9312 |
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
1 structures for Q92953
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92953-F1 | Predicted | AlphaFoldDB |
635 variants for Q92953
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1339858416 CA371537634 |
5 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373744483 CA4781401 |
6 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585756006 CA371537641 |
6 | P>S | No |
ClinGen Ensembl |
|
|
CA4781402 rs775128513 |
7 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371537649 rs1198813678 |
8 | G>S | No |
ClinGen gnomAD |
|
|
CA4781404 rs375433681 |
15 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs761692216 CA4781406 |
16 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4781407 COSM1553242 rs765031655 |
16 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs375896990 CA179595973 |
17 | T>I | No |
ClinGen gnomAD |
|
|
rs1379144064 CA371537709 |
17 | T>S | No |
ClinGen gnomAD |
|
|
rs781259006 CA4781410 |
18 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1170327775 CA371537725 |
20 | L>F | No |
ClinGen gnomAD |
|
|
rs752870362 CA4781411 |
20 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371537730 rs1443059636 |
21 | P>L | No |
ClinGen TOPMed |
|
|
CA4781412 rs756118503 |
21 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756118503 CA371537728 |
21 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781413 rs777871709 |
22 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA179595975 rs267601987 |
22 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777871709 CA179595974 |
22 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4781414 rs528008261 |
24 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775774979 CA4781415 |
27 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4781416 rs779425555 |
28 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371537771 rs1309489932 |
28 | I>T | No |
ClinGen gnomAD |
|
|
COSM1101531 CA4781419 rs561571977 |
29 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM227537 CA4781418 rs547685470 |
29 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs760269967 CA4781420 |
30 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768079183 CA4781421 |
33 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776064533 CA4781422 |
36 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1490614003 CA371537826 |
37 | V>F | No |
ClinGen TOPMed |
|
|
rs1427946504 CA371537866 |
43 | G>S | No |
ClinGen gnomAD |
|
| rs1429950678 | 44 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940120138 CA179595978 |
45 | N>K | No |
ClinGen gnomAD |
|
|
rs750280381 CA4781425 |
45 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452697182 CA371537884 |
46 | H>N | No |
ClinGen gnomAD |
|
|
CA4781427 rs767822285 |
47 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA179595979 rs866484467 |
47 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA371537903 rs1385286382 |
48 | V>A | No |
ClinGen gnomAD |
|
|
rs752896189 CA4781428 |
51 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1225497498 CA371537929 |
52 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs539038678 CA4781430 |
54 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1239167124 CA371537943 |
55 | R>G | No |
ClinGen TOPMed |
|
|
rs779546239 CA4781433 |
57 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746658273 CA4781437 |
60 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4781439 rs776194359 |
62 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1585756227 CA371537987 |
63 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 64 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747647219 CA4781440 |
65 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 68 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371538041 rs372787931 |
70 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769772986 CA4781441 |
70 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371538042 rs1159161740 |
71 | E>K | No |
ClinGen TOPMed |
|
|
rs1406779226 CA371538054 |
72 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371538060 rs1362201207 |
73 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766110762 CA4781444 |
80 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371538119 rs1224792403 |
81 | N>K | No |
ClinGen gnomAD |
|
|
CA179595981 rs368956189 |
81 | N>Y | No |
ClinGen ESP |
|
|
rs143538924 CA4781446 |
83 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4781447 rs764407343 |
83 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4781449 rs373152926 |
85 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371538153 rs1205139943 |
86 | E>D | No |
ClinGen TOPMed |
|
|
COSM1255252 rs1563525443 CA371538149 |
86 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1055124737 CA179595982 |
93 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 96 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747398077 CA4781454 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371538275 rs1346102344 COSM751841 |
104 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs747695999 CA4781457 |
106 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866863463 CA179595983 |
109 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA371538314 rs1319223437 |
110 | M>T | No |
ClinGen TOPMed |
|
|
rs769325047 CA4781458 |
110 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA179595984 rs902655800 |
111 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781459 rs772662008 |
114 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs749198904 CA4781460 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1300358022 CA371538365 |
117 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs371078506 CA4781461 |
118 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4781468 rs765427112 |
120 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4781467 rs762084075 |
120 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA371538391 rs1306405429 |
121 | Q>R | No |
ClinGen gnomAD |
|
|
CA371538421 rs1429228679 |
125 | Y>C | No |
ClinGen TOPMed |
|
|
rs536816083 CA179595985 |
127 | G>E | No |
ClinGen 1000Genomes |
|
|
CA179595986 rs970904096 |
130 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868765312 CA179595987 |
140 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766441017 CA179595988 COSM751839 |
143 | Q>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA371538564 rs1166353491 |
145 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| rs752059864 | 146 | E>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980426926 CA179595989 |
147 | Q>R | No |
ClinGen TOPMed |
|
|
rs375213947 CA4781473 |
148 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371538592 rs1410537167 |
148 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179595990 rs1033774125 |
149 | N>S | No |
ClinGen TOPMed |
|
|
rs781498168 CA371538608 |
150 | E>D | No |
ClinGen ExAC |
|
|
rs866597271 CA179595991 |
150 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371538637 rs1385429679 |
155 | E>G | No |
ClinGen gnomAD |
|
|
rs755707766 CA4781478 |
157 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1563525577 COSM1553239 CA371538667 |
159 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1324941688 CA371538663 |
159 | M>K | No |
ClinGen TOPMed |
|
|
rs1011695353 CA179595992 |
159 | M>V | No |
ClinGen Ensembl |
|
|
CA371538669 COSM195926 rs748825911 |
160 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4781480 rs748825911 |
160 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214609193 CA371538677 |
161 | E>V | No |
ClinGen gnomAD |
|
| rs1320848071 | 163 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778886849 CA4781484 |
173 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778886849 CA4781483 |
173 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772020652 CA4781485 |
175 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1467698770 CA371538797 |
178 | K>E | No |
ClinGen TOPMed |
|
|
rs1469416583 CA371538823 |
181 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 190 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585756528 CA371538897 |
192 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 195 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585987230 CA371474286 |
196 | A>P | No |
ClinGen Ensembl |
|
|
rs971570323 CA179274549 COSM1101534 |
198 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 216 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771065845 CA4781510 COSM3663879 |
221 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771065845 CA4781511 |
221 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271118649 CA371474967 |
227 | L>F | No |
ClinGen gnomAD |
|
|
rs1436214825 CA371474999 |
228 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs80234000 CA371475049 |
230 | N>S | No |
ClinGen gnomAD |
|
|
CA179274632 rs80234000 |
230 | N>T | No |
ClinGen gnomAD |
|
|
rs367953569 CA4781514 |
231 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367953569 CA371475065 |
231 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1400578397 CA371475072 COSM454826 |
231 | R>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1400578397 CA371475078 |
231 | R>L | No |
ClinGen TOPMed |
|
|
rs753554592 CA4781517 |
233 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1382951412 CA371475180 |
234 | A>V | No |
ClinGen gnomAD |
|
|
CA371475195 rs1423580115 |
235 | H>Y | No |
ClinGen gnomAD |
|
|
CA371475296 rs1389237739 |
239 | V>M | No |
ClinGen gnomAD |
|
|
CA371475552 rs1328034791 |
249 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1359414670 CA371475607 |
251 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371475675 rs1175204905 |
254 | S>P | No |
ClinGen TOPMed |
|
|
rs780121563 CA4781522 |
257 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1246953305 CA371475740 |
258 | K>N | No |
ClinGen gnomAD |
|
|
CA179274682 rs868845914 |
259 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4781523 rs746844818 |
260 | K>E | No |
ClinGen ExAC |
|
|
rs1267512681 CA371475768 |
260 | K>R | No |
ClinGen gnomAD |
|
|
rs1193754002 CA371475923 |
274 | I>V | No |
ClinGen TOPMed |
|
|
CA4781527 rs770993770 |
277 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4781528 rs774483745 |
279 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745932902 CA4781529 |
281 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781531 rs142185006 |
287 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4781532 rs151189961 |
288 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1453113406 CA371476022 |
289 | S>G | No |
ClinGen gnomAD |
|
|
rs1255647912 CA371476031 COSM1132697 |
290 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4781537 rs750005116 COSM454827 |
296 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs200347487 COSM1101537 CA4781539 |
304 | R>* | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA179274774 COSM1101538 rs867030236 |
307 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs781044890 CA179274775 |
307 | R>H | No |
ClinGen Ensembl |
|
|
rs1257787155 CA371476170 |
311 | I>V | No |
ClinGen gnomAD |
|
|
CA4781542 rs781046739 COSM41139 |
315 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 317 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402010792 CA371476292 |
330 | R>Q | No |
ClinGen TOPMed |
|
|
CA179274833 rs889047839 |
331 | S>N | No |
ClinGen TOPMed |
|
|
rs1381831558 CA371476330 |
335 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 337 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 341 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221779474 CA371476382 |
343 | A>S | No |
ClinGen gnomAD |
|
|
rs1242962962 CA371476393 |
344 | M>I | No |
ClinGen TOPMed |
|
|
rs775495988 CA4781548 |
344 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA179274836 rs866021162 |
347 | M>I | No |
ClinGen Ensembl |
|
|
rs1324923226 CA371476421 |
348 | I>M | No |
ClinGen gnomAD |
|
|
rs1259313839 CA371476454 |
353 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 355 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 362 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 363 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459304544 CA371476654 |
370 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376552017 CA4781551 |
398 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4781553 rs769611178 |
403 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781554 rs773031498 |
406 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289608390 CA371477080 |
410 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371477159 rs1322256733 |
422 | E>Q | No |
ClinGen TOPMed |
|
|
CA371477201 rs1346287605 |
427 | Q>R | No |
ClinGen gnomAD |
|
|
CA4781561 rs755831297 |
433 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs942328237 CA179274967 |
434 | I>V | No |
ClinGen gnomAD |
|
|
CA371477256 rs1463589585 |
435 | K>* | No |
ClinGen gnomAD |
|
|
rs1489077946 CA371477275 |
437 | R>S | No |
ClinGen gnomAD |
|
|
COSM106668 rs146080562 CA179274997 |
440 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs146080562 CA179274983 |
440 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4781564 rs758557585 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2151912 rs750665772 CA4781563 |
442 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs867555998 CA179275017 |
443 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs938687681 CA179275018 |
444 | K>R | No |
ClinGen TOPMed |
|
|
CA371477320 rs1458926209 |
445 | R>K | No |
ClinGen TOPMed |
|
|
CA4781567 rs141965461 |
446 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA179275025 rs868237536 |
448 | S>G | No |
ClinGen Ensembl |
|
|
VAR_035774 rs770305852 COSM33154 CA4781570 |
450 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA371477364 rs770305852 |
450 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422954859 CA371477380 |
451 | S>C | No |
ClinGen gnomAD |
|
|
rs773657738 CA4781571 |
451 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs770706568 CA4781573 |
457 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA371477505 rs1296882729 |
459 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA371477502 rs1296882729 |
459 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4781574 rs773971617 |
460 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758944083 CA179275100 |
460 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758944083 CA4781575 |
460 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1311885058 CA371477528 |
461 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1585987808 CA371477546 |
462 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 462 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371477555 rs767528104 |
463 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767528104 CA4781576 |
463 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1243312348 CA371477579 |
464 | L>P | No |
ClinGen gnomAD |
|
|
CA4781577 rs752604010 |
465 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371477600 rs1210499609 |
466 | D>N | No |
ClinGen TOPMed |
|
|
CA371477624 rs1321735487 |
468 | A>T | No |
ClinGen gnomAD |
|
|
rs1223133474 CA371477631 |
468 | A>V | No |
ClinGen gnomAD |
|
|
rs201676119 CA4781578 |
469 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA371477636 rs1219120720 |
469 | V>I | No |
ClinGen gnomAD |
|
|
CA371477649 rs1490497911 |
470 | E>Q | No |
ClinGen TOPMed |
|
|
CA179275119 rs1009795481 |
471 | K>N | No |
ClinGen Ensembl |
|
|
rs200516745 CA4781579 |
472 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371477691 COSM1472096 rs1239743237 |
473 | G>R | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM107641 rs140088625 CA179275137 |
474 | E>K | kidney Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1585987869 CA371477721 |
475 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 475 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183214864 CA371477736 |
476 | A>G | No |
ClinGen gnomAD |
|
|
CA371477733 rs753562453 |
476 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4781580 rs753562453 |
476 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780239761 CA4781582 |
478 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781583 rs780239761 |
478 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 479 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585987902 CA371477768 |
480 | D>A | No |
ClinGen Ensembl |
|
|
rs755044686 CA4781584 |
480 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 480 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371477774 rs1585987910 |
481 | S>P | No |
ClinGen Ensembl |
|
|
CA4781587 rs770363006 |
482 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749659716 CA4781589 |
483 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs985476287 CA179275232 |
483 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379483552 CA371477816 |
484 | D>G | No |
ClinGen gnomAD |
|
|
rs1195297603 CA371477825 |
485 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs773842000 CA4781591 |
486 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1585987959 CA371477840 |
486 | H>P | No |
ClinGen Ensembl |
|
|
rs573985921 CA4781594 |
487 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs573985921 CA4781593 |
487 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145767327 CA4781592 |
487 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1553231 rs764013780 CA4781596 |
488 | S>L | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
TCGA novel CA371477874 rs1585987978 |
489 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA4781598 rs761567231 |
491 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM218962 rs1422039688 CA371477899 |
491 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs751753071 CA4781600 |
492 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 494 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369194598 CA4781601 |
495 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371477969 rs1418885389 |
496 | R>G | No |
ClinGen gnomAD |
|
|
CA371477973 rs964338460 |
496 | R>K | No |
ClinGen gnomAD |
|
|
rs964338460 CA179275302 |
496 | R>T | No |
ClinGen gnomAD |
|
|
rs1468853200 CA371478002 |
498 | A>S | No |
ClinGen TOPMed |
|
|
rs1173383102 CA371478010 |
498 | A>V | No |
ClinGen gnomAD |
|
|
CA371478053 rs1268119522 |
502 | T>A | No |
ClinGen TOPMed |
|
|
CA371478070 rs1469575222 |
504 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 505 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220223702 CA371478075 |
505 | N>S | No |
ClinGen TOPMed |
|
|
CA371478092 rs1489210299 |
507 | S>F | No |
ClinGen TOPMed |
|
|
CA4781604 COSM1458149 rs756745272 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA179275316 rs997196172 |
510 | N>S | No |
ClinGen gnomAD |
|
|
rs1585988062 CA371478116 |
511 | K>E | No |
ClinGen Ensembl |
|
|
CA179275326 rs1030061101 |
516 | S>G | No |
ClinGen Ensembl |
|
|
rs950522472 CA179275329 |
516 | S>R | No |
ClinGen Ensembl |
|
|
rs749706788 CA4781606 |
518 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA371478915 rs1585988082 |
519 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 519 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149424569 CA4781607 |
519 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348114912 CA371478923 |
520 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781608 rs779284283 |
521 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371478937 rs1203007221 |
522 | E>G | No |
ClinGen gnomAD |
|
|
rs745516217 CA4781609 |
522 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774928648 CA4781611 |
523 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213905712 CA371478947 |
524 | L>M | No |
ClinGen gnomAD |
|
|
rs1213905712 CA371478948 |
524 | L>V | No |
ClinGen gnomAD |
|
|
CA371478956 rs1241752417 |
525 | N>S | No |
ClinGen gnomAD |
|
|
rs1427766547 CA371478983 |
527 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs373435847 CA4781613 |
527 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1427766547 CA371478981 |
527 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371478987 rs377338435 |
528 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4781614 rs377338435 |
528 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370109644 CA4781615 |
530 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA179275408 rs963965453 |
530 | S>T | No |
ClinGen Ensembl |
|
|
CA371479039 rs764955920 |
532 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781616 rs764955920 |
532 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359507871 CA371479060 |
534 | H>Y | No |
ClinGen gnomAD |
|
|
CA179275439 rs933108759 |
542 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1427332352 CA371479187 |
543 | L>I | No |
ClinGen TOPMed |
|
|
rs1346780958 CA371479218 |
545 | N>S | No |
ClinGen gnomAD |
|
|
rs200324895 CA371479257 |
547 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371479272 rs1585988231 |
548 | T>I | No |
ClinGen Ensembl |
|
|
CA371479269 rs1166790614 |
548 | T>S | No |
ClinGen gnomAD |
|
|
CA371479301 rs1242573810 |
550 | T>R | No |
ClinGen TOPMed |
|
|
CA4781623 rs754416306 |
551 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371479364 rs1490223244 |
555 | H>Y | No |
ClinGen gnomAD |
|
|
CA4781625 rs144823279 |
556 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4781626 rs750795115 |
557 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA371479414 rs1468868984 |
558 | P>R | No |
ClinGen gnomAD |
|
|
CA371479424 rs1158371596 |
559 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781627 TCGA novel rs758042900 |
560 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs1203952812 CA371479528 |
563 | K>M | No |
ClinGen TOPMed |
|
|
CA4781628 rs779733202 |
563 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1322397080 CA371479543 |
564 | P>T | No |
ClinGen TOPMed |
|
|
COSM454828 rs1160149602 CA371479564 |
565 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA371479566 rs1160149602 |
565 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768177813 CA4781630 |
567 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1219876769 CA371479656 |
569 | A>V | No |
ClinGen TOPMed |
|
|
CA4781632 rs748082610 |
570 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs769770020 CA4781635 |
572 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1308220771 CA371479751 |
573 | E>G | No |
ClinGen gnomAD |
|
|
rs1270088782 CA371479732 |
573 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 577 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373322976 CA179275528 |
580 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA4781637 rs762789729 |
581 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs762789729 CA371479884 |
581 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4781638 rs148143740 |
581 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371479912 rs1355646265 |
583 | Q>E | No |
ClinGen gnomAD |
|
|
CA371479920 rs1292582359 |
583 | Q>H | No |
ClinGen gnomAD |
|
|
rs1210521001 CA371479916 |
583 | Q>R | No |
ClinGen gnomAD |
|
|
rs992807242 CA179275535 |
584 | E>K | No |
ClinGen Ensembl |
|
|
CA371479961 rs1436551474 |
586 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA371479964 rs1436551474 |
586 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1054146033 CA179275568 |
587 | A>T | No |
ClinGen TOPMed |
|
|
CA4781641 rs764278807 |
588 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1163367178 CA371480063 |
592 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4781645 rs750799802 |
593 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA371480096 rs750799802 |
593 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1299878862 CA371480086 |
593 | V>F | No |
ClinGen gnomAD |
|
|
rs575721225 CA4781647 |
594 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4781646 rs758757745 |
594 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371480166 rs1313113025 |
596 | D>E | No |
ClinGen gnomAD |
|
|
rs1042610721 CA371480176 |
597 | M>L | No |
ClinGen gnomAD |
|
|
rs1042610721 CA179275613 |
597 | M>V | No |
ClinGen gnomAD |
|
|
CA371480197 rs1239056499 |
598 | K>Q | No |
ClinGen TOPMed |
|
|
rs1585988450 CA371480250 |
600 | T>P | No |
ClinGen Ensembl |
|
|
CA371480375 rs1563431048 |
607 | T>A | No |
ClinGen Ensembl |
|
|
CA4781650 rs370883521 |
607 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371480421 rs1253597356 |
610 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4781654 rs140075333 |
612 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 613 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213365567 CA371480464 |
613 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 614 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179275641 rs758642951 |
616 | T>I | No |
ClinGen gnomAD |
|
|
rs1030033305 CA179275647 |
617 | E>D | No |
ClinGen Ensembl |
|
|
CA4781655 rs770779444 |
618 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4781656 rs774227848 |
619 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4781657 COSM170441 rs760978646 |
620 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760978646 CA371480563 |
620 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768991339 CA4781658 |
621 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1324694974 CA371480573 |
622 | P>L | No |
ClinGen gnomAD |
|
|
CA371480569 rs1315189455 |
622 | P>S | No |
ClinGen gnomAD |
|
|
CA179275704 rs370327292 |
623 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs370327292 CA4781660 |
623 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371480581 rs1443048474 |
624 | P>S | No |
ClinGen TOPMed |
|
|
CA371480589 rs1354053261 |
625 | S>C | No |
ClinGen TOPMed |
|
|
CA4781663 rs139648032 COSM1458152 |
626 | A>T | Variant assessed as Somatic; 4.65e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4781664 rs528752259 |
628 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751917729 CA4781665 |
633 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1473505669 CA371480656 |
635 | T>A | No |
ClinGen gnomAD |
|
|
rs546937702 CA4781666 |
635 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373737384 CA371480660 |
636 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373737384 CA371480659 |
636 | D>N | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373737384 CA4781668 |
636 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755683921 CA4781669 |
637 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777095320 CA4781670 |
638 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA179275771 rs777095320 |
638 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781672 rs532976106 |
640 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1480735255 CA371480686 |
641 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA179275787 rs926040448 |
643 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 643 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769048516 CA371480714 |
644 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs745644159 CA4781674 |
644 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1298852973 CA371480712 |
644 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA371480713 rs1298852973 |
644 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA179275798 rs199723904 |
646 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199723904 CA4781676 |
646 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4781678 rs748277148 |
647 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 647 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769931537 CA371480736 |
648 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781679 rs769931537 |
648 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769931537 CA4781680 |
648 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263263355 CA371480741 |
649 | P>L | No |
ClinGen gnomAD |
|
|
rs759866832 CA4781684 |
649 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4781685 rs767830715 |
650 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767830715 CA4781686 |
650 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763662008 CA4781688 |
655 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753278655 CA4781689 COSM1722114 |
656 | R>K | Variant assessed as Somatic; 0.0 impact. NS breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371480825 rs1419305758 |
657 | E>D | No |
ClinGen gnomAD |
|
|
CA4781690 RCV000967093 rs16938507 VAR_034050 |
657 | E>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA179275908 rs867236998 |
659 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778971065 CA4781691 |
662 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs745697327 CA4781692 |
662 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758297898 CA371480880 |
666 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs758297898 CA4781693 |
666 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371480906 rs1293395628 |
670 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4781694 rs779658119 |
671 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 671 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779658119 CA371480910 |
671 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371480915 rs1305264880 |
672 | V>F | No |
ClinGen gnomAD |
|
|
CA371480914 rs1305264880 |
672 | V>L | No |
ClinGen gnomAD |
|
|
CA4781696 rs769903464 |
674 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781697 rs769903464 |
674 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749309476 CA371480963 |
677 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781700 rs774872332 COSM1458153 |
679 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 682 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371481026 rs1204121504 |
682 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 684 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767879064 CA371481056 |
684 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs767879064 CA4781702 |
684 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192901474 CA371481066 |
685 | C>R | No |
ClinGen gnomAD |
|
|
rs775648356 CA4781703 |
685 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763636896 CA371481098 |
687 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs763636896 CA4781705 |
687 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753436324 CA371481106 |
688 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs148879809 CA371481108 |
688 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4781707 rs148879809 COSM328234 |
688 | H>R | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753436324 CA4781706 |
688 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142592831 CA4781708 |
689 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 690 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330003119 CA371481148 |
691 | L>S | No |
ClinGen gnomAD |
|
|
rs1490001962 CA371481193 |
694 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs986243073 CA179275996 |
694 | D>N | No |
ClinGen TOPMed |
|
|
rs1288675019 CA371481214 |
695 | N>K | No |
ClinGen TOPMed |
|
|
CA4781709 rs750407484 |
696 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758345213 CA4781711 |
697 | T>A | No |
ClinGen ExAC |
|
|
rs1563431342 CA371481234 |
698 | D>G | No |
ClinGen Ensembl |
|
|
CA4781713 rs751298935 |
698 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371481248 rs1226298553 |
700 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371481273 rs1311362091 |
703 | S>F | No |
ClinGen gnomAD |
|
|
CA371481270 rs1282696630 |
703 | S>P | No |
ClinGen TOPMed |
|
|
rs1223668050 CA371481298 |
706 | G>R | No |
ClinGen gnomAD |
|
|
rs1256083803 CA371481316 |
707 | S>N | No |
ClinGen gnomAD |
|
|
CA371481333 rs1404325980 |
708 | N>S | No |
ClinGen TOPMed |
|
|
rs936539346 CA179276007 |
709 | P>T | No |
ClinGen TOPMed |
|
|
CA371481387 COSM123848 rs777830500 |
712 | S>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4781715 COSM751836 rs777830500 |
712 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749476946 CA4781716 |
713 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749476946 CA179276027 |
713 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534911339 CA4781717 |
714 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414604179 CA371481407 |
714 | S>T | No |
ClinGen gnomAD |
|
|
rs534911339 CA371481416 |
714 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423573811 CA371481442 |
716 | K>N | No |
ClinGen gnomAD |
|
|
rs778910036 CA4781718 |
721 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4781721 rs199530102 |
724 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4781720 rs199530102 |
724 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA179276048 rs993001589 |
725 | S>G | No |
ClinGen Ensembl |
|
|
COSM3699238 CA4781722 rs760922089 |
726 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 727 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585989055 CA371481634 |
729 | T>P | No |
ClinGen Ensembl |
|
|
CA4781725 rs761507348 |
729 | T>S | No |
ClinGen ExAC |
|
|
COSM3765412 CA4781726 rs764851272 |
730 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs539044887 CA371481660 |
731 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4781727 rs539044887 COSM1635861 |
731 | P>R | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA371481674 rs1229551588 |
732 | S>I | No |
ClinGen gnomAD |
|
|
CA179276086 rs770751254 |
733 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 733 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317250776 CA371481695 |
734 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 742 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781731 rs557129070 |
745 | S>L | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754075700 CA4781733 |
748 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371481973 rs754075700 |
748 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371481987 rs143326877 |
749 | P>A | No |
ClinGen gnomAD |
|
|
CA371481993 rs1423501300 |
749 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 749 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM109101 CA179276144 rs143326877 |
749 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1174845257 CA371482020 |
750 | Q>H | No |
ClinGen gnomAD |
|
|
CA4781737 rs772680319 |
752 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781739 rs747507945 |
757 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4781740 rs768925064 COSM3951864 |
759 | E>K | lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA371482142 rs1175096133 |
760 | T>A | No |
ClinGen TOPMed |
|
|
CA371482149 rs777077261 |
760 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777077261 CA4781741 |
760 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs921803735 CA179276193 |
761 | P>L | No |
ClinGen Ensembl |
|
|
CA371482172 rs1218454691 |
762 | S>C | No |
ClinGen gnomAD |
|
|
rs772900198 CA4781744 |
762 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA179276241 COSM606145 rs866260081 |
763 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs762340783 CA4781745 |
763 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1214783430 CA371482202 |
764 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1214783430 CA371482206 |
764 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765875293 CA4781746 |
765 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765875293 CA371482209 |
765 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774181145 CA4781747 |
767 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371482241 rs1196389232 |
767 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1251941770 CA371482282 |
770 | G>R | No |
ClinGen TOPMed |
|
|
rs954727091 CA179276273 |
772 | E>V | No |
ClinGen TOPMed |
|
|
rs933146090 CA371482317 |
773 | V>I | No |
ClinGen gnomAD |
|
|
rs933146090 CA179276274 |
773 | V>L | No |
ClinGen gnomAD |
|
|
CA4781749 rs767224204 |
775 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA179276277 COSM1101544 rs986211750 |
775 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA371482352 rs1359342304 |
776 | P>A | No |
ClinGen gnomAD |
|
|
rs752480489 CA4781750 |
776 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371482362 rs1320153769 |
777 | C>G | No |
ClinGen gnomAD |
|
|
CA179276292 rs936489523 |
777 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 778 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179276293 rs989738041 |
778 | Q>R | No |
ClinGen TOPMed |
|
|
rs1329307506 CA371482394 |
779 | G>R | No |
ClinGen gnomAD |
|
|
rs765419963 CA4781752 |
781 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1372987295 CA371482427 |
782 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 783 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179276320 rs369082497 |
784 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4781754 rs750539336 |
785 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371482467 rs750539336 |
785 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371482477 rs1398066070 |
786 | P>A | No |
ClinGen TOPMed |
|
|
CA371482485 rs1451506365 |
787 | R>G | No |
ClinGen gnomAD |
|
|
CA371482488 rs1200253984 |
787 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1200253984 CA371482492 |
787 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA371482533 rs1248802400 |
790 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781756 rs780130980 |
792 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371783455 CA371482565 |
792 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 793 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781757 rs138679918 |
793 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1379329189 TCGA novel COSM1101545 CA371482597 |
794 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA ClinGen cosmic curated gnomAD |
| TCGA novel | 795 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755445920 CA4781758 |
796 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371482618 rs1165864641 |
796 | F>S | No |
ClinGen TOPMed |
|
|
CA4781760 rs781728428 |
797 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781759 rs781728428 |
797 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781763 rs748924259 |
800 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770366064 CA4781764 |
801 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 803 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371482739 rs1444324997 |
805 | T>A | No |
ClinGen gnomAD |
|
|
CA4781765 rs140054176 |
807 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308735778 CA371482772 |
807 | I>V | No |
ClinGen gnomAD |
|
|
rs1282478344 CA371482804 |
809 | T>A | No |
ClinGen gnomAD |
|
|
rs1355800336 CA371482811 |
809 | T>I | No |
ClinGen gnomAD |
|
|
rs1355800336 CA371482807 |
809 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563431678 CA371482836 |
811 | D>G | No |
ClinGen Ensembl |
|
|
rs1456673547 CA371482856 |
812 | D>E | No |
ClinGen gnomAD |
|
|
CA371482852 rs1195245860 |
812 | D>G | No |
ClinGen TOPMed |
|
|
CA4781767 rs757936160 |
812 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA179276424 rs866902223 |
813 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4781768 rs573131458 |
816 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4781769 rs760428781 |
817 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA371482923 rs763836044 |
817 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4781770 rs763836044 |
817 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 818 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781771 rs750663805 |
818 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1585989494 CA371482945 |
819 | P>A | No |
ClinGen Ensembl |
|
|
rs1272340113 CA371482962 |
820 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371482960 rs1472182375 |
820 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1055472017 CA179276473 |
822 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1020508738 CA179276490 |
826 | Q>H | No |
ClinGen Ensembl |
|
|
CA4781774 rs202152751 |
826 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371483048 rs202152751 |
826 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418217608 CA371483060 |
827 | V>A | No |
ClinGen gnomAD |
|
|
CA4781775 rs755487896 |
828 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371483066 rs755487896 |
828 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371483073 rs1339877525 |
829 | S>C | No |
ClinGen gnomAD |
|
|
rs748627225 CA4781777 |
830 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781778 rs756573146 |
830 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781779 rs778227212 |
832 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs375999807 CA179276533 |
833 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs1481863531 CA371483102 |
834 | F>L | No |
ClinGen gnomAD |
|
|
CA371483124 rs1365387291 |
837 | K>E | No |
ClinGen TOPMed |
|
|
rs1253662073 CA371483135 |
838 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1253662073 CA371483136 |
838 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1162052821 CA371483132 |
838 | P>T | No |
ClinGen TOPMed |
|
|
rs770616167 CA4781782 CA4781781 |
839 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371483164 rs1259051861 |
843 | D>N | No |
ClinGen gnomAD |
|
|
rs1476787455 CA371483174 |
844 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371483187 rs1169950081 |
846 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 847 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371483194 rs1424062142 |
847 | E>Q | No |
ClinGen gnomAD |
|
|
CA4781783 rs565586056 |
848 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1401791514 CA371483216 |
850 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs149626685 CA4781785 |
851 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371483226 rs1271117316 |
852 | G>S | No |
ClinGen TOPMed |
|
|
rs1399927895 CA371483235 |
853 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1458157 rs768451519 CA4781787 |
854 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs776419810 CA4781788 |
855 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781789 rs138896608 |
856 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs563196308 CA4781791 |
858 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA179276564 rs1030627368 |
858 | D>V | No |
ClinGen TOPMed |
|
|
rs1211218036 CA371483271 |
859 | T>I | No |
ClinGen gnomAD |
|
|
rs1260903844 CA371483278 |
860 | G>V | No |
ClinGen TOPMed |
|
|
CA371483291 rs1284609531 |
862 | N>K | No |
ClinGen TOPMed |
|
|
rs200745790 CA4781793 |
862 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370061449 CA4781792 |
862 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192761766 CA371483296 |
863 | C>Y | No |
ClinGen gnomAD |
|
|
rs753271974 CA4781794 |
866 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs756626610 CA4781795 |
869 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371483351 rs1585989752 |
871 | V>M | No |
ClinGen Ensembl |
|
|
CA4781797 rs754213241 |
872 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1402763545 CA371483374 |
874 | V>I | No |
ClinGen TOPMed |
|
|
CA4781798 rs756904919 |
876 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4781799 rs778594379 |
876 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867679827 CA179276608 |
877 | D>N | No |
ClinGen Ensembl |
|
|
CA4781801 rs373156197 COSM1458158 |
878 | S>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4781802 rs779478658 |
880 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4781804 rs768574894 |
882 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA371483430 rs1332096458 CA371483429 |
882 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1563431931 CA371483438 |
883 | C>F | No |
ClinGen Ensembl |
|
|
CA4781805 rs776339998 |
883 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA179276635 rs753969891 |
883 | C>W | No |
ClinGen gnomAD |
|
|
CA4781806 rs748014676 |
885 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs748014676 CA179276654 |
885 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 888 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 888 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4781809 rs774657966 |
889 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 889 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 889 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179276703 rs958345534 |
890 | F>L | No |
ClinGen TOPMed |
|
|
CA371483485 rs1208055298 |
890 | F>L | No |
ClinGen gnomAD |
|
|
CA4781810 rs767711810 |
892 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781811 rs767711810 |
892 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371483511 rs1195670655 |
894 | I>V | No |
ClinGen gnomAD |
|
|
rs372736949 CA4781812 |
895 | H>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs866710129 CA179276717 |
895 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA371483538 rs1439123579 |
898 | P>A | No |
ClinGen gnomAD |
|
|
CA4781814 rs370294553 |
899 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4781815 COSM751834 rs757669458 |
900 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs779094874 CA4781816 |
901 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371483558 rs750103335 |
901 | T>K | No |
ClinGen ExAC TOPMed |
|
|
CA4781817 rs750103335 |
901 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA371483577 rs1219925157 |
903 | Y>C | No |
ClinGen gnomAD |
|
|
CA4781818 rs757976810 |
905 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4781819 rs549145869 |
906 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567445185 CA179276789 |
907 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs895585962 CA179276806 |
907 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs567445185 CA4781820 |
907 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200182849 CA179276809 |
909 | T>A | No |
ClinGen 1000Genomes |
|
|
CA371483687 rs1374233520 |
910 | S>G | No |
ClinGen gnomAD |
|
|
rs1239045721 CA371483697 |
910 | S>R | No |
ClinGen gnomAD |
|
|
CA371483722 rs768621667 CA4781821 |
911 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1563431999 CA371483727 |
912 | M>R | No |
ClinGen Ensembl |
No associated diseases with Q92953
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| regulation of smooth muscle contraction | Any process that modulates the frequency, rate or extent of smooth muscle contraction. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4ZHA6 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Bos taurus (Bovine) | PR |
| Q95167 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P17972 | Shaw | Potassium voltage-gated channel protein Shaw | Drosophila melanogaster (Fruit fly) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q9UK17 | KCND3 | Potassium voltage-gated channel subfamily D member 3 | Homo sapiens (Human) | PR |
| Q03721 | KCNC4 | Potassium voltage-gated channel subfamily C member 4 | Homo sapiens (Human) | PR |
| Q80XM3 | Kcng4 | Potassium voltage-gated channel subfamily G member 4 | Mus musculus (Mouse) | PR |
| Q03717 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Mus musculus (Mouse) | PR |
| O35174 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Mus musculus (Mouse) | PR |
| Q7TSH7 | Kcnf1 | Potassium voltage-gated channel subfamily F member 1 | Mus musculus (Mouse) | PR |
| A6H8H5 | Kcnb2 | Potassium voltage-gated channel subfamily B member 2 | Mus musculus (Mouse) | PR |
| O18868 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Sus scrofa (Pig) | PR |
| Q9ER26 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Rattus norvegicus (Rat) | PR |
| P15387 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEKAPPGLN | RKTSRSTLSL | PPEPVDIIRS | KTCSRRVKIN | VGGLNHEVLW | RTLDRLPRTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGKLRDCNTH | ESLLEVCDDY | NLNENEYFFD | RHPGAFTSIL | NFYRTGKLHM | MEEMCALSFG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QELDYWGIDE | IYLESCCQAR | YHQKKEQMNE | ELRREAETMR | EREGEEFDNT | CCPDKRKKLW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLLEKPNSSV | AAKILAIVSI | LFIVLSTIAL | SLNTLPELQE | TDEFGQLNDN | RQLAHVEAVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IAWFTMEYLL | RFLSSPNKWK | FFKGPLNVID | LLAILPYYVT | IFLTESNKSV | LQFQNVRRVV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QIFRIMRILR | ILKLARHSTG | LQSLGFTLRR | SYNELGLLIL | FLAMGIMIFS | SLVFFAEKDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DATKFTSIPA | SFWWATITMT | TVGYGDIYPK | TLLGKIVGGL | CCIAGVLVIA | LPIPIIVNNF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SEFYKEQKRQ | EKAIKRREAL | ERAKRNGSIV | SMNLKDAFAR | SMELIDVAVE | KAGESANTKD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SADDNHLSPS | RWKWARKALS | ETSSNKSFEN | KYQEVSQKDS | HEQLNNTSSS | SPQHLSAQKL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EMLYNEITKT | QPHSHPNPDC | QEKPERPSAY | EEEIEMEEVV | CPQEQLAVAQ | TEVIVDMKST |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSIDSFTSCA | TDFTETERSP | LPPPSASHLQ | MKFPTDLPGT | EEHQRARGPP | FLTLSREKGP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AARDGTLEYA | PVDITVNLDA | SGSQCGLHSP | LQSDNATDSP | KSSLKGSNPL | KSRSLKVNFK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ENRGSAPQTP | PSTARPLPVT | TADFSLTTPQ | HISTILLEET | PSQGDRPLLG | TEVSAPCQGP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SKGLSPRFPK | QKLFPFSSRE | RRSFTEIDTG | DDEDFLELPG | AREEKQVDSS | PNCFADKPSD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GRDPLREEGS | VGSSSPQDTG | HNCRQDIYHA | VSEVKKDSSQ | EGCKMENHLF | APEIHSNPGD |
| 910 | |||||
| TGYCPTRETS | M |