Q9H1H9
Gene name |
KIF13A (RBKIN) |
Protein name |
Kinesin-like protein KIF13A |
Names |
Kinesin-like protein RBKIN |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:63971 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
1-388 (Motor domain and neck coil) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q9H1H9
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9H1H9-F1 | Predicted | AlphaFoldDB |
1681 variants for Q9H1H9
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1201157053 | 2 | S>* | No | gnomAD | |
rs897813029 | 3 | D>G | No | TOPMed | |
rs1381065376 | 4 | T>N | No | TOPMed | |
rs1781676157 | 5 | K>R | No | Ensembl | |
rs1437827351 | 6 | V>I | No | TOPMed | |
rs2150659318 | 11 | R>Q | No | 1000Genomes | |
rs367718683 | 12 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs367718683 | 12 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs763638959 | 14 | P>A | No |
ExAC TOPMed gnomAD |
|
COSM1442411 COSM1442410 COSM4948347 |
14 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1338941852 | 15 | M>K | No | gnomAD | |
rs774830525 | 15 | M>L | No |
ExAC TOPMed gnomAD |
|
rs774830525 | 15 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1781673988 | 16 | N>H | No | Ensembl | |
rs917131859 | 17 | R>G | No |
TOPMed gnomAD |
|
rs1781673623 | 17 | R>Q | No | gnomAD | |
rs1329668277 | 18 | R>Q | No | gnomAD | |
rs774552274 | 19 | E>A | No |
ExAC gnomAD |
|
rs1412092640 | 19 | E>K | No | gnomAD | |
TCGA novel | 22 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 24 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1781638354 | 24 | T>P | No |
TOPMed gnomAD |
|
rs945806990 | 25 | K>Q | No |
TOPMed gnomAD |
|
rs749637872 | 25 | K>R | No |
ExAC TOPMed gnomAD |
|
rs749637872 | 25 | K>T | No |
ExAC TOPMed gnomAD |
|
rs1781636832 | 26 | C>G | No | TOPMed | |
rs1781636513 | 27 | V>A | No | Ensembl | |
rs1393844940 | 29 | E>V | No | TOPMed | |
rs769913734 | 30 | M>I | No |
ExAC TOPMed gnomAD |
|
rs745933017 | 32 | G>A | No |
ExAC gnomAD |
|
rs1781634843 | 33 | N>H | No |
TOPMed gnomAD |
|
rs1781634520 | 33 | N>I | No | Ensembl | |
rs1008730202 | 34 | Q>E | No | Ensembl | |
rs757154920 | 34 | Q>R | No |
ExAC gnomAD |
|
rs912944180 | 38 | H>Y | No |
TOPMed gnomAD |
|
rs1781631229 | 39 | P>L | No | Ensembl | |
COSM4812108 COSM420970 COSM1133768 |
39 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs777591110 | 39 | P>S | No |
ExAC TOPMed gnomAD |
|
rs1198330965 | 40 | P>L | No | gnomAD | |
rs1266700093 | 40 | P>S | No | gnomAD | |
rs148788770 | 41 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1488489966 | 41 | P>S | No | gnomAD | |
rs953588422 | 42 | S>F | No | TOPMed | |
rs367921778 COSM1487496 COSM450954 |
42 | S>P | breast [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs764935841 | 45 | K>R | No |
ExAC gnomAD |
|
rs759323519 | 46 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs538767258 | 48 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs766030430 | 49 | R>G | No |
ExAC gnomAD |
|
TCGA novel | 51 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs748079081 | 52 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1472518432 | 52 | P>S | No |
TOPMed gnomAD |
|
COSM4857674 COSM483721 COSM4857675 |
53 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1305886029 | 54 | V>L | No | gnomAD | |
rs376963344 | 56 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1459674149 | 59 | Y>C | No | gnomAD | |
rs2150436022 | 60 | C>F | No | Ensembl | |
rs1366748628 | 63 | S>F | No | gnomAD | |
rs767798014 | 64 | M>V | No |
ExAC gnomAD |
|
rs201865906 | 66 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
rs190798348 | 66 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs761732143 | 66 | E>K | No |
ExAC gnomAD |
|
rs1770200244 | 67 | S>T | No | Ensembl | |
rs750427547 | 68 | N>K | No |
ExAC TOPMed gnomAD |
|
rs566106960 | 69 | T>A | No |
1000Genomes ExAC gnomAD |
|
rs199883389 | 69 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1770199277 | 70 | T>* | No | Ensembl | |
rs868163134 | 70 | T>A | No |
TOPMed gnomAD |
|
rs1012630170 | 71 | K>I | No | gnomAD | |
rs1282096308 | 72 | Y>* | No | TOPMed | |
rs745688584 | 72 | Y>H | No |
ExAC gnomAD |
|
rs1286368039 | 73 | A>S | No |
TOPMed gnomAD |
|
rs1227765830 | 74 | G>S | No |
TOPMed gnomAD |
|
COSM261656 COSM3829736 COSM3829737 |
76 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1377472628 | 77 | V>M | No | gnomAD | |
rs371912600 | 80 | K>R | No | Ensembl | |
rs1262355882 | 81 | C>Y | No | Ensembl | |
rs1768111691 | 84 | E>K | No | Ensembl | |
rs1193421351 | 85 | G>E | No |
TOPMed gnomAD |
|
rs763146358 | 87 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs769774239 | 90 | A>S | No |
ExAC gnomAD |
|
rs769774239 | 90 | A>T | No |
ExAC gnomAD |
|
rs1187400912 | 91 | F>L | No | gnomAD | |
rs1768110240 | 94 | Y>H | No | Ensembl | |
rs776543375 | 96 | A>V | No |
ExAC gnomAD |
|
rs770464526 | 97 | C>S | No |
ExAC gnomAD |
|
rs1768108883 | 98 | I>S | No | TOPMed | |
rs777206426 | 98 | I>V | No | Ensembl | |
COSM4815792 COSM450953 COSM1487495 |
99 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1562061166 | 101 | Y>C | No | Ensembl | |
TCGA novel | 101 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1369154020 | 109 | S>C | No | gnomAD | |
COSM3623121 COSM3623120 COSM3623122 |
109 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3921127 COSM3921129 COSM3921128 |
111 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs377604358 | 112 | M>L | No |
ESP TOPMed |
|
rs377604358 | 112 | M>V | No |
ESP TOPMed |
|
rs1307000538 | 113 | M>I | No | gnomAD | |
rs1768063506 | 115 | H>R | No | Ensembl | |
rs375275290 | 115 | H>Y | No |
ESP TOPMed |
|
rs551855128 | 116 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs1650004805 | 117 | E>V | No | Ensembl | |
rs770182316 | 118 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1217732551 | 119 | L>P | No |
TOPMed gnomAD |
|
rs1160973273 | 119 | L>V | No | gnomAD | |
rs746430364 | 122 | I>V | No |
ExAC gnomAD |
|
rs1364308552 | 124 | R>K | No | gnomAD | |
rs781570360 | 125 | L>F | No |
ExAC TOPMed gnomAD |
|
rs757635579 | 127 | C>R | No |
ExAC TOPMed gnomAD |
|
rs1205042285 | 128 | A>V | No | gnomAD | |
rs747378600 | 129 | L>V | No |
ExAC gnomAD |
|
rs1204658061 | 130 | F>L | No | gnomAD | |
TCGA novel | 132 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778132880 | 133 | I>F | No |
ExAC gnomAD |
|
TCGA novel | 133 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778132880 | 133 | I>V | No |
ExAC gnomAD |
|
COSM3777346 COSM3777347 COSM3777345 |
134 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs370495452 | 134 | S>F | No |
ESP gnomAD |
|
rs758751233 | 135 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1455920973 | 137 | Q>K | No |
TOPMed gnomAD |
|
rs1355811246 | 137 | Q>P | No |
TOPMed gnomAD |
|
rs1355811246 | 137 | Q>R | No |
TOPMed gnomAD |
|
rs752696019 | 138 | N>I | No |
ExAC TOPMed gnomAD |
|
rs2150406119 | 138 | N>K | No | Ensembl | |
rs752696019 | 138 | N>S | No |
ExAC TOPMed gnomAD |
|
rs752696019 | 138 | N>T | No |
ExAC TOPMed gnomAD |
|
rs1230823848 | 139 | E>K | No | gnomAD | |
rs755042298 | 142 | T>A | No |
ExAC gnomAD |
|
rs753761466 | 144 | K>E | No |
ExAC gnomAD |
|
rs1351261913 | 145 | V>A | No | gnomAD | |
rs766318604 | 146 | E>K | No |
ExAC gnomAD |
|
rs1768057422 | 147 | V>M | No | Ensembl | |
rs1768057021 | 148 | S>C | No | Ensembl | |
rs773057861 | 149 | Y>C | No |
ExAC gnomAD |
|
rs761579923 | 150 | M>I | No |
ExAC gnomAD |
|
rs767147148 | 150 | M>T | No |
ExAC gnomAD |
|
rs1768056295 | 154 | N>S | No | gnomAD | |
rs1478438447 | 158 | R>Q | No |
TOPMed gnomAD |
|
COSM282221 rs73726225 |
158 | R>W | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM4816178 COSM450952 COSM1134257 |
160 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150406050 | 164 | K>Q | No | Ensembl | |
rs1219714287 | 165 | G>E | No |
TOPMed gnomAD |
|
rs1768055145 | 165 | G>R | No | TOPMed | |
rs1219714287 | 165 | G>V | No |
TOPMed gnomAD |
|
rs1314279712 | 166 | S>R | No |
TOPMed gnomAD |
|
rs1767701129 | 169 | S>Y | No | Ensembl | |
rs1276991766 | 172 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1767700917 | 172 | V>L | No | Ensembl | |
rs1218231290 COSM5709977 COSM5709978 COSM182140 |
173 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs866507448 | 173 | R>L | No | Ensembl | |
rs866507448 | 173 | R>Q | No | Ensembl | |
rs369988431 | 174 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs892103843 | 175 | H>R | No |
TOPMed gnomAD |
|
rs1767699312 | 176 | K>N | No | gnomAD | |
rs1767699092 | 177 | V>G | No | TOPMed | |
rs566406810 | 180 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs566406810 | 180 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2150401073 | 182 | V>L | No | Ensembl | |
rs200098741 | 183 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs536071727 | 184 | G>S | No |
1000Genomes ExAC gnomAD |
|
rs1767697234 | 187 | Q>E | No | TOPMed | |
TCGA novel | 189 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1767696536 | 190 | V>I | No | TOPMed | |
rs901138354 | 191 | T>I | No | TOPMed | |
rs901138354 | 191 | T>S | No | TOPMed | |
rs1031078336 | 191 | T>S | No | TOPMed | |
rs1412262999 | 195 | D>G | No | gnomAD | |
rs759136761 | 196 | I>T | No |
ExAC gnomAD |
|
rs1281211512 | 196 | I>V | No |
TOPMed gnomAD |
|
rs2150398963 | 198 | S>* | No | Ensembl | |
rs1767526276 | 202 | E>D | No | Ensembl | |
COSM3777343 COSM3777342 COSM3777344 |
202 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1767526508 | 202 | E>Q | No | Ensembl | |
rs1202537616 | 207 | R>* | No | gnomAD | |
COSM4857186 COSM1137483 COSM483720 |
207 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 207 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1581520319 | 207 | R>Q | No | Ensembl | |
rs1480118113 | 208 | T>M | No |
TOPMed gnomAD |
|
rs774636318 | 213 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1311891268 | 214 | M>I | No | gnomAD | |
rs768904476 | 214 | M>V | No |
ExAC gnomAD |
|
COSM2856159 COSM2856161 rs1038727795 COSM2856160 |
216 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs76740306 | 218 | S>T | No |
1000Genomes ExAC gnomAD |
|
rs944453104 | 219 | S>N | No | gnomAD | |
rs769818117 | 220 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs745949348 | 220 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM1285775 COSM1285774 |
220 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1459501990 | 222 | H>R | No | gnomAD | |
rs1767522257 | 223 | A>G | No | Ensembl | |
rs1767522021 | 224 | V>L | No |
TOPMed gnomAD |
|
TCGA novel | 229 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1348263906 | 230 | T>A | No | gnomAD | |
rs569555938 | 230 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 230 | T>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
RCV000972422 rs140337156 |
232 | T>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1458260804 | 232 | T>S | No | gnomAD | |
rs1418081522 | 233 | L>I | No | gnomAD | |
rs1269058074 | 235 | D>N | No |
TOPMed gnomAD |
|
rs1767519911 | 236 | L>M | No | gnomAD | |
rs777468774 | 237 | Q>H | No |
ExAC gnomAD |
|
rs375224761 | 238 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
rs1302679311 | 241 | S>Y | No | gnomAD | |
rs753377526 | 242 | G>E | No |
ExAC TOPMed gnomAD |
|
rs1367513260 | 242 | G>R | No |
TOPMed gnomAD |
|
rs755685728 | 243 | E>K | No |
ExAC gnomAD |
|
rs751964181 | 244 | K>R | No |
ExAC gnomAD |
|
rs977569625 | 245 | V>A | No |
TOPMed gnomAD |
|
rs1168895495 | 247 | K>N | No | gnomAD | |
rs764678759 | 247 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1450766444 | 249 | S>G | No | gnomAD | |
COSM595289 COSM1144126 COSM1650569 |
254 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4782865 COSM1442408 rs775888626 COSM1442409 |
254 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1767410613 | 257 | E>K | No | TOPMed | |
rs759791058 | 258 | R>S | No |
ExAC gnomAD |
|
rs1581516944 | 259 | V>G | No | Ensembl | |
rs1734450669 | 259 | V>L | No | TOPMed | |
TCGA novel | 260 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs554852294 | 260 | S>F | No |
ExAC gnomAD |
|
rs2150397602 | 265 | A>G | No | 1000Genomes | |
rs772954554 | 265 | A>S | No |
ExAC TOPMed gnomAD |
|
rs747944740 | 266 | G>R | No |
ExAC gnomAD |
|
rs778901339 | 267 | E>G | No |
ExAC gnomAD |
|
rs1252953122 | 267 | E>K | No | gnomAD | |
rs377524718 | 268 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs1308235773 | 268 | R>Q | No |
TOPMed gnomAD |
|
rs748855782 | 270 | K>R | No | ExAC | |
rs1767405969 | 272 | G>S | No | TOPMed | |
rs1767405484 | 273 | S>G | No | Ensembl | |
rs779782546 | 273 | S>R | No |
ExAC gnomAD |
|
COSM5061664 COSM267994 COSM5061663 |
278 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1392318617 | 280 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
TCGA novel | 282 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1460876287 | 283 | G>W | No | gnomAD | |
rs779508654 | 286 | I>M | No |
ExAC gnomAD |
|
rs749123689 | 286 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1766080379 | 288 | S>L | No | TOPMed | |
rs769541785 | 290 | A>S | No |
ExAC TOPMed gnomAD |
|
rs769541785 | 290 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1766078881 | 291 | D>G | No | TOPMed | |
rs1181417033 | 291 | D>N | No |
TOPMed gnomAD |
|
rs745345224 | 292 | Q>R | No |
ExAC gnomAD |
|
rs780716160 | 294 | A>P | No |
ExAC gnomAD |
|
rs1175467159 | 297 | G>C | No |
TOPMed gnomAD |
|
rs758508802 | 303 | P>R | No | Ensembl | |
rs200179034 | 304 | Y>F | No |
ESP ExAC TOPMed gnomAD |
|
rs1424182248 | 305 | R>Q | No |
TOPMed gnomAD |
|
rs753152754 | 306 | D>H | No |
ExAC TOPMed gnomAD |
|
rs1766075092 | 306 | D>V | No | Ensembl | |
COSM4844971 COSM4844970 COSM4844972 |
307 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs868036391 | 309 | L>F | No | Ensembl | |
rs1230619489 | 311 | W>C | No | gnomAD | |
rs1322422211 | 316 | N>T | No |
TOPMed gnomAD |
|
rs140191648 | 317 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs74782516 | 317 | L>W | No | Ensembl | |
rs1334588650 | 318 | G>W | No | gnomAD | |
COSM5153874 COSM1442406 COSM1442407 |
319 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1397117772 | 321 | S>R | No | gnomAD | |
COSM3921125 COSM3921124 COSM3921126 |
324 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780507229 | 325 | M>I | No |
ExAC gnomAD |
|
rs375428169 | 325 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
rs375428169 | 325 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2150380159 | 326 | I>M | No | Ensembl | |
rs1766030427 | 326 | I>V | No |
TOPMed gnomAD |
|
rs1581472551 | 329 | I>T | No | Ensembl | |
rs1766030149 | 329 | I>V | No | Ensembl | |
rs1581472541 | 330 | S>N | No | TOPMed | |
rs1581472541 | 330 | S>T | No | TOPMed | |
rs1562037576 | 331 | P>L | No | Ensembl | |
rs750628331 | 333 | A>S | No |
ExAC TOPMed gnomAD |
|
rs750628331 | 333 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1241822646 | 333 | A>V | No | gnomAD | |
rs1211255199 | 334 | D>N | No | gnomAD | |
COSM3623115 COSM3623116 COSM3623114 |
335 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1766025868 | 337 | E>G | No |
1000Genomes TOPMed |
|
rs1277718786 | 337 | E>K | No | gnomAD | |
rs910220165 | 339 | T>A | No | Ensembl | |
rs1766024815 | 340 | L>P | No | Ensembl | |
rs764098650 | 346 | A>V | No |
ExAC gnomAD |
|
rs1449942004 | 348 | R>G | No | gnomAD | |
rs955140378 | 348 | R>Q | No |
TOPMed gnomAD |
|
rs1766022545 | 349 | A>T | No | TOPMed | |
rs1403819560 | 350 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1301169091 | 353 | V>M | No | TOPMed | |
rs1419407506 | 355 | H>R | No |
TOPMed gnomAD |
|
rs772803256 | 356 | A>D | No |
ExAC TOPMed gnomAD |
|
rs772803256 | 356 | A>V | No |
ExAC TOPMed gnomAD |
|
rs561202901 | 358 | V>A | No |
1000Genomes ExAC gnomAD |
|
rs776198139 | 358 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1766019003 | 359 | N>S | No | TOPMed | |
TCGA novel | 361 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs972725145 | 362 | P>L | No | Ensembl | |
rs1278722927 | 363 | N>D | No |
TOPMed gnomAD |
|
rs1278722927 | 363 | N>H | No |
TOPMed gnomAD |
|
rs199847865 | 363 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1252489635 | 363 | N>S | No |
TOPMed gnomAD |
|
COSM450951 rs368453026 COSM1487494 |
364 | A>T | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1766017188 | 364 | A>V | No | Ensembl | |
rs780449304 | 365 | K>E | No |
ExAC gnomAD |
|
rs1766016713 | 367 | I>F | No | TOPMed | |
rs1004220316 | 368 | R>* | No | TOPMed | |
rs1004220316 | 368 | R>G | No | TOPMed | |
COSM4786501 COSM1442405 COSM1442404 |
368 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs376646474 | 368 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1766015421 | 369 | E>D | No | TOPMed | |
rs1353286062 | 369 | E>K | No | gnomAD | |
rs781564779 | 371 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs746241908 | 371 | R>W | No |
ExAC TOPMed gnomAD |
|
rs371586560 | 373 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764189371 | 374 | V>I | No |
ExAC TOPMed gnomAD |
|
rs764189371 | 374 | V>L | No |
ExAC TOPMed gnomAD |
|
rs765089174 | 375 | E>A | No |
ExAC gnomAD |
|
rs201673713 | 375 | E>D | No |
ExAC TOPMed gnomAD |
|
rs765089174 | 375 | E>G | No |
ExAC gnomAD |
|
COSM6106234 COSM6106236 COSM6106235 rs752618857 COSM1650570 COSM595290 COSM1144125 |
375 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1416065098 | 378 | R>G | No | gnomAD | |
TCGA novel | 379 | E>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1766011677 | 379 | E>Q | No |
TOPMed gnomAD |
|
rs1473163877 | 380 | Q>* | No | gnomAD | |
rs1473163877 | 380 | Q>K | No | gnomAD | |
rs1252217511 | 380 | Q>L | No | gnomAD | |
rs776467254 | 381 | L>V | No |
ExAC gnomAD |
|
rs905388243 | 382 | S>C | No |
TOPMed gnomAD |
|
rs905388243 | 382 | S>F | No |
TOPMed gnomAD |
|
rs1215435208 | 383 | Q>E | No | gnomAD | |
TCGA novel | 383 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765993037 | 383 | Q>R | No |
ExAC gnomAD |
|
COSM6173566 COSM6173568 COSM6173567 |
384 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760361283 | 384 | A>T | No |
ExAC gnomAD |
|
rs771562734 | 385 | E>K | No |
ExAC gnomAD |
|
rs771360881 | 387 | M>V | No |
ExAC gnomAD |
|
rs1377828752 | 388 | K>Q | No |
TOPMed gnomAD |
|
rs1452000005 | 389 | A>S | No |
TOPMed gnomAD |
|
rs1452000005 | 389 | A>T | No |
TOPMed gnomAD |
|
rs1765707226 | 390 | P>S | No | TOPMed | |
rs1393987610 | 392 | L>P | No | gnomAD | |
TCGA novel | 393 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2150376301 | 393 | K>T | No | Ensembl | |
rs778050727 | 396 | L>F | No |
ExAC gnomAD |
|
rs184385862 | 397 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs184385862 | 397 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs35188434 | 399 | S>A | No | Ensembl | |
rs867493334 | 399 | S>F | No | Ensembl | |
rs1027014590 | 403 | I>M | No | TOPMed | |
COSM1442402 COSM4786328 COSM1442403 |
404 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1765704912 | 405 | E>G | No | Ensembl | |
rs2150376263 | 406 | L>Q | No | Ensembl | |
rs1302795878 | 407 | T>I | No |
TOPMed gnomAD |
|
rs1353521768 | 410 | W>* | No | TOPMed | |
rs1002184263 | 411 | E>G | No | Ensembl | |
rs4716190 | 415 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM224680 COSM3829731 COSM3829732 |
418 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1381985985 | 420 | I>L | No |
TOPMed gnomAD |
|
rs1376485977 | 420 | I>R | No | gnomAD | |
rs1374259000 | 421 | A>E | No | gnomAD | |
rs1432498590 | 421 | A>T | No | gnomAD | |
rs1212476382 | 422 | Q>* | No | gnomAD | |
rs761425219 | 422 | Q>H | No | ExAC | |
TCGA novel | 426 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1212347 rs763841192 COSM1212346 |
426 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs757974953 | 427 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs752311361 | 428 | L>F | No |
ExAC TOPMed gnomAD |
|
rs752311361 | 428 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1765418570 | 430 | S>N | No | TOPMed | |
rs1195668940 | 431 | M>V | No | gnomAD | |
COSM1442399 rs1336109030 COSM1442398 |
432 | G>E | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
rs972114894 | 434 | S>P | No | gnomAD | |
rs369179322 | 435 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1765417184 | 436 | E>D | No | TOPMed | |
TCGA novel | 436 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1456722627 | 437 | M>V | No |
TOPMed gnomAD |
|
COSM1137482 COSM483719 |
439 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762252182 | 441 | K>R | No |
ExAC gnomAD |
|
rs1333431547 | 443 | G>E | No | gnomAD | |
rs768936416 | 444 | D>A | No |
ExAC TOPMed gnomAD |
|
rs146614687 | 444 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs569310446 | 444 | D>N | No |
1000Genomes ExAC gnomAD |
|
rs569310446 | 444 | D>Y | No |
1000Genomes ExAC gnomAD |
|
rs369108069 | 445 | D>G | No | Ensembl | |
rs370056121 | 446 | K>R | No |
ESP TOPMed gnomAD |
|
rs769743376 | 447 | C>F | No |
ExAC gnomAD |
|
rs775600287 | 447 | C>R | No |
ExAC TOPMed gnomAD |
|
rs912763037 | 447 | C>W | No |
TOPMed gnomAD |
|
rs769743376 | 447 | C>Y | No |
ExAC gnomAD |
|
rs1765411999 | 449 | L>V | No | Ensembl | |
rs1765411696 | 451 | N>D | No | Ensembl | |
rs1765411401 | 451 | N>S | No | Ensembl | |
rs1471287927 | 452 | L>P | No |
TOPMed gnomAD |
|
rs745739374 | 452 | L>V | No |
ExAC gnomAD |
|
rs1181164813 | 456 | P>S | No | gnomAD | |
COSM2856121 COSM2856122 COSM2856120 |
458 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756933415 | 459 | N>H | No |
ExAC gnomAD |
|
rs746886160 | 459 | N>S | No |
ExAC TOPMed gnomAD |
|
rs377226069 | 460 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA |
rs1468289329 | 461 | L>H | No | gnomAD | |
rs1362562310 | 469 | H>Y | No | gnomAD | |
rs1765154025 | 470 | T>S | No | Ensembl | |
rs772022917 | 471 | R>T | No |
ExAC gnomAD |
|
rs1428355504 | 473 | G>D | No | gnomAD | |
rs1765153217 | 475 | D>H | No | gnomAD | |
rs1449617517 | 477 | S>C | No | gnomAD | |
rs1765152593 | 478 | Q>E | No | TOPMed | |
COSM4393384 COSM4393383 COSM4393382 |
479 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1765152416 | 479 | D>N | No | TOPMed | |
COSM1596128 COSM1076354 COSM1596127 |
480 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1164036242 | 481 | Q>R | No | TOPMed | |
rs747753942 | 484 | G>D | No | ExAC | |
rs778641370 | 485 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1765151188 | 487 | I>T | No | TOPMed | |
rs949707104 | 489 | P>L | No | Ensembl | |
rs754379361 | 489 | P>S | No |
ExAC gnomAD |
|
COSM4937948 COSM4937949 COSM4937950 |
490 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 490 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1414045157 | 492 | C>S | No | gnomAD | |
rs1184765054 | 493 | E>K | No |
TOPMed gnomAD |
|
rs1765149721 | 494 | I>T | No | Ensembl | |
rs1420834303 | 496 | I>V | No | gnomAD | |
rs1474607783 | 497 | A>T | No |
TOPMed gnomAD |
|
rs1765148546 | 498 | S>P | No | Ensembl | |
rs1262947285 | 499 | D>H | No | gnomAD | |
rs1765148156 | 499 | D>V | No | gnomAD | |
rs1486450824 | 502 | V>I | No |
TOPMed gnomAD |
|
rs1765146639 | 503 | T>I | No |
TOPMed gnomAD |
|
rs764406869 | 503 | T>S | No |
ExAC gnomAD |
|
rs2150368454 | 504 | L>V | No | Ensembl | |
rs2150368451 | 505 | T>A | No | Ensembl | |
rs1209506776 | 505 | T>I | No |
TOPMed gnomAD |
|
rs1765145785 | 506 | P>A | No | gnomAD | |
rs752846173 | 506 | P>L | No |
ExAC gnomAD |
|
rs934877720 | 507 | K>N | No | TOPMed | |
rs1360956670 | 510 | A>S | No |
TOPMed gnomAD |
|
rs1360956670 | 510 | A>T | No |
TOPMed gnomAD |
|
rs759518782 | 511 | R>G | No |
ExAC TOPMed gnomAD |
|
rs914476784 | 512 | S>F | No |
TOPMed gnomAD |
|
rs1209022824 | 513 | C>S | No |
TOPMed gnomAD |
|
rs1209022824 | 513 | C>Y | No |
TOPMed gnomAD |
|
rs868601077 | 516 | G>D | No | gnomAD | |
rs1018752418 | 516 | G>R | No |
TOPMed gnomAD |
|
rs1018752418 | 516 | G>S | No |
TOPMed gnomAD |
|
rs1764939304 | 517 | T>A | No | gnomAD | |
rs368788633 | 517 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs368788633 | 517 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1764938628 | 518 | L>V | No | TOPMed | |
TCGA novel | 519 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1764938067 | 521 | S>G | No | gnomAD | |
rs1764937840 | 521 | S>N | No | Ensembl | |
rs1764937637 | 522 | T>I | No | Ensembl | |
rs1419320894 | 523 | T>S | No | gnomAD | |
rs753115739 | 524 | Q>E | No | ExAC | |
rs1174973931 | 524 | Q>R | No |
TOPMed gnomAD |
|
rs35635947 | 525 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1303793917 | 525 | L>Q | No | gnomAD | |
COSM3860654 COSM3860653 COSM3860652 |
526 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1253528325 | 526 | W>C | No | gnomAD | |
rs1764936054 | 527 | H>Y | No | Ensembl | |
COSM3860651 COSM3860650 rs866916195 COSM3860649 |
530 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
COSM275727 rs1764935495 |
530 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
COSM3410816 COSM3410815 COSM3410817 |
532 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1264650135 | 534 | G>R | No | gnomAD | |
COSM2856113 COSM1442397 COSM1442396 |
539 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1764934824 | 539 | F>L | No | TOPMed | |
rs754033269 | 541 | I>T | No |
ExAC gnomAD |
|
rs1764924566 | 544 | P>R | No |
TOPMed gnomAD |
|
rs1383109527 | 544 | P>T | No | gnomAD | |
rs111458322 | 545 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1374321464 | 547 | K>E | No | gnomAD | |
rs200546188 | 548 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767541977 | 548 | R>H | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 548 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs200546188 | 548 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM5515116 COSM282220 COSM5515117 rs1489727131 |
549 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs868551894 | 549 | R>Q | No |
TOPMed gnomAD |
|
rs1463211990 | 550 | D>V | No | Ensembl | |
rs761883927 | 551 | W>C | No |
ExAC gnomAD |
|
rs1562022687 | 552 | L>F | No | Ensembl | |
rs962986544 | 554 | D>G | No | Ensembl | |
rs962986544 | 554 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs774189643 | 555 | F>L | No |
ExAC TOPMed gnomAD |
|
rs1764921958 | 555 | F>L | No | Ensembl | |
rs763904226 | 556 | E>G | No |
ExAC gnomAD |
|
rs370847942 | 559 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1581434176 | 559 | T>P | No | Ensembl | |
rs745356933 | 561 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1281400011 | 564 | H>R | No | gnomAD | |
rs1581434087 | 565 | D>A | No | Ensembl | |
rs770457657 | 566 | L>P | No |
ExAC TOPMed gnomAD |
|
rs748638232 | 567 | D>A | No |
ExAC gnomAD |
|
rs967700130 | 568 | A>T | No | TOPMed | |
TCGA novel | 569 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1764918757 | 570 | S>C | No |
TOPMed gnomAD |
|
rs1255894708 | 570 | S>R | No | gnomAD | |
rs1764918387 | 572 | A>T | No | gnomAD | |
rs1391936531 | 573 | S>C | No |
TOPMed gnomAD |
|
rs1391936531 | 573 | S>F | No |
TOPMed gnomAD |
|
rs866509249 | 574 | S>Y | No | Ensembl | |
rs999980303 | 575 | E>D | No |
TOPMed gnomAD |
|
rs1228838176 | 576 | P>L | No | gnomAD | |
rs1764916661 | 577 | D>G | No | Ensembl | |
rs1256498250 | 577 | D>H | No | gnomAD | |
rs749682554 | 578 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs1399852443 | 579 | N>S | No |
TOPMed gnomAD |
|
rs1483476338 | 580 | Y>C | No |
TOPMed gnomAD |
|
rs780411887 | 580 | Y>H | No |
ExAC gnomAD |
|
rs756454963 | 581 | E>K | No | ExAC | |
COSM1154624 COSM4870797 COSM1076352 |
581 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 583 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 583 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2150365417 | 584 | Q>E | No | Ensembl | |
rs750501727 | 585 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1412348036 | 585 | M>K | No | gnomAD | |
rs781383135 | 588 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1223453963 | 588 | I>V | No |
TOPMed gnomAD |
|
rs902524477 | 589 | M>I | No | Ensembl | |
rs1253178495 | 589 | M>L | No | gnomAD | |
rs1253178495 | 589 | M>V | No | gnomAD | |
rs771102186 | 597 | P>L | No | ExAC | |
rs192358685 | 597 | P>T | No |
1000Genomes ExAC |
|
rs1417042238 | 598 | V>A | No | TOPMed | |
rs1165077870 | 598 | V>L | No | TOPMed | |
rs187906244 | 599 | Q>E | No |
1000Genomes ExAC |
|
rs1052153695 | 599 | Q>R | No | gnomAD | |
rs777668774 | 600 | N>D | No |
ExAC gnomAD |
|
rs1764027781 | 600 | N>K | No | TOPMed | |
COSM3994742 COSM3994743 COSM3994744 rs1210948997 |
602 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1764027420 | 603 | Q>H | No | Ensembl | |
COSM1076350 COSM1596130 COSM1596129 |
606 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1390884154 | 608 | Q>R | No |
TOPMed gnomAD |
|
rs754754776 | 609 | Y>H | No |
ExAC TOPMed gnomAD |
|
COSM2856100 COSM1196653 COSM1196652 rs753700328 |
610 | L>V | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1338695019 | 613 | K>R | No | gnomAD | |
rs1581403731 | 614 | R>S | No | gnomAD | |
rs369577474 | 619 | E>Q | No |
ESP ExAC gnomAD |
|
rs761409991 | 621 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1764023441 | 621 | R>W | No |
TOPMed gnomAD |
|
rs1246843671 | 623 | M>T | No | Ensembl | |
COSM3623104 COSM3623102 COSM3623103 |
623 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765898617 | 624 | Y>C | No |
ExAC gnomAD |
|
rs1764022192 | 625 | E>K | No | TOPMed | |
COSM3860646 rs776913211 COSM3860647 COSM3860648 |
626 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2150355029 COSM1621238 COSM1621237 COSM1621236 |
626 | R>W | liver [Cosmic] | No |
cosmic curated Ensembl |
rs773490796 | 627 | E>D | No |
ExAC gnomAD |
|
rs199545656 | 627 | E>K | No |
ExAC TOPMed gnomAD |
|
rs748286787 | 630 | Q>E | No |
ExAC gnomAD |
|
rs1050493386 | 630 | Q>H | No | gnomAD | |
rs1581403493 | 631 | L>P | No | Ensembl | |
rs778818169 | 632 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs754947976 | 632 | R>H | No |
ExAC TOPMed gnomAD |
|
rs754947976 | 632 | R>P | No |
ExAC TOPMed gnomAD |
|
rs1764019791 | 633 | Q>H | No | TOPMed | |
rs1243179671 | 634 | Q>H | No | TOPMed | |
rs903296544 | 634 | Q>R | No |
TOPMed gnomAD |
|
rs1581403413 | 635 | L>P | No | Ensembl | |
rs1216547371 | 636 | S>C | No | gnomAD | |
rs1581403395 | 636 | S>P | No | Ensembl | |
rs749059679 | 637 | P>S | No |
ExAC gnomAD |
|
rs749059679 | 637 | P>T | No |
ExAC gnomAD |
|
rs749973962 | 638 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1581403320 | 639 | R>G | No | Ensembl | |
rs1381359093 | 639 | R>K | No | gnomAD | |
rs1204925012 | 639 | R>S | No |
TOPMed gnomAD |
|
rs1301176260 | 640 | Q>H | No |
TOPMed gnomAD |
|
rs1581403264 | 641 | P>A | No | Ensembl | |
rs767209431 | 641 | P>L | No |
ExAC TOPMed gnomAD |
|
rs767209431 | 641 | P>Q | No |
ExAC TOPMed gnomAD |
|
rs1418673915 | 643 | S>N | No |
TOPMed gnomAD |
|
rs751158530 | 643 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1253744102 | 645 | G>D | No | gnomAD | |
rs371481890 | 645 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1764015491 | 646 | P>L | No | TOPMed | |
rs777228908 | 646 | P>S | No |
ExAC gnomAD |
|
rs766587571 | 647 | D>A | No |
ExAC gnomAD |
|
rs766587571 | 647 | D>G | No |
ExAC gnomAD |
|
rs1764014888 | 648 | R>C | No |
TOPMed gnomAD |
|
rs932259103 | 648 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs932259103 | 648 | R>P | No |
TOPMed gnomAD |
|
rs1239902675 | 650 | A>T | No |
TOPMed gnomAD |
|
rs772348284 | 651 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs773294233 | 651 | Y>H | No |
ExAC gnomAD |
|
rs1764013529 | 652 | S>G | No | Ensembl | |
rs761849509 | 653 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1764012978 | 655 | T>A | No | TOPMed | |
rs769462021 | 656 | A>T | No | Ensembl | |
rs768744386 | 656 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1227791929 | 657 | Q>R | No |
TOPMed gnomAD |
|
rs780042277 | 659 | K>Q | No |
ExAC gnomAD |
|
rs1581402971 | 660 | V>G | No | Ensembl | |
rs769414007 | 660 | V>L | No |
ExAC TOPMed gnomAD |
|
rs745729592 | 661 | T>N | No |
ExAC gnomAD |
|
rs745729592 | 661 | T>S | No |
ExAC gnomAD |
|
rs757023213 | 664 | A>P | No |
ExAC TOPMed gnomAD |
|
rs757023213 | 664 | A>S | No |
ExAC TOPMed gnomAD |
|
rs757023213 | 664 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1764010441 | 666 | E>* | No | Ensembl | |
rs757989336 | 666 | E>D | No |
ExAC gnomAD |
|
rs575782974 | 666 | E>G | No |
1000Genomes ExAC gnomAD |
|
rs575782974 | 666 | E>V | No |
1000Genomes ExAC gnomAD |
|
rs754242420 | 667 | R>T | No |
ExAC gnomAD |
|
rs780376924 | 669 | E>D | No |
ExAC gnomAD |
|
rs1217645186 | 669 | E>K | No |
TOPMed gnomAD |
|
rs1388089444 | 671 | F>L | No | TOPMed | |
rs1314241716 | 672 | R>* | No | gnomAD | |
rs746859406 | 672 | R>P | No |
ExAC TOPMed gnomAD |
|
rs746859406 | 672 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs549732971 | 676 | A>E | No |
1000Genomes ExAC gnomAD |
|
rs549732971 | 676 | A>G | No |
1000Genomes ExAC gnomAD |
|
rs1282088227 | 677 | K>E | No | gnomAD | |
rs771797492 | 679 | R>* | No |
ExAC TOPMed gnomAD |
|
rs747590404 | 679 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1763200900 | 681 | Q>R | No | Ensembl | |
rs1390996248 | 686 | N>S | No | TOPMed | |
rs1189693919 | 687 | T>N | No | gnomAD | |
TCGA novel rs370516567 |
688 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ESP ExAC TOPMed gnomAD |
rs377660043 | 689 | V>L | No |
ESP TOPMed gnomAD |
|
rs1432845228 | 692 | A>T | No |
TOPMed gnomAD |
|
rs1235817660 | 692 | A>V | No | TOPMed | |
rs1275839559 | 693 | N>D | No |
TOPMed gnomAD |
|
rs1459323073 | 693 | N>K | No |
TOPMed gnomAD |
|
rs1256559133 | 695 | L>M | No | gnomAD | |
rs1324550631 | 696 | A>G | No | gnomAD | |
rs751985111 | 696 | A>T | No |
ExAC gnomAD |
|
COSM3777339 COSM3777340 COSM3777341 |
697 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1356593399 | 700 | S>G | No | gnomAD | |
rs1763197203 | 700 | S>N | No | TOPMed | |
rs764265841 | 701 | K>E | No |
ExAC TOPMed gnomAD |
|
rs1241944704 | 701 | K>I | No | gnomAD | |
COSM3921123 COSM3921122 COSM3921121 |
703 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs370174871 | 704 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
rs370174871 | 704 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs370174871 | 704 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs766492554 | 708 | T>A | No |
ExAC gnomAD |
|
rs1165263482 | 708 | T>I | No | gnomAD | |
rs766492554 | 708 | T>S | No |
ExAC gnomAD |
|
rs760515749 COSM3393990 COSM3393992 COSM3393991 |
710 | Q>R | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs773191114 | 711 | I>M | No |
ExAC gnomAD |
|
rs973933871 | 712 | P>L | No |
TOPMed gnomAD |
|
rs973933871 | 712 | P>R | No |
TOPMed gnomAD |
|
rs2150344209 | 712 | P>T | No | Ensembl | |
rs1442077923 | 713 | A>T | No | gnomAD | |
rs1175798971 | 714 | A>E | No | gnomAD | |
rs1175798971 | 714 | A>V | No | gnomAD | |
rs1236942436 | 716 | L>F | No | gnomAD | |
rs747797233 | 718 | A>T | No |
ExAC gnomAD |
|
rs1452587260 | 719 | N>D | No | gnomAD | |
rs1245952704 | 719 | N>S | No | Ensembl | |
rs373203654 | 720 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
rs373203654 | 720 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1762870549 | 722 | R>G | No | gnomAD | |
rs767276586 | 724 | A>S | No |
ExAC gnomAD |
|
rs767276586 | 724 | A>T | No |
ExAC gnomAD |
|
rs545311161 | 726 | V>G | No |
1000Genomes ExAC gnomAD |
|
rs1358726104 | 727 | S>R | No | gnomAD | |
rs1168382464 | 728 | E>A | No | Ensembl | |
rs774038439 | 730 | A>T | No |
ExAC gnomAD |
|
rs1427947280 | 731 | I>F | No | gnomAD | |
rs768256939 | 731 | I>S | No |
ExAC TOPMed gnomAD |
|
rs1581361645 | 735 | R>K | No | TOPMed | |
rs1762868746 | 737 | G>E | No |
TOPMed gnomAD |
|
rs1423859782 | 739 | S>C | No |
TOPMed gnomAD |
|
rs1423859782 | 739 | S>G | No |
TOPMed gnomAD |
|
rs201227106 | 742 | V>A | No | gnomAD | |
rs775025708 | 745 | I>L | No |
ExAC TOPMed gnomAD |
|
rs769312626 | 745 | I>T | No |
ExAC TOPMed gnomAD |
|
rs775025708 | 745 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1210287245 | 746 | E>V | No | gnomAD | |
rs747452757 | 749 | E>D | No |
ExAC TOPMed gnomAD |
|
rs2150340038 | 749 | E>V | No | Ensembl | |
rs1762866642 | 753 | I>T | No |
TOPMed gnomAD |
|
rs1279018298 | 754 | D>G | No | gnomAD | |
COSM1596133 COSM1596134 COSM1076344 |
755 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1220710304 | 757 | D>Y | No | gnomAD | |
rs755300488 | 758 | L>F | No |
ExAC gnomAD |
|
rs780240346 | 759 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs754136335 | 759 | Y>N | No |
ExAC TOPMed gnomAD |
|
rs1332818199 | 763 | K>E | No | gnomAD | |
rs750314357 | 764 | E>D | No |
ExAC gnomAD |
|
rs201426866 | 764 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs767411948 | 765 | K>E | No |
ExAC gnomAD |
|
TCGA novel | 766 | V>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs761661761 | 766 | V>I | No |
ExAC gnomAD |
|
rs751348105 | 767 | P>A | No |
ExAC gnomAD |
|
COSM3410813 COSM3410814 COSM3410812 |
768 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs567873540 | 770 | K>E | No |
1000Genomes ExAC gnomAD |
|
rs9358140 | 771 | R>K | No |
ExAC TOPMed gnomAD |
|
rs9358140 | 771 | R>T | No |
ExAC TOPMed gnomAD |
|
rs756248183 | 772 | L>I | No |
ExAC TOPMed gnomAD |
|
rs1176522355 | 774 | G>A | No | gnomAD | |
rs764497166 | 774 | G>R | No |
ExAC gnomAD |
|
COSM5154412 COSM1442394 COSM1442395 |
775 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1232479730 | 776 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs961791795 | 777 | G>D | No | TOPMed | |
rs1222620222 | 777 | G>R | No | gnomAD | |
rs1222620222 | 777 | G>S | No | gnomAD | |
rs1323522887 | 778 | D>N | No | gnomAD | |
rs1287824852 | 779 | P>A | No | gnomAD | |
rs1762757868 | 779 | P>R | No | Ensembl | |
COSM4947817 COSM1442392 COSM1442393 |
780 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757188997 | 781 | Y>C | No |
ExAC gnomAD |
|
rs1024140355 | 781 | Y>H | No |
TOPMed gnomAD |
|
rs751533445 | 783 | A>P | No |
ExAC TOPMed gnomAD |
|
rs751533445 | 783 | A>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 785 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs969121555 | 786 | N>D | No | Ensembl | |
rs1444971735 | 787 | H>R | No | gnomAD | |
rs758205572 | 788 | N>D | No |
ExAC TOPMed gnomAD |
|
rs758205572 | 788 | N>H | No |
ExAC TOPMed gnomAD |
|
rs1392808385 | 788 | N>K | No | TOPMed | |
rs377522532 | 788 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs764940401 | 789 | L>V | No |
ExAC gnomAD |
|
rs776055042 | 790 | I>T | No |
ExAC gnomAD |
|
rs537563876 | 790 | I>V | No |
1000Genomes ExAC gnomAD |
|
rs1382070598 | 791 | G>A | No | gnomAD | |
rs865883552 | 791 | G>R | No | Ensembl | |
rs865883552 | 791 | G>W | No | Ensembl | |
rs991788242 | 792 | V>L | No |
TOPMed gnomAD |
|
rs1267793518 | 793 | A>S | No | gnomAD | |
rs774925806 | 795 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1221818829 | 796 | F>S | No | gnomAD | |
rs1762752736 | 798 | E>K | No | TOPMed | |
rs1031228689 | 800 | L>F | No |
TOPMed gnomAD |
|
rs1031228689 | 800 | L>V | No |
TOPMed gnomAD |
|
rs1316643164 | 801 | F>L | No |
TOPMed gnomAD |
|
rs775849508 | 801 | F>L | No |
ExAC TOPMed gnomAD |
|
rs377260168 | 802 | C>R | No |
ESP TOPMed gnomAD |
|
rs1365012546 | 803 | D>G | No |
TOPMed gnomAD |
|
rs1365012546 | 803 | D>V | No |
TOPMed gnomAD |
|
rs1435615603 | 804 | V>G | No | gnomAD | |
rs1233687923 | 805 | K>T | No |
TOPMed gnomAD |
|
rs764895482 | 807 | Q>H | No | gnomAD | |
rs778278248 | 808 | Y>* | No | ExAC | |
TCGA novel | 808 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs745933985 | 810 | V>G | No |
ExAC gnomAD |
|
rs1452979067 | 812 | I>V | No |
TOPMed gnomAD |
|
rs373449548 | 813 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1762749270 | 814 | S>T | No | Ensembl | |
rs776043267 | 819 | V>L | No |
ExAC gnomAD |
|
rs1561988766 | 820 | A>V | No | gnomAD | |
rs770300082 | 822 | R>C | No |
ExAC gnomAD |
|
rs1226003141 | 822 | R>H | No |
TOPMed gnomAD |
|
rs770905756 | 825 | V>L | No |
ExAC TOPMed gnomAD |
|
rs770905756 | 825 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1762356543 | 827 | V>A | No | TOPMed | |
rs1762356226 | 828 | M>T | No |
TOPMed gnomAD |
|
rs1450377000 | 828 | M>V | No | gnomAD | |
rs747183114 | 829 | R>G | No |
ExAC gnomAD |
|
rs373766807 | 829 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs758382026 | 831 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1166393503 | 832 | G>R | No | gnomAD | |
rs1156776569 | 833 | A>T | No | gnomAD | |
rs748106972 | 834 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1369130811 | 835 | P>R | No | gnomAD | |
rs1367448908 | 835 | P>T | No |
TOPMed gnomAD |
|
rs1479781957 | 837 | R>C | No | Ensembl | |
rs1479781957 | 837 | R>G | No | Ensembl | |
rs778640625 | 837 | R>H | No |
ExAC TOPMed gnomAD |
|
rs778640625 | 837 | R>L | No |
ExAC TOPMed gnomAD |
|
rs1443309884 | 838 | V>M | No |
TOPMed gnomAD |
|
rs753372514 | 839 | V>L | No |
ExAC gnomAD |
|
rs753372514 | 839 | V>M | No |
ExAC gnomAD |
|
rs1459390704 | 840 | E>G | No | gnomAD | |
rs1302368508 | 840 | E>Q | No | TOPMed | |
rs1194880481 | 841 | D>A | No | gnomAD | |
rs532695204 | 841 | D>H | No |
1000Genomes gnomAD |
|
rs1194880481 | 841 | D>V | No | gnomAD | |
COSM3381532 COSM3381533 COSM3381534 rs1581337635 |
842 | D>E | pancreas [Cosmic] | No |
cosmic curated Ensembl |
rs1762352732 | 842 | D>N | No | Ensembl | |
rs779813008 | 843 | S>F | No |
ExAC TOPMed gnomAD |
|
rs1356370675 | 843 | S>P | No | gnomAD | |
rs1356370675 | 843 | S>T | No | gnomAD | |
rs779813008 | 843 | S>Y | No |
ExAC TOPMed gnomAD |
|
COSM4872273 rs565377483 COSM1154622 COSM1076342 |
844 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed |
rs1385343377 | 847 | S>T | No |
TOPMed gnomAD |
|
rs749992718 | 848 | S>G | No |
ExAC TOPMed gnomAD |
|
COSM3410807 COSM3410808 rs749992718 COSM3410806 |
848 | S>R | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1448656729 | 848 | S>T | No | gnomAD | |
rs764673066 | 850 | S>G | No |
ExAC TOPMed gnomAD |
|
rs1561988484 | 851 | G>R | No | Ensembl | |
rs1327019605 | 852 | S>C | No | gnomAD | |
rs940196144 | 853 | L>F | No |
TOPMed gnomAD |
|
rs940196144 | 853 | L>V | No |
TOPMed gnomAD |
|
TCGA novel | 854 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1391795171 | 855 | V>D | No | gnomAD | |
rs547042809 COSM3697694 COSM3697696 COSM3697695 |
856 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs201527270 | 857 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
rs201527270 | 857 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1159821821 | 858 | S>G | No | gnomAD | |
TCGA novel | 858 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs374346705 | 858 | S>N | No |
1000Genomes ExAC gnomAD |
|
rs771229208 | 859 | S>G | No |
ExAC gnomAD |
|
rs202026754 | 860 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs202026754 | 860 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1621235 COSM1621234 COSM1621233 rs778836721 |
862 | I>V | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM1596137 COSM1596138 COSM1076338 rs768322177 |
865 | R>* | endometrium [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs749172071 | 865 | R>L | No |
ExAC TOPMed gnomAD |
|
rs749172071 | 865 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1348202782 | 866 | V>F | No |
TOPMed gnomAD |
|
rs1348202782 | 866 | V>I | No |
TOPMed gnomAD |
|
rs755839052 | 870 | T>A | No |
ExAC gnomAD |
|
rs1762345642 | 870 | T>I | No | TOPMed | |
rs950024611 | 872 | R>Q | No |
TOPMed gnomAD |
|
rs780804691 | 872 | R>W | No |
ExAC TOPMed gnomAD |
|
rs749013206 | 873 | V>L | No |
ExAC gnomAD |
|
TCGA novel | 875 | I>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1278918131 | 877 | E>K | No |
TOPMed gnomAD |
|
rs1433031486 | 878 | A>T | No | gnomAD | |
rs1442452108 | 879 | T>A | No |
TOPMed gnomAD |
|
rs769503676 | 879 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs769503676 | 879 | T>R | No |
ExAC TOPMed gnomAD |
|
rs1408762555 | 883 | L>V | No | gnomAD | |
rs976895510 | 884 | N>H | No | Ensembl | |
rs1173861716 | 884 | N>S | No |
TOPMed gnomAD |
|
COSM1487493 COSM4815277 COSM450950 |
887 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1762298254 | 887 | N>H | No | Ensembl | |
rs1762297698 | 891 | C>R | No | Ensembl | |
rs1762296943 | 895 | F>L | No | TOPMed | |
rs1309539426 | 896 | W>R | No |
TOPMed gnomAD |
|
rs781002633 | 897 | D>G | No |
ExAC gnomAD |
|
rs756826675 | 898 | Q>R | No |
ExAC gnomAD |
|
rs202231672 | 899 | C>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755466789 | 900 | E>A | No |
ExAC gnomAD |
|
rs766700241 | 901 | S>C | No |
ExAC gnomAD |
|
rs756486869 | 902 | T>A | No |
ExAC TOPMed gnomAD |
|
rs532977529 | 902 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1449412775 | 905 | A>T | No | gnomAD | |
rs1452416193 | 906 | P>L | No |
TOPMed gnomAD |
|
rs1452416193 | 906 | P>Q | No |
TOPMed gnomAD |
|
rs1335134210 | 906 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1581334781 | 907 | V>G | No | Ensembl | |
rs1243640289 | 907 | V>L | No | gnomAD | |
rs1581334735 | 908 | V>G | No | Ensembl | |
rs541125345 | 908 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs905344128 | 909 | D>G | No | TOPMed | |
rs1762292529 | 909 | D>N | No | Ensembl | |
COSM3623095 COSM3623094 COSM3623093 rs770759632 |
911 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM3623092 COSM3623091 COSM3623090 |
912 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201026056 | 913 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1762291355 | 914 | S>L | No | TOPMed | |
rs777300692 | 915 | P>R | No |
ExAC gnomAD |
|
rs749746390 | 918 | K>R | No |
ExAC gnomAD |
|
rs1762290359 | 919 | D>G | No | Ensembl | |
COSM3623087 COSM3623089 COSM3623088 |
919 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1762290517 | 919 | D>N | No | TOPMed | |
rs1206895453 | 920 | A>T | No |
TOPMed gnomAD |
|
rs866985103 | 920 | A>V | No |
TOPMed gnomAD |
|
rs1762289305 | 921 | Q>R | No | TOPMed | |
rs1762288781 | 926 | F>I | No | Ensembl | |
TCGA novel rs1762288598 |
926 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1362180764 | 927 | S>F | No |
TOPMed gnomAD |
|
rs1316290150 | 927 | S>P | No | TOPMed | |
rs1362180764 | 927 | S>Y | No |
TOPMed gnomAD |
|
rs1762287614 | 928 | H>R | No | TOPMed | |
rs1245635512 | 930 | K>T | No | gnomAD | |
rs1762075727 | 931 | D>H | No | Ensembl | |
rs781496280 | 932 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1275096365 | 932 | Y>S | No | gnomAD | |
rs1406204595 | 933 | V>A | No |
TOPMed gnomAD |
|
rs1188385719 | 933 | V>M | No | TOPMed | |
rs1420216008 | 935 | N>K | No | gnomAD | |
rs566354052 | 935 | N>S | No |
1000Genomes ExAC gnomAD |
|
rs867482809 | 936 | V>L | No | gnomAD | |
COSM1596140 COSM1596139 COSM1076336 |
939 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs777912527 | 941 | L>R | No |
ExAC TOPMed gnomAD |
|
rs1191596184 | 947 | G>E | No |
TOPMed gnomAD |
|
rs548160058 | 950 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1266876591 | 950 | A>V | No |
TOPMed gnomAD |
|
rs1038175034 | 951 | I>V | No |
TOPMed gnomAD |
|
rs778797717 | 955 | G>D | No | Ensembl | |
rs1435803579 | 956 | H>R | No |
TOPMed gnomAD |
|
COSM3860644 COSM3860645 rs377225601 COSM3860643 |
957 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs759509689 | 957 | R>W | No |
ExAC TOPMed gnomAD |
|
rs371840880 | 958 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1263307875 | 960 | G>R | No | gnomAD | |
rs1762069717 | 961 | N>S | No | TOPMed | |
rs367717609 | 962 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
rs771660259 | 963 | S>I | No |
ExAC TOPMed gnomAD |
|
rs761363264 | 963 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1360581996 | 963 | S>R | No |
TOPMed gnomAD |
|
rs771660259 | 963 | S>T | No |
ExAC TOPMed gnomAD |
|
rs773800441 | 965 | I>L | No |
ExAC gnomAD |
|
rs1313154357 | 966 | W>* | No | gnomAD | |
rs1363961771 | 967 | E>G | No | gnomAD | |
rs1400123113 | 967 | E>K | No | gnomAD | |
rs746302478 | 968 | V>G | No |
ExAC gnomAD |
|
rs201596924 | 968 | V>I | No |
1000Genomes ExAC |
|
rs771310891 | 969 | D>E | No |
ExAC gnomAD |
|
rs1359528903 | 969 | D>H | No |
TOPMed gnomAD |
|
rs1359528903 | 969 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs200248913 | 970 | S>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM450948 COSM4812866 COSM1134256 |
972 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1421638722 | 975 | T>K | No |
TOPMed gnomAD |
|
rs1264427318 | 977 | T>A | No |
1000Genomes TOPMed gnomAD |
|
COSM3994739 COSM3994741 COSM3994740 |
977 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1264427318 | 977 | T>S | No |
1000Genomes TOPMed gnomAD |
|
rs779073192 | 979 | H>P | No |
ExAC gnomAD |
|
rs755122590 | 979 | H>Q | No |
ExAC gnomAD |
|
rs779073192 | 979 | H>R | No |
ExAC gnomAD |
|
rs753814401 | 981 | R>K | No |
ExAC gnomAD |
|
rs1761882989 | 983 | N>D | No | Ensembl | |
rs1486751512 | 984 | E>D | No |
TOPMed gnomAD |
|
rs768564251 | 986 | T>M | No |
ExAC TOPMed gnomAD |
|
rs1317110266 | 987 | R>* | No | gnomAD | |
rs1333688304 | 987 | R>* | No | gnomAD | |
rs1317110266 | 987 | R>G | No | gnomAD | |
rs779969750 | 987 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs755106049 | 988 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1267538316 | 989 | I>M | No |
TOPMed gnomAD |
|
rs749421370 | 991 | M>I | No |
ExAC TOPMed gnomAD |
|
rs780021482 | 992 | W>* | No |
ExAC TOPMed gnomAD |
|
rs780021482 | 992 | W>C | No |
ExAC TOPMed gnomAD |
|
rs1386350732 | 994 | S>C | No |
TOPMed gnomAD |
|
COSM3623086 COSM3623084 COSM3623085 |
994 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1761879754 COSM1329198 COSM1329199 |
995 | I>M | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1761879939 | 995 | I>V | No |
TOPMed gnomAD |
|
rs750404304 | 999 | N>S | No |
ExAC TOPMed gnomAD |
|
rs936651146 | 1000 | E>D | No |
TOPMed gnomAD |
|
COSM231071 rs1561980933 |
1001 | L>S | skin [Cosmic] | No |
cosmic curated Ensembl |
rs2150324267 | 1002 | G>* | No | Ensembl | |
rs1183055763 | 1003 | E>D | No | gnomAD | |
rs1385016290 | 1003 | E>G | No | gnomAD | |
rs902513906 | 1003 | E>K | No | Ensembl | |
rs902513906 | 1003 | E>Q | No | Ensembl | |
rs1761877957 | 1005 | A>V | No | TOPMed | |
TCGA novel | 1008 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2150324246 | 1008 | E>Q | No | 1000Genomes | |
rs751195710 | 1010 | H>Y | No |
ExAC gnomAD |
|
rs201793412 | 1014 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1490380826 | 1014 | D>N | No | gnomAD | |
rs201793412 | 1014 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1490380826 | 1014 | D>Y | No | gnomAD | |
rs1581946204 | 1016 | N>S | No |
TOPMed gnomAD |
|
rs1761875964 | 1018 | G>E | No |
TOPMed gnomAD |
|
rs1761875964 | 1018 | G>V | No |
TOPMed gnomAD |
|
rs1358716716 | 1020 | I>V | No | gnomAD | |
rs376231863 | 1024 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1363923270 | 1025 | Q>R | No |
TOPMed gnomAD |
|
COSM483717 COSM4857294 COSM1137480 |
1026 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758007445 | 1028 | S>P | No |
ExAC gnomAD |
|
rs1039150543 | 1029 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1447855174 | 1030 | R>G | No |
TOPMed gnomAD |
|
COSM3860641 COSM3860640 COSM3860642 |
1030 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1761854259 | 1033 | V>I | No |
TOPMed gnomAD |
|
rs373262206 | 1034 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1761853676 | 1035 | V>M | No |
TOPMed gnomAD |
|
rs1761853120 | 1039 | Q>K | No | Ensembl | |
rs1189716618 | 1040 | H>L | No | gnomAD | |
rs1761851778 | 1047 | M>T | No |
TOPMed gnomAD |
|
rs189201100 | 1048 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762249432 | 1051 | I>M | No |
ExAC gnomAD |
|
rs1336988363 | 1051 | I>T | No |
TOPMed gnomAD |
|
rs1296480722 | 1051 | I>V | No | TOPMed | |
rs774810280 | 1052 | L>Q | No |
ExAC gnomAD |
|
rs774810280 | 1052 | L>R | No |
ExAC gnomAD |
|
rs769171168 | 1053 | S>L | No |
ExAC gnomAD |
|
TCGA novel | 1054 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1761849878 | 1054 | V>L | No | TOPMed | |
rs1761849500 | 1055 | S>C | No | TOPMed | |
rs1265260343 | 1055 | S>T | No | gnomAD | |
rs763197579 | 1056 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1278632122 | 1057 | G>S | No |
TOPMed gnomAD |
|
rs769749811 | 1058 | C>W | No |
ExAC gnomAD |
|
rs746025544 | 1059 | V>G | No | ExAC | |
rs780960120 | 1061 | A>S | No | ExAC | |
rs1201762550 | 1064 | T>I | No | TOPMed | |
rs746982399 | 1065 | K>I | No |
ExAC gnomAD |
|
rs746982399 | 1065 | K>R | No |
ExAC gnomAD |
|
rs777480189 | 1067 | Q>K | No |
ExAC gnomAD |
|
rs758203518 | 1069 | G>E | No |
ExAC gnomAD |
|
rs1761846804 | 1069 | G>R | No | TOPMed | |
rs3734234 | 1070 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs3734234 | 1070 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1419629108 | 1071 | D>N | No | gnomAD | |
rs1481022523 | 1073 | Y>H | No | gnomAD | |
COSM268228 | 1074 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs777746220 | 1076 | D>A | No |
ExAC gnomAD |
|
rs746892812 | 1076 | D>N | No |
ExAC gnomAD |
|
COSM3777337 COSM3777338 |
1077 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1383146587 | 1077 | D>V | No | gnomAD | |
rs1181135084 | 1079 | D>G | No | gnomAD | |
rs1233716913 | 1082 | D>Y | No | gnomAD | |
rs748018940 | 1083 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1648263432 | 1083 | M>T | No | Ensembl | |
rs1761387101 | 1086 | Y>* | No | Ensembl | |
rs1761386668 | 1087 | Q>E | No | TOPMed | |
rs1274464108 | 1087 | Q>H | No | gnomAD | |
rs79653168 | 1088 | E>D | No | Ensembl | |
rs760811127 | 1088 | E>G | No |
ExAC gnomAD |
|
rs772049995 | 1089 | E>D | No |
ExAC TOPMed gnomAD |
|
rs773106750 | 1089 | E>G | No |
ExAC gnomAD |
|
TCGA novel | 1089 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1091 | L>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1092 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1160217254 | 1093 | C>Y | No |
TOPMed gnomAD |
|
COSM1076334 rs192133963 COSM1596141 COSM1596142 |
1094 | V>I | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs192133963 RCV000975103 |
1094 | V>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768338454 | 1096 | E>K | No |
ExAC gnomAD |
|
COSM4947499 COSM4947498 COSM86222 rs1761189899 |
1097 | R>T | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs748909909 | 1099 | S>L | No |
ExAC gnomAD |
|
rs1221703921 | 1100 | D>E | No | gnomAD | |
rs1761189517 | 1100 | D>G | No | Ensembl | |
rs1761189167 | 1101 | A>T | No | TOPMed | |
rs779906738 | 1101 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1761188810 | 1103 | I>V | No | TOPMed | |
rs755676744 | 1104 | K>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1105 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs745411489 | 1106 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1273519098 | 1107 | E>* | No |
TOPMed gnomAD |
|
rs1761187646 | 1110 | D>E | No | gnomAD | |
rs112367304 | 1111 | E>K | No | Ensembl | |
rs112367304 | 1111 | E>Q | No | Ensembl | |
rs1050210080 | 1113 | I>L | No | Ensembl | |
rs2150315577 | 1115 | K>R | No | Ensembl | |
rs1561972286 | 1116 | V>I | No | Ensembl | |
COSM1442389 COSM2856011 COSM2856008 COSM1442388 rs1346755993 COSM2856010 COSM2856009 |
1116 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs1455836418 | 1117 | S>G | No | gnomAD | |
rs753174132 | 1117 | S>I | No |
ExAC TOPMed gnomAD |
|
rs1561972250 | 1118 | N>K | No | Ensembl | |
TCGA novel | 1119 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765582187 | 1120 | T>I | No |
ExAC TOPMed gnomAD |
|
rs368765608 | 1121 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
rs1309161633 | 1124 | E>K | No |
TOPMed gnomAD |
|
rs1403988480 | 1125 | D>Y | No | TOPMed | |
rs780806668 | 1126 | D>H | No |
ExAC TOPMed gnomAD |
|
rs780806668 | 1126 | D>N | No |
ExAC TOPMed gnomAD |
|
rs2150312937 | 1127 | V>M | No | Ensembl | |
rs748676840 | 1128 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1012385455 | 1129 | R>Q | No | TOPMed | |
rs755339587 | 1131 | A>T | No |
ExAC TOPMed gnomAD |
|
COSM272864 | 1131 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1462585050 | 1134 | V>A | No | gnomAD | |
rs754253648 | 1135 | E>Q | No | ExAC | |
rs1581915430 | 1136 | Q>R | No | Ensembl | |
rs1386232775 | 1138 | V>A | No | gnomAD | |
rs1449184730 | 1138 | V>I | No | gnomAD | |
rs1449184730 | 1138 | V>L | No | gnomAD | |
rs1389775006 | 1139 | G>E | No |
TOPMed gnomAD |
|
TCGA novel | 1142 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1272301877 | 1150 | P>S | No | gnomAD | |
rs767573213 | 1151 | A>G | No |
ExAC gnomAD |
|
rs1204335649 | 1151 | A>T | No |
TOPMed gnomAD |
|
rs767573213 | 1151 | A>V | No |
ExAC gnomAD |
|
rs1760983640 | 1154 | S>G | No | TOPMed | |
rs751506792 | 1155 | G>R | No |
ExAC gnomAD |
|
rs1760983214 | 1159 | A>S | No |
TOPMed gnomAD |
|
COSM4786309 COSM1442387 COSM1442386 |
1162 | D>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1760982313 | 1162 | D>E | No | Ensembl | |
rs547479559 | 1162 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs547479559 | 1162 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1391973898 | 1163 | W>L | No | gnomAD | |
rs556247264 | 1164 | I>N | No |
1000Genomes ExAC gnomAD |
|
rs750627392 | 1166 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1326147197 | 1167 | P>L | No | gnomAD | |
TCGA novel | 1167 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1137479 COSM1137478 COSM4858279 |
1169 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1385384449 | 1169 | M>T | No | gnomAD | |
rs537497725 | 1171 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1760803187 | 1173 | I>M | No | TOPMed | |
rs1157711566 | 1173 | I>T | No | gnomAD | |
rs570438110 | 1173 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1196686610 | 1179 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1196686610 | 1179 | D>Y | No |
TOPMed gnomAD |
|
rs762942389 | 1182 | A>S | No |
ExAC gnomAD |
|
rs200192784 | 1182 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs886158517 | 1183 | D>A | No | Ensembl | |
rs1397069126 | 1183 | D>E | No | gnomAD | |
COSM3829724 COSM3829722 COSM3829723 |
1184 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765307051 | 1186 | S>C | No |
ExAC gnomAD |
|
COSM6173576 COSM6173577 COSM6173575 |
1187 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs377483649 | 1187 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs372713505 | 1188 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201386556 | 1190 | Q>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1760549018 | 1191 | L>I | No | Ensembl | |
rs760182991 | 1192 | V>L | No |
ExAC TOPMed gnomAD |
|
rs1373234653 | 1193 | G>S | No |
TOPMed gnomAD |
|
rs1185459475 | 1194 | P>L | No | gnomAD | |
COSM4695886 COSM4695885 COSM4695887 |
1195 | H>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1441922128 | 1195 | H>P | No | gnomAD | |
rs1441922128 | 1195 | H>R | No | gnomAD | |
rs1760547269 | 1197 | S>Y | No | TOPMed | |
rs1340752220 | 1198 | G>A | No |
TOPMed gnomAD |
|
rs1340752220 | 1198 | G>D | No |
TOPMed gnomAD |
|
rs1207908162 | 1198 | G>S | No |
TOPMed gnomAD |
|
rs1340752220 | 1198 | G>V | No |
TOPMed gnomAD |
|
TCGA novel | 1199 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1581901120 | 1199 | V>G | No | Ensembl | |
rs374802927 | 1199 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1581901107 | 1200 | N>T | No | Ensembl | |
rs746405854 | 1207 | H>D | No |
ExAC gnomAD |
|
rs776820595 | 1207 | H>L | No |
ExAC gnomAD |
|
rs988950601 | 1208 | G>C | No | gnomAD | |
rs956157720 | 1208 | G>V | No | gnomAD | |
rs771329476 | 1209 | S>N | No |
ExAC gnomAD |
|
rs2150307638 | 1212 | F>C | No | Ensembl | |
rs1406908946 | 1212 | F>L | No | gnomAD | |
COSM1487491 COSM450947 COSM4815345 |
1213 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758523339 | 1213 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs778208739 | 1213 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1303042403 | 1215 | P>A | No | TOPMed | |
rs1472628107 | 1215 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1218892982 | 1216 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1482345909 | 1217 | I>R | No | gnomAD | |
rs34296471 | 1217 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1251754428 | 1218 | K>Q | No | gnomAD | |
rs1485839101 | 1219 | H>R | No | TOPMed | |
rs1222717904 | 1220 | S>R | No | gnomAD | |
rs754834948 | 1221 | D>G | No |
ExAC TOPMed gnomAD |
|
rs753823485 | 1222 | D>N | No |
ExAC gnomAD |
|
rs780108694 | 1226 | A>S | No |
ExAC gnomAD |
|
rs780108694 | 1226 | A>T | No |
ExAC gnomAD |
|
rs559223242 | 1227 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1365459038 | 1228 | A>T | No | gnomAD | |
rs780983796 | 1231 | D>H | No |
ExAC gnomAD |
|
TCGA novel | 1232 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1596147 COSM1076326 rs1760502234 COSM1596148 |
1233 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs1455653081 | 1235 | H>P | No | gnomAD | |
rs1760501218 | 1239 | H>D | No | Ensembl | |
TCGA novel | 1241 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs200009476 | 1243 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1760500597 | 1245 | P>S | No |
TOPMed gnomAD |
|
rs1760500309 | 1246 | Q>R | No | Ensembl | |
rs762581033 | 1247 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1760499178 | 1248 | E>G | No | Ensembl | |
rs1760499369 | 1248 | E>K | No | TOPMed | |
rs754270600 | 1250 | I>M | No |
ExAC TOPMed gnomAD |
|
rs761108518 | 1253 | I>L | No |
ExAC gnomAD |
|
rs1425682608 | 1253 | I>M | No | Ensembl | |
rs773672086 | 1256 | T>A | No |
ExAC gnomAD |
|
rs1760497501 | 1256 | T>I | No | Ensembl | |
rs61729950 | 1257 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs61729950 | 1257 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774773858 | 1258 | V>I | No |
ExAC gnomAD |
|
rs768616701 | 1259 | Q>H | No |
ExAC gnomAD |
|
rs749422448 | 1261 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1581899438 | 1262 | H>P | No | Ensembl | |
COSM275726 | 1262 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1760496114 | 1262 | H>Y | No | Ensembl | |
rs779829915 | 1263 | P>L | No |
ExAC gnomAD |
|
rs2150307050 | 1265 | A>T | No | Ensembl | |
rs1295199486 | 1265 | A>V | No | gnomAD | |
rs780897761 | 1266 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1356232950 | 1266 | M>R | No |
TOPMed gnomAD |
|
rs1356232950 | 1266 | M>T | No |
TOPMed gnomAD |
|
rs879733612 | 1266 | M>V | No |
TOPMed gnomAD |
|
rs1760494080 | 1268 | L>F | No | TOPMed | |
rs555103615 | 1269 | V>I | No |
1000Genomes ExAC gnomAD |
|
rs370736619 | 1270 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
COSM1621227 COSM1621228 COSM1621229 rs1175994839 |
1271 | R>* | Variant assessed as Somatic; HIGH impact. liver [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs757826120 | 1273 | R>* | No |
ExAC gnomAD |
|
rs1187113656 | 1273 | R>L | No | gnomAD | |
rs1187113656 | 1273 | R>Q | No | gnomAD | |
rs1448485038 | 1274 | I>F | No | gnomAD | |
rs752203553 | 1275 | A>P | No |
ExAC TOPMed gnomAD |
|
rs752203553 | 1275 | A>S | No |
ExAC TOPMed gnomAD |
|
rs764686226 | 1276 | A>T | No |
ExAC gnomAD |
|
rs761198847 | 1277 | N>D | No |
ExAC TOPMed gnomAD |
|
rs750983159 | 1277 | N>S | No |
ExAC TOPMed gnomAD |
|
rs761198847 | 1277 | N>Y | No |
ExAC TOPMed gnomAD |
|
rs767983765 | 1279 | Y>C | No |
ExAC gnomAD |
|
rs1344313006 | 1280 | N>I | No |
TOPMed gnomAD |
|
COSM3697693 COSM3697692 rs751899598 COSM3697691 |
1285 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1581894076 | 1287 | S>R | No | Ensembl | |
rs763165837 | 1292 | I>L | No |
ExAC gnomAD |
|
rs763165837 | 1292 | I>V | No |
ExAC gnomAD |
|
TCGA novel | 1293 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1410543711 | 1293 | S>Y | No | gnomAD | |
rs775587225 | 1294 | L>V | No |
ExAC gnomAD |
|
rs1233703663 | 1297 | I>M | No | TOPMed | |
rs1037611621 | 1298 | F>S | No | Ensembl | |
TCGA novel | 1299 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759678854 | 1303 | V>L | No |
ExAC gnomAD |
|
rs776517852 | 1305 | Y>C | No |
ExAC gnomAD |
|
COSM3921115 COSM3921116 COSM3921117 |
1306 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1273040881 | 1307 | I>M | No |
TOPMed gnomAD |
|
rs1283345614 | 1307 | I>V | No | Ensembl | |
rs948560314 | 1309 | S>C | No | Ensembl | |
rs746980328 | 1310 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1367580203 | 1311 | I>V | No | gnomAD | |
TCGA novel | 1314 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs761557970 | 1317 | E>D | No |
ExAC gnomAD |
|
rs1748280803 | 1318 | I>V | No | TOPMed | |
rs1277150364 | 1319 | E>G | No | gnomAD | |
rs1346266279 | 1319 | E>K | No |
TOPMed gnomAD |
|
rs1346266279 | 1319 | E>Q | No |
TOPMed gnomAD |
|
rs748974986 | 1320 | D>E | No |
ExAC gnomAD |
|
rs2150303620 | 1320 | D>N | No | Ensembl | |
rs1019753708 | 1321 | R>Q | No | Ensembl | |
rs1760248796 | 1321 | R>W | No | TOPMed | |
rs769438850 | 1323 | T>M | No |
ExAC gnomAD |
|
rs769438850 | 1323 | T>R | No |
ExAC gnomAD |
|
TCGA novel | 1325 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774472191 | 1326 | L>F | No |
ExAC TOPMed gnomAD |
|
rs774472191 | 1326 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1760246979 | 1327 | L>M | No | TOPMed | |
TCGA novel | 1328 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1404185087 | 1333 | N>S | No | gnomAD | |
rs779282508 | 1334 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1300082220 | 1335 | G>D | No | TOPMed | |
rs987952505 | 1337 | S>A | No | gnomAD | |
rs1190314631 | 1339 | G>E | No | gnomAD | |
rs1760244649 | 1339 | G>R | No | TOPMed | |
rs545140596 | 1341 | T>A | No | 1000Genomes | |
rs766435113 | 1341 | T>M | No |
ExAC TOPMed gnomAD |
|
rs750346645 | 1342 | Y>C | No |
ExAC gnomAD |
|
rs1278410006 | 1343 | I>T | No | gnomAD | |
rs1760242039 | 1346 | Y>* | No | TOPMed | |
rs1347843766 | 1347 | T>A | No | gnomAD | |
rs1347843766 | 1347 | T>S | No | gnomAD | |
rs761835838 | 1347 | T>S | No |
ExAC TOPMed gnomAD |
|
rs774244288 | 1348 | R>* | No |
ExAC TOPMed gnomAD |
|
COSM1596151 COSM1596152 rs1339590903 COSM1076322 |
1348 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs762633563 | 1350 | V>L | No |
ExAC gnomAD |
|
rs762633563 | 1350 | V>M | No |
ExAC gnomAD |
|
rs769341668 | 1352 | Q>H | No |
ExAC gnomAD |
|
rs775338214 | 1352 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1248252707 | 1353 | V>M | No | TOPMed | |
rs1760239087 | 1355 | N>D | No | Ensembl | |
rs1448365880 | 1355 | N>I | No | TOPMed | |
rs1226851833 | 1356 | I>N | No | gnomAD | |
COSM261655 | 1357 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1760237394 | 1358 | S>G | No | Ensembl | |
rs772409670 | 1358 | S>N | No |
ExAC gnomAD |
|
rs1167569315 | 1359 | L>F | No | gnomAD | |
rs1473287463 | 1359 | L>P | No | gnomAD | |
rs748695121 | 1360 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM1442385 rs1322814372 COSM1442384 |
1361 | R>Q | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs1760236184 | 1361 | R>W | No |
1000Genomes gnomAD |
|
rs1207661849 | 1363 | R>Q | No | gnomAD | |
rs1253211513 | 1363 | R>W | No |
TOPMed gnomAD |
|
rs1760084844 | 1365 | A>T | No |
TOPMed gnomAD |
|
rs1275172590 COSM1311831 COSM4812447 COSM1311832 |
1366 | V>I | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs748642534 | 1367 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1760083659 | 1369 | K>* | No | gnomAD | |
rs774907074 | 1371 | A>G | No |
ExAC gnomAD |
|
TCGA novel | 1371 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1461179076 | 1374 | T>A | No |
TOPMed gnomAD |
|
COSM4811058 COSM1133767 COSM420971 |
1375 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1760082424 | 1375 | K>N | No | TOPMed | |
rs780492891 | 1377 | R>G | No |
ExAC TOPMed gnomAD |
|
rs756255302 | 1377 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs780492891 | 1377 | R>W | No |
ExAC TOPMed gnomAD |
|
rs746103151 | 1379 | I>V | No |
ExAC TOPMed gnomAD |
|
rs757413284 | 1380 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs372857233 | 1380 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1760079371 | 1382 | S>N | No | gnomAD | |
rs961422777 | 1384 | S>C | No | Ensembl | |
COSM4877763 rs961422777 COSM4877762 COSM4877761 |
1384 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs751536244 | 1384 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1269454988 | 1385 | T>I | No |
TOPMed gnomAD |
|
rs764164486 | 1385 | T>S | No |
ExAC gnomAD |
|
rs1316227376 | 1386 | P>L | No | gnomAD | |
rs752490875 | 1387 | N>D | No |
ExAC gnomAD |
|
TCGA novel | 1387 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs368584415 | 1388 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
rs1402813931 | 1388 | V>I | No | TOPMed | |
rs1044421319 | 1389 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1044421319 | 1389 | H>R | No | TOPMed | |
rs1391569000 | 1391 | V>D | No | gnomAD | |
rs753403109 | 1391 | V>F | No |
ExAC gnomAD |
|
rs753403109 | 1391 | V>I | No |
ExAC gnomAD |
|
rs756978744 | 1393 | S>F | No | Ensembl | |
rs900971113 | 1395 | R>* | No |
TOPMed gnomAD |
|
rs200901764 | 1395 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200833262 | 1396 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs200833262 | 1396 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs767024112 | 1397 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1162974804 | 1398 | L>V | No |
TOPMed gnomAD |
|
rs1759824492 | 1399 | S>F | No | TOPMed | |
rs763389412 | 1400 | G>D | No |
ExAC gnomAD |
|
rs1759824208 | 1400 | G>S | No | Ensembl | |
rs569146131 | 1401 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1402 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs886653773 | 1403 | E>D | No |
TOPMed gnomAD |
|
rs770047708 | 1404 | D>G | No |
ExAC gnomAD |
|
rs1307176389 | 1405 | D>V | No | gnomAD | |
rs1759678163 | 1408 | W>* | No | Ensembl | |
rs1332254381 | 1408 | W>R | No |
TOPMed gnomAD |
|
rs866549736 | 1409 | P>S | No | Ensembl | |
rs1433570518 | 1410 | E>D | No | gnomAD | |
rs771426174 | 1412 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs140293391 | 1413 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140293391 | 1413 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773637052 | 1414 | D>G | No |
ExAC gnomAD |
|
COSM3623081 COSM3623082 COSM3623083 |
1414 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
VAR_029389 rs17689215 |
1415 | M>V | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1259496367 | 1417 | D>E | No | gnomAD | |
rs768601692 | 1418 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs866918817 | 1418 | Y>H | No | gnomAD | |
rs2150295298 | 1420 | S>F | No | Ensembl | |
rs1261076233 | 1422 | Y>C | No |
TOPMed gnomAD |
|
rs1759674605 | 1423 | Q>H | No | Ensembl | |
rs779771179 | 1424 | D>V | No |
ExAC TOPMed gnomAD |
|
rs373092082 | 1426 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
rs755957437 | 1426 | A>S | No |
ExAC TOPMed gnomAD |
|
rs373092082 | 1426 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1581869106 | 1428 | Y>F | No | Ensembl | |
TCGA novel | 1429 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs751030387 | 1429 | G>R | No |
ExAC TOPMed gnomAD |
|
rs1759672489 | 1430 | T>I | No |
TOPMed gnomAD |
|
rs1759671841 | 1431 | L>F | No |
TOPMed gnomAD |
|
rs763542054 | 1431 | L>S | No |
ExAC TOPMed gnomAD |
|
rs755445981 | 1432 | P>R | No |
ExAC gnomAD |
|
COSM4813150 COSM1487490 COSM1487489 |
1433 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3860635 COSM3860636 COSM3860634 |
1433 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1452755139 | 1434 | D>G | No | gnomAD | |
rs754313942 | 1436 | P>S | No |
ExAC TOPMed gnomAD |
|
rs761162305 | 1437 | R>* | No |
ExAC gnomAD |
|
rs78281954 | 1437 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs78281954 | 1437 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1205057852 | 1439 | N>I | No | gnomAD | |
rs1047635332 | 1440 | K>E | No | Ensembl | |
rs1346376943 | 1441 | E>A | No | gnomAD | |
rs761975221 | 1442 | G>S | No |
ExAC gnomAD |
|
rs1357219791 | 1443 | C>Y | No |
TOPMed gnomAD |
|
rs1311012993 | 1444 | T>A | No | gnomAD | |
rs367994814 | 1447 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1448 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1313098182 | 1448 | P>L | No | gnomAD | |
rs762033876 | 1448 | P>S | No |
ExAC gnomAD |
|
rs1467194992 | 1449 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1330691192 | 1451 | L>V | No | gnomAD | |
rs569875205 | 1452 | T>A | No | 1000Genomes | |
rs372447677 | 1453 | V>F | No |
ExAC TOPMed gnomAD |
|
COSM1596153 COSM1596154 COSM1076317 rs372447677 |
1453 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1475583862 | 1454 | S>G | No |
TOPMed gnomAD |
|
rs775387752 | 1455 | P>H | No |
ExAC gnomAD |
|
rs775387752 | 1455 | P>R | No |
ExAC gnomAD |
|
rs769673178 | 1456 | F>L | No |
ExAC gnomAD |
|
rs1759537916 | 1456 | F>S | No | TOPMed | |
rs1475189598 | 1458 | A>V | No |
TOPMed gnomAD |
|
rs1759537212 | 1460 | S>A | No | TOPMed | |
rs182962682 | 1460 | S>C | No |
1000Genomes TOPMed gnomAD |
|
rs182962682 | 1460 | S>F | No |
1000Genomes TOPMed gnomAD |
|
rs1199398005 | 1461 | P>S | No |
TOPMed gnomAD |
|
rs1199398005 | 1461 | P>T | No |
TOPMed gnomAD |
|
rs1175300473 | 1464 | P>Q | No | gnomAD | |
rs776345807 | 1464 | P>S | No |
ExAC gnomAD |
|
rs1430301170 | 1465 | K>E | No |
TOPMed gnomAD |
|
rs770646228 | 1468 | K>Q | No |
ExAC gnomAD |
|
rs746659694 | 1469 | P>S | No |
ExAC gnomAD |
|
rs2150293010 | 1470 | L>P | No | Ensembl | |
rs201979416 | 1471 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs559728824 | 1473 | V>I | No |
1000Genomes TOPMed |
|
rs534596564 | 1476 | E>D | No |
ExAC gnomAD |
|
rs747611407 | 1477 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs778595043 | 1478 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1759532754 | 1483 | L>P | No | TOPMed | |
rs1447468499 | 1485 | A>E | No |
TOPMed gnomAD |
|
rs1447468499 | 1485 | A>V | No |
TOPMed gnomAD |
|
rs375333105 | 1486 | R>T | No |
ESP TOPMed gnomAD |
|
rs1281025424 | 1487 | P>H | No | gnomAD | |
rs1377517558 | 1487 | P>S | No |
TOPMed gnomAD |
|
COSM3623070 COSM3623071 COSM3623069 |
1488 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756620344 | 1488 | L>P | No |
ExAC gnomAD |
|
rs756620344 | 1488 | L>R | No |
ExAC gnomAD |
|
rs868522948 | 1490 | S>C | No | Ensembl | |
rs1759530842 | 1491 | Q>R | No | gnomAD | |
rs1051708893 | 1493 | S>G | No |
TOPMed gnomAD |
|
rs781594811 | 1495 | P>L | No |
ExAC TOPMed gnomAD |
|
rs757622676 | 1496 | P>L | No |
ExAC gnomAD |
|
rs751824702 | 1497 | P>L | No |
ExAC TOPMed gnomAD |
|
rs751824702 | 1497 | P>R | No |
ExAC TOPMed gnomAD |
|
COSM1311829 COSM1311830 rs1759465050 |
1498 | Q>E | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
rs1279484894 | 1498 | Q>R | No |
TOPMed gnomAD |
|
rs778234437 | 1499 | A>E | No |
ExAC TOPMed gnomAD |
|
rs778234437 | 1499 | A>V | No |
ExAC TOPMed gnomAD |
|
rs758551418 | 1500 | H>R | No |
ExAC gnomAD |
|
rs1362747960 | 1501 | N>K | No |
TOPMed gnomAD |
|
rs1581861580 | 1501 | N>T | No | Ensembl | |
rs765288895 | 1504 | C>F | No |
ExAC gnomAD |
|
rs766177992 | 1505 | I>T | No |
ExAC gnomAD |
|
rs753791221 | 1505 | I>V | No |
ExAC gnomAD |
|
rs537340041 | 1507 | P>A | No |
1000Genomes ExAC gnomAD |
|
rs537340041 | 1507 | P>S | No |
1000Genomes ExAC gnomAD |
|
rs756267833 | 1509 | G>E | No | Ensembl | |
rs1759461700 | 1509 | G>R | No | gnomAD | |
rs142518339 | 1510 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs772004378 | 1511 | N>K | No |
ExAC gnomAD |
|
rs1420999888 | 1513 | S>G | No |
TOPMed gnomAD |
|
rs776177971 | 1513 | S>N | No | Ensembl | |
rs1561950826 | 1514 | S>I | No |
TOPMed gnomAD |
|
rs1561950826 | 1514 | S>N | No |
TOPMed gnomAD |
|
rs868120397 | 1515 | M>I | No | TOPMed | |
rs761540530 | 1515 | M>V | No |
ExAC gnomAD |
|
rs1581861305 | 1516 | P>A | No | Ensembl | |
rs774209178 | 1517 | V>I | No |
ExAC gnomAD |
|
rs774209178 | 1517 | V>L | No |
ExAC gnomAD |
|
rs931897567 | 1519 | H>Y | No | TOPMed | |
rs768253903 | 1520 | N>S | No |
ExAC TOPMed gnomAD |
|
rs374548485 | 1521 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
COSM282219 rs989994318 |
1523 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs565980274 | 1523 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1581861147 | 1524 | E>K | No | Ensembl | |
rs777943369 | 1525 | K>N | No |
ExAC TOPMed gnomAD |
|
rs984023682 | 1526 | K>R | No |
TOPMed gnomAD |
|
rs1561950741 | 1527 | I>V | No | Ensembl | |
rs752024775 | 1528 | D>E | No |
ExAC gnomAD |
|
rs747459627 | 1528 | D>G | No |
ExAC gnomAD |
|
rs747459627 | 1528 | D>V | No |
ExAC gnomAD |
|
rs1296997380 | 1528 | D>Y | No | Ensembl | |
rs772395057 | 1530 | E>* | No |
ExAC TOPMed gnomAD |
|
rs772395057 | 1530 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs748462859 | 1532 | E>D | No |
ExAC gnomAD |
|
rs1758809178 | 1534 | N>S | No | TOPMed | |
rs1305323943 | 1535 | E>G | No |
TOPMed gnomAD |
|
rs897163028 | 1539 | I>V | No | Ensembl | |
rs779280594 | 1541 | R>K | No |
ExAC gnomAD |
|
COSM261654 | 1541 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1044961267 | 1542 | K>R | No |
TOPMed gnomAD |
|
rs1044961267 | 1542 | K>T | No |
TOPMed gnomAD |
|
rs1420668773 | 1543 | L>I | No | gnomAD | |
rs373629019 | 1544 | I>M | No |
ESP TOPMed gnomAD |
|
rs749536928 | 1544 | I>V | No |
ExAC gnomAD |
|
rs1208591821 | 1545 | S>T | No | TOPMed | |
TCGA novel | 1546 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1758806128 | 1547 | Q>L | No | Ensembl | |
rs1254178585 | 1548 | P>L | No | gnomAD | |
rs1265089488 | 1551 | P>A | No |
TOPMed gnomAD |
|
rs1265089488 | 1551 | P>S | No |
TOPMed gnomAD |
|
rs1265089488 | 1551 | P>T | No |
TOPMed gnomAD |
|
rs1480994008 | 1552 | V>M | No | gnomAD | |
rs1758804650 | 1553 | E>G | No | Ensembl | |
rs370868446 | 1553 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs370868446 | 1553 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1419066877 | 1557 | F>L | No | TOPMed | |
rs756281554 | 1557 | F>S | No |
ExAC TOPMed gnomAD |
|
rs1265381064 | 1561 | N>D | No | gnomAD | |
rs767615649 | 1561 | N>S | No |
ExAC TOPMed gnomAD |
|
rs757287995 | 1564 | L>S | No |
ExAC TOPMed gnomAD |
|
rs909114227 | 1565 | E>K | No | Ensembl | |
rs1172267769 | 1567 | R>S | No |
TOPMed gnomAD |
|
rs988030455 | 1568 | E>K | No |
TOPMed gnomAD |
|
rs991309411 | 1569 | W>* | No | Ensembl | |
rs1758799603 | 1570 | F>* | No |
TOPMed gnomAD |
|
rs751362648 | 1570 | F>V | No |
ExAC gnomAD |
|
TCGA novel | 1571 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1581840298 | 1572 | S>A | No | Ensembl | |
rs1758799066 | 1572 | S>F | No | Ensembl | |
rs1758798757 | 1574 | V>A | No | Ensembl | |
rs1758798473 | 1575 | D>N | No | Ensembl | |
rs1445557288 | 1576 | L>V | No | gnomAD | |
rs1371309973 | 1578 | N>D | No | gnomAD | |
rs1758796898 | 1580 | R>Q | No |
TOPMed gnomAD |
|
rs201753966 | 1580 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762457372 | 1581 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1442514320 | 1582 | L>S | No |
TOPMed gnomAD |
|
rs1455344325 | 1583 | E>K | No |
TOPMed gnomAD |
|
rs1758795941 | 1584 | K>E | No | TOPMed | |
rs775273707 | 1585 | E>A | No |
ExAC TOPMed gnomAD |
|
rs775273707 | 1585 | E>G | No |
ExAC TOPMed gnomAD |
|
rs530891053 | 1586 | V>A | No |
1000Genomes ExAC gnomAD |
|
rs759127355 | 1586 | V>M | No |
ExAC TOPMed gnomAD |
|
rs377613904 | 1588 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
COSM4942710 rs184686655 COSM4942711 COSM4942709 |
1588 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1485000035 | 1589 | S>N | No | Ensembl | |
rs1487166736 | 1591 | T>I | No |
TOPMed gnomAD |
|
rs1758793480 | 1592 | T>I | No | TOPMed | |
rs967495966 | 1593 | S>I | No | Ensembl | |
rs780359848 | 1598 | G>D | No |
ExAC TOPMed gnomAD |
|
rs780359848 | 1598 | G>V | No |
ExAC TOPMed gnomAD |
|
rs745897585 | 1599 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs12211658 VAR_049699 |
1600 | F>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1758792125 | 1600 | F>V | No | Ensembl | |
rs757196364 | 1601 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1758791662 | 1601 | S>P | No | Ensembl | |
rs758282538 | 1602 | H>L | No |
ExAC gnomAD |
|
rs758282538 | 1602 | H>P | No |
ExAC gnomAD |
|
rs752260591 | 1602 | H>Q | No | ExAC | |
rs1758790451 | 1603 | S>R | No | gnomAD | |
rs1297281131 | 1606 | N>H | No |
TOPMed gnomAD |
|
rs369581592 | 1606 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1758789485 | 1608 | T>A | No |
TOPMed gnomAD |
|
rs201648357 | 1608 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
rs765885011 | 1609 | L>M | No |
ExAC gnomAD |
|
rs765885011 | 1609 | L>V | No |
ExAC gnomAD |
|
rs1343761626 | 1612 | M>L | No |
TOPMed gnomAD |
|
rs768868179 | 1612 | M>R | No |
ExAC TOPMed gnomAD |
|
rs768868179 | 1612 | M>T | No |
ExAC TOPMed gnomAD |
|
rs891298408 | 1613 | V>A | No | Ensembl | |
rs763420555 | 1613 | V>L | No |
ExAC gnomAD |
|
rs1581839759 | 1614 | V>G | No | Ensembl | |
rs1282997735 | 1615 | P>T | No | gnomAD | |
COSM6173579 COSM6173580 COSM6173578 |
1616 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1343879993 | 1617 | S>C | No |
TOPMed gnomAD |
|
rs770021543 | 1617 | S>R | No |
ExAC gnomAD |
|
rs1343879993 | 1617 | S>R | No |
TOPMed gnomAD |
|
rs1758785253 | 1619 | S>N | No | gnomAD | |
rs1758785069 | 1620 | S>* | No | TOPMed | |
TCGA novel | 1620 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs41267712 RCV000885252 |
1621 | D>E | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1228979076 | 1621 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1277467697 | 1622 | Q>* | No | gnomAD | |
rs1277467697 | 1622 | Q>E | No | gnomAD | |
rs781366500 | 1623 | L>P | No |
ExAC gnomAD |
|
rs1281928299 | 1624 | A>V | No | TOPMed | |
rs771194983 | 1625 | I>V | No |
ExAC gnomAD |
|
rs1310895032 | 1626 | Q>H | No |
TOPMed gnomAD |
|
rs541281370 | 1627 | T>M | No |
1000Genomes ExAC gnomAD |
|
rs541281370 | 1627 | T>R | No |
1000Genomes ExAC gnomAD |
|
rs1758782431 | 1628 | K>E | No |
TOPMed gnomAD |
|
rs1758781781 | 1631 | D>H | No | Ensembl | |
rs1440441635 | 1632 | S>F | No | gnomAD | |
rs1476442640 | 1633 | T>I | No | gnomAD | |
rs1476442640 | 1633 | T>N | No | gnomAD | |
rs1406256146 | 1634 | E>D | No | TOPMed | |
rs754599022 | 1634 | E>G | No |
ExAC TOPMed gnomAD |
|
rs778577385 | 1634 | E>K | No |
ExAC gnomAD |
|
rs1260024724 | 1635 | H>D | No |
TOPMed gnomAD |
|
rs1260024724 | 1635 | H>Y | No |
TOPMed gnomAD |
|
rs543574521 | 1636 | S>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs543574521 | 1636 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs760216131 | 1638 | P>L | No |
ExAC TOPMed gnomAD |
|
COSM1596156 COSM1076315 COSM1596155 rs1273285610 |
1639 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs764608480 | 1640 | L>F | No | ExAC | |
rs199734807 | 1640 | L>P | No |
1000Genomes ExAC gnomAD |
|
rs1256909832 | 1642 | H>P | No |
TOPMed gnomAD |
|
TCGA novel | 1644 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1645 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765535914 | 1646 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1291170687 | 1647 | S>F | No | gnomAD | |
rs1239283315 | 1648 | S>L | No | gnomAD | |
rs201057801 | 1649 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs771105332 | 1650 | K>E | No |
ExAC TOPMed gnomAD |
|
rs1329780094 | 1650 | K>T | No |
TOPMed gnomAD |
|
rs1208245848 | 1651 | E>A | No |
TOPMed gnomAD |
|
rs747135197 | 1653 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1758774990 | 1654 | E>K | No | Ensembl | |
rs1204445362 | 1655 | V>I | No |
TOPMed gnomAD |
|
rs1758773996 | 1656 | E>G | No | Ensembl | |
rs41267710 | 1656 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1758773996 | 1656 | E>V | No | Ensembl | |
rs1161765004 | 1657 | K>Q | No |
TOPMed gnomAD |
|
rs374013859 | 1658 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs374013859 | 1658 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs374013859 | 1658 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1183493987 | 1661 | K>T | No | gnomAD | |
rs777530318 | 1662 | D>G | No | Ensembl | |
rs1474040160 | 1663 | K>Q | No |
TOPMed gnomAD |
|
rs1169239313 | 1664 | I>L | No | TOPMed | |
rs1758771826 | 1664 | I>M | No | TOPMed | |
rs1758771376 | 1667 | V>M | No | TOPMed | |
rs1758770970 | 1668 | P>L | No | Ensembl | |
COSM3860631 COSM3860632 COSM3860633 rs1384933070 |
1669 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs910852221 | 1670 | K>R | No | Ensembl | |
rs985719006 | 1673 | S>N | No | gnomAD | |
rs1326835041 | 1673 | S>R | No | TOPMed | |
rs1758769358 | 1673 | S>R | No | TOPMed | |
rs985719006 | 1673 | S>T | No | gnomAD | |
TCGA novel | 1674 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs755781422 | 1676 | A>P | No |
ExAC TOPMed gnomAD |
|
rs755781422 | 1676 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1312082314 | 1676 | A>V | No | TOPMed | |
TCGA novel | 1678 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3860628 COSM3860630 COSM3860629 |
1679 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1281111784 | 1680 | P>A | No | gnomAD | |
COSM3393988 COSM3393989 COSM3393987 rs374088011 |
1680 | P>L | pancreas [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs567547421 | 1682 | S>C | No |
1000Genomes TOPMed gnomAD |
|
rs567547421 | 1682 | S>F | No |
1000Genomes TOPMed gnomAD |
|
rs867394754 | 1684 | S>G | No | gnomAD | |
rs1441751005 | 1685 | I>F | No | gnomAD | |
rs753204968 | 1686 | P>L | No |
ExAC gnomAD |
|
rs1758766056 | 1688 | K>E | No | Ensembl | |
rs1437391549 | 1691 | K>R | No |
TOPMed gnomAD |
|
rs1437391549 | 1691 | K>T | No |
TOPMed gnomAD |
|
rs1273167863 | 1693 | L>P | No |
TOPMed gnomAD |
|
rs766660123 | 1697 | G>D | No |
ExAC TOPMed gnomAD |
|
rs766660123 | 1697 | G>V | No |
ExAC TOPMed gnomAD |
|
rs773284985 | 1698 | S>L | No |
ExAC gnomAD |
|
TCGA novel | 1698 | S>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1286029834 | 1699 | C>R | No |
TOPMed gnomAD |
|
rs772099608 | 1700 | S>L | No |
ExAC gnomAD |
|
COSM1650574 COSM595297 COSM1144118 |
1701 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1308784030 | 1703 | D>G | No |
TOPMed gnomAD |
|
rs1758762008 | 1703 | D>H | No | TOPMed | |
rs1758761358 | 1704 | A>T | No | Ensembl | |
rs774191820 | 1705 | C>R | No |
ExAC TOPMed |
|
rs1758760702 | 1705 | C>Y | No | TOPMed | |
rs1235384224 | 1706 | P>H | No | gnomAD | |
rs1758760394 | 1706 | P>T | No | Ensembl | |
TCGA novel | 1707 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1378782668 | 1709 | I>M | No | gnomAD | |
rs1291909729 | 1710 | S>I | No |
TOPMed gnomAD |
|
rs1291909729 | 1710 | S>N | No |
TOPMed gnomAD |
|
rs749029069 | 1710 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1758758538 | 1714 | R>T | No | TOPMed | |
rs2150281432 | 1715 | G>* | No | Ensembl | |
rs755699796 | 1717 | C>R | No |
ExAC gnomAD |
|
rs1758756946 | 1718 | P>R | No | Ensembl | |
rs780742333 | 1722 | T>K | No |
ExAC TOPMed gnomAD |
|
rs780742333 | 1722 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1758756045 | 1723 | V>L | No | gnomAD | |
rs1758755619 | 1724 | E>D | No | gnomAD | |
rs1758755820 | 1724 | E>K | No |
TOPMed gnomAD |
|
TCGA novel | 1725 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs369011113 | 1727 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
rs199705906 | 1727 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs766863284 | 1728 | N>D | No |
ExAC TOPMed gnomAD |
|
rs1758754529 | 1728 | N>T | No | TOPMed | |
rs1373396594 | 1729 | I>S | No | Ensembl | |
rs1214430412 | 1731 | E>G | No |
TOPMed gnomAD |
|
rs2150281375 | 1731 | E>Q | No | Ensembl | |
rs1487835075 | 1732 | D>A | No | gnomAD | |
rs1487835075 | 1732 | D>G | No | gnomAD | |
rs750676792 | 1734 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs761844305 | 1735 | F>L | No |
ExAC gnomAD |
|
rs1216931794 | 1736 | T>A | No |
TOPMed gnomAD |
|
TCGA novel | 1736 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774507101 | 1737 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1489030576 | 1740 | G>A | No |
TOPMed gnomAD |
|
rs1023461761 | 1740 | G>R | No |
TOPMed gnomAD |
|
rs575520875 | 1741 | V>L | No |
TOPMed gnomAD |
|
rs575520875 | 1741 | V>M | No |
TOPMed gnomAD |
|
rs189438984 | 1742 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1327225774 | 1742 | S>P | No | TOPMed | |
TCGA novel | 1743 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1436146284 | 1746 | D>N | No | gnomAD | |
rs1436146284 | 1746 | D>Y | No | gnomAD | |
TCGA novel | 1747 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs200658625 | 1747 | F>Y | No | Ensembl | |
rs867622242 | 1749 | G>A | No | TOPMed | |
rs867622242 | 1749 | G>D | No | TOPMed | |
rs375235800 | 1749 | G>S | No | ESP | |
rs745533373 | 1751 | T>A | No |
ExAC gnomAD |
|
rs371892687 | 1751 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
COSM3860623 COSM3860624 COSM3860622 |
1752 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150281280 | 1753 | S>Y | No | Ensembl | |
rs2150281275 | 1754 | S>A | No | Ensembl | |
rs746457444 | 1756 | G>A | No |
ExAC gnomAD |
|
rs746457444 | 1756 | G>E | No |
ExAC gnomAD |
|
rs200385751 | 1757 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
rs777457626 | 1757 | E>G | No |
ExAC gnomAD |
|
TCGA novel | 1757 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs890421022 | 1759 | S>C | No | TOPMed | |
rs1189836947 | 1760 | S>I | No | gnomAD | |
rs1484320249 | 1762 | R>K | No | gnomAD | |
rs1254500237 | 1762 | R>S | No | gnomAD | |
rs1209753964 | 1763 | S>R | No | gnomAD | |
rs374594635 | 1765 | P>A | No |
ESP TOPMed |
|
rs201854187 | 1765 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201854187 | 1765 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756474302 | 1767 | K>N | No |
ExAC gnomAD |
|
rs750632162 | 1769 | G>C | No |
ExAC gnomAD |
|
rs750632162 | 1769 | G>S | No |
ExAC gnomAD |
|
rs73721713 | 1770 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764175933 | 1771 | K>N | No |
ExAC gnomAD |
|
rs762867292 | 1772 | T>A | No |
ExAC gnomAD |
|
rs762867292 | 1772 | T>S | No |
ExAC gnomAD |
|
rs1193004215 | 1773 | V>L | No | gnomAD | |
rs370748706 | 1775 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
rs370748706 | 1775 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1758742043 | 1775 | D>V | No |
TOPMed gnomAD |
|
rs1455199739 | 1776 | G>E | No |
TOPMed gnomAD |
|
rs1418489603 | 1776 | G>R | No | gnomAD | |
COSM6106247 COSM6106248 COSM6106246 |
1778 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1758741213 | 1778 | H>R | No | TOPMed | |
rs1758740791 | 1779 | H>R | No | TOPMed | |
rs1045600266 | 1780 | P>L | No |
TOPMed gnomAD |
|
rs1758740545 | 1780 | P>S | No |
TOPMed gnomAD |
|
rs1758740545 | 1780 | P>T | No |
TOPMed gnomAD |
|
rs759299890 | 1781 | S>N | No |
ExAC gnomAD |
|
rs1318722581 | 1782 | Q>H | No | gnomAD | |
rs1400367407 | 1782 | Q>R | No | TOPMed | |
rs770452075 | 1785 | S>F | No |
ExAC gnomAD |
|
rs1481110315 | 1785 | S>P | No |
TOPMed gnomAD |
|
rs777406906 | 1787 | L>S | No |
ExAC gnomAD |
|
rs746679833 | 1787 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1303395967 | 1788 | E>* | No |
TOPMed gnomAD |
|
rs200447171 | 1788 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
rs1320255937 | 1791 | Q>P | No |
TOPMed gnomAD |
|
rs1320255937 | 1791 | Q>R | No |
TOPMed gnomAD |
|
rs1758736901 | 1793 | I>M | No | gnomAD | |
rs749780350 | 1793 | I>V | No |
ExAC gnomAD |
|
rs1241749514 | 1795 | P>T | No | TOPMed | |
rs2150281042 | 1796 | E>D | No | Ensembl | |
rs780755258 | 1797 | A>T | No | ExAC | |
rs938940904 | 1797 | A>V | No |
TOPMed gnomAD |
|
rs1758735631 | 1798 | A>P | No | Ensembl | |
COSM4925802 COSM4925803 |
1798 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1445418822 | 1798 | A>V | No | gnomAD | |
rs202230300 | 1800 | W>* | No |
ExAC gnomAD |
|
rs750709636 | 1800 | W>* | No |
ExAC gnomAD |
|
rs1758734716 | 1801 | V>F | No | TOPMed | |
rs1758734716 | 1801 | V>I | No | TOPMed | |
rs370967470 | 1802 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
rs1212497603 | 1803 | C>Y | No |
TOPMed gnomAD |
|
COSM3928245 COSM3928244 |
1805 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
No associated diseases with Q9H1H9
8 regional properties for Q9H1H9
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Zinc finger, RING-type | 138 - 189 | IPR001841-1 |
domain | Zinc finger, RING-type | 299 - 339 | IPR001841-2 |
domain | IBR domain | 207 - 269 | IPR002867-1 |
domain | IBR domain | 277 - 339 | IPR002867-2 |
domain | TRIAD supradomain | 134 - 343 | IPR044066 |
domain | Ariadne domain | 352 - 469 | IPR045840 |
domain | E3 ubiquitin-protein ligase ARIH2, BRcat domain | 216 - 287 | IPR047555 |
domain | E3 ubiquitin-protein ligase TRIAD1, Rcat domain | 291 - 346 | IPR047556 |
Functions
9 GO annotations of cellular component
Name | Definition |
---|---|
centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
endosome membrane | The lipid bilayer surrounding an endosome. |
Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
4 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATP hydrolysis activity | Catalysis of the reaction |
microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
11 GO annotations of biological process
Name | Definition |
---|---|
cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
cytoskeleton-dependent intracellular transport | The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. |
endosome to lysosome transport | The directed movement of substances from endosomes to lysosomes. |
Golgi to plasma membrane protein transport | The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. |
intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
melanosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
plus-end-directed vesicle transport along microtubule | The directed movement of a vesicle towards the plus end of a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. |
regulation of cytokinesis | Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells. |
spindle assembly | The aggregation, arrangement and bonding together of a set of components to form the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart. |
vesicle cargo loading | The formation of a macromolecular complex between the coat proteins and proteins and/or lipoproteins that are going to be transported by a vesicle. |
13 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P33176 | KIF5B | Kinesin-1 heavy chain | Homo sapiens (Human) | EV |
O60282 | KIF5C | Kinesin heavy chain isoform 5C | Homo sapiens (Human) | EV |
Q12840 | KIF5A | Kinesin heavy chain isoform 5A | Homo sapiens (Human) | EV |
Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
Q9P2E2 | KIF17 | Kinesin-like protein KIF17 | Homo sapiens (Human) | EV |
O00139 | KIF2A | Kinesin-like protein KIF2A | Homo sapiens (Human) | PR |
Q9NQT8 | KIF13B | Kinesin-like protein KIF13B | Homo sapiens (Human) | EV |
O43896 | KIF1C | Kinesin-like protein KIF1C | Homo sapiens (Human) | SS |
Q9EQW7 | Kif13a | Kinesin-like protein KIF13A | Mus musculus (Mouse) | SS |
Q70AM4 | Kif13b | Kinesin 13B | Rattus norvegicus (Rat) | EV |
10 | 20 | 30 | 40 | 50 | 60 |
MSDTKVKVAV | RVRPMNRREL | ELNTKCVVEM | EGNQTVLHPP | PSNTKQGERK | PPKVFAFDYC |
70 | 80 | 90 | 100 | 110 | 120 |
FWSMDESNTT | KYAGQEVVFK | CLGEGILEKA | FQGYNACIFA | YGQTGSGKSF | SMMGHAEQLG |
130 | 140 | 150 | 160 | 170 | 180 |
LIPRLCCALF | KRISLEQNES | QTFKVEVSYM | EIYNEKVRDL | LDPKGSRQSL | KVREHKVLGP |
190 | 200 | 210 | 220 | 230 | 240 |
YVDGLSQLAV | TSFEDIESLM | SEGNKSRTVA | ATNMNEESSR | SHAVFNIIIT | QTLYDLQSGN |
250 | 260 | 270 | 280 | 290 | 300 |
SGEKVSKVSL | VDLAGSERVS | KTGAAGERLK | EGSNINKSLT | TLGLVISSLA | DQAAGKGKSK |
310 | 320 | 330 | 340 | 350 | 360 |
FVPYRDSVLT | WLLKDNLGGN | SQTSMIATIS | PAADNYEETL | STLRYADRAK | RIVNHAVVNE |
370 | 380 | 390 | 400 | 410 | 420 |
DPNAKVIREL | REEVEKLREQ | LSQAEAMKAP | ELKEKLEESE | KLIKELTVTW | EEKLRKTEEI |
430 | 440 | 450 | 460 | 470 | 480 |
AQERQRQLES | MGISLEMSGI | KVGDDKCYLV | NLNADPALNE | LLVYYLKDHT | RVGADTSQDI |
490 | 500 | 510 | 520 | 530 | 540 |
QLFGIGIQPQ | HCEIDIASDG | DVTLTPKENA | RSCVNGTLVC | STTQLWHGDR | ILWGNNHFFR |
550 | 560 | 570 | 580 | 590 | 600 |
INLPKRKRRD | WLKDFEKETG | PPEHDLDAAS | EASSEPDYNY | EFAQMEVIMK | TLNSNDPVQN |
610 | 620 | 630 | 640 | 650 | 660 |
VVQVLEKQYL | EEKRSALEEQ | RLMYERELEQ | LRQQLSPDRQ | PQSSGPDRLA | YSSQTAQQKV |
670 | 680 | 690 | 700 | 710 | 720 |
TQWAEERDEL | FRQSLAKLRE | QLVKANTLVR | EANFLAEEMS | KLTDYQVTLQ | IPAANLSANR |
730 | 740 | 750 | 760 | 770 | 780 |
KRGAIVSEPA | IQVRRKGKST | QVWTIEKLEN | KLIDMRDLYQ | EWKEKVPEAK | RLYGKRGDPF |
790 | 800 | 810 | 820 | 830 | 840 |
YEAQENHNLI | GVANVFLECL | FCDVKLQYAV | PIISQQGEVA | GRLHVEVMRV | TGAVPERVVE |
850 | 860 | 870 | 880 | 890 | 900 |
DDSSENSSES | GSLEVVDSSG | EIIHRVKKLT | CRVKIKEATG | LPLNLSNFVF | CQYTFWDQCE |
910 | 920 | 930 | 940 | 950 | 960 |
STVAAPVVDP | EVPSPQSKDA | QYTVTFSHCK | DYVVNVTEEF | LEFISDGALA | IEVWGHRCAG |
970 | 980 | 990 | 1000 | 1010 | 1020 |
NGSSIWEVDS | LHAKTRTLHD | RWNEVTRRIE | MWISILELNE | LGEYAAVELH | QAKDVNTGGI |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
FQLRQGHSRR | VQVTVKPVQH | SGTLPLMVEA | ILSVSIGCVT | ARSTKLQRGL | DSYQRDDEDG |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
DDMDSYQEED | LNCVRERWSD | ALIKRREYLD | EQIKKVSNKT | EKTEDDVERE | AQLVEQWVGL |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
TEERNAVLVP | APGSGIPGAP | ADWIPPPGME | THIPVLFLDL | NADDLSANEQ | LVGPHASGVN |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
SILPKEHGSQ | FFYLPIIKHS | DDEVSATASW | DSSVHDSVHL | NRVTPQNERI | YLIVKTTVQL |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
SHPAAMELVL | RKRIAANIYN | KQSFTQSLKR | RISLKNIFYS | CGVTYEIVSN | IPKATEEIED |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
RETLALLAAR | SENEGTSDGE | TYIEKYTRGV | LQVENILSLE | RLRQAVTVKE | ALSTKARHIR |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
RSLSTPNVHN | VSSSRPDLSG | FDEDDKGWPE | NQLDMSDYSS | SYQDVACYGT | LPRDSPRRNK |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
EGCTSETPHA | LTVSPFKAFS | PQPPKFFKPL | MPVKEEHKKR | IALEARPLLS | QESMPPPQAH |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
NPGCIVPSGS | NGSSMPVEHN | SKREKKIDSE | EEENELEAIN | RKLISSQPYV | PVEFADFSVY |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
NASLENREWF | SSKVDLSNSR | VLEKEVSRSP | TTSSITSGYF | SHSASNATLS | DMVVPSSDSS |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
DQLAIQTKDA | DSTEHSTPSL | VHDFRPSSNK | ELTEVEKGLV | KDKIIVVPLK | ENSALAKGSP |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
SSQSIPEKNS | KSLCRTGSCS | ELDACPSKIS | QPARGFCPRE | VTVEHTTNIL | EDHSFTEFMG |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
VSEGKDFDGL | TDSSAGELSS | RRSLPNKTGG | KTVSDGLHHP | SQLHSKLEND | QVIIPEAAFW |
VLCCQ |