O60229
Gene name |
KALRN (DUET, DUO, HAPIP, TRAD) |
Protein name |
Kalirin |
Names |
EC 2.7.11.1 , Huntingtin-associated protein-interacting protein , Protein Duo , Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8997 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
1924-2115 (DH domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
2823-2845 (Activation loop from InterPro)
Target domain |
2684-2938 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Rojas RJ et al. (2007) "Galphaq directly activates p63RhoGEF and Trio via a conserved extension of the Dbl homology-associated pleckstrin homology domain", The Journal of biological chemistry, 282, 29201-10
- Lutz S et al. (2007) "Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs", Science (New York, N.Y.), 318, 1923-7
Autoinhibited structure

Activated structure

13 structures for O60229
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
5QQD | X-ray | 191 A | B | 1280-1459 | PDB |
5QQE | X-ray | 195 A | B | 1280-1459 | PDB |
5QQF | X-ray | 226 A | B | 1280-1459 | PDB |
5QQG | X-ray | 223 A | B | 1280-1459 | PDB |
5QQH | X-ray | 209 A | B | 1280-1459 | PDB |
5QQI | X-ray | 208 A | B | 1280-1459 | PDB |
5QQJ | X-ray | 190 A | B | 1280-1459 | PDB |
5QQK | X-ray | 224 A | B | 1280-1459 | PDB |
5QQL | X-ray | 225 A | B | 1280-1459 | PDB |
5QQM | X-ray | 202 A | B | 1280-1459 | PDB |
5QQN | X-ray | 226 A | B | 1280-1459 | PDB |
5QU9 | X-ray | 200 A | B | 1280-1459 | PDB |
8C7D | X-ray | 186 A | A | 1916-2114 | PDB |
2672 variants for O60229
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
COSM1037456 COSM1037454 RCV001262907 rs145790621 |
724 | S>L | endometrium Coronary heart disease, susceptibility to, 5 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1242888757 | 2 | T>M | No | gnomAD | |
rs774343717 | 3 | D>G | No |
ExAC gnomAD |
|
rs1162252325 | 4 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1162252325 | 4 | R>G | No |
TOPMed gnomAD |
|
rs1200030011 | 4 | R>H | No |
TOPMed gnomAD |
|
rs767942900 | 6 | W>R | No | Ensembl | |
rs1369842479 | 6 | W>S | No | gnomAD | |
rs1577991471 | 7 | D>G | No | Ensembl | |
rs2061334555 | 7 | D>N | No | Ensembl | |
rs2149384118 | 8 | Q>E | No | Ensembl | |
rs761715314 | 8 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1428228013 | 8 | Q>R | No | Ensembl | |
rs1211194969 | 9 | W>* | No | Ensembl | |
rs2061335415 | 10 | Y>H | No | gnomAD | |
rs1465719025 | 11 | L>F | No |
TOPMed gnomAD |
|
rs1465719025 | 11 | L>V | No |
TOPMed gnomAD |
|
rs1005426222 | 12 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs2061336006 | 13 | Y>C | No | Ensembl | |
rs767031719 | 15 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1306357826 | 18 | R>Q | No | gnomAD | |
rs375111358 | 18 | R>W | No |
ESP gnomAD |
|
rs1467089799 | 19 | L>Q | No | gnomAD | |
rs1381756344 | 20 | L>P | No | gnomAD | |
COSM3391998 COSM3391999 |
22 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs753159455 | 22 | R>L | No |
ExAC gnomAD |
|
rs753159455 | 22 | R>Q | No |
ExAC gnomAD |
|
rs1259546679 | 23 | G>R | No |
TOPMed gnomAD |
|
rs1560290554 | 24 | S>A | No | gnomAD | |
rs780167418 | 24 | S>C | No |
ExAC TOPMed gnomAD |
|
COSM1037401 COSM1037399 |
24 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3846051 COSM3846050 |
25 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754069791 COSM4112935 COSM4112936 |
26 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM3586549 COSM3586550 |
26 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs992756679 | 27 | N>S | No | Ensembl | |
rs1279597047 | 29 | G>D | No | gnomAD | |
rs755195866 | 29 | G>R | No |
ExAC gnomAD |
|
rs779217003 | 31 | K>E | No |
ExAC gnomAD |
|
rs2078761471 | 32 | A>T | No | TOPMed | |
rs992794173 | 35 | V>I | No | TOPMed | |
rs769492450 | 37 | P>R | No | Ensembl | |
rs777847805 | 38 | I>V | No |
ExAC TOPMed gnomAD |
|
COSM3586552 COSM3586551 |
41 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2078762952 | 41 | E>Q | No | TOPMed | |
rs1043150761 | 44 | A>V | No |
TOPMed gnomAD |
|
rs926123706 | 46 | V>L | No |
TOPMed gnomAD |
|
rs926123706 | 46 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs2079561892 | 49 | G>S | No | Ensembl | |
COSM5525117 COSM5525116 |
50 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs530848505 | 50 | R>H | No | Ensembl | |
rs1411312460 | 51 | D>H | No | TOPMed | |
rs781215006 | 53 | R>Q | No |
ExAC gnomAD |
|
rs2079563022 | 55 | G>R | No | gnomAD | |
rs2079563381 | 56 | P>S | No | TOPMed | |
rs573227442 | 57 | I>V | No |
1000Genomes gnomAD |
|
rs1190359315 | 61 | P>L | No | TOPMed | |
rs1283177292 | 61 | P>S | No | gnomAD | |
rs769353974 COSM3914774 COSM3914775 |
63 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs775004208 | 63 | R>H | No |
ExAC TOPMed gnomAD |
|
rs775004208 | 63 | R>L | No |
ExAC TOPMed gnomAD |
|
rs2148579012 | 65 | N>S | No | Ensembl | |
rs1316809493 | 68 | R>G | No |
TOPMed gnomAD |
|
rs2079566226 | 69 | I>R | No | Ensembl | |
TCGA novel | 69 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs370661492 | 69 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 70 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1227140076 | 73 | D>E | No | TOPMed | |
rs772405317 | 73 | D>N | No |
ExAC gnomAD |
|
rs1235896186 | 74 | L>V | No | gnomAD | |
rs978430945 | 75 | R>Q | No |
TOPMed gnomAD |
|
rs144465315 | 75 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777198177 | 78 | V>M | No |
ExAC TOPMed gnomAD |
|
rs759529176 | 79 | T>M | No |
ExAC TOPMed gnomAD |
|
rs758731038 | 82 | A>V | No |
ExAC gnomAD |
|
rs1449739109 | 83 | S>R | No | gnomAD | |
rs574386011 | 83 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs751354420 | 84 | V>M | No |
ExAC gnomAD |
|
rs2079570141 | 85 | P>L | No | gnomAD | |
rs1020279770 | 86 | S>N | No | TOPMed | |
rs1160137462 COSM203195 COSM203194 |
89 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
rs898030291 COSM1291590 COSM1291589 |
92 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated TOPMed gnomAD |
COSM445464 rs377636182 COSM445465 |
92 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs765392431 | 93 | G>S | No | Ensembl | |
rs1481079723 | 95 | T>A | No | Ensembl | |
rs142301867 | 98 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2073283262 | 100 | M>T | No | Ensembl | |
rs2073283729 | 101 | R>Q | No | TOPMed | |
rs1220317537 | 101 | R>W | No |
TOPMed gnomAD |
|
rs371306814 | 102 | G>A | No |
ESP ExAC gnomAD |
|
COSM1037410 COSM1037408 |
102 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs371306814 | 102 | G>D | No |
ESP ExAC gnomAD |
|
rs371306814 | 102 | G>V | No |
ESP ExAC gnomAD |
|
rs1580234569 | 106 | D>A | No | Ensembl | |
rs371412369 | 110 | P>L | No |
ESP TOPMed |
|
rs754488298 | 110 | P>S | No | ExAC | |
rs754488298 | 110 | P>T | No | ExAC | |
rs778530203 | 111 | L>I | No |
ExAC gnomAD |
|
rs750456225 COSM1418469 COSM1418468 |
114 | T>M | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
TCGA novel | 114 | T>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs901620253 | 124 | H>R | No | Ensembl | |
rs746245547 | 124 | H>Y | No |
ExAC gnomAD |
|
rs1178611748 | 125 | V>A | No | gnomAD | |
rs2073288809 | 125 | V>L | No | Ensembl | |
rs1236708306 | 127 | L>P | No | gnomAD | |
rs1180122748 | 132 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
TCGA novel | 134 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs763062554 | 135 | W>* | No |
ExAC gnomAD |
|
TCGA novel | 135 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774706026 | 141 | N>T | No |
ExAC TOPMed gnomAD |
|
rs1391658619 | 143 | G>S | No | Ensembl | |
rs762145667 | 146 | K>R | No |
ExAC gnomAD |
|
rs2073293089 | 148 | I>T | No | Ensembl | |
rs767185496 | 148 | I>V | No |
ExAC gnomAD |
|
rs774614237 | 151 | T>A | No |
ExAC gnomAD |
|
rs565525175 | 151 | T>K | No |
1000Genomes TOPMed gnomAD |
|
rs565525175 | 151 | T>M | No |
1000Genomes TOPMed gnomAD |
|
rs565525175 | 151 | T>R | No |
1000Genomes TOPMed gnomAD |
|
rs774614237 | 151 | T>S | No |
ExAC gnomAD |
|
rs2073849607 | 153 | M>R | No | Ensembl | |
rs2073849386 | 153 | M>V | No | TOPMed | |
rs1334297228 | 154 | V>I | No |
TOPMed gnomAD |
|
rs1334297228 | 154 | V>L | No |
TOPMed gnomAD |
|
rs773320991 | 156 | V>M | No |
ExAC gnomAD |
|
rs1356176088 | 158 | G>S | No | gnomAD | |
rs760513110 | 160 | T>K | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 160 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1360520595 | 165 | P>H | No |
TOPMed gnomAD |
|
rs1360520595 | 165 | P>L | No |
TOPMed gnomAD |
|
rs2073851710 | 165 | P>S | No | Ensembl | |
TCGA novel | 166 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 169 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073853237 | 172 | F>L | No | TOPMed | |
TCGA novel | 177 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073854004 | 179 | N>H | No | Ensembl | |
rs1215782059 | 179 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1257842203 | 181 | E>K | No | gnomAD | |
COSM419871 | 181 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763739407 | 182 | E>D | No |
ExAC gnomAD |
|
rs2073855110 | 182 | E>G | No | Ensembl | |
rs151088783 | 182 | E>K | No |
ESP ExAC gnomAD |
|
rs2073855622 | 184 | I>F | No | TOPMed | |
rs751239598 | 184 | I>T | No |
ExAC gnomAD |
|
COSM3057466 rs546138856 COSM3057467 |
185 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1016340742 | 187 | R>Q | No | Ensembl | |
rs749782159 | 187 | R>W | No |
ExAC gnomAD |
|
TCGA novel | 188 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs963435305 | 189 | S>A | No | gnomAD | |
COSM3586558 COSM3586557 |
189 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM203197 COSM203196 |
193 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1304743134 | 195 | N>D | No |
TOPMed gnomAD |
|
rs2148922485 | 195 | N>S | No | Ensembl | |
VAR_041898 | 196 | S>L | No | UniProt | |
rs199923777 | 196 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs748202694 | 197 | A>S | No |
ExAC TOPMed gnomAD |
|
rs748202694 | 197 | A>T | No |
ExAC TOPMed gnomAD |
|
COSM6095931 COSM6095932 |
198 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073859417 COSM1037414 COSM1037412 |
198 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs2073859820 | 199 | H>R | No | Ensembl | |
COSM4112939 COSM4112940 |
201 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747243242 | 202 | S>L | No |
ExAC TOPMed gnomAD |
|
COSM1582553 rs776366541 COSM1582552 |
203 | R>C | stomach [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs776366541 | 203 | R>G | No |
ExAC TOPMed gnomAD |
|
rs1235906165 | 203 | R>H | No | gnomAD | |
TCGA novel rs2073861636 |
205 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs868144047 | 207 | L>F | No | TOPMed | |
rs775290866 | 208 | Q>R | No |
ExAC gnomAD |
|
rs371783045 | 210 | M>I | No |
ESP TOPMed gnomAD |
|
rs369521014 | 210 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2073863106 | 212 | A>V | No | gnomAD | |
rs758996837 | 213 | R>L | No |
TOPMed gnomAD |
|
COSM5746171 COSM5746170 rs758996837 |
213 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
COSM33699 VAR_035976 rs1187034389 COSM1418470 |
213 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
NCI-TCGA Cosmic cosmic curated UniProt NCI-TCGA TOPMed dbSNP gnomAD |
rs147943506 | 217 | P>S | No |
ESP ExAC gnomAD |
|
rs2073864749 | 218 | V>A | No | Ensembl | |
rs1395880205 | 219 | D>G | No |
TOPMed gnomAD |
|
COSM3586559 COSM3586560 |
219 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1395880205 | 219 | D>V | No |
TOPMed gnomAD |
|
rs757014696 | 220 | V>M | No |
ExAC gnomAD |
|
COSM419869 | 221 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201371514 | 223 | S>C | No | gnomAD | |
rs754207770 | 224 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs2073866134 COSM1418471 COSM1418472 |
224 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
COSM167940 COSM167939 rs955692370 |
225 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
rs2073867233 | 226 | L>F | No | TOPMed | |
rs2073867233 | 226 | L>V | No | TOPMed | |
rs779412797 | 227 | I>T | No |
ExAC TOPMed gnomAD |
|
rs200074249 | 228 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748659408 | 228 | D>V | No |
ExAC gnomAD |
|
rs2073868149 | 229 | E>* | No | TOPMed | |
rs2073868149 | 229 | E>K | No | TOPMed | |
rs1213746877 | 230 | H>L | No | Ensembl | |
rs1238959225 | 233 | L>F | No | gnomAD | |
TCGA novel | 234 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1283525207 | 234 | K>R | No | gnomAD | |
rs777754688 | 235 | K>Q | No |
ExAC gnomAD |
|
rs988543950 | 235 | K>R | No | gnomAD | |
TCGA novel | 235 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs747144139 | 236 | K>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 237 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4928998 COSM4928997 |
240 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1453781646 | 241 | P>R | No | gnomAD | |
COSM6162918 COSM6162917 |
244 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745593277 | 244 | E>Q | No |
ExAC gnomAD |
|
rs1253377965 | 245 | L>V | No |
TOPMed gnomAD |
|
rs1580287196 | 246 | D>A | No | Ensembl | |
COSM479330 COSM479331 |
246 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1176928133 | 247 | R>L | No | gnomAD | |
rs1176928133 | 247 | R>Q | No | gnomAD | |
rs769640788 | 247 | R>W | No |
ExAC TOPMed gnomAD |
|
rs775488440 | 248 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1348249425 | 251 | R>Q | No |
TOPMed gnomAD |
|
COSM1255177 COSM1255178 rs763633331 |
251 | R>W | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs767223024 | 255 | C>R | No |
ExAC TOPMed gnomAD |
|
rs927106953 | 256 | I>L | No | Ensembl | |
rs759964034 | 257 | R>H | No |
ExAC TOPMed gnomAD |
|
rs2148924116 | 257 | R>S | No | Ensembl | |
rs2073875672 | 258 | C>S | No | TOPMed | |
rs765568473 | 259 | S>G | No |
ExAC gnomAD |
|
rs2073876095 | 259 | S>N | No | gnomAD | |
rs1407730598 COSM3767212 COSM3767213 |
259 | S>R | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs141564219 | 260 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs753215758 | 260 | D>N | No |
ExAC gnomAD |
|
rs527852522 | 261 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1580288002 COSM4900597 COSM4900596 |
261 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs527852522 | 261 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs996749611 | 262 | F>S | No |
TOPMed gnomAD |
|
rs2073877713 | 262 | F>V | No | TOPMed | |
rs1400621156 | 264 | G>R | No |
TOPMed gnomAD |
|
rs1273741730 | 265 | R>C | No |
TOPMed gnomAD |
|
rs2073879146 | 265 | R>H | No | Ensembl | |
rs1273741730 | 265 | R>S | No |
TOPMed gnomAD |
|
rs376230974 | 266 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1560415752 | 267 | C>G | No | Ensembl | |
rs955352199 | 270 | G>D | No |
TOPMed gnomAD |
|
rs779756637 | 271 | S>I | No |
ExAC gnomAD |
|
rs779756637 | 271 | S>N | No |
ExAC gnomAD |
|
rs2148924676 | 271 | S>R | No | Ensembl | |
TCGA novel | 272 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073881639 | 276 | S>N | No | Ensembl | |
rs2073881849 | 277 | L>P | No | Ensembl | |
rs2148924767 | 279 | P>H | No | Ensembl | |
rs1464349618 | 283 | S>N | No | gnomAD | |
rs2148924832 | 284 | L>F | No | Ensembl | |
rs768428705 | 286 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1442459337 | 289 | H>D | No | gnomAD | |
rs771777430 | 290 | S>C | No |
ExAC TOPMed gnomAD |
|
rs772974571 | 292 | R>G | No |
ExAC TOPMed gnomAD |
|
COSM1195816 COSM1195817 rs1293775314 |
292 | R>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs772974571 | 292 | R>W | No |
ExAC TOPMed gnomAD |
|
rs760442264 | 294 | H>N | No |
ExAC gnomAD |
|
rs1275974427 | 295 | L>M | No | gnomAD | |
rs2148925164 | 296 | H>N | No | Ensembl | |
rs2073885436 | 296 | H>R | No | Ensembl | |
rs974673495 | 299 | W>* | No |
TOPMed gnomAD |
|
rs2272486 | 300 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763385799 | 301 | V>L | No |
ExAC TOPMed gnomAD |
|
rs763385799 | 301 | V>M | No |
ExAC TOPMed gnomAD |
|
rs2073887348 TCGA novel |
302 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
COSM1211325 rs1486661865 COSM1211326 |
302 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1486661865 | 302 | R>L | No |
TOPMed gnomAD |
|
rs1477112890 | 307 | D>G | No | gnomAD | |
rs757313652 | 309 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs779344452 | 311 | Q>E | No | Ensembl | |
rs1458418566 | 313 | R>Q | No | gnomAD | |
COSM75062 rs2148925540 COSM1037416 |
313 | R>W | ovary Variant assessed as Somatic; MODERATE impact. pancreas large_intestine endometrium [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2073889403 | 314 | L>I | No |
TOPMed gnomAD |
|
rs202144425 | 315 | F>L | No |
ExAC TOPMed gnomAD |
|
rs750616980 | 315 | F>V | No |
ExAC gnomAD |
|
rs200361341 | 316 | E>K | No |
ExAC gnomAD |
|
rs200361341 | 316 | E>Q | No |
ExAC gnomAD |
|
rs2073890715 | 317 | Q>* | No | Ensembl | |
COSM4112944 COSM4112943 rs768503730 |
317 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs778991469 | 318 | D>H | No |
ExAC TOPMed gnomAD |
|
rs1339336597 | 320 | E>V | No |
TOPMed gnomAD |
|
rs2073891850 | 321 | K>R | No | Ensembl | |
rs1386584872 | 324 | D>V | No |
TOPMed gnomAD |
|
rs1580674727 | 326 | I>K | No | Ensembl | |
rs754157855 | 327 | S>G | No |
ExAC gnomAD |
|
rs754718379 | 327 | S>N | No | ExAC | |
rs754157855 | 327 | S>R | No |
ExAC gnomAD |
|
rs1285523607 | 328 | H>Q | No |
TOPMed gnomAD |
|
rs143158095 | 329 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
COSM4112945 COSM4112946 |
330 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747987292 | 331 | E>K | No | ExAC | |
rs1451361257 | 334 | L>R | No | Ensembl | |
rs758361379 COSM321088 COSM321087 |
335 | Q>R | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs777866244 | 338 | T>K | No |
ExAC TOPMed gnomAD |
|
rs777866244 | 338 | T>M | No |
ExAC TOPMed gnomAD |
|
rs553248799 | 339 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 339 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3722230 rs2149214219 COSM3722229 |
341 | G>R | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
TCGA novel | 344 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs146706912 | 347 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1321579749 | 347 | A>V | No | gnomAD | |
rs1396411645 | 349 | D>E | No |
TOPMed gnomAD |
|
rs1039047840 | 351 | Q>R | No | Ensembl | |
rs762191401 | 352 | T>A | No |
ExAC TOPMed |
|
COSM203200 COSM203199 rs767954772 |
352 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs762191401 | 352 | T>P | No |
ExAC TOPMed |
|
rs1219770714 | 354 | H>R | No | Ensembl | |
rs2077050404 | 354 | H>Y | No | Ensembl | |
rs2077050855 | 355 | N>S | No | TOPMed | |
COSM445468 COSM445467 |
356 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200318501 | 357 | F>L | No | 1000Genomes | |
COSM5983034 COSM5983033 |
358 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1220622389 | 358 | A>T | No |
TOPMed gnomAD |
|
rs1280186140 | 358 | A>V | No | gnomAD | |
rs766540759 | 359 | M>R | No |
ExAC TOPMed gnomAD |
|
rs766540759 | 359 | M>T | No |
ExAC TOPMed gnomAD |
|
rs202139324 | 359 | M>V | No |
1000Genomes ExAC gnomAD |
|
rs1580675946 | 360 | N>D | No |
TOPMed gnomAD |
|
rs1275604494 | 360 | N>I | No | gnomAD | |
rs373123729 | 360 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1275604494 | 360 | N>T | No | gnomAD | |
rs765577380 | 362 | M>R | No |
ExAC gnomAD |
|
rs765577380 | 362 | M>T | No |
ExAC gnomAD |
|
rs755186379 | 362 | M>V | No |
ExAC TOPMed gnomAD |
|
COSM4894018 COSM4894019 |
364 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs945697999 | 365 | Y>C | No |
TOPMed gnomAD |
|
rs945697999 | 365 | Y>S | No |
TOPMed gnomAD |
|
TCGA novel | 366 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs200722793 | 367 | N>Y | No |
1000Genomes ExAC |
|
rs1580982931 | 369 | N>T | No | Ensembl | |
rs765485010 | 370 | R>C | No |
ExAC TOPMed gnomAD |
|
rs765485010 | 370 | R>G | No |
ExAC TOPMed gnomAD |
|
rs762826694 | 370 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs765485010 | 370 | R>S | No |
ExAC TOPMed gnomAD |
|
rs764027557 | 371 | I>L | No |
ExAC TOPMed gnomAD |
|
rs764027557 | 371 | I>V | No |
ExAC TOPMed gnomAD |
|
rs751419394 | 372 | M>I | No |
ExAC gnomAD |
|
rs1463336252 | 372 | M>T | No | gnomAD | |
rs1012568707 | 372 | M>V | No |
TOPMed gnomAD |
|
rs1161094085 COSM1693357 COSM1693358 |
373 | S>F | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1580983271 | 373 | S>P | No | Ensembl | |
rs749891135 COSM1418475 COSM1418476 |
374 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs201405841 | 376 | S>F | No |
ExAC gnomAD |
|
rs779681212 | 376 | S>P | No | ExAC | |
rs564023716 | 377 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs778157076 | 377 | R>H | No |
ExAC TOPMed gnomAD |
|
rs778157076 | 377 | R>L | No |
ExAC TOPMed gnomAD |
|
rs778157076 | 377 | R>P | No |
ExAC TOPMed gnomAD |
|
rs1228636476 | 378 | L>F | No | gnomAD | |
rs777005096 | 378 | L>P | No | ExAC | |
rs1251483120 | 379 | S>P | No | gnomAD | |
TCGA novel | 380 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1037422 COSM1037420 |
381 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763305275 | 382 | G>A | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 382 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs775831111 | 382 | G>S | No |
ExAC TOPMed gnomAD |
|
COSM1037425 rs764255455 COSM1037423 |
384 | Y>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1232182380 | 385 | A>D | No | TOPMed | |
rs1232182380 | 385 | A>G | No | TOPMed | |
rs751320978 | 389 | I>F | No |
ExAC gnomAD |
|
rs1490848802 | 389 | I>M | No |
TOPMed gnomAD |
|
rs1003519497 | 392 | I>L | No |
TOPMed gnomAD |
|
rs1003519497 | 392 | I>V | No |
TOPMed gnomAD |
|
rs1193671850 | 394 | T>I | No |
TOPMed gnomAD |
|
TCGA novel | 395 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2079877033 | 397 | D>N | No | Ensembl | |
rs368108358 | 399 | E>K | No | Ensembl | |
rs142370141 | 401 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs750398446 | 402 | S>N | No |
ExAC gnomAD |
|
rs1376143446 | 402 | S>R | No | gnomAD | |
rs2289778 | 403 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 404 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1287577678 | 404 | A>T | No | gnomAD | |
rs1226894346 | 404 | A>V | No |
TOPMed gnomAD |
|
rs2149403091 | 405 | A>S | No | Ensembl | |
TCGA novel | 405 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs754572975 COSM1037428 COSM1037426 |
410 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs139591910 | 410 | R>H | No |
TOPMed gnomAD |
|
rs778440570 | 411 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1445082655 | 412 | T>N | No | TOPMed | |
rs1282025271 | 412 | T>S | No | gnomAD | |
rs2079881212 | 413 | I>V | No | TOPMed | |
rs1215285323 | 415 | A>S | No |
TOPMed gnomAD |
|
rs1215285323 | 415 | A>T | No |
TOPMed gnomAD |
|
rs747328303 | 416 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs771263399 | 418 | A>T | No |
ExAC gnomAD |
|
rs2079883340 | 421 | H>R | No | TOPMed | |
rs1321067563 | 421 | H>Y | No |
TOPMed gnomAD |
|
rs1460566800 | 422 | Q>R | No | TOPMed | |
rs781715049 | 423 | K>Q | No |
ExAC gnomAD |
|
TCGA novel | 424 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs138624947 | 424 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 424 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4825266 COSM4825267 |
425 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM581307 COSM581308 rs754353572 |
426 | Q>K | lung [Cosmic] | No |
cosmic curated gnomAD |
TCGA novel | 427 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 427 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs781448055 | 429 | S>L | No |
ExAC gnomAD |
|
rs2149431810 | 430 | G>V | No | Ensembl | |
rs2080332139 | 431 | V>E | No | Ensembl | |
rs780720857 | 431 | V>M | No |
ExAC gnomAD |
|
rs1273521942 | 433 | A>D | No | gnomAD | |
rs749314623 | 433 | A>T | No |
ExAC gnomAD |
|
rs1581027495 | 435 | C>G | No | Ensembl | |
rs768685899 | 437 | M>T | No |
ExAC TOPMed gnomAD |
|
rs774623456 | 440 | E>K | No |
ExAC gnomAD |
|
rs1181397779 | 441 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1255533658 | 442 | G>D | No | gnomAD | |
rs748371425 | 445 | S>P | No |
ExAC gnomAD |
|
rs1408634891 | 446 | E>K | No |
TOPMed gnomAD |
|
rs1408634891 | 446 | E>Q | No |
TOPMed gnomAD |
|
rs2080336267 | 447 | M>I | No | gnomAD | |
rs2080336105 | 447 | M>T | No | gnomAD | |
rs2080336520 | 448 | Q>K | No | TOPMed | |
COSM1308499 COSM1308498 |
449 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs111472457 | 451 | E>D | No |
ExAC gnomAD |
|
rs145154359 | 452 | L>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs575848633 | 452 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3800979 COSM3800980 |
453 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs950036349 | 454 | I>T | No |
TOPMed gnomAD |
|
COSM4935570 COSM4935571 |
455 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1051582363 | 455 | H>Q | No |
TOPMed gnomAD |
|
rs1360998481 | 456 | H>Q | No |
TOPMed gnomAD |
|
rs2080338370 | 456 | H>R | No | gnomAD | |
rs555007733 | 457 | H>N | No |
1000Genomes gnomAD |
|
rs555007733 | 457 | H>Y | No |
1000Genomes gnomAD |
|
rs768120788 | 459 | T>I | No |
ExAC gnomAD |
|
rs1560582010 | 467 | A>T | No | Ensembl | |
rs1278212375 | 469 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1278212375 | 469 | T>R | No |
TOPMed gnomAD |
|
rs752576805 | 471 | V>A | No | Ensembl | |
rs2080900906 | 472 | S>R | No | gnomAD | |
rs544049520 | 474 | D>G | No | 1000Genomes | |
TCGA novel | 475 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM203207 COSM203208 |
475 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3974128 COSM3974127 |
476 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1037431 COSM1037429 rs1373087480 |
477 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs1320211256 | 480 | D>E | No | gnomAD | |
rs1345558885 | 481 | V>M | No | gnomAD | |
rs763644292 | 484 | R>L | No |
ExAC TOPMed gnomAD |
|
rs763644292 | 484 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs201924423 | 484 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs779499911 | 487 | S>G | No |
ExAC gnomAD |
|
rs1468302262 | 488 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs752649073 | 488 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs758537308 | 489 | G>R | No |
ExAC TOPMed gnomAD |
|
rs777954894 | 490 | N>K | No |
ExAC TOPMed gnomAD |
|
COSM3586566 COSM3586565 |
491 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1375131220 | 491 | S>P | No | TOPMed | |
rs912846821 | 492 | E>D | No |
TOPMed gnomAD |
|
rs770680654 | 492 | E>K | No |
ExAC TOPMed gnomAD |
|
COSM5863372 COSM5863371 |
493 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1037434 COSM1037432 |
493 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs753457795 | 495 | T>M | No |
ExAC TOPMed gnomAD |
|
rs769559282 | 497 | T>A | No |
ExAC gnomAD |
|
rs1193038388 | 498 | A>T | No |
TOPMed gnomAD |
|
rs2080907590 | 499 | N>S | No | TOPMed | |
rs142387311 | 502 | K>E | No |
ESP ExAC gnomAD |
|
rs768339670 | 502 | K>R | No |
ExAC TOPMed gnomAD |
|
rs2080908821 | 504 | V>M | No | Ensembl | |
rs1444242851 | 506 | Q>E | No | gnomAD | |
TCGA novel | 508 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 509 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs369079208 | 510 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs369079208 | 510 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs2080910519 | 512 | H>L | No | Ensembl | |
TCGA novel | 512 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766098131 | 513 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1560594705 COSM3586570 COSM3586569 |
513 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1560594754 | 514 | V>L | No | Ensembl | |
rs765655082 | 516 | H>Y | No |
ExAC gnomAD |
|
rs950358380 | 518 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1560594838 | 519 | R>Q | No | TOPMed | |
rs35057827 | 520 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs35057827 | 520 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM2154299 rs147539685 COSM2154300 |
520 | R>W | pancreas central_nervous_system [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM727794 COSM727793 |
522 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1581078329 | 522 | E>G | No | Ensembl | |
rs1435543271 | 523 | S>N | No |
TOPMed gnomAD |
|
rs757420104 | 527 | H>D | No |
ExAC gnomAD |
|
rs757420104 | 527 | H>Y | No |
ExAC gnomAD |
|
rs781489605 | 528 | R>C | No |
ExAC TOPMed gnomAD |
|
rs781489605 | 528 | R>G | No |
ExAC TOPMed gnomAD |
|
rs745583948 COSM1037440 COSM1037438 |
528 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs745583948 | 528 | R>P | No |
ExAC gnomAD |
|
rs1581078564 | 530 | V>G | No | Ensembl | |
rs145372611 | 530 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs559509346 | 531 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs200426937 | 531 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1581078764 | 533 | H>P | No | Ensembl | |
rs765678789 | 535 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs373695522 | 535 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs933226210 | 536 | L>V | No | Ensembl | |
COSM6162913 COSM6162914 |
539 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1227217399 | 540 | V>D | No | gnomAD | |
rs1056310843 RCV002249056 |
540 | V>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs1056310843 | 540 | V>L | No |
TOPMed gnomAD |
|
rs1239242304 | 550 | D>G | No | gnomAD | |
rs1031039993 | 550 | D>N | No | gnomAD | |
rs1031039993 | 550 | D>Y | No | gnomAD | |
COSM6095925 COSM6095926 |
551 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 551 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777885226 | 552 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1204492703 | 553 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1430155437 | 556 | G>D | No | gnomAD | |
rs753908960 | 558 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1189439510 | 558 | A>T | No | gnomAD | |
rs753908960 | 558 | A>V | No |
ExAC TOPMed gnomAD |
|
rs989671927 | 559 | F>Y | No |
TOPMed gnomAD |
|
rs1560631756 | 563 | H>Q | No | Ensembl | |
rs2082337974 | 564 | T>A | No | Ensembl | |
rs1453598096 | 564 | T>S | No |
TOPMed gnomAD |
|
rs2082338325 | 565 | G>A | No | Ensembl | |
rs915365444 | 566 | V>A | No | Ensembl | |
rs537533367 | 568 | K>M | No |
1000Genomes ExAC |
|
rs557200353 | 571 | H>R | No |
1000Genomes ExAC gnomAD |
|
rs756322644 | 574 | R>G | No |
ExAC TOPMed gnomAD |
|
rs766536285 | 574 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs756322644 | 574 | R>W | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 576 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM5420873 COSM5420874 |
581 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082340890 | 582 | D>E | No | Ensembl | |
rs754827445 | 582 | D>N | No | ExAC | |
rs2082341506 | 585 | E>D | No | TOPMed | |
rs1231654429 | 585 | E>G | No |
TOPMed gnomAD |
|
rs61746078 | 585 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1231654429 | 585 | E>V | No |
TOPMed gnomAD |
|
rs2082341703 | 587 | A>D | No | Ensembl | |
rs752728212 | 588 | Q>* | No | ExAC | |
rs752728212 | 588 | Q>K | No | ExAC | |
rs777294280 | 588 | Q>L | No | ExAC | |
rs777294280 | 588 | Q>R | No | ExAC | |
COSM1037443 COSM1037441 |
590 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1037444 COSM1037446 |
590 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1658158752 | 592 | T>I | No | gnomAD | |
rs1461199372 | 594 | A>E | No | gnomAD | |
COSM3426986 rs1461199372 COSM3426985 |
594 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs1214930111 | 596 | K>R | No | TOPMed | |
rs1295895983 | 598 | L>P | No | gnomAD | |
rs768979505 | 599 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs779210976 | 602 | E>A | No |
ExAC TOPMed |
|
rs779210976 | 602 | E>G | No |
ExAC TOPMed |
|
rs1410285689 | 603 | Q>H | No |
TOPMed gnomAD |
|
rs371608281 | 605 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs371608281 | 605 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2087969095 | 607 | T>M | No | TOPMed | |
rs760808499 | 608 | G>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 609 | E>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1459444810 | 611 | D>E | No |
TOPMed gnomAD |
|
rs771180721 | 612 | P>A | No |
ExAC gnomAD |
|
rs765575292 | 613 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1483462479 | 615 | I>T | No | gnomAD | |
rs2087975349 | 616 | Y>C | No | gnomAD | |
rs1576479506 | 616 | Y>H | No | Ensembl | |
COSM3992690 COSM3992691 |
617 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1476372037 | 619 | A>S | No | gnomAD | |
rs2087977126 | 620 | R>G | No |
TOPMed gnomAD |
|
rs943574312 | 620 | R>P | No | Ensembl | |
COSM1255179 COSM1255180 rs943574312 |
620 | R>Q | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1039448876 | 621 | H>P | No | Ensembl | |
rs548490375 | 621 | H>Q | No |
1000Genomes ExAC gnomAD |
|
rs1231883400 | 621 | H>Y | No | TOPMed | |
rs1427491805 | 622 | L>M | No | gnomAD | |
COSM6095924 COSM6095923 |
622 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751509204 | 624 | V>G | No |
ExAC gnomAD |
|
rs377421115 | 625 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs377421115 | 625 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs749969083 | 625 | R>H | No |
ExAC TOPMed gnomAD |
|
rs749969083 | 625 | R>L | No |
ExAC TOPMed gnomAD |
|
rs749969083 | 625 | R>P | No |
ExAC TOPMed gnomAD |
|
rs141013560 | 626 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
COSM3586573 COSM3586574 |
627 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2087983869 | 628 | D>G | No | TOPMed | |
COSM1037447 COSM1037449 |
628 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1450157789 | 630 | V>L | No | gnomAD | |
rs1450157789 | 630 | V>M | No | gnomAD | |
COSM4955979 rs1400105743 COSM4955980 |
631 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
COSM4112949 rs748480747 COSM4112950 |
631 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs748480747 | 631 | R>L | No |
ExAC TOPMed gnomAD |
|
COSM6162911 COSM6162912 |
632 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2087987387 | 634 | E>D | No | TOPMed | |
rs1422971968 | 634 | E>G | No | TOPMed | |
COSM1566304 COSM1566303 |
634 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 636 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4112951 COSM4112952 rs2087988200 |
636 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1417596326 | 637 | K>E | No | Ensembl | |
rs1172076286 | 639 | L>I | No |
TOPMed gnomAD |
|
rs2087991616 | 643 | S>T | No | Ensembl | |
rs2087992428 | 644 | V>A | No | TOPMed | |
COSM1693366 COSM1693365 |
645 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1444586301 | 648 | T>A | No | gnomAD | |
rs141149712 | 648 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141149712 | 648 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2087995330 | 649 | H>Q | No | TOPMed | |
rs145738438 | 650 | T>I | No | ESP | |
rs1560759361 | 651 | K>E | No | Ensembl | |
TCGA novel | 651 | K>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 652 | E>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs2089992924 | 653 | L>M | No | Ensembl | |
rs148882611 | 654 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
rs13074913 | 654 | W>G | No | Ensembl | |
COSM3586576 COSM3586575 |
656 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs189745979 | 657 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs189745979 | 657 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1037451 COSM1037453 |
659 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs141371914 | 660 | L>F | No |
1000Genomes gnomAD |
|
rs141371914 | 660 | L>I | No |
1000Genomes gnomAD |
|
rs13095390 | 661 | Q>H | No | Ensembl | |
rs761612101 | 664 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1212666711 | 665 | L>V | No | gnomAD | |
TCGA novel | 667 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1414173758 | 668 | V>I | No | gnomAD | |
rs538115022 | 670 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs773202936 | 672 | S>C | No |
ExAC gnomAD |
|
rs773202936 | 672 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs760169259 | 674 | D>H | No |
ExAC TOPMed gnomAD |
|
rs1184266369 | 677 | Q>R | No | gnomAD | |
TCGA novel | 681 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs9841322 | 681 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1576558407 | 683 | F>V | No | Ensembl | |
COSM727792 COSM727791 |
684 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 685 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1393194522 | 688 | T>P | No | gnomAD | |
rs141093471 | 689 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2090002029 | 689 | A>V | No | gnomAD | |
TCGA novel | 691 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1412222592 | 692 | D>N | No | gnomAD | |
rs1289591044 | 696 | N>D | No |
TOPMed gnomAD |
|
rs757760603 | 696 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 697 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs772163857 | 697 | V>I | No |
TOPMed gnomAD |
|
rs1462181059 | 699 | K>Q | No | TOPMed | |
rs756232057 | 702 | E>K | No |
ExAC TOPMed gnomAD |
|
rs2150060768 | 703 | D>N | No | Ensembl | |
rs749410144 | 705 | I>M | No |
ExAC gnomAD |
|
rs376459385 | 705 | I>N | No |
ESP ExAC TOPMed gnomAD |
|
rs376459385 | 705 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1237023124 | 705 | I>V | No |
TOPMed gnomAD |
|
rs2090005802 | 707 | Q>K | No | Ensembl | |
rs1252507260 | 707 | Q>R | No |
TOPMed gnomAD |
|
rs1185089231 | 710 | S>* | No | gnomAD | |
rs779202679 | 710 | S>A | No |
ExAC TOPMed |
|
rs369298361 | 711 | A>V | No |
ESP ExAC gnomAD |
|
rs773114910 | 712 | P>L | No |
ExAC gnomAD |
|
rs1312603937 | 712 | P>S | No |
TOPMed gnomAD |
|
rs267599582 | 714 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs1373234506 | 715 | L>F | No | gnomAD | |
rs770918810 | 716 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs770918810 | 716 | G>W | No |
ExAC TOPMed gnomAD |
|
rs2090011648 | 717 | E>A | No | TOPMed | |
rs752454092 | 717 | E>D | No |
ExAC gnomAD |
|
rs944511609 | 718 | P>S | No | Ensembl | |
rs2090012870 | 719 | S>G | No | Ensembl | |
rs138531803 | 719 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
rs768033121 | 719 | S>R | No |
ExAC gnomAD |
|
rs756529548 | 720 | E>K | No |
ExAC gnomAD |
|
rs756529548 | 720 | E>Q | No |
ExAC gnomAD |
|
rs1560792214 | 721 | A>T | No | Ensembl | |
TCGA novel | 721 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2090480291 | 723 | D>E | No | TOPMed | |
rs1487526596 | 725 | A>P | No |
TOPMed gnomAD |
|
rs1166624148 | 726 | V>M | No |
TOPMed gnomAD |
|
rs61745397 | 727 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1560804184 | 728 | N>I | No | Ensembl | |
rs1576587745 | 731 | T>P | No | Ensembl | |
rs1458141208 | 732 | P>H | No |
TOPMed gnomAD |
|
rs1458141208 | 732 | P>L | No |
TOPMed gnomAD |
|
rs775092304 | 732 | P>S | No |
1000Genomes ExAC gnomAD |
|
rs748821534 | 733 | H>N | No |
ExAC gnomAD |
|
rs2090484629 | 734 | S>N | No |
TOPMed gnomAD |
|
rs768358120 | 734 | S>R | No |
ExAC TOPMed gnomAD |
|
rs2150096412 | 735 | S>G | No | Ensembl | |
rs1576587863 | 736 | S>P | No | Ensembl | |
rs774215335 | 737 | I>T | No |
ExAC gnomAD |
|
COSM1418483 COSM1418484 |
738 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150096471 | 739 | H>N | No | Ensembl | |
rs1265098734 | 741 | E>G | No | gnomAD | |
rs760936416 | 741 | E>K | No |
ExAC gnomAD |
|
rs766818886 | 742 | S>L | No |
ExAC TOPMed gnomAD |
|
COSM6162909 COSM6162910 |
743 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762878763 | 743 | V>L | No | Ensembl | |
rs369602016 | 745 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs752703180 | 746 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs1021976643 | 747 | L>F | No | TOPMed | |
rs1576588072 | 749 | D>N | No | Ensembl | |
rs1448085432 | 751 | Q>E | No | gnomAD | |
rs2090488607 | 752 | V>M | No | TOPMed | |
TCGA novel | 753 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1241536596 | 754 | M>T | No |
TOPMed gnomAD |
|
rs758537143 | 755 | E>D | No |
ExAC gnomAD |
|
rs764284502 | 756 | E>* | No |
ExAC gnomAD |
|
rs1224063744 | 756 | E>A | No |
TOPMed gnomAD |
|
COSM3914779 COSM3914778 |
756 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764284502 | 756 | E>Q | No |
ExAC gnomAD |
|
rs1482804299 | 758 | F>L | No |
TOPMed gnomAD |
|
rs375653971 | 759 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780999875 | 760 | E>K | No |
ExAC TOPMed gnomAD |
|
rs2090490862 | 760 | E>V | No | TOPMed | |
rs996622312 | 761 | R>Q | No |
TOPMed gnomAD |
|
rs745673540 COSM367336 COSM367337 |
761 | R>W | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1421624620 | 763 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
TCGA novel | 765 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1166553932 | 766 | D>G | No | gnomAD | |
rs2090492379 | 766 | D>N | No | TOPMed | |
rs1428592753 | 767 | I>V | No | gnomAD | |
rs1306069095 | 768 | F>L | No | gnomAD | |
rs150500689 | 770 | Q>K | No | Ensembl | |
rs2090493766 | 771 | L>M | No | gnomAD | |
COSM3396510 COSM3396511 rs768341806 |
772 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs778689129 | 772 | R>H | No |
ExAC TOPMed gnomAD |
|
rs768341806 | 772 | R>S | No |
ExAC TOPMed gnomAD |
|
rs747879072 | 775 | E>D | No |
ExAC gnomAD |
|
rs1341508925 | 779 | I>N | No | gnomAD | |
COSM3057565 COSM3057564 rs1285210270 |
780 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1423941122 | 781 | V>L | No | gnomAD | |
rs201826068 | 783 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375061022 | 785 | L>I | No |
ESP ExAC gnomAD |
|
COSM1308502 COSM1308503 |
786 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150266707 | 786 | D>H | No | Ensembl | |
rs2150266707 | 786 | D>N | No | Ensembl | |
rs755363438 | 787 | A>S | No |
ExAC TOPMed gnomAD |
|
COSM1037459 rs755363438 COSM1037457 |
787 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs779442681 | 792 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA |
rs147503705 | 793 | L>F | No |
ESP ExAC gnomAD |
|
rs2150266960 | 793 | L>H | No | 1000Genomes | |
rs147503705 | 793 | L>I | No |
ESP ExAC gnomAD |
|
rs368587035 | 794 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs773381868 | 794 | R>W | No |
ExAC gnomAD |
|
rs2150267112 COSM1285638 COSM1285637 |
796 | M>I | autonomic_ganglia Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs2150267081 | 796 | M>T | No | Ensembl | |
rs1656215830 | 796 | M>V | No | TOPMed | |
rs771268887 | 800 | N>S | No |
ExAC gnomAD |
|
rs2092316802 | 801 | T>K | No |
TOPMed gnomAD |
|
rs777064745 | 801 | T>S | No |
ExAC gnomAD |
|
rs759346797 | 803 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1239392325 | 804 | L>V | No | gnomAD | |
COSM4399053 rs764993094 COSM4399052 |
805 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1576717041 | 805 | T>P | No | Ensembl | |
rs762761398 | 806 | L>V | No |
ExAC gnomAD |
|
rs538556913 | 807 | A>E | No |
ExAC TOPMed gnomAD |
|
rs538556913 | 807 | A>V | No |
ExAC TOPMed gnomAD |
|
rs140243919 | 808 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1560857325 | 808 | E>K | No | Ensembl | |
rs1560857325 | 808 | E>Q | No | Ensembl | |
rs755345910 | 810 | R>Q | No |
ExAC gnomAD |
|
rs767151194 | 810 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2150267735 | 811 | L>V | No | Ensembl | |
rs1576717326 | 812 | Q>* | No | Ensembl | |
rs1576717326 | 812 | Q>E | No | Ensembl | |
rs753133795 | 812 | Q>R | No |
ExAC gnomAD |
|
COSM1037460 COSM1037462 rs758760625 |
813 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs367667422 | 813 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM3586579 COSM3586580 |
814 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs988749057 | 814 | H>Q | No |
TOPMed gnomAD |
|
rs747085989 | 814 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs1576717478 | 815 | T>K | No | Ensembl | |
rs2150268120 COSM5863373 COSM5863374 |
817 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs781546248 | 817 | R>W | No |
ExAC gnomAD |
|
rs1576717546 | 818 | K>N | No | Ensembl | |
rs912979158 | 819 | L>P | No |
TOPMed gnomAD |
|
rs912979158 | 819 | L>Q | No |
TOPMed gnomAD |
|
rs746030902 | 819 | L>V | No |
ExAC TOPMed gnomAD |
|
rs770088606 | 820 | A>D | No |
ExAC TOPMed gnomAD |
|
rs2150268338 | 821 | M>I | No | Ensembl | |
rs2150268401 | 822 | N>K | No | Ensembl | |
rs775081836 | 822 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2150268453 | 824 | M>I | No | Ensembl | |
rs768566780 | 825 | T>A | No |
ExAC TOPMed gnomAD |
|
rs776598696 | 825 | T>I | No |
ExAC TOPMed gnomAD |
|
rs776598696 | 825 | T>N | No |
ExAC TOPMed gnomAD |
|
rs776598696 | 825 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2150268605 TCGA novel |
827 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
TCGA novel | 829 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2150268641 | 830 | Q>K | No | Ensembl | |
rs2150268696 | 831 | Q>* | No | Ensembl | |
rs2092320778 | 831 | Q>P | No | Ensembl | |
rs760201688 | 832 | G>A | No |
ExAC gnomAD |
|
rs2150268757 | 832 | G>R | No | Ensembl | |
rs752943086 | 833 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs972711554 | 834 | D>G | No | Ensembl | |
rs758868403 | 835 | L>M | No |
ExAC gnomAD |
|
rs752164062 | 836 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs2092321555 | 836 | H>Y | No | TOPMed | |
rs112304715 | 837 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs769850350 | 840 | T>M | No |
ExAC TOPMed gnomAD |
|
COSM3846053 COSM3846052 |
841 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749031723 | 841 | E>A | No |
ExAC TOPMed gnomAD |
|
rs768479973 | 842 | V>A | No |
ExAC TOPMed gnomAD |
|
rs2092322828 | 842 | V>F | No | gnomAD | |
rs1159456558 | 846 | G>E | No | gnomAD | |
rs1204410868 | 851 | C>* | No | Ensembl | |
rs1455971505 | 851 | C>S | No | gnomAD | |
rs771239842 | 852 | E>D | No | gnomAD | |
rs1430346617 | 852 | E>K | No | TOPMed | |
rs2092842206 | 853 | K>E | No | Ensembl | |
rs770526424 | 854 | D>H | No |
ExAC TOPMed gnomAD |
|
COSM300477 COSM300478 |
854 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1366064489 | 855 | I>V | No |
TOPMed gnomAD |
|
rs776030651 | 856 | D>H | No |
ExAC TOPMed gnomAD |
|
rs776030651 | 856 | D>N | No |
ExAC TOPMed gnomAD |
|
rs2092842776 | 858 | A>T | No | TOPMed | |
rs2092842873 | 858 | A>V | No | Ensembl | |
rs193116930 | 859 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs1051553828 | 861 | V>A | No | Ensembl | |
rs762327137 | 862 | Q>* | No |
ExAC gnomAD |
|
rs750978589 | 863 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1017889688 | 864 | L>S | No | TOPMed | |
COSM4411877 COSM4411878 |
864 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs964778183 | 865 | L>F | No |
TOPMed gnomAD |
|
rs766432482 | 866 | E>K | No |
ExAC gnomAD |
|
rs753948334 | 867 | F>L | No |
ExAC gnomAD |
|
rs753948334 | 867 | F>V | No |
ExAC gnomAD |
|
rs1481194638 | 868 | L>F | No | gnomAD | |
rs2150364762 | 869 | H>N | No | Ensembl | |
rs1177397551 | 869 | H>P | No | gnomAD | |
rs1576798965 | 869 | H>Q | No | TOPMed | |
rs1576798996 | 873 | H>Q | No | Ensembl | |
COSM727787 COSM727788 |
873 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150364876 | 875 | L>F | No | Ensembl | |
rs2092845207 | 877 | L>F | No | Ensembl | |
rs1032315445 | 878 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1032315445 | 878 | N>H | No | gnomAD | |
rs2092845495 | 878 | N>S | No | Ensembl | |
rs1164868672 | 879 | A>S | No | gnomAD | |
rs2092845805 | 880 | E>* | No | Ensembl | |
rs1429019381 | 880 | E>G | No | gnomAD | |
TCGA novel | 881 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1275911494 | 881 | Q>E | No |
TOPMed gnomAD |
|
rs893784782 | 882 | T>I | No | Ensembl | |
rs2092846231 | 883 | H>Y | No | gnomAD | |
rs758252421 | 885 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs779118555 | 885 | R>W | No |
ExAC TOPMed gnomAD |
|
COSM1037465 COSM1037463 |
886 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2092846718 | 887 | E>D | No |
TOPMed gnomAD |
|
rs1310212200 | 887 | E>Q | No |
TOPMed gnomAD |
|
rs746919230 | 893 | R>C | No |
ExAC gnomAD |
|
rs770807961 | 893 | R>H | No |
ExAC TOPMed gnomAD |
|
rs770807961 | 893 | R>L | No |
ExAC TOPMed gnomAD |
|
rs1315816214 | 894 | H>R | No |
TOPMed gnomAD |
|
rs776142699 | 900 | K>R | No |
ExAC TOPMed gnomAD |
|
rs375809932 | 902 | V>A | No |
ESP ExAC gnomAD |
|
COSM5521713 COSM5521712 |
904 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs769469581 | 905 | W>C | No |
ExAC gnomAD |
|
rs1422873567 | 905 | W>G | No |
TOPMed gnomAD |
|
rs559612435 | 907 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs369008691 | 907 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs369008691 | 907 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1030945839 | 909 | G>A | No | Ensembl | |
rs1030945839 | 909 | G>E | No | Ensembl | |
rs1181997211 | 910 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs760956956 | 912 | M>I | No |
ExAC TOPMed gnomAD |
|
rs771452399 | 914 | N>S | No |
ExAC TOPMed gnomAD |
|
rs956518670 | 915 | A>P | No |
TOPMed gnomAD |
|
rs956518670 COSM1670521 COSM1670522 |
915 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs777184569 | 915 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2093232053 | 917 | L>P | No | TOPMed | |
rs765256087 | 918 | V>L | No |
ExAC TOPMed gnomAD |
|
COSM270937 COSM270938 |
919 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752809322 | 921 | S>I | No |
ExAC TOPMed gnomAD |
|
rs752809322 | 921 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1022349879 | 922 | S>C | No | gnomAD | |
rs1022349879 | 922 | S>F | No | gnomAD | |
rs147315682 | 924 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 927 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 927 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs201657548 | 931 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs376556713 | 931 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs370659528 | 933 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2093233516 | 934 | E>Q | No | Ensembl | |
rs2093233799 | 938 | L>V | No | Ensembl | |
COSM3940250 COSM3940249 rs1005052466 |
939 | A>T | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs2093234174 | 940 | I>V | No | Ensembl | |
rs2093234393 COSM727785 COSM727786 |
941 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs2093389130 | 945 | H>N | No | Ensembl | |
rs1560927763 | 946 | A>D | No | Ensembl | |
COSM3057591 COSM3057590 rs2093389397 |
948 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1170244221 | 950 | Q>K | No |
TOPMed gnomAD |
|
rs879442495 | 950 | Q>L | No | TOPMed | |
rs532130353 | 952 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs766431991 | 954 | Q>E | No |
ExAC gnomAD |
|
COSM581299 COSM581300 |
954 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2093390050 | 956 | A>T | No | TOPMed | |
rs1485607922 | 959 | V>I | No | TOPMed | |
rs148718158 | 960 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1001691505 | 964 | E>K | No |
TOPMed gnomAD |
|
rs142259596 | 965 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1217616932 | 968 | Q>K | No |
TOPMed gnomAD |
|
rs2093390952 | 969 | A>V | No | TOPMed | |
COSM4760953 COSM4760954 rs758082655 |
970 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM1418489 COSM1418490 rs746247182 |
973 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs139299626 | 974 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1371798406 | 975 | D>G | No | gnomAD | |
rs1188042863 | 975 | D>N | No | gnomAD | |
rs774545116 | 978 | R>Q | No | Ensembl | |
COSM245116 COSM245117 rs1255029861 |
978 | R>W | prostate [Cosmic] | No |
cosmic curated TOPMed gnomAD |
TCGA novel | 979 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 979 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774513024 | 980 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs761899767 | 984 | V>L | No |
ExAC gnomAD |
|
rs1576899617 | 985 | A>P | No | Ensembl | |
COSM1037468 rs1466309558 COSM1037466 |
985 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs767857150 | 986 | L>F | No |
ExAC gnomAD |
|
rs1402769598 | 986 | L>R | No |
TOPMed gnomAD |
|
rs1294257800 | 987 | H>L | No |
TOPMed gnomAD |
|
rs760601629 | 987 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs753754354 | 991 | L>F | No |
ExAC TOPMed gnomAD |
|
rs2093393060 | 992 | M>I | No | TOPMed | |
rs1469104497 | 995 | M>I | No |
TOPMed gnomAD |
|
rs1201974871 | 995 | M>T | No | gnomAD | |
rs2093393372 | 997 | D>V | No | TOPMed | |
rs764616767 | 998 | R>Q | No |
ExAC gnomAD |
|
rs1265188394 | 998 | R>W | No |
TOPMed gnomAD |
|
rs369397521 | 999 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1576900023 | 1001 | L>M | No | Ensembl | |
COSM1418491 COSM1418492 |
1001 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1576900090 | 1002 | V>G | No | Ensembl | |
rs757990788 | 1002 | V>I | No |
ExAC gnomAD |
|
rs1449234865 | 1003 | N>S | No | gnomAD | |
rs1194597403 | 1004 | A>T | No | gnomAD | |
rs2093394279 | 1006 | V>A | No | gnomAD | |
rs1456728329 | 1008 | F>S | No | gnomAD | |
rs1259621731 | 1012 | S>C | No |
TOPMed gnomAD |
|
COSM3586590 COSM3586589 |
1013 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1377398299 | 1014 | Q>R | No | gnomAD | |
rs776504013 | 1016 | C>Y | No |
ExAC gnomAD |
|
rs374025165 | 1018 | V>A | No |
ESP ExAC gnomAD |
|
rs2093571091 | 1020 | E>D | No | Ensembl | |
TCGA novel | 1020 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2093571174 | 1021 | S>C | No | Ensembl | |
rs748844790 | 1026 | Y>H | No | Ensembl | |
rs547990015 | 1027 | R>Q | No | gnomAD | |
rs765238695 | 1027 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
TCGA novel | 1028 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1237806 COSM1237805 |
1029 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2093571490 | 1030 | E>K | No | Ensembl | |
rs922061791 | 1031 | D>H | No |
TOPMed gnomAD |
|
rs922061791 | 1031 | D>N | No |
TOPMed gnomAD |
|
rs922061791 | 1031 | D>Y | No |
TOPMed gnomAD |
|
rs1304729291 | 1033 | C>* | No | gnomAD | |
rs1560944122 | 1033 | C>R | No | Ensembl | |
rs752139764 | 1033 | C>Y | No |
ExAC gnomAD |
|
rs762520416 | 1034 | G>S | No |
ExAC gnomAD |
|
rs763705498 | 1036 | R>G | No |
ExAC TOPMed gnomAD |
|
rs756927820 | 1036 | R>Q | No |
ExAC gnomAD |
|
rs754233348 | 1037 | D>N | No |
ExAC gnomAD |
|
rs1244106396 | 1041 | P>L | No |
TOPMed gnomAD |
|
rs987462182 | 1041 | P>S | No |
TOPMed gnomAD |
|
rs748232934 | 1043 | A>T | No |
ExAC gnomAD |
|
rs1482962032 | 1044 | E>D | No |
TOPMed gnomAD |
|
COSM3426987 COSM3426988 |
1045 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2093572946 | 1046 | D>N | No |
TOPMed gnomAD |
|
rs2093572946 | 1046 | D>Y | No |
TOPMed gnomAD |
|
rs772315044 | 1047 | H>P | No |
ExAC gnomAD |
|
rs1420514784 | 1050 | P>H | No | gnomAD | |
TCGA novel | 1051 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1051 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs183838131 | 1060 | E>Q | No |
1000Genomes gnomAD |
|
rs2093573484 | 1060 | E>V | No | Ensembl | |
COSM1037471 COSM1037469 |
1061 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1063 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2150597235 | 1065 | A>S | No | Ensembl | |
rs745622605 | 1067 | T>S | No |
ExAC gnomAD |
|
rs867737888 | 1069 | A>T | No | Ensembl | |
rs1308494409 | 1070 | R>W | No | gnomAD | |
rs143413360 | 1074 | E>D | No |
1000Genomes ExAC gnomAD |
|
rs1576968912 | 1075 | V>G | No | TOPMed | |
rs1204959221 | 1075 | V>M | No | gnomAD | |
COSM6095921 COSM6095922 |
1078 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4112958 COSM4112957 |
1078 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2093683135 | 1080 | I>N | No | TOPMed | |
rs2093683264 | 1082 | R>K | No | Ensembl | |
rs772957046 | 1083 | N>D | No |
ExAC gnomAD |
|
rs2150597778 | 1085 | V>I | No | Ensembl | |
rs1175482214 | 1086 | S>G | No | gnomAD | |
rs2093683640 | 1086 | S>T | No | TOPMed | |
rs1427389692 | 1088 | P>A | No |
TOPMed gnomAD |
|
rs1427389692 | 1088 | P>T | No |
TOPMed gnomAD |
|
rs2093683850 | 1089 | S>G | No | TOPMed | |
rs1471080700 | 1089 | S>T | No |
TOPMed gnomAD |
|
rs753140895 | 1091 | A>P | No |
ExAC TOPMed gnomAD |
|
rs753140895 | 1091 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1373231312 | 1093 | H>L | No |
TOPMed gnomAD |
|
rs757401330 | 1095 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs375108520 | 1095 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs781249162 | 1096 | G>E | No |
ExAC gnomAD |
|
rs1403752792 | 1098 | E>K | No |
TOPMed gnomAD |
|
rs756323157 | 1100 | Q>H | No |
ExAC gnomAD |
|
rs1424573484 | 1103 | A>V | No | gnomAD | |
rs1456266446 | 1104 | I>V | No | gnomAD | |
rs2150670853 | 1106 | S>C | No | Ensembl | |
rs1367817563 | 1106 | S>N | No | gnomAD | |
TCGA novel | 1108 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1109 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2093833696 | 1111 | R>K | No | TOPMed | |
rs77832285 | 1112 | E>* | No | Ensembl | |
COSM3586592 COSM3586591 |
1112 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM5478491 COSM5478490 |
1114 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3660149 COSM3660150 rs375081975 |
1114 | R>H | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs954989552 | 1115 | V>L | No |
TOPMed gnomAD |
|
rs954989552 COSM1418496 COSM1418495 |
1115 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1266832189 | 1117 | H>R | No | TOPMed | |
rs778799753 | 1117 | H>Y | No |
ExAC gnomAD |
|
TCGA novel | 1118 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs748065907 | 1120 | T>A | No |
ExAC TOPMed gnomAD |
|
COSM42874 COSM3586593 |
1120 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1377057020 | 1123 | K>R | No | gnomAD | |
rs987606026 | 1124 | R>L | No |
TOPMed gnomAD |
|
COSM1719195 rs987606026 COSM1719194 |
1124 | R>Q | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1245112892 COSM1418498 COSM1418497 |
1124 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs777267764 | 1125 | R>Q | No |
ExAC TOPMed gnomAD |
|
COSM1165250 COSM1165251 rs771930077 |
1125 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1577005164 | 1126 | L>V | No | Ensembl | |
rs1238845751 | 1131 | Q>E | No |
TOPMed gnomAD |
|
rs1560969490 | 1133 | V>M | No | Ensembl | |
rs1577005307 | 1134 | V>G | No | Ensembl | |
rs776467881 | 1135 | F>L | No |
ExAC gnomAD |
|
rs769093448 | 1137 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs373031459 | 1137 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs373031459 | 1137 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs376875291 | 1139 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
COSM71242 | 1142 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4583869 COSM4583870 rs762144643 |
1142 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs773631408 | 1143 | L>F | No |
ExAC gnomAD |
|
rs1221976524 | 1144 | D>E | No | gnomAD | |
rs760720956 | 1144 | D>N | No |
ExAC gnomAD |
|
rs760720956 | 1144 | D>Y | No |
ExAC gnomAD |
|
COSM3846057 COSM3846056 |
1146 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs766396402 | 1148 | E>K | No |
ExAC TOPMed gnomAD |
|
rs766396402 | 1148 | E>Q | No |
ExAC TOPMed gnomAD |
|
COSM4934242 COSM4934241 |
1154 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM727778 COSM727777 |
1156 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150680189 | 1157 | H>Y | No | Ensembl | |
rs1204661866 | 1158 | T>A | No | gnomAD | |
rs890446175 | 1159 | S>F | No | TOPMed | |
rs1449245214 | 1160 | T>S | No |
TOPMed gnomAD |
|
rs2093855567 | 1162 | E>K | No |
TOPMed gnomAD |
|
rs199727098 | 1163 | T>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs765387746 | 1164 | T>A | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs2093855961 |
1165 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs201706242 | 1166 | E>G | No | 1000Genomes | |
rs758171598 | 1167 | T>A | No |
ExAC TOPMed gnomAD |
|
rs2093856280 | 1167 | T>I | No |
TOPMed gnomAD |
|
TCGA novel | 1167 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2093856349 | 1168 | Q>H | No | TOPMed | |
rs2093856407 | 1169 | E>K | No | TOPMed | |
rs1466070030 | 1170 | L>R | No | gnomAD | |
TCGA novel | 1172 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2093856676 | 1173 | E>A | No | Ensembl | |
COSM1757064 rs1382621747 COSM1757065 |
1174 | Y>C | urinary_tract [Cosmic] | No |
cosmic curated gnomAD |
TCGA novel | 1175 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs751497689 | 1175 | G>R | No |
ExAC gnomAD |
|
rs1298568038 | 1176 | E>A | No | gnomAD | |
rs757292256 | 1176 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
rs1403300510 | 1178 | R>G | No | gnomAD | |
rs745386897 | 1178 | R>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1179 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1331920809 | 1180 | P>S | No |
TOPMed gnomAD |
|
rs2093857425 | 1181 | A>S | No | TOPMed | |
TCGA novel | 1183 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1357956440 | 1184 | T>I | No | gnomAD | |
rs189586882 | 1186 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM1693374 COSM1693373 |
1186 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2107563870 | 1186 | E>Q | No | Ensembl | |
rs374383575 | 1189 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs748843236 | 1190 | L>F | No | ExAC | |
rs2059191168 | 1192 | I>V | No | TOPMed | |
COSM6095919 COSM6095920 |
1194 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1488601534 | 1194 | L>R | No | gnomAD | |
rs754690715 | 1195 | A>G | No |
ExAC TOPMed gnomAD |
|
rs747383247 | 1196 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1442702708 | 1200 | E>D | No |
TOPMed gnomAD |
|
rs771832826 | 1202 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1295872116 | 1204 | I>L | No | gnomAD | |
rs1166640661 | 1206 | A>S | No |
TOPMed gnomAD |
|
rs771412100 | 1206 | A>V | No |
ExAC TOPMed gnomAD |
|
rs139468141 COSM3057631 COSM3057630 |
1207 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs2059194637 | 1213 | V>A | No | gnomAD | |
rs201801993 COSM1162738 COSM1162737 |
1214 | T>N | pancreas [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
RCV000884695 rs148828057 |
1215 | T>K | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148828057 | 1215 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1381138640 | 1216 | V>M | No | gnomAD | |
rs1230600629 | 1218 | K>E | No | gnomAD | |
rs2059196559 | 1218 | K>T | No | Ensembl | |
COSM4112960 COSM4112959 |
1219 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1268621262 | 1224 | S>Y | No | TOPMed | |
rs368438979 | 1227 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM1308504 COSM1308505 |
1228 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3767218 COSM3767219 rs767529555 |
1231 | R>Q | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs750434014 | 1237 | A>T | No |
ExAC gnomAD |
|
rs2059198951 | 1241 | N>H | No | Ensembl | |
rs1459913150 | 1241 | N>S | No | gnomAD | |
rs760822519 | 1242 | T>I | No | Ensembl | |
rs760822519 | 1242 | T>K | No | Ensembl | |
rs750813370 | 1244 | D>N | No |
ExAC gnomAD |
|
rs750813370 | 1244 | D>Y | No |
ExAC gnomAD |
|
COSM275619 COSM275618 |
1247 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs866766522 | 1249 | E>K | No | Ensembl | |
TCGA novel | 1249 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs756566236 | 1250 | L>M | No |
ExAC TOPMed gnomAD |
|
rs2107591156 | 1251 | D>N | No | Ensembl | |
rs1400192975 | 1252 | I>M | No | gnomAD | |
rs1248551186 | 1253 | I>F | No |
TOPMed gnomAD |
|
rs980944354 | 1254 | P>L | No | Ensembl | |
rs749299134 | 1255 | A>S | No |
ExAC gnomAD |
|
rs749299134 | 1255 | A>T | No |
ExAC gnomAD |
|
rs768903468 | 1255 | A>V | No |
ExAC gnomAD |
|
rs1014023160 | 1256 | S>R | No |
TOPMed gnomAD |
|
rs1220400741 | 1256 | S>T | No |
TOPMed gnomAD |
|
COSM3426989 COSM3426990 rs867536649 |
1258 | S>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs867536649 | 1258 | S>W | No | gnomAD | |
rs1287866570 | 1259 | D>N | No | gnomAD | |
rs1221493763 | 1260 | R>P | No |
TOPMed gnomAD |
|
rs1221493763 | 1260 | R>Q | No |
TOPMed gnomAD |
|
COSM3586596 COSM3586597 rs748339297 |
1260 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2059332346 | 1261 | E>D | No |
TOPMed gnomAD |
|
rs2059332494 | 1262 | V>G | No | Ensembl | |
rs772820320 | 1265 | R>P | No |
ExAC gnomAD |
|
COSM1243329 COSM1243330 rs772820320 |
1265 | R>Q | oesophagus [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1025185719 COSM4973401 COSM4973400 |
1265 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs770766778 | 1266 | D>E | No |
ExAC TOPMed gnomAD |
|
rs776667972 | 1267 | A>G | No |
ExAC TOPMed gnomAD |
|
rs796691406 | 1267 | A>T | No | gnomAD | |
rs561361571 | 1268 | N>S | No |
TOPMed gnomAD |
|
rs1361773277 | 1269 | H>N | No | gnomAD | |
rs1361773277 | 1269 | H>Y | No | gnomAD | |
rs148014867 | 1270 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs148014867 | 1270 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs143519745 | 1271 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs200906284 | 1272 | N>D | No |
1000Genomes ExAC gnomAD |
|
rs1274912240 | 1272 | N>S | No |
TOPMed gnomAD |
|
rs778311282 | 1273 | E>* | No |
ExAC TOPMed gnomAD |
|
rs778311282 | 1273 | E>K | No |
ExAC TOPMed gnomAD |
|
rs147099139 | 1274 | E>D | No |
ESP TOPMed gnomAD |
|
rs999815040 | 1275 | K>Q | No | TOPMed | |
rs899670932 | 1276 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM4491568 rs1038128039 COSM4491569 |
1276 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs750752559 | 1279 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1032511540 | 1280 | R>Q | No | gnomAD | |
rs1221373420 | 1280 | R>W | No | gnomAD | |
rs2059336569 | 1281 | K>R | No | Ensembl | |
rs1395347752 | 1283 | E>D | No | gnomAD | |
rs1332061896 | 1284 | F>L | No | gnomAD | |
TCGA novel | 1286 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1342216807 | 1286 | M>V | No | gnomAD | |
rs2059902377 | 1287 | A>T | No | TOPMed | |
rs766722901 | 1290 | L>F | No |
ExAC gnomAD |
|
TCGA novel | 1290 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4112962 rs1220758686 COSM4112961 |
1291 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA Cosmic |
COSM1037480 COSM1037478 |
1295 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1322971246 | 1297 | V>A | No | gnomAD | |
rs1198834498 | 1298 | R>S | No | gnomAD | |
rs1701222700 | 1300 | L>S | No | TOPMed | |
rs2059904023 | 1301 | H>Y | No | Ensembl | |
rs2059904376 | 1304 | L>V | No | TOPMed | |
rs760043740 | 1306 | T>I | No |
ExAC gnomAD |
|
COSM3586598 COSM3586599 |
1309 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2059951798 | 1311 | M>K | No | Ensembl | |
rs1385366054 | 1312 | T>I | No | gnomAD | |
rs1325583270 | 1313 | S>C | No |
TOPMed gnomAD |
|
rs1325583270 | 1313 | S>G | No |
TOPMed gnomAD |
|
rs764170666 | 1313 | S>N | No |
ExAC gnomAD |
|
rs1044941148 | 1314 | G>S | No | Ensembl | |
rs1307640945 | 1315 | V>A | No | gnomAD | |
rs751605897 | 1315 | V>M | No |
ExAC gnomAD |
|
rs2059953081 | 1316 | E>A | No | TOPMed | |
rs779848977 | 1319 | P>R | No |
ExAC gnomAD |
|
rs369756232 | 1319 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs551346771 | 1320 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1215771573 | 1320 | P>L | No | Ensembl | |
rs551346771 | 1320 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs551346771 | 1320 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1451637199 | 1321 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1055464623 | 1324 | N>K | No |
TOPMed gnomAD |
|
rs747665988 | 1324 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2289838 VAR_020192 |
1326 | E>D | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2059955391 | 1326 | E>K | No | TOPMed | |
COSM3800982 COSM3800981 |
1326 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3586602 COSM3586603 |
1326 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1456550513 | 1327 | H>P | No | gnomAD | |
TCGA novel | 1327 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs770232422 | 1329 | I>V | No |
ExAC gnomAD |
|
COSM1197494 COSM1197493 rs916941927 |
1331 | G>C | lung [Cosmic] | No |
cosmic curated TOPMed |
rs949934663 | 1331 | G>V | No | TOPMed | |
rs1448245114 | 1335 | E>D | No | gnomAD | |
rs1447772363 | 1335 | E>G | No |
TOPMed gnomAD |
|
COSM3914781 COSM3914780 rs139954729 |
1338 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2059959128 TCGA novel |
1339 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
TCGA novel | 1339 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2059959364 | 1340 | H>Y | No | TOPMed | |
rs1178485531 | 1341 | N>K | No | gnomAD | |
rs149360410 | 1341 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs760825511 | 1343 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2061277151 | 1344 | F>S | No | Ensembl | |
TCGA novel | 1349 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1382006517 | 1352 | E>K | No | Ensembl | |
rs2108020021 | 1356 | E>D | No | Ensembl | |
rs2061279206 | 1358 | V>L | No | TOPMed | |
COSM3914783 COSM3914782 |
1359 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1362 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs144667540 | 1363 | V>I | No |
ESP TOPMed gnomAD |
|
rs2061515800 | 1367 | D>E | No | Ensembl | |
rs1292415250 | 1368 | K>T | No |
TOPMed gnomAD |
|
rs2061516203 | 1370 | Q>R | No | Ensembl | |
rs2061516741 | 1373 | V>I | No | gnomAD | |
rs773264205 | 1374 | T>A | No |
ExAC gnomAD |
|
COSM4401289 COSM4401288 |
1377 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2061517167 | 1378 | N>D | No | TOPMed | |
rs2061517670 TCGA novel |
1380 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1257325588 | 1381 | D>N | No | gnomAD | |
rs145688850 | 1383 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM6095917 COSM6095918 |
1384 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2061518580 | 1384 | Q>R | No |
TOPMed gnomAD |
|
TCGA novel | 1387 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs866590966 | 1388 | E>K | No | Ensembl | |
rs74389479 | 1389 | H>N | No | Ensembl | |
COSM1211330 rs759826348 COSM1211329 |
1390 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs764898643 | 1393 | F>Y | No |
ExAC TOPMed gnomAD |
|
rs752539205 | 1395 | D>E | No |
ExAC TOPMed gnomAD |
|
rs2061520105 | 1395 | D>Y | No | TOPMed | |
rs2108252781 | 1396 | E>V | No | Ensembl | |
rs2062129759 | 1397 | I>L | No | TOPMed | |
rs759608802 | 1397 | I>T | No |
ExAC TOPMed gnomAD |
|
rs770113483 | 1398 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs200295956 | 1400 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200295956 | 1400 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3846060 COSM3846061 rs775145320 |
1400 | R>W | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM6095916 COSM6095915 |
1402 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1693375 COSM1693376 |
1406 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1048418653 | 1410 | Y>H | No | TOPMed | |
rs2062132467 | 1413 | K>Q | No | Ensembl | |
rs761877603 | 1417 | R>K | No |
ExAC gnomAD |
|
TCGA novel | 1420 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs755706470 | 1423 | L>M | No |
ExAC TOPMed gnomAD |
|
rs778043500 | 1428 | L>I | No |
ExAC gnomAD |
|
rs781743389 | 1437 | G>R | No |
ExAC gnomAD |
|
rs745913088 | 1440 | K>R | No | ExAC | |
COSM4402950 COSM4402951 |
1441 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1443 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1450 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1277059683 | 1453 | A>V | No | gnomAD | |
rs774277207 | 1455 | D>G | No |
ExAC gnomAD |
|
COSM3914787 COSM3914786 |
1455 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1284394701 | 1457 | M>I | No | gnomAD | |
rs748039238 | 1457 | M>V | No |
ExAC gnomAD |
|
rs773247077 | 1459 | V>L | No |
ExAC gnomAD |
|
rs1262030959 | 1460 | S>N | No | gnomAD | |
rs1450490876 | 1461 | M>R | No | gnomAD | |
TCGA novel | 1466 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1561116630 | 1466 | D>N | No | Ensembl | |
rs1561116630 | 1466 | D>Y | No | Ensembl | |
rs753934958 | 1467 | E>K | No |
ExAC gnomAD |
|
rs753934958 | 1467 | E>Q | No |
ExAC gnomAD |
|
rs1426047052 | 1470 | D>Y | No | TOPMed | |
rs1294563766 | 1471 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1334882900 | 1472 | Q>R | No |
TOPMed gnomAD |
|
rs1197488396 | 1473 | G>E | No | gnomAD | |
rs2063069457 | 1473 | G>R | No | gnomAD | |
rs779153128 | 1474 | E>V | No |
ExAC gnomAD |
|
rs1481612331 | 1476 | I>V | No | gnomAD | |
rs752921197 | 1477 | L>I | No |
ExAC gnomAD |
|
rs1255270266 | 1486 | P>A | No | gnomAD | |
rs758552417 | 1486 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs746838131 | 1488 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2063072134 COSM1037483 COSM1037481 |
1491 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs781157532 | 1491 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM1037487 COSM1037489 |
1494 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1037484 rs2063072358 COSM1037486 |
1494 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1577376236 | 1495 | E>G | No | Ensembl | |
rs774869083 | 1496 | R>Q | No |
ExAC gnomAD |
|
rs1302616639 | 1496 | R>W | No |
TOPMed gnomAD |
|
rs1264301330 | 1497 | H>D | No | Ensembl | |
rs1264301330 | 1497 | H>Y | No | Ensembl | |
rs761165982 | 1503 | I>T | No | ExAC | |
rs773625957 | 1503 | I>V | No |
ExAC gnomAD |
|
rs2063075269 | 1504 | S>A | No | Ensembl | |
rs866008860 | 1506 | V>I | No | gnomAD | |
COSM3800984 COSM3800983 |
1508 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752730760 | 1512 | K>R | No |
ExAC gnomAD |
|
COSM3586611 COSM3586610 |
1514 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758633178 | 1515 | S>T | No |
ExAC gnomAD |
|
rs529612300 | 1517 | H>R | No |
1000Genomes ExAC gnomAD |
|
rs751347515 | 1517 | H>Y | No |
ExAC gnomAD |
|
rs1421803746 | 1518 | T>A | No |
TOPMed gnomAD |
|
rs780998165 COSM460929 COSM460928 |
1518 | T>M | cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1421803746 | 1518 | T>P | No |
TOPMed gnomAD |
|
rs1376459832 | 1519 | K>I | No | gnomAD | |
COSM3586612 COSM3586613 |
1530 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1238125303 | 1532 | G>C | No | gnomAD | |
rs1179323692 | 1533 | V>L | No | gnomAD | |
rs1179323692 | 1533 | V>M | No | gnomAD | |
COSM4112966 COSM4112965 |
1534 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1163436733 | 1537 | V>L | No |
TOPMed gnomAD |
|
rs1163436733 | 1537 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs942398849 | 1540 | D>E | No |
TOPMed gnomAD |
|
rs868845385 | 1540 | D>N | No | Ensembl | |
rs2063143512 | 1541 | P>A | No | TOPMed | |
COSM3914789 COSM3914788 |
1541 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1542 | C>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs774429172 | 1545 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM1327915 COSM1327914 |
1549 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762012859 | 1549 | G>R | No |
ExAC gnomAD |
|
rs373617742 | 1550 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs750192369 | 1550 | R>H | No |
ExAC gnomAD |
|
rs1291696798 | 1551 | T>I | No |
TOPMed gnomAD |
|
rs1577381973 | 1551 | T>P | No | Ensembl | |
rs2108443806 | 1559 | V>A | No | Ensembl | |
rs753674413 | 1559 | V>L | No |
ExAC gnomAD |
|
rs753674413 | 1559 | V>M | No |
ExAC gnomAD |
|
TCGA novel | 1564 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM6162906 rs1033137258 COSM1536149 COSM1536150 COSM6162905 |
1564 | N>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs760985257 | 1565 | I>T | No |
ExAC gnomAD |
|
rs766018442 | 1567 | T>I | No |
ExAC gnomAD |
|
rs759377501 | 1569 | Q>H | No |
ExAC gnomAD |
|
rs1428416626 | 1569 | Q>R | No | TOPMed | |
COSM1037493 rs1433794431 COSM1037495 |
1573 | K>E | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1377489600 | 1574 | N>S | No | gnomAD | |
rs1415679291 | 1575 | I>V | No |
TOPMed gnomAD |
|
rs201046827 COSM3586614 COSM3586615 |
1576 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs752223174 | 1576 | R>L | No |
ExAC gnomAD |
|
rs752223174 | 1576 | R>Q | No |
ExAC gnomAD |
|
rs2063312108 | 1577 | E>D | No | TOPMed | |
rs2063312413 | 1578 | V>L | No | TOPMed | |
rs772381582 | 1579 | I>V | No | Ensembl | |
rs1420922134 | 1581 | E>Q | No |
TOPMed gnomAD |
|
rs1211103304 | 1584 | I>V | No | gnomAD | |
rs933531951 | 1585 | H>Q | No | TOPMed | |
rs1260633172 | 1587 | K>E | No | gnomAD | |
rs1062749 | 1588 | G>E | No | Ensembl | |
rs1577395393 | 1589 | A>T | No | Ensembl | |
TCGA novel | 1590 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2063315311 | 1592 | E>* | No | TOPMed | |
rs1444718625 | 1594 | L>F | No |
TOPMed gnomAD |
|
rs1242625916 | 1598 | K>E | No | gnomAD | |
rs2063316404 | 1598 | K>R | No | TOPMed | |
COSM1418501 COSM1418502 |
1599 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758030428 | 1606 | N>S | No |
ExAC TOPMed gnomAD |
|
COSM1536148 COSM1536147 COSM6162904 rs2063317509 COSM6162903 |
1607 | S>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic TOPMed gnomAD |
rs2063317509 | 1607 | S>T | No |
TOPMed gnomAD |
|
TCGA novel | 1609 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1274907269 | 1610 | D>G | No | gnomAD | |
rs1274907269 | 1610 | D>V | No | gnomAD | |
rs1161615057 | 1611 | G>R | No | gnomAD | |
rs1468485736 | 1612 | V>G | No | Ensembl | |
rs1577440555 | 1613 | E>G | No | Ensembl | |
rs1577440650 | 1614 | D>G | No | Ensembl | |
rs867890492 | 1614 | D>N | No | Ensembl | |
COSM4112969 COSM4112968 rs2063846138 |
1619 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1417424509 | 1620 | D>A | No | gnomAD | |
rs1417424509 COSM4837420 COSM4837421 |
1620 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs780940425 COSM479334 COSM479335 |
1620 | D>N | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1417424509 | 1620 | D>V | No | gnomAD | |
rs1577440877 | 1622 | S>G | No | Ensembl | |
rs754133728 | 1622 | S>N | No |
ExAC TOPMed gnomAD |
|
rs755291078 | 1623 | S>T | No |
ExAC gnomAD |
|
rs2063847788 | 1625 | P>L | No | gnomAD | |
rs2063847788 | 1625 | P>Q | No | gnomAD | |
rs2063849172 | 1627 | T>P | No | Ensembl | |
rs779284875 | 1627 | T>S | No |
ExAC gnomAD |
|
rs772578254 | 1629 | S>C | No |
ExAC TOPMed gnomAD |
|
rs772578254 | 1629 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs747178985 | 1630 | I>F | No |
ExAC gnomAD |
|
rs747178985 | 1630 | I>L | No |
ExAC gnomAD |
|
rs369574031 | 1631 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs369574031 | 1631 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2063850980 | 1632 | S>C | No | TOPMed | |
rs1354441367 | 1633 | R>M | No | gnomAD | |
rs2063851929 | 1635 | S>F | No | TOPMed | |
rs2063852167 | 1640 | D>G | No | TOPMed | |
rs2063852397 | 1641 | S>G | No | Ensembl | |
rs746100366 | 1641 | S>R | No |
ExAC gnomAD |
|
TCGA novel | 1642 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs186739814 | 1644 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs186739814 | 1644 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1172262971 | 1645 | S>F | No | Ensembl | |
rs1448856576 | 1647 | G>R | No | gnomAD | |
rs761264541 | 1648 | C>Y | No |
ExAC gnomAD |
|
rs368090212 | 1649 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs755227447 | 1650 | L>M | No |
ExAC TOPMed gnomAD |
|
rs1342404641 | 1650 | L>P | No | gnomAD | |
TCGA novel | 1650 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072237556 | 1651 | T>R | No | gnomAD | |
rs779047572 | 1654 | L>F | No |
ExAC TOPMed gnomAD |
|
rs779047572 | 1654 | L>I | No |
ExAC TOPMed gnomAD |
|
rs1277783302 | 1655 | Q>R | No |
TOPMed gnomAD |
|
rs1473708533 | 1656 | D>N | No | Ensembl | |
rs2072238872 | 1658 | S>N | No |
TOPMed gnomAD |
|
rs976640084 | 1659 | A>T | No |
TOPMed gnomAD |
|
rs769031992 COSM3057683 |
1659 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs777576720 | 1660 | G>C | No |
ExAC TOPMed gnomAD |
|
rs777576720 | 1660 | G>R | No |
ExAC TOPMed gnomAD |
|
rs781613761 | 1662 | S>R | No |
TOPMed gnomAD |
|
rs539171441 | 1664 | E>K | No | gnomAD | |
rs576618251 | 1667 | I>L | No |
1000Genomes ExAC gnomAD |
|
rs1404637724 | 1667 | I>S | No | gnomAD | |
rs2072241783 | 1668 | Q>K | No | Ensembl | |
rs2072242014 | 1668 | Q>L | No | Ensembl | |
rs757199913 | 1669 | V>M | No |
ExAC gnomAD |
|
rs2072242784 | 1670 | G>E | No | Ensembl | |
COSM3586623 | 1670 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3927344 rs375684753 |
1672 | T>M | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs375684753 | 1672 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3586624 rs774954951 |
1673 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1040378811 | 1674 | E>Q | No |
TOPMed gnomAD |
|
rs937409791 | 1676 | L>P | No | Ensembl | |
rs748997964 | 1677 | E>G | No |
ExAC gnomAD |
|
rs372360457 | 1678 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368179672 | 1678 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
rs2072245965 | 1679 | P>S | No | TOPMed | |
rs544705578 | 1680 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM727771 | 1681 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3914790 rs776744233 |
1681 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs752824553 | 1682 | R>P | No |
ExAC TOPMed gnomAD |
|
rs752824553 | 1682 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM1418505 rs748367644 |
1682 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs758651833 | 1683 | P>S | No |
ExAC gnomAD |
|
rs1478502383 | 1684 | G>D | No | gnomAD | |
rs763819696 | 1684 | G>R | No |
ExAC TOPMed gnomAD |
|
rs1158043091 | 1686 | C>R | No | gnomAD | |
rs745837958 | 1689 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM1037499 rs1439137300 |
1689 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs202002851 | 1690 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1192024161 | 1691 | T>I | No | Ensembl | |
COSM1757068 rs368604430 |
1692 | E>K | urinary_tract [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs371408668 | 1693 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374734060 | 1693 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs371408668 | 1693 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1468030129 | 1694 | S>G | No | gnomAD | |
rs747421477 | 1694 | S>N | No |
ExAC gnomAD |
|
rs771544833 | 1694 | S>R | No |
ExAC TOPMed gnomAD |
|
rs78202770 | 1695 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs78202770 | 1695 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1362281273 | 1696 | P>S | No | gnomAD | |
rs1366431825 | 1697 | L>F | No | Ensembl | |
rs1309846713 | 1698 | E>K | No |
TOPMed gnomAD |
|
rs2072254524 | 1698 | E>V | No | Ensembl | |
rs775653956 | 1699 | G>D | No |
ExAC TOPMed gnomAD |
|
RCV001527348 rs775653956 |
1699 | G>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 1701 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1484531 | 1702 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764339645 | 1702 | P>S | No |
ExAC gnomAD |
|
rs764339645 | 1702 | P>T | No |
ExAC gnomAD |
|
rs1358010223 COSM6095914 COSM581288 |
1703 | S>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs540920510 | 1705 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs767329081 | 1706 | L>P | No |
ExAC gnomAD |
|
rs1381969149 | 1706 | L>V | No | TOPMed | |
rs138275414 | 1710 | H>Y | No | Ensembl | |
rs868216680 | 1711 | S>F | No | Ensembl | |
COSM6162902 | 1712 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs369690103 | 1712 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1327700759 | 1714 | S>N | No | gnomAD | |
rs373473712 | 1714 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3057689 RCV001356442 rs201338676 |
1715 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs1334041254 | 1716 | E>A | No | gnomAD | |
rs145432562 | 1717 | M>L | No | Ensembl | |
rs2072260090 | 1717 | M>T | No | Ensembl | |
rs781624752 | 1718 | D>G | No |
ExAC TOPMed gnomAD |
|
rs771385123 | 1718 | D>Y | No |
ExAC gnomAD |
|
rs746304761 | 1721 | F>L | No |
ExAC TOPMed gnomAD |
|
rs770391355 | 1722 | P>L | No |
1000Genomes ExAC gnomAD |
|
rs377555886 | 1723 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1186947816 | 1723 | L>S | No |
TOPMed gnomAD |
|
rs1186947816 | 1723 | L>W | No |
TOPMed gnomAD |
|
rs1182966361 | 1724 | V>M | No | gnomAD | |
rs769832888 | 1726 | D>V | No |
ExAC gnomAD |
|
rs775528206 | 1727 | A>T | No |
ExAC gnomAD |
|
rs902354649 | 1727 | A>V | No | TOPMed | |
rs1470478157 | 1728 | Y>H | No |
TOPMed gnomAD |
|
rs762802448 | 1730 | H>D | No |
ExAC TOPMed gnomAD |
|
rs762802448 | 1730 | H>N | No |
ExAC TOPMed gnomAD |
|
rs762802448 | 1730 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs2149830440 | 1732 | S>L | No | Ensembl | |
rs78260191 | 1733 | S>C | No | Ensembl | |
COSM1418507 rs78260191 COSM1418506 |
1733 | S>G | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
rs773788884 | 1733 | S>N | No |
ExAC gnomAD |
|
rs367903538 | 1733 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs200603405 | 1734 | E>K | No |
ExAC TOPMed gnomAD |
|
COSM1418508 COSM1418509 |
1735 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759848460 | 1736 | G>R | No |
ExAC gnomAD |
|
rs1389263997 | 1737 | G>C | No | gnomAD | |
rs765624928 | 1737 | G>D | No |
ExAC gnomAD |
|
COSM3586627 COSM3586626 |
1737 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs753183084 | 1738 | K>E | No |
ExAC TOPMed gnomAD |
|
rs1413978253 | 1738 | K>N | No | gnomAD | |
rs758846084 | 1738 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1419236808 | 1739 | S>F | No | gnomAD | |
rs145880669 | 1740 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs781614121 | 1742 | V>L | No |
ExAC TOPMed gnomAD |
|
rs781614121 | 1742 | V>M | No |
ExAC TOPMed gnomAD |
|
rs530459271 | 1743 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs768540751 | 1744 | N>S | No |
ExAC gnomAD |
|
rs768540751 | 1744 | N>T | No |
ExAC gnomAD |
|
rs2149831116 | 1746 | Q>P | No | Ensembl | |
rs2080894083 | 1747 | A>G | No | Ensembl | |
rs761274205 | 1747 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1372715997 | 1748 | Q>* | No | gnomAD | |
rs2080894747 | 1750 | S>F | No | TOPMed | |
TCGA novel | 1750 | S>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1578496982 | 1752 | N>T | No | Ensembl | |
rs1463368738 | 1753 | S>C | No |
TOPMed gnomAD |
|
rs1463368738 | 1753 | S>F | No |
TOPMed gnomAD |
|
rs1343154479 | 1754 | I>L | No |
TOPMed gnomAD |
|
rs1390990891 | 1754 | I>M | No | gnomAD | |
rs1190353237 | 1754 | I>T | No | gnomAD | |
rs760328888 | 1756 | S>I | No |
ExAC TOPMed gnomAD |
|
rs760328888 | 1756 | S>N | No |
ExAC TOPMed gnomAD |
|
rs753063935 | 1757 | S>C | No |
ExAC TOPMed gnomAD |
|
rs753063935 | 1757 | S>Y | No |
ExAC TOPMed gnomAD |
|
rs2080897596 | 1758 | P>A | No | gnomAD | |
rs145875180 | 1758 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751637871 | 1759 | G>R | No |
ExAC gnomAD |
|
TCGA novel | 1760 | P>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2149831796 | 1760 | P>S | No | Ensembl | |
rs1321688218 | 1761 | K>R | No | gnomAD | |
rs757363589 | 1762 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM312130 COSM312131 rs1232010971 |
1762 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1232010971 | 1762 | R>L | No | gnomAD | |
rs1232010971 | 1762 | R>P | No | gnomAD | |
rs2080899982 | 1765 | N>K | No | TOPMed | |
rs375116917 | 1767 | L>V | No |
ESP ExAC gnomAD |
|
rs1327051082 | 1769 | K>* | No | gnomAD | |
rs1327051082 | 1769 | K>E | No | gnomAD | |
rs754674010 | 1772 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs779890939 | 1772 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2080902154 | 1774 | P>S | No | Ensembl | |
COSM203253 COSM203254 rs1241849175 |
1776 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed |
COSM26590 COSM5439359 rs368927353 |
1776 | R>H | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1418511 COSM1418510 rs368927353 |
1776 | R>L | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1241849175 | 1776 | R>S | No |
1000Genomes TOPMed |
|
rs1410358187 | 1777 | R>Q | No | gnomAD | |
rs1158608009 | 1777 | R>W | No | gnomAD | |
TCGA novel | 1778 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs772725306 | 1780 | S>R | No | ExAC | |
rs770637844 | 1781 | G>R | No |
ExAC TOPMed gnomAD |
|
COSM727770 COSM727769 |
1782 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763277006 | 1783 | A>S | No |
ExAC TOPMed gnomAD |
|
COSM3586631 COSM3586630 rs2080905525 |
1785 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs558315603 | 1786 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1405000476 | 1787 | I>N | No | gnomAD | |
rs111238042 | 1790 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs752107116 | 1791 | K>N | No | Ensembl | |
rs2080906689 | 1792 | K>R | No | gnomAD | |
rs1326487416 | 1793 | V>A | No |
TOPMed gnomAD |
|
rs143334749 COSM1161442 COSM1161441 |
1794 | R>C | Variant assessed as Somatic; MODERATE impact. skin haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs148384593 | 1794 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs148384593 | 1794 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs1176240567 | 1795 | D>G | No | gnomAD | |
rs754110701 | 1795 | D>N | No |
ExAC TOPMed gnomAD |
|
rs2080909176 | 1796 | G>C | No | Ensembl | |
rs1292286156 | 1796 | G>V | No | gnomAD | |
rs778776390 | 1797 | R>G | No |
ExAC gnomAD |
|
rs201792111 | 1797 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM4112975 COSM4112976 rs201792111 |
1797 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs778776390 | 1797 | R>W | No |
ExAC gnomAD |
|
rs758392093 | 1799 | S>I | No |
ExAC TOPMed gnomAD |
|
rs2080910697 | 1800 | F>C | No | Ensembl | |
rs777264253 | 1803 | G>A | No |
ExAC gnomAD |
|
TCGA novel | 1804 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1407824265 | 1807 | P>A | No | TOPMed | |
rs543842940 | 1808 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs770595671 | 1808 | G>R | No |
ExAC TOPMed gnomAD |
|
rs2080912952 | 1809 | D>N | No | gnomAD | |
rs2080913288 | 1810 | E>K | No | TOPMed | |
rs1187453433 | 1811 | T>K | No |
TOPMed gnomAD |
|
rs2080914251 | 1813 | P>S | No | TOPMed | |
rs768843442 | 1815 | G>R | No |
ExAC gnomAD |
|
rs376017889 | 1817 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs768175968 | 1818 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2080915947 | 1819 | D>E | No | Ensembl | |
rs376876751 | 1819 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1383167036 | 1821 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1257169358 | 1822 | S>N | No |
TOPMed gnomAD |
|
rs1257169358 | 1822 | S>T | No |
TOPMed gnomAD |
|
rs1227408257 | 1824 | K>N | No | gnomAD | |
rs1266338957 | 1825 | G>D | No | gnomAD | |
rs2081065023 | 1826 | W>* | No | Ensembl | |
rs2081065240 | 1827 | G>S | No | Ensembl | |
TCGA novel | 1827 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2081065432 | 1828 | E>D | No | Ensembl | |
rs751723982 | 1831 | P>L | No |
ExAC TOPMed gnomAD |
|
COSM1037504 rs751723982 COSM1037502 |
1831 | P>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs2081066351 | 1832 | D>V | No | Ensembl | |
COSM1037507 COSM1037505 |
1834 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1482338156 | 1837 | T>S | No |
TOPMed gnomAD |
|
rs56375410 | 1845 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1187137767 | 1846 | F>L | No | gnomAD | |
rs371623469 | 1848 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1467572793 | 1849 | D>E | No |
TOPMed gnomAD |
|
rs575776197 | 1849 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs575776197 | 1849 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs544279723 | 1850 | P>A | No |
1000Genomes ExAC gnomAD |
|
rs2081069167 | 1850 | P>L | No |
TOPMed gnomAD |
|
TCGA novel | 1857 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2081450308 | 1857 | S>T | No | Ensembl | |
rs1317836614 | 1858 | S>F | No | gnomAD | |
rs1270580232 | 1858 | S>T | No |
TOPMed gnomAD |
|
rs778280357 | 1859 | L>W | No |
ExAC gnomAD |
|
COSM727768 COSM727767 |
1860 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs55755864 | 1861 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs565356196 | 1862 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs746394553 | 1863 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs534581552 | 1863 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2081455077 | 1864 | Q>E | No | TOPMed | |
COSM273651 COSM273650 |
1864 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775561803 | 1864 | Q>R | No |
ExAC gnomAD |
|
rs34157843 | 1865 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs34157843 | 1865 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1266199993 | 1865 | A>V | No | TOPMed | |
rs761619140 | 1868 | E>D | No |
ExAC gnomAD |
|
rs773995262 | 1868 | E>V | No |
ExAC gnomAD |
|
rs767244430 | 1870 | P>L | No |
ExAC TOPMed gnomAD |
|
rs767244430 | 1870 | P>R | No |
ExAC TOPMed gnomAD |
|
rs1304009551 | 1870 | P>S | No | gnomAD | |
rs1408093008 | 1871 | T>A | No | gnomAD | |
rs148492046 | 1871 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs2081459813 | 1872 | A>T | No | TOPMed | |
rs1214010728 | 1873 | A>T | No | TOPMed | |
TCGA novel | 1873 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1316711148 | 1874 | D>N | No | Ensembl | |
rs760698252 | 1875 | L>F | No |
ExAC TOPMed gnomAD |
|
rs753467573 | 1876 | V>A | No |
ExAC gnomAD |
|
rs1561488984 | 1876 | V>I | No | Ensembl | |
rs1561488984 | 1876 | V>L | No | Ensembl | |
rs142702465 | 1877 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs150997940 | 1879 | I>T | No |
ESP TOPMed |
|
rs764993437 | 1879 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2081463404 | 1882 | L>F | No | Ensembl | |
rs1578537821 | 1883 | V>A | No | Ensembl | |
rs2081463750 | 1884 | K>R | No | Ensembl | |
rs1482437325 | 1886 | K>E | No |
TOPMed gnomAD |
|
COSM1536141 COSM1536142 rs116780710 |
1886 | K>N | lung [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM6162900 COSM6162899 |
1886 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs114877509 | 1887 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1287344716 | 1887 | L>P | No |
TOPMed gnomAD |
|
rs1453800220 | 1888 | S>R | No | gnomAD | |
rs780489184 | 1889 | L>P | No |
ExAC TOPMed gnomAD |
|
rs780489184 | 1889 | L>Q | No |
ExAC TOPMed gnomAD |
|
rs2083329393 | 1890 | E>G | No | Ensembl | |
COSM3914794 COSM3914793 |
1891 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083329829 | 1892 | S>N | No | TOPMed | |
rs56098940 | 1893 | S>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs56098940 | 1893 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201749166 | 1894 | Y>C | No |
1000Genomes TOPMed gnomAD |
|
rs2083330558 | 1894 | Y>H | No | Ensembl | |
COSM727766 rs772252798 COSM727765 |
1895 | R>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs772252798 | 1895 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs150257895 COSM3781068 COSM3781067 |
1895 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1204032635 | 1896 | G>A | No |
TOPMed gnomAD |
|
rs1204032635 | 1896 | G>E | No |
TOPMed gnomAD |
|
VAR_035625 | 1897 | S>C | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
rs746853235 | 1898 | L>M | No |
ExAC TOPMed gnomAD |
|
rs2083333025 | 1901 | P>S | No | TOPMed | |
rs759552317 | 1902 | A>G | No | ExAC | |
rs776670607 | 1902 | A>S | No |
ExAC TOPMed gnomAD |
|
rs1337477189 | 1903 | G>A | No |
TOPMed gnomAD |
|
rs1337477189 | 1903 | G>D | No |
TOPMed gnomAD |
|
rs376489541 | 1903 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
rs898352246 | 1906 | N>S | No | Ensembl | |
rs1470563056 | 1908 | G>E | No | gnomAD | |
COSM4112977 COSM4112978 |
1910 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1159110066 | 1911 | P>A | No |
TOPMed gnomAD |
|
rs762634197 | 1911 | P>L | No |
ExAC TOPMed gnomAD |
|
rs762634197 | 1911 | P>R | No |
ExAC TOPMed gnomAD |
|
rs762353391 | 1912 | P>H | No | ExAC | |
rs762353391 | 1912 | P>R | No | ExAC | |
rs763702249 | 1912 | P>S | No |
ExAC gnomAD |
|
rs766730133 | 1913 | T>I | No |
ExAC gnomAD |
|
rs1559769637 | 1914 | P>L | No | Ensembl | |
rs2083337574 | 1915 | P>A | No | Ensembl | |
rs755492318 | 1915 | P>L | No |
ExAC gnomAD |
|
COSM3722227 COSM3722228 |
1915 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs779043939 | 1916 | K>E | No |
ExAC gnomAD |
|
rs2046669240 | 1917 | N>D | No | Ensembl | |
rs909288140 | 1918 | P>L | No |
TOPMed gnomAD |
|
rs909288140 | 1918 | P>R | No |
TOPMed gnomAD |
|
TCGA novel rs2083339400 |
1921 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
TCGA novel | 1924 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1925 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083340126 | 1926 | A>D | No | Ensembl | |
rs2083340600 | 1927 | L>P | No | TOPMed | |
rs2083340600 | 1927 | L>R | No | TOPMed | |
rs770782461 | 1927 | L>V | No |
ExAC gnomAD |
|
rs1020068848 | 1928 | R>S | No | Ensembl | |
rs745789056 | 1929 | G>D | No |
ExAC TOPMed gnomAD |
|
rs781148073 | 1929 | G>S | No |
ExAC gnomAD |
|
rs745789056 | 1929 | G>V | No |
ExAC TOPMed gnomAD |
|
COSM1037511 COSM1037513 |
1930 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs35298864 RCV000949264 VAR_057190 |
1930 | R>M | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs547281807 | 1931 | M>I | No | Ensembl | |
rs1271086984 | 1931 | M>T | No |
TOPMed gnomAD |
|
rs372024978 | 1931 | M>V | No |
ESP ExAC |
|
rs2083923606 | 1932 | F>S | No | TOPMed | |
TCGA novel | 1933 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1184218137 | 1933 | V>I | No |
TOPMed gnomAD |
|
rs1184218137 | 1933 | V>L | No |
TOPMed gnomAD |
|
rs1370276338 | 1938 | V>A | No | TOPMed | |
TCGA novel | 1939 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1443433944 | 1940 | T>S | No |
TOPMed gnomAD |
|
rs755958107 | 1943 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1386781370 | 1943 | D>G | No |
TOPMed gnomAD |
|
rs2083926327 | 1943 | D>H | No | TOPMed | |
rs768092038 | 1945 | V>A | No |
ExAC TOPMed gnomAD |
|
rs749251959 | 1945 | V>I | No |
ExAC TOPMed gnomAD |
|
rs773904610 | 1946 | K>E | No |
ExAC TOPMed gnomAD |
|
rs989523251 | 1947 | D>H | No | TOPMed | |
COSM382297 COSM382298 rs989523251 |
1947 | D>Y | lung [Cosmic] | No |
cosmic curated TOPMed |
TCGA novel | 1948 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083929834 | 1948 | L>P | No | Ensembl | |
rs1394002227 | 1949 | G>D | No |
TOPMed gnomAD |
|
rs747791697 | 1951 | V>A | No |
ExAC TOPMed gnomAD |
|
rs1243570148 | 1951 | V>L | No | gnomAD | |
rs142800005 | 1952 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs142800005 | 1952 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1953 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1249638976 | 1953 | E>G | No | gnomAD | |
rs776961555 | 1953 | E>Q | No |
ExAC gnomAD |
|
COSM3586632 COSM3586633 |
1954 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1037519 COSM1037517 |
1955 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4845678 COSM4845677 |
1957 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2084209193 | 1958 | R>S | No | TOPMed | |
rs959010171 | 1959 | I>M | No | Ensembl | |
rs772703622 | 1959 | I>T | No |
ExAC TOPMed gnomAD |
|
rs746682116 | 1961 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1277816274 | 1962 | K>E | No | TOPMed | |
rs769995775 | 1962 | K>N | No |
ExAC gnomAD |
|
rs1193327605 | 1963 | G>R | No | gnomAD | |
rs1193327605 | 1963 | G>S | No | gnomAD | |
rs200997995 | 1967 | D>G | No | 1000Genomes | |
rs775981309 | 1967 | D>H | No |
ExAC TOPMed gnomAD |
|
rs775981309 | 1967 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1644906492 | 1969 | R>G | No | Ensembl | |
rs186931113 | 1969 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
rs1466957492 | 1970 | G>E | No |
TOPMed gnomAD |
|
rs2084214743 | 1970 | G>R | No | TOPMed | |
rs2084216065 | 1972 | D>G | No | Ensembl | |
rs2084216511 | 1973 | K>R | No | gnomAD | |
rs2084216966 | 1974 | I>L | No | Ensembl | |
rs537115296 | 1975 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1287328692 | 1975 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs775018855 | 1976 | F>L | No |
ExAC gnomAD |
|
rs761942959 | 1977 | G>A | No |
ExAC gnomAD |
|
rs761942959 | 1977 | G>E | No |
ExAC gnomAD |
|
rs1225823582 | 1979 | I>V | No | gnomAD | |
rs372617720 | 1980 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2084220850 | 1981 | Q>K | No | Ensembl | |
rs761015860 | 1984 | D>E | No |
ExAC gnomAD |
|
rs2084221753 | 1985 | W>* | No | gnomAD | |
TCGA novel | 1986 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3586634 COSM3586635 |
1987 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1258546519 | 1988 | D>A | No |
TOPMed gnomAD |
|
rs754027509 | 1988 | D>E | No |
ExAC gnomAD |
|
rs1258546519 | 1988 | D>G | No |
TOPMed gnomAD |
|
rs1279734937 | 1988 | D>H | No |
TOPMed gnomAD |
|
rs1279734937 | 1988 | D>N | No |
TOPMed gnomAD |
|
rs1258546519 | 1988 | D>V | No |
TOPMed gnomAD |
|
rs1480241441 | 1989 | F>I | No | gnomAD | |
rs1480241441 | 1989 | F>L | No | gnomAD | |
rs1480241441 | 1989 | F>V | No | gnomAD | |
rs779211349 | 1990 | F>I | No | gnomAD | |
rs765021406 | 1991 | L>M | No |
ExAC gnomAD |
|
rs765021406 | 1991 | L>V | No |
ExAC gnomAD |
|
rs138911697 | 1992 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138911697 | 1992 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777148067 | 1996 | K>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1999 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs112835381 | 2000 | E>G | No | Ensembl | |
rs2084263431 | 2002 | D>E | No | Ensembl | |
rs1303884980 | 2005 | A>P | No | gnomAD | |
rs1303884980 | 2005 | A>T | No | gnomAD | |
rs2084264781 | 2007 | L>H | No | TOPMed | |
rs1045333047 | 2011 | H>L | No |
TOPMed gnomAD |
|
rs751124475 | 2011 | H>Y | No |
ExAC gnomAD |
|
rs780400062 | 2013 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs755893667 | 2013 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1472924614 | 2014 | K>Q | No | TOPMed | |
rs748571994 | 2015 | L>V | No |
ExAC gnomAD |
|
rs758711235 | 2016 | H>D | No |
ExAC gnomAD |
|
rs1244557879 | 2016 | H>P | No | TOPMed | |
rs1244557879 | 2016 | H>R | No | TOPMed | |
COSM4112981 COSM4112982 |
2016 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1037522 COSM1037520 |
2017 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs139149462 | 2019 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs139149462 | 2019 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1259077338 | 2021 | Y>C | No |
TOPMed gnomAD |
|
rs200637679 | 2023 | Q>E | No | Ensembl | |
rs2084376232 | 2023 | Q>R | No | Ensembl | |
rs1184376917 | 2025 | K>R | No | gnomAD | |
rs775246399 | 2026 | P>L | No |
ExAC gnomAD |
|
rs149923815 | 2027 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
RCV000921806 rs144160219 |
2027 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs56106611 RCV000954402 |
2028 | S>A | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1408688930 | 2028 | S>L | No | gnomAD | |
rs749992756 | 2030 | Y>C | No |
ExAC gnomAD |
|
rs61745758 | 2031 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs376402588 | 2031 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs147771207 | 2032 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758725005 | 2033 | A>T | No |
ExAC TOPMed gnomAD |
|
rs778013452 | 2033 | A>V | No |
ExAC gnomAD |
|
rs757771267 | 2034 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1325403601 | 2034 | E>V | No | gnomAD | |
rs544425646 | 2037 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs769887578 | 2037 | A>S | No |
ExAC TOPMed gnomAD |
|
rs769887578 | 2037 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2150203057 | 2041 | E>G | No | Ensembl | |
rs1345311075 | 2041 | E>K | No | gnomAD | |
rs1345311075 | 2041 | E>Q | No | gnomAD | |
rs2084523139 | 2042 | V>I | No | Ensembl | |
rs1423420623 | 2046 | I>T | No | gnomAD | |
rs780163028 | 2047 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1366932646 | 2049 | R>G | No | gnomAD | |
rs141343989 | 2049 | R>K | No | TOPMed | |
rs2084525420 | 2052 | L>P | No | TOPMed | |
rs2084526432 | 2055 | F>L | No | gnomAD | |
rs778745851 | 2055 | F>L | No |
ExAC gnomAD |
|
rs2150203508 | 2056 | L>F | No | Ensembl | |
rs1402663574 | 2057 | I>S | No |
TOPMed gnomAD |
|
rs747849348 | 2058 | K>N | No |
ExAC gnomAD |
|
rs2084527666 | 2058 | K>R | No | gnomAD | |
rs2084528167 | 2059 | P>A | No | gnomAD | |
rs1310226964 | 2063 | I>V | No | gnomAD | |
rs1170536705 | 2064 | T>A | No | TOPMed | |
rs772022707 | 2064 | T>I | No |
ExAC TOPMed gnomAD |
|
rs772022707 | 2064 | T>K | No |
ExAC TOPMed gnomAD |
|
rs772022707 | 2064 | T>R | No |
ExAC TOPMed gnomAD |
|
rs2084530697 | 2067 | Q>E | No | gnomAD | |
COSM6162893 COSM6162894 |
2067 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150203886 | 2068 | L>F | No | Ensembl | |
rs1460269844 | 2072 | D>E | No | gnomAD | |
rs2084791742 | 2074 | L>R | No | Ensembl | |
rs2084792075 | 2075 | R>K | No | TOPMed | |
rs199799341 | 2075 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1184944926 | 2077 | S>N | No |
TOPMed gnomAD |
|
rs1479521774 | 2078 | E>G | No | TOPMed | |
rs987476258 | 2080 | A>S | No |
TOPMed gnomAD |
|
rs987476258 | 2080 | A>T | No |
TOPMed gnomAD |
|
rs924219935 | 2080 | A>V | No | Ensembl | |
TCGA novel | 2084 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2084795229 | 2084 | C>R | No | Ensembl | |
rs868092366 | 2085 | S>L | No | Ensembl | |
rs935592383 | 2087 | I>T | No | Ensembl | |
rs1248246339 | 2088 | E>K | No | gnomAD | |
rs1578751516 | 2088 | E>V | No | Ensembl | |
rs1383772875 | 2090 | A>S | No | Ensembl | |
rs754944438 | 2091 | V>M | No |
ExAC gnomAD |
|
COSM727764 COSM727763 |
2092 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1378011596 | 2094 | M>I | No |
TOPMed gnomAD |
|
rs1181851356 | 2094 | M>T | No |
TOPMed gnomAD |
|
rs2084917724 | 2094 | M>V | No | gnomAD | |
rs1453242530 | 2095 | C>G | No |
TOPMed gnomAD |
|
rs752955221 | 2096 | L>F | No |
ExAC gnomAD |
|
rs1224035274 | 2098 | P>A | No |
TOPMed gnomAD |
|
rs140557803 | 2100 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs759225248 | 2100 | R>H | No |
ExAC TOPMed gnomAD |
|
rs746851048 | 2102 | N>K | No |
ExAC gnomAD |
|
rs2084920493 | 2102 | N>S | No | TOPMed | |
rs1212562099 | 2103 | D>E | No | gnomAD | |
rs1258798240 | 2103 | D>G | No | gnomAD | |
rs757102532 | 2103 | D>N | No |
ExAC TOPMed gnomAD |
|
rs757102532 | 2103 | D>Y | No |
ExAC TOPMed gnomAD |
|
COSM1037525 COSM1037523 |
2104 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1209315006 | 2104 | M>T | No | gnomAD | |
rs1485404830 | 2104 | M>V | No |
TOPMed gnomAD |
|
rs2084922545 COSM419865 COSM419864 |
2105 | M>I | urinary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs780956100 | 2105 | M>K | No |
ExAC gnomAD |
|
TCGA novel | 2107 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1237812399 | 2109 | R>C | No | gnomAD | |
rs527332843 | 2109 | R>H | No |
1000Genomes ExAC gnomAD |
|
rs1488983759 | 2110 | L>R | No | gnomAD | |
rs748906244 | 2111 | Q>R | No |
ExAC gnomAD |
|
rs1489825689 | 2112 | G>A | No |
TOPMed gnomAD |
|
rs1489825689 | 2112 | G>V | No |
TOPMed gnomAD |
|
COSM4760978 COSM4760979 |
2114 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1325890592 | 2115 | G>D | No |
TOPMed gnomAD |
|
rs1325890592 | 2115 | G>V | No |
TOPMed gnomAD |
|
rs2085638333 | 2116 | T>I | No | TOPMed | |
rs2150311142 | 2117 | L>P | No | Ensembl | |
rs2085638978 | 2118 | T>N | No | TOPMed | |
rs201108531 | 2120 | Q>R | No |
1000Genomes ExAC gnomAD |
|
rs1216557962 | 2121 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1290476215 | 2124 | L>V | No | gnomAD | |
rs560018785 | 2127 | D>E | No |
1000Genomes ExAC gnomAD |
|
rs970560022 | 2128 | T>I | No | Ensembl | |
rs139843692 | 2130 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2085642289 | 2130 | Y>H | No | Ensembl | |
rs201076232 | 2131 | V>M | No |
ExAC TOPMed gnomAD |
|
rs762156107 | 2132 | I>T | No |
ExAC TOPMed gnomAD |
|
rs267599584 COSM1037528 COSM1037526 |
2133 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs267599584 | 2133 | E>Q | No |
TOPMed gnomAD |
|
rs750279317 | 2134 | L>P | No |
ExAC gnomAD |
|
rs750279317 | 2134 | L>R | No |
ExAC gnomAD |
|
rs2085644608 | 2134 | L>V | No | Ensembl | |
rs1407815919 | 2135 | D>E | No |
TOPMed gnomAD |
|
COSM4910436 COSM4910437 |
2135 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1173463640 | 2137 | G>D | No | gnomAD | |
rs1427219151 | 2137 | G>S | No | gnomAD | |
rs1469670718 | 2138 | M>I | No | gnomAD | |
rs779922674 | 2138 | M>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2139 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs950729303 | 2140 | S>C | No | Ensembl | |
rs2085647103 | 2140 | S>P | No | Ensembl | |
rs368791560 | 2141 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs368791560 | 2141 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs368791560 | 2141 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs573768804 | 2141 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1028914518 | 2142 | T>S | No | TOPMed | |
rs138817318 | 2143 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs2150311978 | 2143 | K>N | No | Ensembl | |
rs138817318 | 2143 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs770314288 | 2144 | E>D | No |
ExAC TOPMed gnomAD |
|
rs776077977 | 2146 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs149338497 | 2146 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149338497 | 2146 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144745311 | 2147 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs761915647 | 2150 | F>L | No |
ExAC TOPMed gnomAD |
|
rs2085651376 | 2150 | F>S | No | gnomAD | |
rs1484942723 | 2151 | E>G | No | gnomAD | |
rs767728290 | 2151 | E>K | No |
ExAC TOPMed gnomAD |
|
rs767728290 | 2151 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1425022225 | 2152 | Q>* | No | gnomAD | |
rs961834888 | 2153 | I>T | No |
TOPMed gnomAD |
|
rs760450028 | 2153 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2085654708 | 2154 | V>A | No | TOPMed | |
rs1461817118 | 2154 | V>I | No |
TOPMed gnomAD |
|
rs2085654976 | 2155 | I>V | No | Ensembl | |
TCGA novel | 2160 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2161 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1404148966 | 2162 | K>N | No |
TOPMed gnomAD |
|
COSM3586637 COSM3586636 |
2163 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1415754327 | 2167 | P>L | No |
TOPMed gnomAD |
|
rs1446455434 | 2168 | G>A | No |
TOPMed gnomAD |
|
rs1028131001 | 2170 | M>I | No |
TOPMed gnomAD |
|
rs753761954 | 2170 | M>K | No |
ExAC TOPMed gnomAD |
|
rs1344082922 | 2170 | M>L | No | gnomAD | |
rs753761954 | 2170 | M>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2172 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2173 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs377746113 | 2173 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1251712700 | 2174 | S>G | No | TOPMed | |
rs1222850890 | 2175 | I>T | No |
TOPMed gnomAD |
|
rs2085660281 | 2176 | K>E | No | gnomAD | |
rs2085660526 | 2176 | K>R | No | Ensembl | |
rs1056954426 | 2177 | M>I | No |
TOPMed gnomAD |
|
rs2085724449 | 2180 | L>F | No | TOPMed | |
rs2085724878 | 2181 | V>I | No | TOPMed | |
rs751214264 | 2183 | E>A | No |
ExAC gnomAD |
|
rs199695356 | 2184 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs749616690 | 2185 | N>D | No |
ExAC gnomAD |
|
rs754198426 | 2186 | V>A | No | Ensembl | |
rs1222867114 | 2187 | D>H | No | gnomAD | |
rs757843330 | 2188 | N>S | No |
ExAC gnomAD |
|
rs1181605841 | 2189 | D>H | No | gnomAD | |
rs1181605841 | 2189 | D>N | No | gnomAD | |
rs2085728644 | 2190 | P>L | No | TOPMed | |
COSM3914796 COSM3914795 |
2190 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2085728351 | 2190 | P>T | No | Ensembl | |
rs375121715 | 2191 | C>Y | No |
ESP ExAC gnomAD |
|
rs2085729129 | 2192 | K>Q | No |
TOPMed gnomAD |
|
rs1290140312 | 2193 | F>Y | No |
TOPMed gnomAD |
|
rs2085729837 | 2194 | A>S | No | TOPMed | |
rs748614645 | 2194 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1245358663 | 2195 | L>F | No | TOPMed | |
rs1245358663 | 2195 | L>I | No | TOPMed | |
rs2085731333 | 2196 | M>K | No | Ensembl | |
rs773232245 | 2196 | M>L | No |
ExAC gnomAD |
|
rs2085731333 | 2196 | M>T | No | Ensembl | |
rs773232245 | 2196 | M>V | No |
ExAC gnomAD |
|
rs2085731616 COSM673902 COSM673903 |
2198 | R>K | endometrium [Cosmic] | No |
cosmic curated TOPMed |
rs2085731882 | 2199 | E>Q | No | TOPMed | |
rs747200936 | 2200 | T>N | No |
ExAC TOPMed gnomAD |
|
rs2085732449 | 2202 | E>K | No | Ensembl | |
rs1161360237 | 2203 | R>G | No |
TOPMed gnomAD |
|
rs771193440 | 2203 | R>T | No |
ExAC TOPMed gnomAD |
|
rs1279189490 | 2204 | V>A | No | gnomAD | |
rs759288506 | 2205 | V>F | No |
ExAC gnomAD |
|
rs759288506 | 2205 | V>I | No |
ExAC gnomAD |
|
rs762859959 | 2207 | Q>* | No |
ExAC gnomAD |
|
rs751074018 | 2209 | A>S | No |
ExAC TOPMed gnomAD |
|
rs751074018 | 2209 | A>T | No |
ExAC TOPMed gnomAD |
|
rs963442699 | 2210 | N>S | No | Ensembl | |
rs767235200 | 2211 | A>T | No |
ExAC TOPMed gnomAD |
|
rs750102941 | 2214 | Q>H | No |
ExAC gnomAD |
|
rs755333342 | 2215 | Q>R | No |
ExAC gnomAD |
|
rs140660780 | 2216 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1459380119 | 2216 | A>V | No | gnomAD | |
rs1200127122 | 2218 | V>M | No | gnomAD | |
rs2085739595 | 2220 | D>H | No |
TOPMed gnomAD |
|
rs1183875716 | 2221 | I>T | No |
TOPMed gnomAD |
|
rs1468332959 | 2222 | N>H | No | Ensembl | |
rs777886239 | 2222 | N>K | No |
ExAC TOPMed gnomAD |
|
rs758868856 | 2222 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2085741408 | 2226 | E>D | No | TOPMed | |
rs2085741694 | 2227 | T>A | No | gnomAD | |
rs1473046966 | 2228 | Q>E | No | gnomAD | |
rs1439864563 | 2228 | Q>R | No | TOPMed | |
rs1167272064 | 2229 | R>G | No | gnomAD | |
RCV001356748 rs747043605 |
2229 | R>Q | No |
ClinVar ExAC dbSNP gnomAD |
|
rs1467048641 | 2230 | D>E | No |
TOPMed gnomAD |
|
rs746104897 | 2231 | F>C | No |
ExAC gnomAD |
|
rs771030176 | 2231 | F>I | No |
ExAC TOPMed gnomAD |
|
rs771030176 | 2231 | F>L | No |
ExAC TOPMed gnomAD |
|
rs769621632 | 2231 | F>L | No |
ExAC gnomAD |
|
rs775218572 | 2232 | L>S | No |
ExAC gnomAD |
|
rs775218572 | 2232 | L>W | No |
ExAC gnomAD |
|
rs2085745104 | 2233 | N>D | No | TOPMed | |
rs753559897 | 2237 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs753559897 | 2237 | S>W | No |
ExAC gnomAD |
|
rs948871324 | 2238 | P>L | No | Ensembl | |
rs2086470046 | 2238 | P>S | No | TOPMed | |
rs757831396 | 2239 | I>T | No |
ExAC TOPMed gnomAD |
|
rs752049201 | 2239 | I>V | No |
ExAC gnomAD |
|
rs750520760 | 2240 | E>G | No |
ExAC TOPMed gnomAD |
|
rs767555973 | 2240 | E>K | No |
ExAC gnomAD |
|
rs750520760 | 2240 | E>V | No |
ExAC TOPMed gnomAD |
|
rs374234847 | 2243 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs374234847 | 2243 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs374234847 | 2243 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs780069173 | 2243 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1355250729 | 2244 | K>Q | No |
TOPMed gnomAD |
|
rs2086474906 | 2245 | E>G | No | TOPMed | |
COSM3586638 COSM3586639 |
2245 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1566301 COSM1566302 |
2246 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2086475179 | 2247 | S>N | No | Ensembl | |
rs2150371471 | 2251 | M>T | No | Ensembl | |
rs748067012 | 2252 | R>M | No |
ExAC gnomAD |
|
rs748067012 | 2252 | R>T | No |
ExAC gnomAD |
|
rs1487366324 | 2253 | S>C | No | gnomAD | |
rs1578853129 | 2254 | Q>H | No | Ensembl | |
rs1192756407 | 2254 | Q>L | No |
TOPMed gnomAD |
|
rs1192756407 | 2254 | Q>R | No |
TOPMed gnomAD |
|
TCGA novel | 2255 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1439244084 | 2255 | P>R | No | gnomAD | |
rs143835330 | 2255 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143835330 | 2255 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773304128 | 2256 | A>S | No |
ExAC TOPMed gnomAD |
|
rs940946966 | 2256 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1215135367 | 2257 | R>K | No | TOPMed | |
TCGA novel | 2257 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746462251 | 2257 | R>S | No |
ExAC TOPMed gnomAD |
|
rs2086480760 | 2259 | P>L | No | TOPMed | |
rs1163467077 | 2259 | P>S | No |
TOPMed gnomAD |
|
rs1578853499 | 2261 | A>V | No | Ensembl | |
rs1294450209 | 2262 | S>N | No |
TOPMed gnomAD |
|
rs1396235480 | 2262 | S>R | No | gnomAD | |
rs377636885 | 2263 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774741290 | 2264 | R>K | No | ExAC | |
rs767967212 | 2265 | P>H | No |
ExAC TOPMed gnomAD |
|
rs146809556 COSM99071 |
2265 | P>S | stomach [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
COSM3586643 COSM3586642 |
2268 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756086389 | 2269 | V>F | No |
ExAC TOPMed gnomAD |
|
rs1265751212 | 2270 | P>L | No | gnomAD | |
COSM1693383 COSM1693384 rs139050770 |
2270 | P>S | skin [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs753999093 | 2271 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 2274 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1432415544 | 2274 | E>Q | No | TOPMed | |
rs747901386 | 2276 | P>T | No |
ExAC TOPMed gnomAD |
|
rs746980775 | 2277 | P>L | No |
ExAC TOPMed gnomAD |
|
rs746980775 | 2277 | P>Q | No |
ExAC TOPMed gnomAD |
|
rs777786497 | 2277 | P>S | No |
ExAC TOPMed gnomAD |
|
rs2086490026 | 2278 | K>E | No | Ensembl | |
rs770335571 | 2279 | G>S | No |
ExAC gnomAD |
|
rs776273508 | 2279 | G>V | No |
ExAC gnomAD |
|
rs2086491475 | 2280 | S>P | No |
TOPMed gnomAD |
|
rs745481870 | 2282 | Y>C | No |
ExAC gnomAD |
|
rs2150372961 | 2283 | N>K | No | Ensembl | |
rs1328834626 | 2284 | P>S | No | gnomAD | |
COSM1037534 COSM1037532 |
2284 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1301681501 | 2285 | P>L | No | gnomAD | |
rs775150045 | 2285 | P>S | No |
ExAC gnomAD |
|
rs2086492912 | 2286 | L>M | No | Ensembl | |
rs574388819 | 2288 | P>L | No | gnomAD | |
rs1265356828 | 2288 | P>S | No | TOPMed | |
rs767877274 | 2291 | I>T | No |
ExAC gnomAD |
|
rs773576120 | 2292 | S>P | No |
ExAC TOPMed gnomAD |
|
rs773576120 | 2292 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1259772811 | 2294 | S>F | No | gnomAD | |
rs1259772811 | 2294 | S>Y | No | gnomAD | |
rs761308468 | 2295 | N>D | No |
ExAC TOPMed gnomAD |
|
rs766337334 | 2295 | N>S | No |
ExAC TOPMed gnomAD |
|
rs140582792 | 2296 | G>C | No |
ExAC TOPMed gnomAD |
|
rs759710043 | 2296 | G>D | No |
ExAC gnomAD |
|
rs759710043 | 2296 | G>V | No |
ExAC gnomAD |
|
rs545817282 | 2297 | S>R | No | gnomAD | |
rs1293385472 | 2299 | G>E | No |
TOPMed gnomAD |
|
rs1263153578 | 2299 | G>R | No | gnomAD | |
rs1293385472 | 2299 | G>V | No |
TOPMed gnomAD |
|
rs752973251 | 2300 | F>L | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2301 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs758210307 | 2302 | Y>F | No |
ExAC TOPMed gnomAD |
|
rs1412610252 | 2303 | H>Y | No |
TOPMed gnomAD |
|
rs777683651 | 2305 | P>H | No |
ExAC TOPMed gnomAD |
|
rs35653635 | 2306 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2086501870 | 2307 | D>G | No | TOPMed | |
rs957429915 | 2307 | D>N | No | Ensembl | |
rs745336547 | 2308 | K>E | No |
ExAC TOPMed gnomAD |
|
rs769328981 | 2309 | F>L | No |
ExAC TOPMed gnomAD |
|
rs1010135527 | 2309 | F>L | No |
TOPMed gnomAD |
|
COSM232568 RCV000889933 COSM232569 rs142947301 |
2310 | E>K | skin [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs2086503569 | 2311 | A>T | No | TOPMed | |
rs2086503897 | 2312 | S>N | No | gnomAD | |
rs1324038181 | 2312 | S>R | No | gnomAD | |
rs2086504609 | 2313 | K>N | No |
TOPMed gnomAD |
|
rs1219425319 | 2314 | Q>H | No | gnomAD | |
rs565585638 | 2315 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs936955573 | 2316 | D>E | No | TOPMed | |
COSM3586646 rs775753465 COSM3586647 |
2316 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2086900578 | 2318 | G>E | No | gnomAD | |
rs763247639 COSM3728122 COSM3728121 |
2318 | G>R | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA |
rs1285442067 | 2319 | G>C | No | gnomAD | |
rs1358371082 | 2319 | G>D | No | gnomAD | |
rs2086902522 | 2320 | C>F | No | Ensembl | |
rs184999164 | 2320 | C>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 2320 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1291099153 | 2321 | N>K | No | gnomAD | |
rs774472087 | 2321 | N>S | No |
ExAC TOPMed gnomAD |
|
rs370369188 | 2323 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs767269208 | 2324 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1379141731 | 2324 | S>P | No | gnomAD | |
rs756081490 | 2325 | S>C | No |
ExAC gnomAD |
|
rs558112961 | 2326 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs558112961 | 2326 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs373630403 | 2328 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1441897453 | 2330 | K>Q | No | gnomAD | |
rs1429302725 | 2332 | Y>C | No |
TOPMed gnomAD |
|
rs1308886788 | 2333 | Y>C | No |
TOPMed gnomAD |
|
rs1559827297 | 2333 | Y>N | No | Ensembl | |
rs1374721018 | 2334 | A>V | No | gnomAD | |
rs2086908610 | 2335 | L>P | No | TOPMed | |
rs778559837 | 2336 | K>T | No | ExAC | |
rs1247897277 | 2339 | E>K | No | gnomAD | |
rs1242466422 | 2340 | I>T | No | gnomAD | |
rs2086909858 | 2341 | C>S | No |
TOPMed gnomAD |
|
rs2086910105 | 2342 | V>M | No | TOPMed | |
rs2086910348 | 2344 | Q>R | No | Ensembl | |
rs41264665 | 2345 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2086911634 | 2347 | V>E | No | TOPMed | |
rs1041209235 | 2348 | V>F | No |
TOPMed gnomAD |
|
rs746348119 | 2350 | V>I | No |
ExAC gnomAD |
|
rs202061265 | 2352 | A>T | No |
ExAC TOPMed gnomAD |
|
COSM269409 COSM269410 rs774580265 |
2353 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs2086913705 | 2354 | N>D | No | Ensembl | |
rs2086913942 | 2356 | Q>R | No | TOPMed | |
rs145164918 | 2358 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
rs767344058 | 2359 | C>G | No |
ExAC gnomAD |
|
rs767344058 | 2359 | C>R | No |
ExAC gnomAD |
|
rs767344058 | 2359 | C>S | No |
ExAC gnomAD |
|
rs1578877701 | 2362 | Y>S | No | Ensembl | |
TCGA novel | 2364 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs773051646 | 2366 | S>C | No |
ExAC TOPMed gnomAD |
|
rs1578877837 | 2367 | D>A | No | Ensembl | |
rs953197853 | 2367 | D>E | No |
TOPMed gnomAD |
|
COSM3914798 COSM3914797 rs760479725 |
2367 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1319825943 | 2368 | H>P | No | gnomAD | |
rs1327922356 | 2368 | H>Y | No | TOPMed | |
rs368115319 | 2370 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1389202113 | 2370 | P>S | No | gnomAD | |
TCGA novel | 2371 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs764702445 | 2371 | A>T | No |
ExAC gnomAD |
|
rs56085806 | 2371 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1218462793 | 2372 | A>D | No |
TOPMed gnomAD |
|
rs1218462793 | 2372 | A>G | No |
TOPMed gnomAD |
|
rs781679134 | 2372 | A>S | No |
ExAC TOPMed gnomAD |
|
rs781679134 | 2372 | A>T | No |
ExAC TOPMed gnomAD |
|
rs749778361 | 2373 | E>K | No |
ExAC gnomAD |
|
rs1285550614 | 2374 | G>A | No |
TOPMed gnomAD |
|
rs1200150543 | 2374 | G>C | No | gnomAD | |
rs1285550614 | 2374 | G>D | No |
TOPMed gnomAD |
|
rs112911419 | 2375 | W>* | No | Ensembl | |
COSM4796349 COSM4796350 |
2376 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1441404451 | 2377 | P>L | No | gnomAD | |
rs1239183045 | 2378 | G>A | No | gnomAD | |
rs1239183045 | 2378 | G>D | No | gnomAD | |
rs2086924372 | 2380 | I>S | No | TOPMed | |
rs143716563 | 2382 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs143716563 | 2382 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1421213497 | 2384 | L>V | No | gnomAD | |
rs770735721 | 2385 | T>I | No |
ExAC gnomAD |
|
rs1578878687 | 2385 | T>P | No | Ensembl | |
rs776608758 | 2386 | K>R | No |
ExAC gnomAD |
|
rs1401581378 | 2388 | T>A | No | gnomAD | |
rs1394405403 | 2388 | T>I | No |
TOPMed gnomAD |
|
rs759431023 | 2390 | A>V | No |
ExAC gnomAD |
|
RCV002249067 rs992438028 |
2392 | S>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs752205306 | 2392 | S>I | No |
ExAC TOPMed gnomAD |
|
rs752205306 | 2392 | S>N | No |
ExAC TOPMed gnomAD |
|
rs369924314 | 2393 | S>I | No |
ESP TOPMed gnomAD |
|
rs150398770 | 2395 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs756493850 | 2396 | S>I | No |
ExAC TOPMed |
|
rs756493850 | 2396 | S>N | No |
ExAC TOPMed |
|
rs2086934592 | 2397 | I>V | No | Ensembl | |
rs2086935507 | 2398 | K>Q | No | Ensembl | |
rs536434991 | 2398 | K>R | No | gnomAD | |
rs2087408550 | 2399 | K>N | No | gnomAD | |
rs1436349032 | 2401 | C>R | No |
TOPMed gnomAD |
|
TCGA novel | 2402 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2087409096 | 2402 | S>L | No | Ensembl | |
TCGA novel | 2403 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs775239180 | 2403 | W>R | No |
ExAC gnomAD |
|
rs1328607696 COSM727755 COSM727756 |
2404 | H>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs371805011 | 2404 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
rs371805011 | 2404 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
rs768245754 | 2405 | T>I | No |
ExAC TOPMed gnomAD |
|
COSM1037540 COSM1037538 |
2406 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1234850146 | 2406 | L>P | No | gnomAD | |
rs1319671756 | 2406 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs747606269 COSM3392005 COSM3392004 |
2407 | R>C | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs767013745 | 2407 | R>H | No |
ExAC TOPMed gnomAD |
|
rs1196998968 | 2408 | M>V | No |
TOPMed gnomAD |
|
rs760299802 | 2410 | K>Q | No | Ensembl | |
rs35729834 | 2411 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs35729834 | 2411 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs35729834 | 2411 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1010276863 | 2411 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1197217291 | 2412 | A>E | No |
TOPMed gnomAD |
|
rs1197217291 | 2412 | A>V | No |
TOPMed gnomAD |
|
rs753171260 | 2416 | N>T | No |
ExAC TOPMed gnomAD |
|
rs758971263 | 2417 | T>A | No |
ExAC gnomAD |
|
rs375472024 | 2417 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375472024 | 2417 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1355771288 | 2418 | G>R | No |
TOPMed gnomAD |
|
rs1355771288 | 2418 | G>S | No |
TOPMed gnomAD |
|
rs2087418509 | 2419 | K>E | No | TOPMed | |
rs1301775659 | 2420 | N>S | No | gnomAD | |
rs867470182 | 2421 | E>K | No | Ensembl | |
COSM1037543 COSM1037541 |
2423 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs138278618 | 2424 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs746121650 | 2425 | P>H | No |
ExAC gnomAD |
|
COSM3914800 COSM3914799 rs576463141 |
2426 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs576463141 | 2426 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs779935599 | 2426 | R>H | No |
ExAC TOPMed gnomAD |
|
rs779935599 | 2426 | R>L | No |
ExAC TOPMed gnomAD |
|
rs2087421557 | 2427 | K>E | No | TOPMed | |
rs1308221080 | 2427 | K>N | No | gnomAD | |
rs1275428141 | 2431 | I>N | No | gnomAD | |
rs768660105 | 2432 | L>V | No |
ExAC TOPMed |
|
rs2150447483 | 2434 | N>S | No | Ensembl | |
rs747623775 | 2436 | V>A | No |
ExAC gnomAD |
|
rs556441458 | 2436 | V>I | No |
1000Genomes ExAC gnomAD |
|
COSM727751 COSM727752 |
2438 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs369756088 | 2438 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1383181904 | 2439 | K>N | No | TOPMed | |
rs1412004657 | 2439 | K>Q | No |
TOPMed gnomAD |
|
rs766672025 | 2441 | T>M | No |
ExAC TOPMed gnomAD |
|
rs754800493 | 2442 | N>I | No |
ExAC gnomAD |
|
rs2087549057 | 2442 | N>Y | No | TOPMed | |
rs752573214 | 2443 | S>G | No |
ExAC gnomAD |
|
rs1370881839 | 2443 | S>N | No | gnomAD | |
rs1448302467 | 2444 | S>Y | No | gnomAD | |
COSM4793336 COSM4793337 |
2445 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1285372467 | 2449 | C>Y | No |
TOPMed gnomAD |
|
rs2087551473 | 2450 | D>E | No | TOPMed | |
rs2087551653 | 2451 | D>Y | No | TOPMed | |
TCGA novel | 2453 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2087551835 | 2453 | D>N | No | gnomAD | |
rs1250804033 | 2454 | P>L | No | gnomAD | |
rs1250804033 | 2454 | P>R | No | gnomAD | |
rs1220335058 | 2454 | P>S | No | gnomAD | |
rs577419294 | 2456 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2087553300 | 2456 | T>I | No | TOPMed | |
rs746461538 | 2457 | S>C | No |
ExAC TOPMed gnomAD |
|
rs746461538 | 2457 | S>G | No |
ExAC TOPMed gnomAD |
|
COSM6095910 COSM6095911 |
2458 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150593804 | 2460 | I>L | No | Ensembl | |
rs1213499961 | 2460 | I>T | No |
TOPMed gnomAD |
|
rs762758916 | 2461 | L>F | No |
ExAC gnomAD |
|
rs1401602156 | 2468 | E>A | No | gnomAD | |
rs747507245 | 2470 | A>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2475 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs138839944 | 2476 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2061959988 | 2477 | L>W | No | Ensembl | |
rs745901858 | 2481 | T>I | No |
ExAC TOPMed gnomAD |
|
rs745901858 | 2481 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1559858989 | 2482 | C>Y | No | Ensembl | |
TCGA novel | 2483 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs775758176 | 2484 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1052906504 | 2484 | L>P | No |
TOPMed gnomAD |
|
rs1435006871 | 2485 | G>R | No | gnomAD | |
rs1348419996 | 2486 | D>N | No |
TOPMed gnomAD |
|
rs763771768 | 2489 | I>K | No | Ensembl | |
rs763771768 | 2489 | I>R | No | Ensembl | |
rs763942950 | 2491 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs2061960934 | 2492 | C>R | No | Ensembl | |
rs1321364099 | 2493 | K>E | No |
TOPMed gnomAD |
|
rs2061961116 | 2494 | V>L | No | TOPMed | |
rs761606230 | 2497 | R>Q | No |
ExAC TOPMed |
|
COSM1732382 rs774067123 COSM1732381 |
2497 | R>W | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM75063 | 2498 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs767406418 | 2498 | P>S | No |
ExAC gnomAD |
|
rs750386686 | 2499 | K>N | No |
ExAC gnomAD |
|
rs760158908 | 2500 | P>S | No |
ExAC gnomAD |
|
rs1195538624 | 2501 | T>A | No | gnomAD | |
rs370244700 | 2502 | I>M | No |
ESP TOPMed gnomAD |
|
COSM3586652 COSM3586653 |
2504 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2061962120 | 2506 | G>S | No | TOPMed | |
rs1439564455 | 2508 | D>E | No |
TOPMed gnomAD |
|
rs1280921143 | 2508 | D>N | No |
TOPMed gnomAD |
|
COSM3586655 COSM3586654 |
2509 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765850843 | 2509 | Q>R | No |
ExAC gnomAD |
|
rs754646887 | 2510 | N>K | No |
ExAC TOPMed gnomAD |
|
rs374016191 | 2510 | N>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1463505475 | 2511 | I>T | No |
TOPMed gnomAD |
|
rs778641408 | 2514 | T>I | No |
ExAC gnomAD |
|
rs751906517 | 2515 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1343899545 | 2516 | N>D | No |
TOPMed gnomAD |
|
TCGA novel | 2516 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757727525 | 2517 | S>G | No |
ExAC gnomAD |
|
rs1158538180 | 2518 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs2061963193 | 2520 | T>I | No | Ensembl | |
rs1371168724 | 2521 | Y>H | No | gnomAD | |
rs1371168724 | 2521 | Y>N | No | gnomAD | |
rs781745800 | 2522 | T>M | No |
ExAC TOPMed gnomAD |
|
rs865839452 | 2527 | D>G | No | Ensembl | |
COSM3586656 COSM3586657 |
2527 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2062040207 | 2529 | G>A | No | Ensembl | |
rs1578998665 | 2530 | E>D | No | Ensembl | |
rs781718965 | 2531 | I>N | No |
ExAC TOPMed gnomAD |
|
rs781718965 | 2531 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1253150430 | 2532 | T>S | No | gnomAD | |
TCGA novel | 2533 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1210868168 | 2533 | L>V | No | gnomAD | |
rs780621634 | 2535 | I>F | No |
ExAC gnomAD |
|
rs921430834 | 2535 | I>M | No | Ensembl | |
rs1476415151 | 2536 | C>S | No | gnomAD | |
rs1198782370 | 2536 | C>Y | No |
TOPMed gnomAD |
|
rs768806315 | 2538 | L>V | No |
ExAC gnomAD |
|
rs1050115806 | 2539 | M>I | No |
TOPMed gnomAD |
|
rs1578998887 | 2541 | Q>R | No | Ensembl | |
rs867926749 | 2544 | G>R | No | Ensembl | |
COSM1418520 COSM1418519 |
2545 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3586661 COSM3586660 |
2548 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1312237546 | 2549 | I>L | No | gnomAD | |
rs1287008238 | 2553 | D>Y | No | TOPMed | |
rs2062042450 | 2555 | G>E | No | Ensembl | |
rs1293710603 COSM3586662 COSM3586663 |
2555 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2150618637 | 2558 | S>T | No | Ensembl | |
rs148476909 | 2559 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776663754 | 2559 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1167634983 | 2561 | A>T | No |
TOPMed gnomAD |
|
rs1359566969 | 2561 | A>V | No | TOPMed | |
rs1486954279 | 2562 | T>K | No |
TOPMed gnomAD |
|
rs1486954279 | 2562 | T>R | No |
TOPMed gnomAD |
|
rs1241898725 COSM1536136 COSM6162892 COSM1536135 COSM6162891 |
2563 | V>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs141643479 | 2563 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs2062043685 | 2565 | V>M | No | TOPMed | |
rs2062114380 | 2569 | P>S | No |
TOPMed gnomAD |
|
TCGA novel | 2571 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1173155139 | 2571 | A>V | No | gnomAD | |
rs1406938418 | 2573 | N>K | No | gnomAD | |
rs369528078 | 2574 | R>C | No |
ExAC TOPMed gnomAD |
|
rs369528078 | 2574 | R>G | No |
ExAC TOPMed gnomAD |
|
COSM4112990 COSM4112989 rs369115824 |
2574 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 2574 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs369528078 | 2574 | R>S | No |
ExAC TOPMed gnomAD |
|
rs574569949 | 2576 | I>T | No |
1000Genomes ExAC gnomAD |
|
rs2062115076 | 2576 | I>V | No |
TOPMed gnomAD |
|
COSM3586664 COSM3586665 |
2577 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774080841 | 2578 | Q>R | No |
ExAC gnomAD |
|
rs1373364720 | 2579 | E>K | No | gnomAD | |
rs1279533462 | 2580 | R>G | No | gnomAD | |
rs878897171 | 2581 | S>C | No | Ensembl | |
rs1371833838 | 2581 | S>R | No | gnomAD | |
rs2062115965 | 2582 | C>Y | No | TOPMed | |
rs766808885 | 2583 | T>I | No |
ExAC gnomAD |
|
rs1579005936 | 2583 | T>P | No | Ensembl | |
rs1329347278 | 2584 | S>Y | No | gnomAD | |
rs373744782 COSM272835 COSM272834 |
2585 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs150508568 | 2588 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374214808 | 2588 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1232184605 | 2591 | P>S | No |
TOPMed gnomAD |
|
rs1232184605 | 2591 | P>T | No |
TOPMed gnomAD |
|
rs371432218 | 2592 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
rs756968542 | 2592 | P>H | No |
ExAC TOPMed gnomAD |
|
rs756968542 | 2592 | P>L | No |
ExAC TOPMed gnomAD |
|
rs756968542 | 2592 | P>R | No |
ExAC TOPMed gnomAD |
|
rs371432218 | 2592 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs371432218 | 2592 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2062117704 | 2593 | S>C | No |
TOPMed gnomAD |
|
rs866229918 | 2596 | G>E | No | gnomAD | |
rs1396755586 | 2597 | N>S | No | gnomAD | |
rs552227061 | 2599 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs552227061 | 2599 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs919750972 | 2600 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs370996133 | 2604 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1355296546 | 2606 | E>G | No | gnomAD | |
TCGA novel | 2607 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2062119076 | 2608 | R>K | No | Ensembl | |
rs373713643 | 2609 | E>D | No |
ESP ExAC gnomAD |
|
rs1291109271 | 2609 | E>G | No | gnomAD | |
rs2062119367 | 2610 | E>Q | No | Ensembl | |
rs2062236324 | 2613 | Q>E | No | gnomAD | |
rs756002014 | 2620 | A>S | No |
ExAC gnomAD |
|
rs747203034 | 2621 | S>L | No |
TOPMed gnomAD |
|
rs1282330437 | 2621 | S>T | No |
TOPMed gnomAD |
|
rs762351590 COSM1418522 COSM1418521 |
2628 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs370254434 | 2629 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
rs778547375 | 2629 | I>V | No |
ExAC gnomAD |
|
rs139538191 | 2630 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA |
rs759846493 | 2631 | D>A | No |
ExAC TOPMed gnomAD |
|
rs759846493 | 2631 | D>G | No |
ExAC TOPMed gnomAD |
|
rs770194151 | 2632 | L>V | No |
ExAC gnomAD |
|
rs1403413225 | 2633 | S>G | No | gnomAD | |
rs374215079 | 2633 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
rs200600368 | 2634 | P>A | No |
TOPMed gnomAD |
|
rs763517719 | 2634 | P>L | No |
ExAC gnomAD |
|
rs200600368 | 2634 | P>S | No |
TOPMed gnomAD |
|
rs948857399 | 2635 | G>A | No |
TOPMed gnomAD |
|
rs948857399 | 2635 | G>E | No |
TOPMed gnomAD |
|
COSM273652 rs751599377 COSM273653 |
2635 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1347002667 | 2636 | C>Y | No | gnomAD | |
rs2062238677 | 2637 | P>L | No | gnomAD | |
rs2062238898 | 2638 | Y>F | No | Ensembl | |
rs144682399 | 2639 | Q>R | No |
1000Genomes ExAC gnomAD |
|
rs2062239076 | 2640 | F>L | No | TOPMed | |
rs1579016988 | 2643 | S>C | No | Ensembl | |
rs1046255209 | 2643 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1046255209 | 2643 | S>T | No | gnomAD | |
rs767734817 | 2644 | A>S | No |
ExAC gnomAD |
|
rs2062239464 | 2645 | S>T | No | Ensembl | |
rs766532456 | 2646 | N>I | No | Ensembl | |
rs1259844655 | 2647 | P>R | No | gnomAD | |
rs2150667645 | 2647 | P>S | No | 1000Genomes | |
rs866480769 | 2649 | G>R | No | Ensembl | |
rs1189253488 | 2652 | L>F | No |
TOPMed gnomAD |
|
RCV001529545 rs56320013 |
2655 | E>K | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM6095908 COSM581277 COSM581276 rs754909011 COSM6095909 |
2657 | S>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
COSM3057823 COSM3057822 |
2658 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1306365931 | 2659 | F>S | No |
TOPMed gnomAD |
|
rs1458513726 | 2660 | V>L | No |
TOPMed gnomAD |
|
COSM1670524 COSM1670523 rs1369664710 |
2661 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
rs143766292 | 2661 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143766292 | 2661 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866554548 | 2663 | P>S | No | Ensembl | |
TCGA novel | 2663 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2664 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs537142542 | 2666 | D>G | No |
1000Genomes ExAC gnomAD |
|
rs2062242059 | 2666 | D>N | No | TOPMed | |
rs1194631241 | 2667 | A>V | No | gnomAD | |
rs2062367027 | 2669 | A>V | No | gnomAD | |
rs768921250 | 2670 | D>N | No |
ExAC gnomAD |
|
rs2062367284 | 2671 | G>D | No | TOPMed | |
TCGA novel | 2671 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774897060 | 2671 | G>S | No |
ExAC gnomAD |
|
rs2150691712 | 2672 | A>T | No | Ensembl | |
rs1206406752 | 2672 | A>V | No | gnomAD | |
rs1328909837 | 2674 | I>V | No | TOPMed | |
rs1324625533 | 2675 | S>C | No | TOPMed | |
rs748640926 | 2675 | S>P | No |
ExAC TOPMed |
|
rs772181764 | 2677 | K>E | No |
ExAC gnomAD |
|
COSM4112992 COSM4112991 |
2678 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3586667 COSM3586666 |
2678 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 2680 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs899197914 | 2682 | S>T | No |
TOPMed gnomAD |
|
rs2062368304 | 2683 | A>P | No | Ensembl | |
rs773371256 | 2683 | A>V | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2686 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1409138684 | 2686 | E>K | No | TOPMed | |
TCGA novel | 2687 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766672372 | 2688 | N>D | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2691 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1303706054 | 2694 | R>C | No | gnomAD | |
rs143682793 | 2694 | R>H | No |
ESP ExAC gnomAD |
|
rs776962977 | 2697 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2062964727 | 2698 | V>E | No | TOPMed | |
TCGA novel | 2703 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2703 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1343439293 | 2705 | A>D | No | gnomAD | |
rs371482945 | 2707 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs756112179 | 2707 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM365251 rs756112179 COSM365252 |
2707 | R>L | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs2062965467 | 2708 | K>N | No | TOPMed | |
rs2062965371 | 2708 | K>R | No | TOPMed | |
rs769615739 | 2709 | D>E | No |
ExAC gnomAD |
|
rs2062965661 | 2709 | D>V | No | TOPMed | |
rs2062965553 | 2709 | D>Y | No | TOPMed | |
rs867242568 | 2711 | A>D | No | Ensembl | |
rs79062158 | 2712 | V>G | No |
ExAC gnomAD |
|
rs75973551 | 2713 | K>E | No |
ExAC gnomAD |
|
rs1579076467 | 2714 | F>I | No | Ensembl | |
COSM1642073 COSM1642074 |
2719 | M>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1419021575 | 2719 | M>K | No | TOPMed | |
rs1249367467 COSM5202873 COSM5202872 |
2719 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
TCGA novel | 2720 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs751516356 | 2721 | K>N | No |
ExAC TOPMed gnomAD |
|
rs2062966768 | 2723 | E>D | No |
TOPMed gnomAD |
|
rs1347875934 | 2725 | A>T | No | gnomAD | |
rs2150788620 | 2726 | A>D | No | Ensembl | |
rs143920760 | 2726 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140915036 | 2730 | A>S | No |
ESP TOPMed gnomAD |
|
rs140915036 | 2730 | A>T | No |
ESP TOPMed gnomAD |
|
rs1579076605 | 2731 | L>P | No | Ensembl | |
rs1369128965 | 2731 | L>V | No | gnomAD | |
rs1176532387 | 2734 | H>L | No |
TOPMed gnomAD |
|
rs750083202 | 2734 | H>Q | No |
ExAC gnomAD |
|
TCGA novel | 2735 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1003233948 | 2735 | L>P | No | Ensembl | |
rs755667727 | 2737 | H>Y | No |
ExAC gnomAD |
|
COSM6162890 COSM6162889 |
2738 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs950996979 | 2741 | I>L | No | Ensembl | |
COSM6095907 COSM6095906 |
2743 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2062968838 | 2744 | H>R | No | Ensembl | |
rs779764159 | 2744 | H>Y | No |
ExAC gnomAD |
|
rs1440814680 | 2746 | T>I | No |
TOPMed gnomAD |
|
rs146561755 | 2750 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 2750 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2751 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2755 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1315906215 | 2756 | I>V | No |
TOPMed gnomAD |
|
rs1269478585 | 2759 | L>M | No | gnomAD | |
rs930329305 | 2761 | D>H | No |
TOPMed gnomAD |
|
rs930329305 | 2761 | D>N | No |
TOPMed gnomAD |
|
rs2063172647 | 2762 | D>G | No | TOPMed | |
rs1366351795 | 2763 | G>A | No | TOPMed | |
rs2063172800 | 2764 | R>G | No | gnomAD | |
COSM1211316 COSM1211315 rs758806191 |
2764 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs778349797 | 2767 | D>E | No |
ExAC gnomAD |
|
COSM4112993 COSM4112994 |
2767 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2063173445 | 2770 | M>I | No | Ensembl | |
rs757778781 | 2770 | M>T | No |
ExAC gnomAD |
|
rs2063173534 | 2771 | N>K | No | TOPMed | |
rs781723516 | 2772 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs2063173721 | 2775 | L>M | No | Ensembl | |
rs2150826318 | 2777 | E>K | No | Ensembl | |
rs1469880870 | 2779 | K>R | No | gnomAD | |
COSM3586669 COSM3586668 rs200993632 |
2780 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
TCGA novel | 2782 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1232087424 | 2783 | Y>H | No | gnomAD | |
rs745892459 | 2784 | I>T | No |
ExAC gnomAD |
|
rs201835992 | 2785 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs373541267 | 2785 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs865932760 | 2788 | M>I | No | Ensembl | |
rs768434968 | 2788 | M>T | No |
ExAC TOPMed gnomAD |
|
rs377011587 | 2788 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 2789 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1406460321 | 2789 | E>Q | No |
TOPMed gnomAD |
|
COSM1243332 COSM1243331 |
2792 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs943310108 | 2792 | Q>K | No |
TOPMed gnomAD |
|
COSM4112996 COSM4112995 |
2792 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1411994764 | 2793 | Y>C | No |
TOPMed gnomAD |
|
rs747943551 | 2796 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs771866378 | 2799 | V>F | No |
ExAC gnomAD |
|
rs771866378 | 2799 | V>I | No |
ExAC gnomAD |
|
rs572242981 | 2801 | H>Y | No | Ensembl | |
TCGA novel | 2802 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs753876534 | 2812 | D>G | No |
ExAC gnomAD |
|
rs926477357 | 2813 | L>V | No |
TOPMed gnomAD |
|
rs779085925 | 2814 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs755074404 | 2814 | R>W | No |
ExAC gnomAD |
|
rs752956591 | 2815 | I>V | No |
ExAC gnomAD |
|
rs867893767 | 2819 | R>* | No | Ensembl | |
rs2063294343 | 2819 | R>Q | No | TOPMed | |
rs2063294538 | 2822 | L>I | No | Ensembl | |
rs1330456087 | 2826 | E>* | No | gnomAD | |
rs770837121 | 2832 | S>* | No |
ExAC TOPMed gnomAD |
|
rs770837121 | 2832 | S>L | No |
ExAC TOPMed gnomAD |
|
rs2063295254 | 2832 | S>T | No | TOPMed | |
rs1454110867 | 2833 | G>R | No |
TOPMed gnomAD |
|
rs1454110867 | 2833 | G>S | No |
TOPMed gnomAD |
|
rs1559891345 | 2835 | F>L | No | TOPMed | |
rs1365393077 | 2835 | F>S | No |
TOPMed gnomAD |
|
rs1579104507 | 2839 | H>P | No | Ensembl | |
rs2063295906 | 2839 | H>Y | No | TOPMed | |
rs2150845305 | 2845 | E>A | No | Ensembl | |
COSM727746 COSM727745 |
2846 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 2847 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4112997 COSM4112998 |
2848 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2063296337 | 2849 | P>L | No | TOPMed | |
rs2063296562 | 2851 | V>I | No | Ensembl | |
rs2063296562 | 2851 | V>L | No | Ensembl | |
rs373436261 | 2857 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1047463289 | 2860 | G>E | No | TOPMed | |
rs1378621086 | 2860 | G>R | No | gnomAD | |
TCGA novel | 2862 | D>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2063297350 | 2867 | G>R | No | TOPMed | |
rs2150845616 | 2873 | M>I | No | Ensembl | |
rs2150845665 | 2877 | V>I | No | 1000Genomes | |
TCGA novel | 2880 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs941220413 | 2882 | D>G | No | Ensembl | |
COSM3586677 COSM3586676 |
2882 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150845837 | 2887 | E>D | No | Ensembl | |
rs759580809 | 2887 | E>K | No |
ExAC gnomAD |
|
rs112771126 | 2888 | T>I | No | Ensembl | |
rs752905629 | 2889 | C>Y | No |
ExAC TOPMed gnomAD |
|
COSM1037553 COSM1037555 rs904131570 |
2892 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs904131570 | 2892 | V>L | No |
TOPMed gnomAD |
|
COSM3392006 COSM3392007 |
2894 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1536131 COSM1536132 |
2894 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2150846043 | 2895 | V>M | No | Ensembl | |
TCGA novel | 2898 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1001116641 | 2898 | S>T | No |
TOPMed gnomAD |
|
rs1487776594 | 2899 | F>Y | No | gnomAD | |
rs2063299540 | 2901 | H>D | No | Ensembl | |
rs1559891628 | 2901 | H>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs751326872 | 2901 | H>R | No |
ExAC gnomAD |
|
rs1579105087 | 2903 | Y>S | No | Ensembl | |
COSM1037558 COSM1037556 rs757021659 |
2904 | F>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs781248712 | 2905 | C>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 2905 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 2906 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1050387621 | 2907 | V>L | No | TOPMed | |
rs1409264332 | 2909 | N>H | No |
TOPMed gnomAD |
|
rs1473384350 | 2909 | N>S | No | gnomAD | |
rs146977122 | 2910 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs146977122 | 2910 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs267599585 | 2910 | A>V | No | Ensembl | |
COSM6162887 COSM6162888 |
2911 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 2911 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1456325978 | 2912 | R>T | No | gnomAD | |
rs2063300685 | 2913 | D>Y | No |
TOPMed gnomAD |
|
TCGA novel | 2917 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs779767633 | 2917 | V>G | No |
ExAC gnomAD |
|
rs1295283373 | 2917 | V>L | No | gnomAD | |
rs1408920905 | 2920 | Q>R | No | gnomAD | |
COSM3914804 COSM3914803 rs184120997 |
2921 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 2922 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs138111643 | 2923 | F>V | No |
ESP ExAC |
|
COSM1037564 COSM1037562 |
2924 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs773899376 | 2924 | R>Q | No |
ExAC gnomAD |
|
rs889918445 COSM4113000 COSM4112999 |
2924 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
COSM1037567 COSM1037565 rs761079499 |
2926 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs2063301425 | 2927 | P>R | No | gnomAD | |
rs2150846727 | 2928 | T>S | No | Ensembl | |
rs1312051017 | 2929 | A>T | No | gnomAD | |
rs1388812717 | 2930 | A>S | No | Ensembl | |
rs2063301657 | 2931 | T>A | No | Ensembl | |
rs771326367 | 2932 | C>S | No |
ExAC gnomAD |
|
TCGA novel | 2935 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777119108 | 2936 | P>S | No | ExAC | |
rs1007277124 | 2940 | P>L | No |
TOPMed gnomAD |
|
rs1007277124 | 2940 | P>R | No |
TOPMed gnomAD |
|
rs2063302381 | 2942 | N>D | No | Ensembl | |
rs56410073 | 2944 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1579105531 | 2945 | Y>H | No | Ensembl | |
rs61742365 | 2946 | S>F | No | Ensembl | |
TCGA novel | 2947 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs891159734 | 2948 | I>L | No |
TOPMed gnomAD |
|
rs762977163 | 2948 | I>M | No |
ExAC gnomAD |
|
rs1579105590 | 2948 | I>T | No | Ensembl | |
rs2150847110 | 2949 | P>H | No | Ensembl | |
rs2063303058 | 2950 | L>V | No | Ensembl | |
TCGA novel | 2950 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs764326162 | 2952 | T>A | No |
ExAC gnomAD |
|
rs1166296826 | 2952 | T>I | No | gnomAD | |
rs764326162 | 2952 | T>P | No |
ExAC gnomAD |
|
rs2063303503 | 2954 | R>C | No | Ensembl | |
rs1559891981 COSM727743 COSM727744 |
2954 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs1181671916 | 2958 | F>L | No | TOPMed | |
rs2063304007 | 2959 | I>V | No | Ensembl | |
COSM3800990 COSM3800989 |
2960 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 2961 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1484533 rs1368942316 COSM1484532 |
2961 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
TCGA novel | 2961 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1383359664 COSM3586683 COSM3586682 |
2962 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
COSM376401 rs144099513 COSM376402 |
2962 | R>H | lung large_intestine [Cosmic] | No |
cosmic curated ESP ExAC gnomAD |
rs1331799203 | 2964 | H>L | No | gnomAD | |
rs767482749 | 2966 | N>S | No |
ExAC gnomAD |
|
rs1430635505 | 2967 | D>H | No | gnomAD | |
rs2063304786 | 2968 | V>A | No | TOPMed | |
rs756057258 | 2969 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs201528333 | 2969 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2063305140 | 2971 | I>T | No | Ensembl | |
rs1397822018 | 2971 | I>V | No | gnomAD | |
rs2063305222 | 2972 | P>A | No | Ensembl | |
COSM3586684 COSM3586685 |
2972 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs16835896 | 2973 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1365077553 | 2975 | K>R | No | gnomAD | |
rs1343390519 | 2976 | S>I | No |
TOPMed gnomAD |
|
rs1343390519 | 2976 | S>N | No |
TOPMed gnomAD |
|
rs754497724 | 2977 | Y>C | No |
ExAC gnomAD |
|
rs2063306052 | 2978 | I>V | No |
TOPMed gnomAD |
|
COSM3748211 COSM3748210 |
2979 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs778598503 | 2980 | N>K | No |
ExAC gnomAD |
|
rs2063306138 | 2980 | N>S | No | Ensembl | |
rs747822809 | 2981 | R>L | No |
ExAC TOPMed gnomAD |
|
rs747822809 | 2981 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs957655134 | 2981 | R>W | No |
TOPMed gnomAD |
|
rs2063306537 | 2984 | Q>E | No | TOPMed | |
rs201184140 | 2984 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs776926854 | 2986 | T>M | No |
ExAC TOPMed gnomAD |
|
rs776926854 | 2986 | T>R | No |
ExAC TOPMed gnomAD |
|
rs2063307089 | 2987 | T>Q | No | TOPMed | |
rs2063307172 | 2987 | T>W | No | TOPMed |
No associated diseases with O60229
26 regional properties for O60229
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Dbl homology (DH) domain | 1281 - 1456 | IPR000219-1 |
domain | Dbl homology (DH) domain | 1929 - 2104 | IPR000219-2 |
domain | Protein kinase domain | 2684 - 2938 | IPR000719 |
domain | CRAL-TRIO lipid binding domain | 35 - 181 | IPR001251 |
domain | SH3 domain | 1646 - 1711 | IPR001452-1 |
domain | SH3 domain | 2321 - 2386 | IPR001452-2 |
domain | Pleckstrin homology domain | 1468 - 1582 | IPR001849-1 |
domain | Pleckstrin homology domain | 2116 - 2228 | IPR001849-2 |
repeat | Spectrin repeat | 311 - 414 | IPR002017-1 |
repeat | Spectrin repeat | 540 - 640 | IPR002017-2 |
repeat | Spectrin repeat | 891 - 998 | IPR002017-3 |
repeat | Spectrin repeat | 1132 - 1227 | IPR002017-4 |
domain | Immunoglobulin subtype 2 | 2483 - 2555 | IPR003598 |
domain | Immunoglobulin subtype | 2477 - 2566 | IPR003599 |
domain | Fibronectin type III | 2569 - 2665 | IPR003961 |
domain | Immunoglobulin-like domain | 2471 - 2564 | IPR007110 |
active_site | Serine/threonine-protein kinase, active site | 2799 - 2811 | IPR008271 |
domain | Immunoglobulin I-set | 2471 - 2565 | IPR013098 |
binding_site | Protein kinase, ATP binding site | 2690 - 2713 | IPR017441 |
repeat | Spectrin/alpha-actinin | 190 - 536 | IPR018159-1 |
repeat | Spectrin/alpha-actinin | 537 - 766 | IPR018159-2 |
repeat | Spectrin/alpha-actinin | 891 - 1129 | IPR018159-3 |
repeat | Spectrin/alpha-actinin | 1133 - 1235 | IPR018159-4 |
domain | Kalirin/Triple functional domain protein, SH3 domain 1 | 1649 - 1708 | IPR028570 |
domain | Kalirin/Triple functional domain protein, SH3 domain 2 | 2325 - 2383 | IPR047053 |
domain | Kalirin/Triple functional domain protein, pleckstrin homology (PH) domain 1 | 1461 - 1583 | IPR047054 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
7 GO annotations of cellular component
Name | Definition |
---|---|
actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
metal ion binding | Binding to a metal ion. |
protein serine kinase activity | Catalysis of the reactions |
protein serine/threonine kinase activity | Catalysis of the reactions |
8 GO annotations of biological process
Name | Definition |
---|---|
axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q86YR7 | MCF2L2 | Probable guanine nucleotide exchange factor MCF2L2 | Homo sapiens (Human) | SS |
O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
Q86VW2 | ARHGEF25 | Rho guanine nucleotide exchange factor 25 | Homo sapiens (Human) | EV |
P10911 | MCF2 | Proto-oncogene DBL | Homo sapiens (Human) | EV |
O15068 | MCF2L | Guanine nucleotide exchange factor DBS | Homo sapiens (Human) | SS |
Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
Q64096 | Mcf2l | Guanine nucleotide exchange factor DBS | Mus musculus (Mouse) | SS |
A2CG49 | Kalrn | Kalirin | Mus musculus (Mouse) | SS |
F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
Q63406 | Mcf2l | Guanine nucleotide exchange factor DBS | Rattus norvegicus (Rat) | SS |
P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MTDRFWDQWY | LWYLRLLRLL | DRGSFRNDGL | KASDVLPILK | EKVAFVSGGR | DKRGGPILTF |
70 | 80 | 90 | 100 | 110 | 120 |
PARSNHDRIR | QEDLRKLVTY | LASVPSEDVC | KRGFTVIIDM | RGSKWDLIKP | LLKTLQEAFP |
130 | 140 | 150 | 160 | 170 | 180 |
AEIHVALIIK | PDNFWQKQKT | NFGSSKFIFE | TSMVSVEGLT | KLVDPSQLTE | EFDGSLDYNH |
190 | 200 | 210 | 220 | 230 | 240 |
EEWIELRLSL | EEFFNSAVHL | LSRLEDLQEM | LARKEFPVDV | EGSRRLIDEH | TQLKKKVLKA |
250 | 260 | 270 | 280 | 290 | 300 |
PVEELDREGQ | RLLQCIRCSD | GFSGRNCIPG | SADFQSLVPK | ITSLLDKLHS | TRQHLHQMWH |
310 | 320 | 330 | 340 | 350 | 360 |
VRKLKLDQCF | QLRLFEQDAE | KMFDWISHNK | ELFLQSHTEI | GVSYQYALDL | QTQHNHFAMN |
370 | 380 | 390 | 400 | 410 | 420 |
SMNAYVNINR | IMSVASRLSE | AGHYASQQIK | QISTQLDQEW | KSFAAALDER | STILAMSAVF |
430 | 440 | 450 | 460 | 470 | 480 |
HQKAEQFLSG | VDAWCKMCSE | GGLPSEMQDL | ELAIHHHQTL | YEQVTQAYTE | VSQDGKALLD |
490 | 500 | 510 | 520 | 530 | 540 |
VLQRPLSPGN | SESLTATANY | SKAVHQVLDV | VHEVLHHQRR | LESIWQHRKV | RLHQRLQLCV |
550 | 560 | 570 | 580 | 590 | 600 |
FQQDVQQVLD | WIENHGEAFL | SKHTGVGKSL | HRARALQKRH | DDFEEVAQNT | YTNADKLLEA |
610 | 620 | 630 | 640 | 650 | 660 |
AEQLAQTGEC | DPEEIYKAAR | HLEVRIQDFV | RRVEQRKLLL | DMSVSFHTHT | KELWTWMEDL |
670 | 680 | 690 | 700 | 710 | 720 |
QKEMLEDVCA | DSVDAVQELI | KQFQQQQTAT | LDATLNVIKE | GEDLIQQLRS | APPSLGEPSE |
730 | 740 | 750 | 760 | 770 | 780 |
ARDSAVSNNK | TPHSSSISHI | ESVLQQLDDA | QVQMEELFHE | RKIKLDIFLQ | LRIFEQYTIE |
790 | 800 | 810 | 820 | 830 | 840 |
VTAELDAWNE | DLLRQMNDFN | TEDLTLAEQR | LQRHTERKLA | MNNMTFEVIQ | QGQDLHQYIT |
850 | 860 | 870 | 880 | 890 | 900 |
EVQASGIELI | CEKDIDLAAQ | VQELLEFLHE | KQHELELNAE | QTHKRLEQCL | QLRHLQAEVK |
910 | 920 | 930 | 940 | 950 | 960 |
QVLGWIRNGE | SMLNASLVNA | SSLSEAEQLQ | REHEQFQLAI | ESLFHATSLQ | KTHQSALQVQ |
970 | 980 | 990 | 1000 | 1010 | 1020 |
QKAEVLLQAG | HYDADAIREC | AEKVALHWQQ | LMLKMEDRLK | LVNASVAFYK | TSEQVCSVLE |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
SLEQEYRRDE | DWCGGRDKLG | PAAEIDHVIP | LISKHLEQKE | AFLKACTLAR | RNAEVFLKYI |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
HRNNVSMPSV | ASHTRGPEQQ | VKAILSELLQ | RENRVLHFWT | LKKRRLDQCQ | QYVVFERSAK |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
QALDWIQETG | EFYLSTHTST | GETTEETQEL | LKEYGEFRVP | AKQTKEKVKL | LIQLADSFVE |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
KGHIHATEIR | KWVTTVDKHY | RDFSLRMGKY | RYSLEKALGV | NTEDNKDLEL | DIIPASLSDR |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
EVKLRDANHE | VNEEKRKSAR | KKEFIMAELL | QTEKAYVRDL | HECLETYLWE | MTSGVEEIPP |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
GILNKEHIIF | GNIQEIYDFH | NNIFLKELEK | YEQLPEDVGH | CFVTWADKFQ | MYVTYCKNKP |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
DSNQLILEHA | GTFFDEIQQR | HGLANSISSY | LIKPVQRITK | YQLLLKELLT | CCEEGKGELK |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
DGLEVMLSVP | KKANDAMHVS | MLEGFDENLD | VQGELILQDA | FQVWDPKSLI | RKGRERHLFL |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
FEISLVFSKE | IKDSSGHTKY | VYKNKLLTSE | LGVTEHVEGD | PCKFALWSGR | TPSSDNKTVL |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
KASNIETKQE | WIKNIREVIQ | ERIIHLKGAL | KEPLQLPKTP | AKQRNNSKRD | GVEDIDSQGD |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
GSSQPDTISI | ASRTSQNTVD | SDKLSGGCEL | TVVLQDFSAG | HSSELTIQVG | QTVELLERPS |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
ERPGWCLVRT | TERSPPLEGL | VPSSALCISH | SRSSVEMDCF | FPLVKDAYSH | SSSENGGKSE |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
SVANLQAQPS | LNSIHSSPGP | KRSTNTLKKW | LTSPVRRLNS | GKADGNIKKQ | KKVRDGRKSF |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
DLGSPKPGDE | TTPQGDSADE | KSKKGWGEDE | PDEESHTPLP | PPMKIFDNDP | TQDEMSSSLL |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
AARQASTEVP | TAADLVNAIE | KLVKNKLSLE | GSSYRGSLKD | PAGCLNEGMA | PPTPPKNPEE |
1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
EQKAKALRGR | MFVLNELVQT | EKDYVKDLGI | VVEGFMKRIE | EKGVPEDMRG | KDKIVFGNIH |
1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
QIYDWHKDFF | LAELEKCIQE | QDRLAQLFIK | HERKLHIYVW | YCQNKPRSEY | IVAEYDAYFE |
2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
EVKQEINQRL | TLSDFLIKPI | QRITKYQLLL | KDFLRYSEKA | GLECSDIEKA | VELMCLVPKR |
2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
CNDMMNLGRL | QGFEGTLTAQ | GKLLQQDTFY | VIELDAGMQS | RTKERRVFLF | EQIVIFSELL |
2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
RKGSLTPGYM | FKRSIKMNYL | VLEENVDNDP | CKFALMNRET | SERVVLQAAN | ADIQQAWVQD |
2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
INQVLETQRD | FLNALQSPIE | YQRKERSTAV | MRSQPARLPQ | ASPRPYSSVP | AGSEKPPKGS |
2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
SYNPPLPPLK | ISTSNGSPGF | EYHQPGDKFE | ASKQNDLGGC | NGTSSMAVIK | DYYALKENEI |
2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
CVSQGEVVQV | LAVNQQNMCL | VYQPASDHSP | AAEGWVPGSI | LAPLTKATAA | ESSDGSIKKS |
2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
CSWHTLRMRK | RAEVENTGKN | EATGPRKPKD | ILGNKVSVKE | TNSSEESECD | DLDPNTSMEI |
2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
LNPNFIQEVA | PEFLVPLVDV | TCLLGDTVIL | QCKVCGRPKP | TITWKGPDQN | ILDTDNSSAT |
2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
YTVSSCDSGE | ITLKICNLMP | QDSGIYTCIA | TNDHGTTSTS | ATVKVQGVPA | APNRPIAQER |
2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
SCTSVILRWL | PPSSTGNCTI | SGYTVEYREE | GSQIWQQSVA | STLDTYLVIE | DLSPGCPYQF |
2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
RVSASNPWGI | SLPSEPSEFV | RLPEYDAAAD | GATISWKENF | DSAYTELNEI | GRGRFSIVKK |
2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
CIHKATRKDV | AVKFVSKKMK | KKEQAAHEAA | LLQHLQHPQY | ITLHDTYESP | TSYILILELM |
2770 | 2780 | 2790 | 2800 | 2810 | 2820 |
DDGRLLDYLM | NHDELMEEKV | AFYIRDIMEA | LQYLHNCRVA | HLDIKPENLL | IDLRIPVPRV |
2830 | 2840 | 2850 | 2860 | 2870 | 2880 |
KLIDLEDAVQ | ISGHFHIHHL | LGNPEFAAPE | VIQGIPVSLG | TDIWSIGVLT | YVMLSGVSPF |
2890 | 2900 | 2910 | 2920 | 2930 | 2940 |
LDESKEETCI | NVCRVDFSFP | HEYFCGVSNA | ARDFINVILQ | EDFRRRPTAA | TCLQHPWLQP |
2950 | 2960 | 2970 | 2980 | ||
HNGSYSKIPL | DTSRLACFIE | RRKHQNDVRP | IPNVKSYIVN | RVNQGT |