Q8TDY4
Gene name |
ASAP3 (DDEFL1, UPLC1) |
Protein name |
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 |
Names |
Development and differentiation-enhancing factor-like 1 , Protein up-regulated in liver cancer 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55616 |
EC number |
|
Protein Class |
|
Descriptions
Autoinhibitory domains (AIDs)
Target domain |
304-391 (PH domain);426-546 (Arf GAP domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q8TDY4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2B0O | X-ray | 206 A | E/F/G/H | 416-697 | PDB |
| 3LVQ | X-ray | 338 A | E | 416-697 | PDB |
| 3LVR | X-ray | 338 A | E | 416-697 | PDB |
| AF-Q8TDY4-F1 | Predicted | AlphaFoldDB |
967 variants for Q8TDY4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs929106916 | 2 | P>A | No | gnomAD | |
| rs1392057705 | 2 | P>L | No |
TOPMed gnomAD |
|
| rs1392057705 | 2 | P>R | No |
TOPMed gnomAD |
|
| rs929106916 | 2 | P>S | No | gnomAD | |
| rs1642414497 | 4 | Q>K | No | gnomAD | |
| rs1014533591 | 5 | F>V | No | TOPMed | |
| rs2148671568 | 6 | S>N | No | 1000Genomes | |
| rs1455934163 | 8 | A>T | No |
TOPMed gnomAD |
|
| rs1222403992 | 10 | F>L | No | gnomAD | |
| rs1438624260 | 12 | A>T | No | gnomAD | |
| rs983085875 | 13 | V>F | No |
TOPMed gnomAD |
|
| rs1200670115 | 15 | A>T | No | gnomAD | |
| rs2148671519 | 15 | A>V | No | Ensembl | |
| rs1452158487 | 16 | E>K | No | gnomAD | |
| rs1642408739 | 17 | D>N | No | Ensembl | |
| rs1266548307 | 18 | L>F | No |
TOPMed gnomAD |
|
| rs1266548307 | 18 | L>I | No |
TOPMed gnomAD |
|
| rs1343111724 | 19 | S>G | No | gnomAD | |
| rs1209383711 | 20 | S>F | No | gnomAD | |
| rs1012385676 | 21 | P>L | No |
TOPMed gnomAD |
|
| rs1012385676 | 21 | P>R | No |
TOPMed gnomAD |
|
| rs764931577 | 22 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1570430490 | 23 | G>E | No | Ensembl | |
| rs1241152128 | 23 | G>W | No | gnomAD | |
| rs2148671461 | 24 | A>P | No | Ensembl | |
| rs1642407331 | 27 | F>L | No | Ensembl | |
| rs1642407209 | 27 | F>S | No | TOPMed | |
| rs1642406320 | 30 | K>N | No |
TOPMed gnomAD |
|
| rs1032534820 | 30 | K>R | No |
TOPMed gnomAD |
|
| rs1032534820 | 30 | K>T | No |
TOPMed gnomAD |
|
| rs527492071 | 31 | M>K | No |
1000Genomes TOPMed gnomAD |
|
| rs1332249550 | 31 | M>V | No |
TOPMed gnomAD |
|
| rs980433406 | 32 | P>L | No | Ensembl | |
| rs902802355 | 32 | P>S | No |
TOPMed gnomAD |
|
| rs902802355 | 32 | P>T | No |
TOPMed gnomAD |
|
| rs1642405303 | 33 | R>W | No | TOPMed | |
| rs1403576954 | 35 | R>G | No | gnomAD | |
|
TCGA novel rs1642404685 |
35 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2148671375 | 37 | A>S | No | Ensembl | |
| rs1642404260 | 38 | A>G | No | Ensembl | |
| rs1298232633 | 40 | A>V | No | gnomAD | |
| rs1042378982 | 43 | E>K | No |
TOPMed gnomAD |
|
| rs1399862351 | 43 | E>V | No | TOPMed | |
| TCGA novel | 44 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1641379667 | 44 | I>F | No | Ensembl | |
| rs1343138857 | 44 | I>T | No | gnomAD | |
| rs1414621361 | 47 | G>R | No | gnomAD | |
| rs755067543 | 48 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs980790231 | 51 | I>T | No |
TOPMed gnomAD |
|
| rs1558153725 | 54 | R>G | No |
TOPMed gnomAD |
|
| TCGA novel | 54 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1641378631 | 55 | I>T | No | Ensembl | |
| rs766886545 | 57 | K>T | No |
ExAC gnomAD |
|
| rs1194566647 | 58 | A>G | No |
TOPMed gnomAD |
|
| rs750796854 | 59 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs750796854 | 59 | V>M | No |
ExAC TOPMed gnomAD |
|
|
rs765453970 COSM4029988 COSM4906466 |
60 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1340527 rs370249845 COSM4784477 |
60 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1558153630 | 61 | A>V | No | Ensembl | |
| rs369898744 | 62 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1202143420 | 63 | H>R | No | gnomAD | |
| rs1003293425 | 64 | S>N | No | gnomAD | |
| rs763627912 | 65 | S>Y | No |
ExAC gnomAD |
|
| rs142619271 | 66 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs141249142 | 68 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1479970825 | 71 | E>D | No |
TOPMed gnomAD |
|
| rs1221740339 | 74 | E>Q | No | gnomAD | |
| rs768995083 | 75 | Q>* | No |
ExAC gnomAD |
|
| rs747134598 | 77 | R>* | No |
ExAC gnomAD |
|
|
rs148331468 COSM906226 COSM4875637 |
77 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs771999248 | 79 | A>V | No |
ExAC gnomAD |
|
| rs201389143 | 80 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201389143 | 80 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199778394 | 81 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs755800424 | 82 | S>C | No |
ExAC gnomAD |
|
| rs755800424 | 82 | S>Y | No |
ExAC gnomAD |
|
| rs985873101 | 84 | G>R | No |
TOPMed gnomAD |
|
| rs758935550 | 85 | N>K | No |
ExAC TOPMed gnomAD |
|
|
COSM906225 COSM4871035 |
86 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372043920 | 86 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1417694845 | 87 | H>P | No |
TOPMed gnomAD |
|
| rs1417694845 | 87 | H>R | No |
TOPMed gnomAD |
|
| rs766403675 | 90 | Q>* | No |
ExAC gnomAD |
|
| rs1056622939 | 90 | Q>H | No | TOPMed | |
| rs762907646 | 91 | N>I | No |
ExAC gnomAD |
|
| rs764882440 | 91 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs762907646 | 91 | N>T | No |
ExAC gnomAD |
|
| rs775536140 | 93 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs537036849 | 93 | H>R | No |
1000Genomes ExAC gnomAD |
|
| rs772237023 | 94 | E>G | No |
ExAC gnomAD |
|
| rs774900879 | 98 | G>A | No |
ExAC gnomAD |
|
|
COSM4906339 rs774900879 COSM4029987 |
98 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC gnomAD |
| rs749734430 | 100 | L>R | No |
ExAC gnomAD |
|
| rs1641367009 | 103 | A>V | No | Ensembl | |
|
TCGA novel rs1641366823 |
104 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs756392232 | 106 | T>I | No |
ExAC gnomAD |
|
| rs374686646 | 107 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs138253513 | 107 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs138253513 | 107 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1361297937 | 108 | E>D | No | gnomAD | |
| rs141822254 | 108 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs759839502 | 111 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750338035 | 113 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1195302448 | 114 | K>R | No | gnomAD | |
| rs1641365413 | 116 | L>M | No | TOPMed | |
| rs1388417392 | 118 | Q>E | No | TOPMed | |
| rs1327158802 | 118 | Q>H | No | TOPMed | |
| rs763887626 | 119 | N>D | No |
ExAC gnomAD |
|
| rs201194561 | 120 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs751737672 | 121 | N>D | No |
ExAC gnomAD |
|
| rs1020860248 | 122 | N>S | No |
TOPMed gnomAD |
|
| rs766482714 | 125 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs765877713 | 125 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs766482714 | 125 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1641260085 | 126 | F>L | No | TOPMed | |
| rs1429232807 | 127 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 128 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770196583 | 131 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1558147385 | 132 | M>I | No | Ensembl | |
| rs762313460 | 134 | G>E | No |
ExAC gnomAD |
|
| rs1641259281 | 134 | G>R | No | Ensembl | |
| rs1641259145 | 135 | Q>H | No | gnomAD | |
| rs1641259042 | 136 | L>P | No |
TOPMed gnomAD |
|
| rs1027917730 | 138 | D>G | No |
TOPMed gnomAD |
|
| rs1162544595 | 139 | G>A | No |
TOPMed gnomAD |
|
| rs553500353 | 139 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1162544595 | 139 | G>V | No |
TOPMed gnomAD |
|
| rs746691583 | 140 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs139815549 | 140 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs139815549 | 140 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1050711146 | 141 | Q>K | No |
TOPMed gnomAD |
|
| rs745461334 | 144 | K>R | No |
ExAC gnomAD |
|
| rs745461334 | 144 | K>T | No |
ExAC gnomAD |
|
| rs1364974639 | 147 | L>M | No |
TOPMed gnomAD |
|
| rs1402553813 | 150 | A>S | No |
TOPMed gnomAD |
|
| rs1402553813 | 150 | A>T | No |
TOPMed gnomAD |
|
| rs770430325 | 150 | A>V | No |
ExAC gnomAD |
|
| rs1641212950 | 151 | W>* | No | Ensembl | |
| rs976560864 | 151 | W>C | No | TOPMed | |
| rs541333954 | 153 | D>N | No | 1000Genomes | |
| rs755791108 | 154 | Y>C | No |
ExAC gnomAD |
|
| rs1372591412 | 155 | E>D | No |
TOPMed gnomAD |
|
| rs1167001974 | 156 | A>S | No |
TOPMed gnomAD |
|
| rs755959425 | 158 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs755959425 | 158 | M>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM906160 COSM4873422 |
163 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs267598443 | 163 | K>R | No | Ensembl | |
|
COSM4868324 COSM906159 rs372166776 |
165 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| rs368844883 | 165 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs372166776 | 165 | R>S | No |
ESP TOPMed gnomAD |
|
| rs201699410 | 166 | D>E | No | 1000Genomes | |
| rs769725912 | 166 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs748019349 | 166 | D>V | No |
ExAC gnomAD |
|
| rs769725912 | 166 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs149730721 | 167 | R>L | No |
ESP ExAC gnomAD |
|
| rs149730721 | 167 | R>Q | No |
ESP ExAC gnomAD |
|
| rs867093977 | 167 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1202172050 | 168 | A>V | No |
TOPMed gnomAD |
|
| rs2148618984 | 170 | V>G | No | Ensembl | |
| rs561907649 | 171 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs757341327 | 172 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1640911822 | 173 | G>R | No | TOPMed | |
| rs374835567 | 175 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs764205375 | 177 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756706141 | 178 | V>A | No |
ExAC gnomAD |
|
| rs756706141 | 178 | V>G | No |
ExAC gnomAD |
|
| TCGA novel | 179 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1484349433 | 182 | M>T | No | gnomAD | |
| rs753210534 | 182 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs768029130 | 184 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs768029130 | 184 | R>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | E>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1272559168 | 186 | R>Q | No | TOPMed | |
| COSM5077892 | 186 | R>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM906158 rs759918483 COSM4872402 |
186 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs773929984 | 187 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1640909685 | 188 | I>M | No | TOPMed | |
| rs762445032 | 188 | I>T | No |
ExAC gnomAD |
|
| rs1204613089 | 189 | F>I | No | TOPMed | |
| rs772721348 | 189 | F>L | No |
ExAC gnomAD |
|
| rs769243302 | 190 | Q>* | No |
ExAC gnomAD |
|
| rs143888534 | 192 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs571052424 | 193 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs776519575 | 193 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1425586324 | 195 | E>K | No |
TOPMed gnomAD |
|
| rs1425586324 | 195 | E>Q | No |
TOPMed gnomAD |
|
| rs1640900049 | 198 | L>I | No | Ensembl | |
| rs1358455138 | 199 | K>R | No | TOPMed | |
| rs765029335 | 200 | A>P | No |
ExAC gnomAD |
|
| rs765029335 | 200 | A>T | No |
ExAC gnomAD |
|
| rs148831305 | 201 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs145225699 | 201 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763993163 | 202 | E>D | No |
ExAC gnomAD |
|
| rs1384156799 | 202 | E>G | No |
TOPMed gnomAD |
|
| rs1288724257 | 203 | S>G | No | gnomAD | |
| rs1429045642 | 203 | S>N | No | gnomAD | |
| rs1408685045 | 203 | S>R | No | gnomAD | |
| rs1177797265 | 204 | Q>H | No | gnomAD | |
| rs1432489440 | 207 | Q>R | No |
TOPMed gnomAD |
|
| rs1469706785 | 208 | G>S | No | gnomAD | |
| rs184865364 | 210 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1171880370 | 211 | F>L | No | gnomAD | |
| rs774899692 | 211 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs771711611 | 212 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs759278844 | 212 | L>P | No |
ExAC gnomAD |
|
| rs1570350191 | 214 | S>R | No | Ensembl | |
| rs1262023511 | 216 | I>M | No |
TOPMed gnomAD |
|
| rs780236449 | 217 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs138247317 | 218 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1243455932 | 218 | F>S | No |
TOPMed gnomAD |
|
| rs149194749 | 218 | F>V | No |
ESP ExAC gnomAD |
|
| rs1321272065 | 220 | H>R | No | gnomAD | |
| rs902677114 | 220 | H>Y | No |
TOPMed gnomAD |
|
| rs1229700736 | 221 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1308364543 | 221 | A>V | No | gnomAD | |
| rs867873164 | 222 | Q>R | No |
TOPMed gnomAD |
|
| rs780020089 | 224 | N>H | No |
ExAC gnomAD |
|
| rs377564938 | 226 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1640880962 | 227 | Q>H | No | Ensembl | |
| rs1640881070 | 227 | Q>R | No | TOPMed | |
| rs772133678 | 229 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs779082114 | 230 | W>R | No |
ExAC gnomAD |
|
| rs1558128496 | 235 | S>R | No | Ensembl | |
| rs777448053 | 237 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs957067693 | 238 | P>S | No | Ensembl | |
| rs1221949022 | 239 | F>Y | No | gnomAD | |
| rs200562976 | 241 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1240415847 | 242 | K>N | No |
TOPMed gnomAD |
|
| rs767623836 | 244 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs767623836 | 244 | A>G | No |
ExAC TOPMed gnomAD |
|
|
COSM4786344 COSM1340526 |
244 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767623836 | 244 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1640878967 | 245 | A>S | No | gnomAD | |
| rs1406232862 | 247 | V>A | No |
TOPMed gnomAD |
|
| rs1558128283 | 247 | V>I | No | Ensembl | |
| rs1174846779 | 248 | H>R | No |
TOPMed gnomAD |
|
| rs751156487 | 249 | A>G | No |
ExAC gnomAD |
|
| rs751066143 | 250 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs779724669 | 251 | H>R | No |
ExAC gnomAD |
|
| rs1558127821 | 252 | Q>* | No | Ensembl | |
|
COSM1245526 rs1640871077 |
253 | A>T | oesophagus [Cosmic] | No |
cosmic curated TOPMed |
| rs1470215991 | 254 | Q>P | No |
TOPMed gnomAD |
|
| rs758002450 | 255 | E>Q | No | ExAC | |
| rs185053013 | 257 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1411072031 | 259 | Q>H | No |
TOPMed gnomAD |
|
| rs1308569732 | 259 | Q>R | No |
TOPMed gnomAD |
|
| rs753097677 | 265 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs151232489 | 265 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1640869564 | 268 | L>F | No | TOPMed | |
| rs1206148186 | 269 | R>* | No |
TOPMed gnomAD |
|
| rs1558127593 | 269 | R>Q | No | Ensembl | |
| rs878948424 | 270 | G>E | No | Ensembl | |
| rs1378558930 | 271 | T>A | No |
TOPMed gnomAD |
|
| rs1462141855 | 273 | Q>P | No | gnomAD | |
| rs1640868814 | 274 | L>P | No | TOPMed | |
| rs760054820 | 275 | E>A | No |
ExAC gnomAD |
|
| rs774353425 | 275 | E>D | No |
ExAC gnomAD |
|
| rs1262011798 | 275 | E>Q | No |
TOPMed gnomAD |
|
| rs1640868340 | 276 | S>G | No | Ensembl | |
| TCGA novel | 278 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1640861110 | 280 | H>Q | No | TOPMed | |
| rs762139381 | 280 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs776502496 | 282 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs764768097 | 283 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs543667188 | 283 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1640860444 | 286 | S>* | No | Ensembl | |
| rs778504713 | 287 | G>E | No |
ExAC gnomAD |
|
| rs766940864 | 287 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs375411165 | 288 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1244804357 | 289 | G>D | No | Ensembl | |
| rs12117542 | 290 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1233000259 | 290 | Y>C | No | gnomAD | |
| rs1481906513 | 292 | I>M | No |
TOPMed gnomAD |
|
| rs1293473654 | 293 | H>Q | No | gnomAD | |
| rs1405779262 | 293 | H>Y | No |
TOPMed gnomAD |
|
| rs2148616779 | 294 | Q>* | No | Ensembl | |
| rs1640858861 | 294 | Q>R | No | TOPMed | |
| rs755317799 | 295 | H>Y | No |
ExAC gnomAD |
|
| rs1358503365 | 296 | Q>R | No | gnomAD | |
| rs1640858518 | 297 | G>S | No | TOPMed | |
| rs1287410261 | 298 | N>H | No | gnomAD | |
| rs1225443331 | 298 | N>K | No | gnomAD | |
| rs1287410261 | 298 | N>Y | No | gnomAD | |
| TCGA novel | 299 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs996978623 | 299 | K>R | No | Ensembl | |
| rs1640858054 | 301 | F>C | No | gnomAD | |
| rs1640857922 | 302 | G>R | No | Ensembl | |
| rs147482690 | 303 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640857534 | 305 | K>N | No |
TOPMed gnomAD |
|
| rs1004652228 | 306 | V>L | No | TOPMed | |
| rs1004652228 | 306 | V>M | No | TOPMed | |
| COSM1283525 | 307 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1640857200 | 307 | G>V | No |
TOPMed gnomAD |
|
| rs1348652867 | 308 | F>S | No | gnomAD | |
| rs1640856552 | 314 | D>G | No | Ensembl | |
| rs1640856344 | 315 | G>R | No | Ensembl | |
|
COSM4663599 COSM259520 rs760996705 |
317 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs760996705 | 317 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1240975876 | 317 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs17855027 | 319 | V>A | No | Ensembl | |
| rs2148613728 | 319 | V>F | No | Ensembl | |
| TCGA novel | 321 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752374798 | 321 | Q>H | No |
ExAC gnomAD |
|
| TCGA novel | 323 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs865808556 | 323 | R>G | No | Ensembl | |
| rs1640780515 | 323 | R>K | No | TOPMed | |
| TCGA novel | 324 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1183713 rs1234048915 |
325 | C>R | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs575123252 | 329 | Y>C | No | gnomAD | |
| rs74946314 | 331 | C>W | No |
ExAC gnomAD |
|
|
rs1216480001 COSM307999 |
331 | C>Y | biliary_tract [Cosmic] | No |
cosmic curated gnomAD |
|
COSM4948352 COSM1340524 |
333 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1320282388 | 333 | T>N | No | gnomAD | |
| rs1433578524 | 334 | I>L | No | gnomAD | |
| rs199508833 | 337 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558122616 | 337 | S>N | No | Ensembl | |
| rs772733929 | 338 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1640766184 | 339 | I>V | No | Ensembl | |
| rs746201608 | 341 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs768232484 | 341 | R>W | No |
ExAC gnomAD |
|
| rs1640765765 | 342 | P>S | No | Ensembl | |
| rs767252554 | 343 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs767252554 | 343 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1266348945 | 344 | V>E | No | gnomAD | |
| rs1570341625 | 345 | K>R | No | Ensembl | |
| rs1640765031 | 346 | L>V | No | Ensembl | |
| rs898562179 | 347 | T>A | No | TOPMed | |
| rs1244767462 | 347 | T>N | No |
TOPMed gnomAD |
|
| rs778486613 | 348 | L>P | No |
ExAC gnomAD |
|
| rs1409892131 | 350 | T>M | No |
TOPMed gnomAD |
|
|
COSM4815921 COSM1473652 |
352 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1640763921 | 352 | Q>R | No | Ensembl | |
| rs1640763806 | 353 | V>M | No | TOPMed | |
| rs1459798391 | 354 | R>G | No |
TOPMed gnomAD |
|
| rs1640763530 | 355 | P>L | No | Ensembl | |
| rs781440555 | 355 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs947451884 | 357 | P>L | No |
TOPMed gnomAD |
|
| rs1164705858 | 358 | E>G | No | TOPMed | |
| rs1640763236 | 359 | E>D | No | Ensembl | |
| rs1640763143 | 361 | K>N | No | Ensembl | |
| TCGA novel | 363 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1328713889 | 363 | F>L | No |
TOPMed gnomAD |
|
| rs747558021 | 364 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs747558021 | 364 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs199608986 | 368 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558119506 | 369 | N>H | No | Ensembl | |
| rs1640719734 | 370 | R>G | No | TOPMed | |
|
rs267598442 COSM414557 |
370 | R>Q | skin urinary_tract [Cosmic] | No |
cosmic curated TOPMed |
|
COSM4782626 COSM3418939 |
370 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781148535 | 371 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1640719516 | 371 | T>S | No | TOPMed | |
|
rs1640719150 COSM4787177 COSM1340523 |
372 | Y>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1218745257 | 373 | H>L | No |
TOPMed gnomAD |
|
| rs1640718944 | 374 | F>C | No | gnomAD | |
| rs902056583 | 374 | F>L | No |
TOPMed gnomAD |
|
| rs747227838 | 375 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs747227838 | 375 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1275928793 | 375 | Q>H | No |
TOPMed gnomAD |
|
|
TCGA novel rs747227838 |
375 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs1456591683 | 376 | A>T | No | gnomAD | |
|
rs16828486 RCV000974828 VAR_048295 |
377 | E>A | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
TCGA novel rs374474860 |
378 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD NCI-TCGA |
| rs1157001530 | 378 | D>N | No | gnomAD | |
|
rs750257839 COSM1667255 |
379 | E>K | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1640716490 | 381 | E>D | No | Ensembl | |
| rs1450243874 | 381 | E>K | No | gnomAD | |
| rs1450243874 | 381 | E>Q | No | gnomAD | |
| rs1022608784 | 382 | C>R | No | TOPMed | |
| rs757164442 | 382 | C>Y | No | ExAC | |
| rs1640716139 | 383 | E>D | No | Ensembl | |
| rs1640716012 | 384 | A>E | No | Ensembl | |
| rs899616384 | 386 | V>A | No | TOPMed | |
| rs1362697688 | 389 | L>F | No |
TOPMed gnomAD |
|
| rs1640709621 | 389 | L>W | No | Ensembl | |
| rs1640709239 | 394 | D>G | No | TOPMed | |
| rs1448620878 | 395 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1341167760 | 396 | A>S | No | gnomAD | |
| rs1325835739 | 398 | S>G | No |
TOPMed gnomAD |
|
| rs762296900 | 398 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs776982932 | 399 | S>R | No |
ExAC gnomAD |
|
| rs200129246 | 400 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200129246 | 400 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200129246 | 400 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640708078 | 401 | F>L | No | TOPMed | |
| rs1161048318 | 401 | F>L | No | gnomAD | |
| TCGA novel | 402 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1297800172 | 403 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1184132863 | 404 | E>A | No | gnomAD | |
| rs1346908048 | 404 | E>D | No | gnomAD | |
| rs775567666 | 404 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs772223774 | 405 | P>S | No |
ExAC gnomAD |
|
| rs2148610616 | 407 | A>G | No | Ensembl | |
| rs1179019500 | 407 | A>P | No | TOPMed | |
| rs1179019500 | 407 | A>T | No | TOPMed | |
| TCGA novel | 408 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1439257454 | 409 | P>A | No | gnomAD | |
|
COSM1172120 rs1570338178 |
409 | P>L | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs1570338178 | 409 | P>R | No | Ensembl | |
| rs1203916884 | 410 | G>A | No |
TOPMed gnomAD |
|
| rs1203916884 | 410 | G>E | No |
TOPMed gnomAD |
|
| rs1403997568 | 410 | G>R | No |
TOPMed gnomAD |
|
| rs770615390 | 412 | W>* | No |
ExAC TOPMed gnomAD |
|
| rs770615390 | 412 | W>C | No |
ExAC TOPMed gnomAD |
|
| rs1293612193 | 413 | G>E | No | gnomAD | |
| rs1640704886 | 414 | S>F | No | gnomAD | |
| rs1570338054 | 414 | S>P | No | Ensembl | |
| rs749154152 | 415 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs987899392 | 416 | G>S | No | Ensembl | |
| rs570022866 | 416 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs548083247 | 417 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752198805 | 418 | D>N | No |
ExAC gnomAD |
|
| rs1640704020 | 419 | G>E | No | gnomAD | |
| rs1640703913 | 420 | E>K | No |
TOPMed gnomAD |
|
| rs374050468 | 421 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1308897783 | 422 | H>Q | No |
TOPMed gnomAD |
|
| rs1640703208 | 423 | D>N | No | TOPMed | |
| rs1409385869 | 424 | L>F | No | gnomAD | |
|
COSM4029908 COSM4906777 |
425 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1167304433 | 427 | L>P | No | gnomAD | |
| rs1017856685 | 427 | L>V | No |
TOPMed gnomAD |
|
| rs780857824 | 428 | L>F | No |
ExAC gnomAD |
|
| rs754606408 | 429 | I>L | No |
ExAC gnomAD |
|
| rs754606408 | 429 | I>V | No |
ExAC gnomAD |
|
| rs146159261 | 430 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146159261 | 430 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1390922769 | 432 | V>G | No | Ensembl | |
| rs766105033 | 432 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs766105033 | 432 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs370693470 | 433 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs58233188 | 436 | P>T | No | Ensembl | |
| rs1433166891 | 437 | G>E | No |
TOPMed gnomAD |
|
| rs1375059299 | 438 | N>T | No |
TOPMed gnomAD |
|
| rs1287648210 | 439 | S>N | No | gnomAD | |
| rs1159085013 | 440 | Q>R | No | TOPMed | |
| rs1421257813 | 441 | C>S | No | Ensembl | |
| rs1225353539 | 442 | C>* | No | gnomAD | |
| rs1640700227 | 442 | C>R | No | Ensembl | |
| rs775481841 | 443 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1289039830 | 444 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1289039830 | 444 | C>S | No |
TOPMed gnomAD |
|
| rs1640699512 | 445 | G>R | No | TOPMed | |
| rs1228054866 | 446 | A>T | No | gnomAD | |
| rs1640699159 | 446 | A>V | No | Ensembl | |
| rs1640699041 | 447 | A>V | No | Ensembl | |
| rs1432211584 | 448 | D>E | No | gnomAD | |
| TCGA novel | 448 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs535978345 | 449 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs535978345 | 449 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640691790 | 450 | T>M | No | gnomAD | |
| rs1247355325 | 451 | W>* | No | gnomAD | |
| rs1206672294 | 452 | L>F | No | gnomAD | |
| rs1211150923 | 453 | S>G | No |
TOPMed gnomAD |
|
| rs1640691008 | 453 | S>N | No | Ensembl | |
| rs1640690901 | 454 | T>P | No | TOPMed | |
| rs778264601 | 455 | N>S | No | Ensembl | |
|
COSM4812794 COSM3804489 |
458 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1278723620 | 458 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1231055850 | 459 | L>P | No | gnomAD | |
| rs1297550865 | 460 | T>FF* | No | gnomAD | |
| rs926573438 | 461 | C>G | No | gnomAD | |
| rs926573438 | 461 | C>R | No | gnomAD | |
| rs1640689769 | 462 | I>S | No | Ensembl | |
| rs547079352 | 463 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640689359 | 465 | S>A | No | TOPMed | |
| rs759500482 | 465 | S>L | No |
ExAC gnomAD |
|
| rs1430175288 | 466 | G>D | No | gnomAD | |
| rs1195332557 | 466 | G>S | No | TOPMed | |
| rs773639283 | 467 | V>A | No |
ExAC gnomAD |
|
| rs773639283 | 467 | V>D | No |
ExAC gnomAD |
|
| rs768411529 | 467 | V>F | No |
ExAC gnomAD |
|
| rs768411529 | 467 | V>I | No |
ExAC gnomAD |
|
| rs769703053 | 469 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1182517714 | 469 | R>H | No | gnomAD | |
| rs1182517714 | 469 | R>P | No | gnomAD | |
| rs866071019 | 470 | E>K | No | gnomAD | |
| rs866071019 | 470 | E>Q | No | gnomAD | |
| rs1640686665 | 471 | L>R | No | gnomAD | |
| rs776680053 | 471 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1343345246 | 472 | G>C | No | gnomAD | |
| rs1274337752 | 472 | G>V | No | gnomAD | |
| rs2148609664 | 473 | V>G | No | Ensembl | |
| rs373421354 | 474 | R>C | No |
ESP ExAC gnomAD |
|
| rs1357736082 | 476 | S>L | No |
TOPMed gnomAD |
|
| rs1309509905 | 477 | R>C | No | gnomAD | |
| rs778593616 | 477 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs778593616 | 477 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs778593616 | 477 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM679950 rs2148609597 |
478 | M>I | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs753097379 | 478 | M>L | No |
ExAC gnomAD |
|
| rs753097379 | 478 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs767969077 | 479 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1368974647 | 480 | S>L | No | gnomAD | |
| rs1640684635 | 480 | S>P | No | Ensembl | |
| rs1640684249 | 483 | L>S | No | TOPMed | |
| rs751529728 | 485 | L>P | No |
ExAC gnomAD |
|
| rs751529728 | 485 | L>Q | No |
ExAC gnomAD |
|
| rs1255427123 | 487 | G>C | No |
TOPMed gnomAD |
|
| rs766479444 | 487 | G>D | No |
ExAC gnomAD |
|
|
COSM4907029 COSM4029907 |
489 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1194418704 | 490 | E>D | No | gnomAD | |
| rs748937105 | 493 | L>Q | No |
ExAC gnomAD |
|
| rs777351413 | 494 | A>T | No |
ExAC gnomAD |
|
| rs148723559 | 495 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs747377864 | 496 | N>S | No |
ExAC gnomAD |
|
| rs758852504 | 497 | M>V | No |
ExAC gnomAD |
|
|
COSM4905843 COSM4406187 |
499 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750474928 | 500 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs750474928 | 500 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs757477745 | 501 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs754099357 | 503 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1640665669 | 504 | E>K | No | Ensembl | |
| rs1640665475 | 506 | M>L | No | Ensembl | |
| rs764271686 | 506 | M>T | No |
ExAC gnomAD |
|
| rs1462897349 | 508 | A>S | No | gnomAD | |
| rs1558115674 | 508 | A>V | No | TOPMed | |
| rs1325983637 | 509 | Q>R | No |
TOPMed gnomAD |
|
| TCGA novel | 510 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558115603 | 510 | L>R | No | Ensembl | |
| rs752462758 | 510 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs759480430 | 512 | S>T | No |
ExAC gnomAD |
|
|
rs934970877 COSM318791 |
513 | H>Q | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs774341386 | 515 | G>A | No |
ExAC gnomAD |
|
| rs1433253626 | 515 | G>S | No | gnomAD | |
| rs1223362377 | 516 | P>A | No | gnomAD | |
|
COSM110341 rs140530758 |
516 | P>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs140530758 | 516 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs201865670 | 517 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640662944 | 518 | P>R | No | Ensembl | |
| rs1446404100 | 518 | P>S | No |
TOPMed gnomAD |
|
| rs2148608642 | 520 | A>P | No | Ensembl | |
| rs772894513 | 522 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs769362757 | 523 | D>V | No |
ExAC gnomAD |
|
| rs1393152364 | 524 | M>I | No | gnomAD | |
| rs1208226628 | 524 | M>T | No | gnomAD | |
| rs202004624 | 525 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs202004624 | 525 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs371915285 | 527 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs1640640127 | 527 | R>H | No |
TOPMed gnomAD |
|
| rs1640640127 | 527 | R>L | No |
TOPMed gnomAD |
|
| rs1468439191 | 528 | R>K | No | gnomAD | |
| rs1176202439 | 528 | R>W | No | gnomAD | |
| rs771591906 | 529 | D>G | No |
ExAC gnomAD |
|
| rs1450958311 | 530 | Y>S | No | gnomAD | |
| rs749337388 | 533 | A>S | No |
ExAC gnomAD |
|
| rs749337388 | 533 | A>T | No |
ExAC gnomAD |
|
| rs756289914 | 535 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs1208575887 | 535 | Y>C | No |
TOPMed gnomAD |
|
| rs1260276184 | 535 | Y>H | No |
TOPMed gnomAD |
|
| rs1640638568 | 536 | V>M | No | TOPMed | |
| rs1223379693 | 538 | H>D | No | gnomAD | |
| rs1371689742 | 538 | H>R | No | gnomAD | |
| rs1223379693 | 538 | H>Y | No | gnomAD | |
| rs200891347 | 539 | R>S | No |
TOPMed gnomAD |
|
| TCGA novel | 540 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1211868023 | 541 | A>T | No |
TOPMed gnomAD |
|
| rs1640637874 | 541 | A>V | No | TOPMed | |
|
COSM4897974 COSM2048481 rs781443284 |
542 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs751387661 | 542 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs751387661 | 542 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs781443284 | 542 | R>S | No |
ExAC gnomAD |
|
| rs148195646 | 543 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs766259434 COSM4906991 COSM2048480 |
543 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs749884891 | 544 | C>G | No |
ExAC TOPMed gnomAD |
|
| rs2148607484 | 544 | C>Y | No | Ensembl | |
| rs997600722 | 545 | T>A | No |
TOPMed gnomAD |
|
| rs1252602653 | 545 | T>I | No |
TOPMed gnomAD |
|
| rs764651704 | 546 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs761441284 | 547 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1191541107 | 548 | P>L | No |
TOPMed gnomAD |
|
| rs753407192 | 550 | R>* | No |
ExAC gnomAD |
|
| rs763875974 | 550 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1640634875 | 553 | T>I | No | gnomAD | |
| rs759935282 | 553 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs774877977 | 554 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs144216953 | 555 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1315349029 | 555 | I>V | No | gnomAD | |
| rs867114979 | 557 | N>S | No | TOPMed | |
| rs1570332704 | 559 | D>A | No | TOPMed | |
| rs1570332704 | 559 | D>G | No | TOPMed | |
| rs773834302 | 560 | L>F | No |
ExAC gnomAD |
|
| rs769741844 | 562 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1640633190 | 563 | V>L | No | TOPMed | |
| rs1428282217 | 564 | L>R | No | gnomAD | |
| rs1640632565 | 566 | A>D | No | Ensembl | |
| rs781353121 | 566 | A>T | No |
ExAC gnomAD |
|
|
rs1640632565 COSM1718098 |
566 | A>V | NS [Cosmic] | No |
cosmic curated Ensembl |
| rs1247642331 | 568 | A>T | No | gnomAD | |
| rs768889298 | 568 | A>V | No |
ExAC gnomAD |
|
|
COSM4924954 COSM4924955 |
569 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1392979876 | 573 | F>C | No |
TOPMed gnomAD |
|
| rs1570332590 | 573 | F>L | No | Ensembl | |
| rs746752156 | 573 | F>L | No |
ExAC gnomAD |
|
| rs1392979876 | 573 | F>S | No |
TOPMed gnomAD |
|
| rs1170461118 | 575 | Q>H | No |
TOPMed gnomAD |
|
| rs758282757 | 576 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs779832556 | 576 | P>S | No |
ExAC gnomAD |
|
| rs1383329095 | 577 | L>P | No | gnomAD | |
| rs889574490 | 579 | G>R | No | Ensembl | |
| rs1484902922 | 580 | P>R | No | gnomAD | |
| rs1640630780 | 580 | P>S | No | Ensembl | |
| rs778956024 | 583 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs754323088 | 584 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs146392307 | 585 | P>S | No |
ESP ExAC TOPMed |
|
| rs2148605134 | 589 | V>A | No | Ensembl | |
|
COSM5380189 COSM5380188 rs150324380 |
589 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1558110399 | 591 | H>R | No | Ensembl | |
|
COSM906134 COSM4870539 |
593 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774503253 | 594 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs774503253 | 594 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs188720319 | 595 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs188720319 | 595 | K>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2148605099 | 596 | V>I | No | Ensembl | |
| rs769875873 | 597 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs747605318 | 597 | A>V | No |
ExAC gnomAD |
|
| rs780758516 | 598 | N>K | No |
ExAC gnomAD |
|
| rs1388517844 | 598 | N>S | No |
TOPMed gnomAD |
|
| rs147652133 | 599 | Q>* | No |
ESP TOPMed |
|
| rs1325059983 | 600 | A>P | No | gnomAD | |
| rs1325059983 | 600 | A>S | No | gnomAD | |
| rs754516055 | 601 | S>A | No |
ExAC gnomAD |
|
| rs746663718 | 602 | L>P | No |
ExAC gnomAD |
|
| rs146999625 | 603 | P>R | No |
ESP ExAC gnomAD |
|
| rs1381717326 | 603 | P>S | No | TOPMed | |
| TCGA novel | 604 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180088185 | 605 | V>L | No | gnomAD | |
| rs754228983 | 611 | N>S | No |
ExAC gnomAD |
|
| rs201997487 | 612 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146395542 | 612 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs146395542 | 612 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558109607 | 613 | G>D | No | Ensembl | |
| rs1270636026 | 613 | G>R | No | gnomAD | |
| rs1640556624 | 616 | D>N | No | TOPMed | |
| rs751614263 | 616 | D>V | No |
ExAC gnomAD |
|
| rs1416833360 | 617 | A>S | No | gnomAD | |
| VAR_035612 | 617 | A>T | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
| rs1640556161 | 618 | K>Q | No | Ensembl | |
| rs1001003079 | 619 | A>P | No |
TOPMed gnomAD |
|
| rs1001003079 | 619 | A>S | No |
TOPMed gnomAD |
|
| rs1001003079 | 619 | A>T | No |
TOPMed gnomAD |
|
| rs766652020 | 620 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs766652020 | 620 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs142199725 | 621 | D>V | No |
ESP ExAC |
|
| rs1422293595 | 622 | G>R | No |
TOPMed gnomAD |
|
| rs765114680 | 623 | N>K | No |
ExAC gnomAD |
|
| rs1168932160 | 623 | N>S | No | gnomAD | |
| rs1370816480 | 624 | T>M | No |
TOPMed gnomAD |
|
| TCGA novel | 625 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256614078 | 627 | H>R | No | gnomAD | |
| rs1483547288 | 628 | Y>C | No |
TOPMed gnomAD |
|
| rs768510202 | 628 | Y>H | No |
ExAC gnomAD |
|
| rs774990747 | 629 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1021198071 | 629 | A>V | No | Ensembl | |
| rs1226914515 | 630 | A>G | No |
TOPMed gnomAD |
|
| rs1226914515 | 630 | A>V | No |
TOPMed gnomAD |
|
| rs771643051 | 631 | L>F | No |
ExAC gnomAD |
|
| rs745515586 | 632 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs745515586 | 632 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs1235446816 | 633 | N>S | No |
TOPMed gnomAD |
|
| rs1292843140 | 634 | Q>H | No | gnomAD | |
| rs778595220 | 634 | Q>K | No |
ExAC gnomAD |
|
| rs1640552706 | 635 | P>R | No | gnomAD | |
| rs748500137 | 636 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs113419927 | 636 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs113419927 | 636 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1640551840 | 637 | C>F | No | Ensembl | |
| rs781690330 | 637 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1640551840 | 637 | C>S | No | Ensembl | |
| rs1166448755 | 642 | L>P | No | gnomAD | |
| rs1166448755 | 642 | L>R | No | gnomAD | |
| rs1640551201 | 643 | K>R | No | gnomAD | |
| TCGA novel | 646 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2148604365 | 647 | L>F | No | Ensembl | |
| rs1640550876 | 648 | V>A | No | Ensembl | |
| rs747044302 | 649 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs780277335 | 650 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640550351 | 651 | V>L | No | gnomAD | |
| rs758525430 | 654 | A>G | No |
ExAC gnomAD |
|
| rs757431221 | 656 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1045499733 | 656 | E>K | No |
TOPMed gnomAD |
|
| rs377297346 | 658 | A>P | No |
ESP TOPMed gnomAD |
|
| rs144319319 | 661 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640530621 | 662 | A>T | No | gnomAD | |
| rs763788327 | 662 | A>V | No |
ExAC gnomAD |
|
| rs1252335611 | 664 | K>Q | No | TOPMed | |
| rs1285148928 | 666 | H>Q | No |
TOPMed gnomAD |
|
| rs1318939999 | 666 | H>Y | No | gnomAD | |
| rs755994782 | 667 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1640529554 | 668 | K>* | No | Ensembl | |
| rs1346427181 | 669 | E>G | No | Ensembl | |
| rs138556791 | 669 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs767480290 | 670 | C>Y | No |
ExAC gnomAD |
|
| rs1289784579 | 671 | E>K | No |
TOPMed gnomAD |
|
| rs1323304625 | 673 | L>M | No | gnomAD | |
| rs1640523580 | 675 | E>K | No | gnomAD | |
| rs1640523348 | 676 | Q>H | No | TOPMed | |
| rs751566920 | 676 | Q>P | No |
ExAC gnomAD |
|
| rs1640523246 | 677 | A>T | No | Ensembl | |
|
COSM327590 rs146824903 |
678 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs199856800 | 678 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs146824903 | 678 | Q>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs750016708 | 679 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs750016708 | 679 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1570325855 | 681 | T>A | No | Ensembl | |
| rs1207185210 | 681 | T>N | No |
TOPMed gnomAD |
|
| rs368585298 | 682 | F>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs772638477 | 683 | A>S | No |
ExAC gnomAD |
|
| TCGA novel | 684 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1293453218 | 685 | P>L | No | gnomAD | |
| rs760113301 | 685 | P>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 686 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558107047 | 687 | H>P | No | gnomAD | |
| rs1413973552 | 687 | H>Q | No |
TOPMed gnomAD |
|
| rs774976959 | 688 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs770891821 | 689 | D>H | No |
ExAC gnomAD |
|
| rs1462404837 | 690 | Y>C | No | gnomAD | |
| rs1640520899 | 691 | S>C | No | Ensembl | |
|
COSM3705666 rs777818177 |
692 | W>* | Variant assessed as Somatic; HIGH impact. liver [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1389681761 | 692 | W>L | No |
TOPMed gnomAD |
|
| rs202006565 | 693 | V>I | No |
ESP TOPMed gnomAD |
|
| rs747871777 | 698 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs779202932 | 698 | P>S | No | Ensembl | |
| rs1473752826 | 699 | G>C | No |
TOPMed gnomAD |
|
| rs1025151450 | 700 | S>F | No | TOPMed | |
| rs1640519887 | 701 | D>N | No | Ensembl | |
| rs754828129 | 704 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1475099269 | 705 | D>A | No | gnomAD | |
| rs751431631 | 705 | D>N | No |
ExAC gnomAD |
|
|
COSM4908107 COSM3984864 |
708 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780083743 | 709 | K>N | No |
ExAC gnomAD |
|
| rs147016526 | 710 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs538117231 | 710 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs147016526 | 710 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2148602538 | 711 | C>S | No | Ensembl | |
| rs775363873 | 711 | C>S | No |
ExAC gnomAD |
|
| rs572873506 | 711 | C>W | No | gnomAD | |
| rs1372288784 | 713 | L>R | No | Ensembl | |
|
COSM5948358 COSM5948357 |
714 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1447445605 | 714 | K>T | No | gnomAD | |
| rs867590061 | 715 | L>F | No | Ensembl | |
| rs745800960 | 716 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs745800960 | 716 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs140136454 | 717 | A>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1329364609 | 717 | A>T | No | gnomAD | |
| rs748837787 | 718 | Q>* | No |
ExAC gnomAD |
|
| TCGA novel | 718 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs987009902 | 719 | A>V | No | Ensembl | |
| rs934139379 | 720 | H>D | No | Ensembl | |
| rs1199115201 | 720 | H>P | No | TOPMed | |
| rs921563421 | 721 | W>* | No | Ensembl | |
| rs1360365726 | 721 | W>R | No | gnomAD | |
| rs777516793 | 723 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1025100874 | 723 | S>R | No |
TOPMed gnomAD |
|
|
rs1558105763 COSM3485691 COSM4904065 |
724 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs182680450 | 727 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1307055619 | 728 | I>F | No | TOPMed | |
| rs1640506653 | 728 | I>M | No | Ensembl | |
| rs766753572 | 729 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs766753572 | 729 | S>R | No |
ExAC TOPMed gnomAD |
|
| COSM1320338 | 730 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1640506199 | 730 | N>S | No | gnomAD | |
| rs1374272725 | 731 | K>E | No |
TOPMed gnomAD |
|
| rs1343837442 | 733 | Y>C | No |
TOPMed gnomAD |
|
| rs750900769 | 734 | E>K | No |
ExAC gnomAD |
|
|
COSM4819232 COSM4819233 |
734 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765765843 | 736 | V>I | No |
ExAC gnomAD |
|
| rs1640505012 | 737 | A>G | No | Ensembl | |
| rs776707855 | 737 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs760951474 | 739 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs369920126 | 742 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs375702551 | 742 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs748749801 | 744 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs748749801 | 744 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1640503905 | 744 | P>T | No | Ensembl | |
| rs777425342 | 745 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1334144738 | 745 | Q>H | No | gnomAD | |
| rs962892972 | 745 | Q>R | No |
TOPMed gnomAD |
|
| rs1413237225 | 746 | G>S | No |
TOPMed gnomAD |
|
| rs199574094 | 747 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199574094 | 747 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640502708 | 748 | S>G | No | gnomAD | |
| rs1640502585 | 749 | E>* | No | TOPMed | |
| TCGA novel | 750 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM533471 COSM5255773 |
752 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1473082668 | 752 | P>T | No | TOPMed | |
| rs779337722 | 753 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1238161061 | 755 | L>F | No |
TOPMed gnomAD |
|
| rs754412905 | 757 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs750759674 | 758 | K>I | No |
ExAC gnomAD |
|
| rs750759674 | 758 | K>R | No |
ExAC gnomAD |
|
|
rs1640500565 COSM1737694 |
760 | S>F | central_nervous_system [Cosmic] | No |
cosmic curated TOPMed |
| rs200686258 | 761 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs144367386 | 761 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774299439 | 762 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs144247660 | 762 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs770925310 | 763 | T>N | No |
ExAC gnomAD |
|
| rs1390803033 | 764 | L>F | No | TOPMed | |
| rs1640499606 | 764 | L>S | No | Ensembl | |
| rs1008324836 | 764 | L>V | No | TOPMed | |
| rs2148602038 | 765 | V>I | No | Ensembl | |
| rs1446542381 | 766 | Q>P | No |
TOPMed gnomAD |
|
| rs1446542381 | 766 | Q>R | No |
TOPMed gnomAD |
|
| rs146778835 | 767 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640498671 | 769 | A>V | No | Ensembl | |
| rs375020208 | 771 | H>Q | No |
ESP TOPMed |
|
| rs531491670 | 771 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1397469444 | 771 | H>Y | No | gnomAD | |
| rs563984060 | 772 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1458473313 | 773 | S>G | No | TOPMed | |
| rs1640496905 | 774 | G>E | No | Ensembl | |
| rs1365961458 | 774 | G>R | No | Ensembl | |
| rs1174321740 | 775 | D>N | No | TOPMed | |
|
COSM1687202 rs768226542 |
776 | R>C | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs746655789 | 776 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs768226542 | 776 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775168497 | 778 | E>K | No |
ExAC gnomAD |
|
| rs1439647361 | 780 | S>C | No | gnomAD | |
| rs1640449252 | 780 | S>P | No | gnomAD | |
| rs577277489 | 781 | S>R | No |
1000Genomes ExAC gnomAD |
|
| rs1558102482 | 783 | S>I | No | Ensembl | |
| TCGA novel | 785 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1219616113 | 786 | A>V | No |
TOPMed gnomAD |
|
| rs868775351 | 788 | E>G | No | Ensembl | |
| rs749681544 | 788 | E>K | No |
ExAC gnomAD |
|
| rs778291824 | 789 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs756590732 | 789 | T>N | No |
ExAC gnomAD |
|
| rs1352166617 | 790 | P>S | No | gnomAD | |
| rs1293342577 | 792 | S>I | No |
TOPMed gnomAD |
|
| rs1293342577 | 792 | S>N | No |
TOPMed gnomAD |
|
| rs1293342577 | 792 | S>T | No |
TOPMed gnomAD |
|
|
COSM3485690 COSM4891773 |
796 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1381586758 | 797 | A>G | No | TOPMed | |
| rs886162370 | 799 | S>F | No | Ensembl | |
| rs781127739 | 800 | S>C | No |
ExAC TOPMed gnomAD |
|
|
COSM1687201 rs781127739 |
800 | S>F | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs565640692 | 801 | S>N | No | Ensembl | |
| rs1272769597 | 801 | S>R | No | gnomAD | |
|
COSM3485689 COSM4897264 rs372626373 |
805 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1570321477 | 807 | E>D | No | Ensembl | |
| rs751800679 | 808 | P>S | No |
ExAC gnomAD |
|
| rs1640445409 | 812 | S>G | No |
TOPMed gnomAD |
|
| rs1640445409 | 812 | S>R | No |
TOPMed gnomAD |
|
| rs1174125425 | 813 | Q>* | No | gnomAD | |
| rs758220211 | 816 | P>R | No |
ExAC gnomAD |
|
| rs766739739 | 816 | P>S | No |
ExAC gnomAD |
|
| rs1640444788 | 817 | N>Y | No | TOPMed | |
| rs750200318 | 818 | S>P | No |
ExAC gnomAD |
|
| rs765157276 | 819 | E>G | No |
ExAC gnomAD |
|
| COSM3864872 | 820 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4897336 COSM3485688 |
822 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1570321358 | 822 | L>V | No | Ensembl | |
| rs761654342 | 823 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs761654342 | 823 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs199665281 | 823 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201264216 | 824 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1487489433 | 825 | P>S | No | gnomAD | |
| rs1283114763 | 826 | P>L | No |
TOPMed gnomAD |
|
| rs760214231 | 827 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs760214231 | 827 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs760214231 | 827 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1640442572 | 828 | T>A | No | gnomAD | |
| rs775080630 | 829 | S>P | No |
ExAC gnomAD |
|
| rs1025786923 | 831 | P>A | No | gnomAD | |
| rs749606321 | 831 | P>L | No |
ExAC gnomAD |
|
| rs749606321 | 831 | P>R | No |
ExAC gnomAD |
|
| rs994330797 | 832 | S>N | No |
TOPMed gnomAD |
|
| rs773451661 | 832 | S>R | No |
ExAC gnomAD |
|
| rs1357103046 | 834 | T>I | No | gnomAD | |
| rs1313447704 | 835 | S>A | No | gnomAD | |
| rs1640441031 | 835 | S>C | No | TOPMed | |
| rs896085148 | 836 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs896085148 | 836 | G>W | No |
TOPMed gnomAD |
|
| rs758996848 | 837 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs755069632 | 839 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs755069632 | 839 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1477075212 | 840 | S>A | No | gnomAD | |
|
COSM4869115 rs1260013457 COSM906123 |
840 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs780367200 | 841 | E>G | No |
ExAC gnomAD |
|
| rs905864851 | 842 | M>R | No |
TOPMed gnomAD |
|
| rs905864851 | 842 | M>T | No |
TOPMed gnomAD |
|
| rs758700381 | 842 | M>V | No |
ExAC gnomAD |
|
|
COSM4029886 COSM4907554 |
843 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs535583916 | 843 | Y>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs535583916 | 843 | Y>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1293663910 | 845 | P>H | No | gnomAD | |
| rs1293663910 | 845 | P>L | No | gnomAD | |
| rs1336756048 | 845 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs753354426 | 846 | V>F | No |
ExAC TOPMed gnomAD |
|
|
COSM4029885 rs753354426 COSM4907285 |
846 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4905841 COSM4403907 |
847 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1407664018 | 847 | R>S | No | gnomAD | |
|
COSM4899239 COSM3485687 |
848 | F>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1176257638 | 850 | S>F | No | gnomAD | |
| rs142945237 | 851 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs142945237 | 851 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs998339956 | 852 | S>N | No |
TOPMed gnomAD |
|
| rs1570319736 | 853 | T>P | No | Ensembl | |
| rs554814285 | 854 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1288158151 | 854 | R>L | No |
TOPMed gnomAD |
|
| rs1173292268 | 855 | S>C | No |
TOPMed gnomAD |
|
| rs1640414932 | 855 | S>P | No | TOPMed | |
| rs777142418 | 856 | Y>C | No |
ExAC gnomAD |
|
| rs200734272 | 857 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs761253953 | 857 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs761253953 | 857 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs761253953 | 857 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs200734272 | 857 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs143495247 | 858 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs745986617 | 858 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs143495247 | 858 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1553171320 | 859 | G>R | No | Ensembl | |
| rs749012817 | 860 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs771194681 | 860 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 860 | A>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771194681 | 860 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs749012817 | 860 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs568988549 | 861 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| rs536081650 | 861 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1360476972 | 862 | S>G | No | gnomAD | |
| rs781229291 | 862 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs781229291 | 862 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1377675705 | 865 | D>G | No | gnomAD | |
| rs1640411755 | 866 | G>D | No | Ensembl | |
| rs1431089680 | 867 | P>L | No | gnomAD | |
| rs1197797419 | 867 | P>S | No | gnomAD | |
| rs765881891 | 868 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs758067842 | 869 | A>P | No |
ExAC gnomAD |
|
| rs1640410698 | 871 | Q>R | No | Ensembl | |
| rs1273738355 | 872 | P>S | No |
TOPMed gnomAD |
|
| rs1347294989 | 874 | P>S | No | gnomAD | |
| rs1442226882 | 875 | R>G | No | TOPMed | |
| rs532640961 | 877 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764534286 | 877 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs764534286 | 877 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs776104795 | 878 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs137927599 | 879 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000885106 rs137927599 |
879 | P>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1280286096 | 879 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1570316929 | 880 | V>A | No | TOPMed | |
| rs1416630959 | 880 | V>F | No |
TOPMed gnomAD |
|
| rs1570316929 | 880 | V>G | No | TOPMed | |
| rs200298634 | 882 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs531234229 | 883 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763061579 | 885 | G>* | No |
ExAC gnomAD |
|
| rs1040517601 | 885 | G>E | No |
TOPMed gnomAD |
|
| rs763061579 | 885 | G>R | No |
ExAC gnomAD |
|
| rs1640363241 | 886 | D>H | No |
TOPMed gnomAD |
|
| rs1640363026 | 888 | S>* | No | TOPMed | |
| rs1640362915 | 890 | T>A | No | gnomAD | |
| rs771244024 | 891 | G>E | No |
TOPMed gnomAD |
|
| rs1218407697 | 892 | S>N | No |
TOPMed gnomAD |
|
| rs1212181115 | 894 | P>L | No | TOPMed | |
| rs773383278 | 894 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs770017518 | 895 | A>E | No |
ExAC gnomAD |
|
|
COSM906122 COSM4864503 |
897 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747871319 | 898 | V>A | No |
ExAC gnomAD |
|
| rs1230408567 | 899 | Q>P | No | gnomAD | |
| rs142687246 | 900 | L>F | No |
ESP ExAC gnomAD |
|
| rs114806866 | 901 | L>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640360268 | 902 | Q>R | No | Ensembl | |
| rs1277307525 | 903 | D>G | No | TOPMed | |
| rs148021104 | 904 | D>W | No |
ESP ExAC TOPMed gnomAD |
No associated diseases with Q8TDY4
7 regional properties for Q8TDY4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Arf GTPase activating protein | 426 - 551 | IPR001164 |
| domain | Pleckstrin homology domain | 302 - 396 | IPR001849 |
| repeat | Ankyrin repeat | 585 - 674 | IPR002110 |
| domain | BAR domain | 49 - 260 | IPR004148 |
| domain | Arf GTPase activating protein 3, BAR domain | 35 - 243 | IPR028775 |
| domain | ASAP, PH domain | 294 - 400 | IPR037844 |
| domain | ASAP3, ArfGAP domain | 424 - 546 | IPR047006 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| metal ion binding | Binding to a metal ion. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5PK26 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| O97902 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| A1Z7A6 | Asap | ArfGAP with SH3 domain, ANK repeat and PH domain-containing protein | Drosophila melanogaster (Fruit fly) | SS |
| Q15027 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q15057 | ACAP2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | PR |
| O43150 | ASAP2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | SS |
| Q9ULH1 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q8K2H4 | Acap1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q6ZQK5 | Acap2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q7SIG6 | Asap2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q9QWY8 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q5U464 | Asap3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q1AAU6 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| Q9C6C3 | AGD2 | ADP-ribosylation factor GTPase-activating protein AGD2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SMX5 | AGD4 | ADP-ribosylation factor GTPase-activating protein AGD4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPEQFSVAEF | LAVTAEDLSS | PAGAAAFAAK | MPRYRGAALA | REEILEGDQA | ILQRIKKAVR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AIHSSGLGHV | ENEEQYREAV | ESLGNSHLSQ | NSHELSTGFL | NLAVFTREVA | ALFKNLIQNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNIVSFPLDS | LMKGQLRDGR | QDSKKQLEKA | WKDYEAKMAK | LEKERDRARV | TGGIPGEVAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DMQRERRIFQ | LHMCEYLLKA | GESQMKQGPD | FLQSLIKFFH | AQHNFFQDGW | KAAQSLFPFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKLAASVHAL | HQAQEDELQK | LTQLRDSLRG | TLQLESREEH | LSRKNSGCGY | SIHQHQGNKQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FGTEKVGFLY | KKSDGIRRVW | QKRKCGVKYG | CLTISHSTIN | RPPVKLTLLT | CQVRPNPEEK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KCFDLVTHNR | TYHFQAEDEH | ECEAWVSVLQ | NSKDEALSSA | FLGEPSAGPG | SWGSAGHDGE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PHDLTKLLIA | EVKSRPGNSQ | CCDCGAADPT | WLSTNLGVLT | CIQCSGVHRE | LGVRFSRMQS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTLDLLGPSE | LLLALNMGNT | SFNEVMEAQL | PSHGGPKPSA | ESDMGTRRDY | IMAKYVEHRF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ARRCTPEPQR | LWTAICNRDL | LSVLEAFANG | QDFGQPLPGP | DAQAPEELVL | HLAVKVANQA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SLPLVDFIIQ | NGGHLDAKAA | DGNTALHYAA | LYNQPDCLKL | LLKGRALVGT | VNEAGETALD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IARKKHHKEC | EELLEQAQAG | TFAFPLHVDY | SWVISTEPGS | DSEEDEEEKR | CLLKLPAQAH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| WASGRLDISN | KTYETVASLG | AATPQGESED | CPPPLPVKNS | SRTLVQGCAR | HASGDRSEVS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SLSSEAPETP | ESLGSPASSS | SLMSPLEPGD | PSQAPPNSEE | GLREPPGTSR | PSLTSGTTPS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EMYLPVRFSS | ESTRSYRRGA | RSPEDGPSAR | QPLPRRNVPV | GITEGDGSRT | GSLPASSVQL |
| LQD |