Q6UXZ4
SS
Gene name |
UNC5D (KIAA1777, UNC5H4, UNQ6012/PRO34692) |
Protein name |
Netrin receptor UNC5D |
Names |
Protein unc-5 homolog 4 , Protein unc-5 homolog D |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:137970 |
EC number |
|
Protein Class |
|
Descriptions
The UNC5 family proteins, initially discovered in C. elegans as an axonal guidance transmembrane receptor. The cytoplasmic domains of UNC5b are responsible for its netrin-mediated signaling events in axonal migrations, blood vessel patterning, and apoptosis. The domain organization pattern of the cytoplasmic portion of UNC5 (i.e., ZU5-UPA-DD) is also found in ankyrins, a large family of scaffold proteins responsible for the assembly of specialized membrane microdomain structures that contain ion channels, cell adhesion molecules, and cytoskeletons in diverse cells. <br>The three domains (ZU5, UPA, and DD) form a structural supramoldule, thereby locking the ZU5-UPA-DD supramodule in a closed conformation and suppressing the biological activity of UNC5b. Release of the closed conformation of the ZU5-UPA-DD supramodule leads to the activation of the receptor in the promotion of apoptosis and blood vessel patterning.
Autoinhibitory domains (AIDs)
Target domain |
540-937 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
540-937 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
540-937 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6UXZ4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6UXZ4-F1 | Predicted | AlphaFoldDB |
994 variants for Q6UXZ4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003303769 rs267601904 |
96 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| rs2128795707 | 2 | G>R | No | Ensembl | |
| rs1033921484 | 4 | A>G | No | TOPMed | |
| rs1033921484 | 4 | A>V | No | TOPMed | |
| rs1218399932 | 8 | A>S | No | TOPMed | |
| rs1585382447 | 11 | G>D | No | Ensembl | |
| rs1039798547 | 11 | G>S | No | TOPMed | |
| rs1156449567 | 12 | G>R | No |
TOPMed gnomAD |
|
| rs899993181 | 13 | G>R | No | Ensembl | |
| rs1802415936 | 14 | A>T | No | Ensembl | |
|
COSM1231807 rs1382879677 |
14 | A>V | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
|
rs1401526412 COSM3785971 |
15 | R>C | pancreas [Cosmic] | No |
cosmic curated TOPMed |
| rs1436950949 | 15 | R>H | No |
TOPMed gnomAD |
|
| rs1436950949 | 15 | R>L | No |
TOPMed gnomAD |
|
| rs1470953624 | 16 | R>C | No |
TOPMed gnomAD |
|
| rs931494398 | 16 | R>L | No |
TOPMed gnomAD |
|
| rs887369538 | 19 | P>L | No |
TOPMed gnomAD |
|
| rs887369538 | 19 | P>Q | No |
TOPMed gnomAD |
|
| rs887369538 | 19 | P>R | No |
TOPMed gnomAD |
|
| rs1048625313 | 19 | P>S | No |
1000Genomes TOPMed |
|
| rs1048625313 | 19 | P>T | No |
1000Genomes TOPMed |
|
| rs1463098119 | 25 | F>L | No |
TOPMed gnomAD |
|
| rs1264281493 | 27 | A>V | No |
TOPMed gnomAD |
|
| rs1585382614 | 29 | G>E | No | Ensembl | |
| rs1337812064 | 31 | A>T | No | TOPMed | |
| rs1035364476 | 32 | A>V | No |
TOPMed gnomAD |
|
| rs1281364924 | 34 | R>G | No |
TOPMed gnomAD |
|
| rs1339950998 | 34 | R>L | No | TOPMed | |
| rs1339950998 | 34 | R>P | No | TOPMed | |
| rs895519885 | 35 | G>R | No | Ensembl | |
| rs1815927100 | 37 | D>N | No | TOPMed | |
| rs868726336 | 37 | D>V | No | Ensembl | |
| rs776553039 | 38 | N>H | No |
ExAC gnomAD |
|
| rs1563524194 | 38 | N>S | No | Ensembl | |
| TCGA novel | 39 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1552333 rs765411265 COSM1552334 |
40 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4151057 rs759343671 |
44 | E>K | ovary [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1356646475 | 45 | S>F | No | TOPMed | |
| rs971491918 | 46 | I>V | No |
TOPMed gnomAD |
|
| rs1405274544 | 47 | P>L | No | TOPMed | |
| rs1815930783 | 50 | P>L | No | TOPMed | |
| rs1815930783 | 50 | P>R | No | TOPMed | |
| rs752668167 | 50 | P>S | No |
ExAC gnomAD |
|
| rs1815931248 | 51 | G>R | No | Ensembl | |
| rs1196246337 | 54 | P>L | No | gnomAD | |
|
COSM3899803 COSM3899802 |
54 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372861265 | 55 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753317133 | 57 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs778440826 | 57 | I>M | No |
ExAC gnomAD |
|
| rs756719258 | 57 | I>T | No | ExAC | |
| rs753317133 | 57 | I>V | No |
ExAC TOPMed gnomAD |
|
| COSM273699 | 58 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1469072601 | 58 | E>K | No | gnomAD | |
| rs373284235 | 59 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM750577 COSM1648084 |
60 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1234384162 | 61 | D>H | No |
TOPMed gnomAD |
|
|
COSM3925226 COSM3925227 rs780536477 |
62 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1421429705 | 64 | Y>F | No | gnomAD | |
| rs1183101218 | 65 | I>S | No | gnomAD | |
| rs2130686421 | 65 | I>V | No | Ensembl | |
| TCGA novel | 66 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747568492 | 67 | K>R | No |
ExAC gnomAD |
|
|
COSM6112955 COSM6112956 |
68 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1473901034 | 68 | S>N | No | gnomAD | |
| rs1815935609 | 69 | N>D | No | TOPMed | |
| rs1418190301 | 69 | N>K | No |
TOPMed gnomAD |
|
| rs781696554 | 70 | P>S | No |
ExAC gnomAD |
|
| rs781696554 | 70 | P>T | No |
ExAC gnomAD |
|
| rs145677650 | 71 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs139425313 | 71 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1284784761 | 72 | A>T | No | Ensembl | |
| rs1354912129 | 72 | A>V | No | gnomAD | |
| rs201950756 | 73 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201950756 | 73 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1273419742 | 77 | A>S | No |
TOPMed gnomAD |
|
| rs1273419742 | 77 | A>T | No |
TOPMed gnomAD |
|
| rs1815938476 | 77 | A>V | No | gnomAD | |
| rs771898931 | 78 | R>S | No |
ExAC gnomAD |
|
| TCGA novel | 80 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775283676 | 80 | A>S | No |
ExAC gnomAD |
|
|
COSM6180542 COSM6180541 |
82 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1815939385 | 83 | I>L | No |
TOPMed gnomAD |
|
| rs1815939385 | 83 | I>V | No |
TOPMed gnomAD |
|
| rs2130686945 | 84 | F>L | No | Ensembl | |
| rs1815939870 | 87 | C>Y | No | TOPMed | |
| rs760418816 | 88 | N>I | No |
ExAC gnomAD |
|
| rs374013131 | 89 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4539462 COSM4539461 rs1189500802 |
90 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1815941812 | 95 | N>D | No | TOPMed | |
| rs977095011 | 95 | N>I | No | Ensembl | |
| rs758101726 | 97 | H>Y | No |
ExAC gnomAD |
|
|
rs572476421 COSM1099372 |
98 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1373622661 | 99 | S>F | No | gnomAD | |
| rs781566247 | 100 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs781566247 | 100 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs755306874 | 100 | E>K | No |
ExAC gnomAD |
|
| rs1229303818 | 102 | T>A | No |
TOPMed gnomAD |
|
| rs769835743 | 102 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs769835743 | 102 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs769835743 | 102 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2130687495 | 104 | D>G | No | 1000Genomes | |
|
COSM3412986 COSM3412985 |
104 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777805217 | 105 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1269440459 | 106 | S>N | No |
TOPMed gnomAD |
|
| TCGA novel | 106 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 108 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 108 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756664091 | 109 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1194024876 | 110 | K>M | No | gnomAD | |
| rs1300883150 | 111 | V>G | No | TOPMed | |
| rs778210897 | 112 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs778210897 COSM3715917 |
112 | R>G | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs149211805 | 112 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs778210897 | 112 | R>S | No |
ExAC TOPMed gnomAD |
|
|
COSM1099373 rs151297319 COSM1597669 |
113 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs151297319 | 113 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1157939320 | 116 | I>V | No |
TOPMed gnomAD |
|
|
COSM1597668 COSM1099374 |
121 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1817478313 | 123 | V>L | No | TOPMed | |
| rs769885844 | 125 | D>E | No |
ExAC gnomAD |
|
|
COSM3648617 COSM3648616 |
125 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747849416 | 125 | D>V | No |
ExAC gnomAD |
|
| rs773217806 | 126 | F>L | No |
ExAC TOPMed gnomAD |
|
|
COSM1648081 rs1024184643 COSM750574 |
127 | H>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs762568578 | 127 | H>Y | No |
ExAC gnomAD |
|
| rs1817481338 | 129 | P>T | No | TOPMed | |
| rs1212684723 | 130 | E>G | No |
TOPMed gnomAD |
|
| rs758449590 | 130 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2130784989 | 131 | D>Y | No | Ensembl | |
| rs1817482511 | 132 | Y>H | No | Ensembl | |
| rs1817483289 | 133 | W>R | No | Ensembl | |
| TCGA novel | 134 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1214148843 | 134 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1267601411 | 135 | Q>L | No |
TOPMed gnomAD |
|
|
rs753133707 COSM1288829 COSM1288830 |
137 | V>A | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 138 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1817484639 | 138 | A>V | No | Ensembl | |
| rs1331531438 | 141 | H>Y | No | TOPMed | |
| rs1817486042 | 145 | S>P | No | TOPMed | |
| rs186119645 | 148 | R>G | No |
1000Genomes ExAC gnomAD |
|
|
COSM3648619 COSM3648618 |
148 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM286324 | 148 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1384092116 | 149 | K>R | No | gnomAD | |
| rs746125404 | 150 | A>D | No |
ExAC gnomAD |
|
| rs758669844 | 153 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs777831269 | 154 | I>V | No | Ensembl | |
| rs1324666336 | 155 | A>V | No | gnomAD | |
|
COSM3899810 COSM3899811 |
156 | Y>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs780339316 COSM1231810 |
157 | L>V | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs751720393 | 158 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs751720393 | 158 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs751720393 | 158 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1819438341 | 158 | R>W | No |
TOPMed gnomAD |
|
| rs1819438784 | 160 | N>I | No |
TOPMed gnomAD |
|
| rs1819438784 | 160 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 160 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756043065 | 162 | E>* | No |
ExAC gnomAD |
|
| rs756043065 | 162 | E>Q | No |
ExAC gnomAD |
|
| rs1216173082 | 163 | Q>E | No |
TOPMed gnomAD |
|
| rs749292017 | 163 | Q>H | No |
ExAC gnomAD |
|
|
TCGA novel rs1216173082 |
163 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs569977323 | 163 | Q>R | No | Ensembl | |
| rs61563786 | 164 | D>H | No | Ensembl | |
|
COSM6180539 COSM6180540 |
165 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771019432 | 167 | G>R | No |
ExAC gnomAD |
|
|
rs1819440650 COSM3648620 COSM3648621 |
168 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1819440828 | 169 | E>G | No | Ensembl | |
|
COSM3648623 COSM3648622 rs1819441181 |
171 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| TCGA novel | 172 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1172441216 | 172 | I>T | No |
TOPMed gnomAD |
|
| rs1486661910 | 172 | I>V | No | gnomAD | |
| TCGA novel | 173 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1188515617 | 174 | G>A | No | gnomAD | |
| rs1819441881 | 174 | G>S | No | TOPMed | |
| rs745394562 | 176 | I>L | No |
ExAC gnomAD |
|
| rs1254840521 | 176 | I>T | No | TOPMed | |
| rs745394562 | 176 | I>V | No |
ExAC gnomAD |
|
| rs771466200 | 177 | V>A | No |
ExAC gnomAD |
|
| rs771466200 | 177 | V>E | No |
ExAC gnomAD |
|
| rs1819442731 | 178 | L>M | No | gnomAD | |
| rs775277908 | 181 | R>C | No |
ExAC gnomAD |
|
| rs760287883 | 181 | R>H | No |
ExAC gnomAD |
|
| rs777002483 | 184 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1317007439 | 186 | V>I | No | gnomAD | |
| rs1317007439 | 186 | V>L | No | gnomAD | |
| rs868435637 | 187 | P>S | No | Ensembl | |
| rs1563571380 | 188 | A>P | No | Ensembl | |
| rs1432425793 | 190 | E>K | No |
TOPMed gnomAD |
|
|
COSM3648625 COSM3648624 |
191 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2131339051 | 191 | V>A | No | 1000Genomes | |
| rs1825811162 | 191 | V>M | No | gnomAD | |
| rs768328891 | 192 | E>D | No |
ExAC gnomAD |
|
| rs1460272836 | 194 | L>R | No | TOPMed | |
| rs938995365 | 197 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1225686890 | 199 | P>H | No | gnomAD | |
| rs1159363651 | 199 | P>T | No | gnomAD | |
| rs776200350 | 200 | I>V | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs1825813095 |
201 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA |
| rs1586425164 | 201 | D>G | No | TOPMed | |
| rs762180898 | 201 | D>N | No |
ExAC gnomAD |
|
| rs2131339194 | 202 | S>P | No | Ensembl | |
| rs770043059 | 203 | E>Q | No |
ExAC gnomAD |
|
| rs1452726121 | 204 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1452726121 | 204 | Q>K | No |
TOPMed gnomAD |
|
| rs1181664599 | 205 | D>G | No | gnomAD | |
| rs1470843554 | 206 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1825814374 | 208 | I>F | No | TOPMed | |
| rs1825814374 | 208 | I>V | No | TOPMed | |
| rs1159256159 | 210 | T>A | No | gnomAD | |
| rs138754011 | 211 | R>M | No |
1000Genomes gnomAD |
|
| rs1327701395 | 212 | A>P | No |
1000Genomes gnomAD |
|
|
COSM3648627 COSM3648626 |
212 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs895039197 | 213 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
TCGA novel rs766532836 |
215 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs1825816338 | 217 | I>M | No | TOPMed | |
| rs1226831645 | 219 | R>G | No |
TOPMed gnomAD |
|
| rs1370014 | 219 | R>K | No | Ensembl | |
| rs2131339426 | 219 | R>S | No | Ensembl | |
| rs1390761572 | 220 | Q>K | No | gnomAD | |
| rs2131339459 | 220 | Q>L | No | 1000Genomes | |
| TCGA novel | 222 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751714986 | 222 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1326693959 | 222 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs759618055 | 224 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 225 | D>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1231644296 | 226 | S>A | No |
TOPMed gnomAD |
|
| rs1231644296 | 226 | S>P | No |
TOPMed gnomAD |
|
|
COSM3899813 COSM3899812 rs2131339583 |
230 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1586425452 | 230 | T>P | No | Ensembl | |
| rs999771747 | 231 | C>R | No | gnomAD | |
| rs1586425471 | 232 | M>R | No | Ensembl | |
| rs1825818990 | 232 | M>V | No | Ensembl | |
| rs1298267760 | 233 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM1597666 COSM1099377 |
233 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM98300 | 234 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1249122575 | 234 | A>T | No | gnomAD | |
| rs1440048506 | 235 | N>K | No | gnomAD | |
| rs757139684 | 236 | I>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757139684 | 236 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1474032015 | 237 | V>M | No |
TOPMed gnomAD |
|
| rs1825820396 | 238 | A>T | No | TOPMed | |
| rs750422505 | 239 | K>R | No |
ExAC gnomAD |
|
| rs758290242 | 240 | R>S | No |
ExAC gnomAD |
|
| rs780001315 | 241 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs754427390 | 243 | L>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1231805 rs1396237365 |
244 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
|
COSM5195154 COSM454490 |
244 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1396237365 | 244 | S>W | No | TOPMed | |
| rs542836814 | 245 | A>S | No |
1000Genomes ExAC gnomAD |
|
| rs956334722 | 246 | T>I | No | Ensembl | |
|
COSM6112951 COSM6112952 |
247 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1825822282 | 248 | V>L | No | gnomAD | |
|
COSM3899814 COSM3899815 rs770237823 |
249 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM5230344 rs141886860 COSM5230343 |
250 | Y>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs2131343965 | 251 | V>A | No | 1000Genomes | |
| rs1825822877 | 251 | V>M | No | TOPMed | |
| rs1825886978 | 252 | N>K | No | Ensembl | |
| rs2131343997 | 254 | G>C | No | Ensembl | |
| rs1303400784 | 256 | S>A | No | gnomAD | |
|
COSM3899816 COSM3899817 |
259 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1211677509 | 260 | E>A | No | gnomAD | |
| rs1586428324 | 260 | E>D | No | Ensembl | |
| rs1211677509 | 260 | E>V | No | gnomAD | |
| rs1256044690 | 261 | W>* | No |
TOPMed gnomAD |
|
| TCGA novel | 261 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1586428333 | 261 | W>G | No | Ensembl | |
| rs1485358933 | 262 | S>L | No | gnomAD | |
|
COSM1569071 COSM1569070 |
263 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777446562 | 263 | A>V | No |
ExAC gnomAD |
|
| rs1249676993 | 265 | N>S | No | gnomAD | |
| rs749642014 | 267 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1192773107 | 267 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs749642014 | 267 | R>S | No |
ExAC TOPMed gnomAD |
|
|
COSM750572 COSM1648079 |
268 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775041453 | 269 | G>D | No |
ExAC gnomAD |
|
| TCGA novel | 270 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178358757 COSM1582763 |
271 | G>R | stomach [Cosmic] | No |
cosmic curated gnomAD |
| rs772337809 | 272 | W>* | No |
ExAC gnomAD |
|
| rs1008365068 | 272 | W>R | No |
TOPMed gnomAD |
|
| rs1825890183 | 273 | Q>H | No | TOPMed | |
| rs1825890472 | 274 | K>I | No | Ensembl | |
| rs775726745 | 275 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs868517660 | 275 | R>H | No |
TOPMed gnomAD |
|
| rs760742908 | 276 | S>C | No |
ExAC gnomAD |
|
|
COSM3899818 rs1825891618 COSM3899819 |
277 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1325623230 | 280 | T>S | No |
TOPMed gnomAD |
|
| TCGA novel | 281 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1825892170 | 282 | P>S | No | Ensembl | |
| rs1019452455 | 283 | A>T | No |
TOPMed gnomAD |
|
| rs768792332 | 285 | L>V | No |
ExAC gnomAD |
|
| rs1234091050 | 286 | N>I | No | TOPMed | |
| rs1221399494 | 287 | G>S | No | gnomAD | |
| rs1301389581 | 289 | A>D | No |
TOPMed gnomAD |
|
| rs1301389581 | 289 | A>V | No |
TOPMed gnomAD |
|
|
COSM4825095 COSM4825096 rs1825893422 |
292 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
|
COSM3648635 COSM3648634 |
293 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2131344458 | 293 | G>V | No | Ensembl | |
|
COSM750571 rs1236436773 COSM1648078 |
294 | M>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1563666783 | 294 | M>T | No | Ensembl | |
| rs1782188950 | 294 | M>V | No | gnomAD | |
| rs1212893091 | 302 | T>A | No |
TOPMed gnomAD |
|
| rs2131344575 | 302 | T>N | No | Ensembl | |
| rs1212893091 | 302 | T>P | No |
TOPMed gnomAD |
|
|
COSM4512814 COSM4512813 |
306 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1699965 COSM1699966 |
306 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6180537 COSM6180538 |
307 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1412081891 | 308 | D>G | No |
TOPMed gnomAD |
|
|
COSM3648637 COSM3648636 |
308 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2131352248 | 308 | D>Y | No | Ensembl | |
| rs1826019810 | 309 | G>W | No | TOPMed | |
| rs1826020147 | 310 | S>N | No | Ensembl | |
|
COSM4399254 COSM4399253 |
311 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1165916595 | 311 | W>L | No | gnomAD | |
| rs1354523911 | 312 | E>K | No | gnomAD | |
| rs372276235 | 313 | V>A | No |
ESP TOPMed gnomAD |
|
| rs372276235 | 313 | V>E | No |
ESP TOPMed gnomAD |
|
| rs372276235 | 313 | V>G | No |
ESP TOPMed gnomAD |
|
| rs1826020792 | 313 | V>M | No |
TOPMed gnomAD |
|
| rs1563668643 | 314 | W>C | No | Ensembl | |
| rs759257481 | 315 | S>G | No |
ExAC gnomAD |
|
| rs145667746 | 315 | S>I | No |
ESP ExAC gnomAD |
|
| rs200975218 | 316 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200975218 | 316 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1826022687 | 317 | W>C | No | Ensembl | |
| rs1563668715 | 317 | W>L | No | Ensembl | |
|
COSM6180536 COSM6180535 |
318 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753495017 | 318 | S>Y | No |
ExAC gnomAD |
|
|
rs545883862 COSM1317222 COSM146078 |
319 | V>I | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1379883325 | 320 | C>* | No |
TOPMed gnomAD |
|
| rs1271985685 | 320 | C>Y | No | gnomAD | |
| rs1305726521 | 321 | S>I | No | gnomAD | |
| rs1826024068 | 322 | P>A | No | TOPMed | |
| rs2131352648 | 322 | P>Q | No | Ensembl | |
| rs1563668805 | 323 | E>V | No | Ensembl | |
| rs1354665266 | 324 | C>Y | No | TOPMed | |
| rs868567000 | 325 | E>K | No | Ensembl | |
|
COSM3648638 COSM3648639 |
327 | L>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1099380 COSM1489250 |
328 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5358886 COSM5358887 rs768683952 |
328 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs781316198 | 329 | I>F | No |
ExAC gnomAD |
|
| rs1182849801 | 330 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs748166151 | 330 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1826026424 | 331 | E>D | No | Ensembl | |
| rs1419206963 | 331 | E>K | No | gnomAD | |
| rs770005378 | 333 | T>R | No |
ExAC gnomAD |
|
| TCGA novel | 333 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131352866 | 334 | A>T | No | 1000Genomes | |
| rs1826027009 | 334 | A>V | No | TOPMed | |
| rs549027477 | 336 | P>A | No |
TOPMed gnomAD |
|
| rs773379186 | 336 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs773379186 | 336 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs549027477 | 336 | P>T | No |
TOPMed gnomAD |
|
|
COSM1456769 COSM1456768 rs1448247097 |
337 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1448247097 | 337 | P>R | No |
TOPMed gnomAD |
|
| rs760650351 | 342 | K>R | No |
ExAC gnomAD |
|
|
rs1347043026 COSM1099381 COSM1597665 |
343 | F>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs763882728 | 345 | E>Q | No |
ExAC gnomAD |
|
| rs1586433730 | 346 | G>D | No | TOPMed | |
| rs1826030064 | 346 | G>S | No | Ensembl | |
|
COSM1456771 COSM1456770 |
349 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 349 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs528277879 | 350 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs540099787 | 351 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs540099787 | 351 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1162107066 | 352 | E>K | No |
TOPMed gnomAD |
|
| rs1474599578 | 353 | N>S | No |
TOPMed gnomAD |
|
| rs1190889207 | 357 | G>S | No | gnomAD | |
| rs750078389 | 357 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1426598006 | 361 | L>P | No | gnomAD | |
| rs1827549864 | 363 | K>E | No | TOPMed | |
|
COSM3699061 COSM3699060 |
363 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1481682003 | 365 | P>L | No |
TOPMed gnomAD |
|
| rs1481682003 | 365 | P>R | No |
TOPMed gnomAD |
|
| TCGA novel | 365 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM286325 | 366 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1827550687 | 367 | H>N | No | TOPMed | |
| rs1230409508 | 368 | E>K | No | gnomAD | |
| rs199507327 | 369 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs762680268 | 369 | I>T | No |
ExAC gnomAD |
|
| rs1827551664 | 371 | P>A | No | gnomAD | |
| rs1827551664 | 371 | P>S | No | gnomAD | |
| rs1292717815 | 372 | Q>P | No | gnomAD | |
| rs369902518 | 373 | S>N | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 374 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326156918 | 375 | E>A | No | gnomAD | |
| rs770644786 | 379 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs554964130 | 380 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs754484686 | 381 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs1828618869 | 382 | L>W | No | TOPMed | |
| rs1368009647 | 384 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM750568 COSM1648076 |
385 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1828619557 | 385 | G>D | No | gnomAD | |
|
COSM6180531 COSM6180532 |
385 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs543896502 | 386 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs761187033 | 387 | G>C | No |
ExAC gnomAD |
|
| rs989838018 | 390 | V>A | No |
TOPMed gnomAD |
|
| rs144971419 | 390 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs144971419 | 390 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs757237977 | 391 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs757237977 | 391 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM6180530 COSM6180529 |
392 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750581631 | 392 | A>V | No |
ExAC gnomAD |
|
| rs78424991 | 393 | V>G | No | Ensembl | |
| rs200480436 | 393 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs200480436 | 393 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1828621721 | 394 | A>T | No | TOPMed | |
| rs764233774 | 394 | A>V | No | Ensembl | |
| rs1828622023 | 395 | V>L | No | TOPMed | |
| rs1586529152 | 397 | V>G | No | Ensembl | |
| rs138102931 | 398 | I>V | No |
ESP gnomAD |
|
|
COSM1099385 COSM1597662 |
399 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs890760713 | 400 | V>F | No | Ensembl | |
| rs890760713 | 400 | V>I | No | Ensembl | |
| rs1828623154 | 401 | T>I | No | Ensembl | |
| rs769857365 | 403 | Y>H | No |
ExAC gnomAD |
|
| rs865869177 | 404 | R>* | No | Ensembl | |
|
COSM5437012 rs753961251 COSM5437011 |
405 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs777810810 | 405 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs747774996 | 406 | S>R | No | Ensembl | |
| rs770321226 | 407 | Q>* | No |
ExAC gnomAD |
|
| rs1436469502 | 407 | Q>H | No | gnomAD | |
| rs1293526848 | 408 | S>I | No |
TOPMed gnomAD |
|
| rs1293526848 | 408 | S>N | No |
TOPMed gnomAD |
|
| rs1586529306 | 408 | S>R | No | Ensembl | |
|
COSM3899825 COSM3899824 |
409 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1366094687 | 410 | Y>C | No |
TOPMed gnomAD |
|
| rs147064561 | 412 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs759101180 | 412 | V>L | No |
ExAC TOPMed gnomAD |
|
|
COSM4739370 COSM4739371 rs759101180 |
412 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1329523017 | 413 | D>V | No |
TOPMed gnomAD |
|
|
COSM750567 COSM1648075 |
414 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149536132 | 414 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1563705132 | 415 | I>V | No | Ensembl | |
| rs1828626731 | 416 | D>A | No | TOPMed | |
| rs560063911 | 416 | D>Y | No | 1000Genomes | |
| rs1563705155 | 417 | S>P | No | Ensembl | |
| rs1489402879 | 418 | S>P | No | gnomAD | |
| rs1352772436 | 420 | L>F | No | TOPMed | |
| rs1472393198 | 422 | G>D | No |
TOPMed gnomAD |
|
| rs761993145 | 422 | G>R | No |
ExAC gnomAD |
|
| rs761993145 | 422 | G>S | No |
ExAC gnomAD |
|
| rs377179003 | 423 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1456773 COSM1456772 |
423 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1164490456 | 426 | T>I | No |
TOPMed gnomAD |
|
| rs1164490456 | 426 | T>N | No |
TOPMed gnomAD |
|
| rs1164490456 | 426 | T>S | No |
TOPMed gnomAD |
|
| rs780355003 | 428 | N>H | No |
ExAC gnomAD |
|
| rs1563705291 | 428 | N>T | No | Ensembl | |
| rs370081482 | 429 | F>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1828629498 | 431 | T>I | No | TOPMed | |
| rs1828629665 | 432 | V>D | No |
TOPMed gnomAD |
|
|
COSM3648646 rs199800648 COSM3648647 |
433 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs144081400 | 433 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs144081400 | 433 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs199800648 | 433 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1828630551 | 434 | Q>K | No | Ensembl | |
| rs1340079591 | 435 | G>D | No | gnomAD | |
| rs1218717905 | 437 | S>C | No |
TOPMed gnomAD |
|
| rs1218717905 | 437 | S>F | No |
TOPMed gnomAD |
|
| rs1314146218 | 439 | L>F | No | gnomAD | |
| rs1247739473 | 441 | N>T | No | gnomAD | |
| rs1828852882 | 443 | A>D | No | TOPMed | |
| rs141215120 | 443 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1828853009 | 446 | P>S | No |
TOPMed gnomAD |
|
| rs748476542 | 447 | D>E | No |
ExAC gnomAD |
|
| rs868440564 | 447 | D>N | No | Ensembl | |
| rs1430878318 | 449 | T>R | No | TOPMed | |
| rs999063693 | 450 | V>A | No | Ensembl | |
|
rs190579280 COSM1597661 COSM1099386 |
452 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs868178712 | 452 | R>W | No | TOPMed | |
| rs1469960415 | 453 | T>K | No | gnomAD | |
| rs773716121 | 453 | T>S | No |
ExAC gnomAD |
|
| rs1175928301 | 454 | Y>H | No |
TOPMed gnomAD |
|
| rs948785076 | 455 | S>C | No |
TOPMed gnomAD |
|
| rs948785076 | 455 | S>G | No |
TOPMed gnomAD |
|
|
COSM3899826 COSM3899827 |
455 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766531280 | 455 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs774777660 | 456 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1260896705 | 458 | I>T | No |
TOPMed gnomAD |
|
| TCGA novel | 459 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767447441 | 459 | C>Y | No |
TOPMed gnomAD |
|
| rs759855388 | 460 | L>Q | No |
ExAC gnomAD |
|
| rs1347640670 | 462 | D>E | No | gnomAD | |
|
COSM1581904 COSM1581903 |
462 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767716286 | 463 | P>L | No |
ExAC gnomAD |
|
| rs1267895186 | 464 | L>V | No | gnomAD | |
| rs1017240771 | 465 | D>N | No | gnomAD | |
| rs753608276 | 466 | K>E | No |
ExAC gnomAD |
|
| rs1366819909 | 466 | K>R | No | TOPMed | |
|
COSM2959416 COSM2959417 |
467 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750331573 | 469 | M>I | No |
ExAC gnomAD |
|
| rs978805931 | 469 | M>R | No |
TOPMed gnomAD |
|
| rs1828860633 | 471 | E>G | No | TOPMed | |
| rs1257951217 | 471 | E>K | No |
TOPMed gnomAD |
|
| rs1828860882 | 472 | S>A | No | gnomAD | |
| rs2131552961 | 472 | S>Y | No | Ensembl | |
| TCGA novel | 473 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1828861377 | 474 | L>F | No |
TOPMed gnomAD |
|
| rs2087117140 | 475 | F>C | No | Ensembl | |
| rs1480567777 | 475 | F>L | No | gnomAD | |
| rs779527364 | 477 | P>A | No |
ExAC gnomAD |
|
| rs751012494 | 477 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs779527364 | 477 | P>S | No |
ExAC gnomAD |
|
|
COSM6180528 COSM6180527 |
477 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1563709711 | 478 | L>W | No | Ensembl | |
| rs147369516 | 479 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1273535856 | 480 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| TCGA novel | 481 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752149524 | 481 | I>T | No |
ExAC TOPMed gnomAD |
|
|
COSM6180525 COSM6180526 |
482 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770170447 | 482 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs778181034 | 483 | V>G | No |
ExAC gnomAD |
|
| rs200720266 | 483 | V>L | No | TOPMed | |
| rs200720266 | 483 | V>M | No | TOPMed | |
| rs1586538713 | 484 | K>E | No | Ensembl | |
| rs771189162 | 484 | K>N | No |
ExAC gnomAD |
|
| rs1348826719 | 484 | K>R | No | gnomAD | |
| rs1280455365 | 485 | V>L | No |
TOPMed gnomAD |
|
|
COSM750565 COSM1648073 |
486 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1356297974 | 488 | S>L | No | gnomAD | |
| rs781352807 | 490 | M>I | No | Ensembl | |
| rs759652756 | 490 | M>T | No |
ExAC gnomAD |
|
| rs772208121 | 492 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1490386772 | 492 | S>P | No | gnomAD | |
| rs1370160725 | 495 | V>A | No | TOPMed | |
| rs761554263 | 496 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1411633498 | 497 | E>K | No |
TOPMed gnomAD |
|
| rs765079290 | 498 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs750419325 | 499 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs762892028 | 499 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1164995742 | 500 | E>A | No | gnomAD | |
| rs1828869249 | 500 | E>K | No | Ensembl | |
| rs1425428017 | 501 | Y>H | No | gnomAD | |
| rs147138619 | 502 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs751101374 | 502 | H>R | No |
ExAC gnomAD |
|
| rs934233416 | 503 | G>S | No |
TOPMed gnomAD |
|
| rs1051399058 | 507 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| TCGA novel | 507 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746018559 | 508 | R>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 508 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756500636 | 508 | R>T | No |
ExAC gnomAD |
|
| rs746018559 | 508 | R>W | No |
ExAC TOPMed gnomAD |
|
|
COSM1331008 COSM1331009 |
509 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749601240 | 510 | F>L | No |
ExAC gnomAD |
|
| rs1317860731 | 510 | F>L | No | gnomAD | |
| rs1828873031 | 510 | F>S | No | TOPMed | |
| rs267601906 | 511 | P>L | No | Ensembl | |
|
COSM3648651 COSM3648650 |
511 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6112948 COSM6112947 |
512 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 512 | H>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271793793 | 512 | H>R | No | gnomAD | |
| rs547473775 | 513 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs1828874141 | 514 | N>S | No | Ensembl | |
| rs745997721 | 515 | N>D | No |
ExAC gnomAD |
|
| TCGA novel | 516 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1243728837 | 520 | T>A | No | gnomAD | |
| rs1007273685 | 520 | T>I | No |
TOPMed gnomAD |
|
| rs1295703662 | 521 | M>T | No | TOPMed | |
| rs1336066277 | 521 | M>V | No | TOPMed | |
| rs532018529 | 522 | H>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs532018529 | 522 | H>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1359205906 | 522 | H>Y | No |
TOPMed gnomAD |
|
| rs898917918 | 523 | P>H | No |
TOPMed gnomAD |
|
|
COSM3648653 COSM3648652 |
523 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368265471 | 523 | P>S | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 524 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768704490 | 525 | N>S | No |
ExAC gnomAD |
|
| rs762695015 | 526 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs550138831 | 526 | K>R | No | Ensembl | |
| TCGA novel | 527 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200108359 | 528 | P>A | No |
1000Genomes ExAC gnomAD |
|
| rs200108359 | 528 | P>T | No |
1000Genomes ExAC gnomAD |
|
| rs867715608 | 529 | Y>C | No | Ensembl | |
| rs1384208310 | 529 | Y>D | No | gnomAD | |
| rs1226879822 | 530 | I>T | No | gnomAD | |
| rs1434955600 | 531 | Q>* | No | gnomAD | |
|
COSM3382227 COSM3382228 |
531 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 534 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131554028 | 534 | S>P | No | Ensembl | |
| rs1294790827 | 536 | L>F | No | gnomAD | |
| rs1828879445 | 537 | P>L | No | Ensembl | |
| rs1828879598 | 538 | T>R | No | Ensembl | |
|
rs780208018 TCGA novel |
539 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs767045698 | 539 | R>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 539 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752348241 | 539 | R>S | No |
ExAC gnomAD |
|
| rs999011315 | 540 | T>A | No | Ensembl | |
| rs1828880569 | 540 | T>I | No | gnomAD | |
| rs1205357688 | 542 | L>P | No | gnomAD | |
| rs1051957587 | 542 | L>V | No |
TOPMed gnomAD |
|
| rs1586539455 | 543 | R>G | No | Ensembl | |
| rs1263485148 | 546 | G>C | No | gnomAD | |
|
COSM1489254 COSM454495 |
547 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs77054671 | 547 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1249800726 | 548 | F>C | No | gnomAD | |
| TCGA novel | 548 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1430444361 | 549 | G>R | No | gnomAD | |
| rs1828882361 | 552 | G>V | No |
TOPMed gnomAD |
|
|
COSM1314007 COSM1314008 |
553 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1377330756 COSM316372 COSM5745002 |
554 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1464686786 | 554 | R>H | No |
TOPMed gnomAD |
|
| rs1026134526 | 556 | V>G | No | TOPMed | |
| rs373853246 | 556 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3834619 COSM3834620 |
558 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 559 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM605225 COSM1650784 |
561 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1226397709 | 562 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1349459861 | 562 | V>L | No | gnomAD | |
| rs533784093 | 563 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs533784093 | 563 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 564 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 564 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1829161604 | 564 | L>V | No | Ensembl | |
| TCGA novel | 566 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1317476929 | 567 | P>A | No | gnomAD | |
| rs1438637019 | 569 | G>D | No |
TOPMed gnomAD |
|
|
rs765684409 COSM3899828 COSM130081 |
569 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs758949718 | 570 | A>D | No |
ExAC gnomAD |
|
| TCGA novel | 570 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373661783 | 570 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs758949718 | 570 | A>V | No |
ExAC gnomAD |
|
|
COSM3899829 COSM3899830 |
571 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1829162953 | 573 | E>K | No | Ensembl | |
|
COSM1099389 COSM1597659 |
574 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1099390 COSM1597658 |
576 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1164767676 | 579 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1383920021 | 580 | Y>C | No | gnomAD | |
| rs1383920021 | 580 | Y>F | No | gnomAD | |
|
COSM1456777 COSM1456776 |
582 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1263030088 | 584 | N>K | No | TOPMed | |
| rs1426050969 | 584 | N>S | No | gnomAD | |
| rs1303203609 | 585 | Q>K | No | gnomAD | |
|
rs752713288 COSM1597657 COSM1099391 |
589 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1829164759 | 589 | S>N | No | TOPMed | |
| rs752713288 | 589 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1830112211 | 590 | L>F | No | Ensembl | |
| TCGA novel | 590 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1463050708 | 591 | Q>R | No | gnomAD | |
| rs900263808 | 593 | D>G | No | gnomAD | |
| rs900263808 | 593 | D>V | No | gnomAD | |
| rs777812144 | 596 | E>D | No |
ExAC gnomAD |
|
| rs1830113308 | 601 | P>T | No | gnomAD | |
| rs1468083745 | 602 | E>D | No |
TOPMed gnomAD |
|
|
COSM1489256 COSM1489255 |
602 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1353246777 | 603 | V>I | No |
TOPMed gnomAD |
|
| rs1830113718 | 604 | T>I | No | Ensembl | |
| rs1830113979 | 605 | C>Y | No | Ensembl | |
| rs1830114244 | 606 | G>A | No | TOPMed | |
| rs769719655 | 606 | G>S | No | TOPMed | |
| rs1419822046 | 607 | P>R | No | gnomAD | |
| rs1830114512 | 610 | M>V | No |
TOPMed gnomAD |
|
|
COSM6180524 COSM6180523 |
611 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1830114811 COSM3899834 COSM3899833 |
612 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1173999827 | 614 | T>I | No | gnomAD | |
|
COSM5726358 COSM5726359 |
615 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1830115630 | 616 | F>L | No | TOPMed | |
| rs746930749 | 616 | F>L | No |
ExAC gnomAD |
|
| TCGA novel | 617 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM750563 COSM1648071 |
618 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs776287291 COSM3648659 COSM3648658 |
619 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs776287291 | 619 | T>S | No |
ExAC TOPMed gnomAD |
|
|
COSM6112945 COSM6112946 |
620 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761368595 | 621 | P>L | No |
ExAC gnomAD |
|
| rs1362954698 | 622 | H>Y | No | gnomAD | |
| rs772715803 | 623 | C>F | No |
ExAC gnomAD |
|
| rs766648515 | 624 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs763414744 | 624 | A>S | No |
ExAC gnomAD |
|
| rs766648515 | 624 | A>V | No |
ExAC gnomAD |
|
| rs1249509817 | 625 | D>E | No | Ensembl | |
| rs752162877 | 625 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1204210751 | 626 | V>I | No | Ensembl | |
| rs1014758214 | 627 | S>C | No |
TOPMed gnomAD |
|
| TCGA novel | 627 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767942725 | 628 | S>C | No |
ExAC TOPMed gnomAD |
|
|
COSM3834621 COSM3834622 |
628 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1167161146 | 629 | E>G | No | Ensembl | |
| rs1830117968 | 630 | H>R | No |
TOPMed gnomAD |
|
|
COSM1456782 COSM1456783 |
631 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs189483993 | 633 | I>S | No |
1000Genomes ExAC gnomAD |
|
|
COSM1648070 COSM750562 |
634 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1648069 COSM750561 |
634 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1430969466 | 634 | H>Y | No | gnomAD | |
| rs1830118673 | 636 | K>N | No |
TOPMed gnomAD |
|
| rs779727791 | 637 | K>R | No |
ExAC gnomAD |
|
| rs779727791 | 637 | K>T | No |
ExAC gnomAD |
|
| rs372948095 | 638 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1312871507 | 639 | T>A | No |
TOPMed gnomAD |
|
| rs1236798008 | 639 | T>I | No |
TOPMed gnomAD |
|
| rs768747821 | 640 | Q>E | No |
ExAC TOPMed gnomAD |
|
|
COSM1331006 COSM1331007 |
640 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1402331941 | 641 | Q>K | No | gnomAD | |
|
COSM6112944 COSM6112943 |
641 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1371849243 | 642 | G>D | No | TOPMed | |
| rs1173718964 | 644 | W>L | No | gnomAD | |
| rs1056114420 | 644 | W>R | No |
TOPMed gnomAD |
|
|
COSM4397374 rs144314548 COSM4397375 |
645 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs976548498 | 647 | V>L | No | TOPMed | |
|
COSM4845620 COSM4845621 |
647 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 648 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6180521 COSM6180522 |
652 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753897446 | 653 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs1161701221 COSM5206687 COSM454496 |
653 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA Cosmic |
| rs753897446 | 653 | E>Q | No |
ExAC gnomAD |
|
| rs1367723319 | 654 | S>F | No | gnomAD | |
| rs765461155 | 655 | T>A | No |
ExAC gnomAD |
|
| rs1830227427 | 655 | T>I | No | gnomAD | |
| rs1444809310 | 656 | S>Y | No |
TOPMed gnomAD |
|
| rs1359322821 | 657 | C>F | No |
TOPMed gnomAD |
|
| rs1359322821 | 657 | C>Y | No |
TOPMed gnomAD |
|
| TCGA novel | 660 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1220314700 | 660 | L>V | No | gnomAD | |
|
COSM3648662 COSM3648663 |
662 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1830231789 | 663 | P>L | No | Ensembl | |
|
COSM454497 COSM5214135 |
663 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM750560 rs781317548 COSM1648068 |
665 | A>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs141286968 | 665 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs781317548 COSM4640863 COSM4640864 |
665 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1648067 COSM750559 |
666 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2131641160 | 666 | C>Y | No | Ensembl | |
| rs1830232520 | 669 | L>F | No | Ensembl | |
| rs777158239 | 672 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs777158239 | 672 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs770517680 | 672 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs770517680 | 672 | S>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 673 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1830232999 | 673 | F>S | No | TOPMed | |
| rs773941306 | 674 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1439408511 | 674 | G>R | No | gnomAD | |
| rs1442660056 | 675 | T>N | No | gnomAD | |
|
COSM6180518 COSM6180517 |
676 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1235538674 | 676 | Y>C | No |
TOPMed gnomAD |
|
| rs776038058 | 677 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1648066 rs776038058 |
677 | A>V | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs761905155 | 679 | T>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 680 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1451783356 | 680 | G>R | No |
TOPMed gnomAD |
|
|
COSM5214388 COSM454498 |
681 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1375756407 | 681 | E>K | No | TOPMed | |
| rs1830236344 | 683 | I>T | No | Ensembl | |
| rs765429272 | 683 | I>V | No |
ExAC gnomAD |
|
| rs1329904481 | 685 | D>N | No | gnomAD | |
| rs750640675 | 686 | C>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 687 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs868560243 | 687 | A>V | No | Ensembl | |
| rs1393657528 | 688 | V>A | No |
TOPMed gnomAD |
|
| rs1451011155 | 688 | V>M | No |
TOPMed gnomAD |
|
|
COSM3663746 rs368677725 |
690 | Q>* | liver [Cosmic] | No |
cosmic curated ESP ExAC gnomAD |
| rs1165474884 | 694 | A>V | No |
TOPMed gnomAD |
|
| rs1249298140 | 695 | V>A | No | gnomAD | |
| rs1361899229 | 698 | C>S | No | TOPMed | |
| rs1830241450 | 698 | C>S | No |
TOPMed gnomAD |
|
|
COSM3899835 COSM3899836 |
698 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs537388504 | 699 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs537388504 | 699 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1196195185 | 701 | C>R | No | gnomAD | |
| TCGA novel | 701 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756762927 | 701 | C>Y | No |
ExAC gnomAD |
|
|
COSM4390023 COSM4390024 |
702 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3648667 COSM3648666 |
703 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs373293699 | 703 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs745509872 | 704 | L>R | No |
ExAC TOPMed gnomAD |
|
|
COSM6112942 COSM6112941 |
704 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 705 | D>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1456787 COSM1456786 |
705 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6112939 COSM6112940 |
706 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 707 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775837539 | 707 | N>K | No |
ExAC gnomAD |
|
| rs1445358791 | 707 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 708 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1371579739 | 709 | R>S | No | gnomAD | |
|
COSM4909495 COSM4909494 |
711 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 712 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs919473093 | 712 | C>Y | No | Ensembl | |
| rs2131641741 | 714 | D>E | No | Ensembl | |
| TCGA novel | 714 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1830244082 | 714 | D>N | No | Ensembl | |
| rs1467587138 | 718 | C>W | No |
TOPMed gnomAD |
|
| rs747360847 | 718 | C>Y | No |
ExAC gnomAD |
|
| rs769068126 | 721 | Q>R | No |
ExAC gnomAD |
|
| rs1343230321 | 723 | V>M | No | gnomAD | |
| rs1801416026 | 724 | V>D | No | TOPMed | |
| rs1415863035 | 724 | V>L | No |
TOPMed gnomAD |
|
| TCGA novel | 726 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779633938 | 726 | D>H | No |
ExAC gnomAD |
|
|
rs779633938 COSM360424 |
726 | D>Y | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
VAR_059848 rs35487923 |
728 | R>K | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs781613574 | 728 | R>S | No |
ExAC TOPMed gnomAD |
|
|
COSM1597655 COSM1099394 |
731 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5214323 COSM454499 |
736 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1456789 COSM1456788 |
737 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773430549 | 738 | P>A | No |
ExAC gnomAD |
|
| rs763082953 | 739 | K>Q | No |
ExAC gnomAD |
|
| rs1801417701 | 739 | K>T | No | Ensembl | |
| rs774607141 | 744 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs373797867 | 745 | G>R | No |
ESP TOPMed |
|
| COSM73206 | 745 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1420556120 | 747 | T>N | No | TOPMed | |
|
COSM6180515 COSM6180516 |
750 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1801418789 | 752 | I>T | No | Ensembl | |
| TCGA novel | 753 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 753 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs569181933 | 755 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs569181933 | 755 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1453913582 | 756 | D>Y | No | gnomAD | |
| rs763939022 | 757 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs753521882 | 758 | P>A | No |
ExAC gnomAD |
|
|
rs1406321579 COSM3925228 COSM3925229 |
758 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1389457796 | 759 | P>Q | No | gnomAD | |
| rs765119398 | 759 | P>S | No |
ExAC gnomAD |
|
| rs765119398 | 759 | P>T | No |
ExAC gnomAD |
|
| rs1801420179 | 760 | F>L | No | gnomAD | |
| TCGA novel | 763 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 763 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 763 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1211090181 | 766 | P>Q | No | Ensembl | |
| rs1278744136 | 768 | T>A | No | gnomAD | |
| rs1801420933 | 771 | Q>R | No | gnomAD | |
|
COSM3925230 COSM3925231 |
772 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868162983 | 776 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM3925232 rs868162983 COSM3925233 |
776 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs749806606 | 777 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs749806606 | 777 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs1334662855 COSM5066556 |
777 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
COSM3951619 rs1334662855 |
777 | R>L | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs745896507 | 778 | V>M | No |
ExAC gnomAD |
|
| rs1173375171 | 781 | S>G | No |
TOPMed gnomAD |
|
| rs772365845 | 782 | N>D | No |
ExAC gnomAD |
|
| rs775556503 | 782 | N>K | No |
ExAC gnomAD |
|
| rs776286236 | 783 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM1650797 rs112851152 |
783 | R>Q | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
rs776286236 COSM211047 COSM1597654 |
783 | R>W | lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1801799198 | 784 | Q>R | No | Ensembl | |
| rs763336756 | 786 | L>M | No |
TOPMed gnomAD |
|
| rs762887900 | 786 | L>P | No |
ExAC gnomAD |
|
| rs952569669 | 787 | H>Y | No |
TOPMed gnomAD |
|
| rs1801799934 | 789 | A>D | No | TOPMed | |
| rs1247811818 | 791 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM750557 COSM1648065 |
792 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 792 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773938763 COSM3834623 COSM3834624 |
794 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1231806 rs1240940953 |
794 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1801801423 | 795 | Y>C | No | TOPMed | |
| rs758920980 | 796 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs758920980 | 796 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs756612078 | 797 | P>A | No | ExAC | |
| rs1423859938 | 798 | T>I | No | gnomAD | |
| rs754189665 | 800 | T>A | No |
ExAC gnomAD |
|
| rs747052973 | 802 | L>V | No | Ensembl | |
| rs1372115299 | 803 | S>P | No | Ensembl | |
| rs1334945488 | 804 | C>* | No | gnomAD | |
| rs2131711141 | 804 | C>Y | No | Ensembl | |
| rs1801803415 | 805 | K>T | No | TOPMed | |
| rs1344747609 | 806 | I>M | No | gnomAD | |
|
COSM6181056 COSM6181055 |
806 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1801803876 | 808 | I>N | No | Ensembl | |
| rs1801803739 | 808 | I>V | No | Ensembl | |
| rs1801804369 | 809 | R>P | No | gnomAD | |
| rs1801804369 | 809 | R>Q | No | gnomAD | |
|
rs758380728 COSM4480502 COSM4480501 |
809 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1015854245 | 812 | K>R | No |
TOPMed gnomAD |
|
| rs1223299959 | 814 | H>P | No | gnomAD | |
| rs768805769 | 815 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed |
| rs1801805313 | 816 | Q>* | No | gnomAD | |
| rs777545814 | 818 | L>F | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 818 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs535003701 | 819 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 820 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs552992605 | 820 | V>M | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 823 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs142825110 | 824 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1490072998 | 825 | L>V | No | gnomAD | |
| rs771476403 | 826 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs759125338 | 826 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs759125338 | 826 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs760215205 | 827 | S>N | No |
ExAC gnomAD |
|
| rs1802139888 | 827 | S>R | No | gnomAD | |
|
rs530508170 COSM2959507 COSM2959506 |
829 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1243093986 | 833 | T>I | No | gnomAD | |
| rs776396542 | 834 | F>L | No |
ExAC gnomAD |
|
| rs763472547 | 836 | A>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 836 | A>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1456790 COSM1456791 rs763472547 |
836 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM750556 COSM1648064 rs1270541009 |
836 | A>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 840 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751657864 | 842 | F>C | No |
ExAC gnomAD |
|
| rs751657864 | 842 | F>S | No |
ExAC gnomAD |
|
| rs564199277 | 842 | F>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM4894064 COSM4894063 |
843 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1802142345 | 844 | A>E | No | TOPMed | |
| rs1802142643 | 845 | Q>R | No | gnomAD | |
| TCGA novel | 846 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752857400 | 847 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs745637564 | 850 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs745637564 | 850 | A>G | No |
ExAC TOPMed gnomAD |
|
|
rs758433570 COSM3382231 |
852 | K>E | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1332679776 | 853 | I>F | No | gnomAD | |
| TCGA novel | 854 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4481972 COSM4481971 |
854 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746562654 | 856 | S>A | No |
ExAC gnomAD |
|
|
COSM1597651 COSM1099397 |
856 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1410228023 | 857 | I>F | No | TOPMed | |
|
COSM1699976 COSM1699975 rs773478021 |
860 | R>Q | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747771719 COSM3899839 COSM3899840 |
860 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel rs1802145909 |
864 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1042692792 | 866 | D>H | No |
TOPMed gnomAD |
|
| COSM486406 | 866 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1802146273 | 866 | D>V | No | Ensembl | |
| rs1042692792 | 866 | D>Y | No |
TOPMed gnomAD |
|
| rs766916110 | 867 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs766916110 | 867 | T>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 869 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774808824 | 869 | N>S | No |
ExAC TOPMed gnomAD |
|
|
COSM6181054 COSM6181053 |
870 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4930796 COSM4930795 |
870 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1099398 rs1258419001 |
871 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
COSM1581909 rs767570017 |
871 | K>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs943756058 | 872 | G>A | No |
TOPMed gnomAD |
|
| rs943756058 | 872 | G>D | No |
TOPMed gnomAD |
|
|
COSM1648063 COSM750555 |
872 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1192832569 | 873 | K>R | No | gnomAD | |
|
COSM3648677 COSM3648676 |
874 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 876 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131740698 | 880 | Q>H | No | Ensembl | |
|
COSM1456793 COSM1456792 |
883 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1802148146 | 883 | S>T | No | Ensembl | |
|
COSM3648680 COSM3648681 |
886 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2959516 rs374094705 COSM2959517 |
892 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1802981763 | 893 | T>A | No | TOPMed | |
| rs528674135 | 893 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs528674135 | 893 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs529738451 | 894 | Q>E | No | gnomAD | |
| rs1301957487 | 894 | Q>H | No | gnomAD | |
| rs529738451 | 894 | Q>K | No | gnomAD | |
|
COSM6113494 COSM6113495 |
895 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1648062 COSM750554 |
897 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335043872 | 900 | V>I | No |
TOPMed gnomAD |
|
| TCGA novel | 901 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1802983609 | 907 | A>S | No | TOPMed | |
| rs1802983839 | 908 | R>C | No | gnomAD | |
| rs751336124 | 908 | R>H | No |
ExAC gnomAD |
|
| rs751336124 | 908 | R>L | No |
ExAC gnomAD |
|
| rs781132663 | 909 | H>Q | No |
ExAC gnomAD |
|
|
COSM4483713 COSM4483712 |
910 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1487732118 | 910 | Q>L | No | gnomAD | |
| rs1268705619 | 911 | H>P | No |
TOPMed gnomAD |
|
| rs1268705619 | 911 | H>R | No |
TOPMed gnomAD |
|
| rs1802985314 | 912 | D>N | No | Ensembl | |
| rs1586652610 | 912 | D>V | No | Ensembl | |
| TCGA novel | 913 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1231266951 | 913 | G>S | No | Ensembl | |
| rs143876791 | 914 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1384718354 | 914 | D>N | No |
TOPMed gnomAD |
|
|
COSM1597649 COSM1099400 |
915 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755616101 | 915 | L>V | No |
ExAC gnomAD |
|
| TCGA novel | 917 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1802986604 COSM5636195 COSM5636196 |
919 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs568619133 | 921 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1419776435 | 921 | A>V | No |
TOPMed gnomAD |
|
| rs1011412589 | 922 | L>F | No | Ensembl | |
|
COSM3899841 COSM3899842 |
922 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs867414350 | 923 | E>K | No | Ensembl | |
| rs1459272155 | 925 | I>T | No | gnomAD | |
| rs770510983 | 925 | I>V | No |
ExAC gnomAD |
|
| rs190943010 | 926 | G>E | No |
1000Genomes ExAC gnomAD |
|
|
COSM3432386 COSM3432387 |
926 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1802988473 | 927 | R>K | No | TOPMed | |
| rs746183746 | 929 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs772507164 | 929 | H>R | No |
ExAC gnomAD |
|
| rs746183746 | 929 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs199798586 | 930 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199798586 | 930 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs978039362 | 931 | K>E | No | gnomAD | |
| rs776798703 | 932 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs776798703 | 932 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs762133065 | 933 | S>* | No |
ExAC gnomAD |
|
| rs1320101565 | 933 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM4767803 COSM4767804 |
936 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2131817027 | 938 | S>Y | No | 1000Genomes | |
| rs951118367 | 939 | Q>H | No | TOPMed | |
| TCGA novel | 939 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs539471379 | 940 | L>R | No |
1000Genomes gnomAD |
|
| rs2131817076 | 941 | D>Y | No | Ensembl | |
| rs765519729 | 942 | E>Q | No |
ExAC TOPMed |
|
|
COSM750553 COSM1648061 |
943 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1802991788 | 944 | D>E | No | TOPMed | |
|
COSM2959529 rs751419722 COSM2959528 |
944 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 945 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 946 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767391530 | 950 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 951 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755637090 | 952 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs142470006 | 954 | L>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q6UXZ4
14 regional properties for Q6UXZ4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 621 - 882 | IPR000719 |
| domain | Ephrin receptor ligand binding domain | 29 - 206 | IPR001090 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 622 - 878 | IPR001245 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 182 - 202 | IPR001426-1 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 243 - 263 | IPR001426-2 |
| domain | Sterile alpha motif domain | 908 - 975 | IPR001660 |
| domain | Fibronectin type III | 324 - 434 | IPR003961-1 |
| domain | Fibronectin type III | 435 - 530 | IPR003961-2 |
| active_site | Tyrosine-protein kinase, active site | 742 - 754 | IPR008266 |
| domain | Tyrosine-protein kinase ephrin type A/B receptor-like | 269 - 302 | IPR011641 |
| binding_site | Protein kinase, ATP binding site | 627 - 653 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 621 - 878 | IPR020635 |
| domain | Ephrin receptor, transmembrane domain | 543 - 618 | IPR027936 |
| domain | Ephrin type-A receptor 3, ligand binding domain | 29 - 200 | IPR034266 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| netrin receptor activity | Combining with a netrin signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| 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. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| pyramidal neuron differentiation | The process in which a neuroblast or one of its progeny commits to a pyramidal neuron fate, migrates from the ventricular zone to the appropriate layer in the cortex and develops into a mature neuron. |
| regulation of neuron migration | Any process that modulates the frequency, rate or extent of neuron migration. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7T2Z5 | UNC5C | Netrin receptor UNC5C | Gallus gallus (Chicken) | SS |
| Q6ZN44 | UNC5A | Netrin receptor UNC5A | Homo sapiens (Human) | SS |
| Q8IZJ1 | UNC5B | Netrin receptor UNC5B | Homo sapiens (Human) | SS |
| O95185 | UNC5C | Netrin receptor UNC5C | Homo sapiens (Human) | SS |
| O08747 | Unc5c | Netrin receptor UNC5C | Mus musculus (Mouse) | SS |
| Q8K1S3 | Unc5b | Netrin receptor UNC5B | Mus musculus (Mouse) | SS |
| Q8K1S4 | Unc5a | Netrin receptor UNC5A | Mus musculus (Mouse) | SS |
| Q8K1S2 | Unc5d | Netrin receptor UNC5D | Mus musculus (Mouse) | SS |
| O08721 | Unc5a | Netrin receptor UNC5A | Rattus norvegicus (Rat) | SS |
| O08722 | Unc5b | Netrin receptor UNC5B | Rattus norvegicus (Rat) | EV |
| Q761X5 | Unc5c | Netrin receptor UNC5C | Rattus norvegicus (Rat) | SS |
| F1LW30 | Unc5d | Netrin receptor UNC5D | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRAAATAGG | GGGARRWLPW | LGLCFWAAGT | AAARGTDNGE | ALPESIPSAP | GTLPHFIEEP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDAYIIKSNP | IALRCKARPA | MQIFFKCNGE | WVHQNEHVSE | ETLDESSGLK | VREVFINVTR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QQVEDFHGPE | DYWCQCVAWS | HLGTSKSRKA | SVRIAYLRKN | FEQDPQGREV | PIEGMIVLHC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RPPEGVPAAE | VEWLKNEEPI | DSEQDENIDT | RADHNLIIRQ | ARLSDSGNYT | CMAANIVAKR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSLSATVVVY | VNGGWSSWTE | WSACNVRCGR | GWQKRSRTCT | NPAPLNGGAF | CEGMSVQKIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CTSLCPVDGS | WEVWSEWSVC | SPECEHLRIR | ECTAPPPRNG | GKFCEGLSQE | SENCTDGLCI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LDKKPLHEIK | PQSIENASDI | ALYSGLGAAV | VAVAVLVIGV | TLYRRSQSDY | GVDVIDSSAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGGFQTFNFK | TVRQGNSLLL | NSAMQPDLTV | SRTYSGPICL | QDPLDKELMT | ESSLFNPLSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IKVKVQSSFM | VSLGVSERAE | YHGKNHSRTF | PHGNNHSFST | MHPRNKMPYI | QNLSSLPTRT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ELRTTGVFGH | LGGRLVMPNT | GVSLLIPHGA | IPEENSWEIY | MSINQGEPSL | QSDGSEVLLS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PEVTCGPPDM | IVTTPFALTI | PHCADVSSEH | WNIHLKKRTQ | QGKWEEVMSV | EDESTSCYCL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LDPFACHVLL | DSFGTYALTG | EPITDCAVKQ | LKVAVFGCMS | CNSLDYNLRV | YCVDNTPCAF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QEVVSDERHQ | GGQLLEEPKL | LHFKGNTFSL | QISVLDIPPF | LWRIKPFTAC | QEVPFSRVWC |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SNRQPLHCAF | SLERYTPTTT | QLSCKICIRQ | LKGHEQILQV | QTSILESERE | TITFFAQEDS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TFPAQTGPKA | FKIPYSIRQR | ICATFDTPNA | KGKDWQMLAQ | KNSINRNLSY | FATQSSPSAV |
| 910 | 920 | 930 | 940 | 950 | |
| ILNLWEARHQ | HDGDLDSLAC | ALEEIGRTHT | KLSNISESQL | DEADFNYSRQ | NGL |