Q9NV70
PR
Gene name |
EXOC1 (SEC3, SEC3L1, BM-012) |
Protein name |
Exocyst complex component 1 |
Names |
Exocyst complex component Sec3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55763 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NV70
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NV70-F1 | Predicted | AlphaFoldDB |
555 variants for Q9NV70
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs768562173 CA96946009 |
2 | T>A | No |
ClinGen Ensembl |
|
|
CA2926786 rs772125470 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356969515 rs1178409264 |
6 | H>R | No |
ClinGen gnomAD |
|
|
rs192310507 COSM3826005 CA96946022 |
19 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs1220861578 CA356969838 |
21 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96946028 rs931764347 |
23 | I>L | No |
ClinGen TOPMed |
|
|
CA2926788 rs185643733 |
23 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2926790 rs549052775 |
29 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356969933 rs1438009648 |
30 | G>E | No |
ClinGen gnomAD |
|
|
rs1259458140 CA356969930 |
30 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2926791 rs775167521 |
32 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1232646289 CA356969976 |
36 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356969977 rs1232646289 |
36 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356969985 rs1193418669 |
37 | F>V | No |
ClinGen gnomAD |
|
| rs770312166 | 38 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560327319 CA356970035 |
41 | T>I | No |
ClinGen Ensembl |
|
|
rs190108895 CA2926793 |
41 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2926820 rs755365112 |
44 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926821 rs779339310 |
46 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926822 COSM1430246 rs200940249 |
46 | R>H | lung ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356970219 rs1267909106 |
47 | P>S | No |
ClinGen gnomAD |
|
|
rs1357963178 CA356970253 |
49 | Q>K | No |
ClinGen gnomAD |
|
|
rs1283076264 CA356970267 |
49 | Q>P | No |
ClinGen TOPMed |
|
|
CA2926823 rs758640134 |
51 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352298979 CA356970304 |
51 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2926825 rs146319634 |
56 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356970404 rs1240682944 |
58 | S>T | No |
ClinGen TOPMed |
|
|
CA2926828 rs749247741 |
62 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1057420927 CA96946778 |
64 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs148511386 CA2926829 |
64 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356970562 rs1384368526 |
65 | K>R | No |
ClinGen gnomAD |
|
|
CA2926830 rs774211688 |
68 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA356970635 rs774211688 |
68 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2926834 rs772968512 |
71 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2926832 rs767114416 |
71 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926833 rs772968512 |
71 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765907837 CA2926835 |
73 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765907837 CA356970841 |
73 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926836 rs142763985 |
73 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760100233 CA2926837 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2926838 rs765610018 COSM70660 |
75 | L>P | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356970920 rs1364598626 |
76 | A>G | No |
ClinGen TOPMed |
|
|
rs753089224 CA2926839 |
76 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2926840 rs758728138 |
77 | V>L | No |
ClinGen ExAC |
|
|
rs375223350 CA2926841 |
78 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751772261 CA2926842 |
82 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA96946796 rs867733863 |
83 | A>D | No |
ClinGen gnomAD |
|
|
CA356971079 rs867733863 |
83 | A>G | No |
ClinGen gnomAD |
|
|
CA2926844 rs151033094 |
84 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1184431172 CA356971097 |
84 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs151033094 CA2926843 |
84 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242694542 CA356971128 |
85 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377279272 CA2926858 |
86 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2926859 rs201972626 |
87 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2926860 rs757517753 |
88 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356959259 rs1403315395 |
93 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356959255 rs1577697562 |
93 | H>Y | No |
ClinGen Ensembl |
|
|
rs1463177342 CA356959282 |
94 | F>L | No |
ClinGen gnomAD |
|
|
rs1414449453 CA356959268 |
94 | F>L | No |
ClinGen TOPMed |
|
|
rs371122349 CA2926861 |
98 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA96938518 rs754001082 |
98 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756118480 CA2926863 |
101 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA356959432 rs1347891989 |
106 | A>T | No |
ClinGen gnomAD |
|
|
rs1224700855 CA356959443 |
107 | E>K | No |
ClinGen gnomAD |
|
|
CA356959474 rs748085616 COSM260729 |
108 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356959522 rs1577697665 |
112 | I>V | No |
ClinGen Ensembl |
|
|
rs777722988 CA2926867 |
120 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs191542392 CA2926868 |
121 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356959653 rs1480704275 |
121 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2926869 rs770644896 |
123 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745429232 CA2926871 COSM3826006 |
124 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs144495596 CA2926870 |
124 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356959695 rs1372081033 |
125 | K>E | No |
ClinGen gnomAD |
|
|
rs549406909 CA2926872 |
125 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1367896743 CA356959733 |
127 | I>M | No |
ClinGen gnomAD |
|
|
CA2926873 rs776047947 |
127 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356959764 rs1406070141 |
129 | F>C | No |
ClinGen gnomAD |
|
|
CA356959779 rs1365575311 |
130 | V>A | No |
ClinGen gnomAD |
|
|
rs763460369 CA2926874 |
130 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs764529701 CA2926875 |
131 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2926876 rs201227231 |
131 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762044757 CA2926877 |
132 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA356959806 rs1280502539 |
133 | S>G | No |
ClinGen Ensembl |
|
|
CA356959838 rs1490467993 |
137 | L>W | No |
ClinGen gnomAD |
|
|
CA96938600 rs139662396 |
138 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs1402928264 CA356960622 |
140 | S>F | No |
ClinGen gnomAD |
|
|
rs772310350 CA2926897 |
140 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs760819792 CA2926899 |
145 | E>Q | No |
ClinGen ExAC |
|
|
rs1477584431 CA356960706 |
146 | N>K | No |
ClinGen gnomAD |
|
|
rs144516833 CA2926900 |
147 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455646269 CA356960722 |
148 | S>C | No |
ClinGen gnomAD |
|
|
CA356960729 rs1423309510 |
148 | S>T | No |
ClinGen gnomAD |
|
|
rs902246251 CA96940483 |
149 | V>M | No |
ClinGen gnomAD |
|
|
CA2926902 rs147825543 |
150 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356960780 rs1295370086 |
152 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283559253 CA356960837 |
156 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751433971 CA2926904 |
156 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA356960863 rs1441654821 |
158 | D>V | No |
ClinGen TOPMed |
|
|
CA2926905 rs757139492 |
159 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780857976 CA2926907 |
169 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1031050876 CA96940497 |
170 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2926908 rs750179198 |
171 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356961072 rs1471907171 |
172 | E>D | No |
ClinGen gnomAD |
|
|
CA2926909 rs755789256 COSM3428563 |
172 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356961104 rs1406978780 |
174 | M>I | No |
ClinGen gnomAD |
|
|
CA2926910 rs779644856 |
174 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96940506 rs141291877 |
175 | M>T | No |
ClinGen ESP TOPMed |
|
|
rs1469466393 CA356961115 |
176 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2926911 rs200864049 |
178 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356961141 rs1356062153 |
179 | E>D | No |
ClinGen gnomAD |
|
|
CA2926913 rs768134662 |
180 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926912 rs768134662 |
180 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926914 rs748600001 |
182 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA356961156 rs1456972140 |
182 | I>V | No |
ClinGen TOPMed |
|
|
CA2926915 rs772571818 |
183 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2926916 rs773470317 |
185 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771317758 CA2926918 |
187 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA356961203 rs1438059668 |
189 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776968740 CA2926919 |
191 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA96940554 rs979991122 |
193 | S>C | No |
ClinGen TOPMed |
|
|
rs769307911 CA2926922 |
194 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA356961263 rs1480191014 |
196 | L>P | No |
ClinGen gnomAD |
|
|
rs767444415 CA2926924 |
197 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926925 rs767444415 |
197 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327895610 CA356961321 |
201 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs763051613 CA2926952 |
208 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA356962156 rs1246354286 |
209 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356962155 rs1246354286 |
209 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1560337392 CA356962165 |
210 | S>F | No |
ClinGen Ensembl |
|
|
rs1183926126 CA356962197 |
213 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753183532 CA2926956 |
216 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926955 rs753183532 |
216 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773180012 CA2926954 |
216 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356962272 rs1456191249 |
217 | L>P | No |
ClinGen gnomAD |
|
|
rs377516805 CA2926957 |
222 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377516805 CA356962349 |
222 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2926958 rs754646510 |
224 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1577709855 CA356962403 |
224 | A>P | No |
ClinGen Ensembl |
|
|
CA96941431 rs897754285 |
226 | K>R | No |
ClinGen Ensembl |
|
|
CA356962434 rs1340299329 |
227 | E>K | No |
ClinGen gnomAD |
|
|
rs1243246502 CA356962461 |
229 | D>Y | No |
ClinGen gnomAD |
|
|
rs764903178 CA2926959 |
230 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA96941432 rs756658541 |
230 | Q>R | No |
ClinGen TOPMed |
|
|
CA356962500 rs1352049152 |
231 | I>T | No |
ClinGen gnomAD |
|
|
rs1266346803 CA356962565 |
235 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356962592 rs1577709964 |
237 | S>G | No |
ClinGen Ensembl |
|
|
CA2926961 rs757902363 |
238 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926962 rs778199203 |
239 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96941438 rs182283845 |
239 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356962730 COSM734112 rs1208603988 |
249 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2926964 rs757768400 |
249 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781697685 CA2926965 |
250 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2926967 rs769944790 |
253 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2926968 rs775752378 |
254 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749380037 CA2926969 |
256 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2926970 rs149053656 |
256 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356962799 rs1399612495 |
257 | H>L | No |
ClinGen gnomAD |
|
|
CA356962819 rs1234284871 |
259 | I>V | No |
ClinGen TOPMed |
|
|
CA356962832 rs773202822 |
260 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs773202822 CA2926971 |
260 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760612698 CA2926972 |
262 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2926973 rs766247298 |
266 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2926974 rs766247298 |
266 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356962950 rs1305330003 |
268 | K>N | No |
ClinGen TOPMed |
|
|
CA356962980 rs1351477926 |
271 | S>Y | No |
ClinGen TOPMed |
|
|
CA2926976 rs764845637 |
273 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs752377692 CA2926977 |
275 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1482409264 CA356963050 |
276 | L>P | No |
ClinGen gnomAD |
|
|
CA356963055 rs1459225157 |
277 | V>A | No |
ClinGen gnomAD |
|
|
CA356963053 rs762433095 |
277 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2926978 rs762433095 |
277 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA356963072 rs1167117712 |
278 | N>Y | No |
ClinGen gnomAD |
|
|
CA356963083 rs1367954320 |
279 | H>R | No |
ClinGen gnomAD |
|
|
rs368504673 CA2927000 |
280 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs956968903 CA96941534 |
281 | D>N | No |
ClinGen gnomAD |
|
|
rs956968903 CA356963095 |
281 | D>Y | No |
ClinGen gnomAD |
|
|
rs1365644087 CA356963117 |
284 | K>T | No |
ClinGen gnomAD |
|
|
CA356963125 rs1324196620 |
285 | G>D | No |
ClinGen TOPMed |
|
|
rs1227314656 CA356963123 |
285 | G>R | No |
ClinGen TOPMed |
|
|
rs988128039 CA356963151 |
289 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs988128039 CA96941536 |
289 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763787664 CA2927001 |
292 | E>K | No |
ClinGen ExAC |
|
|
CA356963180 rs1298699745 |
293 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751148319 CA2927002 |
297 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1560338137 CA356963268 |
301 | I>V | No |
ClinGen Ensembl |
|
|
CA356963315 rs371142509 |
302 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220800958 CA356963336 |
303 | A>D | No |
ClinGen gnomAD |
|
|
rs1393206911 CA356963324 |
303 | A>S | No |
ClinGen TOPMed |
|
|
rs866068231 CA96941550 |
305 | T>I | No |
ClinGen gnomAD |
|
|
rs756502973 CA2927006 |
306 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927008 rs754095123 |
308 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA96941557 rs755252003 |
309 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2927009 rs755252003 |
309 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2927010 rs779073924 |
311 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1164769193 CA356963522 |
312 | L>P | No |
ClinGen gnomAD |
|
|
CA2927011 rs748274634 |
313 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1167308566 CA356963582 |
315 | M>I | No |
ClinGen TOPMed |
|
|
rs1455358155 CA356963575 |
315 | M>R | No |
ClinGen gnomAD |
|
|
rs1199431513 CA356963562 |
315 | M>V | No |
ClinGen gnomAD |
|
|
CA2927012 rs772125627 |
316 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745819122 CA2927014 |
320 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1190513919 CA356963662 |
320 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2927015 rs769557546 |
321 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA96941779 rs1054967404 |
323 | H>R | No |
ClinGen TOPMed |
|
|
CA356964016 rs1354526939 |
324 | D>N | No |
ClinGen TOPMed |
|
|
CA2927031 rs752911368 |
324 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148191128 CA2927032 |
325 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA96941781 rs148191128 |
325 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356964091 rs1287133729 |
326 | L>F | No |
ClinGen gnomAD |
|
|
CA96941783 rs893205233 |
326 | L>P | No |
ClinGen TOPMed |
|
|
rs747009885 CA2927034 |
331 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA356964206 rs1560338870 |
332 | Q>P | No |
ClinGen Ensembl |
|
|
rs1236128652 CA356964229 |
333 | Q>E | No |
ClinGen gnomAD |
|
|
rs1170498725 CA356964237 |
333 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs909085906 CA96941792 |
335 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2927035 rs376669086 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 337 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112233016 CA2927036 |
337 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2927038 rs768562119 |
340 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2927039 rs145136256 |
340 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356964501 rs1275382099 |
342 | L>V | No |
ClinGen TOPMed |
|
|
CA356964588 rs1445654724 |
344 | A>T | No |
ClinGen gnomAD |
|
|
CA96941803 rs865865694 |
344 | A>V | No |
ClinGen Ensembl |
|
|
CA2927042 rs772802858 |
345 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771792191 CA2927041 |
345 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356964652 COSM94258 rs1410346802 |
346 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2927044 rs766957814 |
348 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759960691 CA2927046 |
349 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1274957180 CA356964715 |
349 | S>I | No |
ClinGen gnomAD |
|
|
rs765589939 CA2927047 |
353 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356964796 rs1220241225 |
353 | N>S | No |
ClinGen TOPMed |
|
|
CA356964845 rs1341126530 |
355 | F>C | No |
ClinGen gnomAD |
|
|
rs758638522 CA2927049 |
356 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs188265841 CA2927050 |
357 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2927069 rs751720337 |
360 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2927070 rs762023741 |
362 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA356967446 rs1560344122 |
362 | Q>R | No |
ClinGen Ensembl |
|
|
rs1227086442 CA356967484 |
363 | S>C | No |
ClinGen Ensembl |
|
|
CA356967489 rs1473728869 |
363 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356967515 rs375462058 |
364 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2927071 rs375462058 |
364 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163837118 CA356967505 |
364 | S>P | No |
ClinGen gnomAD |
|
|
CA356967533 rs1319739119 |
365 | T>S | No |
ClinGen gnomAD |
|
|
rs1009581287 CA96943380 |
366 | L>P | No |
ClinGen Ensembl |
|
|
CA356967613 rs1297297353 |
367 | A>T | No |
ClinGen gnomAD |
|
|
rs1412254927 CA356967664 |
368 | Q>* | No |
ClinGen gnomAD |
|
|
rs778954891 CA2927074 |
368 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA356967721 rs1285234388 |
369 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA356967795 rs1208089372 |
373 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356967813 rs1287552690 |
374 | T>I | No |
ClinGen TOPMed |
|
|
rs758112657 CA2927076 |
377 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777546969 CA2927077 |
378 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs927625409 CA356967929 |
380 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs968145029 CA96943386 |
380 | P>L | No |
ClinGen Ensembl |
|
|
CA356967930 rs927625409 |
380 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA96943385 rs927625409 |
380 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1399369814 CA356968014 |
382 | H>R | No |
ClinGen gnomAD |
|
|
CA96943388 rs980583108 |
383 | R>K | No |
ClinGen Ensembl |
|
|
CA96943393 rs926506895 |
384 | D>N | No |
ClinGen Ensembl |
|
|
rs746644323 CA2927078 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM447962 rs1332633276 CA356968129 |
386 | L>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA356968156 rs1425260892 |
387 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2927079 rs770558924 |
387 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188008609 CA356968196 |
388 | Y>* | No |
ClinGen TOPMed |
|
|
CA356968189 rs1471786555 |
388 | Y>C | No |
ClinGen gnomAD |
|
|
rs780586049 CA2927080 |
388 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2927081 rs745338525 |
389 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2927082 rs770323004 |
393 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA356968319 rs775956319 |
395 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356968349 rs1335303228 |
396 | K>E | No |
ClinGen gnomAD |
|
|
CA2927084 rs564100757 |
397 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768902540 CA2927085 |
398 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290272748 CA356968438 |
399 | D>G | No |
ClinGen gnomAD |
|
|
rs774715378 CA2927086 |
400 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356968460 rs1329997677 |
400 | Y>N | No |
ClinGen gnomAD |
|
|
rs761954811 CA2927087 |
401 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1484372016 CA356968541 |
403 | Y>C | No |
ClinGen gnomAD |
|
|
CA2927088 rs746617692 |
405 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356968590 rs1264823854 |
406 | L>V | No |
ClinGen TOPMed |
|
|
CA356968616 rs1440607994 |
407 | T>A | No |
ClinGen gnomAD |
|
|
CA2927089 rs750564791 |
408 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749531381 CA356971278 |
410 | Y>* | No |
ClinGen gnomAD |
|
|
CA356971304 rs1268897701 |
411 | M>I | No |
ClinGen gnomAD |
|
|
CA2927103 rs769153477 |
411 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568448391 CA96944903 |
415 | S>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs867077748 CA96944906 COSM3409375 |
416 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA356971394 rs1375573572 |
416 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2927105 rs748505369 |
417 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1577734520 CA356971556 |
422 | I>S | No |
ClinGen Ensembl |
|
|
CA2927107 rs773547427 |
423 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760902141 CA2927108 |
424 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA356971639 rs1296503124 |
425 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2927109 rs766570069 |
426 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA356971663 rs1384070019 |
426 | F>L | No |
ClinGen TOPMed |
|
|
rs1200102772 CA356971687 |
427 | E>D | No |
ClinGen gnomAD |
|
|
rs776792823 CA2927110 |
428 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762821149 CA2927111 |
429 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2927113 rs751347826 |
431 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1275130081 CA356971799 |
432 | K>E | No |
ClinGen gnomAD |
|
|
CA96944921 rs375752640 |
437 | T>A | No |
ClinGen ESP gnomAD |
|
|
CA356972022 rs757051243 |
440 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 440 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356972027 rs1266689748 |
440 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757051243 CA2927114 |
440 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2927126 rs747247441 |
445 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1232404180 CA356974360 |
448 | R>Q | No |
ClinGen gnomAD |
|
|
CA2927127 rs771228009 |
450 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914370302 CA96946218 |
451 | S>N | No |
ClinGen TOPMed |
|
|
CA2927128 rs776877130 |
452 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759626434 CA2927129 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138967372 CA2927130 |
453 | V>I | No |
ClinGen ESP ExAC |
|
|
CA356974524 rs1416532472 |
454 | K>R | No |
ClinGen gnomAD |
|
|
rs1424936626 CA356974546 |
455 | Q>E | No |
ClinGen gnomAD |
|
|
rs1164138202 CA356974578 |
456 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459015032 CA356974609 |
458 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1430252 CA356974951 rs1160024943 |
464 | S>L | large_intestine Variant assessed as Somatic; 0.0001388 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs781450824 CA2927148 |
466 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769910896 CA2927150 |
467 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA96946585 rs895818108 |
471 | T>A | No |
ClinGen Ensembl |
|
|
rs761755575 CA2927152 |
472 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA96946590 rs150856562 |
473 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs1352271259 CA356975096 |
473 | S>N | No |
ClinGen gnomAD |
|
|
CA356975128 rs1409852324 |
475 | N>S | No |
ClinGen gnomAD |
|
|
CA356975183 rs1287198650 |
478 | S>I | No |
ClinGen gnomAD |
|
|
CA96946593 rs112123519 |
479 | V>A | No |
ClinGen Ensembl |
|
|
CA356975194 rs1180150525 |
479 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1370691186 CA356975238 |
481 | S>R | No |
ClinGen gnomAD |
|
|
CA96946597 rs370421022 |
485 | R>C | No |
ClinGen TOPMed |
|
|
rs1281156642 CA356975287 |
485 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1281156642 CA356975288 |
485 | R>P | No |
ClinGen gnomAD |
|
|
CA356975295 rs1313073881 |
486 | R>* | No |
ClinGen gnomAD |
|
|
CA356975316 rs1210631528 |
487 | S>F | No |
ClinGen gnomAD |
|
|
CA356975410 rs1424945039 |
492 | L>R | No |
ClinGen TOPMed |
|
|
CA2927157 rs377634850 |
495 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2927158 rs759041959 |
497 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1193209788 CA356975588 |
500 | A>T | No |
ClinGen gnomAD |
|
|
CA2927161 rs759005498 |
504 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs759005498 CA356975666 |
504 | D>N | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778388685 CA2927162 |
505 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757680538 CA2927164 |
507 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927165 rs781333428 |
509 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2927167 rs769854061 |
512 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1477956377 CA356975883 |
513 | K>N | No |
ClinGen gnomAD |
|
|
CA2927186 rs780112966 |
514 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs780112966 CA2927185 |
514 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs755040052 CA2927187 |
515 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777756588 CA2927188 |
516 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1490263408 CA356977536 |
517 | Q>* | No |
ClinGen TOPMed |
|
|
rs199752108 CA2927191 |
526 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356977661 rs1305020301 |
526 | C>R | No |
ClinGen gnomAD |
|
|
rs199752108 CA2927192 |
526 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356977691 rs1459544855 |
528 | A>S | No |
ClinGen gnomAD |
|
|
CA2927194 rs775268576 |
529 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1388934969 CA356977722 |
530 | Q>E | No |
ClinGen gnomAD |
|
|
CA2927195 rs762617098 |
531 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436214257 CA356977740 |
531 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs149586673 CA96946789 |
533 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356977811 rs1270321281 |
534 | S>G | No |
ClinGen TOPMed |
|
|
rs144260319 CA2927197 |
534 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144260319 CA356977824 |
534 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356977834 rs1231537117 |
535 | K>E | No |
ClinGen gnomAD |
|
|
rs1270191906 CA356977843 |
535 | K>T | No |
ClinGen gnomAD |
|
|
rs1204294551 CA356977885 |
537 | F>L | No |
ClinGen gnomAD |
|
|
rs1188242527 CA356977977 |
541 | Q>H | No |
ClinGen gnomAD |
|
|
rs1560356403 CA356977966 |
541 | Q>R | No |
ClinGen Ensembl |
|
|
rs141491553 CA96946791 |
542 | H>R | No |
ClinGen 1000Genomes |
|
|
CA2927199 rs773943598 |
543 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773943598 CA356978004 |
543 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265178429 CA356978013 |
543 | Q>R | No |
ClinGen gnomAD |
|
|
rs1019895007 CA96946794 |
544 | S>G | No |
ClinGen TOPMed |
|
|
rs1473905945 CA356978040 |
544 | S>N | No |
ClinGen gnomAD |
|
|
CA2927200 rs762407218 |
546 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA96946798 rs1029976482 |
547 | G>E | No |
ClinGen Ensembl |
|
|
rs767872531 CA2927201 |
549 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA356978368 rs1194601898 |
550 | A>S | No |
ClinGen TOPMed |
|
|
rs761198314 CA2927217 |
551 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356978418 rs1375336714 |
552 | A>T | No |
ClinGen gnomAD |
|
|
rs1433453547 CA356978435 |
553 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2927219 rs773582535 |
554 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2927218 rs768123380 |
554 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1577760377 CA356978505 |
555 | L>V | No |
ClinGen Ensembl |
|
|
rs372812327 CA2927221 |
556 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2927220 rs369562471 |
556 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2927222 rs372812327 |
556 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96947070 rs767665687 |
557 | G>R | No |
ClinGen Ensembl |
|
|
rs1212309644 CA356978578 |
559 | T>P | No |
ClinGen TOPMed |
|
|
rs1302463629 CA356978634 |
561 | S>P | No |
ClinGen gnomAD |
|
|
rs370954621 CA2927228 COSM1205801 |
562 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs758394920 CA2927227 |
562 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756019464 CA2927229 |
563 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA356978724 rs752429412 |
564 | H>P | No |
ClinGen gnomAD |
|
|
CA96947090 rs752429412 |
564 | H>R | No |
ClinGen gnomAD |
|
|
rs780019089 CA2927230 |
564 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1353870183 CA356978764 |
566 | C>Y | No |
ClinGen TOPMed |
|
|
CA356978800 rs1433447544 |
567 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356978833 rs1402592953 |
569 | P>S | No |
ClinGen TOPMed |
|
|
CA356978856 rs1560357941 |
570 | L>R | No |
ClinGen Ensembl |
|
|
rs1453109859 CA356978868 |
571 | P>R | No |
ClinGen gnomAD |
|
|
rs752491841 CA2927234 |
573 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752491841 CA96947098 |
573 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356979139 rs1164404090 |
575 | E>D | No |
ClinGen gnomAD |
|
|
CA356978941 rs1296555198 |
575 | E>Q | No |
ClinGen gnomAD |
|
|
CA2927250 rs756154218 |
577 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356979177 rs1356239906 |
577 | D>Y | No |
ClinGen TOPMed |
|
|
rs367651062 CA356979209 |
578 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2927251 rs367651062 |
578 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436951912 CA356979199 |
578 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2927252 rs753736295 |
580 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1205800 rs754810927 CA2927253 |
580 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs747763618 CA2927255 |
582 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs932825890 CA96947274 |
583 | M>I | No |
ClinGen gnomAD |
|
|
CA2927257 rs372191461 |
586 | I>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 586 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200791500 CA2927256 |
586 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746493906 COSM1056194 CA2927258 |
588 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2927259 rs771473504 |
588 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA356979573 rs1424003554 |
590 | I>V | No |
ClinGen TOPMed |
|
|
CA96947282 rs1011949968 |
592 | P>T | No |
ClinGen TOPMed |
|
|
CA356979818 rs1258879061 |
598 | I>T | No |
ClinGen gnomAD |
|
|
rs1316893071 CA356979925 |
600 | L>V | No |
ClinGen gnomAD |
|
|
CA2927261 rs759960643 |
605 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356980172 rs770147187 |
609 | S>C | No |
ClinGen ExAC |
|
|
CA2927263 rs770147187 |
609 | S>F | No |
ClinGen ExAC |
|
|
rs1257093313 CA356980187 |
610 | L>F | No |
ClinGen Ensembl |
|
|
CA2927265 rs368443613 |
611 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2927267 rs751632616 |
612 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs891295290 CA96947291 |
614 | V>I | No |
ClinGen TOPMed |
|
|
CA2927268 rs761963187 |
619 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927269 rs766483954 |
620 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005145253 CA96947297 |
624 | Q>K | No |
ClinGen TOPMed |
|
|
CA356980721 rs1577764995 |
626 | V>M | No |
ClinGen Ensembl |
|
|
CA96947299 rs1008401585 |
627 | D>E | No |
ClinGen Ensembl |
|
|
rs753826603 CA2927270 |
628 | P>A | No |
ClinGen ExAC |
|
|
rs1257180668 CA356980799 |
629 | A>S | No |
ClinGen gnomAD |
|
|
CA356980850 rs1356387664 |
631 | F>L | No |
ClinGen TOPMed |
|
|
rs1285391266 CA356980864 |
632 | L>V | No |
ClinGen gnomAD |
|
|
CA96947304 rs966368519 |
633 | S>N | No |
ClinGen TOPMed |
|
|
rs540653122 CA96947308 |
636 | L>F | No |
ClinGen Ensembl |
|
|
CA2927275 rs777456985 COSM325280 |
637 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 645 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255562230 CA356981206 |
646 | N>T | No |
ClinGen gnomAD |
|
|
rs1042634094 CA96947311 |
650 | C>R | No |
ClinGen TOPMed |
|
|
CA96947314 rs902501038 |
651 | I>V | No |
ClinGen Ensembl |
|
|
CA2927289 rs759572694 |
653 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA96948378 rs969930763 |
656 | R>K | No |
ClinGen Ensembl |
|
|
CA356983065 rs1168723783 |
657 | Q>* | No |
ClinGen TOPMed |
|
|
rs1560362592 CA356983278 |
665 | K>* | No |
ClinGen Ensembl |
|
|
CA2927291 rs147422186 |
667 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478114827 CA356983359 |
667 | S>R | No |
ClinGen TOPMed |
|
|
CA2927292 rs35001804 |
670 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356983427 rs1479803447 |
670 | G>R | No |
ClinGen gnomAD |
|
|
rs1395520813 COSM481357 CA356983507 |
673 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356983760 rs1252405605 |
685 | A>S | No |
ClinGen TOPMed |
|
|
rs1409993964 CA356983826 |
688 | I>V | No |
ClinGen gnomAD |
|
|
rs1347272518 CA356983846 |
689 | F>I | No |
ClinGen TOPMed |
|
|
rs145260919 CA2927296 |
690 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2927297 rs780701587 |
692 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96948397 rs972428384 COSM139520 |
693 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs745340721 CA2927298 |
694 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2927299 rs142941850 |
694 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2927300 rs780590793 |
695 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749674096 CA2927301 |
699 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927302 rs769061715 |
703 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA356984208 rs1560362791 |
706 | I>T | No |
ClinGen Ensembl |
|
|
rs1215205750 CA356984201 |
706 | I>V | No |
ClinGen gnomAD |
|
|
rs748398529 CA2927304 |
709 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1253873859 CA356984312 |
711 | V>F | No |
ClinGen gnomAD |
|
|
CA356986259 rs774169753 |
713 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2927330 rs774169753 |
713 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1294029996 CA356986285 |
715 | K>E | No |
ClinGen gnomAD |
|
|
CA356986311 rs1231617869 |
716 | V>A | No |
ClinGen gnomAD |
|
|
rs761575437 CA2927331 COSM3661136 |
716 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1351210699 CA356986339 |
718 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750071987 CA2927333 |
718 | N>Y | No |
ClinGen ExAC |
|
|
CA356986465 rs1256126156 |
725 | R>S | No |
ClinGen gnomAD |
|
|
rs370176471 CA2927336 |
726 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356986489 rs1183620214 |
727 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 728 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356986499 rs1302946645 |
728 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1470744689 CA356986576 |
732 | N>D | No |
ClinGen gnomAD |
|
|
COSM1694418 rs150979515 CA96949289 |
742 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
COSM1310150 CA2927338 rs373611067 |
742 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1361611831 CA356986892 |
747 | C>R | No |
ClinGen TOPMed |
|
|
CA356986913 rs1208787839 |
748 | L>V | No |
ClinGen gnomAD |
|
|
CA356986934 rs1309490649 |
749 | E>K | No |
ClinGen gnomAD |
|
|
rs76968010 CA96949297 |
750 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 754 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs961507271 | 754 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 759 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 761 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356987278 rs1277625033 |
762 | H>Y | No |
ClinGen gnomAD |
|
|
rs1560366214 CA356987324 |
763 | L>F | No |
ClinGen Ensembl |
|
|
rs267600192 CA96949317 COSM36662 |
774 | P>S | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2927373 rs145462381 |
780 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356988763 rs1577798304 |
785 | V>I | No |
ClinGen Ensembl |
|
|
CA96950060 rs897469977 |
787 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356988932 rs1560368892 |
788 | R>H | No |
ClinGen Ensembl |
|
|
rs748092763 CA2927375 |
789 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367829872 CA356989031 |
791 | Q>* | No |
ClinGen gnomAD |
|
|
rs1398255141 CA356989135 |
794 | R>M | No |
ClinGen TOPMed |
|
|
CA356989179 rs1560368989 |
796 | E>A | No |
ClinGen Ensembl |
|
|
rs370365581 CA96950070 |
803 | A>E | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 805 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773093805 CA2927377 |
805 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356989505 rs1272885195 |
807 | Q>E | No |
ClinGen gnomAD |
|
|
rs1218309642 CA356989568 |
808 | E>A | No |
ClinGen gnomAD |
|
|
CA2927379 rs770669428 |
810 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356989632 rs770669428 |
810 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2927380 rs776139212 |
811 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759187855 CA2927381 |
813 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356989744 rs1191557916 |
814 | K>N | No |
ClinGen gnomAD |
|
|
CA356989768 rs1420332433 |
815 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 816 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356989892 rs1163961316 |
820 | E>K | No |
ClinGen gnomAD |
|
|
CA356989934 rs1347832928 |
821 | V>I | No |
ClinGen gnomAD |
|
|
rs1347832928 CA356989940 |
821 | V>L | No |
ClinGen gnomAD |
|
|
rs1289428970 CA356990187 |
829 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs934380869 CA96950083 |
832 | V>A | No |
ClinGen Ensembl |
|
|
rs1054227606 CA96950088 |
839 | E>D | No |
ClinGen Ensembl |
|
|
CA356990729 rs1343587290 |
840 | E>D | No |
ClinGen TOPMed |
|
|
CA356990697 rs1195885356 |
840 | E>K | No |
ClinGen TOPMed |
|
|
CA2927408 rs774717828 |
846 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs769263823 CA2927407 |
846 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356991997 rs769263823 |
846 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437586671 CA356992024 |
847 | W>* | No |
ClinGen gnomAD |
|
|
rs1175507128 CA356992071 |
850 | M>L | No |
ClinGen gnomAD |
|
|
COSM1056203 CA2927410 rs767788426 |
856 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs750739194 CA2927411 |
856 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2927413 rs766560183 |
857 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA356992278 rs1336280771 |
859 | K>T | No |
ClinGen TOPMed |
|
|
CA356992360 rs757689826 |
863 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA96950767 rs757689826 |
863 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 866 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546749405 COSM42903 CA2927415 |
867 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA356992481 rs1297501249 |
871 | G>E | No |
ClinGen TOPMed |
|
|
rs757166335 CA356992545 |
875 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2927418 rs757166335 |
875 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 878 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111562041 CA96950779 |
879 | T>A | No |
ClinGen Ensembl |
|
|
rs1309491800 CA356992666 |
881 | Q>E | No |
ClinGen gnomAD |
|
|
rs563784485 CA96950784 |
886 | Y>F | No |
ClinGen Ensembl |
|
|
rs769617214 CA2927423 |
889 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 891 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748872795 CA2927424 COSM1540194 |
892 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
No associated diseases with Q9NV70
No regional properties for Q9NV70
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NV70 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of apical plasma membrane | The side (leaflet) of the apical region of the plasma membrane that faces the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| exocyst | A protein complex peripherally associated with the plasma membrane that determines where vesicles dock and fuse. At least eight complex components are conserved between yeast and mammals. |
| Flemming body | A cell part that is the central region of the midbody characterized by a gap in alpha-tubulin staining. It is a dense structure of antiparallel microtubules from the central spindle in the middle of the intercellular bridge. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| Golgi to plasma membrane transport | The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis. |
| membrane fission | A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| positive regulation of protein secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of macroautophagy | Any process that modulates the frequency, rate or extent of macroautophagy. |
| vesicle docking involved in exocytosis | The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis. |
| vesicle tethering involved in exocytosis | The initial, indirect interaction between a secretory vesicle membrane and a site of exocytosis in the plasma membrane. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior to docking and fusion. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAIKHALQR | DIFTPNDERL | LSIVNVCKAG | KKKKNCFLCA | TVTTERPVQV | KVVKVKKSDK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GDFYKRQIAW | ALRDLAVVDA | KDAIKENPEF | DLHFEKIYKW | VASSTAEKNA | FISCIWKLNQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RYLRKKIDFV | NVSSQLLEES | VPSGENQSVT | GGDEEVVDEY | QELNAREEQD | IEIMMEGCEY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AISNAEAFAE | KLSRELQVLD | GANIQSIMAS | EKQVNILMKL | LDEALKEVDQ | IELKLSSYEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MLQSVKEQMD | QISESNHLIH | LSNTNNVKLL | SEIEFLVNHM | DLAKGHIKAL | QEGDLASSRG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IEACTNAADA | LLQCMNVALR | PGHDLLLAVK | QQQQRFSDLR | ELFARRLASH | LNNVFVQQGH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DQSSTLAQHS | VELTLPNHHP | FHRDLLRYAK | LMEWLKSTDY | GKYEGLTKNY | MDYLSRLYER |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EIKDFFEVAK | IKMTGTTKES | KKFATLPRKE | SAVKQETESL | HGSSGKLTGS | TSSLNKLSVQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SSGNRRSQSS | SLLDMGNMSA | SDLDVADRTK | FDKIFEQVLS | ELEPLCLAEQ | DFISKFFKLQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QHQSMPGTMA | EAEDLDGGTL | SRQHNCGTPL | PVSSEKDMIR | QMMIKIFRCI | EPELNNLIAL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GDKIDSFNSL | YMLVKMSHHV | WTAQNVDPAS | FLSTTLGNVL | VTVKRNFDKC | ISNQIRQMEE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VKISKKSKVG | ILPFVAEFEE | FAGLAESIFK | NAERRGDLDK | AYTKLIRGVF | VNVEKVANES |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QKTPRDVVMM | ENFHHIFATL | SRLKISCLEA | EKKEAKQKYT | DHLQSYVIYS | LGQPLEKLNH |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FFEGVEARVA | QGIREEEVSY | QLAFNKQELR | KVIKEYPGKE | VKKGLDNLYK | KVDKHLCEEE |
| 850 | 860 | 870 | 880 | 890 | |
| NLLQVVWHSM | QDEFIRQYKH | FEGLIARCYP | GSGVTMEFTI | QDILDYCSSI | AQSH |