Q14416
Gene name |
GRM2 |
Protein name |
Metabotropic glutamate receptor 2 |
Names |
mGluR2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2912 |
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
26 structures for Q14416
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4XAQ | X-ray | 221 A | A/B | 2-493 | PDB |
| 4XAS | X-ray | 235 A | A/B | 2-493 | PDB |
| 5CNI | X-ray | 269 A | A/B | 2-493 | PDB |
| 5CNJ | X-ray | 265 A | A/B | 2-493 | PDB |
| 5KZN | X-ray | 280 A | A | 1-562 | PDB |
| 5KZQ | X-ray | 280 A | A | 1-562 | PDB |
| 7E9G | EM | 350 A | R/S | 19-825 | PDB |
| 7EPA | EM | 360 A | A/B | 19-825 | PDB |
| 7EPB | EM | 310 A | A/B | 19-825 | PDB |
| 7EPD | EM | 390 A | A | 19-825 | PDB |
| 7MTQ | EM | 365 A | A/B | 18-872 | PDB |
| 7MTR | EM | 330 A | A/B | 18-872 | PDB |
| 7MTS | EM | 320 A | A/B | 18-872 | PDB |
| 8JCU | EM | 280 A | 2 | 19-872 | PDB |
| 8JCV | EM | 340 A | 2 | 19-872 | PDB |
| 8JCW | EM | 300 A | 2 | 19-872 | PDB |
| 8JCX | EM | 300 A | 2 | 19-872 | PDB |
| 8JCY | EM | 290 A | 2 | 19-872 | PDB |
| 8JCZ | EM | 300 A | 2 | 19-872 | PDB |
| 8JD0 | EM | 330 A | 2 | 19-872 | PDB |
| 8JD1 | EM | 370 A | 2 | 19-872 | PDB |
| 8JD2 | EM | 280 A | 2 | 19-872 | PDB |
| 8JD3 | EM | 330 A | 2 | 19-872 | PDB |
| 8JD4 | EM | 290 A | 2 | 19-872 | PDB |
| 8JD5 | EM | 360 A | 2 | 19-872 | PDB |
| AF-Q14416-F1 | Predicted | AlphaFoldDB |
656 variants for Q14416
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2424870 rs377743299 |
2 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249903412 CA353047725 |
5 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2424871 rs778180799 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353047793 rs1460463489 |
9 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 9 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748943012 CA2424875 |
10 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75461739 CA2424876 |
12 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297648430 CA353047846 |
14 | W>* | No |
ClinGen TOPMed |
|
|
rs962481777 CA74700756 |
14 | W>C | No |
ClinGen gnomAD |
|
|
CA353047865 rs1365229369 |
15 | G>D | No |
ClinGen gnomAD |
|
|
COSM1209031 rs778755860 CA2424877 |
16 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2424878 rs747960529 |
17 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2424879 rs200663159 |
18 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2424880 rs773073246 |
19 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs973816668 CA74700823 |
23 | K>R | No |
ClinGen Ensembl |
|
|
rs760789831 CA353047965 |
25 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760789831 CA2424882 |
25 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771168656 CA2424883 |
27 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424884 rs542779542 |
29 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200623206 CA2424885 |
33 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2424888 rs763273102 |
41 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353048073 rs1559691116 |
42 | Q>K | No |
ClinGen Ensembl |
|
|
CA353048082 rs1441437444 |
43 | K>E | No |
ClinGen TOPMed |
|
|
CA353048090 rs1380431669 |
43 | K>N | No |
ClinGen TOPMed |
|
|
rs764610362 CA2424890 |
45 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424889 rs764610362 |
45 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353048125 rs1343958363 |
46 | P>L | No |
ClinGen gnomAD |
|
|
CA353048127 rs1275843222 |
47 | A>P | No |
ClinGen gnomAD |
|
|
CA74700891 rs886572875 |
47 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA74700897 rs950828398 |
48 | E>Q | No |
ClinGen gnomAD |
|
|
CA353048201 rs1362945908 |
52 | P>S | No |
ClinGen gnomAD |
|
|
CA353048230 rs1222041644 |
54 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770111317 CA2424891 |
56 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs765886757 CA2424893 |
56 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353048269 rs1282161649 |
57 | R>C | No |
ClinGen gnomAD |
|
|
rs1577551017 CA353048281 |
58 | G>S | No |
ClinGen Ensembl |
|
|
CA2424897 rs778471244 |
59 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246035621 CA353048318 |
60 | Q>H | No |
ClinGen gnomAD |
|
|
rs1479358728 CA353048324 |
61 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1280835404 CA353048329 |
61 | R>H | No |
ClinGen Ensembl |
|
|
rs200502357 CA2424898 |
71 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2424899 rs746951130 |
73 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1415280732 CA353048475 |
74 | R>C | No |
ClinGen gnomAD |
|
|
rs776842043 CA2424901 |
76 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424903 rs770031669 |
77 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775595117 CA2424904 |
78 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424906 rs764369500 |
79 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2424909 rs768079452 |
80 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2424908 rs762293607 |
80 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs753314932 CA2424910 |
81 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1489834872 CA353048555 |
82 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754495843 CA2424911 |
83 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2424912 rs764896896 |
84 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA353048595 rs1157742177 |
85 | G>A | No |
ClinGen TOPMed |
|
|
rs916562998 CA74701008 |
86 | A>S | No |
ClinGen gnomAD |
|
|
rs916562998 CA353048597 |
86 | A>T | No |
ClinGen gnomAD |
|
|
CA2424914 rs758170042 |
88 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424916 rs773302322 |
90 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424917 rs370930855 |
91 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196233477 CA353048742 |
97 | H>D | No |
ClinGen TOPMed |
|
|
rs781340078 CA2424918 |
97 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2424919 rs745889223 |
98 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353048776 rs1559691461 |
100 | E>G | No |
ClinGen Ensembl |
|
|
CA353048784 rs1214262858 |
101 | Q>K | No |
ClinGen TOPMed |
|
|
rs1448919180 CA353048788 |
101 | Q>R | No |
ClinGen gnomAD |
|
|
CA74701032 rs763448953 |
105 | F>L | No |
ClinGen Ensembl |
|
|
CA353048860 rs1486056711 |
106 | V>G | No |
ClinGen gnomAD |
|
|
rs769770570 CA2424920 |
106 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs200055532 CA2424921 |
108 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749496396 CA2424923 |
112 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353048977 rs1559691526 |
113 | G>A | No |
ClinGen Ensembl |
|
|
CA353048970 rs1257918617 |
113 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768973589 CA2424924 |
115 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2424925 rs774667809 |
117 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA353049084 rs1401547328 |
118 | R>H | No |
ClinGen TOPMed |
|
|
rs762232162 CA2424926 |
119 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391294099 CA353049169 |
123 | D>N | No |
ClinGen gnomAD |
|
|
rs759017134 CA2424929 |
124 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA74701096 rs751920600 |
125 | S>C | No |
ClinGen Ensembl |
|
|
CA353049242 rs1451535340 |
126 | Y>F | No |
ClinGen TOPMed |
|
|
CA74701105 rs902360993 |
126 | Y>H | No |
ClinGen Ensembl |
|
|
CA2424930 rs764682062 |
127 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187968065 CA353049249 |
127 | A>T | No |
ClinGen gnomAD |
|
|
CA2424931 COSM1566708 rs764682062 |
127 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762488020 CA2424932 |
129 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs145490430 CA2424933 |
129 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353049319 rs1437336836 |
130 | G>R | No |
ClinGen gnomAD |
|
|
CA2424934 rs751391242 |
130 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370256711 CA2424935 |
132 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74701129 rs113937841 |
133 | P>L | No |
ClinGen gnomAD |
|
|
CA2424936 rs781211820 |
136 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750361568 CA2424937 |
137 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs142637496 COSM308397 CA2424938 |
138 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1421896249 CA353049488 |
138 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA74701160 rs1007206033 |
140 | I>T | No |
ClinGen TOPMed |
|
|
rs138359683 CA2424940 |
142 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2424941 rs138359683 |
142 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149255850 CA2424942 |
144 | Y>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482214769 CA353049618 |
146 | D>A | No |
ClinGen Ensembl |
|
|
CA74701197 rs376659355 |
146 | D>Y | No |
ClinGen Ensembl |
|
|
CA353049689 rs1428377888 |
150 | Q>R | No |
ClinGen gnomAD |
|
|
CA353050729 rs1315877793 |
153 | N>S | No |
ClinGen TOPMed |
|
|
rs1404174007 CA353050739 |
154 | L>V | No |
ClinGen gnomAD |
|
|
CA74703675 rs561582268 |
155 | L>W | No |
ClinGen TOPMed |
|
|
rs374419415 CA74703688 |
162 | Q>H | No |
ClinGen ESP |
|
|
CA74703692 rs940254088 |
165 | Y>N | No |
ClinGen gnomAD |
|
|
CA74703698 rs917235012 |
166 | A>P | No |
ClinGen Ensembl |
|
|
rs1168857150 CA353050982 |
169 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 170 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474852209 CA353051023 |
172 | L>M | No |
ClinGen TOPMed |
|
|
CA2424965 rs777212616 |
177 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs748682242 CA2424966 |
177 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353051137 rs1250048007 |
180 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 183 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2424969 rs761538024 |
183 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485116568 CA353051179 COSM212874 |
183 | R>H | Variant assessed as Somatic; impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 184 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353051229 rs1209318778 |
187 | P>L | No |
ClinGen TOPMed |
|
|
CA353051280 rs1423851237 |
191 | Q>* | No |
ClinGen gnomAD |
|
|
CA353051299 rs1161472483 |
192 | A>G | No |
ClinGen gnomAD |
|
|
CA353051316 rs1372121874 |
193 | K>N | No |
ClinGen gnomAD |
|
|
CA2424970 COSM1046739 rs767321005 |
199 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1297290414 CA353051398 |
200 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1253801 rs372298669 CA2424971 |
200 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2424973 rs766170364 |
201 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2424972 rs375302090 |
201 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577557442 CA353051475 |
205 | T>P | No |
ClinGen Ensembl |
|
|
CA2424975 rs768195509 |
206 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755009271 CA2424976 |
206 | Y>C | No |
ClinGen ExAC |
|
| rs1559693974 | 206 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2424977 rs765321622 |
208 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs367909421 CA2424978 |
211 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2424980 rs778120250 |
213 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747318511 CA2424981 |
214 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA353051575 rs1205660271 |
214 | G>S | No |
ClinGen gnomAD |
|
|
CA353051586 rs1177196948 |
215 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143196180 CA2424984 |
218 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1371898785 CA353051627 |
219 | T>K | No |
ClinGen TOPMed |
|
|
CA353051655 rs1393957758 |
223 | A>G | No |
ClinGen TOPMed |
|
|
rs770473805 CA2424986 |
229 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770473805 CA2424985 |
229 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353051704 rs1410388515 |
231 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1410388515 CA353051703 |
231 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1566707 rs147501226 CA2424989 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs147501226 CA2424988 |
231 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA353051707 rs1186452114 |
232 | N>D | No |
ClinGen TOPMed |
|
|
rs1252642246 CA353051719 |
233 | I>S | No |
ClinGen TOPMed |
|
|
CA353051715 rs1473835640 |
233 | I>V | No |
ClinGen TOPMed |
|
|
rs760319854 CA2424990 |
234 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766226233 CA2424991 |
237 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776381737 CA2424992 |
238 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765196767 CA2424994 |
242 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764159304 CA2424997 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2424998 rs751842471 |
243 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757517400 CA2424999 |
244 | A>T | No |
ClinGen ExAC |
|
|
rs1280056924 CA353051791 |
245 | M>I | No |
ClinGen TOPMed |
|
|
CA353051789 rs1263961713 |
245 | M>T | No |
ClinGen gnomAD |
|
|
rs781600336 CA2425000 |
245 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs746276808 CA2425001 |
247 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746276808 CA2425002 |
247 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755306821 CA2425003 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755306821 CA74703931 |
247 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425005 rs117368814 |
248 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2425006 RCV000913640 rs141459351 |
248 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA353051835 rs1176762023 |
252 | G>V | No |
ClinGen gnomAD |
|
|
CA74703948 rs62259684 |
254 | V>M | No |
ClinGen Ensembl |
|
|
rs1467829905 CA353051848 |
255 | R>* | No |
ClinGen gnomAD |
|
|
COSM1485355 rs759390511 CA2425010 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425012 rs775416347 |
256 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs145752808 CA353051852 |
256 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145752808 CA2425011 |
256 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353051860 rs1284240364 |
258 | L>M | No |
ClinGen gnomAD |
|
|
rs752794186 CA74703976 |
259 | Q>L | No |
ClinGen Ensembl |
|
|
CA353051881 rs1221775826 |
261 | P>A | No |
ClinGen gnomAD |
|
|
rs757102865 CA74703980 |
263 | A>G | No |
ClinGen Ensembl |
|
|
rs1447545792 CA353051902 |
264 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767700581 CA2425017 |
265 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA353051922 rs1199867200 |
268 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1479216160 CA353051943 |
271 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353051944 rs1160790431 |
271 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 275 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754426900 CA2425021 |
275 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425023 rs777314733 |
276 | R>Q | Variant assessed as Somatic; 9.307e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368526510 CA2425022 |
276 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407202988 CA353051977 |
277 | E>K | No |
ClinGen gnomAD |
|
|
rs1347949756 CA353051996 |
280 | A>P | No |
ClinGen TOPMed |
|
|
rs1347949756 CA353051997 |
280 | A>S | No |
ClinGen TOPMed |
|
|
rs749310386 CA2425024 |
281 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435625253 CA353052025 |
284 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1345121780 CA353052026 |
284 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1435625253 CA353052023 |
284 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1403293184 CA353052039 |
286 | N>S | No |
ClinGen gnomAD |
|
|
rs1437774871 CA353052043 |
287 | A>T | No |
ClinGen TOPMed |
|
|
CA74704011 rs973355460 |
287 | A>V | No |
ClinGen Ensembl |
|
|
rs1281468627 CA353052053 |
288 | S>I | No |
ClinGen gnomAD |
|
|
CA353052060 rs1223290687 |
289 | F>S | No |
ClinGen gnomAD |
|
|
rs1223290687 CA353052059 |
289 | F>Y | No |
ClinGen gnomAD |
|
|
CA353052065 rs1282141958 |
290 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs867491732 CA74704018 |
290 | T>S | No |
ClinGen Ensembl |
|
|
CA74704023 rs950023743 |
291 | W>L | No |
ClinGen gnomAD |
|
|
rs780875749 CA2425026 |
294 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs780875749 CA74704032 |
294 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769611989 CA2425028 |
296 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233065208 CA353052203 |
301 | E>D | No |
ClinGen gnomAD |
|
|
rs762928999 CA2425030 |
302 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA353052254 rs1164644562 |
306 | G>D | No |
ClinGen gnomAD |
|
|
rs1427030701 CA353052252 |
306 | G>S | No |
ClinGen gnomAD |
|
|
CA353052263 rs1173171943 |
307 | S>N | No |
ClinGen TOPMed |
|
|
rs910071496 CA74704054 |
307 | S>R | No |
ClinGen TOPMed |
|
|
rs1577558304 CA353052270 |
307 | S>R | No |
ClinGen Ensembl |
|
|
rs570332974 CA2425033 |
308 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2425032 rs774486355 |
308 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353052277 rs774486355 |
308 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143181148 CA2425034 |
315 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353052372 rs1336565927 |
318 | E>K | No |
ClinGen gnomAD |
|
|
rs750679418 CA2425035 |
320 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353052398 rs1577558364 |
320 | A>S | No |
ClinGen Ensembl |
|
|
rs761080290 CA2425036 |
321 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs761080290 CA353052407 |
321 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1215023338 CA353052416 |
322 | Y>D | No |
ClinGen TOPMed |
|
|
rs1290912697 CA353052437 |
324 | I>V | No |
ClinGen gnomAD |
|
|
CA353052455 rs1445144291 |
325 | S>R | No |
ClinGen TOPMed |
|
|
CA2425039 rs755478612 |
325 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197327319 CA353052491 |
328 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs547069813 CA2425040 |
329 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2425041 rs559122958 |
332 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570829609 CA2425043 |
333 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1037147478 CA74704098 |
333 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353052538 rs1234465899 |
333 | S>R | No |
ClinGen TOPMed |
|
|
rs1385154627 CA353052577 |
337 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs376518304 CA2425045 |
339 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425047 rs755817901 |
341 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534825087 CA2425046 |
341 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425048 rs779795830 |
343 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA353052623 rs1394900152 |
344 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353052633 rs1454981492 |
345 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1253802 CA2425049 rs749107956 |
346 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1424297 CA2425050 rs200432452 |
346 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2425052 rs748192650 |
354 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772309023 CA2425053 |
354 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773518679 CA2425054 |
356 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148285622 CA353052725 |
358 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2425056 rs148285622 |
358 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2425055 rs760955228 |
358 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2425057 rs777046936 |
360 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1461431300 CA353052736 |
360 | R>Q | No |
ClinGen gnomAD |
|
|
rs143495329 CA353052755 |
363 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143495329 CA2425059 |
363 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2425060 rs753145566 |
363 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs376625340 CA2425061 |
365 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA74704226 rs556933149 |
365 | H>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
rs755762716 CA2425064 |
366 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755762716 CA353052791 |
366 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs749977509 CA2425063 |
366 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1408573308 CA353052798 |
367 | L>P | No |
ClinGen gnomAD |
|
|
CA353052793 rs1166418690 |
367 | L>V | No |
ClinGen gnomAD |
|
|
rs200117897 CA2425066 |
368 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2425065 rs369626642 |
368 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425067 rs775879013 |
371 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778870495 CA353052868 |
373 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425069 rs748058333 |
374 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs748058333 CA2425070 |
374 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs773393762 CA2425071 |
379 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74704321 rs1017104434 |
380 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs144039519 CA74704346 |
382 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs961808916 CA74704349 |
383 | N>K | No |
ClinGen Ensembl |
|
|
CA2425072 rs747151575 |
385 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs144377567 CA353053046 |
386 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776728919 CA2425074 |
387 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA353053069 rs1260658344 |
388 | M>T | No |
ClinGen gnomAD |
|
|
rs1024952885 CA353053079 |
389 | A>S | No |
ClinGen gnomAD |
|
|
rs1024952885 CA74704360 |
389 | A>T | No |
ClinGen gnomAD |
|
|
rs376573547 CA2425075 |
389 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425076 rs765548083 |
391 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2425077 rs775975235 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431741087 CA353053117 |
392 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415631335 CA353053172 |
395 | M>I | No |
ClinGen TOPMed |
|
|
CA353053161 rs1175837979 |
395 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2425078 rs200511797 |
397 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455392394 CA353053195 |
397 | R>H | No |
ClinGen gnomAD |
|
|
CA2425082 rs765950059 |
402 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1577559058 CA353053313 |
404 | T>P | No |
ClinGen Ensembl |
|
|
rs1013970344 CA74704443 |
405 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353053333 rs142465014 |
405 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425086 rs142465014 |
405 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013970344 CA353053330 |
405 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1559694931 CA543055075 |
407 | C>* | No |
ClinGen Ensembl |
|
|
CA353053399 rs758404626 CA353053397 |
408 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2425088 rs777912992 |
409 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2425089 rs747024908 |
409 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425093 rs746059445 |
411 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746059445 CA2425092 |
411 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425091 rs781432416 |
411 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74704503 rs910162089 |
413 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2425095 rs763369132 |
415 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425096 rs540373636 |
416 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353053540 rs1366011485 |
416 | R>H | No |
ClinGen gnomAD |
|
|
CA2425097 COSM1046744 rs561666712 |
417 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs116567227 CA2425098 |
417 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200731148 CA2425100 |
418 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74704577 rs1051160429 |
419 | Y>C | No |
ClinGen TOPMed |
|
|
CA74704579 rs1040311920 |
420 | K>M | No |
ClinGen Ensembl |
|
|
CA353053627 rs1305593820 |
421 | D>G | No |
ClinGen gnomAD |
|
|
rs759078547 CA2425101 |
422 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765006135 CA2425102 |
423 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA353053670 rs901784927 |
425 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs901784927 CA74704591 |
425 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA353053687 rs1222210595 |
426 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353053703 rs1263915391 |
427 | K>R | No |
ClinGen gnomAD |
|
|
CA2425124 rs751444280 |
430 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2425126 rs267599885 |
433 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs750416610 CA2425127 |
433 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353055027 rs1263793256 |
438 | H>Q | No |
ClinGen gnomAD |
|
|
CA2425129 rs756224286 |
438 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425130 RCV000897454 rs143654927 |
439 | N>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs747340682 CA74705605 |
442 | R>C | No |
ClinGen Ensembl |
|
|
CA353055072 rs1207998527 |
442 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207998527 CA353055073 |
442 | R>L | No |
ClinGen gnomAD |
|
|
CA2425131 rs749536463 |
445 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425132 rs369993012 |
445 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867493876 CA74705608 |
448 | D>N | No |
ClinGen Ensembl |
|
|
rs769103089 CA2425133 |
452 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs748577145 CA2425134 |
452 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773781389 CA2425136 |
458 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs745305728 CA2425137 |
460 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769372609 CA2425138 |
460 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769372609 CA74705639 |
460 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769372609 CA353055357 |
460 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353055422 rs1347446235 |
463 | S>N | No |
ClinGen gnomAD |
|
|
CA2425139 rs200690482 |
465 | R>C | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs762669966 CA2425140 |
465 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201541353 CA2425141 |
467 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425142 rs774276991 |
467 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2425143 rs761686344 |
470 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750406225 CA2425145 |
475 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1471199029 CA353055694 |
477 | G>A | No |
ClinGen TOPMed |
|
|
rs766426808 CA2425147 |
480 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753958370 CA2425148 |
482 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1490772324 CA353055939 |
484 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178203294 CA353056146 |
489 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs971114872 CA74705745 |
490 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 491 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236060259 CA353056229 |
492 | A>T | No |
ClinGen TOPMed |
|
|
rs1047701514 CA74705787 |
493 | G>A | No |
ClinGen Ensembl |
|
|
rs577518979 CA353056297 |
493 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2425151 rs577518979 |
493 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577518979 CA2425150 |
493 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2425156 rs199514469 |
497 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2425155 rs199514469 |
497 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2425157 rs146589478 |
499 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2425158 rs61729077 |
499 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774155600 CA2425160 |
502 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239395806 CA353056782 |
506 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353056834 rs1442086062 |
508 | E>V | No |
ClinGen TOPMed |
|
|
rs1349881504 CA353056913 |
510 | K>E | No |
ClinGen TOPMed |
|
|
rs1361409511 CA353056926 |
511 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 512 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353057059 rs1449445350 |
514 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353057056 rs1449445350 |
514 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753899005 CA353057109 |
516 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753899005 CA2425166 |
516 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214436734 CA353057279 |
521 | L>F | No |
ClinGen Ensembl |
|
|
CA2425167 rs202090485 |
524 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA74705869 rs202090485 |
524 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 527 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2425169 TCGA novel rs752990956 |
528 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed NCI-TCGA |
|
rs1164543830 CA353057478 |
529 | E>G | No |
ClinGen gnomAD |
|
|
CA353057451 rs1448260111 |
529 | E>K | No |
ClinGen TOPMed |
|
|
CA2425170 rs758637715 |
530 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403765782 CA353057510 |
531 | R>* | No |
ClinGen gnomAD |
|
|
rs368722269 CA2425171 |
531 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425174 rs781768671 |
534 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425175 rs374519341 |
535 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768317110 CA2425176 |
537 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA353057679 rs1283338456 |
537 | C>Y | No |
ClinGen gnomAD |
|
|
rs201981098 CA2425179 |
538 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201981098 CA2425178 |
538 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA74705957 rs943731376 |
541 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2425181 rs760442768 |
542 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs867459164 CA74705975 |
543 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 549 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353058091 rs1292084801 |
549 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353058248 rs1414848074 |
554 | F>L | No |
ClinGen TOPMed |
|
|
CA74706020 rs892607705 |
555 | E>G | No |
ClinGen TOPMed |
|
|
CA2425184 rs759568400 |
555 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA74706028 rs1009674616 |
556 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 557 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765319491 CA2425185 |
560 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3696173 rs752765574 CA2425186 |
562 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2425187 rs763200463 |
562 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353058563 rs1247673315 |
564 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375725804 CA2425189 |
565 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353058808 rs1270471815 |
571 | P>S | No |
ClinGen gnomAD |
|
|
rs1216260604 CA353058867 |
572 | V>A | No |
ClinGen gnomAD |
|
|
rs781752079 CA2425191 |
574 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2425193 rs756734768 |
575 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 575 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74706088 rs1033638729 |
578 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA74706096 rs915020572 |
579 | A>T | No |
ClinGen TOPMed |
|
|
CA353059171 rs1477593946 |
582 | T>A | No |
ClinGen gnomAD |
|
|
rs771740410 CA2425196 |
583 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA353059273 rs1559696661 |
584 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 585 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353059338 rs1470328425 |
587 | G>A | No |
ClinGen gnomAD |
|
|
rs368726639 CA74706113 |
588 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368726639 CA2425198 |
588 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425197 rs777303416 |
588 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 589 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353059415 rs1210284323 |
590 | V>M | No |
ClinGen gnomAD |
|
|
rs370866853 CA2425200 |
591 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425199 rs772536931 |
591 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397802948 CA353059466 |
592 | H>R | No |
ClinGen gnomAD |
|
|
rs745779468 CA2425202 |
593 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA353059496 rs1559696701 |
593 | N>S | No |
ClinGen Ensembl |
|
|
CA353059489 rs1559696701 |
593 | N>T | No |
ClinGen Ensembl |
|
|
rs1345668335 CA353059587 |
595 | T>A | No |
ClinGen gnomAD |
|
|
rs775633409 CA2425204 |
595 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1255931374 CA353059617 |
596 | P>T | No |
ClinGen gnomAD |
|
|
rs1207289934 CA353059727 |
599 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764313817 CA2425206 |
601 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2425208 rs762223150 |
603 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2425207 rs774472043 |
603 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA353059996 rs1433907291 |
609 | L>V | No |
ClinGen gnomAD |
|
|
CA353060007 rs1559696788 |
610 | L>P | No |
ClinGen Ensembl |
|
|
CA353060011 rs1375864960 |
611 | G>S | No |
ClinGen gnomAD |
|
|
rs756685870 CA2425211 |
612 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766855976 CA2425212 |
613 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1051984893 CA353060210 |
619 | M>L | No |
ClinGen gnomAD |
|
|
CA74706258 rs1051984893 |
619 | M>V | No |
ClinGen gnomAD |
|
|
rs1304643908 CA353060237 |
620 | T>N | No |
ClinGen gnomAD |
|
|
CA2425214 rs757850729 |
622 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA353060298 rs1298502170 |
622 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 622 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 623 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777442467 CA2425215 |
625 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2425216 rs746682496 |
629 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1294240913 CA353060520 |
634 | L>S | No |
ClinGen gnomAD |
|
|
CA2425219 rs780930849 |
635 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353060530 rs1488891900 |
635 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745726555 CA2425220 COSM1046747 |
636 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs150657954 CA2425221 |
636 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425222 rs775297052 |
639 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1379599393 CA353060624 |
640 | G>A | No |
ClinGen gnomAD |
|
|
CA2425223 rs199941778 |
642 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 644 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2425224 rs768645189 |
645 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774622434 CA353060735 |
646 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774622434 CA2425225 |
646 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425226 rs762096466 |
648 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2425228 rs773700618 |
649 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1376741910 CA353060864 |
652 | T>I | No |
ClinGen gnomAD |
|
|
CA353060879 rs1238436104 |
653 | K>T | No |
ClinGen gnomAD |
|
|
CA353060888 rs1577563349 |
654 | T>P | No |
ClinGen Ensembl |
|
|
rs1322578540 CA353060908 |
655 | N>S | No |
ClinGen gnomAD |
|
|
CA74706397 rs375087136 |
656 | R>C | No |
ClinGen ESP |
|
|
rs767625940 COSM1424300 CA74706405 |
656 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767625940 CA74706419 |
656 | R>L | No |
ClinGen gnomAD |
|
|
CA353060936 rs1481691100 |
658 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 658 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754332134 CA2425231 |
659 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM731158 CA353060954 rs1237497654 |
659 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs754332134 CA353060948 |
659 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs763484854 CA2425233 |
660 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs756895347 CA2425235 |
662 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370399429 CA2425237 |
663 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463942896 CA353061034 |
664 | A>S | No |
ClinGen TOPMed |
|
|
CA2425241 rs768679400 |
665 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749163251 CA2425240 |
665 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425243 rs748298088 |
666 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1411242991 CA353061085 |
666 | E>G | No |
ClinGen TOPMed |
|
|
rs779131411 CA2425242 |
666 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs906652049 CA74706510 |
667 | G>S | No |
ClinGen TOPMed |
|
|
COSM1424301 rs1310863744 CA353061111 |
668 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs773571589 CA2425245 |
669 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761059008 CA2425246 |
669 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA353061145 rs1266544666 |
670 | R>Q | No |
ClinGen TOPMed |
|
|
rs371492960 CA2425247 |
670 | R>W | Variant assessed as Somatic; 0.0001875 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777098269 CA2425248 COSM1734802 |
672 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA74706558 rs1033532418 |
672 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA74706589 rs959264006 |
673 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 673 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759925615 CA2425249 |
676 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2425250 rs765796581 |
677 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353061276 rs1179847823 |
679 | Q>* | No |
ClinGen gnomAD |
|
|
CA2425251 rs751052753 |
680 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74706597 rs557596073 |
681 | A>T | No |
ClinGen Ensembl |
|
|
CA353061316 rs1477920982 |
681 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 683 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61729081 CA2425252 |
685 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470653636 CA353061381 |
686 | L>F | No |
ClinGen gnomAD |
|
|
rs767120248 CA2425253 |
687 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA74706644 rs534111871 |
687 | I>V | No |
ClinGen 1000Genomes |
|
|
rs750102423 CA2425254 |
688 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA74706687 rs138903693 |
689 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs878951004 CA74706693 |
690 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 691 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201258235 RCV000896986 CA2425256 |
692 | L>F | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2425257 rs373228394 |
694 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376437410 CA2425258 |
695 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425260 rs567499268 |
696 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs772307294 CA2425261 |
696 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778091926 CA353061647 |
697 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778091926 CA2425262 |
697 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353061687 rs1577563946 |
699 | V>G | No |
ClinGen Ensembl |
|
|
CA353061713 rs1577563956 |
700 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 700 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910832522 CA74706775 |
701 | E>V | No |
ClinGen Ensembl |
|
|
rs747177404 CA2425263 |
703 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2425265 rs776851906 |
705 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs369362488 CA2425266 |
706 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74706793 rs920589578 |
707 | K>N | No |
ClinGen gnomAD |
|
|
CA353061846 rs1174545644 |
708 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362884990 CA353061874 |
709 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2425267 rs770226519 |
711 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761266932 COSM191109 CA2425269 |
712 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2425271 rs144237630 |
713 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376746549 CA2425270 |
713 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920948177 CA74706823 |
714 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA74706822 rs140096454 |
714 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2425272 rs760240410 |
715 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2425274 rs372842577 |
716 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372842577 CA2425273 |
716 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354237637 CA353062006 |
716 | V>L | No |
ClinGen gnomAD |
|
|
CA2425275 rs754809245 |
717 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs752703391 CA2425277 |
718 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369319594 CA353062060 |
719 | L>P | No |
ClinGen gnomAD |
|
|
CA2425278 rs758458084 |
720 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353062081 rs1190044104 |
720 | R>H | No |
ClinGen gnomAD |
|
|
CA353062084 rs1190044104 |
720 | R>L | No |
ClinGen gnomAD |
|
|
rs777964450 CA2425279 |
724 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1440714610 CA353062160 |
724 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA353062152 rs777964450 |
724 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs151188856 CA74706940 |
725 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA74706942 rs929411504 |
725 | D>V | No |
ClinGen Ensembl |
|
|
rs376993642 CA74706950 |
726 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 727 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353062254 rs1407249080 |
728 | M>V | No |
ClinGen gnomAD |
|
|
CA2425282 rs757404681 |
730 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs200057736 CA74706975 |
731 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1239194699 CA353062407 |
732 | L>P | No |
ClinGen gnomAD |
|
|
CA2425285 rs770169519 |
734 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA2425286 rs775884779 |
735 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199921366 CA353062544 |
736 | V>G | No |
ClinGen gnomAD |
|
|
rs769218538 CA2425288 |
736 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA353062582 rs1240580406 |
737 | L>F | No |
ClinGen gnomAD |
|
|
rs1487990203 CA353062647 |
739 | I>L | No |
ClinGen TOPMed |
|
|
COSM1209030 rs145802255 CA2425290 |
740 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1047004122 CA74707065 |
740 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353062747 rs1403679566 |
743 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 746 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353062880 rs1400968257 |
748 | K>N | No |
ClinGen gnomAD |
|
|
rs765098461 CA2425294 |
749 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295999820 CA353062897 |
749 | T>I | No |
ClinGen TOPMed |
|
|
COSM259045 CA353062899 rs1329180037 |
750 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs371451244 CA2425295 |
750 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371451244 CA2425296 |
750 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425297 rs764150215 |
751 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1577564582 CA353063028 |
754 | E>A | No |
ClinGen Ensembl |
|
|
rs1353742972 CA353063032 |
754 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 755 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 755 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353063039 rs1219972779 |
755 | N>Y | No |
ClinGen gnomAD |
|
|
rs746082458 CA2425301 |
758 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA353063171 rs1171946408 |
758 | E>K | No |
ClinGen TOPMed |
|
|
CA353063319 rs1444553813 |
762 | I>T | No |
ClinGen gnomAD |
|
|
rs1047717477 CA74707134 |
762 | I>V | No |
ClinGen TOPMed |
|
|
CA353063339 rs1421487734 |
763 | G>V | No |
ClinGen TOPMed |
|
|
rs1189895243 CA353063375 |
764 | F>C | No |
ClinGen TOPMed |
|
|
rs1237148165 CA353063389 |
765 | T>P | No |
ClinGen gnomAD |
|
|
rs1559697699 CA353063511 |
769 | T>I | No |
ClinGen Ensembl |
|
|
CA74707172 rs1021963271 |
771 | I>V | No |
ClinGen Ensembl |
|
|
rs1424468056 CA353063594 |
772 | I>L | No |
ClinGen gnomAD |
|
|
rs769097741 CA2425305 |
775 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2425306 rs774929914 |
775 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746464200 CA2425307 |
776 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA74707245 rs999298194 |
781 | Y>C | No |
ClinGen gnomAD |
|
|
rs765045190 CA2425311 |
783 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs775411773 CA2425312 |
784 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2425314 rs540567050 |
785 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751539636 CA2425315 |
787 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs201347255 CA2425317 |
788 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425316 rs757192965 |
788 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA353065419 rs1198164157 |
793 | T>I | No |
ClinGen gnomAD |
|
|
CA353065429 rs1393184263 |
794 | M>K | No |
ClinGen gnomAD |
|
|
CA353065431 rs1393184263 |
794 | M>T | No |
ClinGen gnomAD |
|
|
CA2425336 rs138493587 |
796 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1424303 rs200496822 CA2425335 |
796 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2425337 rs760751956 |
800 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1294887398 CA353065583 |
802 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353065630 rs1577566849 |
804 | V>A | No |
ClinGen Ensembl |
|
|
rs1323492175 CA353065621 |
804 | V>L | No |
ClinGen gnomAD |
|
|
CA353065627 rs1323492175 |
804 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1369338396 CA353065679 |
806 | L>F | No |
ClinGen gnomAD |
|
|
CA353065694 rs1242805088 |
807 | G>A | No |
ClinGen gnomAD |
|
|
rs1310390431 CA353065725 |
809 | L>R | No |
ClinGen gnomAD |
|
|
CA2425340 rs149853208 |
811 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353065914 rs1220543480 |
818 | L>F | No |
ClinGen TOPMed |
|
|
rs778437566 CA2425344 |
819 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA353065948 rs1251071228 |
820 | Q>* | No |
ClinGen gnomAD |
|
|
rs769459008 CA2425346 |
822 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237382757 CA353065992 |
823 | K>E | No |
ClinGen gnomAD |
|
|
rs748919543 CA2425348 |
825 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768260967 CA2425349 |
826 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs774182963 CA2425350 |
828 | H>P | No |
ClinGen ExAC |
|
|
rs149365368 CA2425351 |
829 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1456971698 CA353066178 |
829 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2425352 rs771981750 |
830 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425353 rs773167971 |
830 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766421021 CA2425355 |
831 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353066219 rs1376714522 |
831 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2425356 rs200949604 |
832 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2425357 rs759795814 |
833 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs765431473 CA2425358 |
833 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2425360 rs374246449 |
834 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2425359 rs374246449 |
834 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764654881 CA2425361 |
834 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353066371 rs1185504590 |
837 | S>N | No |
ClinGen TOPMed |
|
|
rs975323042 CA74708597 |
839 | A>P | No |
ClinGen gnomAD |
|
|
rs148453920 CA2425362 |
842 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA74708620 rs930969051 |
845 | S>G | No |
ClinGen Ensembl |
|
|
rs982835926 CA74708629 |
846 | L>F | No |
ClinGen Ensembl |
|
|
CA2425363 rs757881094 |
847 | G>D | No |
ClinGen ExAC |
|
|
rs757826006 CA2425380 |
851 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360173079 CA353066722 |
852 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353066743 rs1424461971 |
853 | Q>H | No |
ClinGen TOPMed |
|
|
rs1434471249 CA353066775 |
855 | V>I | No |
ClinGen gnomAD |
|
|
rs753326080 CA2425382 |
858 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754481569 CA2425383 |
859 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2425384 rs778582066 |
860 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2425385 rs747737086 |
861 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175613559 CA353066905 |
861 | G>V | No |
ClinGen TOPMed |
|
|
rs1220916692 CA353066912 |
862 | R>C | No |
ClinGen gnomAD |
|
|
rs1301892428 CA353066915 |
862 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA74708811 rs1030999467 |
863 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353066957 rs1559698828 |
865 | V>M | No |
ClinGen Ensembl |
|
|
rs1488392860 CA353066977 |
866 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746860293 CA2425388 |
867 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1217638108 CA353066999 COSM123487 |
868 | T>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs144973019 CA353067008 |
869 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425391 rs144973019 |
869 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2425390 rs776436857 |
869 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA353067026 rs1283553487 |
870 | S>L | No |
ClinGen TOPMed |
|
|
rs1193482971 CA353067036 |
871 | S>L | No |
ClinGen gnomAD |
|
|
CA353067055 rs1559698909 |
873 | L>G | No |
ClinGen Ensembl |
No associated diseases with Q14416
6 regional properties for Q14416
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Receptor, ligand binding region | 60 - 458 | IPR001828 |
| domain | GPCR, family 3, nine cysteines domain | 496 - 546 | IPR011500 |
| domain | GPCR family 3, C-terminal | 562 - 833 | IPR017978 |
| conserved_site | GPCR, family 3, conserved site | 151 - 169 | IPR017979-1 |
| conserved_site | GPCR, family 3, conserved site | 518 - 540 | IPR017979-2 |
| conserved_site | GPCR, family 3, conserved site | 756 - 766 | IPR017979-3 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| astrocyte projection | A prolongation or process extending from the soma of an astrocyte and wrapping around neurons. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic membrane | The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the 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. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| adenylate cyclase inhibiting G protein-coupled glutamate receptor activity | Combining with glutamate and transmitting the signal across the membrane by activating the alpha-subunit of an associated heterotrimeric G-protein complex to inhibit downstream adenylate cyclase activity. |
| calcium channel regulator activity | Modulates the activity of a calcium channel. |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| glutamate receptor activity | Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| group II metabotropic glutamate receptor activity | A G protein-coupled receptor that is activated by trans-1-aminocyclopentane-1,3-dicarboxylic acid (t-ACPD) and inhibits adenylate cyclase activity. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| behavioral response to nicotine | Any process that results in a change in the behavior of an organism as a result of a nicotine stimulus. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| G protein-coupled glutamate receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by glutamate binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| glutamate homeostasis | Any process involved in the maintenance of an internal steady state of glutamate within an organism or cell. |
| glutamate secretion | The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. |
| negative regulation of adenylate cyclase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of adenylate cyclase activity. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| regulation of glutamate secretion | Any process that modulates the frequency, rate or extent of the controlled release of glutamate. |
| regulation of protein kinase B signaling | Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| regulation of response to drug | Any process that modulates the frequency, rate or extent of response to drug. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| response to cocaine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41180 | CASR | Extracellular calcium-sensing receptor | Homo sapiens (Human) | PR |
| O00222 | GRM8 | Metabotropic glutamate receptor 8 | Homo sapiens (Human) | PR |
| Q9QYS2 | Grm3 | Metabotropic glutamate receptor 3 | Mus musculus (Mouse) | PR |
| P47743 | Grm8 | Metabotropic glutamate receptor 8 | Mus musculus (Mouse) | PR |
| Q3UVX5 | Grm5 | Metabotropic glutamate receptor 5 | Mus musculus (Mouse) | PR |
| Q14BI2 | Grm2 | Metabotropic glutamate receptor 2 | Mus musculus (Mouse) | PR |
| P31422 | Grm3 | Metabotropic glutamate receptor 3 | Rattus norvegicus (Rat) | PR |
| P31421 | Grm2 | Metabotropic glutamate receptor 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSLLALLAL | LLLWGAVAEG | PAKKVLTLEG | DLVLGGLFPV | HQKGGPAEDC | GPVNEHRGIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLEAMLFALD | RINRDPHLLP | GVRLGAHILD | SCSKDTHALE | QALDFVRASL | SRGADGSRHI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CPDGSYATHG | DAPTAITGVI | GGSYSDVSIQ | VANLLRLFQI | PQISYASTSA | KLSDKSRYDY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FARTVPPDFF | QAKAMAEILR | FFNWTYVSTV | ASEGDYGETG | IEAFELEARA | RNICVATSEK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VGRAMSRAAF | EGVVRALLQK | PSARVAVLFT | RSEDARELLA | ASQRLNASFT | WVASDGWGAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESVVAGSEGA | AEGAITIELA | SYPISDFASY | FQSLDPWNNS | RNPWFREFWE | QRFRCSFRQR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DCAAHSLRAV | PFEQESKIMF | VVNAVYAMAH | ALHNMHRALC | PNTTRLCDAM | RPVNGRRLYK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DFVLNVKFDA | PFRPADTHNE | VRFDRFGDGI | GRYNIFTYLR | AGSGRYRYQK | VGYWAEGLTL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DTSLIPWASP | SAGPLPASRC | SEPCLQNEVK | SVQPGEVCCW | LCIPCQPYEY | RLDEFTCADC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GLGYWPNASL | TGCFELPQEY | IRWGDAWAVG | PVTIACLGAL | ATLFVLGVFV | RHNATPVVKA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGRELCYILL | GGVFLCYCMT | FIFIAKPSTA | VCTLRRLGLG | TAFSVCYSAL | LTKTNRIARI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FGGAREGAQR | PRFISPASQV | AICLALISGQ | LLIVVAWLVV | EAPGTGKETA | PERREVVTLR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CNHRDASMLG | SLAYNVLLIA | LCTLYAFKTR | KCPENFNEAK | FIGFTMYTTC | IIWLAFLPIF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YVTSSDYRVQ | TTTMCVSVSL | SGSVVLGCLF | APKLHIILFQ | PQKNVVSHRA | PTSRFGSAAA |
| 850 | 860 | 870 | |||
| RASSSLGQGS | GSQFVPTVCN | GREVVDSTTS | SL |