O60658
PR
Gene name |
PDE8A |
Protein name |
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5151 |
EC number |
3.1.4.53: Phosphoric diester hydrolases |
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
10 structures for O60658
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3ECM | X-ray | 190 A | A | 482-819 | PDB |
| 3ECN | X-ray | 210 A | A/B | 482-819 | PDB |
| 7CWA | X-ray | 280 A | A | 482-819 | PDB |
| 7CWF | X-ray | 280 A | A | 482-819 | PDB |
| 7CWG | X-ray | 280 A | A | 482-819 | PDB |
| 7VSL | X-ray | 250 A | A | 482-819 | PDB |
| 7VTV | X-ray | 280 A | A | 482-819 | PDB |
| 7VTW | X-ray | 280 A | A | 482-819 | PDB |
| 7VTX | X-ray | 250 A | A | 482-819 | PDB |
| AF-O60658-F1 | Predicted | AlphaFoldDB |
671 variants for O60658
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA393372055 rs1328781559 |
3 | C>G | No |
ClinGen TOPMed |
|
|
rs756995817 CA7711070 |
5 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393372087 rs1408764355 |
8 | H>N | No |
ClinGen gnomAD |
|
|
CA393372091 rs1468378020 |
8 | H>R | No |
ClinGen gnomAD |
|
|
CA7711072 rs746281373 |
9 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393372099 rs746281373 |
9 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756522177 CA7711073 |
11 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780514090 CA7711074 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393372118 rs1268550470 |
12 | R>L | No |
ClinGen gnomAD |
|
|
rs867563967 CA273634771 |
16 | E>K | No |
ClinGen Ensembl |
|
|
rs748162603 CA7711078 |
21 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596402752 CA393372181 |
22 | A>E | No |
ClinGen Ensembl |
|
|
rs1213024104 CA393372185 |
23 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393372183 rs1213024104 |
23 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393372197 rs1477742521 |
25 | P>A | No |
ClinGen gnomAD |
|
|
rs1367799753 CA393372199 |
25 | P>L | No |
ClinGen TOPMed |
|
|
CA393372198 rs1367799753 |
25 | P>Q | No |
ClinGen TOPMed |
|
|
rs1388653788 CA393372209 |
27 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393372210 rs1388653788 |
27 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1200797892 CA393372216 |
28 | S>C | No |
ClinGen gnomAD |
|
|
rs765047902 CA393372224 CA7711082 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765047902 CA393372225 |
30 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273634856 rs994946247 |
33 | L>F | No |
ClinGen TOPMed |
|
|
rs1231464145 CA393372250 |
34 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751150974 CA7711086 |
36 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316223967 CA393372260 |
36 | G>S | No |
ClinGen gnomAD |
|
|
CA7711087 rs756688402 |
37 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767245948 CA7711088 |
38 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA393372285 rs1222654083 |
40 | A>T | No |
ClinGen gnomAD |
|
|
rs1352393758 CA393372293 |
41 | A>S | No |
ClinGen gnomAD |
|
|
rs750119375 CA7711089 |
41 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393372305 rs1490377362 |
43 | P>H | No |
ClinGen gnomAD |
|
|
CA7711090 rs755783055 |
43 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271652763 CA393372311 |
44 | R>L | No |
ClinGen gnomAD |
|
|
CA7711091 rs181576780 |
44 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393372314 rs1596402890 |
45 | T>A | No |
ClinGen Ensembl |
|
|
CA7711092 rs749605495 |
45 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393372319 rs1364741454 |
46 | R>C | No |
ClinGen gnomAD |
|
|
rs755565554 CA7711093 |
47 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA393372325 rs1273183721 |
47 | G>D | No |
ClinGen gnomAD |
|
|
rs1425342709 CA393372332 |
48 | A>G | No |
ClinGen gnomAD |
|
|
rs1379724015 CA393372330 |
48 | A>T | No |
ClinGen gnomAD |
|
|
rs1425342709 CA393372333 |
48 | A>V | No |
ClinGen gnomAD |
|
|
CA393372337 rs1165606954 |
49 | G>D | No |
ClinGen gnomAD |
|
|
rs1319937100 CA393372341 |
50 | L>V | No |
ClinGen TOPMed |
|
|
rs1329224248 CA393372346 |
51 | L>M | No |
ClinGen gnomAD |
|
|
CA273634915 rs943984676 |
52 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs943984676 CA393372353 |
52 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1439508895 CA393372363 |
53 | S>* | No |
ClinGen gnomAD |
|
|
CA393372370 rs1278625385 |
54 | E>G | No |
ClinGen gnomAD |
|
|
CA7711097 rs11540803 |
55 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393372381 rs1289041095 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7711098 rs747237683 |
57 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393372395 rs932436211 |
58 | G>D | No |
ClinGen gnomAD |
|
|
rs932436211 CA273634948 |
58 | G>V | No |
ClinGen gnomAD |
|
|
CA273634949 rs1050547481 |
59 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1439948231 CA393372401 |
59 | S>I | No |
ClinGen gnomAD |
|
|
rs1237781382 CA393372407 |
60 | G>D | No |
ClinGen gnomAD |
|
|
CA393372404 rs1180153449 |
60 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs377631194 CA273634952 |
61 | K>E | No |
ClinGen Ensembl |
|
|
rs1445531839 CA393372414 |
61 | K>M | No |
ClinGen gnomAD |
|
|
rs538976610 CA7711113 |
64 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61734393 CA7711114 |
69 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7711115 rs61734393 |
69 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs565778413 CA7711117 |
72 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406554740 CA393375079 |
73 | M>I | No |
ClinGen gnomAD |
|
|
rs1169609348 CA393375053 |
73 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781363493 CA7711118 |
76 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711119 rs76082524 |
78 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7711120 rs768355046 |
80 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393375232 rs1434917157 |
81 | Q>E | No |
ClinGen gnomAD |
|
|
CA393376269 rs1262515616 |
83 | L>F | No |
ClinGen gnomAD |
|
|
CA393376276 rs1367980200 |
84 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393376284 rs1484949608 |
85 | V>A | No |
ClinGen gnomAD |
|
|
CA273661873 rs1015936627 |
86 | F>L | No |
ClinGen Ensembl |
|
|
CA7711144 rs573694359 |
87 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393376295 rs1567262015 |
87 | T>S | No |
ClinGen Ensembl |
|
|
rs770598113 CA7711145 |
88 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7711146 rs776215809 |
88 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393376311 rs759123928 |
89 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932106122 CA393376328 |
92 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs932106122 CA273661877 |
92 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA393376331 rs1419242947 |
92 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7711148 rs764929919 |
93 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7711149 rs138654324 |
97 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393376376 rs1163723286 |
98 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs976575471 CA273661890 |
99 | A>T | No |
ClinGen Ensembl |
|
|
CA273661902 rs921070477 |
101 | E>A | No |
ClinGen Ensembl |
|
|
CA393376439 rs1274901530 |
107 | C>Y | No |
ClinGen TOPMed |
|
|
rs1596485432 CA393376443 |
108 | T>A | No |
ClinGen Ensembl |
|
|
rs542989046 CA7711152 |
109 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711153 rs555958326 |
111 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_069109 rs17855018 CA273661937 |
112 | E>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1333580377 CA393376474 |
113 | A>S | No |
ClinGen TOPMed |
|
|
CA393376479 rs1309382639 |
113 | A>V | No |
ClinGen gnomAD |
|
|
CA7711155 rs371848959 |
117 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711156 rs756347692 |
118 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393376517 rs1361426200 |
119 | C>W | No |
ClinGen gnomAD |
|
|
rs367887491 CA7711157 |
120 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711159 rs758244784 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7711160 rs201204600 |
125 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147346694 CA7711161 |
127 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1312736970 CA393376582 |
129 | I>V | No |
ClinGen gnomAD |
|
|
rs1173196130 CA393376589 |
130 | I>V | No |
ClinGen TOPMed |
|
|
rs899205004 CA273661992 |
132 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427050561 CA393376632 |
136 | R>* | No |
ClinGen gnomAD |
|
|
rs139493851 CA7711162 |
136 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567262254 CA393376637 |
137 | Q>* | No |
ClinGen Ensembl |
|
|
rs776063476 CA7711163 |
137 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711165 rs769376752 |
139 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184000671 CA273662001 |
139 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769376752 CA393376650 |
139 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041678891 CA273662013 |
140 | A>V | No |
ClinGen Ensembl |
|
|
rs775187744 CA7711166 |
142 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761036926 CA7711192 |
147 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA393377041 rs761036926 |
147 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7711193 rs371778015 |
148 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370475497 CA393377084 |
150 | S>P | No |
ClinGen TOPMed |
|
|
CA393377091 rs1188383894 |
151 | K>Q | No |
ClinGen TOPMed |
|
|
CA393377152 rs1477395197 |
155 | N>S | No |
ClinGen TOPMed |
|
|
rs765552657 CA7711197 |
156 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1260907158 CA393377170 |
158 | I>T | No |
ClinGen TOPMed |
|
|
rs751444320 CA7711198 |
158 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1477682496 CA393377175 |
159 | V>I | No |
ClinGen gnomAD |
|
|
CA7711199 rs77528421 |
161 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77528421 CA273668337 |
161 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711200 rs574758093 |
163 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750408353 CA7711201 |
163 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755934347 CA7711202 |
164 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1299178472 CA393377311 |
164 | R>S | No |
ClinGen TOPMed |
|
|
rs201313995 CA273668970 |
165 | V>L | No |
ClinGen Ensembl |
|
|
CA393377325 rs1237313992 |
166 | D>N | No |
ClinGen gnomAD |
|
|
rs1227416591 CA393377340 |
167 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7711220 rs750124685 |
168 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7711221 rs756130346 |
169 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7711224 rs139127577 |
172 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393377712 rs1198654022 CA393377710 |
173 | M>I | No |
ClinGen gnomAD |
|
|
CA7711226 rs747828709 |
174 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778343897 CA7711225 |
174 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233762058 CA393377724 |
175 | F>L | No |
ClinGen gnomAD |
|
|
CA7711250 rs757587327 |
183 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7711249 rs556659453 |
183 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1212565052 CA393377783 |
183 | R>W | No |
ClinGen TOPMed |
|
|
CA393377794 rs1596500760 |
184 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 186 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273673544 rs1008405070 |
186 | E>G | No |
ClinGen TOPMed |
|
|
CA7711251 rs781658108 |
188 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393377816 rs781658108 |
188 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7711252 rs746385273 |
189 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1432174426 CA393377837 |
191 | M>R | No |
ClinGen gnomAD |
|
|
CA7711253 rs770363338 |
191 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355769346 CA393377843 |
192 | A>T | No |
ClinGen TOPMed |
|
|
rs145121842 CA7711254 |
195 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749321712 CA7711255 |
195 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393377886 rs1254177718 |
198 | L>F | No |
ClinGen gnomAD |
|
|
rs866177418 CA273673577 |
201 | E>K | No |
ClinGen Ensembl |
|
|
rs376339850 CA7711259 |
202 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273673599 rs974760515 |
203 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7711260 rs371062655 |
206 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393377939 rs1169764727 |
206 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs907657454 CA273673617 |
208 | Q>L | No |
ClinGen gnomAD |
|
|
CA273673628 rs1027221165 |
212 | R>G | No |
ClinGen TOPMed |
|
|
rs775313361 CA273676849 |
213 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711281 rs775313361 |
213 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393378011 rs1299432096 |
215 | N>K | No |
ClinGen gnomAD |
|
|
rs368348788 CA7711282 |
219 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193030242 CA393378055 |
222 | E>A | No |
ClinGen TOPMed |
|
|
CA393378061 rs1251539485 |
223 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751027100 CA7711285 |
225 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1189301778 CA393378087 |
226 | D>E | No |
ClinGen gnomAD |
|
|
CA393378092 rs1266215939 |
227 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA393378094 rs1266215939 |
227 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7711288 rs200592227 |
228 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7711287 rs536339532 |
228 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393378118 rs1596506442 |
231 | T>K | No |
ClinGen Ensembl |
|
|
COSM471186 CA7711292 rs559637860 |
233 | E>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 234 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7711293 rs755446076 |
235 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA393378145 rs755446076 |
235 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs192339320 CA7711295 |
235 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7711294 rs192339320 |
235 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393378153 rs772321633 |
236 | F>L | No |
ClinGen ExAC |
|
|
rs1292210869 CA393378150 |
236 | F>S | No |
ClinGen gnomAD |
|
|
CA393378156 rs1596506473 |
237 | I>V | No |
ClinGen Ensembl |
|
|
rs1436978112 CA393378194 |
240 | A>V | No |
ClinGen gnomAD |
|
|
CA273678012 rs1023143707 |
242 | P>L | No |
ClinGen TOPMed |
|
|
CA7711316 rs777791349 |
246 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs1365121052 | 247 | T>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747239934 CA393378242 |
248 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7711317 rs747239934 |
248 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1002620051 CA273678052 |
250 | Y>C | No |
ClinGen TOPMed |
|
|
rs117384144 CA7711319 |
250 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117384144 CA7711318 |
250 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393378266 rs1284017770 |
251 | Q>H | No |
ClinGen gnomAD |
|
|
rs148758494 CA7711320 |
251 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711321 rs199976667 |
253 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7711322 rs774319616 |
256 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA273678081 rs754743450 |
257 | G>E | No |
ClinGen Ensembl |
|
|
rs748046724 CA7711323 |
257 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7711324 rs771737003 |
259 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477203546 CA393378334 |
262 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA393378349 rs1002763783 |
264 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA273678100 rs1002763783 |
264 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1156732001 CA393378354 |
265 | I>K | No |
ClinGen gnomAD |
|
|
CA7711326 rs760417379 |
266 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405724930 CA393378363 |
266 | N>K | No |
ClinGen gnomAD |
|
|
CA393378365 rs1325357008 |
267 | E>K | No |
ClinGen gnomAD |
|
|
CA393378388 rs1347686113 |
269 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 269 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766041631 CA7711327 |
270 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238622027 CA393378406 |
272 | L>F | No |
ClinGen gnomAD |
|
|
CA273678119 rs1016449019 |
272 | L>S | No |
ClinGen Ensembl |
|
|
rs765470637 CA7711330 |
274 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368035170 CA7711331 |
276 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868554657 CA273678134 |
278 | S>P | No |
ClinGen gnomAD |
|
|
CA393378452 rs748842900 |
279 | C>* | No |
ClinGen gnomAD |
|
|
rs1350664044 CA393378448 |
279 | C>S | No |
ClinGen gnomAD |
|
|
rs758838663 CA7711332 |
280 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393378503 rs1474728882 |
285 | E>K | No |
ClinGen gnomAD |
|
|
rs1171138462 CA393378514 |
286 | W>* | No |
ClinGen gnomAD |
|
|
CA7711352 rs369550309 |
288 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1166789033 CA393378553 |
291 | Y>F | No |
ClinGen gnomAD |
|
|
rs868773403 CA273682277 |
292 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393378560 rs868773403 |
292 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs111868285 CA273682286 |
295 | K>E | No |
ClinGen TOPMed |
|
|
CA7711356 rs61748344 |
295 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414477774 CA393378583 |
296 | N>H | No |
ClinGen gnomAD |
|
|
rs370444809 CA393378589 |
296 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711358 rs373678620 |
297 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 298 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217088177 CA393378600 |
298 | D>V | No |
ClinGen gnomAD |
|
|
rs1596516466 CA393378608 |
299 | N>S | No |
ClinGen Ensembl |
|
|
rs781150436 CA7711359 |
300 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393378620 rs1345757090 |
301 | Q>* | No |
ClinGen gnomAD |
|
|
CA7711360 rs752525964 |
302 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1221330354 CA393378640 |
303 | N>K | No |
ClinGen gnomAD |
|
|
CA7711362 rs750560627 |
304 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711363 rs777831475 |
305 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746873093 CA7711364 |
306 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711365 rs770507644 |
306 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA393378664 rs1191980848 |
307 | I>M | No |
ClinGen gnomAD |
|
|
rs1398759737 CA393378670 |
308 | P>L | No |
ClinGen TOPMed |
|
|
rs1596516511 CA393378681 |
310 | I>T | No |
ClinGen Ensembl |
|
|
rs780504292 CA393378705 |
314 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA7711366 rs780504292 |
314 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA393378730 rs1382630150 |
316 | I>L | No |
ClinGen gnomAD |
|
|
CA393378751 rs1417920666 |
318 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA273683287 rs375788549 |
319 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs375788549 CA393378756 |
319 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393378769 rs1454097023 |
321 | S>C | No |
ClinGen TOPMed |
|
|
CA393378784 rs1468390872 |
323 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1369453971 CA393378787 |
324 | R>T | No |
ClinGen gnomAD |
|
|
CA7711388 rs779662885 |
325 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748886084 CA7711389 |
326 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769036634 CA7711390 |
327 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200830973 CA273683303 |
328 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1313122470 CA393378827 |
330 | N>T | No |
ClinGen gnomAD |
|
|
CA7711391 rs140590789 |
331 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779390541 CA7711411 |
332 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393378860 rs1270231097 |
333 | E>G | No |
ClinGen gnomAD |
|
|
rs748455286 CA7711412 |
335 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772674000 CA393378878 |
336 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393378880 rs865924081 |
336 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs772674000 CA7711413 |
336 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772674000 CA393378879 |
336 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273683373 rs865924081 |
336 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1230204146 CA393378884 |
337 | E>A | No |
ClinGen TOPMed |
|
|
rs959030349 CA273683374 |
337 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7711415 rs747478749 |
338 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711416 rs747478749 |
338 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273683380 rs1024765861 |
340 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM1736387 CA393378907 rs1417663424 |
340 | Q>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7711418 rs759898242 |
343 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA393378931 rs1176884232 |
344 | H>R | No |
ClinGen gnomAD |
|
|
rs760603874 CA7711419 |
345 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393378937 rs1596519202 |
345 | T>K | No |
ClinGen Ensembl |
|
|
CA7711441 rs775593345 |
346 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763198583 CA7711442 |
348 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393427244 rs1596527883 |
348 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 350 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771772430 CA7711443 |
351 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs772937038 CA7711444 |
352 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232959308 CA393427274 |
353 | K>E | No |
ClinGen gnomAD |
|
|
CA274268962 rs958274460 |
354 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760666003 CA7711445 |
359 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA393427322 rs1371863087 |
360 | L>V | No |
ClinGen TOPMed |
|
|
CA393427329 rs1355054557 |
361 | D>V | No |
ClinGen gnomAD |
|
|
COSM966022 CA7711447 rs753388144 |
362 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393427334 rs753388144 |
362 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274268968 rs867762915 |
363 | K>R | No |
ClinGen Ensembl |
|
|
rs758947847 CA7711448 |
366 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA393427362 rs1222636589 |
366 | A>V | No |
ClinGen gnomAD |
|
|
rs764756300 CA7711449 |
368 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711450 rs536962158 |
368 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs536962158 CA393427371 |
368 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274268972 rs536962158 |
368 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1037454757 CA274268975 |
370 | T>A | No |
ClinGen TOPMed |
|
|
rs778056193 CA7711452 |
371 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1182073668 CA393427385 |
371 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 372 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393427408 rs750903696 |
373 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393427411 rs1407741161 |
373 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs750903696 CA7711479 |
373 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393427407 rs750903696 |
373 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146543615 CA274269931 |
374 | S>N | No |
ClinGen ESP TOPMed |
|
|
CA274269933 rs141263963 |
377 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA7711480 rs145029040 |
377 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711481 rs573384080 |
379 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1046839575 CA274269937 |
380 | S>T | No |
ClinGen TOPMed |
|
|
CA7711483 rs755197594 |
381 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7711482 rs749383831 |
381 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748321768 CA7711485 |
383 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779086059 CA7711484 |
383 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191564439 CA393427482 |
385 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 386 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393427498 rs1194166702 CA393427500 |
387 | M>I | No |
ClinGen gnomAD |
|
|
CA393427495 rs1401669865 |
387 | M>K | No |
ClinGen TOPMed |
|
|
rs1005914468 CA274269943 |
388 | T>K | No |
ClinGen TOPMed |
|
|
rs1429079286 CA393427503 |
388 | T>S | No |
ClinGen gnomAD |
|
|
rs769772414 CA274269945 |
389 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776352236 CA7711487 |
389 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA393427513 rs1189780215 |
390 | E>K | No |
ClinGen gnomAD |
|
|
CA7711490 rs774901746 |
393 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs189786604 CA7711489 |
393 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274269951 rs955277879 |
394 | T>S | No |
ClinGen Ensembl |
|
|
CA393427563 rs1380790060 |
396 | V>I | No |
ClinGen gnomAD |
|
|
CA7711507 rs769665787 |
397 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711508 rs775517025 |
398 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711509 rs749136689 |
400 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711512 rs62019510 |
401 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7711511 rs62019510 |
401 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7711513 rs767278057 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7711515 rs761081166 |
403 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7711517 rs754401076 |
405 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1441402478 CA393427656 |
409 | M>I | No |
ClinGen TOPMed |
|
|
CA7711518 rs759969174 |
411 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200420585 CA7711521 |
414 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200420585 CA7711520 |
414 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7711523 rs751681396 |
415 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs751681396 CA393427686 |
415 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1365953268 CA393427691 |
416 | D>H | No |
ClinGen gnomAD |
|
|
COSM1220030 rs755966093 CA7711524 |
417 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7711525 rs201954186 |
417 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749247151 CA7711526 |
420 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1006681613 CA274270067 |
425 | T>A | No |
ClinGen Ensembl |
|
|
rs778637587 CA7711528 |
428 | Y>F | No |
ClinGen ExAC |
|
|
CA274270069 rs765830485 |
429 | S>T | No |
ClinGen Ensembl |
|
|
CA393427778 rs1211545629 |
430 | P>A | No |
ClinGen gnomAD |
|
|
CA393427790 rs1269788465 |
431 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1391937311 CA393427802 |
433 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747633684 CA7711529 |
434 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs771902417 CA7711530 |
434 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7711531 rs772940777 |
437 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs371050775 CA7711532 |
437 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393427845 rs1425609704 |
440 | H>N | No |
ClinGen gnomAD |
|
|
rs760101969 CA7711535 |
442 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs141333091 CA7711536 |
442 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201164178 CA7711537 |
443 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200432446 CA7711539 |
445 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7711538 rs555935860 |
445 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393427891 rs1181537171 |
447 | G>D | No |
ClinGen gnomAD |
|
|
CA274270081 rs1001220701 |
450 | S>A | No |
ClinGen gnomAD |
|
|
rs1001220701 CA393427910 |
450 | S>P | No |
ClinGen gnomAD |
|
|
CA393427912 rs1418839690 |
450 | S>Y | No |
ClinGen gnomAD |
|
|
rs753738202 CA7711560 |
451 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7711559 rs368543573 |
451 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393427947 rs1362226248 |
454 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7711561 rs147442036 |
454 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549881223 CA7711562 |
456 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758210830 CA7711564 |
461 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1486826932 CA393427999 |
462 | V>A | No |
ClinGen gnomAD |
|
|
rs746470340 CA7711566 |
462 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA274270376 rs913714635 |
464 | S>* | No |
ClinGen Ensembl |
|
|
rs988238527 CA274270374 |
464 | S>P | No |
ClinGen Ensembl |
|
|
CA274270378 rs949203787 |
465 | T>A | No |
ClinGen TOPMed |
|
|
rs756981588 CA7711567 |
466 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1334345015 CA393428039 |
467 | N>S | No |
ClinGen TOPMed |
|
|
CA7711588 rs751463794 |
469 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA393428059 rs1254805674 |
470 | M>T | No |
ClinGen gnomAD |
|
|
CA7711589 rs756747791 |
470 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1452564420 CA393428066 |
471 | V>F | No |
ClinGen gnomAD |
|
|
rs780611651 CA7711590 |
473 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA393428082 rs1567296449 |
473 | S>R | No |
ClinGen Ensembl |
|
|
CA274270515 rs918141667 |
474 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs137905415 CA7711591 |
474 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393428097 rs1344246813 |
476 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 478 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755746580 CA7711592 |
479 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780460516 CA7711593 |
480 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA274270522 rs143424001 |
481 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA393428133 rs1367232111 |
482 | D>Y | No |
ClinGen TOPMed |
|
|
CA393428155 rs1274811737 |
485 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1274811737 CA393428153 |
485 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393428161 rs1439506878 |
486 | P>S | No |
ClinGen TOPMed |
|
|
CA7711595 COSM1261787 rs769259809 |
487 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201680379 CA7711596 |
488 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374872492 CA274270525 |
489 | A>P | No |
ClinGen ESP |
|
|
CA7711597 rs369514553 |
490 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773369530 CA7711599 |
490 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7711598 rs369514553 |
490 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167674147 CA393428189 |
492 | M>V | No |
ClinGen TOPMed |
|
|
CA393428199 rs1299503771 |
493 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1299503771 CA393428197 |
493 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7711601 rs761037225 |
494 | N>S | No |
ClinGen ExAC |
|
|
CA7711602 rs771274896 |
495 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA274270530 rs776002203 |
497 | Y>H | No |
ClinGen Ensembl |
|
|
CA393428236 rs1567296590 |
498 | W>G | No |
ClinGen Ensembl |
|
|
rs775404502 CA393428258 |
500 | F>L | No |
ClinGen ExAC |
|
|
CA274270533 rs200205707 |
501 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1275175758 CA393428264 |
501 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763908208 CA7711605 |
502 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233403304 CA393428274 |
503 | F>V | No |
ClinGen gnomAD |
|
|
rs751452338 CA7711606 |
507 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA274270536 rs1033900245 |
508 | A>S | No |
ClinGen Ensembl |
|
|
CA274270541 rs762468161 |
509 | T>I | No |
ClinGen Ensembl |
|
|
rs1166429322 CA393428322 |
510 | H>Q | No |
ClinGen gnomAD |
|
|
rs1461686748 CA393428319 |
510 | H>R | No |
ClinGen gnomAD |
|
|
CA7711607 rs761749774 |
511 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393428354 rs1270901634 |
513 | P>R | No |
ClinGen gnomAD |
|
|
rs779203534 CA7711634 |
524 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7711635 rs775184576 |
524 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7711636 rs775184576 |
524 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711638 rs747476594 |
525 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757416548 CA7711639 |
528 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs757416548 CA393428454 |
528 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1393848063 CA393428464 |
529 | E>D | No |
ClinGen gnomAD |
|
|
CA7711640 rs781272010 |
531 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393428483 rs1387003757 |
532 | H>L | No |
ClinGen TOPMed |
|
|
rs1167205048 CA393428486 |
532 | H>Q | No |
ClinGen gnomAD |
|
|
CA274270877 rs972215104 |
533 | C>G | No |
ClinGen TOPMed |
|
|
rs746131355 CA7711641 |
534 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7711644 rs200743547 |
535 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711645 rs771808654 |
536 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274270885 rs940749948 |
537 | T>A | No |
ClinGen gnomAD |
|
|
CA7711646 rs773169947 |
537 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428742246 CA393428524 |
539 | R>I | No |
ClinGen gnomAD |
|
|
rs1461186989 CA393428530 |
540 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7711648 rs765820635 |
543 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA274270891 rs267604356 |
543 | Q>R | No |
ClinGen Ensembl |
|
|
rs369741762 CA274270893 |
544 | I>L | No |
ClinGen Ensembl |
|
|
CA7711649 rs139525378 |
545 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA274270897 rs901636413 |
548 | N>H | No |
ClinGen Ensembl |
|
|
rs764913499 CA7711651 |
548 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7711652 rs752347816 |
551 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758863617 CA7711653 |
553 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7711654 rs762948717 |
557 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711655 rs752125032 |
559 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393428678 rs1295462458 |
562 | A>G | No |
ClinGen TOPMed |
|
|
CA7711656 rs757821815 |
562 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781191800 CA7711657 |
563 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7711658 rs745927563 |
564 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA393428705 rs1384038000 |
566 | H>Q | No |
ClinGen TOPMed |
|
|
rs1385943754 CA393428714 |
568 | T>A | No |
ClinGen TOPMed |
|
|
rs893038984 CA274270906 |
570 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7711659 rs756337128 |
572 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA274270908 rs915848530 |
574 | K>E | No |
ClinGen TOPMed |
|
|
rs1448745219 CA393428769 |
576 | R>S | No |
ClinGen TOPMed |
|
|
CA7711662 rs771862210 |
576 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7711663 rs772937143 |
578 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781219001 CA7711683 |
582 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385027911 CA393428822 |
582 | D>Y | No |
ClinGen TOPMed |
|
|
CA393428830 rs1196720522 |
583 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1202676261 CA393428829 |
583 | P>S | No |
ClinGen gnomAD |
|
|
CA7711684 rs745722996 |
586 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010816945 CA274271537 |
587 | V>I | No |
ClinGen gnomAD |
|
|
CA7711686 rs561761878 |
588 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 590 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530786771 CA7711689 |
591 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7711690 rs762258126 |
591 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7711692 COSM701515 rs750948067 |
592 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761034681 CA7711693 |
593 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1004288690 CA274271546 |
597 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA393428942 rs1357050229 |
601 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393428946 rs1596539344 |
601 | P>R | No |
ClinGen Ensembl |
|
|
CA393428943 rs1357050229 |
601 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311448180 CA393428968 |
605 | N>D | No |
ClinGen gnomAD |
|
|
CA393428970 rs370281755 |
605 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711695 rs370281755 |
605 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370281755 CA274271549 |
605 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393428986 rs779087799 |
607 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752814606 CA7711698 |
613 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA393429072 rs1258474304 |
620 | N>S | No |
ClinGen gnomAD |
|
|
CA7711700 rs144501404 |
622 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393429088 COSM3401981 rs144501404 |
622 | T>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs980715953 CA274271555 |
624 | V>M | No |
ClinGen TOPMed |
|
|
rs926489514 CA274271557 |
626 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs146636539 CA7711702 |
627 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711703 rs533005003 |
628 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274271561 rs1051356617 |
629 | H>R | No |
ClinGen Ensembl |
|
|
CA7711704 rs374802816 |
630 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393429143 rs1445406662 |
631 | A>V | No |
ClinGen gnomAD |
|
|
CA7711707 rs761306986 |
632 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711708 rs772504111 |
633 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 634 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7711709 CA393429169 rs773439399 |
635 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769934168 CA7711710 |
636 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199542836 CA7711712 |
638 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199542836 CA393429184 |
638 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711713 rs143606889 |
641 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237135427 CA393429223 |
644 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1486199567 CA393429226 |
644 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA274271579 rs765233588 |
645 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711714 rs765233588 |
645 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA274271582 rs936138489 |
648 | N>T | No |
ClinGen TOPMed |
|
|
CA274271584 rs1039935765 |
650 | E>G | No |
ClinGen TOPMed |
|
|
CA274271583 rs764261062 |
650 | E>K | No |
ClinGen Ensembl |
|
|
rs765356649 CA7711736 |
652 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7711738 rs375401413 |
655 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7711739 rs558540361 |
655 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711737 rs375401413 |
655 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs751752777 CA7711740 |
657 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs751752777 CA7711741 |
657 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs199674218 CA7711742 |
658 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393429328 rs1274686948 |
658 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754957023 CA7711744 |
662 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7711747 rs758119361 |
663 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140486977 CA7711746 |
663 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA274272053 rs965759157 |
664 | M>V | No |
ClinGen Ensembl |
|
|
CA7711748 rs777314027 |
665 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA274272055 rs920293341 |
665 | V>I | No |
ClinGen TOPMed |
|
|
CA393429373 rs920293341 |
665 | V>L | No |
ClinGen TOPMed |
|
|
CA7711750 rs771297594 |
666 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA393429384 rs1334998185 |
667 | A>T | No |
ClinGen TOPMed |
|
|
rs1567301820 CA393429408 |
670 | M>I | No |
ClinGen Ensembl |
|
|
CA7711751 rs776965821 CA274272060 |
672 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382976959 CA393429426 |
673 | H>P | No |
ClinGen TOPMed |
|
|
rs1419524154 CA393429429 |
673 | H>Q | No |
ClinGen gnomAD |
|
|
CA7711752 rs746439446 |
675 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596541493 CA393429464 |
678 | N>S | No |
ClinGen Ensembl |
|
|
rs1162662591 CA393429469 |
679 | K>E | No |
ClinGen TOPMed |
|
|
CA393429473 rs1164556211 |
679 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393429486 rs1415379271 |
681 | V>I | No |
ClinGen gnomAD |
|
|
CA393429490 rs1402299845 |
682 | N>H | No |
ClinGen gnomAD |
|
|
CA393429496 rs747854948 |
682 | N>K | No |
ClinGen gnomAD |
|
|
rs1404134882 CA393429507 |
684 | I>F | No |
ClinGen gnomAD |
|
|
rs1323514040 CA393429517 |
685 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393429531 rs1355425772 |
687 | P>S | No |
ClinGen gnomAD |
|
|
CA7711753 rs770169960 |
689 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770169960 CA393429546 |
689 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 693 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393429582 rs1428674783 |
695 | G>R | No |
ClinGen gnomAD |
|
|
CA393429603 rs1367342926 |
696 | E>G | No |
ClinGen gnomAD |
|
|
rs774563026 CA7711774 |
696 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7711775 rs376435048 |
697 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224731802 CA393429608 |
697 | T>S | No |
ClinGen gnomAD |
|
|
rs1348360272 CA393429632 |
700 | N>S | No |
ClinGen gnomAD |
|
|
rs759427753 CA7711778 |
701 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs776617344 CA7711777 |
701 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361320852 CA393429653 |
703 | V>E | No |
ClinGen TOPMed |
|
|
CA393429659 rs1212958492 |
704 | I>K | No |
ClinGen gnomAD |
|
|
rs1315400952 CA393429669 |
705 | N>K | No |
ClinGen TOPMed |
|
|
rs963904035 COSM1129077 CA274272699 |
706 | T>N | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 707 | M>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7711780 rs552839781 |
707 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762933083 CA7711781 |
708 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7711782 rs763577895 |
709 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393429706 rs1466888347 |
711 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393429713 rs1389450641 |
712 | E>D | No |
ClinGen TOPMed |
|
|
CA393429717 rs1300891489 |
713 | N>Y | No |
ClinGen TOPMed |
|
|
rs373904014 CA393429724 |
714 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7711784 rs373904014 |
714 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751038012 CA7711783 |
714 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA393429743 rs1432763811 |
717 | I>M | No |
ClinGen gnomAD |
|
|
CA7711785 rs780840769 |
718 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs951040608 CA274272708 |
719 | R>* | No |
ClinGen TOPMed |
|
|
CA393429762 rs1272710819 |
720 | M>I | No |
ClinGen gnomAD |
|
|
CA7711787 rs756435589 |
720 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7711788 rs780405104 |
727 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780405104 CA393429805 |
727 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA393429816 rs1269517819 |
729 | N>D | No |
ClinGen gnomAD |
|
|
rs749820671 CA7711789 |
729 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs141141657 CA7711790 |
730 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7711792 COSM1375116 rs748220659 |
732 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772229631 CA7711793 |
732 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393429846 rs1160228274 |
734 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA274272716 rs1026451508 |
734 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393429851 rs1390861196 |
735 | Q>* | No |
ClinGen gnomAD |
|
|
rs760886154 CA7711795 |
735 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1271836452 CA393429873 |
738 | I>V | No |
ClinGen TOPMed |
|
|
CA7711798 rs762837628 |
739 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711800 rs774223934 |
740 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA7711801 rs761340368 |
743 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289850505 CA393429909 |
743 | R>H | No |
ClinGen gnomAD |
|
|
CA7711802 rs766944464 |
744 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758688096 CA7711803 |
745 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758688096 CA274272724 |
745 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711807 rs189984804 |
750 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs755490265 | 751 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393429965 rs755490265 |
751 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1264947328 CA393429980 |
752 | T>S | No |
ClinGen TOPMed |
|
|
CA393429988 rs1351889801 |
753 | D>A | No |
ClinGen TOPMed |
|
|
rs201797380 CA7711832 |
753 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274274915 rs201797380 |
753 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274274919 rs200364858 |
755 | E>G | No |
ClinGen 1000Genomes |
|
|
CA393430020 rs1380638442 |
757 | Q>H | No |
ClinGen gnomAD |
|
|
CA393430022 rs1276007757 |
758 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA274274921 rs199742753 |
758 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA7711833 rs200642343 |
759 | G>D | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 761 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243270314 CA393430046 |
761 | P>L | No |
ClinGen TOPMed |
|
|
rs1382773070 CA393430050 |
762 | V>A | No |
ClinGen gnomAD |
|
|
CA7711835 rs781503959 |
762 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781503959 CA393430047 |
762 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA274274925 rs112859868 |
763 | V>A | No |
ClinGen gnomAD |
|
|
rs768451736 CA7711837 |
763 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768451736 CA274274924 |
763 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274274927 rs1034909333 |
765 | P>A | No |
ClinGen Ensembl |
|
|
CA393430067 rs1204032165 |
765 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7711838 rs774118354 |
766 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA274274928 rs960634201 |
768 | D>N | No |
ClinGen Ensembl |
|
|
CA393430111 rs1567310303 |
772 | C>R | No |
ClinGen Ensembl |
|
|
CA393430134 rs1180251018 |
775 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393430135 rs1180251018 |
775 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7711839 rs748148113 |
776 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711840 rs771968154 |
776 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA274274932 rs772648246 |
777 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7711841 rs772648246 |
777 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7711842 rs760255579 |
779 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770311203 CA7711843 |
781 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA393430176 rs1360601906 |
782 | I>F | No |
ClinGen gnomAD |
|
|
CA7711845 rs375929785 |
782 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1301802829 CA393430183 |
783 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA393430245 rs1405952521 |
791 | D>Y | No |
ClinGen gnomAD |
|
|
CA274274936 rs772311251 |
792 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7711846 rs765757912 |
792 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 793 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393430267 rs1363396659 |
794 | D>Y | No |
ClinGen gnomAD |
|
|
CA274275226 rs557985301 |
797 | V>I | No |
ClinGen Ensembl |
|
|
rs759331681 CA7711866 |
798 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393430312 rs1446404396 |
799 | L>V | No |
ClinGen gnomAD |
|
|
CA393430316 rs1160494262 |
800 | P>S | No |
ClinGen TOPMed |
|
|
rs763438675 CA7711868 |
801 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7711869 rs764294179 |
802 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1198168538 CA393430337 |
803 | M>V | No |
ClinGen gnomAD |
|
|
CA393430362 rs1474940049 |
806 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 807 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532053506 CA7711870 |
808 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393430386 rs1473279672 |
809 | N>S | No |
ClinGen gnomAD |
|
|
rs1415685203 CA716496562 |
812 | Y>* | No |
ClinGen TOPMed |
|
|
CA7711871 rs762212348 |
813 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1190346368 CA393430425 |
814 | K>R | No |
ClinGen TOPMed |
|
|
rs1166140789 CA393430431 |
815 | G>E | No |
ClinGen gnomAD |
|
|
CA7711872 rs150757036 CA393430430 |
815 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750469781 CA393430445 |
817 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302779652 CA393430458 |
819 | M>K | No |
ClinGen gnomAD |
|
|
CA7711876 rs780278500 |
822 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7711875 rs552082599 |
822 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7711877 rs754020263 |
824 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7711879 rs758221419 |
825 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274275237 rs201958312 |
825 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199658876 CA393430497 |
826 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7711880 rs199658876 |
826 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1294660197 CA393430515 |
829 | E>Q | No |
ClinGen TOPMed |
|
|
rs747028074 CA7711881 |
830 | E>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with O60658
5 regional properties for O60658
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PAS domain | 220 - 324 | IPR000014 |
| domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 480 - 820 | IPR002073 |
| domain | HD/PDEase domain | 553 - 749 | IPR003607 |
| domain | PAS fold | 219 - 324 | IPR013767 |
| conserved_site | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | 596 - 607 | IPR023174 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.53 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-AMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic AMP + H2O = AMP + H+. |
| 3',5'-cyclic-GMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic GMP + H2O = GMP + H+. |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| metal ion binding | Binding to a metal ion. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cAMP catabolic process | The chemical reactions and pathways resulting in the breakdown of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate). |
| cellular response to epidermal growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus. |
| negative regulation of cell death | Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
| negative regulation of hydrogen peroxide-induced cell death | Any process that stops, prevents or reduces the frequency, rate or extent of hydrogen peroxide-induced cell death. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P27815 | PDE4A | cAMP-specific 3',5'-cyclic phosphodiesterase 4A | Homo sapiens (Human) | EV SS |
| Q07343 | PDE4B | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Homo sapiens (Human) | EV SS |
| Q08493 | PDE4C | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Homo sapiens (Human) | EV SS |
| Q08499 | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Homo sapiens (Human) | EV |
| O76083 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Homo sapiens (Human) | PR |
| P54750 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | Homo sapiens (Human) | PR |
| Q9Y233 | PDE10A | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Homo sapiens (Human) | PR |
| Q9HCR9 | PDE11A | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Homo sapiens (Human) | SS |
| P35913 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Homo sapiens (Human) | PR |
| P51160 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Homo sapiens (Human) | PR |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGCAPSIHIS | ERLVAEDAPS | PAAPPLSSGG | PRLPQGQKTA | ALPRTRGAGL | LESELRDGSG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKVAVADVQF | GPMRFHQDQL | QVLLVFTKED | NQCNGFCRAC | EKAGFKCTVT | KEAQAVLACF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDKHHDIIII | DHRNPRQLDA | EALCRSIRSS | KLSENTVIVG | VVRRVDREEL | SVMPFISAGF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TRRYVENPNI | MACYNELLQL | EFGEVRSQLK | LRACNSVFTA | LENSEDAIEI | TSEDRFIQYA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NPAFETTMGY | QSGELIGKEL | GEVPINEKKA | DLLDTINSCI | RIGKEWQGIY | YAKKKNGDNI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQNVKIIPVI | GQGGKIRHYV | SIIRVCNGNN | KAEKISECVQ | SDTHTDNQTG | KHKDRRKGSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DVKAVASRAT | EVSSQRRHSS | MARIHSMTIE | APITKVINII | NAAQESSPMP | VTEALDRVLE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILRTTELYSP | QFGAKDDDPH | ANDLVGGLMS | DGLRRLSGNE | YVLSTKNTQM | VSSNIITPIS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDDVPPRIAR | AMENEEYWDF | DIFELEAATH | NRPLIYLGLK | MFARFGICEF | LHCSESTLRS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WLQIIEANYH | SSNPYHNSTH | SADVLHATAY | FLSKERIKET | LDPIDEVAAL | IAATIHDVDH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PGRTNSFLCN | AGSELAILYN | DTAVLESHHA | ALAFQLTTGD | DKCNIFKNME | RNDYRTLRQG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IIDMVLATEM | TKHFEHVNKF | VNSINKPLAT | LEENGETDKN | QEVINTMLRT | PENRTLIKRM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LIKCADVSNP | CRPLQYCIEW | AARISEEYFS | QTDEEKQQGL | PVVMPVFDRN | TCSIPKSQIS |
| 790 | 800 | 810 | 820 | ||
| FIDYFITDMF | DAWDAFVDLP | DLMQHLDNNF | KYWKGLDEMK | LRNLRPPPE |