O60242
PR
Gene name |
ADGRB3 |
Protein name |
Adhesion G protein-coupled receptor B3 |
Names |
Brain-specific angiogenesis inhibitor 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:577 |
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
2 structures for O60242
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4DLO | X-ray | 230 A | A/B | 498-868 | PDB |
| AF-O60242-F1 | Predicted | AlphaFoldDB |
1174 variants for O60242
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582089866 CA364791000 |
3 | A>T | No |
ClinGen Ensembl |
|
|
COSM194897 CA3878176 rs759189744 |
5 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 5 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364791012 rs759189744 |
5 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878177 rs771677052 |
6 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA364791020 rs150481950 |
6 | N>S | No |
ClinGen ESP gnomAD |
|
|
CA140870610 rs150481950 |
6 | N>T | No |
ClinGen ESP gnomAD |
|
|
CA364791039 rs1323726514 |
9 | I>M | No |
ClinGen gnomAD |
|
|
CA364791053 rs1474553678 |
11 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs919904915 CA140870618 |
11 | I>V | No |
ClinGen TOPMed |
|
|
CA364791054 rs1167299638 |
12 | F>L | No |
ClinGen gnomAD |
|
|
CA3878180 rs763907015 |
14 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs915287867 CA140870627 |
17 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3878182 rs181173072 |
18 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758538092 CA3878185 CA364791101 |
19 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3878184 rs750712629 |
19 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA364791107 rs1441564520 |
20 | F>S | No |
ClinGen gnomAD |
|
|
rs370183064 CA3878186 |
21 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1561979192 CA364791117 |
22 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1216425138 CA364791145 |
26 | Q>E | No |
ClinGen gnomAD |
|
|
CA140870642 rs1039800322 |
27 | D>V | No |
ClinGen Ensembl |
|
|
rs781771290 CA3878189 |
28 | F>L | No |
ClinGen ExAC TOPMed |
|
|
CA364791160 rs781771290 |
28 | F>V | No |
ClinGen ExAC TOPMed |
|
|
CA364791174 rs1335268203 |
29 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA364791170 rs1164914090 |
29 | W>S | No |
ClinGen TOPMed |
|
|
CA364791190 rs1232415209 |
32 | T>A | No |
ClinGen gnomAD |
|
|
CA3878190 rs748603035 |
32 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 32 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364791191 rs1232415209 |
32 | T>S | No |
ClinGen gnomAD |
|
|
CA364791200 rs1352747885 |
33 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3878192 rs201982971 |
38 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1697485 rs745590202 CA3878193 |
41 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364791262 rs1190371188 |
43 | S>A | No |
ClinGen gnomAD |
|
|
CA140870673 rs922398016 |
43 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs138295002 CA3878196 |
45 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1279600266 CA364791273 |
45 | S>N | No |
ClinGen gnomAD |
|
|
rs768162498 CA3878197 |
45 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA140870685 rs887013000 |
47 | M>V | No |
ClinGen TOPMed |
|
|
rs1053213266 CA364791299 |
48 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776554503 CA3878198 |
49 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA364791307 rs1454766044 |
50 | K>E | No |
ClinGen gnomAD |
|
|
CA3878200 rs765076325 |
54 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3878201 rs750198649 |
55 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3878203 rs766544449 |
56 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3878204 rs751760529 |
56 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 62 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA140870700 rs755030256 |
63 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3878205 rs755030256 |
63 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3878206 rs781350346 |
65 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA140870710 rs550437781 |
67 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3878207 rs753320287 |
68 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364791430 rs370692793 |
68 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs370692793 CA140870724 |
68 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA140870729 rs200112347 |
69 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756673539 CA364791456 |
72 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878208 rs756673539 |
72 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878209 rs778329171 |
75 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1419997229 CA364791478 |
75 | K>I | No |
ClinGen gnomAD |
|
|
CA364791477 rs1419997229 |
75 | K>R | No |
ClinGen gnomAD |
|
|
CA140870733 rs374203280 |
76 | K>T | No |
ClinGen Ensembl |
|
|
rs76736074 CA3878210 |
77 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771286520 CA364791508 |
79 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364791504 rs1324908078 |
79 | S>T | No |
ClinGen TOPMed |
|
|
rs138036933 CA3878212 |
81 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3878213 rs746606204 |
82 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364791534 rs1375456513 |
83 | F>S | No |
ClinGen gnomAD |
|
|
rs768222706 CA3878214 |
84 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3878216 rs368219587 |
85 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878217 rs534128589 |
86 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 87 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001180827 CA140870760 |
87 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364791556 rs1306265591 |
88 | Y>N | No |
ClinGen gnomAD |
|
|
rs1374555932 CA364791576 |
90 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA140870779 rs267601100 |
94 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA140870778 rs267601100 |
94 | S>Y | No |
ClinGen TOPMed |
|
|
rs377083198 CA3878220 |
97 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774436786 CA3878221 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1031211547 CA140870793 |
99 | K>E | No |
ClinGen Ensembl |
|
|
CA3878225 rs752799769 |
100 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364791648 rs1455973355 |
100 | D>G | No |
ClinGen gnomAD |
|
|
rs767760754 CA3878224 |
100 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1395185534 CA364791661 |
102 | L>F | No |
ClinGen gnomAD |
|
|
rs764728357 CA3878227 |
104 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3878226 rs756724848 |
104 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754321363 CA3878228 |
105 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895562853 COSM1081081 CA140870825 |
106 | H>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA364791697 COSM1081085 rs1462357252 |
108 | I>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3878229 rs757575126 |
109 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA140870829 rs553411317 |
114 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3878230 rs553411317 |
114 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746699209 CA3878231 |
115 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780722343 CA3878233 |
119 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308282622 CA364791790 |
121 | L>P | No |
ClinGen gnomAD |
|
|
CA3878235 rs769247421 |
124 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364791827 rs773040433 |
126 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878236 rs773040433 |
126 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878237 rs749186524 |
128 | I>F | No |
ClinGen ExAC |
|
|
rs770693543 CA3878238 |
130 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs569105003 CA140870897 |
131 | R>C | No |
ClinGen gnomAD |
|
|
rs774179062 CA3878239 |
131 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878240 rs183409987 |
132 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3878241 rs183409987 |
132 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370679978 CA140870908 |
133 | V>G | No |
ClinGen Ensembl |
|
|
rs1421292386 CA364791875 |
134 | F>C | No |
ClinGen gnomAD |
|
|
CA3878242 rs775812711 |
134 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3878243 rs760859094 |
136 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364791922 rs1189737691 |
141 | L>F | No |
ClinGen TOPMed |
|
|
rs1421236891 CA364791918 |
141 | L>S | No |
ClinGen gnomAD |
|
|
CA3878244 rs764176793 |
142 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364791946 rs1461733791 COSM1292359 |
145 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 146 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143488859 CA3878248 |
148 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758724362 CA3878249 |
150 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780848789 CA3878250 |
151 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399656181 CA364791999 |
152 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364792023 rs1337462551 |
155 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364792061 rs1393061693 |
160 | K>N | No |
ClinGen gnomAD |
|
|
CA3878252 rs755630004 |
160 | K>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3949411 CA140870948 rs975878199 |
163 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA364792082 rs1218477736 |
164 | S>G | No |
ClinGen gnomAD |
|
|
rs1561979424 CA364792086 |
164 | S>N | No |
ClinGen Ensembl |
|
|
CA364792094 rs1485879875 |
165 | Q>H | No |
ClinGen gnomAD |
|
|
CA3878254 rs749238022 |
165 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3878255 rs576269414 |
166 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA140870955 rs772177600 |
169 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs137977887 CA3878257 |
169 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772177600 CA140870954 |
169 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA140870977 rs912602085 |
170 | V>A | No |
ClinGen TOPMed |
|
|
CA140870971 rs985419116 |
170 | V>L | No |
ClinGen TOPMed |
|
|
CA140870979 COSM484296 rs773353712 |
172 | C>R | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs148606686 CA3878258 |
173 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1582090252 CA364792161 |
176 | E>Q | No |
ClinGen Ensembl |
|
|
CA140870996 rs141387909 |
177 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs1296641360 CA364792219 |
183 | N>K | No |
ClinGen gnomAD |
|
|
CA364792224 rs1357592122 |
184 | G>E | No |
ClinGen gnomAD |
|
|
CA364792230 rs762265433 |
185 | R>I | No |
ClinGen ExAC gnomAD |
|
|
COSM451731 rs762265433 CA3878263 |
185 | R>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA140871041 rs760945188 |
186 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3878264 rs766666194 |
187 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3878265 rs750878276 |
189 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364792261 rs1285526019 |
190 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1294698851 CA364792272 |
192 | M>V | No |
ClinGen gnomAD |
|
|
rs1317031265 CA364792289 |
194 | T>A | No |
ClinGen gnomAD |
|
|
CA364792313 rs1360751573 |
197 | T>S | No |
ClinGen TOPMed |
|
|
CA140871063 rs150799777 |
198 | C>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364792318 rs1561979485 |
198 | C>G | No |
ClinGen Ensembl |
|
|
rs150799777 CA140871054 |
198 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA140871067 rs894110065 |
199 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 199 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188135637 CA364792338 |
201 | H>L | No |
ClinGen gnomAD |
|
|
CA364792335 rs1486443622 |
201 | H>N | No |
ClinGen gnomAD |
|
|
rs1236707604 CA364792350 |
203 | G>R | No |
ClinGen gnomAD |
|
|
CA3878267 rs766660272 |
205 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878269 rs370217035 |
206 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3878268 rs752408837 |
206 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 207 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364792387 rs1156926852 |
208 | D>G | No |
ClinGen gnomAD |
|
|
rs1257791999 CA364792395 |
209 | D>G | No |
ClinGen gnomAD |
|
|
rs1338093306 CA364792413 |
211 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364792425 rs1209857060 |
213 | I>M | No |
ClinGen TOPMed |
|
|
CA364792429 rs1273824934 |
214 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756684296 CA3878272 |
218 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364792479 rs1561979520 |
221 | P>L | No |
ClinGen Ensembl |
|
|
CA364792486 rs1241659427 |
223 | N>D | No |
ClinGen TOPMed |
|
|
rs1333695339 CA364792492 |
223 | N>K | No |
ClinGen gnomAD |
|
|
rs1350920891 CA364792497 |
224 | E>V | No |
ClinGen TOPMed |
|
|
rs778933662 CA3878273 |
228 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1308443705 CA364792533 |
229 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 232 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031137960 CA140871115 |
233 | E>K | No |
ClinGen Ensembl |
|
|
CA364792569 rs1200709786 |
235 | Q>* | No |
ClinGen gnomAD |
|
|
rs776675554 CA3878279 |
238 | Q>H | No |
ClinGen ExAC |
|
|
rs1561979554 CA364792591 |
238 | Q>R | No |
ClinGen Ensembl |
|
|
CA364792597 rs1345987876 |
239 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 241 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364792614 rs1160722457 |
241 | N>K | No |
ClinGen TOPMed |
|
|
CA364792627 rs1440540070 |
243 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379823336 CA364792656 |
247 | K>N | No |
ClinGen TOPMed |
|
|
rs773710161 CA3878282 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878283 rs763442231 |
250 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA3878285 rs751903233 |
251 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364792677 rs1454733076 |
251 | K>R | No |
ClinGen gnomAD |
|
|
CA364792675 rs1454733076 |
251 | K>T | No |
ClinGen gnomAD |
|
|
rs749921139 CA3878310 |
256 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA141069251 rs1019025682 |
257 | M>V | No |
ClinGen Ensembl |
|
|
rs867384235 CA141069255 |
258 | G>E | No |
ClinGen Ensembl |
|
|
CA364793277 rs1317110929 |
264 | S>T | No |
ClinGen gnomAD |
|
|
CA3878312 rs766440074 |
266 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs140095141 CA364793301 |
268 | R>L | No |
ClinGen ESP gnomAD |
|
|
rs140095141 CA141069266 |
268 | R>Q | No |
ClinGen ESP gnomAD |
|
|
CA141069268 rs971919185 |
269 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA141069294 rs144283437 |
272 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751392718 CA3878314 |
272 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3878313 rs751392718 |
272 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265372478 CA364793328 |
273 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 273 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 274 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878316 rs748456125 |
274 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364793339 rs1194691556 |
274 | R>S | No |
ClinGen gnomAD |
|
|
CA364793337 rs748456125 |
274 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1477081846 CA364793352 |
276 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3878317 rs756271903 |
280 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3878318 rs777874749 |
281 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 285 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA141069305 rs930591409 CA364793424 |
286 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 289 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364793460 rs1193832023 |
290 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364793475 rs1562092563 |
292 | S>C | No |
ClinGen Ensembl |
|
|
CA3878341 rs780568593 |
293 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs747355273 CA3878342 |
294 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3878343 rs769081359 |
296 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs773000989 CA3878344 |
296 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs773000989 CA364793497 |
296 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA364793506 rs1253366725 |
297 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458610101 CA364793524 |
300 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762686616 CA3878345 |
301 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA364793535 rs1165831293 |
301 | S>R | No |
ClinGen TOPMed |
|
|
rs770620499 CA3878346 |
303 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs773707304 CA3878347 |
304 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 309 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759563053 CA364793602 |
311 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759563053 CA3878348 |
311 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878351 rs752634970 |
314 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3878350 rs752634970 |
314 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3878352 rs763811697 |
314 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364793662 rs1236563383 COSM212409 |
321 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA141072495 rs756681770 |
321 | P>S | No |
ClinGen gnomAD |
|
|
CA3878353 rs754128610 CA364793671 |
323 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA364793686 rs1286692665 |
325 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA141072510 rs946836850 |
327 | S>T | No |
ClinGen TOPMed |
|
|
rs145733293 CA3878354 |
328 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322900142 CA364793744 |
334 | R>G | No |
ClinGen TOPMed |
|
|
CA141072541 COSM1180096 rs953278603 |
334 | R>S | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3878355 rs779099320 |
335 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779099320 CA364793751 |
335 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364793758 rs1384226967 |
336 | C>Y | No |
ClinGen gnomAD |
|
|
CA364793767 rs1192427623 |
337 | N>S | No |
ClinGen gnomAD |
|
|
CA141072558 rs939108810 |
340 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs939108810 CA364793785 |
340 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 346 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765400018 CA3878373 |
346 | G>R | No |
ClinGen ExAC |
|
| TCGA novel | 351 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364794317 rs1456428256 |
352 | S>L | No |
ClinGen gnomAD |
|
|
rs758411451 CA3878375 |
360 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200386736 CA364794389 |
363 | R>* | No |
ClinGen gnomAD |
|
|
CA141076874 rs200386736 |
363 | R>G | No |
ClinGen gnomAD |
|
|
rs1357705446 CA364794396 |
364 | G>D | No |
ClinGen gnomAD |
|
|
CA364794398 rs1357705446 |
364 | G>V | No |
ClinGen gnomAD |
|
|
rs908237410 CA141076883 |
367 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 368 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218729854 CA364794439 |
371 | S>T | No |
ClinGen gnomAD |
|
|
rs201804096 CA3878378 |
374 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 374 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364794469 rs1322415049 |
375 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 377 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364794499 rs1238641302 |
380 | R>K | No |
ClinGen gnomAD |
|
|
rs748557992 CA3878380 |
380 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3878381 rs148926519 |
381 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 381 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364794519 rs1412947820 |
383 | E>* | No |
ClinGen gnomAD |
|
|
rs745461222 CA3878383 |
387 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3878384 rs771549913 |
387 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774970282 CA364794564 |
389 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576478884 CA141076956 |
390 | K>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 391 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364794598 rs1296540085 |
394 | I>T | No |
ClinGen gnomAD |
|
|
rs371587255 CA3878388 |
396 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878390 rs765014024 |
398 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA364794648 rs1275976163 |
400 | D>G | No |
ClinGen TOPMed |
|
|
CA3878407 rs143634200 |
402 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878408 rs143634200 |
402 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364794665 rs1325616615 |
403 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1466384468 CA364794683 |
405 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878410 COSM1081103 rs766735540 |
408 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3878415 rs142610251 |
411 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364794738 rs1425886431 |
412 | C>Y | No |
ClinGen TOPMed |
|
|
CA364794751 rs1582346421 |
414 | V>E | No |
ClinGen Ensembl |
|
|
rs764416820 CA3878416 |
414 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878417 rs200369422 |
415 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3878419 rs779693752 |
417 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM93940 CA141085818 rs751146352 |
420 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3878420 rs751146352 |
420 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 421 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs913630299 CA141085820 |
421 | Q>R | No |
ClinGen TOPMed |
|
|
CA364794807 rs1172076680 |
423 | R>K | No |
ClinGen gnomAD |
|
|
rs1306437601 CA364794813 |
424 | S>G | No |
ClinGen TOPMed |
|
|
CA141085836 rs563138195 |
424 | S>N | No |
ClinGen Ensembl |
|
|
rs748082885 COSM1445635 CA3878423 |
425 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA364794828 rs1326284909 |
426 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878425 rs777527910 |
428 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs186013318 CA141085846 |
429 | A>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs572642080 CA3878426 |
431 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364794860 rs774724344 |
432 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759836946 CA3878429 |
432 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364794863 rs1317229344 |
432 | H>R | No |
ClinGen gnomAD |
|
|
rs774724344 CA3878428 |
432 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416105213 CA364794886 |
436 | E>A | No |
ClinGen Ensembl |
|
|
rs141698131 CA141085860 COSM3430831 |
436 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs775619292 CA3878431 |
437 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | C>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375281252 CA141085865 |
438 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA3878432 rs201246905 |
439 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1245179033 CA364794910 |
440 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA141085877 rs377276158 |
442 | A>S | No |
ClinGen ESP gnomAD |
|
|
CA364794925 rs377276158 |
442 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs764693292 CA3878433 |
446 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364794985 rs1423273989 |
450 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA364794986 rs1423273989 |
450 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3878434 rs754240070 |
451 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1165467222 CA364794996 |
451 | E>D | No |
ClinGen gnomAD |
|
|
CA3878453 rs765638808 |
455 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773530608 CA3878454 |
456 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs138576286 CA141086203 |
457 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1298384518 CA364795062 |
459 | N>T | No |
ClinGen gnomAD |
|
|
CA364795079 COSM4161311 rs1376684053 |
461 | W>* | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs767219389 CA3878456 |
462 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA364795091 rs1311619699 |
463 | H>R | No |
ClinGen TOPMed |
|
|
CA3878457 rs752230002 |
465 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755657156 CA3878458 |
467 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1582347090 CA364795123 |
467 | C>W | No |
ClinGen Ensembl |
|
|
CA364795127 rs1167517276 |
468 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3878459 rs763509415 |
471 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763509415 CA364795147 |
471 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364795162 rs1243886166 |
473 | G>D | No |
ClinGen gnomAD |
|
|
CA3878462 rs778893152 COSM1173251 |
474 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1582347114 CA364795183 |
476 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 477 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364795189 rs1241203992 |
477 | R>K | No |
ClinGen gnomAD |
|
|
rs1485131142 CA364795196 |
478 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1208677173 CA364795202 |
479 | I>K | No |
ClinGen TOPMed |
|
|
rs1255428600 CA364795199 |
479 | I>L | No |
ClinGen TOPMed |
|
|
CA364795214 rs1202543365 |
481 | T>A | No |
ClinGen gnomAD |
|
|
CA364795216 rs1257226873 |
481 | T>I | No |
ClinGen gnomAD |
|
|
CA364795215 rs1202543365 |
481 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364795234 rs1582347163 |
483 | Q>H | No |
ClinGen Ensembl |
|
|
CA3878465 rs150114074 |
484 | G>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA364795250 rs1348197831 |
486 | V>A | No |
ClinGen TOPMed |
|
|
rs1182235987 CA364795247 |
486 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1382883362 CA364795258 |
487 | I>M | No |
ClinGen gnomAD |
|
|
CA3878466 rs79063069 |
488 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs79063069 CA141086250 |
488 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1362843681 CA364795265 |
489 | G>E | No |
ClinGen gnomAD |
|
|
rs768838826 CA3878467 |
489 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364795281 rs1174110707 |
491 | Q>R | No |
ClinGen gnomAD |
|
|
CA141086274 rs900295324 |
492 | C>Y | No |
ClinGen gnomAD |
|
|
CA3878468 rs776550830 |
493 | E>K | No |
ClinGen ExAC |
|
|
rs1395406004 CA364795301 |
494 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs113677156 CA3878471 |
495 | T>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766589399 CA3878473 |
496 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364795314 rs549905059 COSM337986 |
497 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs549905059 COSM134137 CA3878475 |
497 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3878476 rs763713067 |
498 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs373283258 CA3878477 |
500 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878478 rs756788045 |
501 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1932618 CA364795365 |
503 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1932618 CA3878479 VAR_046525 |
503 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1932618 CA364795362 |
503 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1415820951 CA364795377 |
504 | E>A | No |
ClinGen TOPMed |
|
|
CA3878480 rs750329964 |
504 | E>K | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364795391 rs1249130276 |
505 | Q>P | No |
ClinGen gnomAD |
|
|
COSM195002 rs1416953235 CA364795400 |
506 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA364795408 rs1004615310 |
506 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1004615310 CA141086373 COSM743311 |
506 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA364795447 rs1469083346 |
509 | A>T | No |
ClinGen gnomAD |
|
|
rs144426334 CA3878504 |
510 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878503 COSM317042 rs140623029 |
510 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 511 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752846303 CA3878506 |
515 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364792762 rs1219739676 |
517 | D>N | No |
ClinGen gnomAD |
|
|
CA3878507 rs756256146 |
518 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1185907038 CA364792783 |
520 | M>L | No |
ClinGen gnomAD |
|
|
rs771314715 CA3878510 |
521 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878509 rs749847915 |
521 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3878513 rs772425205 |
522 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs746241352 CA141103250 |
522 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs746241352 CA3878512 |
522 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA141103251 rs894671098 |
523 | V>M | No |
ClinGen TOPMed |
|
|
rs370868468 CA3878514 |
525 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364792818 rs1361619191 |
525 | K>R | No |
ClinGen gnomAD |
|
|
COSM1081113 rs968821820 CA141103252 |
526 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761542399 CA3878515 |
527 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754590524 CA3878516 |
528 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364792833 rs1462521834 |
528 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762484932 CA3878518 |
529 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1287695946 CA364792848 |
530 | G>D | No |
ClinGen gnomAD |
|
|
rs1243373229 CA364792843 |
530 | G>S | No |
ClinGen gnomAD |
|
|
rs767292207 CA3878522 |
531 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364792863 rs1240074207 |
533 | A>T | No |
ClinGen gnomAD |
|
|
rs752977191 CA3878523 |
534 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292730859 CA364792878 |
535 | N>D | No |
ClinGen TOPMed |
|
|
CA364792880 rs1213488290 |
535 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 537 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304575172 CA364792903 |
538 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1160740699 CA364792917 |
540 | N>K | No |
ClinGen gnomAD |
|
|
CA364792924 rs1402764360 |
541 | A>V | No |
ClinGen TOPMed |
|
|
rs1582363825 CA364792950 |
544 | T>P | No |
ClinGen Ensembl |
|
|
CA141103288 rs993127010 |
545 | T>S | No |
ClinGen TOPMed |
|
|
CA3878551 rs777291466 |
548 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369343391 CA3878552 |
548 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs369343391 CA364792978 |
548 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770403057 CA3878553 |
551 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs375950923 CA3878554 |
552 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562107180 CA364793017 |
554 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 555 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364793028 rs1199148325 |
556 | V>A | No |
ClinGen gnomAD |
|
|
rs986935684 CA364793025 |
556 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs986935684 CA141103289 |
556 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs887478720 CA141103290 |
557 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA364793033 rs887478720 |
557 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 557 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912729133 CA141103291 |
558 | F>S | No |
ClinGen Ensembl |
|
|
CA3878556 rs772031777 |
560 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260589603 CA364793053 |
560 | E>K | No |
ClinGen TOPMed |
|
|
rs1222855233 CA364793059 |
561 | Q>E | No |
ClinGen TOPMed |
|
|
CA141103292 rs775361384 |
562 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3878557 rs775361384 |
562 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763810312 CA3878559 |
565 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA364793097 CA364793096 rs1351262886 |
566 | R>S | No |
ClinGen gnomAD |
|
|
CA364793110 rs1582363909 |
568 | I>T | No |
ClinGen Ensembl |
|
|
CA3878560 rs558638503 |
568 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 569 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364793112 rs1343369494 |
569 | S>T | No |
ClinGen gnomAD |
|
|
CA364793126 rs1220441226 |
571 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3878562 rs765271056 |
573 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3878564 rs368640990 |
574 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229723748 CA364793172 |
577 | H>Y | No |
ClinGen TOPMed |
|
|
rs773250653 CA3878581 CA364793846 |
581 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364793850 rs1483508636 |
582 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 583 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA141105335 rs1029305281 |
583 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763125754 CA364793860 |
584 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763125754 CA3878582 |
584 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364793875 rs1356361440 COSM1546933 |
586 | G>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1290380941 CA364793888 |
588 | R>* | No |
ClinGen gnomAD |
|
|
rs369405391 CA3878584 COSM230591 |
588 | R>Q | Variant assessed as Somatic; 4.63e-05 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3878586 rs767814746 |
589 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3878588 rs756388523 |
590 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3878589 COSM597291 rs373248973 |
591 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3878590 rs529174212 |
591 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3878592 rs140754081 |
592 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3878591 rs140754081 |
592 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1380485443 CA364793919 |
594 | G>R | No |
ClinGen gnomAD |
|
|
CA364793944 rs1234614168 |
597 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3878594 rs768667380 |
599 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA141105337 rs935958493 |
599 | T>S | No |
ClinGen TOPMed |
|
|
rs1451989800 CA364793970 |
601 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA364793988 rs1379412464 |
604 | D>G | No |
ClinGen gnomAD |
|
|
rs1239973209 CA364794003 |
606 | T>S | No |
ClinGen gnomAD |
|
|
rs1348947635 CA364794009 |
607 | Q>R | No |
ClinGen gnomAD |
|
|
rs747988050 COSM1081119 CA364794016 |
608 | R>I | Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747988050 CA3878596 |
608 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 610 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769407836 CA3878597 |
610 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs142372047 CA3878598 |
612 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM743308 rs142372047 CA3878599 |
612 | Y>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1240660215 CA364794048 |
613 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 614 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774544538 CA3878601 |
614 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA364794059 rs1363049892 |
615 | D>N | No |
ClinGen gnomAD |
|
|
CA141105339 rs906648211 |
618 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764361758 CA3878606 |
618 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750135237 CA364794089 |
619 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs750135237 CA3878607 |
619 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA141105340 rs967974025 COSM77328 |
621 | E>D | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1259195497 CA364794105 |
622 | I>F | No |
ClinGen TOPMed |
|
|
COSM1445642 rs765527940 CA141105341 |
624 | R>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA364794121 rs1306536362 |
625 | N>H | No |
ClinGen gnomAD |
|
|
rs1334418999 CA364794133 |
626 | V>A | No |
ClinGen gnomAD |
|
|
CA3878608 rs758025679 |
627 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765974548 CA3878609 |
629 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323476256 CA364794151 |
629 | T>I | No |
ClinGen gnomAD |
|
|
CA364794177 rs921122129 |
633 | A>S | No |
ClinGen TOPMed |
|
|
CA141105342 rs921122129 |
633 | A>T | No |
ClinGen TOPMed |
|
|
rs751091128 CA3878610 |
634 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364794184 rs1232046792 |
634 | S>T | No |
ClinGen TOPMed |
|
|
rs376892126 CA141105343 |
635 | Y>H | No |
ClinGen ESP TOPMed |
|
|
rs781194186 CA3878612 |
636 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364794199 rs781194186 |
636 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364794201 rs1249363127 |
637 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3878614 rs755991029 |
640 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777686252 CA3878615 |
640 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3878616 rs749560178 |
641 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775880820 CA141107764 |
644 | N>D | No |
ClinGen Ensembl |
|
|
CA364795401 rs1303949128 |
646 | F>L | No |
ClinGen gnomAD |
|
|
rs1291211746 CA364795429 |
648 | I>M | No |
ClinGen gnomAD |
|
|
CA364795426 rs1403475772 |
648 | I>T | No |
ClinGen gnomAD |
|
|
rs371473626 CA3878629 |
648 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878630 rs754582738 |
650 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 651 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294270543 CA364795465 |
651 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3878631 rs766919622 |
651 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752726834 CA3878632 |
653 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 655 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278418803 CA364795513 |
658 | K>R | No |
ClinGen gnomAD |
|
|
CA364795522 rs1234005639 |
659 | E>D | No |
ClinGen TOPMed |
|
|
CA141107765 rs573044070 |
659 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA364795558 rs1292031281 |
664 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1292031281 CA364795557 |
664 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1582394533 CA364795560 |
664 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 665 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752178634 CA3878652 |
667 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs752178634 CA3878651 |
667 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1271881906 CA364795622 |
671 | S>L | No |
ClinGen gnomAD |
|
|
rs1469343868 CA364795628 |
672 | I>M | No |
ClinGen TOPMed |
|
|
CA3878654 rs201931731 |
672 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757185927 CA3878655 |
673 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA364795630 rs1258883783 |
673 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3878656 COSM1081127 rs778842222 |
675 | M>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750710977 CA3878657 |
676 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA364795668 rs368472196 |
678 | I>N | No |
ClinGen ESP ExAC |
|
|
CA3878658 rs368472196 |
678 | I>T | No |
ClinGen ESP ExAC |
|
| TCGA novel | 679 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878660 rs747071062 |
681 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs768652552 CA3878661 |
682 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364795703 rs1582397460 |
683 | H>R | No |
ClinGen Ensembl |
|
|
rs1418847510 CA364795701 |
683 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 684 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781711035 CA3878662 |
684 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425978423 CA364795722 |
686 | G>E | No |
ClinGen TOPMed |
|
|
CA364795733 rs1470554633 CA364795731 |
687 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1408945043 CA364795727 |
687 | M>V | No |
ClinGen gnomAD |
|
|
rs748636545 CA3878663 |
688 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364795744 rs1445416478 CA364795746 |
689 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770192198 CA3878664 |
689 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 690 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465751039 CA364795748 |
690 | M>V | No |
ClinGen TOPMed |
|
|
rs1280907722 CA364795760 |
691 | D>G | No |
ClinGen gnomAD |
|
|
CA364795758 rs1269419402 |
691 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 694 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537609691 CA3878665 |
694 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3878666 rs763335000 |
696 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1325607293 CA364795801 |
697 | L>V | No |
ClinGen gnomAD |
|
|
rs775152589 CA3878668 |
698 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 703 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364796190 rs768335457 |
705 | S>C | No |
ClinGen ExAC |
|
|
CA3878699 rs768335457 |
705 | S>G | No |
ClinGen ExAC |
|
|
rs200922941 CA3878700 |
705 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761370609 CA3878702 CA3878701 |
705 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs773132812 CA3878703 |
706 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1582421059 CA364796213 |
707 | Q>* | No |
ClinGen Ensembl |
|
|
CA3878704 rs762720627 |
707 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562136904 CA364796254 |
710 | P>H | No |
ClinGen Ensembl |
|
|
CA364796266 rs1396652076 |
711 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1360705070 CA364796279 |
712 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA141111994 rs910190011 |
714 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 715 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751825435 CA364796344 |
718 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751825435 CA3878706 |
718 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878707 rs755162239 |
720 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364796385 rs1242236635 COSM597287 |
721 | P>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA364796402 rs1333422704 |
722 | M>R | No |
ClinGen gnomAD |
|
|
rs767686440 CA3878708 |
722 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384012846 CA364796427 |
724 | G>R | No |
ClinGen TOPMed |
|
|
rs756162987 CA3878710 |
724 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778148344 CA3878711 |
725 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162716973 CA364796440 |
725 | R>W | No |
ClinGen gnomAD |
|
|
rs749799290 CA3878712 |
726 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs757620134 CA3878713 |
729 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3878717 rs768458036 |
730 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs147658947 CA3878715 |
730 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147658947 CA3878716 |
730 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA141111995 rs974030214 |
732 | A>S | No |
ClinGen Ensembl |
|
|
rs776376254 CA3878718 COSM451732 |
737 | D>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3878720 rs769339673 |
738 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284175832 CA364796608 |
738 | R>K | No |
ClinGen gnomAD |
|
|
COSM301741 CA364796613 rs1463882498 |
738 | R>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs913849726 CA141111996 |
739 | V>A | No |
ClinGen TOPMed |
|
|
rs1443931619 CA364796619 |
739 | V>L | No |
ClinGen gnomAD |
|
|
CA364796652 rs1244391411 |
742 | P>T | No |
ClinGen gnomAD |
|
|
CA364796662 rs1562136997 |
743 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 744 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878721 rs371384745 |
744 | S>N | No |
ClinGen ESP ExAC |
|
|
CA3878722 rs762921142 COSM195018 |
744 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA567933574 rs1186358067 |
745 | I>N | No |
ClinGen gnomAD |
|
|
rs1159146652 CA364796731 |
747 | T>I | No |
ClinGen gnomAD |
|
|
CA3878724 rs774373176 |
747 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1159146652 CA364796729 |
747 | T>S | No |
ClinGen gnomAD |
|
|
CA3878725 rs766127080 |
748 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 748 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878727 rs759276122 |
749 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA364796757 rs1452245172 |
751 | S>L | No |
ClinGen gnomAD |
|
|
rs1406871050 CA364796752 |
751 | S>T | No |
ClinGen gnomAD |
|
|
CA364796786 rs1481939036 |
753 | E>D | No |
ClinGen gnomAD |
|
|
rs1297260007 COSM1445645 CA364796798 |
755 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM22119 rs267601102 CA141112100 |
755 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3878748 rs775747641 |
756 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA364796813 rs1174071293 |
757 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs371427666 CA3878749 |
757 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878751 rs142662373 |
762 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA3878755 COSM597286 rs112866971 |
764 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs112866971 CA3878754 |
764 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364796853 rs1369152416 |
764 | A>V | No |
ClinGen gnomAD |
|
|
RCV000736204 rs1562137453 CA364796859 |
765 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs780540576 CA3878756 |
768 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3878759 COSM1445646 rs755820853 |
770 | L>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1057198581 CA141112101 |
771 | D>E | No |
ClinGen Ensembl |
|
|
rs866124184 CA141112102 |
775 | P>S | No |
ClinGen Ensembl |
|
|
rs770359764 CA3878761 |
776 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778889856 CA3878762 |
776 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA364796936 rs1339886994 |
777 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 778 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342567208 CA364797421 |
779 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs768272982 CA3878790 |
781 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748355648 CA3878792 |
786 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454291633 CA364797470 |
787 | I>V | No |
ClinGen gnomAD |
|
|
CA141113769 rs573753767 |
789 | V>A | No |
ClinGen Ensembl |
|
|
rs373836331 CA3878794 |
789 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3878795 rs201574042 |
790 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1441665149 CA364797490 |
790 | V>G | No |
ClinGen TOPMed |
|
|
rs201574042 CA3878796 |
790 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3878797 rs200880604 |
792 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3878798 rs760010499 |
793 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs753578195 CA3878801 CA3878800 |
795 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237114965 CA364797536 |
798 | T>A | No |
ClinGen gnomAD |
|
|
CA3878804 rs757849984 |
799 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs901735948 CA141113771 |
799 | T>P | No |
ClinGen Ensembl |
|
|
rs754848273 CA3878807 |
800 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754848273 CA3878808 |
800 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3878809 rs747907463 |
801 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1081134 CA3878810 rs747907463 |
801 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3878814 rs770909862 |
804 | E>G | No |
ClinGen ExAC |
|
|
CA3878813 rs749382708 |
804 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774979131 CA364797574 CA3878815 |
805 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774979131 COSM1445647 CA141113772 |
805 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1299700751 CA364797586 |
806 | E>D | No |
ClinGen gnomAD |
|
|
CA3878817 rs563549811 |
808 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375871798 CA3878818 |
809 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364797601 rs1275439015 |
809 | H>R | No |
ClinGen gnomAD |
|
|
rs1380903186 CA364797607 |
810 | L>S | No |
ClinGen TOPMed |
|
|
CA364797616 rs1414008410 |
811 | A>V | No |
ClinGen TOPMed |
|
|
rs1398214571 CA364797639 |
813 | G>D | No |
ClinGen TOPMed |
|
|
CA3878843 rs751049558 |
813 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1348279274 CA364797654 |
815 | L>F | No |
ClinGen gnomAD |
|
|
CA3878844 rs759025131 |
816 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA364797667 rs1298342083 |
817 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767360865 CA3878845 |
818 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878846 rs752674997 |
820 | V>I | No |
ClinGen ExAC |
|
|
rs1357472709 CA364797696 |
822 | W>R | No |
ClinGen gnomAD |
|
|
rs777688268 CA3878848 |
823 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754154623 CA3878849 |
824 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 826 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757595163 CA3878850 |
827 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141134374 rs929926249 |
829 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767610095 CA3878913 |
830 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs767610095 CA3878914 |
830 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3878916 rs778094899 |
835 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 835 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 836 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754269130 CA3878917 |
838 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs757631514 COSM1445650 CA3878918 |
841 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1054313893 CA141134376 |
843 | L>P | No |
ClinGen TOPMed |
|
|
CA364796380 rs1331850598 |
843 | L>V | No |
ClinGen TOPMed |
|
|
rs984078313 CA141134377 |
844 | T>I | No |
ClinGen TOPMed |
|
|
rs1389731779 CA364796403 |
845 | D>Y | No |
ClinGen TOPMed |
|
|
CA3878919 rs370387606 |
848 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368640853 CA364796460 |
849 | T>M | No |
ClinGen TOPMed |
|
|
CA3878922 rs373759524 |
852 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3878923 rs367970952 |
854 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937186875 CA364796524 |
854 | D>H | No |
ClinGen TOPMed |
|
|
rs937186875 CA141134379 |
854 | D>N | No |
ClinGen TOPMed |
|
|
CA3878924 rs769780063 |
855 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs895629058 CA364796550 |
856 | L>F | No |
ClinGen Ensembl |
|
|
CA141134380 rs895629058 |
856 | L>I | No |
ClinGen Ensembl |
|
|
CA3878928 rs762799562 |
857 | S>C | No |
ClinGen ExAC |
|
|
CA3878927 rs772954271 |
857 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1185060670 CA364796571 |
858 | T>A | No |
ClinGen gnomAD |
|
|
rs770698689 CA3878929 |
859 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 863 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA141134381 rs199814832 |
864 | Q>L | No |
ClinGen gnomAD |
|
|
CA364796656 rs199814832 |
864 | Q>R | No |
ClinGen gnomAD |
|
|
CA3878931 rs541023902 |
865 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364796677 rs1267423548 |
866 | P>S | No |
ClinGen gnomAD |
|
|
CA364796688 rs1415869667 |
867 | R>G | No |
ClinGen gnomAD |
|
|
rs767594077 CA3878932 |
867 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA141134382 rs906509004 |
868 | E>K | No |
ClinGen TOPMed |
|
|
COSM93944 CA364796722 rs1273133066 |
869 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs61747010 CA3878956 |
870 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3878955 rs61747010 |
870 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 871 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 872 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364796981 rs1172908365 |
873 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364796991 rs1452631834 |
875 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA141134550 rs906842937 |
876 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364797002 rs1198594350 |
877 | P>L | No |
ClinGen TOPMed |
|
|
CA364797003 rs1198594350 |
877 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs370048348 CA3878958 |
882 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364797049 rs1466891174 |
885 | S>N | No |
ClinGen gnomAD |
|
|
CA364797076 rs1201847983 |
889 | C>S | No |
ClinGen TOPMed |
|
|
rs61754116 CA3878959 |
891 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364797098 CA364797097 rs1390624035 |
892 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs371733992 CA141134551 |
896 | A>E | No |
ClinGen ESP |
|
|
CA3878960 rs758619584 |
896 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1405837328 CA364797131 |
898 | V>A | No |
ClinGen gnomAD |
|
|
CA3878963 rs376669265 |
899 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3878964 rs777233417 |
900 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3878965 rs748755300 |
900 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1364642905 CA364797144 |
901 | A>T | No |
ClinGen gnomAD |
|
|
CA3878966 rs757208081 |
902 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA141134552 rs867684977 |
904 | R>G | No |
ClinGen Ensembl |
|
|
CA3878967 rs141184222 |
904 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 905 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364797190 rs1433115358 |
906 | I>L | No |
ClinGen Ensembl |
|
|
COSM1568284 CA3878985 rs145280281 |
907 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371369769 CA141135010 |
907 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs145280281 CA364797198 |
907 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349552279 CA364797213 |
909 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA364797222 rs1202978392 |
911 | S>T | No |
ClinGen gnomAD |
|
|
CA141135012 rs929824447 |
912 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA364797231 rs1280537361 |
912 | I>T | No |
ClinGen gnomAD |
|
|
rs918427858 CA141135011 |
912 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1081138 rs1186877223 CA364797233 |
913 | I>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746274970 CA3878986 |
913 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1473503523 CA364797240 |
914 | L>V | No |
ClinGen gnomAD |
|
|
CA141135014 rs769858570 |
917 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 920 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746782120 CA3878989 |
921 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779684954 CA3878988 |
921 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 927 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3878991 rs776922083 |
928 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1407648046 CA364797335 |
928 | I>M | No |
ClinGen TOPMed |
|
|
rs1410939505 CA364797339 |
929 | L>P | No |
ClinGen gnomAD |
|
|
CA3878993 rs769977974 |
930 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371189585 CA3878994 |
931 | G>A | No |
ClinGen ESP ExAC |
|
| TCGA novel | 932 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364797364 rs1236510888 |
933 | T>I | No |
ClinGen gnomAD |
|
|
CA141135016 rs1046627138 |
934 | Q>R | No |
ClinGen TOPMed |
|
|
CA141135017 rs575765174 |
935 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 937 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364797389 rs1561962885 |
937 | N>S | No |
ClinGen Ensembl |
|
|
rs763335525 CA3878995 |
938 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs924824676 CA141145127 |
939 | S>I | No |
ClinGen Ensembl |
|
|
rs770031200 CA3879011 |
944 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3879013 rs749339565 |
946 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 950 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 951 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191967452 CA364799503 |
952 | F>S | No |
ClinGen gnomAD |
|
|
CA3879014 rs771355385 |
955 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 955 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371872262 CA364799548 |
959 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364799555 rs1459861231 |
960 | L>V | No |
ClinGen gnomAD |
|
|
CA364799579 COSM195109 rs1394549289 |
963 | A>V | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA141145129 rs982079559 |
966 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1366833446 CA364799605 |
967 | Y>H | No |
ClinGen gnomAD |
|
|
CA364799616 rs1224665502 |
968 | M>I | No |
ClinGen gnomAD |
|
|
CA3879017 rs772413368 |
968 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1294529880 CA364799629 |
970 | V>A | No |
ClinGen gnomAD |
|
|
CA364799625 rs1443019738 |
970 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364799669 rs1582632900 |
976 | T>I | No |
ClinGen Ensembl |
|
|
rs374356976 CA3879019 |
977 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364799693 rs1276134829 |
980 | R>S | No |
ClinGen gnomAD |
|
|
CA364799703 rs1259624904 |
982 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 988 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749926857 CA3879021 |
989 | G>C | No |
ClinGen ExAC |
|
|
CA364799776 rs1484439917 |
990 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 991 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769348404 CA3879037 |
992 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1256724736 CA364799799 |
994 | V>A | No |
ClinGen TOPMed |
|
|
rs1418456599 CA364799797 |
994 | V>L | No |
ClinGen TOPMed |
|
|
rs1185203654 CA364799860 |
1004 | T>S | No |
ClinGen gnomAD |
|
|
rs1413497432 CA364799912 |
1011 | H>Q | No |
ClinGen gnomAD |
|
|
rs1386569056 CA364800211 |
1015 | L>P | No |
ClinGen TOPMed |
|
|
CA364800239 COSM138569 rs1441584665 |
1020 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3879058 rs770444048 |
1021 | L>I | No |
ClinGen ExAC |
|
|
rs1303199360 CA364800281 |
1026 | V>A | No |
ClinGen gnomAD |
|
|
rs1303199360 CA364800282 |
1026 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1031 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775555129 CA364800307 |
1031 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775555129 CA3879062 |
1031 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1036 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364800356 rs1233136432 |
1037 | M>V | No |
ClinGen gnomAD |
|
|
rs778652107 CA3879084 |
1039 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1040 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031555745 CA141145994 |
1042 | L>V | No |
ClinGen TOPMed |
|
|
rs1213704191 CA364800413 |
1045 | N>S | No |
ClinGen gnomAD |
|
|
rs771704156 CA3879086 |
1052 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775608160 CA364800498 |
1057 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1057 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760637883 CA3879088 |
1060 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242459370 CA364800517 |
1060 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1061 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1061 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1063 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988832091 CA141145995 |
1063 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM138570 rs530085871 CA3879108 |
1065 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA364800997 rs1410941824 |
1065 | M>L | No |
ClinGen TOPMed |
|
|
CA364800996 rs1410941824 |
1065 | M>V | No |
ClinGen TOPMed |
|
|
CA364801019 rs769568957 |
1068 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141146702 rs769568957 |
1068 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879110 rs769568957 |
1068 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1069 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA141146703 rs370985736 |
1069 | H>Y | No |
ClinGen ESP |
|
|
CA141146704 rs766550347 |
1071 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM1568283 CA3879112 rs74732221 |
1071 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3879113 rs766550347 |
1071 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM1445655 CA3879114 rs376079687 |
1073 | T>M | Variant assessed as Somatic; 0.0 impact. liver large_intestine stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364801075 rs1240831517 |
1077 | A>T | No |
ClinGen gnomAD |
|
|
CA141146706 rs985535459 |
1077 | A>V | No |
ClinGen Ensembl |
|
|
CA3879115 rs759478038 |
1078 | K>E | No |
ClinGen ExAC |
|
|
CA3879116 rs768129595 |
1078 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221886977 CA364801104 |
1081 | V>A | No |
ClinGen gnomAD |
|
|
CA3879118 rs142709074 |
1086 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364801150 rs1255578405 |
1089 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs778259924 CA364801149 |
1089 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778259924 CA3879119 |
1089 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA364801152 rs1255578405 |
1089 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3879121 rs758154714 |
1090 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs754205876 CA3879120 |
1090 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA364801155 rs758154714 |
1090 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779504494 CA364801157 |
1091 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3879123 rs746540706 |
1091 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779504494 CA3879122 |
1091 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs781253779 CA364801162 |
1092 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3879125 rs781253779 |
1092 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1311591420 CA364801182 |
1095 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1372881423 CA364801190 |
1096 | M>V | No |
ClinGen gnomAD |
|
|
CA3879147 rs749140448 COSM3784719 |
1097 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA141146747 rs868645693 |
1100 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1101 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364801245 rs1468168908 |
1102 | S>F | No |
ClinGen gnomAD |
|
|
CA364801266 rs1264271911 |
1105 | V>A | No |
ClinGen gnomAD |
|
|
rs1429685116 CA364801274 |
1106 | L>F | No |
ClinGen gnomAD |
|
|
CA3879151 rs772288051 |
1112 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764710020 CA3879154 |
1116 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1117 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879156 rs762331542 |
1119 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs143771457 CA3879157 |
1120 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs981714877 CA141146749 |
1120 | M>T | No |
ClinGen Ensembl |
|
|
CA364801356 rs1363802271 |
1120 | M>V | No |
ClinGen gnomAD |
|
|
rs896719594 CA141146750 COSM96306 |
1124 | R>C | lung liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs149298585 COSM1445657 CA3879158 |
1124 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1128 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879161 rs752218830 |
1130 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA364801432 rs1334497129 |
1131 | L>F | No |
ClinGen gnomAD |
|
|
rs1262933878 CA364801447 |
1133 | A>G | No |
ClinGen gnomAD |
|
|
CA3879162 rs376667685 |
1133 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1157027419 CA364801453 |
1134 | V>A | No |
ClinGen TOPMed |
|
|
CA3879163 COSM354888 rs777756448 |
1134 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1135 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189575192 CA364801512 |
1143 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3879166 rs778594060 |
1144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA364801528 rs1442625637 |
1145 | M>I | No |
ClinGen TOPMed |
|
|
CA141146752 rs927584777 |
1145 | M>T | No |
ClinGen Ensembl |
|
|
CA3879167 rs745635496 |
1145 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141146753 rs1014265159 |
1146 | V>A | No |
ClinGen TOPMed |
|
|
rs539567711 CA3879168 |
1146 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3879169 rs780364820 |
1149 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768850155 CA3879171 |
1151 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879170 rs559178026 |
1151 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1358352348 CA364801565 |
1152 | R>G | No |
ClinGen gnomAD |
|
|
TCGA novel CA3879194 rs771255138 |
1155 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs775172680 CA3879195 |
1156 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015004096 CA141148574 |
1156 | D>Y | No |
ClinGen Ensembl |
|
|
rs1015988304 CA141148576 |
1159 | R>G | No |
ClinGen TOPMed |
|
|
CA141148577 rs964837842 |
1159 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763695285 CA141148578 |
1159 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369475329 CA3879199 |
1161 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455524133 CA364801660 |
1164 | N>I | No |
ClinGen gnomAD |
|
|
rs1455524133 CA364801659 |
1164 | N>S | No |
ClinGen gnomAD |
|
|
CA141148579 rs756857757 |
1165 | C>R | No |
ClinGen Ensembl |
|
|
CA364801666 rs1321028402 |
1165 | C>Y | No |
ClinGen gnomAD |
|
|
CA364801681 rs1412577858 |
1167 | D>N | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751346476 CA364801707 |
1170 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA364801705 rs1355350379 |
1170 | N>S | No |
ClinGen gnomAD |
|
|
CA364801711 rs755259517 |
1171 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3879205 rs755259517 |
1171 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA364801725 rs868010056 |
1173 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA141148580 rs868010056 |
1173 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs865786073 CA141148581 |
1174 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3879208 rs756216410 |
1175 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1081157 CA3879210 rs142863825 |
1176 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774729429 CA3879212 |
1179 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1180 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768310568 CA3879214 |
1181 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1182 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776332489 CA3879215 |
1183 | Q>E | No |
ClinGen ExAC |
|
|
rs140713099 CA3879217 |
1185 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3879243 rs752385439 |
1190 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200962523 COSM597270 CA141148734 |
1192 | V>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1561997376 CA364797804 |
1193 | D>G | No |
ClinGen Ensembl |
|
|
rs1398565017 CA364797809 |
1194 | I>V | No |
ClinGen gnomAD |
|
|
rs753963400 CA364797830 |
1197 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM254567 CA3879247 rs757313795 |
1197 | R>Q | large_intestine urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1697490 CA364797839 rs1233594189 |
1199 | V>I | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750449981 CA3879270 |
1201 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200097950 CA364797877 |
1202 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA141149301 rs267601104 |
1203 | D>N | No |
ClinGen Ensembl |
|
|
CA3879272 rs780355361 |
1205 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1206 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364797900 rs1434517917 |
1206 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3879274 rs752022044 |
1208 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752022044 COSM255834 CA3879273 |
1208 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1582656795 CA364797916 |
1209 | A>P | No |
ClinGen Ensembl |
|
|
rs777526338 CA3879275 |
1210 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs748929966 CA3879276 |
1210 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1045718885 CA141149303 |
1211 | T>A | No |
ClinGen TOPMed |
|
|
CA3879277 rs770659623 |
1212 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1328937474 CA364797931 |
1212 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364797953 rs1444443205 |
1215 | T>K | No |
ClinGen gnomAD |
|
|
rs1305578976 CA364797958 |
1216 | L>P | No |
ClinGen gnomAD |
|
|
rs867815566 CA141149305 |
1217 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1219 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879279 rs778598786 |
1221 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA364798002 rs1196659612 |
1223 | D>E | No |
ClinGen gnomAD |
|
|
CA3879280 rs377239769 |
1223 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364798011 rs1233232158 |
1224 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772061408 CA3879282 |
1225 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364798028 rs1456533751 |
1227 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1216050242 CA364798042 CA364798041 |
1228 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA364798046 rs1254198978 |
1229 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364798052 rs1359039124 |
1230 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364798056 rs1582656854 |
1231 | N>D | No |
ClinGen Ensembl |
|
|
CA3879284 rs760582816 |
1232 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879283 rs370962794 |
1232 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs941764211 CA141149308 |
1234 | G>R | No |
ClinGen TOPMed |
|
|
CA364798084 rs1476179988 |
1235 | L>R | No |
ClinGen gnomAD |
|
|
CA364798090 rs1171002319 |
1236 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364798094 rs1398875215 |
1237 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1463627831 CA364798102 |
1238 | S>P | No |
ClinGen gnomAD |
|
|
CA364798110 rs1327771019 |
1239 | T>K | No |
ClinGen gnomAD |
|
|
CA364798122 rs1395132731 |
1241 | P>S | No |
ClinGen gnomAD |
|
|
rs776886252 CA3879286 |
1243 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3879287 rs762041519 |
1249 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA141149309 rs374374073 |
1250 | I>V | No |
ClinGen ESP |
|
| TCGA novel | 1251 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1251 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561999012 CA364798208 |
1254 | T>P | No |
ClinGen Ensembl |
|
|
COSM451734 rs1249840100 CA364798224 |
1256 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA364798219 rs375380152 |
1256 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879292 COSM96307 rs751982378 |
1258 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3879291 rs766980264 |
1258 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879293 rs755423691 |
1260 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141149310 rs375766257 |
1261 | S>N | No |
ClinGen ESP |
|
|
rs768020579 CA3879294 |
1261 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223294997 CA364798273 |
1263 | N>S | No |
ClinGen TOPMed |
|
|
rs1356909090 CA364798278 |
1264 | E>Q | No |
ClinGen TOPMed |
|
|
CA3879296 rs756975787 |
1265 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA364798291 rs1582656926 |
1266 | S>G | No |
ClinGen Ensembl |
|
|
rs1476516711 CA364798315 |
1269 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1271 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1273 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364798384 rs780079804 |
1278 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879300 rs780079804 |
1278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879299 rs61740387 |
1278 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1281 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561999035 CA364798398 |
1281 | V>M | No |
ClinGen Ensembl |
|
|
CA3879302 rs140587674 |
1284 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1015517299 CA141149312 |
1285 | T>A | No |
ClinGen Ensembl |
|
|
CA3879303 rs776438259 |
1285 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364798429 rs776438259 |
1285 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879305 rs150039298 |
1286 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773421910 CA3879306 |
1287 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1445660 rs539620519 CA3879307 |
1288 | N>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs539620519 CA364798444 |
1288 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1427908110 CA364798458 |
1290 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1291 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1292 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879309 rs774444033 |
1292 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3879311 rs553236847 |
1293 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364798480 rs1351779059 |
1293 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364798487 rs1431282260 |
1294 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1295 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879314 rs145331140 |
1296 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1489688044 CA364798502 |
1296 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3879313 rs145331140 |
1296 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3879316 rs757975932 |
1298 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746483861 CA364798520 |
1299 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA3879318 rs746483861 |
1299 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3879317 rs779451522 |
1299 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA141149314 rs867238592 |
1301 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3879320 rs781047271 |
1303 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1190779043 CA364798558 |
1304 | M>I | No |
ClinGen Ensembl |
|
|
CA3879321 rs375229623 CA364798553 |
1304 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364798554 rs375229623 |
1304 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364798573 rs1358445094 |
1306 | S>I | No |
ClinGen gnomAD |
|
|
CA141149316 rs199779266 |
1308 | Y>S | No |
ClinGen Ensembl |
|
|
rs1378472257 CA364798601 |
1310 | V>E | No |
ClinGen gnomAD |
|
|
rs778021111 CA3879323 |
1310 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA364798600 rs778021111 COSM150120 |
1310 | V>M | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs148857435 CA141149317 |
1311 | M>L | No |
ClinGen ESP |
|
|
CA141149318 rs935753446 |
1318 | N>K | No |
ClinGen gnomAD |
|
|
rs749498662 CA3879324 |
1318 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771147806 CA3879325 |
1319 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA141149319 rs917051314 |
1320 | P>H | No |
ClinGen Ensembl |
|
|
CA141149320 rs867483341 |
1322 | M>I | No |
ClinGen Ensembl |
|
|
rs759603992 CA3879327 |
1323 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs772765610 CA3879328 |
1323 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA364798715 rs1256248993 |
1327 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1327 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021725713 CA141149322 |
1328 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375611922 CA3879329 |
1330 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375611922 CA3879330 |
1330 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879331 rs764530335 |
1331 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1440217916 CA364798747 |
1331 | G>V | No |
ClinGen gnomAD |
|
|
rs1378211252 CA364798751 |
1332 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1436385305 CA364798753 |
1332 | M>R | No |
ClinGen gnomAD |
|
|
rs1378211252 CA364798749 |
1332 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs535796817 CA3879333 |
1334 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535796817 CA3879334 |
1334 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1336 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879335 rs368182792 |
1336 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs949938370 CA364798785 |
1337 | H>L | No |
ClinGen TOPMed |
|
|
CA141149323 rs949938370 |
1337 | H>R | No |
ClinGen TOPMed |
|
|
CA364798794 rs1177908600 |
1338 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3879338 rs752611308 |
1339 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs371868899 CA3879339 |
1340 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307751320 CA364798817 |
1342 | H>P | No |
ClinGen gnomAD |
|
|
rs777464638 CA3879340 |
1342 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1220188917 CA364798825 COSM172335 |
1343 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA141149324 rs983794906 |
1344 | K>T | No |
ClinGen TOPMed |
|
|
rs749046588 CA3879341 |
1345 | V>L | No |
ClinGen ExAC |
|
|
rs375247005 CA3879342 |
1346 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779184085 CA3879343 |
1347 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3879344 rs746013983 |
1350 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457849120 CA364798881 |
1351 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1252526730 CA364798878 |
1351 | M>L | No |
ClinGen gnomAD |
|
|
CA364798879 rs1457849120 |
1351 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3879345 rs772245703 |
1352 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776187019 CA3879346 |
1353 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA364798909 rs1191552389 |
1356 | M>L | No |
ClinGen gnomAD |
|
|
rs556625961 CA141149325 |
1356 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs556625961 CA3879348 |
1356 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1445661 rs1431634800 CA364798938 |
1359 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3879349 rs76770231 |
1360 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3879350 rs762176316 |
1363 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA364798966 rs1401069830 |
1363 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1364 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1365 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879352 rs751218392 |
1366 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA364798990 rs751218392 |
1366 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206163416 CA364798994 |
1367 | L>V | No |
ClinGen TOPMed |
|
|
CA364799000 rs767038879 |
1368 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767038879 COSM3160877 CA3879354 |
1368 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1365988303 CA364799003 |
1368 | A>V | No |
ClinGen gnomAD |
|
|
CA3879355 rs752165689 |
1369 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs866252968 CA141149326 |
1371 | E>K | No |
ClinGen Ensembl |
|
|
rs770901276 CA3879357 |
1373 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1373 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780949314 CA3879358 |
1375 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757072092 CA3879359 |
1375 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364799060 rs1469755156 |
1376 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA141149327 rs1005366394 |
1377 | P>L | No |
ClinGen Ensembl |
|
|
CA364799063 rs1304887978 |
1377 | P>S | No |
ClinGen TOPMed |
|
|
rs1015050706 CA141149328 |
1379 | E>G | No |
ClinGen gnomAD |
|
|
rs1015050706 CA364799078 |
1379 | E>V | No |
ClinGen gnomAD |
|
|
rs746063281 CA3879361 |
1381 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1081165 CA3879363 rs183570911 |
1381 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs183570911 CA3879362 |
1381 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373346448 CA3879364 |
1382 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745728648 COSM1245935 CA141149329 |
1383 | A>P | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3879365 rs769053855 |
1384 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs777179845 CA364799109 |
1385 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364799105 rs1420181695 |
1385 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777179845 CA3879366 |
1385 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323520952 CA364799113 |
1386 | N>D | No |
ClinGen gnomAD |
|
|
CA364799115 rs1348452590 |
1386 | N>T | No |
ClinGen gnomAD |
|
|
rs1299585312 CA364799132 |
1388 | M>T | No |
ClinGen gnomAD |
|
|
CA3879368 rs770174816 |
1389 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773402786 CA3879369 |
1392 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180409248 CA364799167 |
1393 | D>E | No |
ClinGen TOPMed |
|
|
rs769421226 CA3879370 |
1393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA364799172 rs1450843740 |
1394 | D>A | No |
ClinGen gnomAD |
|
|
rs1289085632 CA364799203 |
1399 | S>P | No |
ClinGen gnomAD |
|
|
CA364799208 rs1319639898 |
1400 | R>G | No |
ClinGen gnomAD |
|
|
rs1218522209 CA364799234 |
1403 | T>N | No |
ClinGen gnomAD |
|
|
rs1460422620 COSM93949 CA364799242 |
1404 | G>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1488076344 CA364799248 |
1405 | S>L | No |
ClinGen gnomAD |
|
|
CA364799250 rs1191834763 |
1406 | T>A | No |
ClinGen gnomAD |
|
|
CA3879374 COSM1546918 rs368886155 |
1406 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364799271 rs1163129553 |
1409 | M>T | No |
ClinGen gnomAD |
|
|
rs1353057895 CA364799279 |
1410 | S>N | No |
ClinGen TOPMed |
|
|
rs764005568 CA3879375 |
1411 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA364799291 rs1561999278 |
1412 | L>* | No |
ClinGen Ensembl |
|
|
rs2183071 CA141149333 |
1413 | E>Q | No |
ClinGen Ensembl |
|
|
rs771770089 CA3879390 |
1414 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364799324 rs1441672947 |
1415 | R>K | No |
ClinGen TOPMed |
|
|
CA141150546 COSM1721536 rs1046244884 |
1418 | R>Q | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs775119819 CA364799367 |
1421 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3879392 rs760144348 |
1423 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1423 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156395679 CA364799377 |
1423 | D>Y | No |
ClinGen gnomAD |
|
|
rs763639562 CA3879393 |
1425 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364799941 rs963318154 |
1427 | V>F | No |
ClinGen TOPMed |
|
|
CA141151730 rs963318154 |
1427 | V>I | No |
ClinGen TOPMed |
|
|
CA3879411 rs746694371 |
1429 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000736203 CA364799984 rs1562005199 |
1433 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1435 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879414 rs761169898 |
1435 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1331511032 CA364799998 |
1435 | M>V | No |
ClinGen gnomAD |
|
|
CA364800038 rs1219329845 |
1440 | E>G | No |
ClinGen gnomAD |
|
|
CA3879416 rs773275182 |
1440 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA364800054 rs1456813336 |
1443 | Q>K | No |
ClinGen gnomAD |
|
|
CA3879418 rs766252253 |
1443 | Q>P | No |
ClinGen ExAC |
|
| TCGA novel | 1448 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268452465 CA364800094 |
1448 | L>S | No |
ClinGen gnomAD |
|
|
rs766806365 CA141151731 |
1449 | D>G | No |
ClinGen Ensembl |
|
|
rs759812129 CA364800108 |
1450 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879420 rs759812129 |
1450 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950827348 CA141151732 |
1451 | F>Y | No |
ClinGen Ensembl |
|
|
CA3879421 rs148278852 COSM370584 |
1452 | R>Q | lung liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM259595 rs1197657726 CA364800119 |
1452 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1453 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752884419 CA3879422 |
1453 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs752884419 CA364800126 |
1453 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs912025639 CA141151733 |
1454 | I>V | No |
ClinGen gnomAD |
|
|
rs756144953 CA3879423 |
1455 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA364800136 rs756144953 |
1455 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3879424 rs374440253 |
1457 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754322906 CA3879425 |
1457 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3879426 rs757714886 |
1459 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1236558415 CA364800170 |
1460 | M>K | No |
ClinGen TOPMed |
|
|
CA364800171 rs1236558415 |
1460 | M>T | No |
ClinGen TOPMed |
|
|
rs1484463698 CA364800168 |
1460 | M>V | No |
ClinGen TOPMed |
|
|
CA364800563 rs1423148720 |
1462 | N>I | No |
ClinGen gnomAD |
|
|
rs1359766044 CA364800564 |
1462 | N>K | No |
ClinGen TOPMed |
|
|
rs764036367 COSM254565 CA3879453 |
1464 | A>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 1465 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364800595 rs1158212267 |
1467 | K>R | No |
ClinGen gnomAD |
|
|
CA141152362 rs200465903 |
1469 | P>T | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1470 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942254194 CA141152363 |
1471 | D>N | No |
ClinGen Ensembl |
|
|
rs528436643 CA3879457 |
1472 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3879458 rs137911832 |
1473 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA141152364 rs1037972324 |
1473 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1474 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3879460 rs760921251 |
1476 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764231393 CA3879461 |
1477 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1286210476 CA364800669 |
1478 | E>G | No |
ClinGen gnomAD |
|
|
rs776701796 CA3879462 |
1478 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761863915 CA3879463 |
1480 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs536668492 CA3879466 |
1482 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3879467 rs766675094 |
1484 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482661393 CA364800712 |
1484 | T>I | No |
ClinGen gnomAD |
|
|
rs755846474 CA3879469 |
1486 | N>D | No |
ClinGen ExAC TOPMed |
|
|
rs1239952872 CA364800753 |
1490 | T>K | No |
ClinGen gnomAD |
|
|
rs777555568 CA3879470 |
1492 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA141152365 rs922744408 |
1494 | D>V | No |
ClinGen TOPMed |
|
|
CA141152366 rs945858078 |
1495 | A>T | No |
ClinGen TOPMed |
|
|
rs748874619 CA3879471 |
1495 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA364800810 rs1435098099 |
1499 | R>M | No |
ClinGen gnomAD |
|
|
rs1582673462 CA364800835 |
1503 | W>G | No |
ClinGen Ensembl |
|
|
rs556979556 CA3879472 |
1504 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364800856 rs1468313815 |
1505 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1377094767 COSM84989 CA364800853 |
1505 | K>R | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs570457533 CA3879473 |
1507 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3879475 rs199746859 |
1512 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1204888724 CA364800927 |
1516 | G>D | No |
ClinGen Ensembl |
|
|
rs1220552671 CA364800940 |
1518 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1322137537 CA364800948 |
1519 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1221157827 CA364800960 |
1521 | E>K | No |
ClinGen gnomAD |
No associated diseases with O60242
6 regional properties for O60242
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M41 | 563 - 744 | IPR000642 |
| domain | AAA+ ATPase domain | 341 - 480 | IPR003593 |
| domain | ATPase, AAA-type, core | 346 - 477 | IPR003959 |
| conserved_site | ATPase, AAA-type, conserved site | 448 - 466 | IPR003960 |
| domain | Peptidase M41, FtsH extracellular | 157 - 241 | IPR011546 |
| domain | AAA ATPase, AAA+ lid domain | 509 - 547 | IPR041569 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| synaptic cleft | The narrow gap that separates the presynaptic and postsynaptic membranes, into which neurotransmitter is released. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| maintenance of synapse structure | A process that preserves the structural organistation and orientation of a synaptic cellular component such as the synaptic cytoskeleton and molecular scaffolds. |
| motor learning | Any process in which an organism acquires a novel neuromuscular action or movement as the result of experience. |
| myoblast fusion | A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| neuron remodeling | The developmentally regulated remodeling of neuronal projections such as pruning to eliminate the extra dendrites and axons projections set up in early stages of nervous system development. |
| positive regulation of synapse assembly | Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. |
| regulation of dendrite morphogenesis | Any process that modulates the frequency, rate or extent of dendrite morphogenesis. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKAVRNLLIY | IFSTYLLVMF | GFNAAQDFWC | STLVKGVIYG | SYSVSEMFPK | NFTNCTWTLE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPDPTKYSIY | LKFSKKDLSC | SNFSLLAYQF | DHFSHEKIKD | LLRKNHSIMQ | LCNSKNAFVF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQYDKNFIQI | RRVFPTNFPG | LQKKGEEDQK | SFFEFLVLNK | VSPSQFGCHV | LCTWLESCLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SENGRTESCG | IMYTKCTCPQ | HLGEWGIDDQ | SLILLNNVVL | PLNEQTEGCL | TQELQTTQVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLTREAKRPP | KEEFGMMGDH | TIKSQRPRSV | HEKRVPQEQA | DAAKFMAQTG | ESGVEEWSQW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| STCSVTCGQG | SQVRTRTCVS | PYGTHCSGPL | RESRVCNNTA | LCPVHGVWEE | WSPWSLCSFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CGRGQRTRTR | SCTPPQYGGR | PCEGPETHHK | PCNIALCPVD | GQWQEWSSWS | QCSVTCSNGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QQRSRQCTAA | AHGGSECRGP | WAESRECYNP | ECTANGQWNQ | WGHWSGCSKS | CDGGWERRIR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TCQGAVITGQ | QCEGTGEEVR | RCNEQRCPAP | YEICPEDYLM | SMVWKRTPAG | DLAFNQCPLN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ATGTTSRRCS | LSLHGVAFWE | QPSFARCISN | EYRHLQHSIK | EHLAKGQRML | AGDGMSQVTK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TLLDLTQRKN | FYAGDLLMSV | EILRNVTDTF | KRASYIPASD | GVQNFFQIVS | NLLDEENKEK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WEDAQQIYPG | SIELMQVIED | FIHIVGMGMM | DFQNSYLMTG | NVVASIQKLP | AASVLTDINF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PMKGRKGMVD | WARNSEDRVV | IPKSIFTPVS | SKELDESSVF | VLGAVLYKNL | DLILPTLRNY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TVINSKIIVV | TIRPEPKTTD | SFLEIELAHL | ANGTLNPYCV | LWDDSKTNES | LGTWSTQGCK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TVLTDASHTK | CLCDRLSTFA | ILAQQPREII | MESSGTPSVT | LIVGSGLSCL | ALITLAVVYA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ALWRYIRSER | SIILINFCLS | IISSNILILV | GQTQTHNKSI | CTTTTAFLHF | FFLASFCWVL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TEAWQSYMAV | TGKIRTRLIR | KRFLCLGWGL | PALVVATSVG | FTRTKGYGTD | HYCWLSLEGG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LLYAFVGPAA | AVVLVNMVIG | ILVFNKLVSR | DGILDKKLKH | RAGQMSEPHS | GLTLKCAKCG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| VVSTTALSAT | TASNAMASLW | SSCVVLPLLA | LTWMSAVLAM | TDKRSILFQI | LFAVFDSLQG |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| FVIVMVHCIL | RREVQDAFRC | RLRNCQDPIN | ADSSSSFPNG | HAQIMTDFEK | DVDIACRSVL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| HKDIGPCRAA | TITGTLSRIS | LNDDEEEKGT | NPEGLSYSTL | PGNVISKVII | QQPTGLHMPM |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| SMNELSNPCL | KKENSELRRT | VYLCTDDNLR | GADMDIVHPQ | ERMMESDYIV | MPRSSVNNQP |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| SMKEESKMNI | GMETLPHERL | LHYKVNPEFN | MNPPVMDQFN | MNLEQHLAPQ | EHMQNLPFEP |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| RTAVKNFMAS | ELDDNAGLSR | SETGSTISMS | SLERRKSRYS | DLDFEKVMHT | RKRHMELFQE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LNQKFQTLDR | FRDIPNTSSM | ENPAPNKNPW | DTFKNPSEYP | HYTTINVLDT | EAKDALELRP |
| 1510 | 1520 | ||||
| AEWEKCLNLP | LDVQEGDFQT | EV |