Q92797
PR
Gene name |
SYMPK (SPK) |
Protein name |
Symplekin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8189 |
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
9 structures for Q92797
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3O2Q | X-ray | 240 A | A/D | 30-360 | PDB |
| 3O2S | X-ray | 250 A | A | 30-360 | PDB |
| 3O2T | X-ray | 140 A | A | 30-395 | PDB |
| 3ODR | X-ray | 220 A | A | 1-395 | PDB |
| 3ODS | X-ray | 190 A | A | 1-395 | PDB |
| 4H3H | X-ray | 220 A | A/D | 30-360 | PDB |
| 4H3K | X-ray | 200 A | A/D | 30-360 | PDB |
| 6V4X | EM | 320 A | J | 30-1101 | PDB |
| AF-Q92797-F1 | Predicted | AlphaFoldDB |
941 variants for Q92797
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA406450298 rs1290269571 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs773604683 CA9524382 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9524380 rs748474165 |
4 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406450265 rs1426454146 |
5 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9524379 rs781699157 |
5 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs991646248 CA309039901 |
7 | D>N | No |
ClinGen TOPMed |
|
|
CA406450227 rs1422138291 |
8 | S>N | No |
ClinGen gnomAD |
|
|
CA9524377 rs747620151 |
8 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77958784 CA406450220 |
9 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9524376 rs77958784 |
9 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201272896 CA9524375 |
11 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360733051 CA406450193 |
12 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406450197 rs1225248355 |
12 | R>W | No |
ClinGen gnomAD |
|
|
CA9524373 rs778501223 |
13 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs374780468 CA9524372 |
14 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753574765 CA9524371 |
20 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760513984 CA9524369 |
21 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs752727012 CA9524367 |
23 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524365 rs763045570 |
24 | G>A | No |
ClinGen ExAC |
|
|
rs371180833 CA9524364 |
25 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762128952 CA9524362 |
26 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371089842 COSM190972 CA9524360 |
28 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1305687448 CA406450013 |
29 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406450010 rs1490615660 |
30 | M>L | No |
ClinGen gnomAD |
|
|
CA406450004 rs1340238379 |
30 | M>R | No |
ClinGen TOPMed |
|
|
rs1446791211 CA406449997 |
31 | T>A | No |
ClinGen gnomAD |
|
|
CA406449989 rs1268725951 |
31 | T>I | No |
ClinGen gnomAD |
|
|
CA406449982 rs1208560803 |
32 | T>S | No |
ClinGen gnomAD |
|
|
rs1207420878 CA406449985 |
32 | T>S | No |
ClinGen TOPMed |
|
|
rs1470414605 CA406449899 |
37 | V>M | No |
ClinGen gnomAD |
|
|
CA309039589 rs1021602533 |
42 | Q>E | No |
ClinGen Ensembl |
|
|
CA9524327 rs751604243 |
43 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524326 rs374884526 |
44 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309039570 rs925677406 |
47 | T>I | No |
ClinGen TOPMed |
|
|
CA406449803 rs925677406 |
47 | T>N | No |
ClinGen TOPMed |
|
|
CA406449799 rs1310498988 |
48 | N>D | No |
ClinGen TOPMed |
|
|
rs753895849 CA9524324 |
48 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406449785 rs1235798431 |
49 | D>G | No |
ClinGen gnomAD |
|
|
CA9524323 rs201588333 |
50 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406449772 rs1348104274 |
50 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 51 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442587643 CA406449748 |
52 | I>M | No |
ClinGen gnomAD |
|
|
rs911551655 CA309039555 |
55 | L>F | No |
ClinGen TOPMed |
|
|
rs751940340 CA9524300 |
59 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA309038476 rs953748604 |
62 | I>M | No |
ClinGen TOPMed |
|
|
CA9524299 rs766809938 |
65 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs776305559 CA9524277 |
76 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1477629749 CA406449121 |
79 | A>E | No |
ClinGen gnomAD |
|
|
CA406449123 rs1232849316 |
79 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406449125 rs1232849316 |
79 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406449100 rs1600529169 |
81 | Q>P | No |
ClinGen Ensembl |
|
|
CA406449092 rs1600529160 |
82 | A>T | No |
ClinGen Ensembl |
|
|
rs760411425 CA9524275 |
84 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs775423921 CA9524274 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771823781 CA9524273 |
87 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA406449015 rs1196975255 |
89 | R>Q | No |
ClinGen gnomAD |
|
|
CA309038322 rs1030684727 |
90 | K>T | No |
ClinGen TOPMed |
|
|
CA9524272 rs745799037 |
92 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA309038315 rs999238033 |
93 | I>V | No |
ClinGen Ensembl |
|
|
CA406448965 rs770918794 |
94 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524270 rs770918794 |
94 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524269 rs748115941 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1443634228 CA406448926 |
97 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779341455 CA9524240 |
102 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA406448504 rs540054802 |
102 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540054802 COSM566802 CA9524239 |
102 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181594548 CA406448463 |
109 | K>Q | No |
ClinGen TOPMed |
|
|
rs755729561 CA9524236 |
111 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1312889805 CA406448448 |
111 | I>V | No |
ClinGen gnomAD |
|
|
rs1376578954 CA406448431 |
113 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9524235 rs752274331 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767015678 COSM285467 CA9524234 |
115 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759228213 CA9524233 |
120 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004415429 CA309035209 |
121 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA309035202 rs887400035 |
122 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1421958831 CA406448349 |
125 | V>A | No |
ClinGen gnomAD |
|
|
CA9524230 rs762852760 |
125 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309035187 rs1052771163 |
126 | V>A | No |
ClinGen Ensembl |
|
|
rs773174155 CA9524229 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9524228 rs374799237 |
130 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747043629 CA9524227 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA406448307 rs1225357417 |
132 | T>N | No |
ClinGen gnomAD |
|
|
rs1024388821 CA309035169 |
133 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1489114200 CA406448292 |
134 | T>S | No |
ClinGen gnomAD |
|
|
CA406448255 rs1267863103 |
140 | A>T | No |
ClinGen TOPMed |
|
|
CA406448217 rs1379198525 |
143 | W>* | No |
ClinGen gnomAD |
|
|
rs748744481 CA9524200 |
144 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770416533 CA9524201 |
144 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs780543456 CA9524199 |
145 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1021648369 CA309034379 |
145 | V>I | No |
ClinGen gnomAD |
|
|
rs1021648369 CA406448207 |
145 | V>L | No |
ClinGen gnomAD |
|
|
CA406448201 rs1174635945 |
146 | K>M | No |
ClinGen gnomAD |
|
|
rs754555773 CA9524198 |
147 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197367982 CA406448190 |
148 | R>Q | No |
ClinGen gnomAD |
|
|
CA9524197 rs751061633 |
148 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1442131155 CA406448183 |
149 | V>G | No |
ClinGen gnomAD |
|
|
CA309034369 rs866167280 |
149 | V>I | No |
ClinGen Ensembl |
|
|
rs779633536 CA9524196 |
150 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9524195 rs758060264 |
151 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs777396319 CA309034352 |
152 | E>K | No |
ClinGen gnomAD |
|
|
rs777396319 CA406448169 |
152 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9524193 rs765084717 |
160 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406448091 rs1207602717 |
162 | S>F | No |
ClinGen TOPMed |
|
|
rs761726981 CA9524192 |
163 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753864731 CA9524191 |
163 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309034252 rs927578710 |
165 | A>T | No |
ClinGen TOPMed |
|
|
CA9524190 rs767467277 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410485887 CA406448073 |
166 | G>W | No |
ClinGen TOPMed |
|
|
rs1446170038 CA406448063 |
167 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9524188 rs774304116 |
175 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406448003 rs1395236377 |
176 | N>S | No |
ClinGen TOPMed |
|
|
CA309034209 rs771207438 |
177 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023200427 CA309034174 |
180 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA309034173 rs113726151 |
182 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146146730 CA9524185 |
183 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752359500 CA309034125 |
190 | L>F | No |
ClinGen TOPMed |
|
|
rs1048724232 CA309034123 |
191 | I>T | No |
ClinGen TOPMed |
|
|
CA406447907 rs1230737086 |
191 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9524183 rs748571461 |
194 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1442681205 CA406447865 |
195 | S>L | No |
ClinGen gnomAD |
|
|
CA406447863 rs1326891344 |
196 | P>T | No |
ClinGen gnomAD |
|
|
rs555466334 CA309034118 |
197 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781695043 CA9524182 |
197 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs929039986 CA406447846 |
198 | M>L | No |
ClinGen gnomAD |
|
|
rs74684616 CA309034108 |
198 | M>T | No |
ClinGen Ensembl |
|
|
rs929039986 CA309034109 |
198 | M>V | No |
ClinGen gnomAD |
|
|
CA9524180 rs746471156 |
204 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA309034064 COSM3692888 rs897613793 |
205 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs745581075 CA9524177 |
205 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs745581075 CA9524178 |
205 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9524176 rs778659035 |
206 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs181097745 CA9524175 |
206 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs181097745 CA9524174 |
206 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309034038 rs559426079 |
207 | Q>L | No |
ClinGen 1000Genomes |
|
|
rs1402250264 CA406447705 |
209 | H>Q | No |
ClinGen gnomAD |
|
|
CA9524173 rs764047353 |
209 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756005642 CA9524172 |
210 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 211 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751681898 CA9524171 |
211 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524170 rs766621166 |
212 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA406447666 rs763243357 |
213 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1164542033 CA406447645 |
214 | D>E | No |
ClinGen gnomAD |
|
|
CA9524167 rs765585607 |
215 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9524168 rs765585607 |
215 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs546469373 CA9524166 |
215 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190807637 CA309033989 |
216 | I>N | No |
ClinGen TOPMed |
|
|
CA406447634 rs190807637 |
216 | I>T | No |
ClinGen TOPMed |
|
|
CA309033984 rs1037643952 |
217 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1263705470 CA406447618 |
218 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1263705470 CA406447619 |
218 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9524165 rs776872481 |
218 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406447593 rs1600524228 |
220 | H>P | No |
ClinGen Ensembl |
|
|
rs769141253 CA9524164 |
221 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437776128 CA406447553 |
222 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs138430981 CA9524161 |
223 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138430981 CA9524160 |
223 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406447509 rs1355830832 |
224 | Q>H | No |
ClinGen gnomAD |
|
|
rs1330717686 CA406447516 |
224 | Q>R | No |
ClinGen TOPMed |
|
|
rs202218775 CA9524159 |
225 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406446846 rs1251190199 |
226 | N>S | No |
ClinGen gnomAD |
|
|
rs1056400287 CA406446834 |
227 | V>A | No |
ClinGen gnomAD |
|
|
rs1056400287 CA309030430 |
227 | V>E | No |
ClinGen gnomAD |
|
|
rs759001948 CA406446839 |
227 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759001948 CA9524142 |
227 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234512672 CA406446828 |
228 | L>V | No |
ClinGen TOPMed |
|
|
rs1479570158 CA406446813 |
229 | W>* | No |
ClinGen TOPMed |
|
|
CA9524141 rs144772956 |
230 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406446782 rs1243385488 |
231 | E>A | No |
ClinGen TOPMed |
|
|
CA9524140 rs770608220 |
233 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524139 rs748947769 |
234 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA406446724 rs1219123698 |
236 | L>V | No |
ClinGen gnomAD |
|
|
CA406446700 rs1600520345 |
237 | E>G | No |
ClinGen Ensembl |
|
|
CA9524138 rs777599782 |
240 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300577320 CA406446652 |
240 | L>V | No |
ClinGen gnomAD |
|
|
rs1003627454 CA309030397 |
241 | K>Q | No |
ClinGen gnomAD |
|
|
CA9524137 rs533384985 |
243 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406446591 rs1600520320 |
245 | H>P | No |
ClinGen Ensembl |
|
|
CA9524136 rs747985563 |
245 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410005649 CA406446578 |
246 | P>R | No |
ClinGen TOPMed |
|
|
rs1356770778 CA406446545 |
250 | S>Y | No |
ClinGen TOPMed |
|
|
CA406446505 rs1393222938 |
256 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1440409165 CA406446485 |
260 | L>F | No |
ClinGen gnomAD |
|
|
CA309030339 rs866207460 |
261 | A>V | No |
ClinGen Ensembl |
|
|
rs199889309 CA9524130 |
262 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9524129 rs372851833 |
263 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753085479 CA9524127 |
264 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406446463 rs753085479 |
264 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524126 rs767958811 |
265 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288801601 CA406446456 |
265 | R>H | No |
ClinGen gnomAD |
|
|
rs773911989 CA309030307 CA9524124 |
269 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs910067552 CA309030320 |
269 | M>T | No |
ClinGen gnomAD |
|
|
CA9524123 rs770390937 |
271 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA406446385 rs1303168637 |
275 | I>M | No |
ClinGen gnomAD |
|
|
CA309030300 rs867701555 |
275 | I>V | No |
ClinGen Ensembl |
|
|
CA406446382 rs1413944307 |
276 | Q>* | No |
ClinGen gnomAD |
|
|
CA406446366 rs1299946917 |
278 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9524098 rs776562320 |
284 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406446314 rs776562320 |
284 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775239397 CA9524095 |
287 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1293337842 CA406446297 |
287 | P>S | No |
ClinGen gnomAD |
|
|
CA9524093 rs749256464 |
288 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs781517027 CA9524089 |
293 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA406446226 rs1371759509 COSM3404396 |
298 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs749888027 CA9524084 |
310 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406446146 rs749888027 |
310 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524082 rs761525922 |
311 | H>D | No |
ClinGen ExAC gnomAD |
|
|
COSM998337 rs1380406181 CA406446130 |
312 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs763859695 CA9524080 |
312 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990299511 CA309028778 |
314 | S>C | No |
ClinGen TOPMed |
|
|
rs990299511 CA406446107 |
314 | S>F | No |
ClinGen TOPMed |
|
|
CA309028764 rs956276171 |
315 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1379316422 CA406446052 |
317 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775357590 CA9524078 |
321 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs142237458 CA9524077 |
322 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs745872378 CA9524076 |
322 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524075 rs773249636 |
323 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1600518184 CA406445994 |
323 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 332 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406445844 rs1466959686 |
333 | A>V | No |
ClinGen gnomAD |
|
|
rs781355229 CA9524072 |
334 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747279995 CA9524070 |
336 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9524068 rs758827254 |
337 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9524067 rs750978658 |
337 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309028667 rs750978658 |
337 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764818097 CA9524066 |
340 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406445684 rs1408388469 |
343 | K>R | No |
ClinGen TOPMed |
|
|
CA309028630 rs879172799 |
345 | T>P | No |
ClinGen Ensembl |
|
|
CA9524063 rs763771090 |
346 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM566803 CA406445587 rs763771090 |
346 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9524061 rs550681019 |
347 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767409455 CA9524060 |
348 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374940655 CA309028598 |
348 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9524059 rs150989264 |
349 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs774226899 CA9524058 |
350 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770888957 CA309028554 |
350 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770888957 CA9524057 |
350 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM998336 CA406445524 rs1337164547 |
351 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1422106392 CA406445504 |
352 | D>G | No |
ClinGen gnomAD |
|
|
COSM1228117 CA406445484 rs1361874799 |
353 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 356 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406445421 rs1469276219 |
357 | L>F | No |
ClinGen gnomAD |
|
|
rs1278872504 CA406445355 |
359 | K>M | No |
ClinGen TOPMed |
|
|
CA406445338 rs1232111363 |
360 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309025915 rs578192730 |
365 | N>T | No |
ClinGen 1000Genomes |
|
|
CA406443871 rs1286856943 |
367 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9524034 rs772213959 |
368 | E>* | No |
ClinGen ExAC gnomAD |
|
| rs1445349707 | 368 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9524031 rs374216465 |
370 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229050952 CA406443643 |
377 | P>A | No |
ClinGen TOPMed |
|
|
COSM376184 rs1220858006 CA406443628 |
378 | G>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9524027 rs752184648 |
379 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406443608 rs752184648 |
379 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270109268 CA406443611 |
379 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs111641417 CA9524024 COSM3823448 |
380 | S>L | Variant assessed as Somatic; 4.625e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750409105 CA9524021 |
383 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs750409105 CA406443501 |
383 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA9524019 rs760767402 |
384 | K>E | No |
ClinGen ExAC |
|
| TCGA novel | 384 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405092718 CA406443470 |
385 | A>V | No |
ClinGen TOPMed |
|
|
rs767718235 CA9524017 |
387 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774847383 CA9524015 |
389 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9524014 rs771458835 |
390 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs557692962 CA9524012 COSM1394702 |
391 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438744857 CA406443377 |
392 | Q>R | No |
ClinGen gnomAD |
|
|
CA406443339 rs1213298748 |
394 | D>E | No |
ClinGen gnomAD |
|
|
CA406443336 rs1347777046 |
395 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406443333 rs1304936919 |
395 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1304936919 CA406443329 |
395 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9524009 rs780626921 |
397 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754623665 CA406443266 |
400 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1327964888 CA406443248 |
402 | L>M | No |
ClinGen gnomAD |
|
|
CA406443237 rs1408104429 |
403 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 404 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427190159 CA406443220 |
404 | P>R | No |
ClinGen gnomAD |
|
|
rs1220019414 CA406443195 |
407 | T>A | No |
ClinGen TOPMed |
|
|
rs758139903 CA9524005 |
407 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs758139903 CA309025735 |
407 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA406443181 rs1208996600 |
408 | P>L | No |
ClinGen gnomAD |
|
|
rs757154204 CA9524002 |
409 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9524001 rs752804894 |
410 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9523973 rs765562535 |
416 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA406442592 rs1232645446 |
423 | P>H | No |
ClinGen TOPMed |
|
|
rs769181806 CA9523970 |
424 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406442572 rs1187715535 |
425 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9523969 rs760111852 |
426 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs112765364 CA309022408 |
426 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 443 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146050594 CA406442346 |
447 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146050594 CA9523966 |
447 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406442238 rs1568616413 |
457 | M>I | No |
ClinGen Ensembl |
|
|
CA406442218 rs1254828125 |
458 | T>I | No |
ClinGen TOPMed |
|
|
CA406442192 rs1485074997 |
460 | A>G | No |
ClinGen TOPMed |
|
|
rs1232464374 CA406442197 |
460 | A>S | No |
ClinGen gnomAD |
|
|
rs1466533013 CA406442185 |
461 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406440844 rs1249528521 |
468 | Q>E | No |
ClinGen gnomAD |
|
|
CA406440837 rs1382991826 |
468 | Q>P | No |
ClinGen TOPMed |
|
|
rs780260878 CA9523939 |
469 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523938 rs758361740 |
470 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA406440747 rs758361740 |
470 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA406440729 rs1232299019 |
471 | Q>R | No |
ClinGen gnomAD |
|
|
CA406440637 rs1337792194 |
473 | K>N | No |
ClinGen gnomAD |
|
|
rs948203114 CA309019305 |
473 | K>R | No |
ClinGen gnomAD |
|
|
CA406440605 rs1308073948 |
474 | E>V | No |
ClinGen gnomAD |
|
|
CA9523937 rs745992538 |
475 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406440522 rs1367412626 |
476 | P>A | No |
ClinGen TOPMed |
|
|
CA9523934 rs754186166 |
477 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9523935 rs757513856 |
477 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1375499120 CA406440433 |
478 | E>D | No |
ClinGen gnomAD |
|
|
CA9523932 rs756579147 |
480 | K>N | No |
ClinGen ExAC |
|
|
rs753250605 CA9523931 |
481 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9523929 rs758926588 |
482 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1418277324 CA406440285 |
483 | K>E | No |
ClinGen gnomAD |
|
|
CA406440278 rs1249396944 |
483 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9523928 rs773928434 |
483 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA406440281 rs1249396944 |
483 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA309019217 rs1048509718 |
486 | S>G | No |
ClinGen TOPMed |
|
|
CA9523925 rs374601877 |
487 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261519215 CA406440037 |
491 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406440020 rs1334320383 |
492 | R>C | No |
ClinGen gnomAD |
|
|
CA9523922 rs776672448 |
492 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022319807 CA309019203 |
493 | L>P | No |
ClinGen TOPMed |
|
|
rs779107411 CA9523919 |
497 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA406439854 rs1555794413 |
498 | Q>R | No |
ClinGen Ensembl |
|
|
rs186314633 CA309019179 |
501 | S>L | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 502 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406439039 rs1409421428 |
504 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406439002 rs1256740392 |
507 | S>N | No |
ClinGen gnomAD |
|
|
CA406438995 rs139386869 |
507 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755569665 CA9523912 |
508 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA9523911 rs369607465 |
509 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466569203 CA406438975 |
509 | M>L | No |
ClinGen gnomAD |
|
|
rs953789127 CA309016004 |
509 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9523910 rs765957468 |
510 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234298603 CA406438947 |
511 | P>R | No |
ClinGen gnomAD |
|
|
rs1021388489 CA309015973 |
511 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 512 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772951782 CA9523908 |
513 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433545975 CA406438845 |
517 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9523906 rs761634531 |
518 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406438810 rs1381260944 |
519 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA309015924 rs759458672 |
522 | R>M | No |
ClinGen Ensembl |
|
|
rs1461759043 CA406438684 |
525 | P>A | No |
ClinGen gnomAD |
|
|
CA9523904 rs150881076 |
525 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747034073 CA9523903 |
527 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA406438624 rs1373670420 |
528 | P>A | No |
ClinGen gnomAD |
|
|
CA9523902 rs368012736 |
531 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9523901 rs771044286 |
533 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1463665278 CA406438523 |
533 | R>W | No |
ClinGen gnomAD |
|
|
CA406438360 rs1355218517 |
535 | A>V | No |
ClinGen gnomAD |
|
|
rs1358599075 CA406438352 |
536 | G>V | No |
ClinGen TOPMed |
|
|
CA406438348 rs1234511920 |
537 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749959995 CA9523891 |
538 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764924429 CA9523890 |
539 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753571078 CA9523888 |
540 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9523887 rs763989847 |
540 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406438246 rs1377300216 |
545 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9523886 rs760504016 |
545 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309014500 rs760504016 |
545 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434262394 CA406438239 |
546 | L>F | No |
ClinGen gnomAD |
|
|
CA406438233 rs1423336433 |
547 | S>G | No |
ClinGen gnomAD |
|
|
CA9523885 rs775445488 |
547 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762951025 CA9523883 |
548 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309014447 rs1048475241 |
549 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406438213 rs1210987042 |
550 | L>P | No |
ClinGen gnomAD |
|
|
CA9523881 rs770001490 |
552 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406438196 rs1487545078 |
553 | L>F | No |
ClinGen TOPMed |
|
|
CA406438193 rs1193357348 |
553 | L>P | No |
ClinGen TOPMed |
|
|
rs1479141835 CA406438189 |
554 | T>N | No |
ClinGen TOPMed |
|
|
rs1269933051 CA406438190 |
554 | T>S | No |
ClinGen TOPMed |
|
|
CA9523877 rs747365457 |
555 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs769016741 CA9523878 |
555 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769016741 CA406438185 |
555 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406438166 rs1357292078 |
558 | V>M | No |
ClinGen gnomAD |
|
|
CA9523876 rs780545780 |
559 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs758989176 CA9523875 |
561 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039805926 CA309014419 |
564 | G>D | No |
ClinGen gnomAD |
|
|
CA9523872 rs573072205 |
564 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9523873 rs573072205 |
564 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309014412 rs867051022 |
565 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406438123 rs867051022 |
565 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1347103214 CA406438119 |
565 | A>V | No |
ClinGen TOPMed |
|
|
rs1258846497 CA406438117 |
566 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9523870 rs763673530 |
567 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA406438102 rs1235293162 |
568 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA309014402 rs539502585 |
570 | L>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs138091080 CA309014393 |
571 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138091080 CA9523868 |
571 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309014401 rs148441077 |
571 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 572 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980212803 CA309014390 |
572 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773247751 CA9523865 |
575 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs759539770 CA9523866 |
575 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406438035 rs761825704 |
579 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1431704566 CA406438038 |
579 | S>T | No |
ClinGen gnomAD |
|
|
rs142715646 CA9523862 |
580 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523860 rs747342691 |
581 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9523858 rs772700010 |
582 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523837 rs748770996 |
584 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9523836 rs777203548 |
585 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs755763364 CA9523835 |
585 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600502902 CA406437368 |
586 | I>K | No |
ClinGen Ensembl |
|
|
rs780848919 CA9523834 |
586 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs780848919 CA9523833 |
586 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA309013605 rs930316156 |
587 | K>M | No |
ClinGen TOPMed |
|
|
rs1600502887 CA406437345 |
590 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 591 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431226963 CA406437336 |
591 | S>N | No |
ClinGen gnomAD |
|
|
CA406437329 rs766247144 |
592 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs766247144 CA9523830 |
592 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766247144 CA406437328 |
592 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA406437311 rs1177661858 |
595 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758327063 CA9523829 |
598 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs145738629 CA9523828 COSM1228118 |
598 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746174762 CA309013556 |
599 | G>V | No |
ClinGen Ensembl |
|
|
rs1231384036 CA406437241 |
601 | K>E | No |
ClinGen gnomAD |
|
|
CA406437225 rs1308192914 |
602 | A>T | No |
ClinGen gnomAD |
|
|
rs767879673 CA9523824 |
602 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523822 rs774867426 |
603 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771454046 CA9523821 |
604 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9523820 rs763413063 |
605 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA406437170 rs1464249132 |
606 | S>F | No |
ClinGen gnomAD |
|
|
rs1365284751 CA406437121 |
610 | E>Q | No |
ClinGen gnomAD |
|
|
rs376599373 CA9523818 |
613 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772759820 CA9523819 |
613 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs747691806 CA9523817 |
614 | A>G | No |
ClinGen ExAC |
|
|
rs768312384 CA9523815 |
615 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523814 rs141706016 |
615 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141706016 CA406437024 |
615 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758323464 CA309013482 |
621 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758323464 CA9523812 |
621 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406436884 rs1180489120 COSM712295 |
622 | W>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs886669919 CA309013476 |
628 | N>S | No |
ClinGen gnomAD |
|
|
CA9523808 rs752824293 |
629 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406436730 rs1393865182 |
629 | A>V | No |
ClinGen gnomAD |
|
|
rs1456501107 CA406436718 |
630 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759892277 CA9523806 |
630 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406436721 rs1456501107 |
630 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406436690 COSM439810 rs1166977061 |
632 | A>D | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs770342351 CA9523802 |
633 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770342351 CA9523801 |
633 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523800 rs761256432 |
634 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523798 rs146919889 |
636 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA406436625 rs1430468709 |
636 | S>P | No |
ClinGen gnomAD |
|
|
CA9523799 rs146919889 |
636 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1463801025 CA406436608 |
637 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1214819220 CA406436579 |
638 | S>F | No |
ClinGen gnomAD |
|
|
CA406436575 rs1356264638 |
639 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406436566 rs1276989311 |
639 | L>P | No |
ClinGen gnomAD |
|
|
rs771713451 CA9523795 |
642 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523793 rs376531877 |
646 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406436380 rs1386123704 |
647 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 647 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406436381 rs1386123704 |
647 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9523792 rs757270027 |
648 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768801652 CA9523791 |
648 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406436324 rs1161450161 |
650 | L>S | No |
ClinGen gnomAD |
|
|
CA406436307 rs1463587214 |
651 | S>T | No |
ClinGen gnomAD |
|
|
CA406436277 rs1188145186 |
652 | G>D | No |
ClinGen gnomAD |
|
|
CA406436275 rs1188145186 |
652 | G>V | No |
ClinGen gnomAD |
|
|
CA406436215 rs1255210376 |
655 | E>K | No |
ClinGen gnomAD |
|
|
rs766659267 CA9523787 |
657 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA406436115 rs1451451872 |
659 | Q>H | No |
ClinGen gnomAD |
|
|
rs1288340214 CA406436102 |
660 | K>T | No |
ClinGen gnomAD |
|
|
CA406436048 rs1343647866 |
662 | G>E | No |
ClinGen gnomAD |
|
|
rs764615514 CA9523764 |
663 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406435805 rs764615514 |
663 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406435742 rs1473172682 |
665 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs775075039 CA9523762 |
668 | V>A | No |
ClinGen ExAC |
|
|
CA9523760 rs759297312 |
669 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA309012393 rs536424856 |
671 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1568612252 CA406435556 |
673 | L>V | No |
ClinGen Ensembl |
|
|
rs747537648 CA309012377 |
674 | I>V | No |
ClinGen gnomAD |
|
|
rs368274304 CA9523758 |
676 | E>D | No |
ClinGen ESP ExAC |
|
| TCGA novel | 676 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 676 | E>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229986222 CA406435446 |
677 | S>N | No |
ClinGen gnomAD |
|
|
CA406435418 rs1287615548 |
678 | A>S | No |
ClinGen gnomAD |
|
|
rs769869612 CA9523755 |
682 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236500837 CA406435307 |
682 | V>I | No |
ClinGen TOPMed |
|
|
rs778523291 CA9523754 |
683 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780247522 CA9523753 |
684 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA406435271 rs1357659697 |
684 | K>R | No |
ClinGen gnomAD |
|
|
CA309012316 rs988433660 |
687 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs915463666 CA406435188 |
687 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs915463666 CA309012330 |
687 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1191057207 CA406435135 |
688 | D>V | No |
ClinGen TOPMed |
|
|
rs781582819 COSM998330 CA9523724 |
691 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754446044 CA9523723 |
691 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9523721 rs766116418 |
692 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406434789 rs1368792864 |
693 | Y>C | No |
ClinGen gnomAD |
|
|
CA406434693 rs1363121855 |
696 | M>T | No |
ClinGen gnomAD |
|
|
rs928238238 CA309012033 |
698 | T>P | No |
ClinGen TOPMed |
|
|
CA406434648 rs1411095171 |
699 | L>R | No |
ClinGen gnomAD |
|
|
CA9523717 rs761537907 |
700 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776588460 CA9523716 |
700 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406434504 rs1166402265 |
705 | K>Q | No |
ClinGen gnomAD |
|
|
CA406434467 rs1434657332 |
705 | K>R | No |
ClinGen gnomAD |
|
|
CA9523715 rs768479666 |
706 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190509264 CA406434452 |
706 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs759551766 CA9523714 |
707 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406434393 rs1177360933 |
708 | S>F | No |
ClinGen gnomAD |
|
|
CA9523712 rs771138239 |
709 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523710 rs145063068 COSM439808 |
709 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145063068 CA9523711 |
709 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406434350 rs1171558010 |
710 | Q>P | No |
ClinGen TOPMed |
|
|
rs35490979 CA406434223 |
714 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309012001 rs1023323415 |
715 | H>Y | No |
ClinGen TOPMed |
|
|
rs200674455 CA406434149 |
717 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200674455 CA9523707 |
717 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755496244 CA9523706 |
718 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779755274 CA406434117 |
719 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779755274 CA9523704 |
719 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 720 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523702 rs531201055 |
721 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531201055 CA9523701 |
721 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1467283998 CA406434005 |
723 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1224600738 CA406433970 |
725 | K>E | No |
ClinGen TOPMed |
|
|
CA9523700 rs757008130 |
726 | D>Y | No |
ClinGen ExAC |
|
|
CA406433905 rs1377953438 |
727 | K>E | No |
ClinGen gnomAD |
|
|
CA406432152 rs1466514101 |
728 | V>A | No |
ClinGen gnomAD |
|
|
rs1202055852 CA406432171 |
728 | V>M | No |
ClinGen gnomAD |
|
|
rs780926621 CA9523675 |
729 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762965303 CA9523674 |
729 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406432103 rs1258376198 |
730 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1246340212 CA406432075 |
732 | A>T | No |
ClinGen gnomAD |
|
|
rs757087370 CA309011259 |
736 | I>V | No |
ClinGen Ensembl |
|
|
CA9523672 rs765492591 |
737 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9523671 rs761981429 |
738 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA406431955 rs777036662 |
738 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9523670 rs777036662 |
738 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1456586359 CA406431931 |
739 | M>I | No |
ClinGen gnomAD |
|
|
rs769097326 CA9523669 |
739 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA9523668 rs200272773 |
740 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406431835 rs751479569 |
743 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs563447071 CA9523667 |
744 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA406431795 rs1181926061 |
745 | L>Q | No |
ClinGen gnomAD |
|
|
CA9523665 rs374631540 |
746 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772718165 CA9523666 |
746 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188346657 CA406431770 |
747 | E>K | No |
ClinGen gnomAD |
|
|
CA406431729 rs1445696356 |
748 | Y>C | No |
ClinGen gnomAD |
|
|
CA406431669 rs1356375891 |
751 | K>R | No |
ClinGen gnomAD |
|
|
rs1264378024 CA406431615 |
753 | A>V | No |
ClinGen gnomAD |
|
|
rs778350604 CA9523664 |
754 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA406431591 rs1284265183 |
755 | N>D | No |
ClinGen TOPMed |
|
|
CA406431589 rs1156257024 |
755 | N>T | No |
ClinGen gnomAD |
|
|
CA406431498 rs1465754555 |
759 | L>P | No |
ClinGen TOPMed |
|
|
CA406431399 rs1449208745 |
764 | N>S | No |
ClinGen TOPMed |
|
|
rs777424373 CA9523661 |
766 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781096060 CA9523658 |
770 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA406431264 rs1168272295 |
773 | D>N | No |
ClinGen gnomAD |
|
|
CA406431236 rs1248839813 |
774 | K>N | No |
ClinGen gnomAD |
|
|
CA9523656 rs750484955 |
774 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 775 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200143424 CA406431207 |
777 | E>K | No |
ClinGen gnomAD |
|
|
CA9523631 rs559292104 |
783 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1260030600 CA406430575 |
786 | T>S | No |
ClinGen TOPMed |
|
|
CA309010384 rs1001480376 |
787 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406430497 rs1411974612 |
790 | C>Y | No |
ClinGen gnomAD |
|
|
rs1600497502 CA406430464 |
792 | Y>S | No |
ClinGen Ensembl |
|
|
CA406430433 rs1309963823 |
794 | Y>C | No |
ClinGen gnomAD |
|
|
rs1309963823 CA406430435 |
794 | Y>S | No |
ClinGen gnomAD |
|
|
CA9523626 rs771470795 |
798 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523625 rs762357569 |
799 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1600497460 CA406430297 |
802 | H>D | No |
ClinGen Ensembl |
|
|
CA9523624 rs772778557 |
803 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309010289 rs940047248 |
806 | H>Y | No |
ClinGen Ensembl |
|
|
rs769406464 CA9523623 |
809 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1284978859 CA406430107 |
813 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 813 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758416084 CA406430009 |
817 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758416084 CA9523617 |
817 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406430000 rs1388534164 |
818 | D>N | No |
ClinGen gnomAD |
|
|
rs778035067 CA9523615 |
819 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9523614 rs756379160 |
821 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406429941 rs1401120334 COSM998327 |
821 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA9523612 rs767812215 |
822 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1600497353 CA406429901 |
823 | V>G | No |
ClinGen Ensembl |
|
|
CA9523609 rs766793642 |
826 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1190252838 CA406429849 |
827 | I>T | No |
ClinGen gnomAD |
|
|
CA406429859 rs1330453315 |
827 | I>V | No |
ClinGen TOPMed |
|
|
CA309010189 rs901205986 |
830 | P>L | No |
ClinGen TOPMed |
|
|
CA9523582 rs775120784 |
831 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9523581 rs771846841 |
832 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9523580 rs367969885 |
832 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9523579 rs528434590 |
834 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406429485 rs1310321360 |
838 | S>C | No |
ClinGen gnomAD |
|
|
CA9523577 rs748224488 |
839 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406429431 rs1361106748 |
847 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 853 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758699521 CA9523570 |
859 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1313192340 CA406429319 |
864 | T>A | No |
ClinGen gnomAD |
|
|
CA406429315 rs1283178904 |
864 | T>I | No |
ClinGen gnomAD |
|
|
rs779382620 CA9523568 |
866 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs950952798 CA309008700 |
870 | S>A | No |
ClinGen Ensembl |
|
|
CA406429258 rs1362156007 |
872 | E>K | No |
ClinGen gnomAD |
|
|
rs778170949 CA9523546 |
876 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309008694 rs977583970 |
876 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9523544 rs752160318 |
878 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406429221 rs1182121346 |
878 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1249158089 CA406429218 |
879 | D>Y | No |
ClinGen gnomAD |
|
|
rs1205113317 CA406429200 |
881 | Y>C | No |
ClinGen gnomAD |
|
|
CA9523543 rs767265827 |
882 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1246453482 CA406429181 |
884 | R>G | No |
ClinGen gnomAD |
|
|
rs1353213414 CA406429177 |
884 | R>L | No |
ClinGen TOPMed |
|
|
CA406429171 rs1359686882 |
886 | P>S | No |
ClinGen gnomAD |
|
|
CA9523539 rs762689954 |
888 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773136826 CA9523538 |
889 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371771615 CA9523535 |
896 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161948180 CA406429101 |
897 | G>R | No |
ClinGen gnomAD |
|
|
rs775522588 CA406428427 |
905 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523515 rs775522588 |
905 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309006562 rs1034415019 |
910 | L>F | No |
ClinGen TOPMed |
|
|
rs538965174 CA309006550 |
910 | L>R | No |
ClinGen 1000Genomes |
|
|
rs759641739 CA9523513 |
911 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA406428310 rs1600494335 |
914 | N>T | No |
ClinGen Ensembl |
|
|
CA406428278 rs1600494326 |
916 | I>V | No |
ClinGen Ensembl |
|
|
CA9523511 rs771071230 |
923 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA406428130 rs1600494317 |
923 | N>T | No |
ClinGen Ensembl |
|
|
rs749650196 CA9523510 |
924 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA406428064 rs1196631615 |
927 | G>D | No |
ClinGen gnomAD |
|
|
CA406428073 rs1374939856 |
927 | G>S | No |
ClinGen gnomAD |
|
|
CA406428006 rs1219783701 |
930 | H>R | No |
ClinGen TOPMed |
|
|
rs922019232 CA309005555 |
934 | N>S | No |
ClinGen Ensembl |
|
|
CA9523479 rs777672570 |
935 | S>L | No |
ClinGen ExAC |
|
| TCGA novel | 936 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406427649 rs1316044863 |
937 | L>S | No |
ClinGen gnomAD |
|
|
rs763125062 CA9523476 |
939 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9523475 rs763125062 |
939 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406427608 rs763125062 |
939 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 947 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523471 rs777206029 |
947 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761317595 CA9523469 |
948 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523468 rs776091367 |
948 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9523466 rs778369218 |
952 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs770625290 CA9523464 |
952 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778369218 CA9523465 |
952 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 953 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 953 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523461 rs199576296 |
955 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406427299 rs1292762623 |
956 | K>R | No |
ClinGen gnomAD |
|
|
CA309005474 rs1033820860 |
958 | D>N | No |
ClinGen TOPMed |
|
|
rs752528127 CA9523460 |
959 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9523459 rs781194558 |
963 | I>M | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1432150235 CA406424672 |
971 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9523399 rs760395766 |
973 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9523400 rs376169646 |
973 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775506129 CA9523398 |
974 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372937364 CA9523397 |
975 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372937364 CA9523396 |
975 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406424571 rs1177363682 |
977 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 979 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252091782 CA406424531 |
980 | V>L | No |
ClinGen TOPMed |
|
|
CA309004009 rs913374048 |
985 | M>T | No |
ClinGen Ensembl |
|
|
rs184236600 CA309004005 |
990 | E>* | No |
ClinGen Ensembl |
|
|
rs193031994 CA309003995 |
990 | E>D | No |
ClinGen gnomAD |
|
|
CA9523393 rs748351881 |
992 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523394 rs748351881 |
992 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309003991 rs983289334 |
996 | M>V | No |
ClinGen TOPMed |
|
|
rs755303065 CA9523391 |
1006 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA406424071 rs1298920233 |
1007 | T>I | No |
ClinGen TOPMed |
|
|
CA406424048 rs1204233147 |
1008 | M>I | No |
ClinGen gnomAD |
|
|
CA406424055 rs1244878380 |
1008 | M>T | No |
ClinGen gnomAD |
|
|
rs1456325564 CA406424063 |
1008 | M>V | No |
ClinGen gnomAD |
|
|
rs780536026 CA9523390 |
1009 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523389 rs780536026 |
1009 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406424013 rs1276624042 |
1010 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406424015 rs1276624042 |
1010 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758945123 CA9523388 |
1011 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749914244 CA9523387 |
1011 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1014 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523385 rs761263802 |
1014 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763663438 CA9523383 |
1016 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1017 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406423832 rs1358025119 |
1022 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201053291 CA9523382 |
1022 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9523363 rs752515617 |
1029 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1600487114 CA406422613 |
1031 | Y>S | No |
ClinGen Ensembl |
|
|
CA406422592 rs1172396122 |
1032 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406422598 rs1347909992 |
1032 | P>S | No |
ClinGen gnomAD |
|
|
rs1438823785 CA406422581 |
1033 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1034 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309003440 rs867004476 |
1035 | W>C | No |
ClinGen Ensembl |
|
|
rs1168586162 CA406422546 |
1036 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776616150 CA9523357 |
1044 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs988424674 CA309003427 |
1044 | R>H | No |
ClinGen gnomAD |
|
|
CA9523356 rs768902328 |
1045 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354562880 CA406422380 |
1047 | P>T | No |
ClinGen TOPMed |
|
|
rs1193187664 CA406422362 |
1048 | Q>R | No |
ClinGen gnomAD |
|
|
CA9523355 rs747186497 |
1049 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs147142432 CA9523354 |
1050 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1032061724 CA309003417 |
1057 | P>S | No |
ClinGen gnomAD |
|
|
CA406422136 rs1470963474 |
1066 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1072 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746240919 CA9523352 |
1072 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs896122874 CA309003413 |
1072 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1289286686 CA406422024 |
1074 | P>T | No |
ClinGen TOPMed |
|
|
CA9523351 rs779466966 |
1076 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA406421994 rs1178105655 |
1077 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406421997 rs1178105655 |
1077 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1077 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199742453 CA9523350 |
1078 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748803664 CA9523349 |
1080 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748803664 CA406421957 |
1080 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406421953 rs1206130812 |
1080 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA309003403 rs1013084534 |
1081 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA309003396 rs374158190 |
1083 | T>N | No |
ClinGen gnomAD |
|
|
CA406421918 rs1600486874 |
1083 | T>P | No |
ClinGen Ensembl |
|
|
rs1208876810 CA406421901 |
1084 | P>L | No |
ClinGen gnomAD |
|
|
CA406421894 rs1002087292 |
1085 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1002087292 CA309003390 |
1085 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA309003385 rs558439916 |
1085 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| rs749354800 | 1085 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406421896 rs1002087292 |
1085 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1306903529 CA406421881 |
1086 | Q>K | No |
ClinGen gnomAD |
|
|
CA406421876 rs1454542158 |
1086 | Q>R | No |
ClinGen gnomAD |
|
|
rs1170732314 CA406421778 |
1088 | A>V | No |
ClinGen gnomAD |
|
|
rs1477246229 CA406421751 |
1090 | I>T | No |
ClinGen gnomAD |
|
|
rs765170255 CA9523313 |
1091 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs752837707 CA9523311 |
1095 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1095 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1096 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523309 rs368032373 |
1097 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9523308 rs774658203 |
1101 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs774658203 CA406421615 |
1101 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771161602 CA406421602 |
1102 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771161602 CA9523307 |
1102 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406421569 rs1316161337 |
1104 | Q>H | No |
ClinGen gnomAD |
|
|
rs1234279275 CA406421540 |
1106 | P>A | No |
ClinGen gnomAD |
|
|
CA406421533 rs1234279275 |
1106 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1107 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406421494 rs1330835337 |
1108 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406421476 rs1321963221 |
1109 | K>R | No |
ClinGen gnomAD |
|
|
CA9523305 rs773798585 |
1110 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393537573 CA406421450 |
1110 | E>G | No |
ClinGen gnomAD |
|
|
rs1331325499 CA406421438 |
1111 | A>T | No |
ClinGen gnomAD |
|
|
CA9523304 rs770481797 |
1111 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402375857 CA406421393 |
1113 | A>P | No |
ClinGen TOPMed |
|
|
CA406421390 rs1402375857 |
1113 | A>S | No |
ClinGen TOPMed |
|
|
CA309003239 rs943389564 |
1113 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs577964906 CA9523300 |
1114 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406421364 rs577964906 |
1114 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558427217 CA9523298 |
1115 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9523297 rs750287347 |
1117 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751719892 CA9523271 |
1119 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1417702681 CA406421117 |
1119 | D>N | No |
ClinGen gnomAD |
|
|
rs1235830952 CA406421020 |
1123 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406421018 rs1235830952 |
1123 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868062445 CA309003102 |
1123 | P>S | No |
ClinGen gnomAD |
|
|
CA406421031 rs868062445 |
1123 | P>T | No |
ClinGen gnomAD |
|
|
CA406420947 rs1323896594 |
1127 | A>D | No |
ClinGen gnomAD |
|
|
CA406420923 rs1354975674 |
1128 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1354975674 CA406420925 |
1128 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1228287484 CA406420932 |
1128 | P>S | No |
ClinGen gnomAD |
|
|
CA9523263 rs760095220 |
1129 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9523264 rs764717469 |
1129 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760095220 CA406420906 |
1129 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406420903 rs1018124221 |
1130 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1428311868 CA406420888 |
1130 | P>L | No |
ClinGen gnomAD |
|
|
CA309003089 rs1018124221 |
1130 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9523261 rs771605185 |
1131 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs771605185 CA9523262 |
1131 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9523260 rs745477965 |
1131 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406420865 rs1404676434 |
1132 | P>S | No |
ClinGen gnomAD |
|
|
CA406420845 rs1478222874 |
1133 | R>Q | No |
ClinGen gnomAD |
|
|
rs770648045 CA9523258 |
1133 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9523256 rs201106907 |
1134 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523257 rs749097247 |
1134 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756144603 CA9523255 |
1135 | P>H | No |
ClinGen ExAC |
|
|
rs756144603 CA406420812 |
1135 | P>L | No |
ClinGen ExAC |
|
|
CA406420819 rs1247681961 |
1135 | P>S | No |
ClinGen gnomAD |
|
|
CA406420810 rs1221355417 |
1136 | Q>K | No |
ClinGen gnomAD |
|
|
CA406420796 rs1443928468 |
1136 | Q>R | No |
ClinGen gnomAD |
|
|
CA9523254 rs549521843 |
1138 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1318017781 CA406420578 |
1148 | A>D | No |
ClinGen gnomAD |
|
|
rs1318017781 CA406420575 |
1148 | A>V | No |
ClinGen gnomAD |
|
|
rs529476142 CA309003073 |
1151 | R>Q | No |
ClinGen 1000Genomes |
|
|
rs1212473267 CA406420542 |
1151 | R>W | No |
ClinGen gnomAD |
|
|
CA406420533 rs1369347430 |
1152 | Q>* | No |
ClinGen gnomAD |
|
|
CA406420490 rs962119819 |
1155 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs962119819 CA309003071 |
1155 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368893502 CA309003072 |
1155 | E>K | No |
ClinGen Ensembl |
|
|
rs939630621 CA309003070 |
1157 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406420396 rs1466150023 |
1161 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406420376 rs1471567464 |
1163 | G>E | No |
ClinGen TOPMed |
|
|
CA9523250 rs765568871 |
1164 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA406420343 rs1435104229 |
1166 | A>S | No |
ClinGen gnomAD |
|
|
rs1426183839 CA406420337 |
1166 | A>V | No |
ClinGen gnomAD |
|
|
CA9523248 rs188360728 |
1167 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9523249 rs757680507 |
1167 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1168 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523245 rs533351853 |
1169 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309003062 rs533351853 |
1169 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256893363 CA406420313 |
1169 | S>P | No |
ClinGen gnomAD |
|
|
rs1409748062 CA406420289 |
1171 | S>P | No |
ClinGen TOPMed |
|
|
CA9523243 rs201374282 |
1172 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406420276 rs1218368905 |
1172 | P>S | No |
ClinGen gnomAD |
|
|
rs1311320992 CA406420265 |
1173 | S>A | No |
ClinGen gnomAD |
|
|
rs773937095 CA9523242 |
1173 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406420261 rs773937095 |
1173 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311320992 CA406420266 |
1173 | S>T | No |
ClinGen gnomAD |
|
|
rs374029281 CA406420257 |
1174 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374029281 CA9523239 |
1174 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359946733 CA406420236 |
1175 | S>C | No |
ClinGen gnomAD |
|
|
rs1359946733 CA406420239 |
1175 | S>F | No |
ClinGen gnomAD |
|
|
rs1467705499 CA406420244 |
1175 | S>P | No |
ClinGen gnomAD |
|
|
CA9523237 rs769497793 |
1176 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769497793 CA9523236 |
1176 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406420234 rs1433174725 |
1176 | P>T | No |
ClinGen gnomAD |
|
|
CA406420215 rs1179755850 |
1177 | S>L | No |
ClinGen gnomAD |
|
|
CA9523233 rs780994965 |
1178 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236955791 CA406420207 |
1178 | A>S | No |
ClinGen gnomAD |
|
|
rs780994965 CA406420202 |
1178 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523232 rs772219368 |
1179 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA406420199 rs1256158863 |
1179 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA406420183 rs1240648306 |
1180 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406420185 rs1240648306 |
1180 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1287868566 CA406420188 |
1180 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1181 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406420175 rs1304853535 |
1181 | G>D | No |
ClinGen gnomAD |
|
|
CA9523230 rs779271352 |
1181 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379988840 CA406420158 |
1182 | P>L | No |
ClinGen gnomAD |
|
|
rs756470260 CA9523226 |
1183 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9523227 rs778154800 |
1183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406420155 rs778154800 |
1183 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA406420147 rs148068166 |
1184 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143595032 CA9523223 |
1184 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406420143 rs143595032 |
1184 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148068166 CA9523225 |
1184 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148068166 CA9523224 |
1184 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361313427 CA406420134 |
1185 | S>P | No |
ClinGen TOPMed |
|
|
rs765984978 CA9523221 |
1188 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9523222 rs751138455 |
1188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765984978 CA406420087 |
1188 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs556054133 CA309003046 |
1189 | M>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs533910429 CA309003047 |
1189 | M>V | No |
ClinGen gnomAD |
|
|
rs772769222 CA9523219 |
1190 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1190 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217503686 CA406420053 |
1191 | F>L | No |
ClinGen Ensembl |
|
|
CA309003045 rs1031089813 |
1192 | R>Q | No |
ClinGen gnomAD |
|
|
rs769564643 CA9523218 |
1193 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769564643 CA406420021 |
1193 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547665401 CA309003044 |
1195 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9523217 rs547665401 |
1195 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA406419999 rs1217046996 |
1195 | G>R | No |
ClinGen gnomAD |
|
|
CA309003042 rs112323529 |
1196 | P>L | No |
ClinGen Ensembl |
|
|
CA9523216 rs776616722 |
1197 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9523215 rs768778382 |
1198 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768778382 CA406419928 |
1198 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406419905 rs1345444238 |
1199 | E>A | No |
ClinGen TOPMed |
|
|
CA406419874 rs1233186989 |
1200 | T>I | No |
ClinGen TOPMed |
|
|
CA9523212 rs771154064 |
1201 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs779179333 CA9523213 |
1201 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777867103 CA9523210 |
1203 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9523208 rs753063561 |
1205 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA406419700 rs1446171677 CA406419703 CA406419706 |
1207 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9523203 CA9523204 rs757850855 |
1207 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523201 rs750032251 |
1207 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523202 rs757850855 |
1207 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523200 rs764853848 |
1208 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA406419685 rs764853848 |
1208 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA309003026 rs149315096 |
1209 | D>V | No |
ClinGen ESP |
|
|
CA406419615 rs947907264 |
1210 | D>E | No |
ClinGen TOPMed |
|
|
rs1211464607 CA406419644 |
1210 | D>N | No |
ClinGen gnomAD |
|
|
rs1384306600 CA406419593 |
1211 | S>L | No |
ClinGen TOPMed |
|
|
rs761661728 CA9523197 |
1212 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA309003022 rs931224855 |
1215 | E>A | No |
ClinGen TOPMed |
|
|
rs1218278562 CA406419514 |
1215 | E>D | No |
ClinGen gnomAD |
|
|
CA406419488 rs1303824658 |
1217 | A>T | No |
ClinGen gnomAD |
|
|
rs1390626203 CA406419462 |
1218 | L>P | No |
ClinGen gnomAD |
|
|
CA406419417 rs1600484823 |
1220 | D>A | No |
ClinGen Ensembl |
|
|
rs1259668044 CA406419397 |
1221 | S>C | No |
ClinGen TOPMed |
|
|
rs1170886574 CA406419372 |
1222 | S>I | No |
ClinGen gnomAD |
|
|
rs368026587 CA9523190 |
1223 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368026587 CA9523189 |
1223 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9523191 rs749343135 |
1223 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA406419315 rs1568604225 |
1225 | G>D | No |
ClinGen Ensembl |
|
|
rs755358842 CA406419297 |
1226 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523186 rs755358842 |
1226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781586274 CA9523187 |
1226 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9523184 rs780552525 |
1227 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406419254 rs1363357840 |
1229 | K>E | No |
ClinGen TOPMed |
|
|
rs749967496 CA9523182 |
1229 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1568604038 CA406419069 |
1231 | T>A | No |
ClinGen Ensembl |
|
|
rs1236847998 CA406419053 |
1231 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9523147 rs564264351 |
1232 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9523148 rs533280327 |
1232 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs541272706 CA9523146 |
1233 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523145 rs201620603 |
1233 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9523144 rs748866700 |
1234 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406418988 rs1214148147 |
1235 | G>E | No |
ClinGen gnomAD |
|
|
rs1185829750 CA406418928 |
1239 | K>E | No |
ClinGen TOPMed |
|
|
CA9523141 rs752519438 |
1242 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9523142 rs752519438 |
1242 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA309002923 rs754835710 |
1243 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754835710 CA9523139 |
1243 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523137 rs766395793 |
1246 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA406418747 rs1351533600 |
1247 | L>F | No |
ClinGen gnomAD |
|
|
rs1460950394 CA406418724 |
1248 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406418696 rs1204131288 |
1249 | P>R | No |
ClinGen gnomAD |
|
|
rs764275989 CA9523134 |
1249 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406418686 rs1804616 |
1250 | V>I | No |
ClinGen gnomAD |
|
|
rs1804616 CA309002913 |
1250 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1251 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9523132 rs775809664 |
1253 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA406418594 rs1429295826 |
1254 | A>T | No |
ClinGen TOPMed |
|
|
CA9523127 rs748780484 |
1255 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9523129 rs771636765 |
1255 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs771636765 CA9523128 |
1255 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA406418506 rs1200024959 |
1257 | T>N | No |
ClinGen gnomAD |
|
|
rs1270703417 CA406418513 |
1257 | T>S | No |
ClinGen gnomAD |
|
|
CA9523125 rs769451270 |
1258 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769451270 CA406418490 |
1258 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9523124 rs145662570 |
1260 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145662570 CA9523123 |
1260 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406418449 rs1301634228 |
1261 | A>P | No |
ClinGen TOPMed |
|
|
CA406418435 rs1369469844 |
1261 | A>V | No |
ClinGen gnomAD |
|
|
rs1304005589 CA406418425 |
1262 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406418431 rs1304005589 |
1262 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746886409 CA9523121 |
1263 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA406418408 rs1368751708 |
1263 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406418351 rs1286479930 |
1265 | A>S | No |
ClinGen TOPMed |
|
|
rs779823965 CA9523120 |
1265 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406418321 rs1265965943 |
1266 | R>S | No |
ClinGen TOPMed |
|
|
rs1416477196 CA406418259 |
1269 | E>* | No |
ClinGen gnomAD |
|
|
rs758378340 CA9523119 |
1269 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1191537069 CA406418233 |
1270 | A>T | No |
ClinGen TOPMed |
|
|
rs756188502 CA9523116 |
1272 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764114714 CA406418190 CA9523117 |
1272 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600484100 CA406418112 |
1275 | S>G | No |
ClinGen Ensembl |
No associated diseases with Q92797
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mRNA cleavage and polyadenylation specificity factor complex | A multisubunit complex that binds to the canonical AAUAAA hexamer and to U-rich upstream sequence elements on the pre-mRNA, thereby stimulating the otherwise weakly active and nonspecific polymerase to elongate efficiently RNAs containing a poly(A) signal. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nuclear stress granule | A dense aggregation in the nucleus composed of proteins and RNAs that appear when the cell is under stress. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| mRNA polyadenylation | The enzymatic addition of a sequence of 40-200 adenylyl residues at the 3' end of a eukaryotic mRNA primary transcript. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| positive regulation of protein dephosphorylation | Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q80X82 | Sympk | Symplekin | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGSGDSVT | RRSVASQFFT | QEEGPGIDGM | TTSERVVDLL | NQAALITNDS | KITVLKQVQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LIINKDPTLL | DNFLDEIIAF | QADKSIEVRK | FVIGFIEEAC | KRDIELLLKL | IANLNMLLRD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENVNVVKKAI | LTMTQLYKVA | LQWMVKSRVI | SELQEACWDM | VSAMAGDIIL | LLDSDNDGIR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| THAIKFVEGL | IVTLSPRMAD | SEIPRRQEHD | ISLDRIPRDH | PYIQYNVLWE | EGKAALEQLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KFMVHPAISS | INLTTALGSL | ANIARQRPMF | MSEVIQAYET | LHANLPPTLA | KSQVSSVRKN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LKLHLLSVLK | HPASLEFQAQ | ITTLLVDLGT | PQAEIARNMP | SSKDTRKRPR | DDSDSTLKKM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLEPNLGEDD | EDKDLEPGPS | GTSKASAQIS | GQSDTDITAE | FLQPLLTPDN | VANLVLISMV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YLPEAMPASF | QAIYTPVESA | GTEAQIKHLA | RLMATQMTAA | GLGPGVEQTK | QCKEEPKEEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VVKTESVLIK | RRLSAQGQAI | SVVGSLSSMS | PLEEEAPQAK | RRPEPIIPVT | QPRLAGAGGR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KKIFRLSDVL | KPLTDAQVEA | MKLGAVKRIL | RAEKAVACSG | AAQVRIKILA | SLVTQFNSGL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KAEVLSFILE | DVRARLDLAF | AWLYQEYNAY | LAAGASGSLD | KYEDCLIRLL | SGLQEKPDQK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DGIFTKVVLE | APLITESALE | VVRKYCEDES | RTYLGMSTLR | DLIFKRPSRQ | FQYLHVLLDL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SSHEKDKVRS | QALLFIKRMY | EKEQLREYVE | KFALNYLQLL | VHPNPPSVLF | GADKDTEVAA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PWTEETVKQC | LYLYLALLPQ | NHKLIHELAA | VYTEAIADIK | RTVLRVIEQP | IRGMGMNSPE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLLLVENCPK | GAETLVTRCL | HSLTDKVPPS | PELVKRVRDL | YHKRLPDVRF | LIPVLNGLEK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KEVIQALPKL | IKLNPIVVKE | VFNRLLGTQH | GEGNSALSPL | NPGELLIALH | NIDSVKCDMK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SIIKATNLCF | AERNVYTSEV | LAVVMQQLME | QSPLPMLLMR | TVIQSLTMYP | RLGGFVMNIL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SRLIMKQVWK | YPKVWEGFIK | CCQRTKPQSF | QVILQLPPQQ | LGAVFDKCPE | LREPLLAHVR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SFTPHQQAHI | PNSIMTILEA | SGKQEPEAKE | APAGPLEEDD | LEPLTLAPAP | APRPPQDLIG |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LRLAQEKALK | RQLEEEQKLK | PGGVGAPSSS | SPSPSPSARP | GPPPSEEAMD | FREEGPECET |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| PGIFISMDDD | SGLTEAALLD | SSLEGPLPKE | TAAGGLTLKE | ERSPQTLAPV | GEDAMKTPSP |
| 1270 | |||||
| AAEDAREPEA | KGNS |