Q8WWM7
PR
Gene name |
ATXN2L (A2D, A2LG, A2LP, A2RP) |
Protein name |
Ataxin-2-like protein |
Names |
Ataxin-2 domain protein, Ataxin-2-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11273 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8WWM7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WWM7-F1 | Predicted | AlphaFoldDB |
833 variants for Q8WWM7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1596911741 RCV000850414 CA395399754 |
315 | M>T | Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7984112 rs758850495 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1434593915 CA395394715 |
5 | Q>E | No |
ClinGen gnomAD |
|
|
CA279222348 rs766886109 |
5 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751960315 CA395394737 |
6 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751960315 CA7984115 |
6 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265294488 CA395394746 |
7 | L>P | No |
ClinGen gnomAD |
|
|
rs780877641 CA7984117 |
8 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984118 rs747808120 |
9 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs866138564 CA279222352 |
10 | P>H | No |
ClinGen Ensembl |
|
|
CA7984119 rs375119988 |
10 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464984319 CA395394807 |
12 | Q>L | No |
ClinGen gnomAD |
|
|
CA7984121 rs200105918 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7984125 rs745717480 |
17 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745717480 CA7984126 |
17 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372829216 CA395394885 |
18 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7984128 rs372829216 |
18 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190239427 CA395394902 |
19 | T>R | No |
ClinGen TOPMed |
|
| rs770993364 | 19 | T>R | Variant assessed as Somatic; 7.047e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763055862 CA7984131 |
20 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752045004 CA279222387 |
22 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752045004 CA7984133 |
22 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241757458 CA395394941 |
23 | V>M | No |
ClinGen gnomAD |
|
|
CA7984135 rs767868962 |
24 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984136 rs767868962 |
24 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395394967 rs1268731500 |
25 | R>H | No |
ClinGen TOPMed |
|
|
CA395394974 rs1310198638 |
26 | R>Q | No |
ClinGen TOPMed |
|
|
CA7984138 rs777454949 |
26 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986608218 CA395394985 |
27 | P>H | No |
ClinGen gnomAD |
|
|
rs986608218 CA279222409 |
27 | P>L | No |
ClinGen gnomAD |
|
|
CA395394983 rs1300384267 |
27 | P>S | No |
ClinGen TOPMed |
|
|
CA7984140 rs756781440 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7984141 TCGA novel rs531518549 |
29 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 30 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772096309 CA7984143 |
30 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395395019 rs1408406946 |
30 | G>D | No |
ClinGen gnomAD |
|
|
rs1321782477 CA395395033 |
31 | T>S | No |
ClinGen TOPMed |
|
|
rs1388483981 CA395395029 |
31 | T>S | No |
ClinGen TOPMed |
|
|
rs947540557 CA279222415 |
34 | P>S | No |
ClinGen Ensembl |
|
|
rs746777628 CA7984145 |
35 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769946937 CA7984146 |
36 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs773476957 CA7984147 |
37 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395395109 rs1396513310 |
38 | L>F | No |
ClinGen TOPMed |
|
|
CA395395127 rs1291679120 |
39 | P>L | No |
ClinGen gnomAD |
|
|
CA395395144 rs1248165530 |
41 | P>S | No |
ClinGen TOPMed |
|
|
CA395395169 rs1233456996 |
43 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7984151 rs760064808 |
45 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767993566 CA7984152 |
46 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341728920 CA395395227 |
48 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395395265 rs1482655310 |
52 | P>T | No |
ClinGen gnomAD |
|
|
CA7984154 rs761101605 |
53 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs924833789 CA279222435 |
54 | A>T | No |
ClinGen TOPMed |
|
|
CA395395298 rs1226525224 |
55 | A>S | No |
ClinGen TOPMed |
|
|
rs1226453948 CA395395313 |
57 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7984156 rs753542700 |
58 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395395325 rs1249779456 |
59 | L>V | No |
ClinGen Ensembl |
|
|
rs756794380 CA7984157 |
60 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1384406072 CA395395355 |
61 | P>L | No |
ClinGen TOPMed |
|
|
CA395395362 rs1400709440 |
62 | V>G | No |
ClinGen TOPMed |
|
|
rs1463772199 CA395395356 |
62 | V>M | No |
ClinGen gnomAD |
|
|
rs948524340 CA279222439 |
67 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395395435 rs1408496764 |
68 | G>E | No |
ClinGen gnomAD |
|
|
CA395395444 rs1187490359 |
69 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA279222442 rs955240276 |
69 | L>H | No |
ClinGen TOPMed |
|
|
CA395395493 rs1305512138 |
73 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395395510 rs1368976060 |
75 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs888324410 CA279222444 |
76 | I>M | No |
ClinGen TOPMed |
|
|
rs1015527338 CA279222447 |
79 | P>L | No |
ClinGen TOPMed |
|
|
rs1004412705 CA279222446 |
79 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395395574 rs1229712500 |
80 | Q>P | No |
ClinGen TOPMed |
|
|
rs1015795160 CA279222451 |
82 | P>L | No |
ClinGen TOPMed |
|
|
CA395395628 rs1275001677 |
84 | P>Q | Variant assessed as Somatic; 0.0003897 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs901060231 CA279222454 |
84 | P>S | No |
ClinGen gnomAD |
|
|
CA279222456 rs997536609 |
85 | Q>P | No |
ClinGen TOPMed |
|
|
CA395395640 rs997536609 |
85 | Q>R | No |
ClinGen TOPMed |
|
|
rs1596831581 CA395395658 |
86 | Q>H | No |
ClinGen Ensembl |
|
|
rs1030360499 CA279222458 |
86 | Q>P | No |
ClinGen Ensembl |
|
|
rs758457893 CA7984161 |
87 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306642089 CA395395664 |
87 | H>Y | No |
ClinGen TOPMed |
|
|
CA395395690 rs1169099470 |
88 | Q>H | No |
ClinGen TOPMed |
|
|
rs1270935838 CA395395779 |
95 | A>V | No |
ClinGen gnomAD |
|
|
CA279222470 rs973757255 |
96 | I>N | No |
ClinGen TOPMed |
|
|
CA279222472 rs986271757 |
97 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs968923066 CA279222485 |
99 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA279222488 rs977966044 |
99 | A>V | No |
ClinGen TOPMed |
|
|
CA395395837 rs1165074003 |
100 | R>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 103 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 103 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204951289 CA395396851 |
104 | T>R | No |
ClinGen gnomAD |
|
|
rs761275768 CA7984190 |
105 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7984191 rs571433326 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246797535 CA395396882 |
109 | P>L | No |
ClinGen gnomAD |
|
|
CA279223486 rs552136191 |
110 | Q>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs942860138 CA279223488 |
111 | S>L | No |
ClinGen Ensembl |
|
|
rs1183206001 CA395396922 |
114 | F>C | No |
ClinGen Ensembl |
|
|
CA7984218 rs148169914 |
117 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148169914 CA395396940 |
117 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395396957 rs1434664265 |
119 | N>S | No |
ClinGen gnomAD |
|
|
rs1342668342 CA395396962 |
120 | N>D | No |
ClinGen gnomAD |
|
|
rs763907928 CA7984221 |
123 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198411438 CA395397020 |
128 | T>K | No |
ClinGen gnomAD |
|
|
CA395397035 rs1269540670 |
131 | V>L | No |
ClinGen gnomAD |
|
| rs1233525199 | 132 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307566492 CA395397059 |
133 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395397113 rs1472168448 |
140 | K>N | No |
ClinGen TOPMed |
|
|
CA395397119 rs1237612559 |
141 | N>S | No |
ClinGen TOPMed |
|
|
rs1368772393 CA395397134 |
143 | T>I | No |
ClinGen gnomAD |
|
|
CA395397136 rs1207094863 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs768650089 CA7984258 |
144 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768650089 CA7984259 |
144 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7984260 rs375789363 |
145 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA279223788 rs140718642 |
146 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs750191725 CA7984262 |
146 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7984264 rs767753186 |
150 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7984265 rs767753186 |
150 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA395397792 rs372682331 CA7984292 |
160 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372682331 CA7984293 |
160 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395397799 rs1322322052 |
161 | D>N | No |
ClinGen gnomAD |
|
|
rs142953622 CA7984296 |
165 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA279224178 rs750820208 |
165 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7984295 rs142953622 |
165 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747667397 CA7984297 |
166 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs910615988 CA279224184 |
167 | A>G | No |
ClinGen TOPMed |
|
|
COSM309394 COSM309393 CA7984299 rs577021613 |
172 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA395397954 rs1423811295 |
173 | G>A | No |
ClinGen gnomAD |
|
|
rs1415141796 CA395397949 |
173 | G>R | No |
ClinGen gnomAD |
|
|
rs1415141796 CA395397947 |
173 | G>S | No |
ClinGen gnomAD |
|
|
rs1163493993 CA395397973 |
175 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1415035922 CA395397975 |
175 | R>H | No |
ClinGen gnomAD |
|
|
CA395397979 rs1415035922 |
175 | R>L | No |
ClinGen gnomAD |
|
|
rs1320843988 CA395397984 |
176 | R>Q | No |
ClinGen gnomAD |
|
|
rs200784244 CA7984300 |
176 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7984302 rs774250605 |
181 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1304444139 CA395398063 |
182 | T>A | No |
ClinGen gnomAD |
|
|
CA395398066 rs1379720849 |
182 | T>I | No |
ClinGen gnomAD |
|
|
CA279224206 rs964611671 |
183 | M>I | No |
ClinGen TOPMed |
|
|
rs764393307 CA7984304 |
184 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs534579777 CA279224210 |
186 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395398199 rs1311402945 |
191 | M>I | No |
ClinGen TOPMed |
|
|
CA7984305 rs776614434 |
191 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA395398206 rs1223191943 |
192 | L>F | No |
ClinGen gnomAD |
|
|
rs761949888 CA7984306 |
193 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750956235 CA395398255 |
196 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984308 rs750956235 |
196 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7984310 rs117987062 |
198 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751872594 CA7984311 |
200 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984312 rs754670706 |
202 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1047611832 CA279224246 |
204 | T>A | No |
ClinGen TOPMed |
|
|
CA279224247 rs932632967 |
204 | T>S | No |
ClinGen TOPMed |
|
|
rs1366745010 CA395398361 |
205 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780862689 CA7984313 |
206 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs201982360 CA7984329 |
207 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395398513 rs1425481148 |
209 | T>I | No |
ClinGen gnomAD |
|
|
rs767130173 CA7984332 |
210 | D>E | No |
ClinGen ExAC |
|
|
rs751956607 CA7984330 |
210 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759887031 CA7984331 |
210 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA395398586 rs1430335946 |
215 | M>L | No |
ClinGen gnomAD |
|
|
rs755684437 CA7984334 |
217 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395398673 rs1276961829 |
221 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279224661 rs28546429 |
229 | Q>H | No |
ClinGen Ensembl |
|
|
CA395398807 rs1275626613 |
230 | R>H | No |
ClinGen gnomAD |
|
|
rs1275626613 CA395398805 |
230 | R>L | No |
ClinGen gnomAD |
|
|
rs1222468159 CA395398820 |
232 | E>A | No |
ClinGen TOPMed |
|
|
CA7984337 CA7984338 rs140933362 |
232 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395398826 rs1300277512 |
233 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs570631568 CA7984340 |
233 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7984339 rs570631568 |
233 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395398830 rs1246088404 |
234 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200216843 CA279224675 |
234 | G>S | No |
ClinGen 1000Genomes |
|
|
rs895291984 CA279224677 |
235 | D>N | No |
ClinGen Ensembl |
|
|
CA395398852 rs1271633441 |
237 | N>K | No |
ClinGen gnomAD |
|
|
rs748431706 CA7984342 |
237 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7984343 rs769858391 |
238 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1049301799 CA279224681 |
239 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7984344 rs773389057 |
241 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984345 rs762989803 |
243 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395398914 rs1175476501 |
246 | D>G | No |
ClinGen TOPMed |
|
|
CA395398919 rs1167293126 |
247 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395398939 rs1364243037 |
248 | S>Y | No |
ClinGen TOPMed |
|
|
CA395398971 rs1449412856 |
252 | D>E | No |
ClinGen gnomAD |
|
|
CA7984369 rs375041014 |
254 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7984370 rs775964657 |
255 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA395398998 rs1318900610 |
256 | M>T | No |
ClinGen gnomAD |
|
|
rs150427063 CA7984371 |
258 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395399014 rs150427063 |
258 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763869383 CA7984372 |
260 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761493331 CA7984374 |
265 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1444022810 CA395399069 |
266 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs199783180 CA279226646 |
267 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1350056837 CA395399085 |
268 | T>N | No |
ClinGen TOPMed |
|
|
rs896824143 CA279226647 |
273 | S>T | No |
ClinGen Ensembl |
|
|
rs749900880 CA7984376 |
275 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395399151 rs1184512697 |
278 | T>A | No |
ClinGen gnomAD |
|
|
CA395399155 rs1364596735 |
278 | T>M | No |
ClinGen gnomAD |
|
|
rs1234747367 CA395399192 |
282 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395399233 rs1345574354 |
286 | S>* | No |
ClinGen gnomAD |
|
|
rs1207729732 CA395399226 |
286 | S>A | No |
ClinGen TOPMed |
|
|
CA395399279 COSM259582 COSM259583 rs759450724 |
290 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7984398 rs759450724 |
290 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279226877 rs755635449 |
290 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 292 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984399 rs150226050 |
293 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194199638 CA395399348 |
295 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA279226890 rs529609782 |
301 | R>G | No |
ClinGen 1000Genomes |
|
|
COSM1184231 CA395399415 COSM1184232 rs1369976845 |
301 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1451842519 CA395399468 |
305 | S>L | No |
ClinGen gnomAD |
|
|
CA395399476 rs1171700041 |
306 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7984402 rs779104256 |
306 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758425721 CA7984404 |
308 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7984405 rs375741616 |
308 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7984407 rs201137100 |
310 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395399735 rs1306902599 |
312 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7984411 rs772722090 |
312 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395399740 rs1267303909 |
313 | I>L | No |
ClinGen gnomAD |
|
|
CA279226916 rs141610901 |
315 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1466515495 CA395399779 |
318 | D>G | No |
ClinGen gnomAD |
|
|
CA395399775 rs1470691071 |
318 | D>N | No |
ClinGen TOPMed |
|
|
CA7984416 rs192948721 |
319 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1192203172 CA395399815 |
322 | T>I | No |
ClinGen TOPMed |
|
|
CA395399877 rs1163722203 |
326 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1432620101 CA395399894 |
328 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 329 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984422 rs758610480 |
331 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7984424 rs138781614 |
332 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7984423 rs780022194 |
332 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA395399935 rs1288365184 |
333 | Q>H | No |
ClinGen gnomAD |
|
|
rs1214939695 CA395399950 |
334 | G>V | No |
ClinGen TOPMed |
|
|
rs1326474145 CA395399967 |
336 | G>E | No |
ClinGen TOPMed |
|
|
CA395399960 rs1335520902 |
336 | G>R | No |
ClinGen gnomAD |
|
|
CA395399976 rs1001625427 |
337 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA279226940 rs1001625427 |
337 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA279226932 rs373223341 |
337 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA395400019 rs369236305 |
341 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984425 rs369236305 |
341 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984452 rs753381722 |
347 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395400225 COSM702731 COSM702732 rs1434041581 |
349 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA395400238 rs1247950681 |
351 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA279227328 rs957692594 |
354 | Q>P | No |
ClinGen Ensembl |
|
|
COSM159298 COSM159297 rs187434765 CA7984455 |
355 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA395400268 rs1339692887 |
356 | V>A | No |
ClinGen TOPMed |
|
|
rs774945756 CA7984457 |
357 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279227344 rs774945756 |
357 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236950307 CA395400271 |
357 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA395400287 rs1232765989 |
360 | P>S | No |
ClinGen gnomAD |
|
|
CA7984459 rs768619961 |
361 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766777603 CA279227352 |
361 | R>W | No |
ClinGen Ensembl |
|
|
rs1479459001 CA395400329 |
365 | R>Q | No |
ClinGen gnomAD |
|
|
CA7984463 rs147994015 |
368 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401323163 CA395400393 |
370 | R>Q | No |
ClinGen TOPMed |
|
|
COSM3690896 COSM3690898 CA7984465 rs150545281 COSM3690897 COSM3690895 |
370 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7984466 rs200982628 |
371 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7984469 rs754215571 |
372 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7984468 rs200000355 |
372 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757654931 CA7984470 |
373 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1709021 CA279227392 COSM1709020 rs754290857 |
373 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs745554653 CA7984472 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395400462 rs1596921152 |
377 | S>G | No |
ClinGen Ensembl |
|
|
rs368636815 CA7984473 |
377 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370532118 CA7984474 |
378 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866379197 CA279227412 |
380 | P>S | No |
ClinGen Ensembl |
|
|
CA7984476 rs768539165 |
381 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3932311 COSM3932310 CA7984477 rs776614927 COSM702729 COSM702730 |
382 | R>C | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1215212218 CA395400527 |
382 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395400548 rs1458389453 |
384 | P>L | No |
ClinGen Ensembl |
|
|
CA279227425 rs926434251 |
384 | P>S | No |
ClinGen Ensembl |
|
|
CA7984478 rs747972972 |
385 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769632048 CA7984479 |
386 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1467681661 CA395400570 |
386 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA395400585 rs1463138144 |
387 | L>R | No |
ClinGen gnomAD |
|
|
rs773101092 CA395400606 |
389 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs773101092 CA7984480 |
389 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA395400626 rs1596921720 |
390 | S>N | No |
ClinGen Ensembl |
|
|
CA395400653 rs1475702655 |
392 | P>A | No |
ClinGen gnomAD |
|
|
CA395400658 rs1167344270 |
392 | P>R | No |
ClinGen gnomAD |
|
|
rs1417482658 CA395400675 |
394 | P>S | No |
ClinGen gnomAD |
|
|
CA279227437 rs937949189 |
396 | S>A | No |
ClinGen Ensembl |
|
|
rs775781613 CA7984483 |
396 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760798122 CA7984484 |
399 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984485 rs764023490 |
399 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs201584994 CA279227447 |
401 | I>T | No |
ClinGen 1000Genomes |
|
|
rs910271458 CA279227451 |
402 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA279227457 rs867013990 |
403 | G>R | No |
ClinGen Ensembl |
|
|
CA395400808 rs1489059637 |
406 | S>P | No |
ClinGen gnomAD |
|
|
CA7984528 rs780776629 |
407 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7984529 rs752125755 |
407 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395400814 rs752125755 |
407 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395400820 rs1397354612 |
408 | M>I | No |
ClinGen gnomAD |
|
|
rs997061074 CA279227647 |
408 | M>T | No |
ClinGen Ensembl |
|
|
CA7984530 rs756158546 |
408 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435897134 CA395400828 |
409 | S>F | No |
ClinGen gnomAD |
|
|
rs1374349578 CA395400837 |
411 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs4344749 CA395400856 |
413 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7984534 rs778811567 |
414 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395400858 rs1269710768 |
414 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA395400865 COSM435037 COSM435036 rs1237978085 |
415 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7984536 rs768743112 |
419 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748175093 CA7984538 |
420 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs371700809 CA7984539 |
421 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763379472 CA7984541 |
424 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774529844 CA7984543 |
426 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395400927 rs774529844 |
426 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759281381 CA7984544 |
427 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767044281 CA7984545 |
428 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7984546 rs373923639 |
428 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395400945 rs1173525151 |
429 | P>S | No |
ClinGen gnomAD |
|
|
rs1170796781 CA395400953 |
430 | S>F | No |
ClinGen TOPMed |
|
|
rs1009258367 CA279227734 |
430 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA279227739 rs368508890 |
432 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755700917 CA7984547 |
433 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755700917 CA279227741 |
433 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371862735 CA7984549 |
434 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7984548 rs371862735 |
434 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395400975 rs1238244768 |
435 | V>I | No |
ClinGen TOPMed |
|
|
rs778821255 CA7984551 |
436 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA395400982 rs778821255 |
436 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs150743711 CA7984554 |
438 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7984553 rs755296971 |
438 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA279227766 rs146367102 |
439 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7984555 rs748339852 |
440 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA395401374 rs1213748088 |
442 | G>S | No |
ClinGen gnomAD |
|
|
rs768394909 CA7984583 |
443 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7984582 rs760454399 |
443 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395401388 rs1247059923 |
444 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1276286269 CA395401382 |
444 | M>L | No |
ClinGen TOPMed |
|
|
CA395401400 rs1340850948 |
446 | P>T | No |
ClinGen TOPMed |
|
|
rs776349538 CA7984584 |
447 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201088101 CA279229704 |
447 | P>T | No |
ClinGen 1000Genomes |
|
|
CA7984586 rs764750247 |
448 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768828627 CA7984587 |
448 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395401411 rs764750247 |
448 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199631380 CA279229711 |
450 | P>A | No |
ClinGen Ensembl |
|
|
rs762904424 CA7984588 |
452 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7984589 rs766106793 |
453 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751330472 CA7984590 |
453 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395401476 rs1376115043 |
454 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs967231093 CA279229717 |
454 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs756366583 CA7984591 |
455 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA395401489 rs1447455857 |
455 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7984592 rs777965315 |
457 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs139683032 CA7984593 |
458 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7984594 rs200467288 |
459 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395401550 rs1404739325 |
461 | S>A | No |
ClinGen gnomAD |
|
|
rs746384500 CA7984596 |
462 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7984597 rs772610770 |
466 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1462301814 CA395401627 |
467 | I>V | No |
ClinGen TOPMed |
|
|
CA7984601 rs150073438 |
468 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150073438 CA7984600 |
468 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761487089 CA7984602 |
468 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs145394539 CA7984604 |
469 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7984603 rs568296581 |
469 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984607 rs751420507 |
470 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs868296623 CA395401662 |
471 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868296623 CA279229739 |
471 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs148725729 CA7984608 |
472 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142279382 CA7984609 |
473 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413978209 CA395401688 |
473 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395401697 rs1567421962 |
474 | S>P | No |
ClinGen Ensembl |
|
|
rs999442705 CA279229746 |
478 | I>L | No |
ClinGen Ensembl |
|
|
rs1397916525 CA395401751 |
478 | I>M | No |
ClinGen TOPMed |
|
|
rs1596942945 CA395401761 |
479 | P>L | No |
ClinGen Ensembl |
|
|
CA395401760 rs1596942945 |
479 | P>R | No |
ClinGen Ensembl |
|
|
CA395401762 rs1443235713 |
480 | V>L | No |
ClinGen gnomAD |
|
|
CA279229749 rs930894018 |
481 | T>S | No |
ClinGen gnomAD |
|
|
CA395401778 rs1375102623 |
482 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199772949 CA7984613 |
486 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395401797 rs199772949 |
486 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1218057917 CA395401804 |
487 | P>T | No |
ClinGen gnomAD |
|
|
CA279229756 rs967112465 |
488 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA395401827 rs1198850493 |
491 | S>T | No |
ClinGen gnomAD |
|
|
rs1235764041 CA395401833 |
492 | I>L | No |
ClinGen TOPMed |
|
|
rs1049236398 CA279229760 |
493 | S>T | No |
ClinGen Ensembl |
|
|
CA395401851 rs141652504 |
495 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141652504 CA7984617 |
495 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA279229770 rs772156763 |
496 | S>F | No |
ClinGen Ensembl |
|
|
rs781653159 CA7984618 |
497 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747774074 CA7984619 |
498 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA395401874 rs1355427023 |
499 | I>V | No |
ClinGen TOPMed |
|
|
CA395401892 rs1421776425 |
502 | A>P | No |
ClinGen gnomAD |
|
|
rs866264696 CA279229778 COSM99190 COSM97857 |
503 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs772634261 CA7984621 |
503 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 504 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170207039 CA395401906 |
504 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1040065028 CA279229781 |
505 | D>G | No |
ClinGen TOPMed |
|
|
rs1196612428 CA395401932 |
507 | K>E | No |
ClinGen TOPMed |
|
|
rs1050200107 CA279229810 |
508 | E>K | No |
ClinGen Ensembl |
|
|
rs1346378685 CA395401957 |
510 | S>C | No |
ClinGen gnomAD |
|
|
rs987449959 CA279229817 |
513 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 514 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984635 rs147052305 |
514 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377260840 CA279229827 |
518 | L>V | No |
ClinGen Ensembl |
|
|
rs1224532741 CA395402008 |
519 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748511248 CA7984637 |
523 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984640 rs748833424 |
525 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554817856 CA7984639 |
525 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7984641 rs147835265 |
526 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1596945608 CA395402051 |
526 | I>V | No |
ClinGen Ensembl |
|
|
rs773802371 CA7984642 |
527 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395402063 rs1215911951 |
528 | G>R | No |
ClinGen gnomAD |
|
|
CA7984643 rs745855139 |
529 | K>E | No |
ClinGen ExAC |
|
|
rs543601825 CA7984644 |
530 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395402091 rs1596949292 |
531 | P>S | No |
ClinGen Ensembl |
|
|
TCGA novel CA395402114 rs1197746963 |
534 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1359720008 CA395402122 |
535 | N>K | No |
ClinGen TOPMed |
|
|
rs1041603787 CA279229937 |
539 | R>G | No |
ClinGen Ensembl |
|
|
rs767436806 COSM1518843 COSM1518842 CA395402154 |
539 | R>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767436806 CA7984675 |
539 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984676 rs753252251 |
540 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA279229947 rs545006715 |
547 | K>E | No |
ClinGen Ensembl |
|
|
CA395402268 rs1298716118 |
548 | F>S | No |
ClinGen TOPMed |
|
|
rs756972784 CA7984680 |
550 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA395402319 rs374234496 CA7984682 |
551 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368802096 CA279230010 |
555 | Q>E | No |
ClinGen ESP TOPMed |
|
|
CA7984704 rs371618980 |
555 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395402498 rs1401847061 |
556 | P>S | No |
ClinGen gnomAD |
|
|
CA395402512 rs1298893213 |
557 | S>G | No |
ClinGen gnomAD |
|
|
rs750998062 CA7984705 |
559 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984706 rs755006669 |
561 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA279230016 rs376258331 |
562 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA279230019 rs1042046263 |
563 | S>I | No |
ClinGen gnomAD |
|
|
rs1264135909 CA395402707 |
566 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395402698 rs1426155049 |
566 | P>S | No |
ClinGen gnomAD |
|
|
CA395402718 rs1487144703 |
567 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755975680 CA7984709 |
569 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA279230021 rs756421374 |
569 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395402749 rs755975680 |
569 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 570 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984711 rs150384100 |
570 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7984710 rs200505611 |
570 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772154566 CA7984712 |
571 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1366581985 CA395402803 |
573 | K>E | No |
ClinGen gnomAD |
|
|
CA279230032 rs374623746 |
574 | E>D | No |
ClinGen Ensembl |
|
|
CA395402825 rs1159286969 |
574 | E>G | No |
ClinGen gnomAD |
|
|
rs775707092 CA7984713 |
574 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs938570236 CA279230034 |
575 | E>Q | No |
ClinGen Ensembl |
|
|
rs1304795601 CA395402850 |
577 | K>E | No |
ClinGen gnomAD |
|
|
CA7984716 rs777129494 |
579 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA395402935 rs1567426112 |
584 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 590 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 593 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395403060 rs1213913473 |
594 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7984721 rs562015209 |
596 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 598 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279230050 rs890606081 |
599 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1023690519 CA279230053 |
599 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs751136628 CA7984722 |
600 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs143039266 CA7984724 |
602 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754458613 CA7984723 |
602 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7984726 rs756065665 |
603 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777759993 COSM1478741 CA7984727 COSM1478742 |
604 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395403179 rs1409027452 |
609 | K>E | No |
ClinGen TOPMed |
|
|
rs138507497 CA7984730 |
609 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395403185 rs1448063650 |
610 | P>S | No |
ClinGen gnomAD |
|
|
CA7984731 rs747189910 |
611 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395403206 rs1249558389 |
613 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1280152256 CA395403208 |
614 | P>A | No |
ClinGen gnomAD |
|
|
CA7984735 rs200961015 |
614 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395403224 rs1462588309 |
617 | G>S | No |
ClinGen TOPMed |
|
|
rs771266274 CA7984738 |
618 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1179093271 CA395403238 |
619 | E>A | No |
ClinGen gnomAD |
|
|
CA395403239 rs1179093271 |
619 | E>G | No |
ClinGen gnomAD |
|
|
CA395403246 rs1236338710 |
620 | G>E | No |
ClinGen TOPMed |
|
|
rs1437773579 CA395403243 |
620 | G>R | No |
ClinGen gnomAD |
|
|
rs773877042 CA7984739 |
621 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA279230073 CA395403268 rs11544942 |
623 | Q>H | No |
ClinGen gnomAD |
|
|
rs759186600 CA7984740 |
624 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 626 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984742 rs752233208 |
627 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767157523 CA7984741 |
627 | P>S | No |
ClinGen ExAC |
|
|
rs760761182 CA7984743 |
629 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA279230079 rs986299661 |
632 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395403323 rs986299661 |
632 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7984745 rs753753026 |
633 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs778731470 CA7984749 |
634 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984746 rs200955195 |
634 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395403340 rs1367666843 |
635 | P>L | No |
ClinGen gnomAD |
|
|
rs564157371 CA279230084 |
636 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7984750 rs564157371 |
636 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770460809 | 637 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395403349 rs1596955050 |
637 | V>G | No |
ClinGen Ensembl |
|
|
rs748225874 CA7984752 |
637 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748225874 CA395403345 |
637 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs146212001 CA7984753 |
638 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146212001 CA7984754 |
638 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7984755 rs749738467 |
639 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774729785 CA7984757 |
641 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1394972345 CA395403371 |
641 | K>N | No |
ClinGen gnomAD |
|
|
rs1407569468 CA395403387 |
644 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7984758 rs139719437 |
646 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1425974260 CA395403410 |
647 | E>K | No |
ClinGen gnomAD |
|
|
CA395403419 rs1596955394 |
648 | G>R | No |
ClinGen Ensembl |
|
|
rs1478281306 CA395403423 |
648 | G>V | No |
ClinGen gnomAD |
|
|
CA395403428 rs1384291894 |
649 | P>L | No |
ClinGen TOPMed |
|
|
rs1422360063 CA395403426 |
649 | P>S | No |
ClinGen TOPMed |
|
|
rs1163646428 CA395403434 |
650 | V>A | No |
ClinGen TOPMed |
|
|
rs1170359925 CA395403437 |
651 | A>P | No |
ClinGen gnomAD |
|
|
COSM557517 CA7984760 rs373472808 COSM557516 |
652 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395403466 rs1284585767 |
654 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1243637109 CA395403484 |
656 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761693050 CA7984781 |
662 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395403562 rs1281825181 |
667 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 668 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395403585 rs1443222098 CA395403584 |
670 | K>N | No |
ClinGen gnomAD |
|
|
rs764130541 CA7984788 |
675 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984808 rs374855035 |
676 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380764213 CA395404339 |
680 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 680 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM557515 COSM557514 rs571133202 CA279230231 |
683 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA395404392 rs1321300695 |
684 | S>F | No |
ClinGen TOPMed |
|
|
CA7984810 rs757362191 |
685 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1292898482 CA395404425 |
687 | P>L | No |
ClinGen gnomAD |
|
|
CA395404420 rs1404614746 |
687 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 688 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984812 rs750987200 |
688 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395404429 rs1567430010 |
688 | R>W | No |
ClinGen Ensembl |
|
|
rs1470531820 CA395404437 |
689 | T>P | No |
ClinGen TOPMed |
|
|
CA395404456 rs1245487863 |
690 | H>L | No |
ClinGen gnomAD |
|
|
rs780602193 CA7984814 |
692 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457628550 CA395404477 |
692 | T>S | No |
ClinGen gnomAD |
|
|
rs999284888 CA279230240 |
693 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780915704 CA7984817 |
695 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs747692323 CA7984818 |
696 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395404548 rs1596564372 |
698 | L>P | No |
ClinGen Ensembl |
|
|
CA395404569 rs1190007992 |
700 | A>G | No |
ClinGen TOPMed |
|
|
CA279230245 rs371757757 |
700 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749275119 CA7984821 |
703 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs774200116 CA7984823 |
707 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759362826 CA7984825 |
707 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7984826 rs776942843 |
708 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279131377 CA395404683 |
709 | Q>R | No |
ClinGen gnomAD |
|
|
CA279230255 rs943640969 |
710 | Y>F | No |
ClinGen TOPMed |
|
|
CA395404703 rs1259790258 |
711 | I>L | No |
ClinGen gnomAD |
|
| rs1307206763 | 712 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200586518 CA7984828 |
713 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 714 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984829 rs750497575 |
714 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7984830 rs370793695 |
716 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766975906 CA7984831 |
718 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7984832 rs769608228 |
719 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019808198 CA279230265 |
720 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 720 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199932847 CA279230266 |
722 | A>P | No |
ClinGen 1000Genomes |
|
|
rs1567430913 CA395404874 |
724 | Q>R | No |
ClinGen Ensembl |
|
|
rs745864476 CA395404947 |
726 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984864 rs745864476 |
726 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984866 rs766795333 CA395404975 |
728 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395404969 rs1307120087 |
728 | M>L | No |
ClinGen gnomAD |
|
|
CA7984865 rs758235321 |
728 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs201749442 CA7984867 |
729 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA395404984 rs1359040540 |
730 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 732 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241136901 CA395405001 |
732 | P>L | No |
ClinGen gnomAD |
|
|
CA7984869 rs773569552 |
732 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395405019 rs1259444634 |
735 | N>S | No |
ClinGen TOPMed |
|
|
CA7984870 rs749484779 |
736 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1407309303 CA395405044 |
737 | V>A | No |
ClinGen gnomAD |
|
|
CA395405057 rs1230149263 |
738 | P>L | No |
ClinGen gnomAD |
|
|
CA7984872 rs774275587 |
739 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279230319 rs774275587 |
739 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395405084 rs1290601519 |
740 | Q>H | No |
ClinGen TOPMed |
|
|
rs767907429 CA7984874 |
742 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 743 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335165354 CA395405117 |
743 | K>R | No |
ClinGen gnomAD |
|
|
rs1403031369 CA395405122 |
744 | Y>N | No |
ClinGen gnomAD |
|
|
CA395405128 rs1448123035 |
744 | Y>S | No |
ClinGen gnomAD |
|
|
rs764401006 CA7984877 |
745 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7984876 COSM184680 rs560637561 COSM184679 |
745 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7984878 rs370264000 |
746 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756878999 CA7984879 |
748 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772066751 CA7984910 |
749 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777035253 CA7984914 |
752 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769145194 CA7984913 |
752 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7984915 rs762176848 |
753 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1371400197 CA395405280 |
755 | R>C | No |
ClinGen TOPMed |
|
|
CA7984917 rs546961698 |
755 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1359651710 CA395405293 |
756 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1044510578 CA279230370 |
756 | S>T | No |
ClinGen Ensembl |
|
|
CA395405291 rs1359651710 |
756 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1358810041 CA395405360 |
761 | P>L | No |
ClinGen gnomAD |
|
|
rs1202365544 CA395405371 |
762 | A>V | No |
ClinGen TOPMed |
|
|
COSM969518 CA7984921 rs751084865 COSM969519 |
765 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 765 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984923 rs767550243 |
766 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs1192875780 CA395405430 |
769 | Q>E | No |
ClinGen gnomAD |
|
|
CA7984925 rs755866196 |
770 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755866196 CA395405442 |
770 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7499664 CA7984927 |
771 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200766578 CA279230381 |
771 | A>V | No |
ClinGen Ensembl |
|
|
rs780062969 CA279230387 |
772 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7984929 rs780062969 |
772 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747076514 CA7984930 |
772 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 774 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395405474 rs1596569464 |
774 | A>T | No |
ClinGen Ensembl |
|
|
rs1343197130 CA395405494 |
775 | G>A | No |
ClinGen gnomAD |
|
|
CA279230393 rs371667973 |
775 | G>C | No |
ClinGen ESP gnomAD |
|
|
rs1315570233 CA395405504 |
776 | P>L | No |
ClinGen gnomAD |
|
|
CA395405534 rs1243812204 |
779 | V>A | No |
ClinGen gnomAD |
|
|
rs1311601198 CA395405548 |
781 | A>T | No |
ClinGen gnomAD |
|
|
rs773607636 CA7984935 |
782 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1282491831 CA395405578 |
783 | P>R | No |
ClinGen gnomAD |
|
|
CA7984938 rs368005005 |
787 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372029973 CA279230403 |
789 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs760637870 CA7984942 |
792 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 792 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7984945 rs758605237 |
798 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA395405814 rs1279751991 |
801 | M>I | No |
ClinGen gnomAD |
|
|
rs1450321349 CA395405844 |
803 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 803 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279230417 rs866259814 |
804 | P>S | No |
ClinGen Ensembl |
|
|
rs751709299 CA7984947 |
805 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 807 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781196919 CA7984949 |
809 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395406024 rs1302708721 |
812 | P>L | No |
ClinGen gnomAD |
|
|
rs1302708721 CA395406028 |
812 | P>Q | No |
ClinGen gnomAD |
|
|
rs774920447 CA7984979 |
813 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA395406059 rs944081857 |
815 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs944081857 CA279230580 |
815 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7984981 rs767980985 |
816 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 816 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369126374 CA7984983 |
817 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7984982 rs776657733 |
817 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395406742 rs1222591482 |
819 | Q>H | No |
ClinGen gnomAD |
|
|
CA7984984 rs765062281 |
822 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279230587 rs112833797 |
823 | R>C | No |
ClinGen gnomAD |
|
|
CA395406818 rs1206569743 |
823 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 824 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373039080 CA7984986 |
826 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs897010557 CA279230595 |
827 | S>L | No |
ClinGen TOPMed |
|
|
CA7984988 rs752808309 |
827 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395406914 rs1163027910 |
829 | S>I | No |
ClinGen gnomAD |
|
|
rs370559547 CA7984990 |
834 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1289722656 CA395407024 |
835 | V>M | No |
ClinGen gnomAD |
|
|
CA395407089 rs1380954234 |
839 | T>P | No |
ClinGen gnomAD |
|
|
CA7984993 rs140222209 |
840 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395407116 rs1140134 CA279230609 |
841 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs947780316 CA279230605 |
841 | Q>K | No |
ClinGen TOPMed |
|
|
COSM1709024 rs779760189 COSM1709025 CA7984996 |
843 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs891075294 CA279230614 |
845 | A>T | No |
ClinGen Ensembl |
|
|
CA7984997 rs746599125 |
846 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs768231674 CA7984998 |
847 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395407229 rs1203001297 |
848 | P>L | No |
ClinGen gnomAD |
|
|
CA279230619 rs202060357 |
848 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1244840504 CA395407243 |
849 | T>I | No |
ClinGen gnomAD |
|
|
rs769721863 CA7985001 |
851 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA395407285 rs1309283539 |
852 | A>T | No |
ClinGen TOPMed |
|
|
CA7985003 rs762754438 |
854 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776934100 CA7985026 |
856 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276348895 CA395407403 |
858 | H>P | No |
ClinGen gnomAD |
|
|
CA395407398 rs1222679625 |
858 | H>Y | No |
ClinGen gnomAD |
|
|
CA395407456 rs1319614978 |
862 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 863 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761988132 CA7985027 |
865 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 868 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413934908 CA395407550 |
869 | H>N | No |
ClinGen TOPMed |
|
|
rs145381210 CA7985030 |
869 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7985029 rs201427214 |
869 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7985031 rs766804567 |
870 | A>P | No |
ClinGen ExAC |
|
|
CA7985032 rs751863737 |
871 | H>P | No |
ClinGen ExAC |
|
|
CA7985034 rs767093063 |
873 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777217286 CA7985037 |
875 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757113481 CA7985039 |
876 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778825156 CA7985040 |
877 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973690013 CA279230667 |
878 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA395407644 rs1404057348 |
878 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 879 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7985043 rs777024288 |
880 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs573609543 CA395407715 |
884 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs573609543 CA279230673 |
884 | P>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1596577428 CA395407728 |
885 | Q>H | No |
ClinGen Ensembl |
|
|
CA7985045 rs770039334 |
885 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781099967 CA279230677 |
887 | Q>* | No |
ClinGen Ensembl |
|
|
COSM3402243 rs763582122 COSM3402244 CA7985047 COSM3402242 COSM3402241 |
889 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA395407795 rs965736612 |
891 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA279230684 rs965736612 |
891 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395407831 rs1322778280 |
894 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395407851 rs1596577637 |
895 | Q>R | No |
ClinGen Ensembl |
|
|
CA395407940 rs1326163019 |
897 | Q>* | No |
ClinGen gnomAD |
|
|
CA395407951 rs1204858944 |
898 | A>T | No |
ClinGen gnomAD |
|
|
rs137943525 CA7985075 |
898 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764754667 CA7985077 |
902 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395407997 rs764754667 |
902 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 902 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395408037 rs1321494877 |
905 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7985079 rs758321488 |
906 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7985080 rs780058096 |
906 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7985081 rs780058096 |
906 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395408122 rs1394318912 |
912 | N>H | No |
ClinGen gnomAD |
|
|
COSM3817708 COSM3817706 CA395408137 COSM3817709 rs1331012655 COSM3817707 |
913 | L>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs368717939 CA7985083 |
916 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7985084 rs749489964 |
917 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779029553 CA7985086 |
918 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA395408192 rs779029553 |
918 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746403050 CA7985087 |
920 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7985088 rs772564326 |
921 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs904683751 CA279230752 |
921 | G>S | No |
ClinGen TOPMed |
|
|
CA279230754 rs749199841 |
922 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA395408232 rs749199841 |
922 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395408238 rs1437962513 |
923 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1437962513 CA395408237 |
923 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1249172786 CA395408244 |
924 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 926 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395408261 rs1199914286 |
927 | P>L | No |
ClinGen gnomAD |
|
|
CA395408266 rs761504539 |
928 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7985093 rs761504539 |
928 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs963260894 CA279230771 |
931 | S>F | No |
ClinGen Ensembl |
|
|
rs764690023 CA7985094 |
931 | S>P | No |
ClinGen ExAC |
|
|
rs749941921 CA7985095 |
934 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs763039872 CA7985096 |
937 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395408333 rs1233204243 |
939 | F>L | No |
ClinGen gnomAD |
|
|
rs780995508 CA7985100 |
944 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7985103 rs757470640 |
950 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271349982 CA395408524 |
952 | Q>H | No |
ClinGen gnomAD |
|
|
CA7985104 rs778927258 |
954 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866137830 CA395408568 |
956 | G>A | No |
ClinGen gnomAD |
|
|
rs772084546 CA7985107 |
956 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279230797 rs866137830 |
956 | G>D | No |
ClinGen gnomAD |
|
|
rs772084546 CA7985106 |
956 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777018643 CA7985110 |
958 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7985112 rs769470704 |
959 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs772679258 CA7985113 |
959 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395408625 rs1211696552 |
960 | M>I | No |
ClinGen gnomAD |
|
|
rs762560031 CA395408611 |
960 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7985114 rs762560031 |
960 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395408626 rs1455928251 |
961 | A>T | No |
ClinGen TOPMed |
|
|
rs1387203737 CA395408636 |
962 | H>Y | No |
ClinGen gnomAD |
|
|
CA395408679 rs1388378427 |
965 | Q>L | No |
ClinGen TOPMed |
|
|
CA7985137 rs775235044 |
966 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395408753 rs1311504316 |
967 | H>R | No |
ClinGen gnomAD |
|
|
rs1410829369 CA395408803 |
973 | T>P | No |
ClinGen gnomAD |
|
|
CA7985140 rs541094771 |
974 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7985142 rs766513152 |
976 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758583366 CA7985141 |
976 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395408878 rs1596583368 |
979 | H>P | No |
ClinGen Ensembl |
|
|
rs1596583450 CA395408896 |
980 | P>L | No |
ClinGen Ensembl |
|
|
CA279230883 COSM3932312 COSM3932313 rs946051078 COSM253674 COSM253675 |
980 | P>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs781723825 CA7985145 |
983 | P>T | No |
ClinGen ExAC |
|
|
rs753106755 CA7985146 |
984 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7985147 rs756524979 |
985 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA279230895 rs907295236 |
986 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7985150 rs770706778 |
988 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 989 | M>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466066008 CA395409041 |
993 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395409051 rs1301715465 |
994 | P>T | No |
ClinGen gnomAD |
|
|
CA395409073 rs1376397051 |
995 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395409086 rs1392760461 |
996 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 997 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1000 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395409145 rs1400524006 |
1000 | P>H | No |
ClinGen TOPMed |
|
|
CA395409146 rs1400524006 |
1000 | P>R | No |
ClinGen TOPMed |
|
|
CA7985154 rs771419065 |
1001 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs1288664341 | 1002 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771612620 | 1002 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408632862 CA395409169 |
1002 | Q>L | No |
ClinGen TOPMed |
|
| rs771612620 | 1002 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1002 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7985155 rs775517284 |
1003 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA7985157 rs765799433 |
1004 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776401763 CA7985158 |
1004 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1010 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395409238 rs1276694719 |
1010 | V>L | No |
ClinGen gnomAD |
|
|
rs753297415 CA7985164 |
1011 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7985162 rs759690129 |
1011 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7985163 rs759690129 |
1011 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756547898 CA7985165 |
1012 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395409261 rs1475639496 |
1014 | S>* | No |
ClinGen TOPMed |
|
|
rs754246598 CA7985167 |
1015 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866692986 CA279230922 |
1016 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 1018 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395409280 rs1180893425 |
1018 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1308197754 CA395409865 |
1020 | P>L | No |
ClinGen gnomAD |
|
|
CA395409864 rs1308197754 |
1020 | P>R | No |
ClinGen gnomAD |
|
|
rs374124254 COSM1184230 CA395409857 COSM1184229 |
1020 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs374124254 CA7985168 |
1020 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs951607718 CA279232139 |
1021 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs951607718 CA395409875 |
1021 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7985169 rs778715582 |
1022 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395409916 rs1171766258 |
1024 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779397572 CA7985172 |
1025 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234331008 CA395409955 |
1027 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1031 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7985175 rs776492688 |
1033 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7985176 rs776492688 |
1033 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774580137 CA7985178 |
1035 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767677257 CA7985180 |
1036 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7985182 rs761306397 |
1040 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7985184 rs754332697 |
1042 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304644086 CA395410168 |
1042 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7985185 rs746560568 |
1043 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147536062 CA7985186 |
1045 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1045 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364019012 CA395410217 |
1047 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA279232201 rs367975292 |
1047 | R>H | No |
ClinGen ESP |
|
|
CA395410238 rs1229102358 |
1049 | F>L | No |
ClinGen gnomAD |
|
|
rs757979450 CA7985188 |
1051 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200347966 CA7985187 |
1051 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1290865282 CA395410261 |
1053 | G>E | No |
ClinGen gnomAD |
|
|
CA395410259 rs1290865282 |
1053 | G>V | No |
ClinGen gnomAD |
|
|
rs779668135 CA7985189 |
1054 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1364447423 CA395410262 |
1054 | G>R | No |
ClinGen TOPMed |
|
|
CA395410268 rs1219851576 |
1055 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1244294480 CA395410275 |
1056 | W>G | No |
ClinGen gnomAD |
|
|
rs1465720492 CA395410287 |
1057 | H>R | No |
ClinGen gnomAD |
|
|
rs1438996174 CA395410297 |
1059 | R>G | No |
ClinGen gnomAD |
|
|
CA7985190 rs746515176 |
1059 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs754417128 CA7985191 |
1059 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA395410319 rs1447208280 |
1062 | G>E | No |
ClinGen gnomAD |
|
|
CA279232211 rs1140136 |
1063 | L>M | No |
ClinGen Ensembl |
|
|
CA7985192 rs781137283 |
1064 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214874620 CA395410340 |
1066 | G>R | No |
ClinGen TOPMed |
|
|
rs1414089908 CA395410360 |
1068 | D>E | No |
ClinGen gnomAD |
|
|
CA395410353 rs1266694959 |
1068 | D>N | No |
ClinGen TOPMed |
|
|
CA7985194 rs769628304 |
1070 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748027494 CA7985193 |
1070 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7985196 rs746169044 |
1071 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs772171228 CA7985197 |
1072 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1231456802 CA395410385 |
1074 | G>R | No |
ClinGen gnomAD |
|
|
CA395410389 rs1351004669 |
1074 | G>V | No |
ClinGen TOPMed |
|
|
COSM969528 rs1363040251 CA395410398 |
1075 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1596586096 CA395410401 |
1076 | E>G | No |
ClinGen Ensembl |
No associated diseases with Q8WWM7
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA metabolic process | The chemical reactions and pathways involving mRNA, messenger RNA, which is responsible for carrying the coded genetic 'message', transcribed from DNA, to sites of protein assembly at the ribosomes. |
| stress granule assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a stress granule. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLKPQPLQQP | SQPQQPPPTQ | QAVARRPPGG | TSPPNGGLPG | PLATSAAPPG | PPAAASPCLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVAAAGSGLR | RGAEGILAPQ | PPPPQQHQER | PGAAAIGSAR | GQSTGKGPPQ | SPVFEGVYNN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SRMLHFLTAV | VGSTCDVKVK | NGTTYEGIFK | TLSSKFELAV | DAVHRKASEP | AGGPRREDIV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DTMVFKPSDV | MLVHFRNVDF | NYATKDKFTD | SAIAMNSKVN | GEHKEKVLQR | WEGGDSNSDD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YDLESDMSNG | WDPNEMFKFN | EENYGVKTTY | DSSLSSYTVP | LEKDNSEEFR | QRELRAAQLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| REIESSPQYR | LRIAMENDDG | RTEEEKHSAV | QRQGSGRESP | SLASREGKYI | PLPQRVREGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RGGVRCSSSR | GGRPGLSSLP | PRGPHHLDNS | SPGPGSEARG | INGGPSRMSP | KAQRPLRGAK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TLSSPSNRPS | GETSVPPPPA | VGRMYPPRSP | KSAAPAPISA | SCPEPPIGSA | VPTSSASIPV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TSSVSDPGVG | SISPASPKIS | LAPTDVKELS | TKEPGRTLEP | QELARIAGKV | PGLQNEQKRF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QLEELRKFGA | QFKLQPSSSP | ENSLDPFPPR | ILKEEPKGKE | KEVDGLLTSE | PMGSPVSSKT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESVSDKEDKP | PLAPSGGTEG | PEQPPPPCPS | QTGSPPVGLI | KGEDKDEGPV | AEQVKKSTLN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PNAKEFNPTK | PLLSVNKSTS | TPTSPGPRTH | STPSIPVLTA | GQSGLYSPQY | ISYIPQIHMG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PAVQAPQMYP | YPVSNSVPGQ | QGKYRGAKGS | LPPQRSDQHQ | PASAPPMMQA | AAAAGPPLVA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ATPYSSYIPY | NPQQFPGQPA | MMQPMAHYPS | QPVFAPMLQS | NPRMLTSGSH | PQAIVSSSTP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QYPSAEQPTP | QALYATVHQS | YPHHATQLHA | HQPQPATTPT | GSQPQSQHAA | PSPVQHQAGQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| APHLGSGQPQ | QNLYHPGALT | GTPPSLPPGP | SAQSPQSSFP | QPAAVYAIHH | QQLPHGFTNM |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| AHVTQAHVQT | GITAAPPPHP | GAPHPPQVML | LHPPQSHGGP | PQGAVPQSGV | PALSASTPSP |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| YPYIGHPQGE | QPGQAPGFPG | GADDRIREFS | LAGGIWHGRA | EGLQVGQDAR | VLGGE |