Q9ULM0
PR
Gene name |
PLEKHH1 (KIAA1200) |
Protein name |
Pleckstrin homology domain-containing family H member 1 |
Names |
PH domain-containing family H member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57475 |
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 Q9ULM0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9ULM0-F1 | Predicted | AlphaFoldDB |
1048 variants for Q9ULM0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1369772427 CA390260813 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs374740302 CA7236232 |
5 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA263326142 rs995934941 |
6 | V>L | No |
ClinGen Ensembl |
|
|
rs777990501 CA7236233 |
7 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA390260852 rs1276381530 |
8 | A>V | No |
ClinGen gnomAD |
|
|
rs759623392 CA7236237 |
9 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236236 rs774580530 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA263326143 rs954438429 |
10 | A>T | No |
ClinGen Ensembl |
|
|
rs1385414878 CA390260873 |
12 | V>A | No |
ClinGen TOPMed |
|
|
rs200833268 CA263326144 |
12 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7236239 rs772068473 |
13 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1190247602 CA390260885 |
14 | W>* | No |
ClinGen gnomAD |
|
|
CA7236241 rs760592257 |
14 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs763998194 CA7236243 |
17 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390260909 rs763998194 |
17 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA390260921 rs761627260 |
19 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761627260 CA390260920 |
19 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761627260 CA7236245 |
19 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753544050 CA7236244 |
19 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236246 rs764820974 |
21 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1437781363 CA390260933 |
22 | E>* | No |
ClinGen gnomAD |
|
|
CA390260948 rs1298824161 |
24 | Q>E | No |
ClinGen gnomAD |
|
|
rs1382442208 CA390260954 |
25 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390260966 rs750039536 |
26 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310063549 CA390260983 |
29 | R>C | No |
ClinGen gnomAD |
|
|
rs1323058590 CA390260984 |
29 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7236250 rs561590054 |
30 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1248416873 CA390260992 |
31 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7236252 rs778244812 |
31 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390261003 rs1182045778 |
32 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1268461848 CA390261004 |
33 | S>C | No |
ClinGen TOPMed |
|
|
CA390261007 rs1416230548 |
33 | S>N | No |
ClinGen gnomAD |
|
|
CA390261017 rs1594742552 |
34 | K>M | No |
ClinGen Ensembl |
|
|
rs1472437499 CA390261012 |
34 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1424509886 CA390261035 |
37 | E>K | No |
ClinGen gnomAD |
|
|
rs749649717 CA263326145 |
40 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236253 rs749649717 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996749224 CA263326146 |
41 | D>H | No |
ClinGen TOPMed |
|
|
CA390261057 rs996749224 |
41 | D>Y | No |
ClinGen TOPMed |
|
|
rs766038628 CA7236266 |
43 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1284126973 CA390130428 |
49 | R>G | No |
ClinGen TOPMed |
|
|
CA262761303 rs533080177 |
50 | L>V | No |
ClinGen gnomAD |
|
|
rs754300896 CA390130478 |
53 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236269 rs200379117 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754300896 CA7236270 |
53 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390130613 rs965005570 |
60 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA262761340 rs965005570 |
60 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390130619 rs1272739355 |
60 | A>V | No |
ClinGen gnomAD |
|
|
CA390130655 rs1369779516 |
62 | T>I | No |
ClinGen gnomAD |
|
|
CA7236304 rs749121012 |
64 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749121012 CA390131508 |
64 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7236305 rs149253165 |
65 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1229427115 CA390131545 |
67 | M>T | No |
ClinGen gnomAD |
|
|
rs1314613159 CA390131557 |
68 | E>K | No |
ClinGen gnomAD |
|
|
CA7236306 rs773938112 |
70 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390131596 rs1291281187 |
71 | V>A | No |
ClinGen gnomAD |
|
|
rs569406322 CA7236307 |
71 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1271835658 CA390131627 |
74 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
VAR_037094 rs7150973 CA7236309 |
75 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765755436 CA7236311 |
76 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7236312 rs750870259 |
77 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390131760 rs1413822624 |
86 | H>R | No |
ClinGen gnomAD |
|
|
CA7236315 rs751788042 |
87 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7236314 rs766725917 |
87 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236317 rs369160231 |
88 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369160231 CA262762489 |
88 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236318 rs752855705 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450402635 CA390131843 |
97 | K>N | No |
ClinGen gnomAD |
|
|
CA7236319 rs756217783 |
98 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262762512 rs756217783 |
98 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227109311 CA390131856 |
99 | K>N | No |
ClinGen gnomAD |
|
|
rs372709888 CA7236321 |
100 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770903027 CA7236322 |
105 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7236323 rs778745408 |
106 | L>P | No |
ClinGen ExAC |
|
|
CA390131941 rs1255105882 |
106 | L>V | No |
ClinGen gnomAD |
|
|
rs1374328546 CA390131961 |
107 | E>D | No |
ClinGen TOPMed |
|
|
rs1440358721 CA390131950 |
107 | E>Q | No |
ClinGen gnomAD |
|
|
rs1566735340 CA390131974 |
108 | A>V | No |
ClinGen Ensembl |
|
|
CA390131994 rs1189111214 |
110 | L>V | No |
ClinGen gnomAD |
|
|
CA7236328 rs768087686 |
113 | Q>H | No |
ClinGen ExAC |
|
|
CA7236326 rs774955003 |
113 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7236327 rs3825723 VAR_037095 |
113 | Q>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1269379459 CA390132068 |
115 | Q>E | No |
ClinGen Ensembl |
|
|
rs538296670 CA7236352 |
121 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1303752288 CA390132115 |
121 | A>T | No |
ClinGen gnomAD |
|
|
CA390132132 rs775908569 |
124 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236353 rs775908569 |
124 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760953304 CA7236354 |
125 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1483066117 CA390132144 |
126 | E>K | No |
ClinGen gnomAD |
|
|
rs764307159 CA7236355 |
128 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236356 rs753999591 |
128 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390132168 rs1434733177 |
129 | A>G | No |
ClinGen gnomAD |
|
|
CA390132179 rs1199277981 |
131 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447923436 CA390132198 |
133 | E>V | No |
ClinGen gnomAD |
|
|
rs1170646658 CA390132207 |
134 | W>* | No |
ClinGen gnomAD |
|
|
rs1472157477 CA390132202 |
134 | W>R | No |
ClinGen Ensembl |
|
|
CA390132214 rs1480512698 |
135 | V>A | No |
ClinGen TOPMed |
|
|
CA390132211 rs1390928052 |
135 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 136 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236359 rs373142612 |
140 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1210335190 CA390132275 |
143 | E>Q | No |
ClinGen gnomAD |
|
|
rs1261042913 CA390132283 |
144 | M>V | No |
ClinGen gnomAD |
|
|
rs866128890 CA262765813 |
145 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7236371 rs772532865 |
146 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA7236372 rs775963594 |
148 | H>Y | No |
ClinGen ExAC |
|
|
rs1258364904 CA390132366 |
151 | S>R | No |
ClinGen gnomAD |
|
|
rs761078447 CA7236373 |
155 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7236374 rs764431955 |
155 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390132447 rs764431955 |
155 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776934193 CA390132461 |
157 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236375 rs776934193 |
157 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358908769 CA390132504 |
160 | V>L | No |
ClinGen gnomAD |
|
|
CA7236378 rs750432818 |
162 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7236379 rs750432818 |
162 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA262765876 rs1032203000 |
163 | L>F | No |
ClinGen Ensembl |
|
|
rs766204068 CA7236380 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7236382 rs201438923 |
166 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236407 rs756767488 |
170 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7236408 rs780710225 |
175 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236410 rs560070070 |
176 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368366400 CA7236409 |
176 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262766132 rs764193995 |
178 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390133917 rs1434153928 |
181 | P>H | No |
ClinGen gnomAD |
|
|
CA390133920 rs1434153928 |
181 | P>L | No |
ClinGen gnomAD |
|
|
CA390133913 rs1179528092 |
181 | P>T | No |
ClinGen Ensembl |
|
|
CA262766151 rs200696869 |
182 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236412 rs200696869 |
182 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236413 rs200696869 |
182 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769942430 CA7236414 |
183 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs747500686 | 183 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773436049 CA7236415 |
184 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215214828 CA390133946 |
184 | G>V | No |
ClinGen gnomAD |
|
|
rs944217099 CA262766184 |
185 | A>D | No |
ClinGen Ensembl |
|
|
rs545474300 CA7236416 |
185 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1317988647 CA390133965 |
187 | E>K | No |
ClinGen TOPMed |
|
|
CA390133981 rs1259370402 |
188 | Q>* | No |
ClinGen TOPMed |
|
|
CA7236417 rs770933989 |
189 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7236418 COSM3419971 rs564069574 |
195 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA390134055 rs564069574 |
195 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs865956302 CA262766191 |
195 | P>T | No |
ClinGen Ensembl |
|
|
CA390134069 rs1436845882 |
197 | I>M | No |
ClinGen gnomAD |
|
|
rs752462777 CA7236421 |
199 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA390134082 rs1245782075 |
199 | P>L | No |
ClinGen gnomAD |
|
|
CA390134087 rs1388273608 |
200 | M>T | No |
ClinGen TOPMed |
|
|
CA7236422 rs760466312 |
201 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262766214 rs375403754 |
202 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 202 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236423 rs763665423 |
204 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1470150675 CA390134136 |
206 | S>F | No |
ClinGen Ensembl |
|
|
rs1594765543 CA390134145 |
207 | Q>P | No |
ClinGen Ensembl |
|
|
CA390134192 rs1395021975 |
212 | K>E | No |
ClinGen gnomAD |
|
|
CA262766252 rs968338330 |
212 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778552108 CA7236426 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7236427 rs752160089 |
216 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs755510213 CA7236428 |
217 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134246 rs1566739763 |
218 | P>S | No |
ClinGen Ensembl |
|
|
CA390134269 rs748485684 |
220 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236430 rs748485684 |
220 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781696462 CA7236429 |
220 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134264 rs781696462 |
220 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756445213 CA7236431 |
221 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134275 rs756445213 |
221 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134273 rs756445213 |
221 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134322 rs1230584550 |
225 | S>C | No |
ClinGen gnomAD |
|
|
rs777865209 CA7236432 |
227 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270363610 CA390134371 |
232 | A>T | No |
ClinGen gnomAD |
|
|
CA390134377 rs1448405430 |
233 | A>T | No |
ClinGen gnomAD |
|
|
rs200350780 CA7236434 |
234 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7236435 rs111383349 |
235 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375037121 CA7236436 |
240 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566739869 CA390134470 |
242 | S>R | No |
ClinGen Ensembl |
|
|
rs772015477 CA7236437 |
243 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760389510 CA7236439 |
244 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134574 rs1333733422 |
250 | V>A | No |
ClinGen gnomAD |
|
|
rs45616031 CA7236441 |
257 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236442 rs202043227 |
258 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7236443 rs764889690 |
260 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757940392 CA390134733 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7236444 rs369573320 |
262 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7236446 rs767913267 |
263 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390134750 rs1262695658 |
264 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1390859026 CA390134761 |
265 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594765753 CA390134776 |
266 | H>P | No |
ClinGen Ensembl |
|
|
CA7236447 rs753187151 |
266 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374262053 CA7236448 |
267 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262766377 rs1045452549 |
267 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778191789 CA7236449 |
268 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1594765777 CA390134827 |
269 | C>F | No |
ClinGen Ensembl |
|
|
rs749548541 CA390134832 |
270 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236450 rs749548541 |
270 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236452 rs757497606 |
272 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757497606 CA7236451 |
272 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236453 rs745954361 |
273 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7236454 rs772134967 |
274 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1470385726 CA390134987 |
279 | S>L | No |
ClinGen gnomAD |
|
|
CA7236455 rs775349945 |
280 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390134999 rs1400303943 |
280 | A>V | No |
ClinGen gnomAD |
|
|
CA7236456 rs746962578 |
281 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA390135018 rs1369958807 |
282 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313597370 CA390135013 |
282 | W>R | No |
ClinGen gnomAD |
|
|
rs768377349 CA7236457 |
285 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336793361 CA390135066 |
285 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs377474422 CA390135073 |
286 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390135093 rs1436708477 |
289 | A>T | No |
ClinGen TOPMed |
|
|
CA7236461 rs753253946 |
292 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236462 rs371181737 |
295 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390135140 CA390135141 rs1203013559 |
296 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1438229926 CA390135162 |
299 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs963151171 CA262766460 |
304 | G>R | No |
ClinGen Ensembl |
|
|
CA390135199 rs1375683288 |
305 | G>C | No |
ClinGen gnomAD |
|
|
rs1455752275 CA390135200 |
305 | G>D | No |
ClinGen gnomAD |
|
|
CA390135197 rs1375683288 |
305 | G>S | No |
ClinGen gnomAD |
|
|
rs1389696190 CA390135208 |
306 | P>L | No |
ClinGen gnomAD |
|
|
rs1389696190 CA390135207 |
306 | P>R | No |
ClinGen gnomAD |
|
|
rs1174438461 CA390135205 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA390135212 rs1356167815 |
307 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7236466 rs764410665 |
309 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754236932 CA7236467 |
310 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA262766464 rs973054995 |
311 | T>N | No |
ClinGen gnomAD |
|
|
rs1238498190 CA390135234 |
311 | T>P | No |
ClinGen TOPMed |
|
|
rs757553698 CA7236468 |
313 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200665235 CA7236469 |
313 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750633277 CA7236470 |
314 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA262766475 rs747846425 |
314 | K>N | No |
ClinGen Ensembl |
|
|
CA7236473 rs780151592 |
316 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236472 rs780151592 |
316 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758476597 CA7236471 |
316 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781234386 CA7236475 |
319 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236474 rs768660972 |
319 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594766003 CA390135278 |
320 | T>P | No |
ClinGen Ensembl |
|
|
CA7236477 rs769653726 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769653726 CA390135287 |
321 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390135285 rs1209101393 |
321 | P>S | No |
ClinGen gnomAD |
|
|
CA390135291 rs2236235 |
322 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236480 rs2236235 VAR_037096 |
322 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7236479 rs762659091 |
322 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236481 rs773885595 |
323 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7236482 rs551492399 |
323 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390135299 rs1458528933 |
324 | S>G | No |
ClinGen Ensembl |
|
|
CA390135301 rs1457853342 |
324 | S>N | No |
ClinGen gnomAD |
|
|
CA390135304 rs1161963160 |
324 | S>R | No |
ClinGen gnomAD |
|
|
CA7236485 rs374027673 |
327 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390135327 rs1326225744 |
328 | A>T | No |
ClinGen gnomAD |
|
|
rs572370589 CA390135347 |
330 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201122170 CA262766507 |
331 | H>Q | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA390135352 rs1297108365 |
331 | H>R | No |
ClinGen gnomAD |
|
|
CA390135357 rs1244054702 |
332 | H>Y | No |
ClinGen gnomAD |
|
|
rs1271195787 CA390135366 |
333 | S>I | No |
ClinGen gnomAD |
|
|
rs1271195787 CA390135367 |
333 | S>T | No |
ClinGen gnomAD |
|
|
CA390135382 rs1336726082 |
335 | P>L | No |
ClinGen gnomAD |
|
|
rs1018345147 CA262766509 |
335 | P>S | No |
ClinGen TOPMed |
|
|
rs758625156 CA7236488 |
336 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1594766146 CA390135392 |
337 | V>L | No |
ClinGen Ensembl |
|
|
CA390135405 rs1188444405 |
339 | H>P | No |
ClinGen gnomAD |
|
|
rs751691349 CA7236490 |
339 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7236491 rs754946236 |
343 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200005227 COSM145786 CA7236492 |
344 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs555885454 CA7236493 |
344 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7236495 rs567890070 |
345 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748939343 CA7236496 |
346 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1291417941 CA390135473 |
349 | E>D | No |
ClinGen gnomAD |
|
|
rs1394915011 CA390135468 |
349 | E>K | No |
ClinGen gnomAD |
|
|
CA262766559 rs746862506 |
350 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236498 rs746862506 |
350 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390135530 rs1287503301 |
356 | L>I | No |
ClinGen gnomAD |
|
|
CA390135548 rs1338905058 |
357 | H>Y | No |
ClinGen TOPMed |
|
|
rs983934869 CA262766578 |
358 | P>L | No |
ClinGen TOPMed |
|
|
rs866092940 CA262766579 |
361 | L>F | No |
ClinGen gnomAD |
|
|
rs866092940 CA390135633 |
361 | L>I | No |
ClinGen gnomAD |
|
|
rs777192475 CA7236501 |
366 | S>P | No |
ClinGen ExAC |
|
|
CA7236502 rs368751472 |
367 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390135766 rs1475822161 |
368 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765639220 CA7236503 |
369 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1417155488 CA390135782 |
369 | R>S | No |
ClinGen TOPMed |
|
|
CA7236505 rs553746041 |
371 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766627001 CA7236506 |
371 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7236504 rs553746041 |
371 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1194321934 CA390135799 |
372 | E>K | No |
ClinGen TOPMed |
|
|
rs755141584 CA390135843 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7236508 rs755141584 |
374 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1310581911 CA390135882 |
376 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1415382913 CA390135991 |
380 | E>D | No |
ClinGen gnomAD |
|
|
rs1307328465 CA390136001 |
381 | E>G | No |
ClinGen gnomAD |
|
|
CA7236510 rs752718114 |
383 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390136100 rs1594766332 |
385 | A>T | No |
ClinGen Ensembl |
|
|
rs1307381803 CA390136123 |
386 | G>R | No |
ClinGen gnomAD |
|
|
rs756095055 CA7236511 |
388 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA262766688 rs963120059 |
389 | E>Q | No |
ClinGen Ensembl |
|
|
rs927950600 CA262766716 |
390 | E>K | No |
ClinGen TOPMed |
|
|
rs1334274311 CA390136236 |
391 | R>I | No |
ClinGen TOPMed |
|
|
CA390136279 rs1205158850 |
393 | S>N | No |
ClinGen gnomAD |
|
|
rs756947970 CA7236514 |
393 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA390136299 rs1481855263 |
395 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA262766744 rs958100290 |
396 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 396 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390136326 rs958100290 |
396 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1453429194 CA390136336 |
397 | L>F | No |
ClinGen gnomAD |
|
|
CA7236516 rs745505924 |
399 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396427531 CA390136363 |
400 | E>Q | No |
ClinGen gnomAD |
|
|
rs771612552 CA7236517 |
402 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566740859 CA390136413 |
404 | V>L | No |
ClinGen Ensembl |
|
|
CA390136435 rs1444245908 |
405 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1439058979 CA390136458 |
407 | G>D | No |
ClinGen gnomAD |
|
|
rs914170090 CA262766785 |
407 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390136475 rs1170732044 |
408 | N>S | No |
ClinGen TOPMed |
|
|
rs746474070 CA7236520 |
411 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236521 rs770316875 |
412 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773525211 CA7236522 |
413 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766638458 CA7236524 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390136541 rs766638458 |
414 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390136553 rs1379649459 |
415 | L>P | No |
ClinGen TOPMed |
|
|
rs912794963 CA262766850 |
416 | H>Y | No |
ClinGen Ensembl |
|
|
rs770831709 CA262766851 |
417 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA7236527 rs770831709 |
417 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767752339 CA7236528 |
419 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1594766514 CA390136617 |
420 | S>F | No |
ClinGen Ensembl |
|
|
rs1191989265 CA390136624 |
421 | W>C | No |
ClinGen TOPMed |
|
|
rs774554553 CA7236544 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236543 rs771364299 |
424 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390138185 rs1166873731 |
426 | Y>C | No |
ClinGen gnomAD |
|
|
rs1354160793 CA390138201 |
428 | V>M | No |
ClinGen TOPMed |
|
|
rs1394865086 CA390138212 |
429 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA390138213 rs1394865086 |
429 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1394865086 CA390138211 |
429 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7236546 rs3825725 VAR_037097 |
430 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7236547 rs567827304 |
431 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1354150430 CA390138245 |
432 | G>V | No |
ClinGen gnomAD |
|
|
CA262771677 rs201267832 |
433 | M>I | No |
ClinGen Ensembl |
|
|
CA262771692 rs947858859 |
434 | R>Q | No |
ClinGen TOPMed |
|
|
rs759354131 CA7236549 COSM3401424 |
434 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA390138273 rs1385088220 |
435 | L>F | No |
ClinGen TOPMed |
|
|
CA7236553 rs761635766 |
438 | M>I | No |
ClinGen ExAC |
|
|
CA7236552 VAR_037098 rs17104428 |
438 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA262771723 rs775433152 |
443 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7236554 rs373456830 |
444 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376867294 CA7236555 |
445 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 446 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368926841 CA7236556 |
447 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372636928 CA7236558 |
448 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs964886768 CA262772241 |
450 | S>C | No |
ClinGen TOPMed |
|
|
CA390138479 rs1331300549 |
450 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766156545 CA7236574 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1447143580 CA390138509 |
453 | A>S | No |
ClinGen gnomAD |
|
|
CA390138519 rs1302236096 |
454 | L>F | No |
ClinGen gnomAD |
|
|
CA7236576 rs754561229 |
456 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA390138554 rs996543051 |
458 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA262772270 rs996543051 |
458 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs780846311 CA7236577 |
460 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029392417 CA390138595 |
462 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1029392417 CA262772310 |
462 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA262772317 rs955144038 |
463 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs755581767 CA7236579 |
467 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750719773 CA262772326 |
470 | V>M | No |
ClinGen Ensembl |
|
|
CA7236580 rs779350639 |
471 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390138650 rs1461225723 |
471 | P>L | No |
ClinGen gnomAD |
|
|
rs746376967 CA7236581 |
472 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236582 rs772607954 |
473 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs780547017 CA7236583 |
475 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747329536 CA390138675 |
476 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1299229098 CA390138689 |
478 | G>E | No |
ClinGen gnomAD |
|
|
CA7236585 rs770585859 |
478 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236604 rs781326992 |
482 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1165100588 CA390139421 |
483 | I>V | No |
ClinGen gnomAD |
|
|
CA7236609 rs770883097 |
486 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs749314084 CA390139471 |
486 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262773805 rs764522434 |
486 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7236608 rs749314084 |
486 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236607 rs764522434 |
486 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs774202545 CA7236610 |
488 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759259188 CA7236611 |
489 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390139538 rs775049167 |
490 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236612 rs767344112 |
490 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7236614 rs760355771 |
491 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286901160 CA390139582 |
494 | G>R | No |
ClinGen gnomAD |
|
|
CA7236616 rs752039018 |
495 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs933357888 CA262773861 |
496 | D>G | No |
ClinGen gnomAD |
|
|
rs201561620 CA7236618 |
497 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs201561620 CA390139640 |
497 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1248778078 CA390139658 |
498 | D>N | No |
ClinGen gnomAD |
|
|
CA390139713 rs1160826752 |
500 | S>G | No |
ClinGen gnomAD |
|
|
CA7236621 rs781589679 |
502 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1053427915 CA262773908 |
503 | A>V | No |
ClinGen TOPMed |
|
|
CA7236624 rs777928662 |
504 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236625 rs777928662 |
504 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390139833 rs1273098605 |
506 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA262773924 rs201583089 |
506 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs542557833 CA7236626 |
508 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7236628 rs201954357 |
509 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771815619 CA7236629 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 512 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390140046 rs73272331 |
518 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236632 rs768427758 |
519 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs760350685 CA7236631 |
519 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7236633 rs776365731 |
521 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236636 rs764836738 |
522 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761469104 CA7236634 |
522 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA390140119 rs1238388516 |
523 | P>L | No |
ClinGen gnomAD |
|
|
CA7236639 rs573848643 |
524 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs760065706 CA7236638 |
524 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390140150 rs756400907 |
526 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs749923100 CA7236642 |
527 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754043066 CA7236643 |
528 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA390140175 rs1463310119 |
529 | G>S | No |
ClinGen gnomAD |
|
|
CA390140264 rs770331514 |
530 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770331514 CA7236673 |
530 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262774562 rs994929844 |
531 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390140307 rs1312770363 |
532 | M>I | No |
ClinGen gnomAD |
|
|
rs1401211988 CA390140292 |
532 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1417033396 CA390140346 |
534 | S>L | No |
ClinGen gnomAD |
|
|
rs1222793398 CA390140421 |
538 | E>G | No |
ClinGen gnomAD |
|
|
rs1356617799 CA390140402 |
538 | E>K | No |
ClinGen gnomAD |
|
|
rs764538043 CA7236676 |
539 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236677 rs777015123 |
539 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390140447 rs1217299636 |
540 | D>N | No |
ClinGen gnomAD |
|
|
rs762103151 CA7236678 |
541 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7236681 rs372893729 |
542 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369122900 CA7236680 |
542 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 544 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236685 rs377260849 |
545 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236688 rs537981393 |
547 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7236689 rs748886358 |
549 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416589556 CA390140610 |
549 | S>P | No |
ClinGen gnomAD |
|
|
rs1441114548 CA390140621 |
550 | L>M | No |
ClinGen gnomAD |
|
|
CA262774713 rs1031848294 |
551 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7236690 rs375335890 |
551 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390140691 rs1347165561 |
553 | D>E | No |
ClinGen gnomAD |
|
|
rs1309810144 CA390140703 |
554 | Y>C | No |
ClinGen TOPMed |
|
|
rs377710137 CA7236691 |
555 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377710137 CA262774731 |
555 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954776029 CA262774717 |
555 | S>P | No |
ClinGen Ensembl |
|
|
CA262774736 rs989306586 |
556 | E>D | No |
ClinGen Ensembl |
|
|
CA7236692 rs745344750 |
556 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1372161793 CA390140748 |
557 | P>T | No |
ClinGen TOPMed |
|
|
rs1202056642 CA390140781 |
558 | E>D | No |
ClinGen gnomAD |
|
|
rs1345652256 CA390140765 |
558 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7236693 rs769159489 |
559 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390140824 rs1405067088 |
561 | L>P | No |
ClinGen Ensembl |
|
|
rs777068194 CA7236694 |
563 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777068194 CA7236695 |
563 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236696 rs765515437 COSM1370701 |
563 | R>H | Variant assessed as Somatic; 5.005e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA390140851 rs1594778741 |
564 | T>P | No |
ClinGen Ensembl |
|
|
CA390140871 rs1240283115 |
565 | S>L | No |
ClinGen gnomAD |
|
|
CA390140875 rs1440507848 |
566 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA390140928 rs1427764624 |
570 | D>G | No |
ClinGen TOPMed |
|
|
rs763065134 CA7236698 |
570 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390140932 rs200559560 |
571 | G>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA262774773 rs200559560 |
571 | G>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7236701 rs751718827 CA7236700 |
571 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235374022 CA390140959 |
576 | G>E | No |
ClinGen gnomAD |
|
|
rs574733370 CA7236704 CA390140957 |
576 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757022592 CA7236727 |
577 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1323739354 CA390140992 |
580 | E>K | No |
ClinGen gnomAD |
|
|
rs750071995 CA7236729 |
581 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779517515 CA7236731 |
582 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs199993972 CA7236735 CA390141049 |
588 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236734 rs778275347 |
588 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187809178 CA390141056 |
589 | G>E | No |
ClinGen gnomAD |
|
|
CA390141062 rs1594780306 |
590 | S>I | No |
ClinGen Ensembl |
|
|
rs1432457067 CA390141064 |
590 | S>R | No |
ClinGen TOPMed |
|
|
CA7236736 rs554219380 |
592 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188512358 CA7236738 |
594 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1300884980 CA390141110 |
597 | R>K | No |
ClinGen gnomAD |
|
|
CA7236740 rs775466498 |
598 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390141117 rs1163969484 |
598 | R>H | No |
ClinGen TOPMed |
|
|
rs1396864604 CA390141120 |
599 | W>R | No |
ClinGen gnomAD |
|
|
rs1594780377 CA390141133 |
600 | F>S | No |
ClinGen Ensembl |
|
|
rs1374880376 CA390141163 |
605 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs894587731 CA262775566 |
606 | Q>* | No |
ClinGen TOPMed |
|
|
CA390141190 rs1242416446 |
608 | M>I | No |
ClinGen gnomAD |
|
|
CA262775576 rs1014255009 |
608 | M>R | No |
ClinGen Ensembl |
|
|
CA7236741 rs760745090 |
610 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs201101468 CA7236743 |
612 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200621278 CA7236742 |
612 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201101468 CA7236744 |
612 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7236745 rs764986513 COSM1607868 |
613 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA390141288 rs1566752784 |
616 | V>I | No |
ClinGen Ensembl |
|
|
CA7236770 rs143727242 |
618 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7236769 rs530418837 |
618 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 620 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390141335 COSM3983653 rs1467418849 |
620 | P>T | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA262776012 rs979127014 |
622 | G>V | No |
ClinGen Ensembl |
|
|
CA390141395 rs1339645795 |
625 | D>Y | No |
ClinGen TOPMed |
|
|
CA390141453 rs1368953507 |
628 | S>F | No |
ClinGen gnomAD |
|
|
CA7236774 rs754442932 |
628 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757858671 CA7236775 |
629 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236776 rs369545508 |
629 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390141463 rs757858671 |
629 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201861455 CA7236777 |
632 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320008701 CA390141515 |
632 | I>V | No |
ClinGen TOPMed |
|
|
rs758826705 CA7236778 COSM1290313 |
634 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7236779 COSM1287237 rs780212110 |
634 | R>Q | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161964236 CA390141548 |
635 | G>R | No |
ClinGen TOPMed |
|
|
CA390141567 rs1320675934 |
636 | E>K | No |
ClinGen gnomAD |
|
|
CA7236780 rs377660207 |
637 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262776094 rs950266963 |
639 | Q>* | No |
ClinGen TOPMed |
|
|
rs768667777 CA7236781 |
640 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA262776109 rs371147512 |
642 | Q>* | No |
ClinGen ESP |
|
|
rs749191698 CA7236804 |
644 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770676925 CA7236805 |
647 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs774215591 CA7236806 |
648 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA390141866 rs1594781605 |
648 | K>I | No |
ClinGen Ensembl |
|
|
CA7236807 rs377544492 |
651 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1053561175 CA262776501 |
651 | Y>H | No |
ClinGen gnomAD |
|
|
CA390141913 rs377544492 |
651 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA390141928 rs1379372885 |
653 | T>A | No |
ClinGen gnomAD |
|
|
CA7236808 rs574404632 |
653 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390141938 rs1227101721 |
654 | A>T | No |
ClinGen TOPMed |
|
|
rs1355794857 CA390141943 |
654 | A>V | No |
ClinGen gnomAD |
|
|
CA7236811 rs763670963 |
655 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236812 rs751015963 |
657 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390141968 rs751015963 |
657 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236813 rs763539264 |
658 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7236815 rs751959260 |
660 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA262776584 rs971632649 |
663 | W>L | No |
ClinGen gnomAD |
|
|
CA390142055 rs1382227882 |
665 | R>* | No |
ClinGen gnomAD |
|
|
COSM957180 CA7236816 rs755238452 |
665 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1413478331 CA390142065 |
666 | V>L | No |
ClinGen TOPMed |
|
|
rs1003085823 CA262776601 |
668 | Q>L | No |
ClinGen Ensembl |
|
|
rs904400656 CA262776603 |
669 | S>N | No |
ClinGen TOPMed |
|
|
rs777803563 CA7236820 |
671 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749274763 CA7236821 |
672 | K>Q | No |
ClinGen ExAC |
|
|
CA7236822 rs770929022 |
673 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs61534804 CA7236824 CA390142158 |
677 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs961542581 CA262776687 |
678 | P>S | No |
ClinGen Ensembl |
|
|
rs771760426 CA7236825 |
680 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771760426 CA390142183 |
680 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236827 rs760382614 |
683 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760382614 CA390142212 |
683 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236826 rs775323773 |
683 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7236828 rs768378485 |
684 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs371340554 CA7236829 |
684 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390142216 rs768378485 |
684 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 684 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426207313 CA390142230 |
685 | G>D | No |
ClinGen Ensembl |
|
|
CA390142254 rs1479267856 |
687 | K>N | No |
ClinGen gnomAD |
|
|
rs1173550083 CA390142265 |
688 | P>L | No |
ClinGen gnomAD |
|
|
rs760010101 CA7236834 |
690 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760010101 CA7236833 |
690 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549451161 CA262776722 |
692 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA262776746 CA390142318 rs148425364 |
693 | W>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs142532421 CA262776762 |
695 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs920052425 CA390142333 |
695 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs920052425 CA262776766 |
695 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7236854 rs764311132 |
699 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA390142929 rs1566754850 |
701 | H>R | No |
ClinGen Ensembl |
|
|
CA7236855 rs754004834 |
701 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236856 rs757399212 |
704 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7236858 rs750467146 |
705 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390142981 rs1163598189 |
706 | W>* | No |
ClinGen gnomAD |
|
|
rs758445565 CA7236859 |
707 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs182273167 CA7236861 |
708 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370381025 CA390143014 |
709 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA390143013 rs370381025 |
709 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA262777674 rs370381025 |
709 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA390143031 rs374024390 |
711 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7236862 rs374024390 |
711 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390143047 rs1200314319 |
712 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390143060 rs1398517804 |
713 | I>T | No |
ClinGen TOPMed |
|
|
COSM1477716 rs1308568845 CA390143076 |
714 | F>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376096019 CA390143072 |
714 | F>S | No |
ClinGen ESP |
|
|
rs376096019 CA262777682 |
714 | F>Y | No |
ClinGen ESP |
|
|
CA7236866 rs780962794 |
715 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs780962794 CA7236865 |
715 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA390143112 rs1261349441 |
717 | Y>H | No |
ClinGen gnomAD |
|
|
CA390143117 COSM1477718 rs1219399765 |
717 | Y>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7236869 rs748756908 |
718 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769390988 CA7236867 |
718 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772572154 CA7236870 |
719 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA262777722 rs1041155134 |
720 | H>R | No |
ClinGen Ensembl |
|
|
CA390143168 rs1253650722 |
720 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 721 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390143185 rs1183692862 COSM3956167 |
721 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768872305 TCGA novel CA7236873 |
722 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs777885500 CA262777749 |
722 | D>V | No |
ClinGen Ensembl |
|
|
rs751594076 CA7236899 |
724 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs532622152 CA7236900 |
724 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1296816604 CA390143322 |
725 | P>S | No |
ClinGen TOPMed |
|
|
CA390143353 rs1461856688 |
728 | C>S | No |
ClinGen TOPMed |
|
|
CA7236901 rs767444580 |
729 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1399785912 CA390143379 |
730 | P>R | No |
ClinGen gnomAD |
|
|
CA390143375 rs1346631804 |
730 | P>S | No |
ClinGen gnomAD |
|
|
CA262778138 rs372844208 |
731 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7236902 rs752438562 |
731 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146068447 CA7236904 |
732 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755880711 CA7236903 |
732 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390143400 rs1273142626 |
733 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7236905 rs753482523 |
734 | A>V | Variant assessed as Somatic; 0.0001394 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7236907 rs186582399 |
735 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_037099 CA7236909 rs11158685 |
735 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs186582399 CA7236908 |
735 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7236911 rs781684505 |
739 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748522449 CA7236912 |
740 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3711516 rs868417029 CA262778205 |
741 | R>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA7236913 rs548781748 |
741 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7236915 rs749496823 |
742 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7236916 rs771225646 |
743 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1419574400 CA390143531 |
747 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7236917 rs774599926 |
748 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296785176 CA390143540 |
748 | D>Y | No |
ClinGen gnomAD |
|
|
CA7236918 rs759593807 |
749 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262778242 rs920308494 |
750 | E>K | No |
ClinGen Ensembl |
|
|
CA7236919 rs767369042 |
751 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390143575 rs1380399946 |
753 | G>A | No |
ClinGen TOPMed |
|
|
rs1380399946 CA390143574 |
753 | G>E | No |
ClinGen TOPMed |
|
|
rs1316471610 CA390143585 |
755 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7236922 rs763856469 |
756 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144520197 CA7236921 |
756 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455470549 CA390143596 |
757 | L>W | No |
ClinGen TOPMed |
|
| TCGA novel | 758 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390143619 rs1207050276 |
761 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390143626 rs1181413144 |
762 | C>S | No |
ClinGen TOPMed |
|
|
rs753583020 CA7236923 |
763 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236925 rs764803700 |
768 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757916726 CA7236928 |
778 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1439661977 CA390143739 |
779 | G>R | No |
ClinGen gnomAD |
|
|
rs942975861 CA262778277 |
780 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 780 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262507547 CA390143754 |
781 | K>N | No |
ClinGen TOPMed |
|
|
CA262778291 rs976986007 |
781 | K>Q | No |
ClinGen gnomAD |
|
|
CA390143759 rs1208798803 |
782 | H>P | No |
ClinGen TOPMed |
|
|
rs757889664 CA7236946 |
786 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757889664 CA390143803 |
786 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7236948 rs185661133 |
788 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1594784586 CA390143832 |
790 | H>P | No |
ClinGen Ensembl |
|
|
rs756716356 CA7236949 |
795 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs561218698 CA7236950 |
796 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390143869 rs1364667144 |
797 | G>S | No |
ClinGen TOPMed |
|
|
CA390143903 rs1566756545 |
801 | K>N | No |
ClinGen Ensembl |
|
|
rs1275184187 CA390143909 |
802 | V>A | No |
ClinGen gnomAD |
|
|
rs1275184187 CA390143910 |
802 | V>G | No |
ClinGen gnomAD |
|
|
CA7236952 rs757682843 |
803 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 805 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329298203 CA390143932 |
806 | Y>C | No |
ClinGen TOPMed |
|
|
CA7236955 rs772138315 |
809 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs780216639 CA7236956 |
810 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390143958 rs1394229197 |
810 | I>V | No |
ClinGen TOPMed |
|
|
CA390144437 rs1430822419 |
814 | M>T | No |
ClinGen TOPMed |
|
|
CA262781569 rs965679396 |
816 | G>A | No |
ClinGen Ensembl |
|
|
CA7236957 rs746993857 |
816 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs768595126 CA7236958 |
818 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7236959 rs373936892 |
819 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1301888082 CA390144552 |
821 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762402048 CA7236977 |
822 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369145807 CA7236979 |
823 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1244195525 CA390144710 |
823 | P>S | No |
ClinGen gnomAD |
|
|
CA390144723 rs1247311040 |
824 | L>F | No |
ClinGen gnomAD |
|
|
CA390144768 rs1219952001 |
826 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1285836146 CA390144781 |
827 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7236981 rs770626449 |
828 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 829 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239842993 CA390144806 |
829 | M>V | No |
ClinGen TOPMed |
|
|
CA390144843 rs1207202497 |
831 | C>Y | No |
ClinGen gnomAD |
|
|
CA390144858 rs1566757729 |
832 | Y>C | No |
ClinGen Ensembl |
|
|
rs1263412580 CA390144880 |
833 | S>G | No |
ClinGen gnomAD |
|
|
rs200751390 CA7236982 |
834 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs45522335 CA7236983 |
835 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374185002 CA7236985 |
836 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390144962 rs1384055677 |
837 | L>P | No |
ClinGen TOPMed |
|
|
CA390144981 rs1379550615 |
838 | Y>C | No |
ClinGen gnomAD |
|
|
rs750813400 CA7236988 |
839 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390145018 rs1159431632 |
840 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1165333997 CA390145029 |
841 | L>R | No |
ClinGen TOPMed |
|
|
CA390145051 rs1395646758 |
842 | T>S | No |
ClinGen gnomAD |
|
|
CA390145068 rs1334839683 |
843 | T>I | No |
ClinGen gnomAD |
|
|
CA262782025 rs71421379 |
846 | S>F | No |
ClinGen Ensembl |
|
|
CA7236989 rs532340182 |
851 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390145217 rs1261660264 |
853 | A>V | No |
ClinGen gnomAD |
|
|
rs1202640523 CA390145220 |
854 | L>F | No |
ClinGen gnomAD |
|
|
rs1202640523 CA390145222 |
854 | L>V | No |
ClinGen gnomAD |
|
|
CA7237003 rs775145792 |
859 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237004 rs775145792 |
859 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765831969 CA7237005 |
860 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs773590857 CA7237006 |
860 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763418851 CA7237007 |
862 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs143792116 CA7237009 |
865 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201614604 CA7237008 |
865 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7237011 rs201045091 |
866 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7237012 rs752782913 |
867 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390145548 rs1243964429 |
868 | V>A | No |
ClinGen gnomAD |
|
|
CA390145544 rs1464030922 |
868 | V>L | No |
ClinGen gnomAD |
|
|
rs1299260181 CA390145594 |
871 | A>T | No |
ClinGen gnomAD |
|
|
rs1390567101 CA390145606 |
871 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7237015 rs371586394 |
872 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216326335 CA390145637 |
873 | V>A | No |
ClinGen TOPMed |
|
|
CA262782283 rs574853072 |
874 | D>N | No |
ClinGen Ensembl |
|
|
rs1223709774 CA390145661 |
875 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 878 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374945212 CA262782284 |
881 | Q>H | No |
ClinGen ESP |
|
|
rs1294312262 CA390145750 |
882 | T>A | No |
ClinGen gnomAD |
|
|
rs200129259 CA7237018 |
883 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7237019 rs200129259 |
883 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775270734 CA7237020 |
883 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 885 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390145773 rs1365958837 |
885 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 886 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262782310 rs890492813 |
891 | P>S | No |
ClinGen TOPMed |
|
|
rs773820271 CA7237023 |
892 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390145891 rs1403172178 |
896 | E>K | No |
ClinGen TOPMed |
|
|
rs1026439514 CA262782345 |
897 | I>N | No |
ClinGen gnomAD |
|
|
rs766678978 CA262782348 |
899 | C>G | No |
ClinGen Ensembl |
|
|
rs950864427 CA262782364 |
902 | M>T | No |
ClinGen Ensembl |
|
|
rs372136838 CA7237027 |
908 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262782373 rs376699596 |
908 | R>H | No |
ClinGen ESP gnomAD |
|
|
CA390146057 rs1305378903 |
910 | P>T | No |
ClinGen gnomAD |
|
|
rs200449034 CA7237029 |
911 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405235606 CA390146075 |
912 | K>* | No |
ClinGen gnomAD |
|
|
CA390146103 rs1178886650 |
914 | S>C | No |
ClinGen TOPMed |
|
|
CA7237031 rs372444628 |
916 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7237030 rs372444628 |
916 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764056434 CA7237032 |
917 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1360021085 CA390146724 |
918 | C>R | No |
ClinGen gnomAD |
|
|
CA390146776 rs1281862386 |
921 | L>H | No |
ClinGen gnomAD |
|
|
rs964749080 CA262782530 COSM957184 |
923 | A>T | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1383308309 CA390146804 |
924 | L>P | No |
ClinGen gnomAD |
|
|
CA390146819 rs1260661476 |
926 | A>V | No |
ClinGen TOPMed |
|
|
CA7237047 COSM1740096 rs202023234 |
927 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390146855 rs1470028409 |
932 | Q>R | No |
ClinGen gnomAD |
|
|
CA390146943 rs1175896508 |
944 | Q>* | No |
ClinGen gnomAD |
|
|
CA390146945 rs1205053672 |
944 | Q>R | No |
ClinGen gnomAD |
|
|
CA390146951 rs1410618323 |
945 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7237048 rs760829903 |
945 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA390146976 rs1404816603 |
949 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390146984 rs1338075451 |
950 | R>K | No |
ClinGen gnomAD |
|
|
rs1049538529 CA262782838 |
951 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390147074 rs1338841522 |
955 | Q>H | No |
ClinGen gnomAD |
|
|
CA390147090 rs1468265829 |
956 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1194082276 CA390147092 |
957 | A>T | No |
ClinGen gnomAD |
|
|
rs762026637 CA7237071 |
962 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390147173 rs1566760117 |
964 | V>A | No |
ClinGen Ensembl |
|
|
rs1267177809 CA390147166 |
964 | V>M | No |
ClinGen gnomAD |
|
|
CA390147180 rs1426000083 |
965 | E>K | No |
ClinGen TOPMed |
|
|
rs367714433 CA390147190 |
966 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7237074 rs773379741 |
966 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367714433 CA7237073 |
966 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390147201 rs1474794945 |
967 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 968 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7237077 rs751321343 |
969 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237075 rs763019682 |
969 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA390147222 rs1594788318 |
970 | T>A | No |
ClinGen Ensembl |
|
|
CA262782865 rs949026037 |
970 | T>N | No |
ClinGen TOPMed |
|
|
rs201225859 CA7237079 |
971 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755668835 CA7237081 |
973 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748755316 CA7237083 |
979 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237084 rs758910064 |
979 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245882236 CA390147336 |
980 | M>I | No |
ClinGen gnomAD |
|
|
CA390147334 rs1343553822 |
980 | M>T | No |
ClinGen gnomAD |
|
|
CA7237085 rs780598844 |
980 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290118376 CA390147347 |
982 | V>M | No |
ClinGen gnomAD |
|
|
rs1362053579 CA390147353 |
983 | V>M | No |
ClinGen gnomAD |
|
|
CA7237086 rs747400166 |
984 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1446015350 CA390147368 |
985 | I>T | No |
ClinGen gnomAD |
|
|
CA262782901 rs530753733 |
987 | L>P | No |
ClinGen Ensembl |
|
|
rs1450079504 CA390147382 |
988 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs537977736 CA7237090 |
988 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450079504 CA390147380 |
988 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375627497 CA390147391 CA7237091 |
989 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390147410 rs1163574591 |
992 | H>R | No |
ClinGen gnomAD |
|
|
rs1380718026 CA390147473 |
998 | S>T | No |
ClinGen gnomAD |
|
|
rs1320449917 CA390147496 |
999 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201272393 CA7237094 |
1001 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759287677 CA262782944 |
1002 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA262782959 rs568603362 |
1002 | H>R | No |
ClinGen 1000Genomes |
|
|
CA7237095 rs759287677 |
1002 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1176488029 CA390147576 |
1004 | T>A | No |
ClinGen TOPMed |
|
|
CA390147600 rs1362163757 |
1005 | N>S | No |
ClinGen gnomAD |
|
|
CA7237097 rs752385006 |
1006 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262782971 rs982894795 |
1009 | H>R | No |
ClinGen gnomAD |
|
|
CA7237117 rs753458025 |
1010 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA390147810 rs1393524160 |
1012 | G>D | No |
ClinGen gnomAD |
|
|
rs1478976177 CA390147803 |
1012 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1015 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376769093 CA262783183 |
1015 | G>S | No |
ClinGen ESP gnomAD |
|
|
CA262783188 rs1014117278 |
1016 | S>F | No |
ClinGen Ensembl |
|
|
CA7237120 rs371136142 |
1016 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755516653 CA390147906 |
1017 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755516653 CA7237121 |
1017 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7237122 rs775519422 |
1018 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045567391 CA262783192 |
1018 | T>P | No |
ClinGen gnomAD |
|
|
CA7237124 rs756538580 |
1019 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1019 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390147958 rs1211862528 |
1020 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1021 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7237127 rs771007935 |
1025 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7237126 rs749496824 |
1025 | R>W | Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs928859743 CA262783218 |
1029 | E>A | No |
ClinGen TOPMed |
|
|
CA7237129 rs199730574 |
1030 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304110177 CA390148163 |
1032 | M>I | No |
ClinGen Ensembl |
|
|
CA262783227 rs767590396 |
1032 | M>L | No |
ClinGen Ensembl |
|
|
CA7237131 rs199772470 |
1034 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309092831 CA390148217 |
1036 | S>T | No |
ClinGen gnomAD |
|
|
rs760502653 CA7237132 |
1037 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237134 rs776362398 |
1039 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761559845 CA7237136 |
1044 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7237137 rs370260624 |
1044 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987704024 CA390148352 |
1045 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1045 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7237139 rs762359584 |
1046 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768200891 CA7237140 |
1047 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750570192 CA262783271 |
1048 | S>A | No |
ClinGen Ensembl |
|
|
rs367933390 CA7237142 |
1048 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367933390 CA7237141 |
1048 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7237145 rs199794557 |
1049 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390148386 rs199794557 |
1049 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262783284 rs879854206 |
1054 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7237147 rs200666305 |
1055 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390148444 rs772013981 |
1058 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772013981 CA390148445 CA7237148 |
1058 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390148465 rs1594789578 |
1060 | V>G | No |
ClinGen Ensembl |
|
|
rs780016600 CA7237149 |
1060 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1062 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7237167 rs374584051 |
1062 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA390149370 rs1209490315 |
1062 | I>M | No |
ClinGen gnomAD |
|
|
rs191793970 CA7237168 |
1062 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7237166 rs374584051 |
1062 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555372892 CA7237169 |
1069 | W>G | No |
ClinGen Ensembl |
|
|
CA390149450 rs1460421456 |
1070 | E>K | No |
ClinGen gnomAD |
|
|
CA7237171 rs754925215 |
1071 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7237172 rs781098083 |
1072 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390149490 rs1469950823 |
1073 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748047075 CA7237173 |
1075 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7237174 rs769448688 |
1078 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs541575886 CA390149555 |
1079 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541575886 CA7237176 COSM957186 |
1079 | G>R | endometrium Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs774000544 CA7237178 |
1080 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336100280 CA390149624 |
1085 | T>I | No |
ClinGen gnomAD |
|
|
rs559893511 CA7237180 |
1086 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1441243423 CA390149634 |
1086 | R>H | No |
ClinGen gnomAD |
|
|
CA7237182 rs762287021 |
1087 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196107573 CA390149651 |
1088 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7237185 rs750760469 |
1088 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750760469 CA7237184 |
1088 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390149654 rs1321520667 |
1089 | K>E | No |
ClinGen gnomAD |
|
|
rs1279989315 CA390149696 |
1092 | Y>* | No |
ClinGen gnomAD |
|
|
CA7237186 rs199704283 |
1092 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262783826 rs772901571 |
1093 | K>R | No |
ClinGen TOPMed |
|
|
CA390149736 rs1162643134 |
1095 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM957190 CA390149758 rs756012004 |
1099 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7237209 rs777710409 |
1099 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777710409 CA390149761 |
1099 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777710409 CA390149760 |
1099 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237208 rs756012004 |
1099 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456733570 CA390149764 |
1100 | S>C | No |
ClinGen TOPMed |
|
|
CA7237211 rs148792532 |
1102 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390149789 rs1300490152 |
1103 | K>N | No |
ClinGen gnomAD |
|
|
rs778748352 CA7237212 |
1104 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA390149793 rs1366499890 |
1104 | G>W | No |
ClinGen gnomAD |
|
|
CA7237213 rs745537882 |
1106 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779433042 CA262784764 |
1108 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779433042 CA7237215 |
1108 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262784768 rs1006856087 |
1108 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390149828 rs1186077406 |
1110 | R>Q | No |
ClinGen gnomAD |
|
|
rs770259945 CA7237217 |
1110 | R>W | Variant assessed as Somatic; 4.663e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1449980218 CA390149835 |
1111 | L>R | No |
ClinGen gnomAD |
|
|
CA7237219 rs763344651 |
1112 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA390149845 rs1594793254 |
1113 | L>P | No |
ClinGen Ensembl |
|
|
rs376966227 CA7237220 |
1115 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7237221 rs774653608 |
1116 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA262784785 rs1019608423 |
1117 | T>I | No |
ClinGen gnomAD |
|
|
rs1594793284 CA390149873 |
1118 | S>R | No |
ClinGen Ensembl |
|
|
CA390149934 rs1322621060 |
1123 | A>S | No |
ClinGen gnomAD |
|
|
rs1322621060 CA390149933 |
1123 | A>T | No |
ClinGen gnomAD |
|
|
CA7237225 rs752734853 |
1125 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA390149962 rs1311096158 |
1125 | R>S | No |
ClinGen gnomAD |
|
|
CA390149969 rs753796212 |
1126 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs760798085 CA7237227 |
1126 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237229 rs757167589 |
1126 | F>L | No |
ClinGen ExAC |
|
|
CA7237226 rs760798085 |
1126 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237228 rs753796212 |
1126 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7237231 rs79011208 |
1127 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7237230 rs79011208 |
1127 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7237232 rs79011208 |
1127 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7237236 rs746564549 |
1128 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7237234 rs746564549 |
1128 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs369563278 CA7237237 |
1128 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746564549 CA7237235 |
1128 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7237239 rs774706632 |
1134 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443961930 CA390150104 |
1139 | L>R | No |
ClinGen gnomAD |
|
|
CA390150113 rs1187943864 |
1140 | M>I | No |
ClinGen gnomAD |
|
|
CA7237265 rs765331177 |
1145 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1159679748 CA390150286 |
1149 | E>K | No |
ClinGen TOPMed |
|
|
CA7237268 rs370025777 |
1151 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390150332 rs1388812583 |
1153 | L>P | No |
ClinGen gnomAD |
|
|
CA7237269 rs75288035 |
1154 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1156 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262785585 rs992392045 |
1158 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7237270 rs754668275 |
1160 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs767102221 CA7237271 |
1161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs567513076 CA7237272 |
1162 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408419705 CA390150428 |
1165 | Q>H | No |
ClinGen Ensembl |
|
|
rs1369125643 CA390150426 |
1165 | Q>R | No |
ClinGen gnomAD |
|
|
CA390150438 rs1386784690 |
1167 | L>I | No |
ClinGen gnomAD |
|
|
rs755618005 CA7237273 |
1169 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362887502 CA390150459 |
1170 | Q>* | No |
ClinGen gnomAD |
|
|
CA390150458 rs1362887502 |
1170 | Q>E | No |
ClinGen gnomAD |
|
|
CA390150465 rs1275050030 |
1171 | V>I | No |
ClinGen gnomAD |
|
|
CA390150485 rs528286391 |
1173 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528286391 CA7237274 |
1173 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750921453 CA7237275 |
1173 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758782903 CA7237276 |
1176 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs897633956 CA262785641 |
1177 | P>L | No |
ClinGen Ensembl |
|
|
rs978292814 CA262785638 |
1177 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200119528 CA7237278 |
1179 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769056448 CA7237279 |
1179 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1179 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7237280 rs781558599 |
1182 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA7237281 rs748275820 |
1182 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs770711606 CA7237285 |
1186 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774213460 CA7237286 |
1189 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1278570164 CA390150863 |
1195 | M>I | No |
ClinGen gnomAD |
|
|
rs374373153 CA262785887 |
1195 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368561352 CA7237313 |
1198 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390150937 rs1480042363 |
1201 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs184138771 CA7237315 |
1205 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752088173 CA7237316 |
1206 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs980772009 CA262785903 |
1207 | S>F | No |
ClinGen Ensembl |
|
|
rs147064601 CA7237317 |
1208 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768020833 CA7237318 |
1208 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs147064601 CA262785905 |
1208 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390151034 rs1158616488 |
1211 | C>G | No |
ClinGen gnomAD |
|
|
CA390151038 rs1566766068 |
1211 | C>Y | No |
ClinGen Ensembl |
|
|
CA390151048 rs1424421721 |
1212 | I>V | No |
ClinGen gnomAD |
|
|
CA7237321 rs777848891 |
1213 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375847218 CA390151064 |
1213 | R>H | No |
ClinGen gnomAD |
|
|
rs777848891 CA390151060 |
1213 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA615187833 rs1408918288 |
1215 | Y>* | No |
ClinGen gnomAD |
|
|
CA7237324 rs778960187 |
1218 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390151162 rs1410570264 |
1220 | R>K | No |
ClinGen gnomAD |
|
|
rs745830388 CA7237325 |
1222 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA390151211 rs1566766165 |
1223 | P>A | No |
ClinGen Ensembl |
|
|
CA262785947 rs375832204 |
1228 | K>N | No |
ClinGen Ensembl |
|
|
rs1317426393 CA390151316 |
1230 | F>L | No |
ClinGen TOPMed |
|
|
rs775269273 CA7237328 |
1230 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237329 rs746792791 |
1232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA262786928 rs1055725998 |
1234 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA262786929 rs868673301 |
1235 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390152246 rs1388631734 |
1240 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7237342 rs372314133 |
1241 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390152278 rs1437511756 |
1242 | N>I | No |
ClinGen TOPMed |
|
|
rs377115216 CA7237343 |
1243 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778890465 CA7237344 |
1244 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283255070 CA390152294 |
1244 | L>V | No |
ClinGen gnomAD |
|
|
rs1325511675 CA390152307 |
1245 | V>A | No |
ClinGen TOPMed |
|
|
rs1273267862 CA390152317 |
1246 | W>* | No |
ClinGen gnomAD |
|
|
CA7237345 rs745881875 |
1247 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390152343 rs1222903613 |
1248 | A>T | No |
ClinGen TOPMed |
|
|
CA390152367 rs1249742980 |
1250 | N>D | No |
ClinGen gnomAD |
|
|
rs1447396293 CA390152371 |
1250 | N>S | No |
ClinGen gnomAD |
|
|
CA7237348 rs746844163 |
1254 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237349 rs369973144 |
1259 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594798590 CA390152478 |
1260 | N>D | No |
ClinGen Ensembl |
|
|
rs776435826 CA7237350 |
1260 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs769417411 CA7237352 |
1262 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA390152502 rs1386247587 |
1262 | M>T | No |
ClinGen gnomAD |
|
|
rs759161422 CA262787178 |
1264 | V>M | No |
ClinGen Ensembl |
|
|
rs770545289 CA7237372 |
1265 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770545289 CA390152534 |
1265 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748852091 CA7237371 |
1265 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390152538 rs1211269061 |
1266 | I>V | No |
ClinGen gnomAD |
|
|
rs773953790 CA7237373 |
1267 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1268 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931935171 CA262787188 |
1268 | Y>F | No |
ClinGen TOPMed |
|
|
CA390152561 rs1482180995 |
1269 | P>L | No |
ClinGen gnomAD |
|
|
rs769141639 CA7237375 |
1275 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7237378 rs765483517 |
1281 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7237379 rs199944423 |
1282 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390152645 rs1286418325 |
1282 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs912145059 CA262787216 |
1283 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763111133 CA7237380 |
1287 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7237382 rs766474283 |
1288 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs766474283 CA7237381 |
1288 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1299128310 CA390152690 |
1289 | S>Y | No |
ClinGen gnomAD |
|
|
CA390152694 rs1373063296 |
1290 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1298 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262787233 rs944988207 |
1298 | S>T | No |
ClinGen TOPMed |
|
|
rs1488215867 CA390152808 |
1305 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7237388 rs575092786 |
1306 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7237387 COSM1172217 rs200898221 |
1306 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
CA7237389 rs376236696 |
1307 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7237390 rs748974641 |
1310 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390152839 rs371360639 |
1311 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7237391 rs371360639 |
1311 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180702294 CA390152841 |
1311 | K>R | No |
ClinGen gnomAD |
|
|
rs779100816 CA7237438 |
1312 | I>T | No |
ClinGen ExAC |
|
|
CA390153161 rs1160734700 |
1313 | A>S | No |
ClinGen gnomAD |
|
|
CA390153159 rs1160734700 |
1313 | A>T | No |
ClinGen gnomAD |
|
|
rs763784031 CA7237439 |
1313 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390153173 rs1311920947 |
1314 | E>K | No |
ClinGen gnomAD |
|
|
rs775726616 CA7237441 |
1315 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7237443 rs118013098 |
1317 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375816648 CA7237444 |
1318 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390153231 rs1335160340 |
1318 | I>V | No |
ClinGen gnomAD |
|
|
rs963619586 CA262787824 |
1319 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761791605 CA7237445 |
1320 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305157307 CA390153336 |
1324 | N>D | No |
ClinGen TOPMed |
|
|
CA390153372 rs765112012 |
1326 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs765112012 CA7237446 |
1326 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1456628367 CA390153387 |
1327 | T>A | No |
ClinGen TOPMed |
|
|
CA390153396 rs1211754550 |
1327 | T>I | No |
ClinGen gnomAD |
|
|
CA390153401 rs1366450580 |
1328 | T>A | No |
ClinGen TOPMed |
|
|
CA390153439 rs1566770248 |
1331 | N>T | No |
ClinGen Ensembl |
|
|
CA7237450 rs762677155 |
1332 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390153453 rs1269022236 |
1332 | P>L | No |
ClinGen TOPMed |
|
|
CA390153460 rs1485869777 |
1333 | P>H | No |
ClinGen Ensembl |
|
|
rs751134271 CA7237452 |
1333 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390153458 rs751134271 |
1333 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs761759640 | 1334 | T>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761759640 | 1334 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205667470 CA390153482 |
1335 | N>S | No |
ClinGen TOPMed |
|
|
rs1373311108 CA390153507 |
1337 | P>H | No |
ClinGen gnomAD |
|
|
rs781325764 CA7237455 |
1338 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779343492 CA7237457 |
1339 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1330867936 CA390153528 |
1340 | C>G | No |
ClinGen gnomAD |
|
|
CA7237458 rs746162181 |
1340 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1300959878 CA390153542 |
1341 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390153565 rs1349712049 |
1343 | W>* | No |
ClinGen gnomAD |
|
|
CA7237461 rs747126998 |
1344 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7237460 rs780420441 |
1344 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251921046 CA390153581 |
1346 | D>A | No |
ClinGen gnomAD |
|
|
rs776810947 CA7237463 |
1346 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA262787974 rs868185843 |
1347 | G>R | No |
ClinGen Ensembl |
|
|
rs111462449 RCV000955009 CA7237465 |
1348 | R>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374778555 CA7237468 |
1348 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374778555 CA7237467 |
1348 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1350 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751187608 CA7237469 |
1351 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs568709786 CA262788008 |
1358 | T>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs752140789 CA7237472 |
1360 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767048669 CA7237471 |
1360 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7237473 rs757800146 |
1362 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA390153678 rs201241121 |
1362 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7237475 rs201241121 |
1362 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7237474 rs757800146 |
1362 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7237477 rs372841134 |
1365 | L>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9ULM0
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAELKVEAPA | SVDWQKRCLT | LETQLFRFRL | QASKIRELLA | DKMQELEQRL | LEAEQRAENA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ETQVGVMEEK | VKLSNLKNVD | SEGSLHRKYQ | ELLKAIKGKD | ELISQLEAQL | EKQKQMRAEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AKTVQEKAAK | IKEWVTLKLA | KLEMENQHLK | SHNQRLVEQV | GSLQDALEAI | QIAPSRKLLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PPYGAAEQDS | VPSEPGIQPM | GQDSGSQAQG | LKAAVLAPSP | GALQSKDSVS | EAASPLEDSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSTVHSGETV | EAKPLQPHLG | RESPPHQPCM | KLLTFRCSSA | SWGEGLVTAQ | RGMLPGTKTS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AREGGPGSSL | TLPKVRAPGT | PRDSIQLAKR | HHSQPQVGHG | HFGRVVNIET | EAFSALHPSG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPELESRARS | REEPEKMEME | EPPPAGKNEE | RESPKALGAE | LEEVELGNKP | PTPPLHQFSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WESRIYAVAT | SGMRLSDMSP | RSNTACCASS | PPALVSPGSF | SGLVYKNVTV | PVYTALKGRA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TQISNMPFMD | ESSGSDDDCS | SQASFRISVP | SSESRKTSGL | GSPRAIKRGV | SMSSLSSEGD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YAIPPDACSL | DSDYSEPEHK | LQRTSSYSTD | GLGLGGESLE | KSGYLLKMGS | QVKTWKRRWF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLRQGQIMYY | KSPSDVIRKP | QGQVDLNSRC | QIVRGEGSQT | FQLISEKKTY | YLTADSPSLL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EEWIRVLQSL | LKVQATGPPA | LLRGGTKPTV | KGWLTKVKHG | HSKVVWCALV | GKIFYYYRSH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EDKRPLGCLP | VRDAHIEEVD | RSCDSDEDYE | AGGTRRLLSS | HCTLVIHPTE | HSPTYLLIGT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KHEKDTWLYH | LTVAAGGSSA | KVGTAYEQLI | GKLMDGEGDP | DSPLWRHPML | CYSKDGLYAS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LTTLPSEALQ | TEALKLFKSC | QLFINVPVEA | ASVDYHVSLA | QTALQVCLVH | PELQSEIYCQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LMKQTSCRPP | QKYSLMQCWQ | LLALCAPLFL | PQHHFLWYVK | QQLQRHADPR | SETGQYATYC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QRAVERTLRT | GEREARPSRM | EVVSILLRNP | FHHSLPFSIP | VHFTNGTYHV | VGFDGSSTVD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EFLQRLNQEI | GMRKPSHSGF | ALFTDDPSGR | DLEHCLQGSV | KICDAISKWE | QAMKELHPGK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SEGGTRVVKL | MYKNRLYFRS | QVKGETDRER | LLLASQTSRE | IVAGRFPINK | ELALEMAALM |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| AQVEYGDLEK | PALPGPGGTS | PAKAQHLLQQ | VLDRFHPRRY | RHGAPAEQLR | HLADMLTTKW |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ATLQGCSPPE | CIRIYLTVAR | KWPFFGAKLF | AAQPAQLSSK | ENALVWIAVN | EDGVSILDHN |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| TMQVHITYPY | SSVTTFGGCR | DDFMLVIRSI | PDKSSGKSHI | EKLIFRMAAP | KIAEATFIMA |
| 1330 | 1340 | 1350 | 1360 | ||
| SYMNHCTTTV | NPPTNPPGAC | QLWELDGRQF | FSSVSCATKG | PTLL |