Q9UH90
PR
Gene name |
FBXO40 (FBX40, KIAA1195) |
Protein name |
F-box only protein 40 |
Names |
Muscle disease-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51725 |
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 Q9UH90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UH90-F1 | Predicted | AlphaFoldDB |
628 variants for Q9UH90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs771915884 | 2 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301988082 CA354097206 |
2 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354097184 rs868812343 |
2 | G>R | No |
ClinGen gnomAD |
|
|
CA354097221 rs1301988082 |
2 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA81854858 rs868812343 |
2 | G>W | No |
ClinGen gnomAD |
|
|
CA354097283 rs1262766001 |
4 | A>V | No |
ClinGen gnomAD |
|
|
CA2564291 rs372663316 |
5 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1418155 rs200897227 CA2564292 |
5 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200897227 CA2564293 |
5 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354097328 rs1251543654 |
6 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354097335 rs1455917794 |
6 | R>S | No |
ClinGen gnomAD |
|
|
CA81854875 rs934090853 |
7 | S>P | No |
ClinGen TOPMed |
|
|
CA2564294 COSM289157 rs141957650 |
8 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1215455446 CA354097406 |
10 | G>R | No |
ClinGen TOPMed |
|
|
rs1156460404 CA354097439 |
11 | H>Y | No |
ClinGen gnomAD |
|
|
rs762165273 CA2564297 |
12 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2564298 rs767925029 |
13 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354097505 rs1324909216 |
13 | R>S | No |
ClinGen gnomAD |
|
|
rs1227825419 CA354097515 |
14 | H>R | No |
ClinGen TOPMed |
|
|
rs201682619 CA2564299 |
14 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354097593 rs1443006683 |
17 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755812603 CA2564300 |
17 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2564301 rs766068582 |
20 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs572469869 CA2564302 COSM50779 |
21 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2564303 rs541557417 |
21 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541557417 CA354097699 |
21 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572469869 CA354097683 COSM581093 |
21 | R>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA354097713 rs1560132174 |
22 | H>Y | No |
ClinGen Ensembl |
|
|
CA354097785 rs1329778919 |
24 | H>D | No |
ClinGen TOPMed |
|
|
CA354097794 rs1560132181 |
24 | H>R | No |
ClinGen Ensembl |
|
|
rs778338031 CA2564304 |
25 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA81854938 rs1005332275 |
28 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs887864656 CA81854935 |
28 | E>K | No |
ClinGen TOPMed |
|
|
CA2564305 rs146315916 |
30 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1576455443 CA354098040 |
31 | T>P | No |
ClinGen Ensembl |
|
|
CA354098071 rs1232854409 |
32 | S>Y | No |
ClinGen gnomAD |
|
|
CA354098104 rs1288000356 |
33 | C>F | No |
ClinGen gnomAD |
|
|
CA354098242 rs1174925244 |
37 | S>I | No |
ClinGen gnomAD |
|
|
CA354098272 rs1409547880 |
38 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484652884 CA354098321 |
39 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354098313 rs1158895419 |
39 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 39 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777650887 CA2564307 |
42 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs746832327 CA2564308 |
43 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA81854956 rs777449089 |
44 | A>V | No |
ClinGen TOPMed |
|
|
rs140885171 CA2564310 |
45 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140885171 CA2564309 |
45 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564312 rs150156546 |
48 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187581198 CA2564313 |
50 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA81854993 rs187581198 |
50 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220882247 CA354098740 |
51 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354098962 rs1473522638 |
56 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs373996619 CA81855012 |
58 | C>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564317 rs145481901 |
62 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140234141 CA2564318 |
63 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1252270 CA81855032 rs867810277 |
64 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 64 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368836892 CA354099284 |
65 | C>Y | No |
ClinGen TOPMed |
|
|
rs951502692 CA81855041 |
66 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1306212038 CA354099305 |
66 | L>H | No |
ClinGen gnomAD |
|
|
CA2564320 rs759122783 |
67 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564322 rs752103278 |
68 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA354099412 rs1476001221 |
69 | E>D | No |
ClinGen gnomAD |
|
|
CA2564324 rs777614025 |
69 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354099437 rs1576455509 |
70 | Y>* | No |
ClinGen Ensembl |
|
|
CA81855060 rs1017636053 |
71 | G>S | No |
ClinGen gnomAD |
|
|
CA2564325 rs78986173 |
72 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs986296977 CA81855078 |
73 | P>L | No |
ClinGen TOPMed |
|
|
rs957384335 CA81855065 |
73 | P>S | No |
ClinGen TOPMed |
|
|
CA2564329 rs768956250 |
75 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs773658054 CA2564333 |
76 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2564330 CA354099574 rs779072550 |
76 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2564331 rs561543642 |
76 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2564332 rs561543642 |
76 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771291674 CA2564335 |
77 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2564334 rs527341033 |
77 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2564337 rs759210454 |
78 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78367832 CA2564338 COSM39113 |
78 | R>H | kidney large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA81855187 rs377285885 |
83 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762439267 CA2564340 |
84 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354099793 rs1488054180 |
84 | H>R | No |
ClinGen TOPMed |
|
|
rs4676684 VAR_030005 CA2564342 |
87 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1213413752 CA354099856 |
87 | V>L | No |
ClinGen TOPMed |
|
|
CA354099879 rs1364777817 |
88 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354099875 rs1217940853 |
88 | C>Y | No |
ClinGen TOPMed |
|
|
CA2564345 rs201011500 |
90 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564346 rs148128733 |
92 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755950742 CA2564347 |
94 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755950742 CA354100013 |
94 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354100047 rs1377362205 |
95 | C>F | No |
ClinGen gnomAD |
|
|
rs894284209 CA81855215 |
96 | S>C | No |
ClinGen TOPMed |
|
|
rs748396801 CA2564349 |
101 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564350 rs758423510 |
101 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81855225 rs915181976 |
102 | W>* | No |
ClinGen gnomAD |
|
|
rs745710712 CA81855224 |
102 | W>* | No |
ClinGen TOPMed |
|
|
rs745710712 CA354100229 |
102 | W>L | No |
ClinGen TOPMed |
|
|
rs1194392308 CA354100223 |
102 | W>R | No |
ClinGen TOPMed |
|
|
CA354100260 rs1261239512 |
103 | P>A | No |
ClinGen TOPMed |
|
|
CA354100301 rs1483721923 |
104 | N>K | No |
ClinGen TOPMed |
|
|
CA354100291 rs1202372469 |
104 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2564351 rs777845129 |
105 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570315447 CA81855243 |
106 | D>H | No |
ClinGen 1000Genomes |
|
|
rs1370843674 CA354100365 |
107 | S>F | No |
ClinGen gnomAD |
|
|
rs903106868 CA81855247 |
107 | S>P | No |
ClinGen TOPMed |
|
|
rs946645796 CA81855267 |
110 | T>I | No |
ClinGen TOPMed |
|
|
CA2564353 rs771379652 |
112 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777104772 CA2564354 |
114 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354100554 rs1200661274 |
115 | I>L | No |
ClinGen gnomAD |
|
|
rs142028632 CA2564355 |
115 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770193085 CA2564356 |
118 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1294643995 CA354100648 |
118 | E>V | No |
ClinGen TOPMed |
|
|
rs775065669 CA2564357 |
119 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA354100674 rs1248430945 |
119 | T>I | No |
ClinGen gnomAD |
|
|
CA81855293 rs1056199005 |
120 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763515142 CA2564359 |
120 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1007346895 CA81855294 |
121 | S>N | No |
ClinGen TOPMed |
|
|
rs1382529404 CA354100727 |
122 | E>G | No |
ClinGen gnomAD |
|
|
rs34751480 CA2564360 |
123 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767611473 CA2564362 |
124 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs370258531 CA2564363 |
126 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2564364 rs756038658 |
127 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328583816 CA354100879 |
128 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2564366 rs766181328 |
129 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564367 rs752867730 |
130 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1403611206 CA354100985 |
133 | D>A | No |
ClinGen gnomAD |
|
|
rs1424596512 CA354100976 |
133 | D>Y | No |
ClinGen TOPMed |
|
|
CA81855330 rs976661978 |
135 | K>E | No |
ClinGen TOPMed |
|
|
CA2564368 rs549329473 |
136 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA81855340 rs549329473 |
136 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA81855345 rs549329473 |
136 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA81855360 rs267599566 |
140 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs267599566 CA2564369 |
140 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564372 CA2564371 rs757299930 |
143 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1269425440 CA354101199 |
143 | M>V | No |
ClinGen gnomAD |
|
|
rs1244900698 CA354101253 |
146 | L>H | No |
ClinGen TOPMed |
|
|
CA2564373 rs746363538 |
146 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564374 rs770070135 |
147 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA354101295 rs1160266850 |
149 | E>Q | No |
ClinGen gnomAD |
|
|
CA81855403 rs909232803 |
150 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2564376 rs748921319 |
151 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375428007 CA2564377 |
151 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs566081092 CA2564379 |
152 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774121135 CA2564378 |
152 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767131081 CA2564380 |
154 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA354101527 rs1576455678 |
157 | E>G | No |
ClinGen Ensembl |
|
|
CA2564383 rs200154550 |
158 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1333841762 CA354101568 |
160 | M>V | No |
ClinGen gnomAD |
|
|
rs997067161 CA81855459 |
164 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2564384 rs753621120 |
164 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs199575816 CA2564386 |
167 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2564387 rs372552970 |
168 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354101718 rs372552970 |
168 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2564389 rs781193078 |
171 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564388 rs757387582 |
171 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2564390 rs371738482 |
172 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354101793 rs1474364958 |
173 | V>A | No |
ClinGen gnomAD |
|
|
CA354101829 rs1576455700 |
176 | V>G | No |
ClinGen Ensembl |
|
|
rs756600680 CA2564391 |
176 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1441822615 CA354101833 |
177 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354101857 rs1461918005 |
178 | I>T | No |
ClinGen gnomAD |
|
|
CA2564395 rs201761738 |
179 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768870158 CA2564394 |
179 | G>S | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2564396 rs747786850 |
180 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1308144556 CA354101878 |
180 | L>S | No |
ClinGen gnomAD |
|
|
CA354101892 rs1576455742 |
181 | V>G | No |
ClinGen Ensembl |
|
|
CA2564397 rs771720396 |
181 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2564399 rs760554899 |
183 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA81855518 rs949854189 |
183 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs142982539 CA2564400 |
184 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354101936 rs1205904264 |
185 | L>M | No |
ClinGen gnomAD |
|
|
CA2564401 rs776402291 |
186 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241824026 CA354101973 |
188 | T>A | No |
ClinGen TOPMed |
|
|
CA2564402 rs759446632 |
188 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564403 rs759446632 |
188 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354102011 rs1183891367 |
191 | E>K | No |
ClinGen gnomAD |
|
|
CA81855559 rs147448149 |
192 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA354102092 rs1191628819 |
196 | S>N | No |
ClinGen gnomAD |
|
|
rs1237704052 CA354102119 |
198 | E>K | No |
ClinGen TOPMed |
|
|
CA2564408 rs756122429 |
200 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564406 rs376105815 |
200 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1386190956 CA354102202 |
203 | L>P | No |
ClinGen TOPMed |
|
|
rs1168606426 CA354102196 |
203 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374324241 CA354102274 |
208 | E>Q | No |
ClinGen gnomAD |
|
|
rs369747294 CA2564409 |
209 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2564411 rs755451725 |
210 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs374090102 CA2564410 |
210 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354102341 rs1295165848 |
212 | L>P | No |
ClinGen gnomAD |
|
|
CA354102356 rs1399557340 |
213 | V>A | No |
ClinGen Ensembl |
|
|
rs556118975 CA2564414 |
215 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777545387 CA2564415 |
216 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200119759 CA354102431 |
219 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA354102513 rs1250306962 |
223 | S>R | No |
ClinGen gnomAD |
|
|
CA2564418 rs770345962 |
224 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354102534 rs1560132531 |
225 | E>K | No |
ClinGen Ensembl |
|
|
rs148776238 CA2564420 |
227 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1431000491 COSM1418158 CA354102575 |
228 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs901626100 CA81855633 |
229 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354102595 rs901626100 |
229 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs767772217 CA2564424 |
232 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2564423 rs762041808 |
232 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1284871073 CA354102663 |
234 | S>L | No |
ClinGen TOPMed |
|
|
rs760874090 CA2564426 |
236 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354102691 rs1232436393 |
238 | C>S | No |
ClinGen TOPMed |
|
|
rs754382635 CA2564428 |
238 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354102708 rs1365543030 |
240 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354102706 rs1365543030 |
240 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1560132557 CA354102710 |
240 | S>R | No |
ClinGen Ensembl |
|
|
rs1576455826 CA354102715 |
241 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 243 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564430 rs765719429 |
244 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2564431 rs145400219 |
245 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354102750 rs1443807683 |
246 | S>P | No |
ClinGen Ensembl |
|
|
rs777550766 CA2564433 |
247 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA81855723 rs1056128667 |
248 | K>E | No |
ClinGen Ensembl |
|
|
CA2564434 rs142436040 |
248 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2564435 rs756807753 |
249 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251722518 CA354102788 |
251 | I>S | No |
ClinGen gnomAD |
|
|
rs763898208 CA2564437 |
253 | S>S* | No |
ClinGen ExAC |
|
|
CA354102831 rs1404758423 |
254 | G>D | No |
ClinGen TOPMed |
|
|
rs1388927762 CA354102849 |
255 | H>R | No |
ClinGen gnomAD |
|
|
rs1418148641 CA354102904 |
257 | M>T | No |
ClinGen gnomAD |
|
|
CA2564439 rs769667052 |
258 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354102925 rs1156581614 |
258 | V>I | No |
ClinGen gnomAD |
|
|
rs1156581614 CA354102927 |
258 | V>L | No |
ClinGen gnomAD |
|
|
CA81855750 rs368822929 |
260 | G>R | No |
ClinGen Ensembl |
|
|
rs768432931 CA354103017 CA2564442 |
261 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749119690 CA2564441 |
261 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2564444 rs760748351 |
263 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385943124 CA354103077 |
264 | P>S | No |
ClinGen gnomAD |
|
|
rs1195128012 CA354103095 |
265 | K>Q | No |
ClinGen TOPMed |
|
|
CA2564446 rs766483889 |
265 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354103135 rs1560132607 |
266 | K>R | No |
ClinGen Ensembl |
|
|
rs1191022948 CA354103227 |
270 | Q>* | No |
ClinGen TOPMed |
|
|
CA354103254 rs1233009472 |
271 | E>K | No |
ClinGen gnomAD |
|
|
rs148662250 CA2564451 |
275 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA81855815 rs997528078 |
275 | Q>K | No |
ClinGen TOPMed |
|
|
CA81855826 rs1028598843 |
276 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 276 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM419906 rs1342710359 CA354103418 |
277 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs200968444 CA354103456 |
278 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2564454 rs200968444 |
278 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2564453 rs142245957 |
278 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564455 COSM1036942 rs756823315 |
279 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780772798 CA2564456 |
279 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428879185 CA354103498 |
280 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354103516 rs1342543486 |
282 | M>T | No |
ClinGen TOPMed |
|
|
rs745428254 CA2564457 |
282 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186887675 CA354103530 |
283 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA81855877 rs371795672 |
284 | T>I | No |
ClinGen ESP |
|
|
rs375349813 CA2564458 |
286 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354103607 rs1407013363 |
287 | L>F | No |
ClinGen gnomAD |
|
|
rs1407013363 CA354103605 |
287 | L>V | No |
ClinGen gnomAD |
|
|
rs1165466453 CA354103622 |
288 | A>S | No |
ClinGen gnomAD |
|
|
CA2564459 rs151216821 |
288 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054759381 CA81855931 |
289 | P>S | No |
ClinGen TOPMed |
|
|
CA354103692 rs1427951264 |
291 | Q>R | No |
ClinGen gnomAD |
|
|
CA81855947 rs1031631099 |
292 | D>G | No |
ClinGen TOPMed |
|
|
CA354103697 rs1173480653 |
292 | D>N | No |
ClinGen TOPMed |
|
|
CA81855948 rs914496819 |
293 | G>A | No |
ClinGen TOPMed |
|
|
CA2564462 rs773950495 |
294 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354103770 rs1473542326 |
295 | L>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532900090 CA2564466 |
298 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2564469 rs763489731 |
306 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354104022 rs1483141967 |
306 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354104008 rs1202347095 |
306 | D>Y | No |
ClinGen gnomAD |
|
|
CA354104035 rs140255370 |
307 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140255370 CA2564470 |
307 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200610628 CA81856017 |
309 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200610628 CA354104102 |
309 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564472 rs200610628 |
309 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367946510 CA354104132 |
310 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980994977 CA81856020 |
310 | Y>S | No |
ClinGen gnomAD |
|
|
CA81856026 rs200605943 |
311 | L>P | No |
ClinGen Ensembl |
|
|
rs750069806 CA2564475 |
314 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1342716016 CA354104232 |
315 | G>A | No |
ClinGen Ensembl |
|
|
rs375409362 CA2564477 |
316 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1736953 rs755676833 CA2564476 |
316 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354104313 rs1449165362 |
319 | I>M | No |
ClinGen gnomAD |
|
|
CA2564478 rs776693271 |
320 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354104318 rs1270006903 |
320 | H>Y | No |
ClinGen gnomAD |
|
|
CA2564479 rs759738356 |
322 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231263582 CA354104374 |
322 | G>S | No |
ClinGen gnomAD |
|
|
CA354104433 rs1333869125 |
324 | M>T | No |
ClinGen TOPMed |
|
|
rs1342332396 CA354104498 |
326 | A>V | No |
ClinGen gnomAD |
|
|
CA354104527 rs1448154991 |
327 | C>W | No |
ClinGen TOPMed |
|
|
CA2564480 rs778790585 |
328 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747934026 CA2564481 |
328 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354104590 rs1443817650 |
329 | P>L | No |
ClinGen gnomAD |
|
|
rs746032533 CA2564484 |
332 | R>K | No |
ClinGen ExAC |
|
|
rs770000601 CA2564485 |
333 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354104688 rs1406637388 |
334 | F>L | No |
ClinGen TOPMed |
|
|
rs1463435203 CA354104705 |
335 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 340 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190505666 CA354104867 |
341 | A>G | No |
ClinGen gnomAD |
|
|
CA354104892 rs1390845279 |
342 | Q>R | No |
ClinGen gnomAD |
|
|
COSM1693261 CA2564487 rs775675600 |
343 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2564488 rs763579393 |
345 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1576456021 CA354104969 |
345 | K>R | No |
ClinGen Ensembl |
|
|
CA354105002 rs1170928543 |
346 | T>I | No |
ClinGen gnomAD |
|
|
CA354105022 rs1442441214 |
347 | V>A | No |
ClinGen TOPMed |
|
|
rs1179080886 CA354105053 |
348 | Y>* | No |
ClinGen TOPMed |
|
|
CA354105033 rs1427474081 |
348 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1192098419 CA354105082 |
349 | T>I | No |
ClinGen gnomAD |
|
|
CA2564490 rs143992690 |
351 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236291932 CA354105181 |
352 | V>F | No |
ClinGen TOPMed |
|
|
CA354105219 rs1437886966 |
354 | V>L | No |
ClinGen gnomAD |
|
|
rs1038101856 CA81856062 |
355 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354105331 rs762148803 |
357 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564494 rs767906927 |
360 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354105412 rs550316946 |
360 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550316946 CA2564495 |
360 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1267250122 CA354105442 |
361 | A>V | No |
ClinGen gnomAD |
|
|
CA2564496 COSM1693262 rs760251198 |
362 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354105494 rs1248528956 |
365 | D>G | No |
ClinGen gnomAD |
|
|
CA2564497 rs765905124 |
365 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560132791 CA354105513 |
366 | A>V | No |
ClinGen Ensembl |
|
|
CA2564498 rs753295687 |
367 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2564499 rs754480800 |
367 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564500 rs778783763 |
369 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA81856142 rs775874889 |
370 | C>G | No |
ClinGen Ensembl |
|
|
rs758143108 CA2564502 |
370 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777647610 CA2564503 |
372 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746126929 CA2564504 |
373 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs140923790 CA81856165 |
374 | E>K | No |
ClinGen ESP |
|
|
CA2564505 rs201882585 |
375 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2564506 rs761134888 |
376 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535590920 CA81856177 |
378 | V>A | No |
ClinGen Ensembl |
|
|
CA354105832 CA81856189 rs970825253 |
379 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2564507 rs749363781 |
379 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA354105843 rs768773333 |
380 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768773333 CA2564508 |
380 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA354105870 rs1341061331 |
382 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1287376471 CA354105895 |
383 | L>S | No |
ClinGen gnomAD |
|
|
CA2564509 rs150110746 |
383 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354105905 rs1348280245 |
384 | G>E | No |
ClinGen gnomAD |
|
|
rs978554717 CA81856206 |
385 | I>N | No |
ClinGen TOPMed |
|
|
rs762374838 CA2564512 |
386 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81856229 rs867887704 |
389 | D>N | No |
ClinGen Ensembl |
|
|
CA354106010 rs1208062988 |
390 | L>V | No |
ClinGen gnomAD |
|
|
CA354106040 rs1288467469 |
392 | K>R | No |
ClinGen TOPMed |
|
|
rs760342900 CA2564514 |
393 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs766068748 CA2564515 |
395 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2564516 rs149191160 |
397 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2564517 rs377117443 |
398 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354106103 rs1473707888 |
399 | T>A | No |
ClinGen gnomAD |
|
|
CA81856267 rs79455541 |
400 | L>P | No |
ClinGen 1000Genomes |
|
|
CA2564518 rs764748179 |
400 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354106130 rs1221433927 |
401 | Q>P | No |
ClinGen TOPMed |
|
|
rs970533581 CA81856284 |
406 | R>T | No |
ClinGen Ensembl |
|
|
rs943288636 CA81856285 |
408 | L>V | No |
ClinGen TOPMed |
|
|
CA354106243 rs1165566698 |
409 | K>R | No |
ClinGen gnomAD |
|
|
rs1392227891 CA354106252 |
410 | G>S | No |
ClinGen gnomAD |
|
|
CA354106277 rs764006927 |
411 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143415272 CA2564522 |
412 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2564523 rs143415272 |
412 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749510221 CA2564525 |
413 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs749510221 CA354106295 |
413 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA354106340 rs1245028468 |
417 | R>G | No |
ClinGen gnomAD |
|
|
CA81856318 rs764552176 |
417 | R>S | No |
ClinGen gnomAD |
|
|
CA354106354 rs1418761699 |
418 | S>G | No |
ClinGen TOPMed |
|
|
CA2564526 rs755024056 |
418 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs755024056 CA2564527 |
418 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs369423447 CA354106376 |
419 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369423447 CA2564529 |
419 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354106385 rs1204460691 |
420 | D>N | No |
ClinGen gnomAD |
|
|
rs374623698 CA2564532 |
424 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374623698 CA354106446 |
424 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376716888 CA2564533 |
425 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs886197282 CA81856356 |
426 | F>L | No |
ClinGen TOPMed |
|
|
CA354106475 rs1255885498 |
426 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354106496 rs1576456135 |
428 | T>A | No |
ClinGen Ensembl |
|
|
CA2564534 rs369070659 |
428 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369070659 CA354106497 |
428 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354106514 rs1259316670 |
431 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 431 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354106526 rs775019825 |
432 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564535 rs201421773 |
432 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 433 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354106535 rs1285848634 |
433 | F>L | No |
ClinGen gnomAD |
|
|
rs765718437 CA81856366 |
437 | Q>E | No |
ClinGen Ensembl |
|
|
CA354106566 rs1449413103 |
438 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1693263 rs1167347201 CA354106578 |
439 | S>F | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2564537 rs200497241 |
442 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372367097 CA81856383 |
443 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372367097 CA354106596 |
443 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA354106602 rs1188304676 |
444 | L>V | No |
ClinGen gnomAD |
|
|
rs1576456153 CA354106615 |
446 | D>A | No |
ClinGen Ensembl |
|
|
rs375954041 CA2564539 |
448 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143267823 CA2564542 |
449 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143267823 CA2564541 |
449 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564543 rs200647871 |
452 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778879981 CA2564544 |
453 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748307138 CA2564546 |
454 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs748307138 CA2564545 |
454 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA354106687 rs1229379708 |
454 | G>V | No |
ClinGen gnomAD |
|
|
rs1482413930 CA354106695 |
455 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs143931074 CA2564549 |
457 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2564548 COSM1536259 rs138259890 |
457 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs138259890 CA354106715 |
457 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576456188 CA354106739 |
458 | E>D | No |
ClinGen Ensembl |
|
|
COSM161018 CA2564550 rs781583571 |
458 | E>Q | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1421475357 CA354106793 |
461 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs150634995 CA2564552 |
462 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765814758 CA2564551 |
462 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751214057 CA81856501 |
463 | C>R | No |
ClinGen TOPMed |
|
|
rs1576456205 CA354106838 |
463 | C>Y | No |
ClinGen Ensembl |
|
|
CA354106913 rs1464239848 |
466 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774979444 CA2564553 |
467 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2564555 rs762614859 |
468 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1318513237 CA354106977 |
470 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1396164274 CA354107035 |
472 | S>N | No |
ClinGen gnomAD |
|
|
rs372208925 CA2564557 |
474 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1031472580 CA81856523 |
475 | F>L | No |
ClinGen TOPMed |
|
|
CA2564558 rs761773313 |
477 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA354107219 rs1382802945 |
478 | T>P | No |
ClinGen gnomAD |
|
|
rs767246396 CA2564559 |
479 | C>W | No |
ClinGen ExAC |
|
| TCGA novel | 479 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs958185624 CA81856527 |
482 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354107407 rs1576456233 |
484 | R>M | No |
ClinGen Ensembl |
|
|
rs1043441988 CA81856531 |
485 | R>K | No |
ClinGen Ensembl |
|
|
rs989962397 CA81856540 |
486 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760364901 CA2564561 |
488 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354107542 rs760364901 |
488 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354107563 rs1256946102 |
488 | F>L | No |
ClinGen gnomAD |
|
|
rs1314424609 COSM1036944 CA354107569 |
489 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA354107631 rs1186530751 |
491 | H>R | No |
ClinGen gnomAD |
|
|
CA2564564 rs758487971 |
491 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1001984813 CA81856551 |
494 | N>T | No |
ClinGen gnomAD |
|
|
CA354107792 rs1238352650 |
496 | H>Y | No |
ClinGen gnomAD |
|
|
rs1177863939 CA354108406 |
498 | D>E | No |
ClinGen gnomAD |
|
|
rs1429706281 CA354108414 |
499 | I>V | No |
ClinGen gnomAD |
|
|
rs1033518212 CA81856555 |
500 | Q>* | No |
ClinGen Ensembl |
|
|
rs777764716 CA2564565 |
501 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs757714918 CA2564567 |
502 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354108529 rs1448891028 |
506 | W>* | No |
ClinGen TOPMed |
|
|
CA354108537 rs1365653498 |
507 | F>V | No |
ClinGen gnomAD |
|
|
rs780903030 CA2564569 |
509 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564570 rs537164095 COSM1036948 |
510 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564571 rs779809283 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1015550336 CA81856586 |
511 | C>F | No |
ClinGen TOPMed |
|
|
CA354108650 rs1317973704 |
513 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 513 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139593536 CA2564575 |
514 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772991278 CA2564577 |
515 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564578 rs760584868 |
517 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA2564579 rs149716243 |
517 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374431438 CA81856620 |
518 | C>G | No |
ClinGen ESP |
|
|
CA81856628 rs932945597 |
519 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2564580 rs752921762 |
520 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1479360027 CA354108808 |
521 | V>I | No |
ClinGen TOPMed |
|
|
rs763123334 CA354108916 |
524 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2564581 rs763123334 |
524 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200075101 CA2564582 |
526 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564583 rs144524810 |
526 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA81856648 rs367937919 |
527 | P>H | No |
ClinGen ESP TOPMed |
|
|
COSM1036950 rs757256594 CA2564584 |
527 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA354109079 rs1303862756 |
530 | Q>E | No |
ClinGen gnomAD |
|
|
rs953829652 CA81856653 |
530 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs953829652 CA354109091 |
530 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1037822357 CA354109122 |
532 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA81856659 rs1037822357 |
532 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 534 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228229710 CA354109201 |
535 | I>T | No |
ClinGen gnomAD |
|
|
rs756510670 CA2564587 |
536 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2564586 rs750877265 COSM372249 |
536 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781782231 CA2564585 |
536 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA354109244 rs1291878766 |
537 | S>I | No |
ClinGen gnomAD |
|
|
rs139410753 CA2564588 |
538 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2564589 rs555241065 |
538 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555241065 CA354109283 |
538 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354109312 rs1234372308 |
539 | E>G | No |
ClinGen gnomAD |
|
|
rs747700660 CA2564592 |
542 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564593 rs771478160 |
542 | T>N | No |
ClinGen ExAC |
|
|
CA354109394 rs1164216615 |
543 | F>S | No |
ClinGen gnomAD |
|
|
rs746854889 CA2564595 |
544 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776362576 CA2564597 |
546 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1310136205 CA354109443 |
546 | K>R | No |
ClinGen gnomAD |
|
|
rs144132932 COSM1418162 CA2564598 |
547 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM317353 CA2564600 rs540611706 |
548 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 548 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354109467 rs1247436555 |
549 | V>F | No |
ClinGen gnomAD |
|
|
CA81856700 rs762015433 |
550 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762015433 CA2564601 |
550 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 551 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564602 rs141908054 |
552 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381372886 CA354109505 |
554 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 555 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564605 rs766869702 |
555 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA81856712 rs999929258 |
555 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 556 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354109557 rs1417927879 |
556 | G>E | No |
ClinGen TOPMed |
|
|
rs1209095204 CA354109616 |
558 | K>* | No |
ClinGen gnomAD |
|
|
CA2564606 rs754301909 |
559 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354109679 rs1560133133 |
560 | N>S | No |
ClinGen Ensembl |
|
|
rs371598644 COSM1206840 CA2564607 |
562 | L>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200683705 CA2564608 |
563 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564609 rs375253207 |
565 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1218453722 CA354109850 |
566 | G>A | No |
ClinGen TOPMed |
|
|
rs1354118065 CA354109906 |
569 | S>R | No |
ClinGen TOPMed |
|
|
CA81856725 rs142139104 COSM1036954 |
572 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs1378075658 CA354110068 |
574 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1225905405 CA354110079 |
574 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1378075658 CA354110047 |
574 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs35106461 CA81856729 |
575 | S>N | No |
ClinGen Ensembl |
|
|
CA81856733 rs201570535 |
575 | S>R | No |
ClinGen gnomAD |
|
|
CA81856745 rs1031021764 |
577 | P>T | No |
ClinGen TOPMed |
|
|
CA2564612 rs746991047 |
578 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 579 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354110239 rs1301502084 |
580 | I>T | No |
ClinGen TOPMed |
|
|
CA2564613 rs770824338 |
580 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776521736 CA2564615 |
583 | Y>* | No |
ClinGen ExAC |
|
|
rs1421795294 CA354110381 |
583 | Y>C | No |
ClinGen TOPMed |
|
|
rs779097611 CA354110393 |
584 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779097611 CA2564616 |
584 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 585 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564617 rs769567262 |
585 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2564618 rs140154336 |
586 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354110585 rs1265114436 |
590 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2564619 rs368217296 |
590 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2564621 rs773119943 |
591 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354110635 rs773119943 |
591 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325477603 CA354110669 |
592 | S>G | No |
ClinGen gnomAD |
|
|
rs184673980 CA2564623 |
592 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184673980 CA354110680 |
592 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184673980 CA2564622 |
592 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34348750 CA2564624 |
594 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA81856794 rs145018488 |
594 | A>T | No |
ClinGen 1000Genomes |
|
|
rs752424663 CA2564627 |
601 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA81856812 rs973144231 |
602 | L>P | No |
ClinGen Ensembl |
|
|
CA2564628 rs560066260 |
603 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354111014 COSM138389 rs1158926805 |
604 | R>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs777458705 CA2564629 |
606 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2564630 rs751068036 |
610 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781160734 CA2564633 |
612 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA2564634 rs745742906 |
612 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs769585447 CA2564635 |
614 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347042413 CA354111254 |
615 | G>V | No |
ClinGen gnomAD |
|
|
rs779787731 CA2564636 |
616 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1326904674 CA354111286 |
617 | V>A | No |
ClinGen gnomAD |
|
|
rs748427565 CA2564637 |
617 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs528828647 CA81856879 |
621 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA354111351 rs528828647 |
621 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA2564638 rs200687176 |
622 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1285021422 CA354111393 |
623 | K>N | No |
ClinGen gnomAD |
|
|
rs773454337 CA2564639 |
626 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs777291696 CA2564642 |
630 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs973104741 CA81856906 |
631 | T>A | No |
ClinGen TOPMed |
|
|
CA2564643 rs147922715 |
631 | T>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs147922715 CA354111544 |
631 | T>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA354111564 rs1410304579 |
632 | S>F | No |
ClinGen gnomAD |
|
|
CA2564644 rs141873915 |
634 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM445386 rs753051384 CA2564646 |
638 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766296556 CA2564675 |
639 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 640 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2564676 rs147110063 |
643 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354112674 rs1360317821 |
643 | S>R | No |
ClinGen gnomAD |
|
|
rs147110063 CA354112668 |
643 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2564677 rs754743192 |
645 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196689436 CA354112907 |
651 | S>G | No |
ClinGen gnomAD |
|
|
CA2564680 rs757601146 |
651 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149561440 CA2564681 |
652 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA81859028 rs918348596 |
652 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1576457467 CA354112931 |
652 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 652 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354112976 rs1389509810 |
653 | E>A | No |
ClinGen TOPMed |
|
|
CA354113137 rs1444673229 |
656 | E>Q | No |
ClinGen gnomAD |
|
|
rs143310041 CA2564684 |
658 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143310041 CA354113209 |
658 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA81859055 rs931468551 |
661 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2564685 rs749733958 |
663 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354113404 rs1188433674 |
665 | K>E | No |
ClinGen TOPMed |
|
|
rs1423465856 CA354113490 |
667 | C>* | No |
ClinGen TOPMed |
|
|
CA354113493 rs1450325819 |
668 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768937464 CA2564686 |
669 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs768937464 CA354113518 |
669 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs369505735 CA2564687 |
670 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354113595 rs1309415707 |
671 | I>T | No |
ClinGen gnomAD |
|
|
rs1293539300 CA354113567 |
671 | I>V | No |
ClinGen gnomAD |
|
|
rs561152567 CA2564689 |
672 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201469150 CA354113645 |
673 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1261008358 CA354113700 |
674 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354113759 rs1274515259 |
676 | T>A | No |
ClinGen TOPMed |
|
|
rs147521206 CA2564690 |
678 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354113875 rs1421143754 |
679 | I>T | No |
ClinGen gnomAD |
|
|
CA2564692 rs765858629 |
680 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA81859120 rs937640405 |
684 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199789445 CA2564694 |
684 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354114013 rs1410186577 |
685 | C>R | No |
ClinGen TOPMed |
|
|
CA2564695 COSM1418164 rs755825702 |
688 | R>C | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM202797 rs753413931 CA2564696 |
688 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1467996827 CA354114162 |
691 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs146248987 CA2564699 |
692 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146248987 CA2564698 |
692 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2564700 rs145693847 |
692 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415926236 CA354114197 |
693 | E>G | No |
ClinGen TOPMed |
|
|
CA2564701 rs780137251 |
693 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA81859418 rs369470898 |
696 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA2564704 rs774811200 |
702 | R>S | No |
ClinGen ExAC |
|
|
rs147555575 CA354114496 |
703 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2564706 rs772415229 |
703 | P>L | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2564705 rs147555575 |
703 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM419905 CA2564707 rs139292085 |
704 | R>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2564708 rs373304473 |
704 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1289928607 CA354114526 |
705 | G>E | No |
ClinGen TOPMed |
|
|
CA2564709 rs770378766 |
706 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA2564710 rs776253180 |
707 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2564713 rs377351705 |
708 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM202798 CA2564712 rs377351705 |
708 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762852923 CA2564714 |
709 | S>F | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UH90
2 GO annotations of cellular component
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| zinc ion binding | Binding to a zinc ion (Zn). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P62932 | Fbxo40 | F-box only protein 40 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKARRSPPG | HHRHCEGCFN | RHCHIPVEPN | TSCLVISCHL | LCGATFHMCK | EAEHQLLCPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EQVPCLNSEY | GCPLSMSRHK | LAKHLQVCPA | SVVCCSMEWN | RWPNVDSETT | LHENIMKETP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEECLDTALA | LQDQKVLFRS | LKMVELFPET | REATEEEPTM | NGETSVEEMG | GAVGGVDIGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VPHGLSATNG | EMAELSQEER | EVLAKTKEGM | DLVKFGQWEN | IFSKEHAASA | LTNSSASCES |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KNKNDSEKEQ | ISSGHNMVEG | EGAPKKKEPQ | ENQKQQDVRT | AMETTGLAPW | QDGVLERLKT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVDAKDYNMY | LVHNGRMLIH | FGQMPACTPK | ERDFVYGKLE | AQEVKTVYTF | KVPVSYCGKR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ARLGDAMLSC | KPSEHKAVDT | SDLGITVEDL | PKSDLIKTTL | QCALERELKG | HVISESRSID |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLFMDFATQT | YNFEPEQFSS | GTVLADLTAA | TPGGLHVELH | SECVTRRHNK | SSSAFTFTCN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KFFRRDEFPL | HFKNVHTDIQ | SCLNGWFQHR | CPLAYLGCTF | VQNHFRPPGQ | KAKVIYSQEL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KTFAIKPEVA | PELSEGRKNN | HLLGHGGKSQ | NSLTSLPLEI | LKYIAGFLDS | VSLAQLSQVS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLMRNICATL | LQERGMVLLQ | WKKKRYSHGG | TSWRVHREIW | QFSSLFSKIK | SWEFNEVTSM |
| 670 | 680 | 690 | 700 | ||
| SEHLKSCPFN | IVEHKTDPIL | LTSMCQPREQ | ARESLVSTFR | IRPRGRYVS |