O60306
PR
Gene name |
AQR (KIAA0560) |
Protein name |
RNA helicase aquarius |
Names |
Intron-binding protein of 160 kDa, IBP160 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9716 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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
19 structures for O60306
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4PJ3 | X-ray | 230 A | A | 19-1485 | PDB |
| 5MQF | EM | 590 A | U | 1-1485 | PDB |
| 5XJC | EM | 360 A | Q | 1-1485 | PDB |
| 5YZG | EM | 410 A | Q | 1-1485 | PDB |
| 5Z56 | EM | 510 A | Q | 1-1485 | PDB |
| 5Z57 | EM | 650 A | Q | 1-1485 | PDB |
| 6FF7 | EM | 450 A | U | 1-1485 | PDB |
| 6ICZ | EM | 300 A | Q | 1-1485 | PDB |
| 6ID0 | EM | 290 A | Q | 1-1485 | PDB |
| 6ID1 | EM | 286 A | Q | 1-1485 | PDB |
| 6QDV | EM | 330 A | U | 1-1485 | PDB |
| 7A5P | EM | 500 A | U | 1-1485 | PDB |
| 7ABI | EM | 800 A | U | 1-1485 | PDB |
| 7W59 | EM | 360 A | Q | 1-1485 | PDB |
| 7W5A | EM | 360 A | Q | 1-1485 | PDB |
| 7W5B | EM | 430 A | Q | 1-1485 | PDB |
| 8C6J | EM | 280 A | U | 1-1485 | PDB |
| 8CH6 | EM | 590 A | y | 1-1485 | PDB |
| AF-O60306-F1 | Predicted | AlphaFoldDB |
866 variants for O60306
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455416029 CA391661663 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770208594 CA7467980 |
3 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA268704827 rs918280700 |
4 | P>H | No |
ClinGen Ensembl |
|
|
CA7467979 rs748514097 |
4 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391661642 rs1234557058 |
6 | Q>L | No |
ClinGen gnomAD |
|
|
CA391661629 rs1272750534 |
8 | K>T | No |
ClinGen gnomAD |
|
|
CA7467976 rs369399646 |
9 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391661608 rs1232594531 |
11 | V>E | No |
ClinGen gnomAD |
|
|
CA391661610 rs1303179049 |
11 | V>L | No |
ClinGen gnomAD |
|
|
CA7467975 rs780218820 |
12 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 16 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757498498 CA7467971 |
17 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1395341315 CA391661557 |
19 | N>K | No |
ClinGen gnomAD |
|
|
rs941000415 CA268704774 |
19 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1293935496 CA391661514 |
25 | Q>H | No |
ClinGen TOPMed |
|
|
CA391661517 rs1595369611 |
25 | Q>R | No |
ClinGen Ensembl |
|
|
rs1373797504 CA391660138 |
27 | A>S | No |
ClinGen gnomAD |
|
|
CA391659996 rs1468396276 |
35 | I>V | No |
ClinGen gnomAD |
|
|
rs1265907466 CA391659972 COSM1372532 |
36 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747906891 CA7467931 |
37 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1481330812 CA391659937 |
38 | K>I | No |
ClinGen gnomAD |
|
|
CA268700636 rs761860017 |
39 | S>T | No |
ClinGen TOPMed |
|
|
rs1251520553 CA391659914 |
40 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391659874 rs1227284138 |
43 | I>V | No |
ClinGen gnomAD |
|
|
CA7467930 rs780989623 |
44 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1305403074 CA391659856 |
44 | K>T | No |
ClinGen gnomAD |
|
|
CA7467915 rs766635227 |
48 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467916 COSM960924 rs774986360 |
48 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7467914 rs763132026 |
49 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391658681 rs1254322261 |
54 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7467912 rs528870225 |
55 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7467911 rs138495597 |
56 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391656456 rs765328696 |
58 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1316790 rs1477342002 CA391656432 |
60 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7467891 rs761989667 |
61 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391656371 rs1235406906 |
64 | I>V | No |
ClinGen gnomAD |
|
|
CA391656270 rs1403832938 |
68 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467876 rs750919658 |
70 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761944134 CA7467874 |
72 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA391654626 rs1220850334 |
75 | N>S | No |
ClinGen gnomAD |
|
|
rs755960046 CA268690284 |
77 | L>V | No |
ClinGen Ensembl |
|
|
CA7467872 rs764311051 |
79 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275365278 CA391654520 |
79 | M>R | No |
ClinGen gnomAD |
|
|
rs753845641 CA7467873 |
79 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163968503 CA391654443 |
81 | Y>C | No |
ClinGen gnomAD |
|
|
rs1441464776 CA391654395 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs981059662 CA268690276 |
86 | S>T | No |
ClinGen TOPMed |
|
|
CA7467870 rs775308006 |
87 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996493181 CA268690265 |
90 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391654129 rs1372292964 |
90 | Y>H | No |
ClinGen gnomAD |
|
|
CA7467868 rs369222026 |
92 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA268690257 rs745612294 |
93 | S>A | No |
ClinGen Ensembl |
|
|
rs774341792 CA7467867 |
94 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467865 rs371872237 |
96 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391653865 rs1166429040 |
97 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA391653877 rs1440719240 |
97 | M>K | No |
ClinGen gnomAD |
|
|
rs777371947 CA7467864 |
97 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA391653733 rs1237911087 |
101 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268690237 rs753980201 |
106 | V>M | No |
ClinGen Ensembl |
|
|
rs1485730206 CA391653451 |
107 | P>L | No |
ClinGen TOPMed |
|
|
CA7467863 rs769600581 |
108 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483768768 CA391651809 |
111 | I>V | No |
ClinGen gnomAD |
|
|
CA7467843 rs772886027 |
114 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391651690 rs769402240 |
115 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1269335325 CA391651684 |
115 | K>N | No |
ClinGen gnomAD |
|
|
rs1208504154 CA391651707 |
115 | K>Q | No |
ClinGen gnomAD |
|
|
CA7467842 rs769402240 |
115 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA391651672 rs1228399427 |
116 | P>R | No |
ClinGen gnomAD |
|
|
rs929178019 CA268688464 |
117 | D>E | No |
ClinGen Ensembl |
|
|
CA391651656 rs1299879327 |
117 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286047286 CA391651603 |
118 | H>Q | No |
ClinGen gnomAD |
|
|
CA391651619 rs1327938937 |
118 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs747856432 CA391651568 |
119 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391651556 rs780893253 |
120 | P>S | Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7467840 rs780893253 |
120 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs768126079 CA7467839 |
122 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA391651482 rs746256626 |
122 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346830098 TCGA novel CA391651461 |
123 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA391651431 rs1322775933 |
125 | H>L | No |
ClinGen gnomAD |
|
|
CA391651415 rs1159911441 |
126 | I>V | No |
ClinGen gnomAD |
|
|
CA391651363 rs199505122 |
129 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7467836 rs757824726 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7467835 rs199505122 |
129 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391651340 rs1180422700 |
132 | A>P | No |
ClinGen gnomAD |
|
|
rs1300314345 CA391651320 |
133 | E>G | No |
ClinGen gnomAD |
|
|
rs199698642 CA7467833 |
139 | S>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA7467832 rs374340226 |
141 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767797874 CA391651200 |
141 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268688388 rs566463318 |
142 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464026109 CA391651182 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs928685073 CA268688387 |
144 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391651173 rs1246377830 |
145 | V>D | No |
ClinGen gnomAD |
|
|
rs755109832 CA391651164 |
147 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA391651159 rs1420463816 |
148 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA391651153 rs1162587566 |
149 | F>L | No |
ClinGen TOPMed |
|
|
CA268688386 rs980589387 COSM185815 |
150 | L>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 150 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467829 rs751404433 |
152 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs766053687 CA7467828 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1482917169 CA391650779 |
160 | D>E | No |
ClinGen gnomAD |
|
|
rs776826589 CA391650764 |
163 | R>* | No |
ClinGen gnomAD |
|
|
rs776826589 CA268687077 |
163 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3754276 CA268687076 rs376460301 |
163 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA7467741 rs116447981 |
164 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391650760 rs1463243889 |
164 | S>R | No |
ClinGen TOPMed |
|
|
rs1344740462 CA391650717 |
170 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7467740 rs754478207 |
172 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370035629 CA7467739 |
173 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs878884818 CA268687053 |
176 | M>L | No |
ClinGen gnomAD |
|
|
rs1320868490 CA391650669 |
177 | G>S | No |
ClinGen gnomAD |
|
|
rs779575603 CA7467721 |
182 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750066587 CA7467719 |
187 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756553043 CA7467717 |
189 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467716 rs372425215 |
189 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201922911 CA7467714 |
191 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467715 rs368483413 |
191 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7467712 rs200295409 |
195 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763146665 CA7467711 |
201 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA391648990 rs1427764287 |
203 | N>H | No |
ClinGen TOPMed |
|
|
rs1171098213 CA391648969 |
203 | N>K | No |
ClinGen TOPMed |
|
|
CA7467710 rs773476613 |
205 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA391648913 rs1223370741 |
205 | E>K | No |
ClinGen gnomAD |
|
|
rs530272087 CA7467709 |
206 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467708 rs761606148 |
210 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA391648737 rs761606148 |
210 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7467707 rs776358199 |
211 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768611371 CA7467706 |
212 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750410565 CA7467692 |
215 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7467691 rs765464506 |
217 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765464506 CA268685189 |
217 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301587243 CA617198156 |
218 | E>Y | No |
ClinGen gnomAD |
|
|
rs1412040908 CA391648020 |
219 | R>W | No |
ClinGen gnomAD |
|
|
rs761980117 CA7467690 |
220 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391647934 rs1167731286 |
224 | Q>E | No |
ClinGen gnomAD |
|
|
CA268685183 rs964085166 |
226 | I>M | No |
ClinGen Ensembl |
|
|
rs760585692 CA7467687 |
235 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA391647709 rs1433339020 |
237 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391647700 rs1197894050 |
238 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA391647706 rs1197894050 |
238 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7467661 rs749017833 |
241 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA391646526 rs1237324448 |
241 | P>S | No |
ClinGen gnomAD |
|
|
CA7467660 rs773006994 |
243 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7467659 rs769510347 |
244 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1404561093 CA391646470 |
245 | D>V | No |
ClinGen gnomAD |
|
|
CA391646462 rs1388699919 |
246 | K>E | No |
ClinGen TOPMed |
|
|
rs1447341644 CA391646458 |
246 | K>T | No |
ClinGen TOPMed |
|
|
rs955218999 CA268679547 |
254 | I>V | No |
ClinGen gnomAD |
|
|
CA268679541 rs780236849 |
256 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467656 rs780236849 |
256 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746337676 CA7467654 |
257 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758980359 CA7467655 |
257 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA391646272 rs1443870193 |
259 | D>E | No |
ClinGen gnomAD |
|
|
rs114730502 CA7467653 |
260 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7467651 rs369944363 |
261 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA268678674 rs867368806 |
262 | A>S | No |
ClinGen Ensembl |
|
|
CA391645037 rs1295766253 |
264 | L>P | No |
ClinGen gnomAD |
|
|
rs372319866 CA7467627 |
268 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467628 rs372319866 |
268 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969814605 CA268678664 |
271 | N>S | No |
ClinGen gnomAD |
|
|
CA391644928 rs1566992056 |
272 | T>I | No |
ClinGen Ensembl |
|
|
CA7467625 rs751344532 |
273 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA391644898 rs1170292751 |
275 | D>G | No |
ClinGen gnomAD |
|
|
CA7467624 rs368726033 |
276 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761582408 CA391644854 |
278 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7467621 rs764627319 |
278 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1348741497 CA391644836 |
280 | L>Q | No |
ClinGen gnomAD |
|
|
CA391644829 rs1199034034 |
281 | V>I | No |
ClinGen gnomAD |
|
|
rs1254357230 CA391644809 |
282 | H>Q | No |
ClinGen gnomAD |
|
|
CA7467619 rs201765276 |
282 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7467618 rs768287160 |
285 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437690101 CA391644756 |
287 | N>D | No |
ClinGen gnomAD |
|
|
rs200770739 CA268678634 |
287 | N>S | No |
ClinGen Ensembl |
|
|
CA7467617 rs759907394 COSM223745 |
288 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1021439237 CA268678614 |
290 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1021439237 CA268678619 |
290 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201774135 CA7467616 |
290 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391644720 rs201774135 |
290 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391644638 rs1380362896 |
296 | H>R | No |
ClinGen TOPMed |
|
|
rs777968831 CA7467613 |
296 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA391644608 rs1398095631 |
298 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA7467595 rs771273270 |
303 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773599002 CA7467593 |
304 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs770282822 CA7467592 |
305 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770282822 CA391644184 |
305 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA391644125 rs1262101964 |
306 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176225905 CA391643728 |
317 | T>I | No |
ClinGen TOPMed |
|
|
rs953016939 CA268677760 |
318 | G>R | No |
ClinGen Ensembl |
|
|
CA391643594 rs769036121 |
324 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7467589 rs769036121 |
324 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7467588 rs747210580 |
328 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA391643422 rs1450512437 |
329 | I>T | No |
ClinGen gnomAD |
|
|
rs1367487064 CA391643404 |
330 | H>D | No |
ClinGen gnomAD |
|
|
rs1470026683 CA391643362 |
331 | Y>C | No |
ClinGen TOPMed |
|
|
CA7467587 rs568716580 |
331 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758263003 CA7467586 |
336 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268677744 rs758263003 |
336 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 338 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467571 rs776620527 |
339 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs747300639 CA7467569 |
340 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs747300639 CA391642071 |
340 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1595799884 CA391642063 |
341 | A>S | No |
ClinGen Ensembl |
|
|
CA7467568 rs775857454 |
341 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs370610688 CA7467567 |
343 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745671670 CA7467566 |
343 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1226772286 CA391642013 |
344 | H>Y | No |
ClinGen gnomAD |
|
|
rs777333533 CA7467562 |
349 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7467563 rs200958717 |
349 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1393568691 CA391641866 |
350 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7467561 COSM268109 rs755628186 |
351 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA268676434 rs899581261 |
352 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs899581261 CA391641827 |
352 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA268676427 rs867068696 |
352 | A>V | No |
ClinGen TOPMed |
|
|
rs1176707713 CA391641740 |
355 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7467559 rs767183682 |
355 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767183682 CA391641730 |
355 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754623254 CA7467558 |
357 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750789474 CA7467557 |
358 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467555 rs765609219 |
361 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762281906 CA7467554 |
362 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391641570 rs1420718131 |
362 | R>W | No |
ClinGen gnomAD |
|
|
rs1272956242 CA391641537 |
363 | E>G | No |
ClinGen TOPMed |
|
|
CA7467552 rs764626387 |
363 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1595799838 CA391641522 |
364 | S>A | No |
ClinGen Ensembl |
|
|
rs1341973936 CA391641520 |
364 | S>Y | No |
ClinGen TOPMed |
|
|
CA391641489 rs1265031571 |
365 | L>F | No |
ClinGen gnomAD |
|
|
CA7467551 rs760849016 |
368 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931190497 CA268676403 |
370 | G>R | No |
ClinGen TOPMed |
|
|
rs776381365 CA268676398 |
371 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 374 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370948332 CA7467527 |
376 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7467528 rs757643136 |
376 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7467524 rs202099888 |
380 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202099888 CA7467523 |
380 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443965779 CA391640187 |
381 | A>S | No |
ClinGen gnomAD |
|
|
CA391640184 rs1330282169 |
381 | A>V | No |
ClinGen TOPMed |
|
|
rs759745129 CA7467522 |
382 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 384 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467521 rs374634573 |
385 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467520 rs555519952 |
387 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1305811860 CA391640105 |
388 | P>T | No |
ClinGen TOPMed |
|
|
rs536871974 CA391640097 |
389 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7467519 rs536871974 |
389 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772955440 CA391640066 |
392 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772955440 CA7467518 |
392 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467517 rs769767038 |
395 | D>E | No |
ClinGen ExAC |
|
|
rs1245833615 CA391640013 |
395 | D>G | No |
ClinGen gnomAD |
|
|
CA391639999 rs1275422193 |
396 | T>R | No |
ClinGen TOPMed |
|
|
CA391639973 rs1208575154 |
398 | F>L | No |
ClinGen TOPMed |
|
|
rs780734524 CA7467514 |
398 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467513 rs768205169 |
399 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs568982096 CA7467512 |
400 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 400 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467511 rs779768090 |
401 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7467496 rs776552318 |
409 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA391639477 rs1347018049 |
410 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7467494 rs775926117 |
410 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268671694 rs775926117 |
410 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348032319 CA391639460 |
412 | E>D | No |
ClinGen gnomAD |
|
|
rs187336933 CA7467493 |
412 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7467492 rs373166278 |
413 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745502901 CA7467491 |
413 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA391639455 rs756553023 |
414 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748467841 CA7467488 |
414 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467485 rs751703686 |
417 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7467484 rs201701152 |
419 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391639393 rs1437782583 |
423 | Q>E | No |
ClinGen gnomAD |
|
|
rs750635732 CA7467480 |
423 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341828395 CA391639381 |
424 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 425 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761608110 CA7467478 |
427 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA268671636 rs1006413192 |
429 | T>S | No |
ClinGen TOPMed |
|
|
rs376025287 CA7467475 |
441 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 443 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775114199 CA7467474 |
444 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1400549179 CA391638757 |
449 | C>F | No |
ClinGen gnomAD |
|
|
CA391638749 rs1378976832 |
450 | L>F | No |
ClinGen gnomAD |
|
|
rs1166064235 CA391638738 |
451 | A>S | No |
ClinGen gnomAD |
|
|
rs1385264787 CA391638729 |
452 | L>V | No |
ClinGen gnomAD |
|
|
CA7467443 rs201358907 |
453 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201358907 CA7467442 |
453 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467441 rs748874058 |
456 | N>D | No |
ClinGen ExAC |
|
|
rs773663422 CA268669974 |
457 | L>V | No |
ClinGen Ensembl |
|
|
CA391638491 rs1283659495 |
472 | L>V | No |
ClinGen gnomAD |
|
|
rs768894484 CA7467439 |
474 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7467438 rs747328349 |
474 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879477579 CA268669940 |
482 | R>H | No |
ClinGen Ensembl |
|
|
CA7467432 rs777985103 |
485 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs757524921 CA7467433 |
485 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA268669927 rs973320098 |
488 | S>G | No |
ClinGen TOPMed |
|
|
CA391638239 rs1163456817 |
492 | M>T | No |
ClinGen gnomAD |
|
|
CA391638244 rs1385169135 |
492 | M>V | No |
ClinGen gnomAD |
|
|
rs752486046 CA7467429 |
494 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391638215 rs1421607783 |
494 | P>S | No |
ClinGen gnomAD |
|
|
rs749331372 CA7467415 |
499 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391638120 rs1224484730 |
500 | G>S | No |
ClinGen gnomAD |
|
|
CA268667595 rs868802825 |
500 | G>V | No |
ClinGen Ensembl |
|
|
CA268667584 rs777879419 |
501 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777879419 CA7467414 |
501 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331431493 CA391638102 |
503 | V>A | No |
ClinGen gnomAD |
|
|
CA7467411 rs781109143 |
503 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755020367 CA7467410 |
504 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467408 rs766356528 |
510 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030467232 CA268667568 |
514 | I>T | No |
ClinGen gnomAD |
|
|
CA7467407 rs762386226 |
514 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173715454 CA391638024 |
515 | V>A | No |
ClinGen gnomAD |
|
|
CA7467406 rs749903221 |
516 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251245557 CA391638010 |
517 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 519 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467403 rs775882659 |
520 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467401 rs760102012 |
524 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs749357429 CA7467399 |
527 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467397 rs773309612 |
527 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749357429 CA7467398 |
527 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 530 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391637909 rs1318033551 |
533 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391637905 rs1309230553 |
533 | T>I | No |
ClinGen gnomAD |
|
|
CA268667557 rs1006047053 |
534 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM960915 CA7467396 rs769956783 |
534 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA391637899 rs1373957041 |
535 | V>I | No |
ClinGen gnomAD |
|
|
rs1338155635 CA391637890 |
536 | R>L | No |
ClinGen gnomAD |
|
|
CA268667555 rs201334346 |
543 | L>P | No |
ClinGen 1000Genomes |
|
|
CA391637847 rs1376126108 |
543 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1300864887 CA391637839 |
544 | N>S | No |
ClinGen gnomAD |
|
|
rs754821086 CA7467393 |
547 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA391637813 rs1326747745 |
548 | H>Y | No |
ClinGen gnomAD |
|
|
CA391637766 rs1184288764 |
554 | E>K | No |
ClinGen gnomAD |
|
|
CA268666077 rs1019789864 |
557 | R>H | No |
ClinGen gnomAD |
|
|
rs1429941221 CA391637523 |
566 | T>A | No |
ClinGen TOPMed |
|
|
CA268666035 rs377699708 COSM3744570 |
567 | V>I | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs573016803 CA7467377 |
568 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7467376 COSM960914 rs777010010 |
568 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777010010 CA391637501 |
568 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595793130 CA391637496 |
569 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 573 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746834702 CA391637431 |
575 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746834702 CA7467374 |
575 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372662315 CA7467373 |
575 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467372 rs758318897 |
578 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 578 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778354785 CA7467370 |
579 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467371 rs778354785 |
579 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391637381 COSM1517074 rs1355094006 |
579 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1394579560 CA391637373 |
580 | R>K | No |
ClinGen TOPMed |
|
|
rs1340761052 CA391637374 |
580 | R>W | No |
ClinGen gnomAD |
|
|
CA268666012 rs1026798187 |
581 | R>S | No |
ClinGen Ensembl |
|
|
CA7467367 rs763766740 |
582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467368 rs753295936 |
582 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA391637329 rs1324172263 |
584 | I>T | No |
ClinGen gnomAD |
|
|
rs1248227237 CA391637332 |
584 | I>V | No |
ClinGen TOPMed |
|
|
CA391637302 rs1555424503 |
586 | Q>H | No |
ClinGen Ensembl |
|
|
rs755730420 CA7467366 |
587 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA268665996 rs971648007 |
588 | G>C | No |
ClinGen Ensembl |
|
|
rs1014772116 CA268665991 |
588 | G>V | No |
ClinGen Ensembl |
|
|
COSM389150 CA7467365 rs751968564 |
590 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA391637262 rs1169736030 |
591 | Y>F | No |
ClinGen gnomAD |
|
|
CA7467364 rs368977117 |
594 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs77391149 CA268665954 |
595 | C>W | No |
ClinGen Ensembl |
|
|
CA268665949 rs75634603 |
596 | E>G | No |
ClinGen Ensembl |
|
|
CA391637125 rs1198733596 |
603 | D>A | No |
ClinGen gnomAD |
|
|
rs373459371 CA7467361 |
606 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467360 COSM960913 rs762010505 |
606 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 607 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467359 rs776816911 |
608 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595793069 CA391637071 |
609 | E>K | No |
ClinGen Ensembl |
|
|
CA268665874 rs769044082 |
610 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391661459 rs1310437647 |
617 | N>S | No |
ClinGen Ensembl |
|
|
CA391661453 rs1409403976 |
618 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 627 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770901534 CA7467333 |
627 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1160163138 CA391661394 |
627 | V>M | No |
ClinGen TOPMed |
|
|
COSM3361354 CA391661385 rs1566986300 |
628 | F>S | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA7467332 rs749208057 |
629 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 629 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 634 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989210447 CA268705266 |
635 | Q>E | No |
ClinGen TOPMed |
|
|
CA7467330 rs747549614 |
636 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7467331 rs777327818 |
636 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 637 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467328 rs780915951 |
639 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391661305 rs1240729020 |
639 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA391661291 rs750844019 |
641 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467326 rs750844019 |
641 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467325 rs757899555 |
642 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757899555 CA7467324 |
642 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879241725 CA268705170 |
646 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1227458524 CA391661258 |
646 | A>V | No |
ClinGen TOPMed |
|
|
rs1283861524 CA391661247 |
648 | D>Y | No |
ClinGen gnomAD |
|
|
rs754393863 CA7467323 |
650 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391661219 rs1347267708 |
652 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391661196 rs1230461038 |
655 | I>L | No |
ClinGen TOPMed |
|
|
rs1193884998 CA391661194 |
655 | I>T | No |
ClinGen gnomAD |
|
|
CA391661198 rs1230461038 |
655 | I>V | No |
ClinGen TOPMed |
|
|
CA7467321 rs371832322 |
657 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537292050 COSM1183308 CA268702227 |
668 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA391660919 rs1595791347 |
671 | E>K | No |
ClinGen Ensembl |
|
|
rs756545951 CA7467304 |
674 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467305 rs371432757 |
674 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7467303 rs752870203 |
675 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343663155 CA391660749 |
684 | P>S | No |
ClinGen gnomAD |
|
|
CA391660725 rs1387800671 |
685 | D>G | No |
ClinGen gnomAD |
|
|
CA7467300 rs529368536 |
685 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762754535 COSM960911 CA7467298 |
689 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA268702086 rs866269982 |
691 | I>F | No |
ClinGen Ensembl |
|
|
rs1489420815 CA391660627 |
692 | L>* | No |
ClinGen TOPMed |
|
|
rs761638000 CA391660566 |
697 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761638000 CA7467295 |
697 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 701 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910719982 CA268702057 |
701 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391660527 rs1424498427 |
703 | S>A | No |
ClinGen TOPMed |
|
|
CA7467294 rs776265279 COSM259480 |
703 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA268702040 rs867489711 |
706 | P>S | No |
ClinGen Ensembl |
|
|
CA268702039 rs986709123 |
707 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7467293 rs768050340 |
707 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930874430 CA391660117 CA268702035 |
708 | Q>H | No |
ClinGen gnomAD |
|
|
CA7467290 rs771802210 |
719 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA268702023 rs971697511 |
721 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 725 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467287 rs756700935 |
730 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA391659843 rs1312112780 |
731 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA268701967 rs1020559014 |
734 | K>Q | No |
ClinGen TOPMed |
|
|
rs781673514 CA7467285 |
739 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7467284 rs550115631 |
740 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391659761 rs758591290 |
743 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7467281 rs758591290 |
743 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750272059 CA7467280 |
744 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs367937960 CA7467278 |
746 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764036877 COSM226755 CA7467276 |
746 | P>L | pancreas skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs367937960 CA7467277 |
746 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 747 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488895572 CA391659396 |
749 | I>L | No |
ClinGen gnomAD |
|
|
rs1321512349 CA391659383 |
750 | T>S | No |
ClinGen gnomAD |
|
|
CA7467256 rs752313071 |
752 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370501493 CA7467255 |
753 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467254 rs370501493 CA7467253 |
753 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA268699375 rs952783704 |
755 | S>N | No |
ClinGen TOPMed |
|
|
CA268699377 rs542820211 |
755 | S>R | No |
ClinGen Ensembl |
|
|
rs770565216 CA7467252 |
757 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 759 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391659277 rs1339513296 |
759 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 759 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215224254 CA391659268 |
760 | K>E | No |
ClinGen gnomAD |
|
|
rs762111962 CA7467251 |
761 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs769204156 CA7467249 |
762 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs200307145 CA391659217 |
763 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200307145 CA7467248 |
763 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780179363 CA391659205 |
764 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780179363 CA7467247 |
764 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1202780167 CA391659194 |
765 | D>E | No |
ClinGen TOPMed |
|
|
CA7467245 rs369405800 |
765 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 765 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467244 rs779025379 |
765 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 766 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173243389 CA391659161 |
768 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757462647 CA7467243 |
768 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769560436 CA268699291 |
768 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7467241 rs745451369 |
772 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191604774 CA391659079 |
774 | A>G | No |
ClinGen gnomAD |
|
|
CA391659060 rs1453848824 |
776 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs930275995 CA391659057 |
776 | T>I | No |
ClinGen gnomAD |
|
|
rs930275995 CA268699254 |
776 | T>N | No |
ClinGen gnomAD |
|
|
CA391659061 rs1453848824 |
776 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA268699248 rs781633908 |
778 | I>T | No |
ClinGen Ensembl |
|
|
CA7467237 rs540850704 |
783 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1449799529 CA391658963 |
784 | I>T | No |
ClinGen TOPMed |
|
|
CA7467236 rs573223594 |
784 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1296046959 CA391658942 |
786 | N>Y | No |
ClinGen TOPMed |
|
|
CA391658909 rs1277340493 |
788 | G>D | No |
ClinGen gnomAD |
|
|
CA391658896 rs1332825631 |
789 | P>H | No |
ClinGen gnomAD |
|
|
CA391658899 rs1332825631 |
789 | P>L | No |
ClinGen gnomAD |
|
|
rs748176390 CA268699188 |
789 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 791 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467234 rs765985441 |
792 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7467232 rs776921302 |
793 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1173044213 CA391658805 |
795 | P>S | No |
ClinGen gnomAD |
|
|
rs201758262 CA7467231 |
797 | R>C | Variant assessed as Somatic; 0.0001392 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7467230 rs760966520 |
797 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7467213 rs750099471 |
799 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7467212 rs369825498 |
799 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 800 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7467209 rs768054965 CA7467210 |
801 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 802 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760067619 CA7467208 |
803 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391658552 rs1241036911 |
804 | H>P | No |
ClinGen gnomAD |
|
|
CA391658554 rs1241036911 |
804 | H>R | No |
ClinGen gnomAD |
|
|
CA268698638 rs1035934752 |
808 | E>K | No |
ClinGen TOPMed |
|
|
rs774361031 CA7467207 |
810 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA268698622 rs986909757 |
811 | R>C | No |
ClinGen TOPMed |
|
|
CA7467206 rs771045397 |
811 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749268658 CA7467205 |
820 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA391657938 rs1156318326 |
824 | P>L | No |
ClinGen gnomAD |
|
|
rs1406735002 CA391657875 |
834 | V>G | No |
ClinGen gnomAD |
|
|
rs1163919447 CA391657806 |
844 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7467177 rs776637875 |
845 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs762110548 CA7467178 |
845 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7467175 rs746727884 |
847 | Q>* | No |
ClinGen ExAC |
|
|
CA7467174 rs780066558 |
848 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1595788793 CA391657747 |
853 | T>S | No |
ClinGen Ensembl |
|
|
rs1352573282 CA391657055 |
861 | Q>E | No |
ClinGen gnomAD |
|
|
rs1178081030 CA391656925 |
867 | M>I | No |
ClinGen gnomAD |
|
|
rs1220778750 CA391656922 |
868 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7467129 rs770815262 |
871 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391656807 rs1441763801 |
874 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377385189 CA268693355 |
874 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
| TCGA novel | 881 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195560982 CA391656654 |
884 | E>Q | No |
ClinGen gnomAD |
|
|
rs769540136 CA391656626 |
885 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 897 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310953427 CA391655650 |
899 | N>S | No |
ClinGen gnomAD |
|
|
rs1401794957 CA391655617 |
901 | V>F | No |
ClinGen gnomAD |
|
|
CA391655621 rs1401794957 |
901 | V>I | No |
ClinGen gnomAD |
|
|
CA391655590 rs1566982414 |
903 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 904 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158075610 CA391655571 COSM960908 |
904 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1451894692 CA391655526 |
906 | I>M | No |
ClinGen gnomAD |
|
|
CA391655494 rs1370484654 |
909 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 911 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391655438 rs1566982400 |
912 | V>A | No |
ClinGen Ensembl |
|
|
rs1025139495 CA268690767 |
914 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs761331012 CA7467105 |
914 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7467102 rs376525584 |
918 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467100 rs185280093 |
923 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749756143 CA7467099 |
925 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1360856681 CA391655229 |
927 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7467098 rs778277781 |
927 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467097 rs756169477 |
928 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391655187 rs1220320400 |
931 | T>A | No |
ClinGen gnomAD |
|
|
rs754611876 CA268690704 |
934 | Y>C | No |
ClinGen gnomAD |
|
|
CA391655162 rs1327025028 |
934 | Y>H | No |
ClinGen gnomAD |
|
|
CA391655120 rs752780404 |
937 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181128383 CA391655002 |
941 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1034277900 CA268689599 |
942 | S>A | No |
ClinGen Ensembl |
|
|
CA7467080 rs778172785 |
942 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA391654970 rs1333751482 |
943 | R>C | No |
ClinGen gnomAD |
|
|
CA391654968 rs1256597416 |
943 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA391654963 rs1410926976 |
944 | W>R | No |
ClinGen gnomAD |
|
|
CA391654920 rs1166623683 |
946 | E>A | No |
ClinGen gnomAD |
|
|
CA391654918 rs1166623683 |
946 | E>G | No |
ClinGen gnomAD |
|
|
CA7467079 rs770303267 |
947 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391654871 rs1480793385 |
948 | I>S | No |
ClinGen gnomAD |
|
|
rs878963911 CA268689575 |
948 | I>V | No |
ClinGen Ensembl |
|
|
rs1396299209 CA391654862 |
949 | S>N | No |
ClinGen gnomAD |
|
|
CA7467078 rs748224289 |
953 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1453415052 CA391654755 |
956 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1489476230 CA391654701 |
958 | L>V | No |
ClinGen gnomAD |
|
|
CA391654656 rs1420428303 |
959 | P>L | No |
ClinGen TOPMed |
|
|
CA7467075 rs751782513 |
961 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467074 rs764258489 |
962 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764258489 CA391654590 |
962 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467072 rs562439060 |
963 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761792584 CA391654529 |
965 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7467071 rs765130302 |
965 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs761792584 CA7467070 |
965 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs374443806 CA7467069 |
966 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7467067 rs372201719 |
967 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200434788 CA7467068 |
967 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7467066 rs775297416 |
968 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs200022337 CA7467065 |
971 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391654382 rs1287527681 |
972 | E>D | No |
ClinGen TOPMed |
|
|
rs763265151 CA7467064 |
976 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391654270 rs1209370257 |
977 | A>S | No |
ClinGen TOPMed |
|
|
rs1484137789 CA391654230 |
978 | P>S | No |
ClinGen TOPMed |
|
|
rs1173677805 CA391654216 |
979 | Q>E | No |
ClinGen gnomAD |
|
|
CA268689497 rs892127039 |
979 | Q>L | No |
ClinGen TOPMed |
|
|
CA391654160 rs1433610582 |
981 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773603368 CA7467063 |
984 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA391653994 rs1180678187 |
985 | R>T | No |
ClinGen TOPMed |
|
|
rs1178512030 CA391653969 |
986 | S>C | No |
ClinGen gnomAD |
|
|
rs1470318116 CA391653953 |
987 | Y>F | No |
ClinGen gnomAD |
|
|
rs1470318116 CA391653957 |
987 | Y>S | No |
ClinGen gnomAD |
|
|
rs1179480294 CA391653888 |
990 | D>A | No |
ClinGen gnomAD |
|
|
rs768733920 CA7467059 |
991 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777051927 CA7467060 |
991 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7467061 rs748680738 |
991 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747039708 CA7467058 |
992 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7467057 rs780288797 |
993 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs780288797 CA391653799 |
993 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1344280698 CA391653634 |
998 | F>Y | No |
ClinGen gnomAD |
|
|
CA7467055 rs565189904 |
999 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757209397 CA391653367 |
1005 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752832946 CA7467052 |
1006 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310942988 CA391653273 |
1009 | E>K | No |
ClinGen TOPMed |
|
|
rs1595785418 CA391652565 |
1012 | R>T | No |
ClinGen Ensembl |
|
|
rs868421709 CA268688144 |
1013 | A>S | No |
ClinGen Ensembl |
|
|
COSM259479 rs370660482 CA7467025 |
1018 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764635872 CA7467023 |
1022 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7467024 rs754173454 |
1022 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7467022 rs761158463 |
1023 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs775499380 CA7467021 |
1026 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391652410 rs1212255849 |
1032 | A>V | No |
ClinGen gnomAD |
|
|
CA7467020 rs772202124 |
1034 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs918268987 CA268688083 |
1035 | I>T | No |
ClinGen Ensembl |
|
|
rs774658319 CA7467018 |
1037 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1595785396 CA391652309 |
1041 | H>N | No |
ClinGen Ensembl |
|
|
rs749141492 CA7467016 |
1046 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7467014 rs769914752 |
1051 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1052 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595785376 CA391652131 |
1054 | F>L | No |
ClinGen Ensembl |
|
|
rs752967707 CA7466974 |
1058 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1333540156 CA391650471 |
1059 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1071 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs62006146 CA268683845 |
1073 | F>L | No |
ClinGen Ensembl |
|
|
rs755299180 CA7466950 |
1080 | N>D | No |
ClinGen ExAC |
|
|
rs1480647575 CA391649924 |
1082 | Q>K | No |
ClinGen gnomAD |
|
|
CA391649822 rs1166192194 |
1087 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA391649825 rs1166192194 |
1087 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1475151589 CA391649819 |
1087 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1090 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224701496 CA391649785 |
1090 | R>Q | No |
ClinGen gnomAD |
|
|
rs1284039953 CA391649745 |
1093 | M>T | No |
ClinGen TOPMed |
|
|
rs1429734254 CA391649702 |
1097 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1098 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765603694 CA7466945 |
1101 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767853291 CA268683360 |
1107 | M>T | No |
ClinGen Ensembl |
|
|
CA391649576 rs1463313726 |
1108 | A>T | No |
ClinGen gnomAD |
|
|
CA268683354 rs781455615 |
1112 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 1113 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7466942 rs763802425 |
1114 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1229558057 CA391649491 |
1115 | M>T | No |
ClinGen gnomAD |
|
|
CA268683345 rs975668238 |
1119 | L>F | No |
ClinGen TOPMed |
|
|
rs760461836 CA7466941 |
1122 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs775432905 CA7466940 COSM700032 |
1122 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA391649339 rs1448725068 |
1125 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7466939 rs200095121 |
1125 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA391649315 rs1397220501 |
1126 | V>G | No |
ClinGen gnomAD |
|
|
CA7466937 COSM50619 rs773831067 |
1126 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1297835929 CA391649285 |
1129 | P>A | No |
ClinGen gnomAD |
|
|
COSM1245274 rs1389064879 CA391649282 |
1129 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1367678411 CA391649240 |
1132 | D>G | No |
ClinGen gnomAD |
|
|
rs368010115 CA7466934 |
1132 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391649229 rs1419299084 |
1133 | L>I | No |
ClinGen TOPMed |
|
|
CA391649209 rs1566980022 |
1134 | D>H | No |
ClinGen Ensembl |
|
|
rs780745443 CA7466931 |
1140 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450779131 CA391649083 |
1141 | A>T | No |
ClinGen gnomAD |
|
|
rs1387225498 CA391649062 |
1141 | A>V | No |
ClinGen TOPMed |
|
|
rs1040306323 CA268682981 |
1146 | L>V | No |
ClinGen Ensembl |
|
|
rs1233829601 CA391648862 |
1147 | Y>H | No |
ClinGen gnomAD |
|
|
rs769456293 CA7466915 |
1150 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391648701 rs1566979877 |
1153 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 1154 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391648689 rs1335569180 |
1154 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1158 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268682963 rs891151533 |
1158 | P>S | No |
ClinGen Ensembl |
|
|
rs1489294380 CA391648534 |
1162 | L>H | No |
ClinGen gnomAD |
|
|
rs1489294380 CA391648529 |
1162 | L>R | No |
ClinGen gnomAD |
|
|
CA391648498 rs1313016218 |
1164 | P>A | No |
ClinGen gnomAD |
|
|
rs548864767 CA268682959 |
1167 | S>G | No |
ClinGen Ensembl |
|
|
rs373250842 CA7466909 |
1171 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA268682939 rs536852805 |
1172 | G>C | No |
ClinGen 1000Genomes |
|
|
CA391648298 rs1374274138 |
1175 | Y>C | No |
ClinGen TOPMed |
|
|
rs1221531849 CA391648272 |
1176 | D>G | No |
ClinGen gnomAD |
|
|
rs550781537 CA7466904 |
1180 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1182 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268682920 rs984045743 |
1187 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7466903 rs201488950 |
1189 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7466902 rs751470443 |
1192 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328833618 CA391647878 |
1195 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1356728659 CA391647821 |
1198 | Y>* | No |
ClinGen gnomAD |
|
|
CA7466900 rs762410262 |
1198 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1286859287 CA391647832 |
1198 | Y>N | No |
ClinGen gnomAD |
|
|
rs1293332236 CA391647809 |
1199 | Q>K | No |
ClinGen gnomAD |
|
|
rs1449055310 CA391647170 |
1203 | E>Q | No |
ClinGen gnomAD |
|
|
CA391647130 rs1595781757 |
1206 | Y>C | No |
ClinGen Ensembl |
|
|
rs776445762 CA7466879 |
1210 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1195770338 CA391647067 |
1212 | M>I | No |
ClinGen gnomAD |
|
|
rs763801725 CA7466878 |
1213 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA7466877 rs759862163 |
1214 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774760289 CA7466876 |
1215 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774760289 CA391647036 |
1215 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs200361319 CA7466875 |
1216 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7466874 rs749801453 |
1217 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1363720130 CA391647010 |
1218 | G>S | No |
ClinGen gnomAD |
|
|
rs773531382 CA7466873 |
1219 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1294892839 CA391646983 |
1220 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769883199 CA7466872 |
1222 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1224 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391646921 rs1367972655 |
1226 | I>V | No |
ClinGen gnomAD |
|
|
rs748182567 CA7466871 |
1231 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA391646857 rs1429143792 |
1232 | G>D | No |
ClinGen gnomAD |
|
|
rs781429047 CA7466870 |
1233 | Q>P | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 1238 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1239 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391646769 rs1477191820 |
1240 | I>V | No |
ClinGen TOPMed |
|
|
CA268675938 rs761324128 |
1242 | N>S | No |
ClinGen Ensembl |
|
|
rs765219132 CA7466864 |
1243 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1233918541 CA391646728 |
1243 | R>K | No |
ClinGen gnomAD |
|
|
CA391646720 rs1198187767 |
1244 | R>* | No |
ClinGen gnomAD |
|
|
CA7466862 rs753371333 |
1246 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1595781711 CA391646688 |
1247 | N>D | No |
ClinGen Ensembl |
|
|
CA7466861 rs763892403 |
1249 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391646631 rs1312473846 |
1251 | I>T | No |
ClinGen gnomAD |
|
|
CA391646613 rs1300292681 |
1252 | G>A | No |
ClinGen gnomAD |
|
|
rs760364146 CA7466860 |
1255 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595780825 CA391645787 |
1259 | T>A | No |
ClinGen Ensembl |
|
|
rs1320762713 CA391645586 |
1269 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1269 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391645557 rs1566978833 |
1270 | Y>C | No |
ClinGen Ensembl |
|
|
CA391645529 rs1389824516 |
1272 | L>I | No |
ClinGen gnomAD |
|
|
rs1257159494 CA391645500 |
1273 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1276 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391645439 rs1420710326 |
1278 | T>I | No |
ClinGen gnomAD |
|
|
rs1420710326 CA391645437 |
1278 | T>N | No |
ClinGen gnomAD |
|
|
rs1456078511 CA391645443 |
1278 | T>S | No |
ClinGen gnomAD |
|
|
CA7466842 rs755515230 |
1280 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391645302 rs1179745048 |
1285 | R>G | No |
ClinGen gnomAD |
|
|
CA391645299 rs1179745048 |
1285 | R>W | No |
ClinGen gnomAD |
|
|
rs1324701247 CA391644456 |
1288 | R>G | No |
ClinGen gnomAD |
|
|
CA7466820 rs752115325 COSM1183306 |
1288 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1293 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391644289 rs1259614506 |
1298 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1298 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391644167 rs375883396 |
1304 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7466817 rs750851775 |
1305 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391644113 rs1167505553 |
1307 | V>E | No |
ClinGen gnomAD |
|
|
CA7466816 rs765590062 |
1307 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1308 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391644076 rs1566978109 |
1309 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754365888 CA7466813 |
1310 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA7466812 rs764469607 |
1311 | Q>H | No |
ClinGen ExAC |
|
|
rs1450941485 CA391643940 |
1313 | C>S | No |
ClinGen gnomAD |
|
|
rs1197514933 CA391643868 |
1316 | L>P | No |
ClinGen gnomAD |
|
|
CA391643816 rs1483383904 |
1319 | A>V | No |
ClinGen gnomAD |
|
|
rs1230878476 CA391643735 |
1322 | Q>H | No |
ClinGen TOPMed |
|
|
CA391643635 rs1356976634 |
1326 | R>C | No |
ClinGen TOPMed |
|
|
CA268671478 rs888073425 |
1326 | R>H | No |
ClinGen TOPMed |
|
|
CA391643488 rs1275788726 |
1331 | H>Q | No |
ClinGen gnomAD |
|
|
rs763440066 CA7466809 |
1331 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049194354 CA268671462 |
1331 | H>Y | No |
ClinGen TOPMed |
|
|
rs774652926 CA7466807 |
1332 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466808 rs373136267 |
1332 | I>V | No |
ClinGen ESP ExAC |
|
|
rs749048254 CA7466805 |
1337 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7466806 rs770866184 |
1337 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1032677102 CA268671443 |
1339 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1403961824 COSM1245272 CA391643357 |
1339 | P>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7466802 rs555239193 |
1340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs555239193 CA268671442 |
1340 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1595779493 CA391643337 |
1340 | T>S | No |
ClinGen Ensembl |
|
|
rs999892425 CA268671431 |
1341 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746678116 CA7466799 |
1343 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA391643007 rs1380632580 |
1344 | N>H | No |
ClinGen gnomAD |
|
|
CA7466781 rs374409050 |
1344 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374409050 CA391643001 |
1344 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554554752 CA7466779 |
1345 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746483971 CA7466778 |
1347 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387647338 CA391642952 |
1348 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391642908 rs1407073525 |
1352 | V>A | No |
ClinGen gnomAD |
|
|
CA7466777 rs183049363 |
1353 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391642896 rs1414625856 |
1353 | Q>L | No |
ClinGen gnomAD |
|
|
CA391642897 rs1414625856 |
1353 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1354 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758025675 CA7466776 |
1356 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1357 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370025183 CA7466775 |
1359 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368002386 CA268669696 |
1368 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1246586921 CA391642698 |
1368 | M>T | No |
ClinGen gnomAD |
|
|
CA391642675 rs756436952 |
1370 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs756436952 CA7466773 |
1370 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201619100 CA391642662 |
1371 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201619100 CA7466772 |
1371 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1038054568 CA268669686 |
1373 | I>V | No |
ClinGen Ensembl |
|
|
CA268669679 rs939781373 |
1374 | Q>* | No |
ClinGen TOPMed |
|
|
rs1214469492 CA391642614 |
1375 | T>A | No |
ClinGen TOPMed |
|
|
CA7466771 rs768023344 |
1375 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7466770 rs755145206 |
1376 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA391642600 rs751663678 |
1376 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466769 rs751663678 |
1376 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466767 rs763259992 |
1377 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318374977 CA391642579 |
1378 | H>R | No |
ClinGen gnomAD |
|
|
rs1595778646 CA391642552 |
1380 | H>R | No |
ClinGen Ensembl |
|
|
rs908344335 CA268669661 |
1381 | Q>K | No |
ClinGen Ensembl |
|
|
rs1425895024 CA391641880 |
1385 | Q>R | No |
ClinGen TOPMed |
|
|
rs1368897251 CA391641846 |
1389 | A>T | No |
ClinGen gnomAD |
|
|
rs1434059691 CA391641813 |
1390 | M>I | No |
ClinGen gnomAD |
|
|
CA391641818 rs1178544896 |
1390 | M>T | No |
ClinGen gnomAD |
|
|
rs758444517 CA391641733 |
1394 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758444517 CA7466740 |
1394 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1395 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391641672 rs1205309876 |
1396 | E>D | No |
ClinGen gnomAD |
|
|
rs765458983 CA7466738 |
1398 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1211799552 CA391641636 |
1398 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1401 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270999435 CA391641587 |
1401 | E>Q | No |
ClinGen TOPMed |
|
|
CA7466737 rs761554059 |
1402 | T>A | No |
ClinGen ExAC |
|
|
rs1032821885 CA268667669 |
1408 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7466736 rs753645474 |
1408 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466735 rs764079226 |
1411 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391641379 rs1021795969 |
1412 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA268667654 rs1021795969 |
1412 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760602707 CA7466734 |
1414 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466733 rs368732448 |
1415 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7466731 rs759041598 |
1420 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7466732 rs771586153 |
1420 | S>R | No |
ClinGen ExAC |
|
|
CA391641251 rs1182126625 |
1421 | P>L | No |
ClinGen gnomAD |
|
|
CA7466730 rs773911381 |
1422 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA7466729 rs373744153 |
1423 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595777634 CA391641241 |
1423 | D>G | No |
ClinGen Ensembl |
|
|
CA391641227 rs1183224817 |
1425 | S>I | No |
ClinGen gnomAD |
|
|
CA7466727 rs769072924 |
1427 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM470532 rs573724519 CA7466725 |
1427 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7466726 rs769072924 |
1427 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466723 rs200963145 |
1430 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391641162 rs1268611737 |
1430 | T>S | No |
ClinGen gnomAD |
|
|
rs750484796 CA7466722 |
1431 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391641137 rs555623203 |
1432 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555623203 CA7466721 |
1432 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1436 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757489039 CA7466720 |
1437 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391641054 rs1396797458 |
1437 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA391641064 rs757489039 |
1437 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190121355 CA7466719 |
1438 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391641048 rs1378786387 |
1438 | T>P | No |
ClinGen gnomAD |
|
|
rs763883158 CA7466718 |
1439 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466717 rs375985364 |
1439 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375985364 CA7466716 |
1439 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763883158 CA391641040 |
1439 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466714 rs759013380 |
1441 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466715 rs200002408 COSM3936725 |
1441 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA391640986 rs1361555295 |
1443 | G>E | No |
ClinGen gnomAD |
|
|
rs773895657 CA7466713 |
1444 | A>V | No |
ClinGen ExAC |
|
|
rs766011396 CA7466712 |
1448 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7466711 rs184384582 |
1448 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267282557 CA391640838 |
1455 | S>F | No |
ClinGen gnomAD |
|
|
rs1566977073 CA391640832 |
1456 | E>* | No |
ClinGen Ensembl |
|
|
CA7466707 rs776180525 |
1456 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772610524 CA7466706 |
1458 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391640807 rs772610524 |
1458 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466705 rs745994150 |
1462 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA391640757 rs1329149111 |
1462 | V>L | No |
ClinGen gnomAD |
|
|
CA391640740 rs779048059 |
1463 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391640742 rs779048059 |
1463 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466704 rs779048059 |
1463 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749528224 CA7466702 |
1464 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7466699 rs752461923 |
1465 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755937407 CA7466700 |
1465 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1161269466 CA391640688 |
1467 | A>V | No |
ClinGen gnomAD |
|
|
CA7466697 rs61741130 |
1468 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868297929 CA268667476 |
1469 | A>T | No |
ClinGen Ensembl |
|
|
rs1192269276 CA391640641 |
1471 | A>P | No |
ClinGen gnomAD |
|
|
CA391640617 rs1426545536 |
1472 | N>K | No |
ClinGen gnomAD |
|
|
CA391640595 rs1159191284 |
1475 | Q>P | No |
ClinGen TOPMed |
|
|
CA391640590 rs1410281846 |
1476 | D>H | No |
ClinGen TOPMed |
|
|
rs765924707 CA7466694 |
1477 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1412941120 CA391640568 |
1478 | T>S | No |
ClinGen TOPMed |
|
|
rs192419915 CA7466693 |
1481 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391640476 rs1181635171 |
1485 | K>T | No |
ClinGen gnomAD |
|
|
CA7466690 rs369939720 |
1486 | K>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with O60306
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| U2-type catalytic step 2 spliceosome | A spliceosomal complex that contains the U2, U5 and U6 snRNPs bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the U2, U5 and U6 snRNPs. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5' RNA helicase activity | Unwinding of an RNA helix in the 3' to 5' direction, driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPAQPKKI | VAPTVSQINA | EFVTQLACKY | WAPHIKKKSP | FDIKVIEDIY | EKEIVKSRFA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IRKIMLLEFS | QYLENYLWMN | YSPEVSSKAY | LMSICCMVNE | KFRENVPAWE | IFKKKPDHFP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FFFKHILKAA | LAETDGEFSL | HEQTVLLLFL | DHCFNSLEVD | LIRSQVQQLI | SLPMWMGLQL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARLELELKKT | PKLRKFWNLI | KKNDEKMDPE | AREQAYQERR | FLSQLIQKFI | SVLKSVPLSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVTMDKVHYC | ERFIELMIDL | EALLPTRRWF | NTILDDSHLL | VHCYLSNLVR | REEDGHLFSQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLDMLKFYTG | FEINDQTGNA | LTENEMTTIH | YDRITSLQRA | AFAHFPELYD | FALSNVAEVD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRESLVKFFG | PLSSNTLHQV | ASYLCLLPTL | PKNEDTTFDK | EFLLELLVSR | HERRISQIQQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LNQMPLYPTE | KIIWDENIVP | TEYYSGEGCL | ALPKLNLQFL | TLHDYLLRNF | NLFRLESTYE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IRQDIEDSVS | RMKPWQSEYG | GVVFGGWARM | AQPIVAFTVV | EVAKPNIGEN | WPTRVRADVT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| INLNVRDHIK | DEWEGLRKHD | VCFLITVRPT | KPYGTKFDRR | RPFIEQVGLV | YVRGCEIQGM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LDDKGRVIED | GPEPRPNLRG | ESRTFRVFLD | PNQYQQDMTN | TIQNGAEDVY | ETFNIIMRRK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PKENNFKAVL | ETIRNLMNTD | CVVPDWLHDI | ILGYGDPSSA | HYSKMPNQIA | TLDFNDTFLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IEHLKASFPG | HNVKVTVEDP | ALQIPPFRIT | FPVRSGKGKK | RKDADVEDED | TEEAKTLIVE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PHVIPNRGPY | PYNQPKRNTI | QFTHTQIEAI | RAGMQPGLTM | VVGPPGTGKT | DVAVQIISNI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YHNFPEQRTL | IVTHSNQALN | QLFEKIMALD | IDERHLLRLG | HGEEELETEK | DFSRYGRVNY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VLARRIELLE | EVKRLQKSLG | VPGDASYTCE | TAGYFFLYQV | MSRWEEYISK | VKNKGSTLPD |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VTEVSTFFPF | HEYFANAPQP | IFKGRSYEED | MEIAEGCFRH | IKKIFTQLEE | FRASELLRSG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LDRSKYLLVK | EAKIIAMTCT | HAALKRHDLV | KLGFKYDNIL | MEEAAQILEI | ETFIPLLLQN |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PQDGFSRLKR | WIMIGDHHQL | PPVIKNMAFQ | KYSNMEQSLF | TRFVRVGVPT | VDLDAQGRAR |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ASLCNLYNWR | YKNLGNLPHV | QLLPEFSTAN | AGLLYDFQLI | NVEDFQGVGE | SEPNPYFYQN |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LGEAEYVVAL | FMYMCLLGYP | ADKISILTTY | NGQKHLIRDI | INRRCGNNPL | IGRPNKVTTV |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| DRFQGQQNDY | ILLSLVRTRA | VGHLRDVRRL | VVAMSRARLG | LYIFARVSLF | QNCFELTPAF |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| SQLTARPLHL | HIIPTEPFPT | TRKNGERPSH | EVQIIKNMPQ | MANFVYNMYM | HLIQTTHHYH |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QTLLQLPPAM | VEEGEEVQNQ | ETELETEEEA | MTVQADIIPS | PTDTSCRQET | PAFQTDTTPS |
| 1450 | 1460 | 1470 | 1480 | ||
| ETGATSTPEA | IPALSETTPT | VVGAVSAPAE | ANTPQDATSA | PEETK |