Q92540
PR
Gene name |
SMG7 |
Protein name |
Nonsense-mediated mRNA decay factor SMG7 |
Names |
SMG-7 homolog, hSMG-7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9887 |
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
2 structures for Q92540
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YA0 | X-ray | 255 A | A/B | 1-497 | PDB |
| AF-Q92540-F1 | Predicted | AlphaFoldDB |
747 variants for Q92540
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA343854779 rs1187330888 |
2 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs908527082 CA34280741 |
4 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343854813 rs1247018061 |
5 | S>C | No |
ClinGen TOPMed |
|
|
CA34280742 rs944142710 |
5 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA34280743 rs944142710 |
5 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343854829 rs1297052170 |
6 | A>P | No |
ClinGen TOPMed |
|
|
CA34280745 rs921126547 |
6 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1413732984 CA343854871 |
9 | L>F | No |
ClinGen gnomAD |
|
|
CA343854883 rs1293405361 |
10 | R>Q | No |
ClinGen gnomAD |
|
|
rs1426401806 CA343675088 |
11 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 15 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466721044 CA343675266 |
16 | K>R | No |
ClinGen gnomAD |
|
|
rs185963873 CA1283703 |
19 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1571920009 CA343675319 |
19 | M>V | No |
ClinGen Ensembl |
|
|
rs778204655 CA1283731 |
23 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894814617 CA33986566 |
25 | G>C | No |
ClinGen Ensembl |
|
|
CA1283732 rs747217177 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343676495 rs1238077715 |
26 | P>S | No |
ClinGen gnomAD |
|
|
CA343676521 rs1206390170 |
27 | A>S | No |
ClinGen gnomAD |
|
|
rs752388540 CA33986572 |
27 | A>V | No |
ClinGen Ensembl |
|
|
rs755901679 CA343676536 |
28 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343676542 CA33986592 rs1038139602 |
28 | E>D | No |
ClinGen gnomAD |
|
|
CA33986581 rs755901679 |
28 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1283733 rs1055226 |
29 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1485704297 CA343676581 |
31 | T>A | No |
ClinGen gnomAD |
|
|
CA343676589 rs1298750430 |
31 | T>I | No |
ClinGen TOPMed |
|
|
CA343676626 rs1347679701 |
33 | R>S | No |
ClinGen TOPMed |
|
|
rs910507887 CA33986612 |
35 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343676663 rs1381271792 |
37 | Q>K | No |
ClinGen gnomAD |
|
|
rs1558005642 CA343676698 |
38 | D>V | No |
ClinGen Ensembl |
|
|
CA33986624 rs1026467431 |
39 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1283736 rs770227109 |
40 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA33986647 rs140206970 |
41 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA343676760 rs1558005767 |
41 | Q>R | No |
ClinGen Ensembl |
|
|
CA343676797 rs1477053306 |
42 | K>R | No |
ClinGen TOPMed |
|
|
rs1448846306 COSM347947 CA343676838 |
43 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1302624431 CA343676849 |
44 | L>V | No |
ClinGen Ensembl |
|
|
rs1195117937 CA343676880 |
45 | V>L | No |
ClinGen TOPMed |
|
|
CA343676899 rs1223104099 |
46 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763350649 CA343676902 |
46 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763350649 CA1283738 |
46 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018232557 CA33986660 |
47 | D>N | No |
ClinGen gnomAD |
|
|
CA343677065 rs1348069150 |
51 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 60 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924147141 CA33987934 |
64 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1283778 rs755513773 |
68 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1283779 rs779430437 |
68 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748197628 CA33987957 |
71 | T>A | No |
ClinGen Ensembl |
|
|
rs143771079 CA33987975 |
76 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1169648862 CA343678446 |
78 | N>T | No |
ClinGen TOPMed |
|
|
rs867621076 CA33987976 |
79 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 81 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776202694 CA1283782 |
82 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475173575 CA343678549 |
82 | P>S | No |
ClinGen gnomAD |
|
|
CA1283784 rs769502347 |
83 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391258803 CA343678578 |
84 | R>G | No |
ClinGen gnomAD |
|
|
CA33987982 rs138777313 |
84 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA1283785 rs775168364 |
85 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283786 rs762503050 |
86 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343678770 rs1437679147 |
90 | N>D | No |
ClinGen TOPMed |
|
|
CA343678834 rs1344254445 |
92 | S>F | No |
ClinGen gnomAD |
|
|
CA343678836 rs531929654 |
93 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1283787 rs764174736 |
98 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA343678987 rs1299540764 |
98 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283790 rs767332168 |
102 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA33988076 rs918145998 |
104 | Q>R | No |
ClinGen Ensembl |
|
|
COSM1491845 rs761825268 CA1283808 COSM1491846 |
105 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343681841 rs1179543925 |
110 | C>F | No |
ClinGen gnomAD |
|
|
CA33993835 rs1037064128 |
119 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1433658623 CA343682098 |
120 | R>C | No |
ClinGen gnomAD |
|
|
rs754051143 CA1283813 |
120 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283814 rs759666348 |
122 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374677970 CA33993857 |
123 | S>P | No |
ClinGen ESP TOPMed |
|
|
CA33993861 rs1057326810 |
123 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA33993862 rs889907382 |
124 | S>F | No |
ClinGen Ensembl |
|
|
CA343682267 rs770022073 |
125 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311845203 CA343682346 |
129 | I>S | No |
ClinGen gnomAD |
|
|
CA343682344 rs1311845203 |
129 | I>T | No |
ClinGen gnomAD |
|
|
rs1369080859 CA343682362 |
130 | S>R | No |
ClinGen gnomAD |
|
|
rs752650779 CA1283816 |
131 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1283817 rs144712473 |
132 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1347198111 CA343682408 |
133 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs778091276 CA1283818 |
134 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33993906 rs1022655032 |
137 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1283821 rs763133534 |
137 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283823 rs141839587 |
138 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343682546 rs1356348247 |
139 | I>V | No |
ClinGen gnomAD |
|
|
rs768136479 CA1283824 |
140 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747573972 CA1283826 |
142 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA343682617 rs1166742006 CA343682616 |
143 | Q>H | No |
ClinGen gnomAD |
|
|
rs757826682 CA33993932 |
144 | S>A | No |
ClinGen TOPMed |
|
|
rs1400230980 CA343682626 |
144 | S>F | No |
ClinGen gnomAD |
|
|
CA1283827 rs772071649 |
145 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343682679 rs1311410476 |
147 | C>Y | No |
ClinGen TOPMed |
|
|
CA1283829 rs760506738 |
148 | S>Y | No |
ClinGen ExAC |
|
|
rs1386479573 CA343682851 |
156 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258767387 CA343683234 |
164 | Y>C | No |
ClinGen gnomAD |
|
|
CA343683274 rs1438220292 |
166 | N>Y | No |
ClinGen gnomAD |
|
|
CA1283852 rs745599943 |
170 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343683458 rs1359095261 |
173 | S>A | No |
ClinGen TOPMed |
|
|
rs1174498293 CA343683661 |
183 | P>S | No |
ClinGen TOPMed |
|
|
CA1283855 rs763159718 |
185 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1330144048 CA343683960 |
193 | A>G | No |
ClinGen TOPMed |
|
|
CA343683964 rs1220467396 |
194 | I>L | No |
ClinGen gnomAD |
|
|
CA343684050 rs1316629477 |
199 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1283871 rs769471064 |
199 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283872 rs775839905 |
200 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA343684213 rs1219729905 |
205 | T>A | No |
ClinGen gnomAD |
|
|
rs768934009 CA1283874 |
208 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283875 rs377471057 |
213 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1283876 rs761938637 |
214 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343684520 rs1388448665 |
218 | P>A | No |
ClinGen TOPMed |
|
|
CA1283879 rs761173198 |
231 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs766662859 CA1283880 |
231 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754161729 CA1283881 |
233 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1283904 rs200930565 |
237 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217467761 COSM1226871 CA343685150 |
239 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1283905 rs763774813 |
240 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1186729362 CA343685277 |
244 | W>C | No |
ClinGen gnomAD |
|
|
rs1237904538 CA343685322 |
246 | V>G | No |
ClinGen gnomAD |
|
|
rs1185282916 CA343685311 |
246 | V>I | No |
ClinGen TOPMed |
|
|
CA343685336 rs1173477991 |
247 | S>A | No |
ClinGen gnomAD |
|
|
rs766950124 CA1283908 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs143466724 CA1283911 |
252 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1283909 rs749882734 |
252 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143466724 CA1283910 |
252 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140030385 CA1283914 |
257 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748371837 CA1283915 |
258 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343685629 rs1376480566 |
260 | V>M | No |
ClinGen gnomAD |
|
|
rs1241107594 CA343685652 |
261 | Y>H | No |
ClinGen gnomAD |
|
|
rs1281396803 CA343686526 |
263 | S>T | No |
ClinGen gnomAD |
|
|
CA343686572 rs1558030892 |
267 | E>K | No |
ClinGen Ensembl |
|
|
rs772349852 CA1283916 |
268 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1244260865 CA343686604 |
269 | L>W | No |
ClinGen TOPMed |
|
|
rs1199871849 CA343686620 |
270 | S>R | No |
ClinGen gnomAD |
|
|
rs1279252937 CA343686643 |
273 | R>Q | No |
ClinGen gnomAD |
|
|
rs1237304405 CA343686722 |
277 | E>V | No |
ClinGen gnomAD |
|
|
rs146885503 CA1283918 |
278 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343686734 rs1439969233 |
278 | E>Q | No |
ClinGen gnomAD |
|
|
CA343686765 rs1477410297 |
279 | Q>L | No |
ClinGen gnomAD |
|
|
CA343687049 rs1288477039 |
282 | R>K | No |
ClinGen TOPMed |
|
|
rs1558035973 CA343687074 |
283 | L>V | No |
ClinGen Ensembl |
|
|
CA343687135 rs1275261410 |
286 | Q>* | No |
ClinGen gnomAD |
|
|
rs757347671 CA1283938 |
288 | A>V | No |
ClinGen ExAC |
|
|
rs1324335117 CA343687230 |
290 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1324335117 CA343687227 |
290 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343687320 rs1558036051 |
293 | Q>E | No |
ClinGen Ensembl |
|
|
rs746379812 CA1283940 |
296 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770228705 CA1283941 |
297 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343687450 rs1449882972 |
298 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343687629 rs1202386482 |
306 | H>R | No |
ClinGen gnomAD |
|
|
COSM900806 CA343687705 rs1297456313 COSM1583883 |
309 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1283945 rs772896681 |
312 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs150044847 CA1283946 |
313 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1283948 rs114901535 |
316 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752652865 CA33997972 |
316 | E>V | No |
ClinGen gnomAD |
|
|
CA343687941 rs1173038338 |
318 | H>Q | No |
ClinGen gnomAD |
|
|
rs556294864 CA1283949 |
319 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1164042014 CA343688038 |
323 | D>E | No |
ClinGen gnomAD |
|
|
rs1398244617 CA343688102 |
327 | C>F | No |
ClinGen gnomAD |
|
|
rs778089784 CA33997985 |
327 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1283951 rs752583026 |
329 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA343688212 rs1383820395 |
333 | A>T | No |
ClinGen gnomAD |
|
|
rs780505775 CA343689023 CA1283963 |
336 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA343689034 rs1345840924 |
337 | S>F | No |
ClinGen gnomAD |
|
|
CA343689054 rs1301009648 |
339 | L>F | No |
ClinGen gnomAD |
|
|
rs749662082 CA1283964 |
341 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1046398285 CA34001722 |
341 | I>M | No |
ClinGen gnomAD |
|
|
rs1258676965 CA343689134 |
346 | P>S | No |
ClinGen TOPMed |
|
|
CA343689157 rs1238942589 |
348 | Q>R | No |
ClinGen gnomAD |
|
|
CA1283967 rs746673974 |
349 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343689166 rs746673974 |
349 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34001737 rs993297642 |
351 | S>F | No |
ClinGen TOPMed |
|
|
CA343689201 rs1558037162 |
352 | Q>E | No |
ClinGen Ensembl |
|
|
CA1283968 rs576873326 |
352 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375694152 CA34001742 |
353 | E>G | No |
ClinGen Ensembl |
|
|
CA1283970 rs562365283 |
356 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 357 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343689285 rs1306578397 |
358 | A>V | No |
ClinGen TOPMed |
|
|
CA1283971 rs143340793 |
359 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1402877676 CA343689306 |
360 | P>L | No |
ClinGen TOPMed |
|
|
rs1023115415 CA34001769 |
360 | P>S | No |
ClinGen TOPMed |
|
|
rs775557236 CA1283973 |
367 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572032067 CA343689387 |
367 | S>F | No |
ClinGen Ensembl |
|
|
rs775557236 CA343689382 |
367 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343689390 rs1178243020 |
368 | M>L | No |
ClinGen gnomAD |
|
|
CA1283974 rs762724945 |
369 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA343689463 rs1173975939 |
374 | R>T | No |
ClinGen gnomAD |
|
|
CA1283976 rs751255948 |
375 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs374173680 CA1283977 |
377 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs75979586 CA1283978 |
380 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs12568823 CA1283979 |
381 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12568823 CA1283980 |
381 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1379953822 CA343689557 |
382 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 382 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924675285 CA34001850 |
384 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1283981 rs780593659 |
385 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA34001861 rs934661859 |
388 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs987069565 CA34003543 |
389 | I>V | No |
ClinGen Ensembl |
|
|
CA34003546 rs146096511 |
394 | I>T | No |
ClinGen ESP |
|
|
rs1192711543 CA343689768 |
402 | P>L | No |
ClinGen TOPMed |
|
|
CA343689786 rs1201610254 |
405 | E>K | No |
ClinGen gnomAD |
|
|
CA343689805 rs371763376 |
406 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781060212 CA1284006 |
407 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343689840 rs1249067678 |
409 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1284007 rs745521666 |
410 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1421359623 CA343689869 |
411 | S>N | No |
ClinGen gnomAD |
|
| rs765834018 | 412 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 412 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284019 rs759516722 |
412 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753143535 CA1284021 |
414 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1284022 rs758909393 |
418 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1408059761 CA343690801 |
419 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 425 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359330988 CA343690878 |
426 | A>S | No |
ClinGen gnomAD |
|
|
rs779541236 CA1284027 |
429 | P>S | No |
ClinGen ExAC |
|
|
rs748878994 CA1284028 |
431 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA34005501 rs758306614 |
434 | L>V | No |
ClinGen Ensembl |
|
|
CA34005505 rs998558236 |
435 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 438 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284041 rs775655050 |
438 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196460037 CA343691162 |
440 | H>D | No |
ClinGen gnomAD |
|
|
CA343691165 rs1249405356 |
440 | H>R | No |
ClinGen gnomAD |
|
|
CA343691187 rs1183404368 |
442 | G>S | No |
ClinGen gnomAD |
|
|
CA1284042 rs763578957 |
442 | G>V | No |
ClinGen ExAC |
|
|
CA1284045 rs201829877 |
445 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764656737 CA1284044 |
445 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs370644405 CA1284046 |
446 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343691217 rs377543495 |
446 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA34005535 rs377543495 |
446 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377543495 CA343691218 |
446 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA343691241 rs1314762610 |
449 | G>D | No |
ClinGen gnomAD |
|
|
CA34005541 rs988371125 |
449 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1029758214 CA34005545 |
452 | R>Q | No |
ClinGen TOPMed |
|
|
rs759750085 CA1284047 |
453 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329408582 CA343691276 |
455 | R>* | No |
ClinGen gnomAD |
|
|
rs1404335952 CA343691279 COSM208841 |
455 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA343691282 rs1283859889 |
456 | Q>* | No |
ClinGen gnomAD |
|
|
rs576099379 CA1284048 |
457 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1284050 rs778297341 |
458 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34005549 COSM1226870 rs914130337 |
458 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752151196 CA343691299 |
459 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA34005563 rs368030706 |
462 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770630055 CA343691367 |
462 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1284054 rs746868526 |
462 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1284053 rs368030706 |
462 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191539225 CA343691450 |
468 | D>N | No |
ClinGen gnomAD |
|
|
CA343691456 rs1372846581 |
468 | D>V | No |
ClinGen gnomAD |
|
|
rs140277964 CA34005586 |
469 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140277964 CA1284056 |
469 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1284057 rs746092415 |
469 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343691997 rs1269101560 |
472 | R>S | No |
ClinGen gnomAD |
|
|
rs1401145405 CA343692004 |
474 | I>V | No |
ClinGen TOPMed |
|
|
rs777758585 CA1284073 |
475 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1464718778 CA343692022 |
476 | C>Y | No |
ClinGen gnomAD |
|
|
rs1246234567 CA343692025 |
477 | E>K | No |
ClinGen gnomAD |
|
|
CA343692058 rs1316612680 |
481 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343692069 rs1237629674 |
483 | L>M | No |
ClinGen gnomAD |
|
|
CA34006195 rs1016911670 |
486 | I>L | No |
ClinGen TOPMed |
|
|
CA34006196 rs942914297 |
490 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 492 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260671313 CA343692139 |
493 | I>V | No |
ClinGen gnomAD |
|
|
rs1438898499 CA343692158 |
496 | D>N | No |
ClinGen TOPMed |
|
|
CA343692176 rs556214694 |
498 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556214694 CA1284074 |
498 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207298733 CA343692190 |
500 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 502 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757164074 CA1284075 |
503 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1284076 rs780872648 |
504 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343692219 rs1457767804 |
504 | L>P | No |
ClinGen TOPMed |
|
|
rs1572072447 CA343692228 |
506 | L>V | No |
ClinGen Ensembl |
|
|
CA343692246 rs1417416602 |
508 | E>V | No |
ClinGen gnomAD |
|
|
rs1364343796 CA343692256 |
510 | S>P | No |
ClinGen gnomAD |
|
|
CA1284080 rs749435903 |
511 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA34006289 rs762761287 |
513 | E>G | No |
ClinGen Ensembl |
|
|
rs372945126 CA1284081 |
514 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1284083 rs762238851 |
517 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284084 rs574591909 |
517 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1284086 rs761065202 |
518 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200975090 CA1284085 |
518 | D>Y | No |
ClinGen 1000Genomes ExAC |
|
|
rs752345579 CA1284088 |
519 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148593325 CA1284087 |
519 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343692309 rs752345579 |
519 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343692333 rs1259518211 |
523 | L>P | No |
ClinGen gnomAD |
|
|
CA343692371 rs1312079950 |
529 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 530 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558052890 CA343692378 |
530 | S>R | No |
ClinGen Ensembl |
|
|
CA343692382 rs1404228900 |
531 | R>L | No |
ClinGen TOPMed |
|
| TCGA novel | 532 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751032714 CA1284091 |
532 | N>K | No |
ClinGen ExAC |
|
| TCGA novel | 535 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343692414 rs1422070712 |
535 | N>K | No |
ClinGen gnomAD |
|
|
CA343692420 rs1465283171 |
536 | N>K | No |
ClinGen gnomAD |
|
|
rs201939557 CA1284093 |
536 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201939557 CA343692418 |
536 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750234937 CA1284094 |
538 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs780489852 CA1284096 |
540 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384492189 CA343692463 |
542 | K>N | No |
ClinGen gnomAD |
|
|
rs1340650712 CA343692470 |
544 | V>L | No |
ClinGen gnomAD |
|
|
rs1340650712 CA343692471 |
544 | V>M | No |
ClinGen gnomAD |
|
|
rs1313687530 CA343692497 |
548 | K>E | No |
ClinGen gnomAD |
|
|
CA343692501 rs1210573179 |
548 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343692500 rs1210573179 |
548 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1284098 rs749523693 |
549 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755192116 CA1284099 |
551 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755192116 CA343692520 |
551 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34006341 rs1018515557 |
552 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1284100 rs371409902 |
554 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191721471 CA343692548 |
555 | E>D | No |
ClinGen gnomAD |
|
|
rs1047184364 CA34006351 |
556 | V>A | No |
ClinGen TOPMed |
|
|
rs200604003 CA1284102 CA1284101 |
556 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs957335228 CA34006356 |
560 | Q>R | No |
ClinGen gnomAD |
|
|
CA343692583 rs1357847588 |
561 | G>R | No |
ClinGen gnomAD |
|
|
CA1284103 rs773742672 |
562 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747402584 CA1284104 |
565 | P>L | No |
ClinGen ExAC |
|
|
CA1284105 rs771293849 |
566 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1284106 rs776925128 |
567 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1398871498 CA343692644 |
570 | R>K | No |
ClinGen gnomAD |
|
|
CA1284107 rs762619434 |
572 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1304420050 CA343692660 |
572 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343692680 rs1369289058 |
575 | K>E | No |
ClinGen gnomAD |
|
|
CA1284108 rs763697367 |
575 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs531696447 CA1284109 |
576 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343692703 rs1310265495 |
578 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343692702 rs1310265495 |
578 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1284110 rs761365274 |
581 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 586 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284322007 CA343692785 |
588 | N>S | No |
ClinGen TOPMed |
|
|
rs1379740109 CA343692805 |
590 | K>M | No |
ClinGen gnomAD |
|
|
rs750369379 CA1284112 |
593 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA343692856 rs1572074048 |
594 | E>K | No |
ClinGen Ensembl |
|
|
rs766288903 CA1284114 |
597 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1190882541 CA343692939 |
598 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1190882541 CA343692937 |
598 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1558053715 CA343692949 |
598 | C>W | No |
ClinGen Ensembl |
|
|
CA343692952 rs1242648682 |
599 | T>S | No |
ClinGen TOPMed |
|
|
CA1284115 rs549736956 |
601 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755279910 CA1284116 |
602 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1342357094 CA343692997 |
602 | K>N | No |
ClinGen TOPMed |
|
|
rs1159728277 CA343693007 |
603 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343693016 rs1360465193 |
604 | Q>* | No |
ClinGen gnomAD |
|
|
rs779161853 CA1284117 |
604 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA343693039 rs1399317558 |
605 | E>G | No |
ClinGen TOPMed |
|
|
rs748222273 CA1284118 |
608 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343693090 rs1351170890 |
609 | Q>E | No |
ClinGen gnomAD |
|
|
CA1284120 rs777650551 |
611 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343693154 rs1368459620 |
612 | A>T | No |
ClinGen gnomAD |
|
|
rs7415167 CA34006388 |
613 | V>G | No |
ClinGen Ensembl |
|
|
rs747569097 CA343693165 |
613 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1284121 rs747569097 |
613 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1389512589 CA343693200 |
614 | Q>H | No |
ClinGen TOPMed |
|
|
rs1309808966 CA343693185 |
614 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771381828 CA1284122 |
614 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771381828 CA343693194 |
614 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199568158 CA343693841 |
615 | V>I | No |
ClinGen gnomAD |
|
|
CA343693848 rs1394733767 |
616 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 616 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267598228 CA34007759 |
617 | S>F | No |
ClinGen Ensembl |
|
|
rs201552704 CA34007736 |
617 | S>P | No |
ClinGen 1000Genomes |
|
|
rs757802646 CA1284139 |
618 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781648375 CA1284140 |
619 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284141 rs200413251 |
625 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs34221194 VAR_051363 CA34007795 |
627 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA34007808 rs867185313 |
629 | A>D | No |
ClinGen Ensembl |
|
|
rs770140858 CA1284142 |
629 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780214447 CA1284143 |
630 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA343693942 rs747848424 |
631 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284144 rs747848424 |
631 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763600326 CA343693952 |
633 | P>A | No |
ClinGen TOPMed |
|
|
CA1284145 rs150677184 |
633 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA34007823 rs763600326 |
633 | P>T | No |
ClinGen TOPMed |
|
|
CA343693980 rs1408024713 |
635 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1284147 rs149115198 |
639 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199782003 CA1284149 |
641 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM900810 rs558478492 CA1284148 |
641 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343694051 rs1342500826 |
642 | S>G | No |
ClinGen gnomAD |
|
|
CA1284151 rs201077093 |
642 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201077093 CA1284150 |
642 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1337796027 CA343694116 |
647 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 648 | P>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145082514 CA1284152 |
649 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008952800 CA34007872 |
650 | H>R | No |
ClinGen Ensembl |
|
|
rs1442339266 CA343694161 |
652 | P>S | No |
ClinGen gnomAD |
|
|
CA343694198 rs1186492731 |
655 | F>L | No |
ClinGen gnomAD |
|
|
rs1442105499 CA343694192 |
655 | F>V | No |
ClinGen TOPMed |
|
|
CA343694205 rs1254736712 |
656 | P>S | No |
ClinGen gnomAD |
|
|
COSM1560392 CA1284153 COSM1560393 rs763270668 |
659 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1200392386 CA343694254 |
661 | R>K | No |
ClinGen gnomAD |
|
|
CA34007896 rs1038788763 |
662 | P>L | No |
ClinGen Ensembl |
|
|
rs1489128050 COSM208842 CA343694309 |
665 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 667 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750452111 CA1284177 |
668 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1284178 rs756674791 |
669 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA343694334 rs1355045358 |
670 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 670 | V>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240133437 CA343694342 |
671 | I>F | No |
ClinGen gnomAD |
|
|
CA34008234 rs77626632 |
671 | I>T | No |
ClinGen Ensembl |
|
|
CA343694355 rs374142592 |
673 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1284181 rs374142592 |
673 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374142592 CA1284180 |
673 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343694352 rs1484629480 |
673 | P>T | No |
ClinGen gnomAD |
|
|
CA343694356 rs1467816607 |
674 | P>A | No |
ClinGen gnomAD |
|
|
CA1284183 rs34426362 |
674 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34426362 CA1284184 |
674 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA34008287 rs1014291375 |
677 | F>Y | No |
ClinGen Ensembl |
|
|
CA343694386 rs34801227 |
679 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1284186 rs34801227 |
679 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343694405 rs1372374926 |
682 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1158349777 CA343694408 |
682 | G>D | No |
ClinGen gnomAD |
|
|
rs1459532882 CA343694424 |
684 | T>I | No |
ClinGen gnomAD |
|
|
CA343694419 rs1362096048 |
684 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1028147909 CA34008296 |
685 | F>V | No |
ClinGen TOPMed |
|
|
CA343694437 rs1409899053 |
686 | P>L | No |
ClinGen gnomAD |
|
|
CA34008300 rs756688416 |
688 | G>S | No |
ClinGen Ensembl |
|
|
rs532988126 CA1284187 |
689 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775276534 CA1284188 |
690 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA343694474 rs1446656364 |
693 | G>E | No |
ClinGen gnomAD |
|
|
CA1284190 rs768342518 |
694 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs762043444 CA1284192 |
695 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1265591457 CA343694489 |
696 | L>I | No |
ClinGen gnomAD |
|
|
rs1333694449 CA343694499 |
697 | Q>R | No |
ClinGen gnomAD |
|
|
CA343694508 rs1239743198 |
698 | P>L | No |
ClinGen gnomAD |
|
|
CA343694510 rs1558059864 |
699 | T>A | No |
ClinGen Ensembl |
|
|
rs773319839 CA1284194 |
700 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1284196 rs766963927 |
701 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 702 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 703 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284197 rs754293424 |
704 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754293424 CA1284198 |
704 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1303805703 CA343694542 |
704 | A>V | No |
ClinGen gnomAD |
|
|
rs1417317603 CA343694580 |
710 | A>T | No |
ClinGen gnomAD |
|
|
rs1173142982 CA343694595 |
712 | K>I | No |
ClinGen gnomAD |
|
|
rs1460052395 CA343694591 |
712 | K>Q | No |
ClinGen gnomAD |
|
|
rs1401429031 CA343694621 |
714 | S>F | No |
ClinGen gnomAD |
|
|
CA1284200 rs145036438 |
717 | P>T | No |
ClinGen ESP ExAC |
|
|
rs757014817 CA1284201 |
718 | Y>D | No |
ClinGen ExAC |
|
|
CA343694700 rs1313170953 |
720 | Q>E | No |
ClinGen gnomAD |
|
|
CA34008397 rs1015474305 |
720 | Q>R | No |
ClinGen TOPMed |
|
|
CA343694736 rs1210419925 |
722 | R>Q | No |
ClinGen TOPMed |
|
|
CA343694731 rs1296890979 |
722 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA343694747 rs1381972293 |
723 | P>L | No |
ClinGen gnomAD |
|
|
rs1210947907 CA343694754 |
724 | S>F | No |
ClinGen TOPMed |
|
|
rs745441928 CA1284203 |
724 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284204 rs372706629 |
727 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284207 rs768529954 |
729 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1284206 rs190188953 |
729 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343694836 rs1316218555 |
730 | N>S | No |
ClinGen TOPMed |
|
|
rs1034753937 CA34008426 |
732 | G>R | No |
ClinGen TOPMed |
|
|
CA1284210 rs141934208 |
733 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343694898 rs1292513415 |
733 | P>L | No |
ClinGen TOPMed |
|
|
CA1284211 rs772328232 |
734 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs760871911 CA1284213 |
738 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770916345 CA1284214 |
739 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1572091455 CA343694998 |
742 | Q>H | No |
ClinGen Ensembl |
|
|
rs944611193 CA34008471 |
742 | Q>P | No |
ClinGen gnomAD |
|
|
rs974462442 CA34008477 |
743 | P>S | No |
ClinGen gnomAD |
|
|
CA343695029 rs1484358253 |
745 | T>K | No |
ClinGen gnomAD |
|
|
rs1572091549 CA343695051 |
747 | L>F | No |
ClinGen Ensembl |
|
|
rs1361315353 CA343695061 |
748 | P>L | No |
ClinGen gnomAD |
|
|
CA343695074 rs1312842856 |
749 | A>G | No |
ClinGen gnomAD |
|
|
CA34008490 rs372917832 |
749 | A>P | No |
ClinGen ESP gnomAD |
|
|
rs372917832 CA343695068 |
749 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA343695079 rs1374276153 |
750 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA343695084 rs1251179985 |
750 | Q>R | No |
ClinGen gnomAD |
|
|
CA34008503 rs990980422 |
754 | Q>E | No |
ClinGen TOPMed |
|
|
rs1412400009 CA343695139 |
755 | S>P | No |
ClinGen gnomAD |
|
|
CA1284215 rs776713217 |
756 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759994894 CA1284216 |
758 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs753165326 CA1284218 |
760 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM900816 rs1313777617 CA343695231 |
763 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 766 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473888952 CA343695281 |
768 | Q>K | No |
ClinGen TOPMed |
|
|
CA343695339 rs1187725094 |
771 | P>R | No |
ClinGen TOPMed |
|
|
rs1558060812 CA343695337 |
771 | P>S | No |
ClinGen Ensembl |
|
|
CA343695343 rs138329574 |
772 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343695345 rs1264075784 |
772 | T>K | No |
ClinGen gnomAD |
|
|
CA1284221 rs138329574 |
772 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 774 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779451269 CA1284223 |
776 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1432354022 CA343695411 |
777 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778799891 CA1284226 |
777 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778799891 CA34008588 |
777 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343695435 rs1329832186 |
779 | G>E | No |
ClinGen TOPMed |
|
|
rs1210500077 CA343695429 |
779 | G>R | No |
ClinGen TOPMed |
|
|
CA1284229 COSM1639643 COSM1639644 rs777554923 |
782 | P>L | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 783 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391931373 CA343695497 |
784 | H>R | No |
ClinGen gnomAD |
|
|
CA1284233 rs759670799 |
785 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1284235 rs776137274 |
788 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1313011248 CA343695556 |
788 | F>S | No |
ClinGen TOPMed |
|
|
rs1242297242 CA343695566 |
789 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 790 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771110382 CA1284250 |
792 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321482577 CA343696560 |
794 | A>T | No |
ClinGen TOPMed |
|
|
rs746016060 CA1284252 |
795 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1284251 rs550924906 |
795 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1284253 rs770000200 |
798 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA343696676 rs770000200 |
798 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1669861438 RCV001264691 |
801 | W>* | No |
ClinVar dbSNP |
|
|
CA1284256 rs769164089 |
803 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372630167 CA1284255 |
803 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762215250 CA1284258 |
808 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1284260 rs776257580 |
811 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766005753 CA1284259 |
811 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329384986 CA343697007 |
814 | M>I | No |
ClinGen gnomAD |
|
|
rs759118643 CA1284261 |
814 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 814 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA34009224 rs866404927 |
815 | P>S | No |
ClinGen Ensembl |
|
|
CA1284262 rs764737499 |
816 | V>M | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752151171 CA1284263 |
819 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA343697087 rs1305817779 |
820 | Y>C | No |
ClinGen gnomAD |
|
|
CA1284266 rs751372328 |
822 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA34009232 rs967806415 |
822 | L>P | No |
ClinGen TOPMed |
|
|
rs757074284 CA1284267 |
823 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1284268 rs780784372 |
824 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343697160 rs1272823862 |
826 | D>G | No |
ClinGen gnomAD |
|
|
rs371150685 CA34009251 |
827 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1284270 rs144392540 |
828 | I>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1284271 rs780314050 |
832 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749345886 COSM288624 CA1284272 |
833 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749345886 CA343697234 |
833 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA34009297 rs771967776 |
834 | S>L | No |
ClinGen TOPMed |
|
|
rs144835952 CA1284275 |
834 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144835952 CA1284274 |
834 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1284276 rs772485924 |
837 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773503890 CA343697263 |
838 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1284277 rs773503890 |
838 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1450811385 CA343697265 |
839 | V>L | No |
ClinGen TOPMed |
|
|
CA343697276 rs1187612623 |
840 | M>I | No |
ClinGen TOPMed |
|
|
CA343697271 rs1395570200 |
840 | M>V | No |
ClinGen gnomAD |
|
|
rs1376093837 CA343697299 |
843 | Q>R | No |
ClinGen gnomAD |
|
|
rs200776184 CA34009322 |
844 | P>R | No |
ClinGen TOPMed |
|
|
CA34009317 rs976336144 |
844 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764827869 CA1284282 |
846 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775033511 CA1284283 |
847 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs749889899 | 849 | M>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343697335 rs1274193670 |
849 | M>V | No |
ClinGen TOPMed |
|
|
CA1284285 rs114197007 |
851 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1284284 rs762513979 |
851 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376757163 CA1284286 |
854 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343697370 rs376757163 |
854 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 855 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 855 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284287 rs757084937 |
855 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284291 rs780399737 |
857 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756442619 CA1284290 |
857 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs749435822 CA1284292 |
861 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs866284477 CA34009385 |
861 | P>T | No |
ClinGen TOPMed |
|
|
rs140427154 CA34009389 |
865 | K>R | No |
ClinGen ESP gnomAD |
|
|
rs113305929 CA34009398 |
867 | P>L | No |
ClinGen Ensembl |
|
|
rs112099120 CA34009422 |
874 | S>P | No |
ClinGen Ensembl |
|
|
CA1284295 rs748699198 |
875 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1284294 rs778787948 |
875 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs772407518 CA1284296 |
876 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34009456 rs772407518 |
876 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284297 rs778139554 |
877 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA343697527 rs1317940917 |
877 | M>V | No |
ClinGen gnomAD |
|
|
CA34009479 rs909316142 |
878 | A>S | No |
ClinGen TOPMed |
|
|
CA343697542 rs1431323924 |
879 | D>N | No |
ClinGen TOPMed |
|
|
rs1438271308 CA343697545 |
879 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 882 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370603587 CA343697638 |
887 | Q>H | No |
ClinGen TOPMed |
|
|
rs775123541 CA1284300 |
888 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762451188 CA1284301 |
889 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1284304 rs193125763 |
890 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558063697 CA343697663 |
890 | I>M | No |
ClinGen Ensembl |
|
|
CA1284305 rs193125763 |
890 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1284303 rs773686652 |
890 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343697673 rs1253451822 |
891 | D>E | No |
ClinGen gnomAD |
|
|
rs371570443 CA1284306 |
891 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 891 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343697672 rs1195261667 |
891 | D>V | No |
ClinGen gnomAD |
|
|
COSM900817 CA1284307 rs760532026 COSM1583877 |
892 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770528210 CA1284308 |
892 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770528210 CA1284309 |
892 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343697682 rs1454388623 |
893 | R>G | No |
ClinGen gnomAD |
|
|
rs546881676 CA1284311 |
894 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144194662 CA1284312 |
895 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1284314 rs778241737 |
896 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758942690 CA1284313 |
896 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1230089021 CA343697730 |
898 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1284316 VAR_051364 rs2298083 |
900 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1284317 rs375030502 |
902 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375030502 CA1284318 |
902 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1284319 rs199550372 |
902 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1284321 rs761204502 |
907 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs372784161 CA1284322 |
908 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539151943 CA1284323 |
909 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539151943 CA343697831 |
909 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1284324 rs760619744 |
911 | M>I | No |
ClinGen ExAC |
|
|
rs753527641 CA1284326 |
912 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766290902 CA1284325 |
912 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284328 rs200976676 |
913 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1284330 rs752882312 |
913 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747811416 CA1284356 |
919 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 921 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746485225 CA1284359 |
922 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 925 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138963951 CA1284361 |
925 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1284360 rs141850897 |
925 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745753740 CA1284362 |
931 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs912941838 CA34011442 |
931 | F>L | No |
ClinGen TOPMed |
|
|
CA343699497 rs1225542670 |
931 | F>Y | No |
ClinGen gnomAD |
|
|
rs369707451 CA1284364 |
933 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556853158 CA1284367 |
936 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343699543 rs1213556526 |
939 | L>V | No |
ClinGen gnomAD |
|
|
CA1284382 rs779869154 |
943 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768928121 CA1284384 |
943 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs749063877 CA1284383 |
943 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs774555218 CA1284385 |
947 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1329481510 CA343699622 |
948 | S>T | No |
ClinGen gnomAD |
|
|
CA343699634 rs1309954545 |
949 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343699629 rs1353956949 |
949 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 949 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761953616 CA1284386 |
951 | N>S | No |
ClinGen ExAC |
|
|
CA343699656 rs1572113922 COSM677668 COSM1646049 |
952 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA343699658 rs1314922237 |
953 | V>I | No |
ClinGen gnomAD |
|
|
rs1478279983 CA343699666 |
954 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 955 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773289336 CA1284388 |
956 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA34011867 rs748761121 |
961 | S>G | No |
ClinGen Ensembl |
|
|
rs1232949792 CA343699714 |
961 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1284389 rs761116777 |
961 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1196741269 CA343699721 |
962 | S>F | No |
ClinGen TOPMed |
|
|
CA343699735 rs1341943932 |
964 | A>G | No |
ClinGen gnomAD |
|
|
CA1284390 rs766877953 |
965 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284391 rs754301984 |
966 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1284392 rs754301984 |
966 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202399854 CA343699750 |
967 | S>N | No |
ClinGen gnomAD |
|
|
CA343699756 rs1259075099 |
968 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343699758 rs1485777399 |
968 | P>L | No |
ClinGen gnomAD |
|
|
rs1259075099 CA343699755 |
968 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1284396 CA343699772 rs780598585 |
970 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343699768 rs751270924 |
970 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284395 rs756885651 |
970 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751270924 CA1284394 |
970 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749921737 CA1284397 |
972 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 973 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756058781 CA1284398 |
973 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 982 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749150600 CA1284400 |
982 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA343699851 rs1332460587 |
983 | G>R | No |
ClinGen gnomAD |
|
|
rs1279458099 CA343699862 |
984 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1572114539 CA343699857 |
984 | T>P | No |
ClinGen Ensembl |
|
|
rs1328506494 CA343699868 |
985 | P>L | No |
ClinGen gnomAD |
|
|
rs376164793 CA1284402 |
990 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748336502 CA1284403 |
991 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs370728254 CA34011956 |
993 | S>T | No |
ClinGen ESP |
|
|
rs758597041 CA1284424 |
999 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1196826028 CA343700505 |
1005 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1005 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470613020 CA343700527 |
1007 | S>A | No |
ClinGen gnomAD |
|
|
rs776805111 CA1284428 |
1011 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA343700588 rs1386836959 |
1013 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1016 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775771059 CA1284432 |
1018 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767144493 CA1284434 |
1020 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760259431 CA1284436 |
1021 | H>R | No |
ClinGen ExAC TOPMed |
|
|
CA1284435 rs772926172 |
1021 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765894852 CA343700695 |
1024 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284437 rs765894852 |
1024 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34014586 rs142727855 |
1025 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1284439 rs754943992 |
1027 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA343700747 rs1488103533 |
1028 | N>S | No |
ClinGen gnomAD |
|
|
CA34014602 rs771685001 |
1032 | I>F | No |
ClinGen Ensembl |
|
|
CA1284440 rs765135844 |
1032 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA343700828 rs1349249505 |
1033 | G>A | No |
ClinGen TOPMed |
|
|
CA343700880 CA343700879 rs1252700919 |
1036 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1038 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA34014605 rs975147334 |
1039 | D>G | No |
ClinGen TOPMed |
|
|
rs1438480445 CA343700957 |
1042 | T>S | No |
ClinGen gnomAD |
|
|
rs921509603 CA343700982 |
1044 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs921509603 CA34014607 |
1044 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs921509603 CA34014608 |
1044 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343700998 rs1410029278 |
1045 | R>Q | No |
ClinGen gnomAD |
|
|
rs573176986 CA34014616 |
1045 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143179218 CA1284443 |
1047 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1049 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs33999926 CA1284444 |
1049 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1284445 rs757516542 |
1051 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1284469 rs779942513 |
1053 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1284470 rs749821785 |
1054 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297531240 CA343701226 |
1056 | F>I | No |
ClinGen gnomAD |
|
|
CA1284471 rs143367257 |
1057 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779370302 CA1284472 |
1058 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1284474 rs576098227 |
1059 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368937910 CA1284473 |
1059 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776261634 CA1284475 |
1061 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1748002 rs1002611762 CA34014749 COSM1748003 |
1062 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs906503791 CA34014746 |
1062 | S>P | No |
ClinGen TOPMed |
|
|
CA1284476 rs150421562 |
1064 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1197169 CA1284477 rs200203235 |
1064 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1449360554 CA343701380 |
1067 | S>F | No |
ClinGen gnomAD |
|
|
CA343701404 rs1387725173 |
1069 | S>T | No |
ClinGen gnomAD |
|
|
CA34014795 rs868283676 |
1071 | W>R | No |
ClinGen Ensembl |
|
|
CA1284481 rs751458911 |
1072 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761699843 CA1284482 |
1073 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1260432896 CA343701450 |
1075 | S>G | No |
ClinGen TOPMed |
|
|
rs750689856 CA1284484 |
1075 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1389153416 CA343701467 |
1077 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1389153416 CA343701466 |
1077 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343701471 rs1274664849 |
1078 | S>N | No |
ClinGen gnomAD |
|
|
rs1373195502 CA343701501 |
1082 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1284487 rs753828242 |
1083 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284488 rs201146308 |
1084 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343701510 rs1193610459 |
1084 | H>Y | No |
ClinGen gnomAD |
|
|
rs779273187 CA1284489 |
1086 | P>L | No |
ClinGen ExAC |
|
|
rs748579043 CA343701532 CA1284490 |
1088 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778238772 CA34014839 |
1089 | E>D | No |
ClinGen Ensembl |
|
|
rs772427848 CA1284491 |
1090 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA343701612 rs1464745375 |
1099 | L>P | No |
ClinGen gnomAD |
|
|
CA34015142 rs779569969 |
1102 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284513 rs779569969 |
1102 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284514 rs748907662 |
1104 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1105 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558076124 CA343701667 |
1106 | S>T | No |
ClinGen Ensembl |
|
|
rs1171012137 CA343701676 |
1107 | M>T | No |
ClinGen gnomAD |
|
|
CA1284515 rs768066959 |
1108 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1419809466 CA343701694 |
1109 | H>R | No |
ClinGen gnomAD |
|
|
CA343701698 rs1418583500 |
1110 | P>S | No |
ClinGen TOPMed |
|
|
COSM3976700 CA1284516 rs773953989 |
1111 | G>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA343701713 rs1164023549 |
1112 | P>R | No |
ClinGen gnomAD |
|
|
CA1284518 rs772100508 |
1114 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343701745 rs1450773473 |
1117 | Q>H | No |
ClinGen TOPMed |
|
|
CA1284522 rs776720662 |
1119 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs12032292 CA34015163 |
1122 | Q>H | No |
ClinGen Ensembl |
|
|
rs1288359046 CA343701816 |
1127 | Q>* | No |
ClinGen gnomAD |
|
|
rs758953179 CA1284526 |
1128 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs758953179 CA343701824 |
1128 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1284525 rs141954443 |
1128 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764572787 CA1284527 |
1129 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1284528 rs764572787 |
1129 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA343701833 rs1393075878 |
1130 | Q>R | No |
ClinGen gnomAD |
|
|
rs1259293600 CA343701848 |
1132 | T>I | No |
ClinGen gnomAD |
|
|
CA343701869 rs1181135217 |
1135 | P>L | No |
ClinGen gnomAD |
|
|
CA1284530 rs781565290 |
1135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA34015208 rs961639241 |
1136 | P>L | No |
ClinGen TOPMed |
No associated diseases with Q92540
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
| 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. |
| telomerase holoenzyme complex | Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein phosphatase 2A binding | Binding to protein phosphatase 2A. |
| telomerase RNA binding | Binding to the telomerase RNA template. |
| telomeric DNA binding | Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA export from nucleus | The directed movement of mRNA from the nucleus to the cytoplasm. |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins. |
| regulation of dephosphorylation | Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLQSAQYLR | QAEVLKADMT | DSKLGPAEVW | TSRQALQDLY | QKMLVTDLEY | ALDKKVEQDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WNHAFKNQIT | TLQGQAKNRA | NPNRSEVQAN | LSLFLEAASG | FYTQLLQELC | TVFNVDLPCR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKSSQLGIIS | NKQTHTSAIV | KPQSSSCSYI | CQHCLVHLGD | IARYRNQTSQ | AESYYRHAAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVPSNGQPYN | QLAILASSKG | DHLTTIFYYC | RSIAVKFPFP | AASTNLQKAL | SKALESRDEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KTKWGVSDFI | KAFIKFHGHV | YLSKSLEKLS | PLREKLEEQF | KRLLFQKAFN | SQQLVHVTVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NLFQLHHLRD | FSNETEQHTY | SQDEQLCWTQ | LLALFMSFLG | ILCKCPLQNE | SQEESYNAYP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPAVKVSMDW | LRLRPRVFQE | AVVDERQYIW | PWLISLLNSF | HPHEEDLSSI | SATPLPEEFE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQGFLALRPS | FRNLDFSKGH | QGITGDKEGQ | QRRIRQQRLI | SIGKWIADNQ | PRLIQCENEV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GKLLFITEIP | ELILEDPSEA | KENLILQETS | VIESLAADGS | PGLKSVLSTS | RNLSNNCDTG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EKPVVTFKEN | IKTREVNRDQ | GRSFPPKEVR | RDYSKGITVT | KNDGKKDNNK | RKTETKKCTL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EKLQETGKQN | VAVQVKSQTE | LRKTPVSEAR | KTPVTQTPTQ | ASNSQFIPIH | HPGAFPPLPS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RPGFPPPTYV | IPPPVAFSMG | SGYTFPAGVS | VPGTFLQPTA | HSPAGNQVQA | GKQSHIPYSQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QRPSGPGPMN | QGPQQSQPPS | QQPLTSLPAQ | PTAQSTSQLQ | VQALTQQQQS | PTKAVPALGK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SPPHHSGFQQ | YQQADASKQL | WNPPQVQGPL | GKIMPVKQPY | YLQTQDPIKL | FEPSLQPPVM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QQQPLEKKMK | PFPMEPYNHN | PSEVKVPEFY | WDSSYSMADN | RSVMAQQANI | DRRGKRSPGV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FRPEQDPVPR | MPFEKSLLEK | PSELMSHSSS | FLSLTGFSLN | QERYPNNSMF | NEVYGKNLTS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SSKAELSPSM | APQETSLYSL | FEGTPWSPSL | PASSDHSTPA | SQSPHSSNPS | SLPSSPPTHN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| HNSVPFSNFG | PIGTPDNRDR | RTADRWKTDK | PAMGGFGIDY | LSATSSSESS | WHQASTPSGT |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| WTGHGPSMED | SSAVLMESLK | SIWSSSMMHP | GPSALEQLLM | QQKQKQQRGQ | GTMNPPH |