Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6ZRR7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZRR7-F1 | Predicted | AlphaFoldDB |
938 variants for Q6ZRR7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1413005430 CA390064457 |
2 | I>T | No |
ClinGen gnomAD |
|
|
rs1251657643 CA390064488 |
6 | N>S | No |
ClinGen gnomAD |
|
|
rs759665146 CA7209938 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1442538428 CA390064506 |
9 | Q>K | No |
ClinGen TOPMed |
|
|
rs530100468 CA262147452 |
15 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1238630765 CA390064560 |
16 | L>P | No |
ClinGen gnomAD |
|
|
CA390064578 rs1417419034 |
17 | C>S | No |
ClinGen gnomAD |
|
|
rs1161540659 CA390064581 |
17 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1314772830 CA390064592 |
19 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs530880728 CA262147470 |
19 | C>R | No |
ClinGen 1000Genomes |
|
|
rs1314772830 CA390064591 |
19 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1403041000 CA390064596 |
20 | N>H | No |
ClinGen gnomAD |
|
|
CA7209941 rs760898442 |
20 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs760898442 CA262147471 |
20 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390064632 rs1273698086 |
25 | E>A | No |
ClinGen TOPMed |
|
|
rs1342822254 CA390064630 |
25 | E>Q | No |
ClinGen TOPMed |
|
|
rs1000667786 CA262147472 |
26 | M>I | No |
ClinGen TOPMed |
|
|
rs552199609 CA7209942 |
26 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145698407 CA7209943 |
30 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1241246976 CA390064697 |
35 | S>T | No |
ClinGen gnomAD |
|
|
CA390064714 rs1346286582 |
37 | L>S | No |
ClinGen gnomAD |
|
|
CA390064722 rs1281722222 |
38 | E>G | No |
ClinGen gnomAD |
|
|
rs1441464644 CA390064736 |
40 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768157843 CA262147477 |
46 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs562390499 CA262147478 |
46 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA390064785 rs1247969889 |
47 | I>T | No |
ClinGen gnomAD |
|
|
CA262147479 rs933682240 |
47 | I>V | No |
ClinGen Ensembl |
|
|
rs1178956332 CA390064799 |
49 | G>V | No |
ClinGen gnomAD |
|
|
CA7209946 rs749979554 |
57 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296528748 CA390064857 |
58 | S>N | No |
ClinGen gnomAD |
|
|
rs1447828242 CA390064872 |
60 | T>S | No |
ClinGen gnomAD |
|
|
rs955632047 CA262147480 |
61 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1212023020 CA390064892 |
64 | Q>* | No |
ClinGen TOPMed |
|
|
CA390064894 rs1212023020 |
64 | Q>E | No |
ClinGen TOPMed |
|
|
rs1018508736 CA262147482 |
66 | I>M | No |
ClinGen TOPMed |
|
|
rs200097783 CA7209947 |
66 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262147481 rs751635591 |
66 | I>V | No |
ClinGen TOPMed |
|
|
CA262147484 rs903656511 |
68 | E>G | No |
ClinGen Ensembl |
|
|
rs999458535 CA262147485 |
71 | G>E | No |
ClinGen Ensembl |
|
|
CA262147486 rs974230171 |
73 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7209948 rs568198713 |
79 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556966841 CA262147488 |
82 | W>C | No |
ClinGen 1000Genomes |
|
|
rs1466953436 CA390065099 |
84 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1466953436 CA390065097 |
84 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 85 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157073283 CA390065129 |
87 | C>R | No |
ClinGen TOPMed |
|
|
rs1195340574 CA390065131 |
87 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1183366922 CA390065150 |
88 | I>M | No |
ClinGen TOPMed |
|
|
CA262147489 rs982886754 |
89 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1471088968 CA390065493 |
91 | I>V | No |
ClinGen TOPMed |
|
|
CA390065515 rs1292769681 |
92 | E>G | No |
ClinGen gnomAD |
|
|
rs1319345207 CA390065537 |
94 | L>V | No |
ClinGen gnomAD |
|
|
rs1046593019 CA262147712 |
95 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1332225538 CA390065630 |
101 | E>* | No |
ClinGen gnomAD |
|
|
CA262147714 rs928254507 |
105 | L>I | No |
ClinGen TOPMed |
|
|
rs1179631324 CA390065690 |
107 | F>L | No |
ClinGen TOPMed |
|
|
CA390065731 rs1265838328 |
113 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 116 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390065752 rs1256271657 |
116 | L>V | No |
ClinGen TOPMed |
|
|
rs906790826 CA262147716 |
117 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA390065759 rs1485481713 |
117 | E>Q | No |
ClinGen gnomAD |
|
|
CA390065781 rs1262193533 |
120 | I>L | No |
ClinGen TOPMed |
|
|
rs1001860252 CA262147717 |
122 | L>S | No |
ClinGen TOPMed |
|
|
CA390065807 rs1237563837 CA390065808 |
123 | K>N | No |
ClinGen TOPMed |
|
|
CA262147718 rs1033751178 |
124 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 125 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390065824 rs1265313365 |
126 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390065861 rs1403992449 |
131 | T>K | No |
ClinGen TOPMed |
|
|
rs963184095 CA262147719 |
132 | I>T | No |
ClinGen TOPMed |
|
|
rs1354306082 CA390065883 |
134 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390065882 rs1354306082 |
134 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754594686 CA7209950 |
135 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187390698 CA390065892 |
136 | E>K | No |
ClinGen gnomAD |
|
|
rs1229710331 CA390065916 |
137 | G>V | No |
ClinGen gnomAD |
|
|
rs1316099207 CA390065925 |
139 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs914022427 CA262147765 |
143 | N>S | No |
ClinGen TOPMed |
|
|
CA390065969 rs1594809456 |
145 | K>E | No |
ClinGen Ensembl |
|
|
CA390065978 rs1252542982 |
146 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757886945 CA7209953 |
148 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1288077179 CA390065999 |
149 | L>F | No |
ClinGen gnomAD |
|
|
rs779531874 CA7209954 |
153 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA262147768 rs982268931 |
156 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390066058 rs1358979176 |
158 | G>C | No |
ClinGen TOPMed |
|
|
CA390066071 rs1210983768 |
158 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390066056 rs1358979176 |
158 | G>S | No |
ClinGen TOPMed |
|
|
CA262147794 rs921668115 |
159 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761569279 CA7209962 |
159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262232132 CA390066078 |
160 | C>R | No |
ClinGen TOPMed |
|
|
rs1314329596 CA390066086 |
161 | L>V | No |
ClinGen gnomAD |
|
|
CA262147795 rs1048719770 |
162 | D>G | No |
ClinGen TOPMed |
|
|
CA390066102 rs1172293459 |
163 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390066101 rs1172293459 |
163 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1221637773 CA390066105 |
164 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs972806 CA262147796 |
164 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7209964 rs972806 |
164 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390066110 rs1415682116 |
165 | E>K | No |
ClinGen gnomAD |
|
|
CA390066143 rs1224823196 |
169 | R>I | No |
ClinGen TOPMed |
|
|
rs1277973435 CA390066160 |
171 | N>K | No |
ClinGen TOPMed |
|
|
rs1306503257 CA390066158 |
171 | N>S | No |
ClinGen TOPMed |
|
|
rs1334255248 CA390066174 |
174 | G>R | No |
ClinGen gnomAD |
|
|
rs762819992 CA7209965 |
175 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA390066184 rs1439595898 |
175 | N>S | No |
ClinGen gnomAD |
|
|
rs1233353961 CA390066200 |
177 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390066199 rs1377320432 |
177 | I>R | No |
ClinGen gnomAD |
|
|
CA7209966 rs765812434 |
178 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1301889918 CA390066219 |
180 | F>Y | No |
ClinGen TOPMed |
|
|
rs757727700 CA7209971 |
182 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262148412 rs144797420 |
184 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390066566 rs1201189413 |
185 | N>K | No |
ClinGen TOPMed |
|
|
rs1258942479 CA390066598 |
187 | T>S | No |
ClinGen gnomAD |
|
|
CA390066628 rs1334443520 |
191 | C>S | No |
ClinGen gnomAD |
|
|
rs1254092279 CA390066652 |
192 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 194 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950643152 CA262148413 |
197 | L>V | No |
ClinGen gnomAD |
|
|
CA390066735 rs1292501519 |
199 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390066805 rs1193066426 |
204 | T>A | No |
ClinGen gnomAD |
|
|
CA262148414 rs777406097 |
205 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390066822 rs1476548504 |
206 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA262148415 rs990573993 |
212 | N>S | No |
ClinGen TOPMed |
|
|
rs1189126329 CA614576011 |
213 | Y>* | No |
ClinGen gnomAD |
|
|
rs1161199838 CA390066892 |
215 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390066890 rs1161199838 |
215 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA262148416 rs914985873 |
216 | H>Q | No |
ClinGen TOPMed |
|
|
CA7209974 rs758905184 |
217 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390066919 rs1405788163 |
219 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390066939 rs570780596 |
222 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA262148417 rs570780596 |
222 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs554122314 CA262148418 |
223 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1401845534 CA390066967 |
224 | L>P | No |
ClinGen gnomAD |
|
|
rs1042037392 CA262148419 |
226 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1471657000 CA390067025 |
228 | D>V | No |
ClinGen TOPMed |
|
|
rs1161957088 CA390067016 |
228 | D>Y | No |
ClinGen TOPMed |
|
|
CA262148420 rs923883015 |
232 | V>M | No |
ClinGen TOPMed |
|
|
rs1278928224 CA390067153 |
238 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs553515353 CA390067170 |
239 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs553515353 CA262148421 |
239 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390064983 rs1204716698 |
245 | A>E | No |
ClinGen gnomAD |
|
|
CA262149064 rs1046721643 |
246 | M>I | No |
ClinGen Ensembl |
|
|
rs772925010 CA7209981 |
246 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390065052 rs1374898560 |
249 | I>L | No |
ClinGen gnomAD |
|
| rs752960648 | 249 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762946871 CA7209983 |
251 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569858296 CA262149065 |
251 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390065087 rs1165243601 |
251 | Y>N | No |
ClinGen TOPMed |
|
|
rs1238701206 CA390065135 |
253 | N>H | No |
ClinGen gnomAD |
|
|
rs535168979 CA262149067 |
255 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs770890081 CA7209984 |
255 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899566972 CA262149068 |
256 | I>T | No |
ClinGen gnomAD |
|
|
rs927624029 CA262149069 |
259 | L>P | No |
ClinGen TOPMed |
|
|
CA7209985 rs773780768 |
260 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA390065206 rs1484970824 |
260 | Q>R | No |
ClinGen TOPMed |
|
|
CA390065215 rs1267554013 |
261 | R>S | No |
ClinGen TOPMed |
|
|
rs1377536138 CA390065222 |
262 | H>L | No |
ClinGen Ensembl |
|
|
CA390065245 rs1214609562 |
265 | E>D | No |
ClinGen TOPMed |
|
|
CA262149071 rs1001119131 |
272 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390065292 rs1271074992 |
272 | D>Y | No |
ClinGen TOPMed |
|
|
CA262149072 rs990789384 |
273 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390065297 rs990789384 |
273 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA390065349 rs915123193 |
279 | K>N | No |
ClinGen TOPMed |
|
|
CA262149075 rs552305103 |
280 | L>V | No |
ClinGen 1000Genomes |
|
|
CA262149076 rs193121855 |
282 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7209987 rs766896917 |
283 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA390065370 rs1159160330 |
283 | E>K | No |
ClinGen gnomAD |
|
|
CA390065375 rs1394467376 |
283 | E>V | No |
ClinGen gnomAD |
|
|
CA7209988 rs752419577 |
284 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009522324 CA262149077 |
284 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs534355184 CA7209989 |
285 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373988249 CA390065380 |
285 | V>I | No |
ClinGen TOPMed |
|
|
rs552910387 CA262149078 |
287 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
rs971412645 CA262149079 |
291 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390065467 rs1469232734 |
293 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA262150490 rs144099820 |
295 | L>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390068436 rs1252229487 |
295 | L>F | No |
ClinGen gnomAD |
|
|
CA390068456 rs759030067 |
297 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759030067 CA7209993 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262150491 rs949509611 |
297 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1178267099 CA390068464 |
298 | E>* | No |
ClinGen gnomAD |
|
|
rs780582541 CA390068479 |
299 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA262150492 rs1045109836 |
299 | L>Q | No |
ClinGen Ensembl |
|
|
CA7209995 rs200385264 |
300 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200385264 CA390068486 |
300 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551403585 CA262150494 |
305 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs370100994 CA262150496 |
308 | G>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs954298872 CA262150497 |
309 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1366042243 CA390068653 |
312 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA262150498 rs548890947 |
316 | S>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA262150499 rs548890947 |
316 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390068729 rs1302640320 |
317 | K>E | No |
ClinGen gnomAD |
|
|
CA262150500 rs191503629 |
318 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390068779 rs1217547831 |
320 | D>E | No |
ClinGen gnomAD |
|
|
rs1255757688 CA390068785 |
321 | P>S | No |
ClinGen gnomAD |
|
|
CA390068796 rs1319563505 |
322 | E>* | No |
ClinGen gnomAD |
|
|
rs898037809 CA262150502 |
324 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 325 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487442354 CA390068855 |
326 | S>N | No |
ClinGen gnomAD |
|
|
CA390068859 rs1192825576 |
326 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA262150504 rs546101650 |
334 | P>T | No |
ClinGen gnomAD |
|
|
rs1210407002 CA390069093 |
339 | K>N | No |
ClinGen TOPMed |
|
|
rs1425974486 CA390069082 |
339 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 340 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017336259 CA262150507 |
342 | A>S | No |
ClinGen Ensembl |
|
|
CA262150508 rs941137715 |
343 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390069205 rs1472691784 |
349 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1459816564 CA390069247 |
352 | T>K | No |
ClinGen gnomAD |
|
|
rs1163765377 CA390069265 |
353 | F>L | No |
ClinGen gnomAD |
|
|
rs755112713 CA7209996 |
355 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390069298 CA390069299 rs1460260958 |
355 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs549942944 CA390069329 |
357 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA262150512 rs549942944 |
357 | K>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1039675596 CA262150598 |
361 | I>F | No |
ClinGen Ensembl |
|
|
rs1301892028 CA390069489 |
362 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759342957 CA7210005 |
363 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7210007 rs775070131 |
364 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1288131992 CA390069530 |
365 | Y>D | No |
ClinGen gnomAD |
|
|
CA390069553 rs1488652650 |
366 | H>L | No |
ClinGen gnomAD |
|
|
rs1209594650 CA390069567 |
367 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390069569 rs1209594650 |
367 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1483106011 CA390069598 |
369 | V>A | No |
ClinGen gnomAD |
|
|
CA262150599 rs1052891437 |
369 | V>I | No |
ClinGen Ensembl |
|
|
CA390069649 rs1235882223 |
372 | K>N | No |
ClinGen gnomAD |
|
|
rs1186766635 CA390069643 |
372 | K>R | No |
ClinGen gnomAD |
|
|
CA390069657 rs1484369443 |
373 | K>R | No |
ClinGen gnomAD |
|
|
CA7210008 rs760468567 |
374 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA262150600 rs994364784 |
375 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390069693 rs1438272327 |
376 | H>N | No |
ClinGen gnomAD |
|
|
CA262150601 rs545165091 |
377 | G>S | No |
ClinGen 1000Genomes |
|
|
CA390069734 rs1307018264 |
379 | L>W | No |
ClinGen TOPMed |
|
|
rs112619867 CA262150602 |
382 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 383 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357020437 CA390069812 |
385 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390069824 rs1375842954 |
386 | E>A | No |
ClinGen gnomAD |
|
|
rs1303103594 CA390069821 |
386 | E>Q | No |
ClinGen gnomAD |
|
|
rs1183045507 CA390069838 |
387 | L>* | No |
ClinGen TOPMed |
|
|
rs763822932 CA7210010 |
388 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1204012464 CA390069891 |
390 | V>A | No |
ClinGen TOPMed |
|
|
CA390069877 rs1218664986 |
390 | V>M | No |
ClinGen gnomAD |
|
|
rs200999753 CA262150605 |
391 | G>A | No |
ClinGen gnomAD |
|
|
CA390069898 rs200999753 |
391 | G>E | No |
ClinGen gnomAD |
|
|
CA390069938 rs1314124964 |
394 | H>Y | No |
ClinGen gnomAD |
|
|
CA390069968 rs1237856635 |
396 | E>* | No |
ClinGen gnomAD |
|
|
rs1237856635 CA390069969 |
396 | E>K | No |
ClinGen gnomAD |
|
|
rs891507599 CA262150606 |
399 | T>I | No |
ClinGen Ensembl |
|
|
CA262150607 rs1023388092 |
400 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1456713040 CA390070024 |
400 | R>Q | No |
ClinGen gnomAD |
|
|
rs1372467850 CA390070053 |
402 | D>E | No |
ClinGen gnomAD |
|
|
CA390070047 rs1180904313 |
402 | D>N | No |
ClinGen gnomAD |
|
|
rs750861245 CA7210012 |
404 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1225698826 CA390071064 |
407 | F>L | No |
ClinGen TOPMed |
|
|
rs1369792054 CA390071078 |
409 | Y>C | No |
ClinGen gnomAD |
|
|
rs752125877 CA7210016 |
412 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1302564229 CA390071104 |
413 | L>V | No |
ClinGen TOPMed |
|
|
rs1257589551 CA390071116 |
415 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390071117 rs1316311688 |
415 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1594891194 CA390071129 |
417 | C>R | No |
ClinGen Ensembl |
|
|
CA390071167 rs1200858241 |
422 | R>G | No |
ClinGen gnomAD |
|
|
CA7210018 rs546523861 |
425 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752762285 CA7210019 |
428 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752762285 CA390071210 |
428 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390071218 rs1461282011 |
430 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 430 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390071226 rs1478724136 |
431 | V>L | No |
ClinGen gnomAD |
|
|
rs35533709 CA7210020 |
433 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175476030 CA390071243 |
433 | R>H | No |
ClinGen TOPMed |
|
|
CA390071253 rs1452448716 |
435 | I>F | No |
ClinGen TOPMed |
|
|
rs1594891329 CA390071256 |
435 | I>N | No |
ClinGen Ensembl |
|
|
CA390071288 rs751340012 |
439 | N>K | No |
ClinGen Ensembl |
|
|
rs1476650602 CA390071292 |
440 | R>C | No |
ClinGen gnomAD |
|
|
rs148639569 CA7210021 |
440 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1458867317 CA390071310 |
443 | R>T | No |
ClinGen TOPMed |
|
|
rs540796366 CA390071324 |
445 | K>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs547564143 CA390071322 |
445 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs547564143 CA262151148 |
445 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1404603402 CA390071334 |
447 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1404603402 CA390071335 |
447 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390071342 rs1321495166 |
448 | E>K | No |
ClinGen gnomAD |
|
|
CA262151151 rs866668139 |
451 | Q>* | No |
ClinGen Ensembl |
|
|
CA390071371 rs1237166848 |
451 | Q>H | No |
ClinGen TOPMed |
|
|
CA390071386 rs1351550962 |
453 | F>C | No |
ClinGen gnomAD |
|
|
CA390071402 rs1594891482 |
455 | E>D | No |
ClinGen Ensembl |
|
|
rs1346267150 CA390071396 |
455 | E>K | No |
ClinGen TOPMed |
|
|
rs1437208490 CA390071405 |
456 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749470965 CA7210022 |
458 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749470965 CA262151152 |
458 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA390071432 rs1338656593 |
459 | M>I | No |
ClinGen gnomAD |
|
|
rs986449239 CA262151153 |
459 | M>T | No |
ClinGen Ensembl |
|
|
CA390071437 rs1220657210 |
460 | H>P | No |
ClinGen gnomAD |
|
|
rs1277727045 CA390071456 |
463 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA262151180 rs755770316 |
464 | S>N | No |
ClinGen gnomAD |
|
|
rs1016034899 CA262151181 CA390071479 |
464 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191655322 CA390071480 |
465 | Y>N | No |
ClinGen gnomAD |
|
|
rs1297545666 CA390071485 |
465 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs941311710 CA262151182 |
466 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA262151183 rs151094577 |
466 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA262151184 rs897606893 |
467 | R>K | No |
ClinGen Ensembl |
|
|
rs1319221441 CA390071513 |
470 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390071536 rs993227792 |
473 | F>S | No |
ClinGen gnomAD |
|
|
CA262151185 rs993227792 |
473 | F>Y | No |
ClinGen gnomAD |
|
|
rs1286351320 CA390071541 |
474 | Y>H | No |
ClinGen gnomAD |
|
|
CA390071552 rs1357627168 |
475 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390071611 rs1192630614 |
484 | K>E | No |
ClinGen TOPMed |
|
|
rs745819140 CA7210026 CA7210027 |
485 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564374810 CA7210025 |
485 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390071627 rs1218250007 |
486 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 487 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7210028 rs533127691 |
491 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390071681 rs1594892594 |
494 | G>V | No |
ClinGen Ensembl |
|
|
rs1441506962 CA390071691 |
495 | F>L | No |
ClinGen gnomAD |
|
|
CA262151187 rs918462186 |
501 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 501 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390071744 CA390071743 rs1185093236 |
502 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1239676799 CA390072654 |
503 | L>R | No |
ClinGen TOPMed |
|
|
CA262151903 rs533005087 |
504 | P>A | No |
ClinGen 1000Genomes |
|
|
CA262151904 rs1057169931 |
506 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390072693 rs768243672 |
509 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768243672 CA7210030 |
509 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044742913 CA262151905 |
511 | I>V | No |
ClinGen Ensembl |
|
|
CA390072723 rs1441494025 |
514 | N>S | No |
ClinGen gnomAD |
|
|
CA262151906 rs904966580 |
516 | L>R | No |
ClinGen Ensembl |
|
|
CA390072769 rs1377112389 |
520 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390072778 rs1464652343 |
522 | P>S | No |
ClinGen gnomAD |
|
|
CA390072795 rs1174522028 |
524 | I>T | No |
ClinGen gnomAD |
|
|
CA262151907 rs948711326 |
525 | E>G | No |
ClinGen TOPMed |
|
|
CA390072798 rs1282315631 |
525 | E>K | No |
ClinGen TOPMed |
|
|
CA262151908 rs970143570 |
526 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1465371174 CA390072819 |
528 | Q>* | No |
ClinGen gnomAD |
|
|
CA7210033 rs761318860 |
535 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1313450212 CA390072946 |
544 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390072963 rs1284730710 |
547 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390072962 rs1284730710 |
547 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1293450748 CA390073049 |
549 | L>F | No |
ClinGen gnomAD |
|
|
rs1384506308 CA390073110 |
554 | V>I | No |
ClinGen gnomAD |
|
|
CA390073143 rs758242624 |
556 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA262152165 rs758242624 |
556 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390073139 rs1304455623 |
556 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390073167 rs1217604683 |
558 | Q>R | No |
ClinGen gnomAD |
|
|
CA390073209 rs1170191772 |
561 | Q>R | No |
ClinGen TOPMed |
|
|
CA390073222 rs564959995 |
562 | A>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA262152166 rs564959995 |
562 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA390073250 rs1487473538 |
564 | E>V | No |
ClinGen gnomAD |
|
|
CA390073274 rs1389403316 |
566 | E>* | No |
ClinGen TOPMed |
|
|
CA390073293 rs1224761124 |
567 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA262152167 rs368800713 |
567 | S>T | No |
ClinGen TOPMed |
|
|
CA390073291 rs1224761124 |
567 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1244692384 CA390073325 |
570 | Q>E | No |
ClinGen TOPMed |
|
|
CA390073361 rs1191763665 |
572 | N>K | No |
ClinGen gnomAD |
|
|
CA262152168 rs1047917910 |
572 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs908018345 CA262152169 |
573 | Y>* | No |
ClinGen Ensembl |
|
|
rs1594922500 CA390073371 |
573 | Y>C | No |
ClinGen Ensembl |
|
|
rs944965028 CA262152170 |
575 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA262152171 rs913795023 |
577 | N>I | No |
ClinGen TOPMed |
|
|
CA390073425 rs913795023 |
577 | N>S | No |
ClinGen TOPMed |
|
|
rs767991740 CA390073444 |
579 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7210038 rs767991740 |
579 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164532099 CA390073479 |
581 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390073498 rs1459928173 |
583 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7210040 rs756215389 |
583 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459928173 CA390073500 |
583 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA390073621 rs1486327764 |
591 | M>I | No |
ClinGen gnomAD |
|
|
rs957766775 CA262152240 |
592 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7210044 rs778831452 |
593 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs745634659 CA7210045 |
594 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA390073653 rs1164763176 |
596 | C>Y | No |
ClinGen gnomAD |
|
|
CA390073690 rs1441940807 |
601 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1010569674 CA262152241 |
601 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA262152242 rs952024640 |
602 | Q>* | No |
ClinGen gnomAD |
|
|
CA262152243 rs983516032 |
603 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1405416340 CA390073701 |
603 | C>Y | No |
ClinGen TOPMed |
|
|
rs1376682392 CA390073708 |
604 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390073707 rs1376682392 |
604 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390073715 rs1454437077 |
605 | W>R | No |
ClinGen gnomAD |
|
|
CA262152244 rs966369280 |
606 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390073748 rs1409951656 |
609 | D>G | No |
ClinGen TOPMed |
|
|
rs907997074 CA262152245 |
609 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390073755 rs1237984459 |
610 | H>R | No |
ClinGen gnomAD |
|
|
rs1286465403 CA390073767 |
612 | L>I | No |
ClinGen gnomAD |
|
|
CA390073768 rs1286465403 |
612 | L>V | No |
ClinGen gnomAD |
|
|
rs1472996613 CA390073783 |
614 | L>S | No |
ClinGen TOPMed |
|
|
rs780174799 CA390073789 |
615 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780174799 CA7210048 |
615 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390073798 rs1248139288 |
616 | E>D | No |
ClinGen TOPMed |
|
|
CA390073807 rs1462935491 |
618 | V>I | No |
ClinGen gnomAD |
|
|
rs932231735 CA262152246 |
620 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 620 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776217969 CA7210051 |
620 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1438409216 CA390073830 |
621 | F>S | No |
ClinGen gnomAD |
|
|
rs945666396 CA262152248 |
623 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7210052 rs747901731 |
623 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262152626 rs891423447 |
627 | V>D | No |
ClinGen TOPMed |
|
|
CA390073880 rs1566841749 |
627 | V>I | No |
ClinGen Ensembl |
|
|
rs34896205 CA7210057 |
629 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34896205 CA390073894 |
629 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390073898 rs1481229634 |
630 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA262152628 rs979642037 |
633 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390073925 rs1298004795 |
634 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 634 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449204372 CA390073940 |
636 | F>S | No |
ClinGen TOPMed |
|
|
rs35255326 CA390073944 |
637 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35255326 CA7210058 |
637 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142277567 CA7210059 |
638 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390073954 rs1330236984 |
638 | N>S | No |
ClinGen gnomAD |
|
|
CA262152629 rs375419266 |
639 | V>D | No |
ClinGen Ensembl |
|
|
rs1435779051 CA390073984 |
643 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390073983 rs1435779051 |
643 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7210060 rs753854723 |
644 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA390073996 rs1160476199 |
644 | S>R | No |
ClinGen TOPMed |
|
| rs769178849 | 647 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757554756 CA7210062 |
647 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262152630 rs550368228 |
647 | N>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs973861338 CA262152631 |
648 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765352697 CA7210063 |
649 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA262152632 rs781666100 |
650 | V>I | No |
ClinGen Ensembl |
|
|
CA262152633 rs949149811 |
652 | V>I | No |
ClinGen gnomAD |
|
|
rs1044911584 CA262152634 |
655 | K>E | No |
ClinGen gnomAD |
|
|
rs1488548594 CA390074069 |
656 | D>N | No |
ClinGen TOPMed |
|
|
rs17096797 CA262152635 |
659 | F>C | No |
ClinGen Ensembl |
|
|
CA390074105 rs1274248240 |
660 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1451557302 CA390074117 |
662 | E>Q | No |
ClinGen gnomAD |
|
|
CA390074123 rs1220133641 |
663 | V>I | No |
ClinGen gnomAD |
|
|
rs1490710788 CA390074132 |
664 | I>T | No |
ClinGen gnomAD |
|
|
rs190840783 CA7210064 |
664 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 665 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199683183 CA390074150 |
666 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1381797918 CA390074156 |
667 | E>G | No |
ClinGen TOPMed |
|
|
CA390074153 rs1422560409 |
667 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390074195 rs1169446044 |
673 | R>* | No |
ClinGen gnomAD |
|
|
CA7210065 rs146803145 |
673 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs941968746 CA262152636 |
674 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390074198 rs1474743749 |
674 | P>T | No |
ClinGen gnomAD |
|
|
CA390074206 rs1417927686 |
675 | K>T | No |
ClinGen TOPMed |
|
|
rs1344628721 CA390074222 |
677 | I>M | No |
ClinGen TOPMed |
|
|
rs1161641936 CA390074228 |
678 | S>N | No |
ClinGen gnomAD |
|
|
CA390074242 rs748301647 |
680 | D>G | No |
ClinGen gnomAD |
|
|
CA262152637 rs748301647 |
680 | D>V | No |
ClinGen gnomAD |
|
|
rs140624304 CA262152638 |
683 | T>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390074288 rs1356140298 |
685 | L>I | No |
ClinGen gnomAD |
|
|
rs994206518 CA262152640 |
688 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA262152641 rs1047504428 |
689 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 690 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262152642 rs891246267 |
690 | T>P | No |
ClinGen Ensembl |
|
|
rs1044541281 CA262152643 |
691 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA262152645 rs199739720 |
692 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA390074393 rs1487682996 |
694 | S>G | No |
ClinGen TOPMed |
|
|
CA390074396 rs1195015408 |
694 | S>N | No |
ClinGen gnomAD |
|
|
CA7210068 rs779939587 |
696 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390074438 rs1319498358 |
697 | V>A | No |
ClinGen TOPMed |
|
|
rs1181671665 CA390074434 |
697 | V>L | No |
ClinGen gnomAD |
|
|
rs1206507651 CA390074933 |
706 | L>F | No |
ClinGen gnomAD |
|
|
CA390074945 rs1284598265 |
708 | K>E | No |
ClinGen gnomAD |
|
|
rs1594942741 CA390074986 |
714 | K>E | No |
ClinGen Ensembl |
|
|
CA7210077 rs77067896 |
715 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA262152906 rs763272988 |
716 | T>R | No |
ClinGen Ensembl |
|
|
rs761238057 CA7210078 |
718 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs769138600 CA262152907 |
719 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262152908 rs554146166 |
719 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7210080 rs776819732 |
725 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA262152909 rs908155807 |
725 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs966686890 CA262152910 |
727 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 727 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362111731 CA390075076 |
728 | F>L | No |
ClinGen gnomAD |
|
|
rs1471231598 CA390075086 |
729 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1159363695 CA390075092 |
730 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA390075099 rs1401776917 |
731 | L>* | No |
ClinGen gnomAD |
|
|
rs1355598297 CA390075114 |
733 | D>Y | No |
ClinGen TOPMed |
|
|
CA7210081 rs761766498 |
735 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1407433132 CA390075140 |
736 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390075143 rs1446663183 |
737 | L>W | No |
ClinGen gnomAD |
|
|
rs1594981163 CA390075331 |
739 | N>T | No |
ClinGen Ensembl |
|
|
CA262154225 rs906346970 |
741 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 741 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237293783 CA390075342 |
741 | E>K | No |
ClinGen TOPMed |
|
|
CA390075354 rs1594981213 |
742 | Y>F | No |
ClinGen Ensembl |
|
|
rs1594981250 CA390075361 |
743 | L>W | No |
ClinGen Ensembl |
|
|
CA7210085 rs72718038 |
745 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399271589 CA390075387 |
747 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA390075401 rs1002889365 |
749 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA262154227 rs1002889365 |
749 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390075431 rs1221280539 |
753 | L>R | No |
ClinGen gnomAD |
|
|
CA262154228 rs894509201 |
753 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390075432 rs1168618106 |
754 | E>K | No |
ClinGen gnomAD |
|
|
rs1226430004 CA390075443 |
755 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 756 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249488471 CA390075454 |
757 | R>G | No |
ClinGen gnomAD |
|
|
rs1341415603 CA390075458 |
757 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA262154229 rs1011577375 |
758 | G>S | No |
ClinGen TOPMed |
|
|
CA390075470 rs1196414547 |
759 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1489895392 CA390075476 |
760 | M>I | No |
ClinGen gnomAD |
|
|
CA7210087 rs547247961 |
760 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 764 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201847128 CA390075502 |
764 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1269958417 CA390075517 |
766 | D>H | No |
ClinGen gnomAD |
|
|
rs1269958417 CA390075515 |
766 | D>N | No |
ClinGen gnomAD |
|
|
rs1269958417 CA390075516 |
766 | D>Y | No |
ClinGen gnomAD |
|
|
CA262154230 rs958676614 |
767 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1168799626 CA390075541 |
768 | S>G | No |
ClinGen gnomAD |
|
|
CA7210088 rs542511484 |
768 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7210089 rs752643125 |
769 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA390075569 CA390075568 rs1408741884 |
769 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 771 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 772 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364392114 CA390075648 |
774 | K>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 776 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304508320 CA390075692 |
777 | N>S | No |
ClinGen gnomAD |
|
|
CA390075772 rs1381394652 |
782 | L>F | No |
ClinGen gnomAD |
|
|
rs951617023 CA262154233 |
782 | L>S | No |
ClinGen Ensembl |
|
|
rs1309083767 CA390075787 |
783 | C>* | No |
ClinGen gnomAD |
|
|
CA390075776 rs1293215107 |
783 | C>R | No |
ClinGen gnomAD |
|
|
CA390075858 rs1228042569 |
788 | S>R | No |
ClinGen gnomAD |
|
|
rs1291026290 CA390075873 |
790 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1357367973 CA390075910 |
793 | D>V | No |
ClinGen gnomAD |
|
|
CA262154234 rs983314638 |
794 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390075948 rs182949505 |
796 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182949505 CA7210091 |
796 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752398420 CA262154235 |
797 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1264273778 CA390075975 |
797 | N>S | No |
ClinGen gnomAD |
|
|
rs1187454014 CA390075997 |
799 | W>R | No |
ClinGen gnomAD |
|
|
CA262154236 rs536036183 |
800 | Q>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA390076853 rs1203445736 |
802 | P>L | No |
ClinGen gnomAD |
|
|
rs1417977413 CA390076844 |
802 | P>S | No |
ClinGen TOPMed |
|
|
rs927710181 CA262154344 |
803 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1184794590 CA390076892 |
805 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs990668758 CA262154347 |
810 | I>M | No |
ClinGen Ensembl |
|
|
CA262154346 rs1030769083 |
810 | I>T | No |
ClinGen TOPMed |
|
|
rs920447755 CA262154348 |
812 | R>S | No |
ClinGen gnomAD |
|
|
CA7210098 rs747352165 |
815 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769245413 CA7210099 |
815 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777033789 CA7210100 |
816 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA390077067 rs1335873214 |
817 | T>S | No |
ClinGen gnomAD |
|
|
rs1190824651 CA390077103 |
819 | L>S | No |
ClinGen TOPMed |
|
|
CA262154349 rs930447880 |
820 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 821 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485271166 CA390077128 |
821 | G>R | No |
ClinGen TOPMed |
|
|
CA390077154 rs1222952276 |
823 | F>L | No |
ClinGen TOPMed |
|
|
CA390077174 rs1173968612 |
824 | I>N | No |
ClinGen gnomAD |
|
|
rs1173968612 CA390077177 |
824 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 825 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454486995 CA390077247 |
828 | E>D | No |
ClinGen gnomAD |
|
|
rs1594986059 CA390077256 |
829 | A>G | No |
ClinGen Ensembl |
|
|
CA390077252 rs1271639877 |
829 | A>T | No |
ClinGen TOPMed |
|
|
CA262154350 rs956148651 |
831 | A>E | No |
ClinGen TOPMed |
|
|
rs976793085 CA262154352 |
833 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1594986141 CA390077389 |
838 | G>E | No |
ClinGen Ensembl |
|
|
CA390077404 rs907748008 |
839 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA262154353 rs907748008 |
839 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA262154354 rs940026348 |
842 | T>I | No |
ClinGen TOPMed |
|
|
rs1317769496 CA390077460 |
843 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751444228 CA7210107 CA390077634 |
844 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375121707 CA390077638 |
845 | S>P | No |
ClinGen TOPMed |
|
|
rs116438081 CA7210108 |
846 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390077651 rs116438081 |
846 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272855354 CA390077661 |
847 | L>V | No |
ClinGen gnomAD |
|
|
rs746827730 CA7210109 |
848 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262154615 rs779783548 |
848 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 850 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437188447 CA390077712 |
851 | S>C | No |
ClinGen TOPMed |
|
|
CA390077786 rs1483128145 |
856 | R>* | No |
ClinGen gnomAD |
|
|
CA262154616 rs962562695 |
857 | P>T | No |
ClinGen Ensembl |
|
|
rs1410473447 CA390077819 |
858 | R>Q | No |
ClinGen TOPMed |
|
|
CA390077816 rs1449368445 |
858 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1180034838 CA390077827 |
859 | I>V | No |
ClinGen TOPMed |
|
|
rs1482774134 CA390077840 |
860 | L>F | No |
ClinGen TOPMed |
|
|
rs1030546601 CA262154618 |
861 | S>N | No |
ClinGen Ensembl |
|
|
CA390077875 rs1482261801 |
862 | I>T | No |
ClinGen TOPMed |
|
|
CA390077882 rs1198232843 |
863 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 865 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390077972 rs1266335792 |
870 | T>A | No |
ClinGen gnomAD |
|
|
rs115819353 CA7210110 |
870 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115819353 CA262154620 |
870 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390077979 rs115819353 |
870 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768381354 CA7210111 |
871 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172507194 CA390077992 |
871 | Q>H | No |
ClinGen gnomAD |
|
|
CA7210112 rs777211541 |
871 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262154621 rs910248300 |
872 | V>I | No |
ClinGen Ensembl |
|
|
CA7210113 rs753333039 |
873 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA390078017 rs1404487440 |
873 | S>L | No |
ClinGen gnomAD |
|
|
rs1301458382 CA390078057 |
876 | G>E | No |
ClinGen gnomAD |
|
|
CA390078069 rs1410187159 |
877 | P>L | No |
ClinGen gnomAD |
|
|
CA390078060 rs1294650997 |
877 | P>T | No |
ClinGen TOPMed |
|
|
rs1405884898 CA390078070 |
878 | H>N | No |
ClinGen gnomAD |
|
|
CA390078072 rs1405884898 |
878 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA262154622 rs947066643 |
881 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 882 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360368787 CA390078150 |
883 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1216815184 CA390078168 |
884 | N>S | No |
ClinGen gnomAD |
|
|
CA7210115 rs778505346 |
886 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221108181 CA390078224 |
888 | K>Q | No |
ClinGen gnomAD |
|
|
rs1271224769 CA390078681 |
890 | T>I | No |
ClinGen gnomAD |
|
|
CA7210122 rs749351919 |
895 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390078765 rs1196045032 |
899 | L>F | No |
ClinGen TOPMed |
|
|
CA390078773 rs1244549926 |
900 | F>S | No |
ClinGen gnomAD |
|
|
rs965065955 CA262154787 |
905 | L>S | No |
ClinGen Ensembl |
|
|
rs958476712 CA262154788 |
907 | K>Q | No |
ClinGen TOPMed |
|
|
rs1361036577 CA390078829 |
908 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 909 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272884015 CA390078871 |
913 | W>* | No |
ClinGen TOPMed |
|
|
rs1217696610 CA390078903 |
918 | N>D | No |
ClinGen gnomAD |
|
|
rs537645504 CA262154790 |
920 | N>H | No |
ClinGen 1000Genomes |
|
|
rs559154193 CA262154791 |
920 | N>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7210123 rs771098830 |
924 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs936188494 CA262154793 |
924 | M>R | No |
ClinGen TOPMed |
|
|
rs1181727184 CA390078945 |
924 | M>V | No |
ClinGen gnomAD |
|
|
CA262154795 CA262154794 rs201490710 |
925 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1053665451 CA262154796 |
926 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1411539221 CA390078965 |
927 | L>P | No |
ClinGen TOPMed |
|
|
CA390078978 rs1383090945 |
929 | S>Y | No |
ClinGen gnomAD |
|
|
rs1402750789 CA390078982 |
930 | C>R | No |
ClinGen gnomAD |
|
|
CA390078993 rs1348578834 |
931 | I>T | No |
ClinGen TOPMed |
|
|
CA390079007 rs1566867293 |
933 | L>S | No |
ClinGen Ensembl |
|
|
rs774739009 CA7210125 |
934 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs577284100 CA7210126 |
935 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1339340187 CA390079028 |
936 | L>H | No |
ClinGen gnomAD |
|
|
rs1327869635 CA390079045 |
939 | D>Y | No |
ClinGen TOPMed |
|
|
CA262154797 rs913505121 |
942 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1211599803 CA390079079 |
943 | I>L | No |
ClinGen gnomAD |
|
|
CA390079111 rs1348130176 |
944 | S>L | No |
ClinGen gnomAD |
|
|
rs1170436451 CA390079145 |
946 | I>M | No |
ClinGen TOPMed |
|
|
rs977454607 CA262154798 |
946 | I>T | No |
ClinGen TOPMed |
|
|
CA262154800 rs541488748 |
948 | G>S | No |
ClinGen 1000Genomes |
|
|
rs927882400 CA262155054 |
949 | I>M | No |
ClinGen Ensembl |
|
|
CA262155056 rs200037959 |
952 | M>I | No |
ClinGen TOPMed |
|
|
rs937964446 CA262155055 |
952 | M>T | No |
ClinGen Ensembl |
|
|
rs760583614 CA7210129 |
953 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7210130 rs764069892 |
957 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288658851 CA390079493 |
957 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1288658851 CA390079495 |
957 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390079555 rs1418614357 |
963 | N>S | No |
ClinGen Ensembl |
|
|
CA262155057 rs915945740 |
964 | L>H | No |
ClinGen Ensembl |
|
|
rs369532927 CA262155058 |
966 | T>A | No |
ClinGen Ensembl |
|
|
CA262155059 rs1048465807 |
971 | H>R | No |
ClinGen Ensembl |
|
|
rs774328450 CA262155060 |
972 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7210132 rs774328450 |
972 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940205395 CA390079689 |
981 | S>* | No |
ClinGen gnomAD |
|
|
rs940205395 CA262155061 |
981 | S>L | No |
ClinGen gnomAD |
|
|
CA390079700 rs1479628910 |
982 | L>F | No |
ClinGen gnomAD |
|
|
rs1566869843 CA390079716 |
983 | S>F | No |
ClinGen Ensembl |
|
|
rs148486908 CA7210134 |
984 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1367899187 CA390079755 |
986 | N>S | No |
ClinGen TOPMed |
|
|
CA390079785 rs1378680719 |
988 | R>T | No |
ClinGen gnomAD |
|
|
rs1429230086 CA390079801 |
989 | I>N | No |
ClinGen gnomAD |
|
|
CA262155062 rs533818608 |
989 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1595006921 CA390079841 |
992 | L>S | No |
ClinGen Ensembl |
|
|
CA390079978 rs1169736010 |
1002 | V>A | No |
ClinGen TOPMed |
|
|
rs1393682937 CA390079974 |
1002 | V>F | No |
ClinGen gnomAD |
|
|
rs1308196069 CA390079996 |
1003 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1028991918 CA262155065 |
1003 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7210136 rs758066185 |
1004 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1005 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573865799 CA7210137 |
1006 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1010544754 CA262155066 |
1007 | S>N | No |
ClinGen gnomAD |
|
|
CA390080060 rs1249613353 |
1008 | N>I | No |
ClinGen gnomAD |
|
|
rs1344328825 CA390080069 |
1009 | N>D | No |
ClinGen gnomAD |
|
|
rs1205974967 CA390080077 |
1009 | N>S | No |
ClinGen gnomAD |
|
|
CA390080089 rs1291254458 |
1010 | Y>H | No |
ClinGen gnomAD |
|
|
rs201323289 CA262155069 |
1011 | I>V | No |
ClinGen TOPMed |
|
|
rs1201919167 CA390080122 |
1012 | A>V | No |
ClinGen gnomAD |
|
|
CA390080130 rs1438073719 |
1013 | V>A | No |
ClinGen TOPMed |
|
|
CA390080136 rs1595007211 |
1014 | N>Y | No |
ClinGen Ensembl |
|
|
rs1428357163 CA390080164 |
1016 | E>K | No |
ClinGen gnomAD |
|
|
CA390070669 rs1368701583 |
1022 | G>D | No |
ClinGen gnomAD |
|
|
CA7210143 rs771145991 |
1024 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1400355826 CA390070691 |
1024 | C>Y | No |
ClinGen TOPMed |
|
|
CA390070708 rs1362261771 |
1025 | N>S | No |
ClinGen TOPMed |
|
|
CA262155217 rs1047025780 |
1026 | L>F | No |
ClinGen TOPMed |
|
|
rs770126754 CA390070734 |
1027 | V>F | No |
ClinGen gnomAD |
|
|
rs770126754 CA262155218 |
1027 | V>I | No |
ClinGen gnomAD |
|
|
rs1435700016 CA390070773 |
1030 | D>G | No |
ClinGen gnomAD |
|
|
rs1422484296 CA390070797 |
1031 | M>I | No |
ClinGen gnomAD |
|
|
rs773577282 CA7210144 |
1032 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369610595 CA390070853 |
1037 | I>T | No |
ClinGen gnomAD |
|
|
CA7210145 rs35427175 |
1038 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390070857 rs1166298568 |
1038 | W>R | No |
ClinGen TOPMed |
|
|
rs535849353 CA262155219 |
1044 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390070905 rs535849353 |
1044 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7210147 rs535849353 |
1044 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572056072 CA7210146 |
1044 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390070912 rs1265837470 |
1045 | L>F | No |
ClinGen TOPMed |
|
|
CA390070917 rs1316584527 |
1046 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs978152921 CA262155220 |
1050 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1050 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465676618 CA390070989 |
1057 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390070995 rs1320046853 |
1058 | D>N | No |
ClinGen TOPMed |
|
|
CA390071003 rs1203581390 |
1059 | G>R | No |
ClinGen gnomAD |
|
|
rs1481956627 CA390071011 |
1060 | I>L | No |
ClinGen gnomAD |
|
|
CA7210149 rs763835968 |
1060 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1063 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566878636 CA390071769 |
1064 | P>L | No |
ClinGen Ensembl |
|
|
rs1423717979 CA390071775 |
1065 | S>L | No |
ClinGen TOPMed |
|
|
CA390071772 rs1314499083 |
1065 | S>T | No |
ClinGen gnomAD |
|
|
CA390071786 rs1256054015 |
1067 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1021463361 CA262156045 |
1068 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1179569599 CA390071809 |
1070 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1472765976 CA390071818 |
1071 | K>N | No |
ClinGen gnomAD |
|
|
CA390071834 rs1256644534 |
1074 | F>I | No |
ClinGen TOPMed |
|
|
rs1212367088 CA390071848 |
1076 | G>S | No |
ClinGen TOPMed |
|
|
rs966528352 CA262156047 |
1081 | D>E | No |
ClinGen TOPMed |
|
|
CA7210155 rs766027508 |
1081 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA390071885 rs1176777000 |
1082 | M>V | No |
ClinGen gnomAD |
|
|
CA7210156 rs751135426 |
1083 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911761107 CA262156048 |
1084 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs911761107 CA390071903 |
1084 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs897492166 CA262156049 |
1086 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390071913 rs897492166 |
1086 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA390071916 rs1351362202 |
1086 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA262156050 rs868755189 |
1087 | Q>H | No |
ClinGen Ensembl |
|
|
CA390071921 rs1281741611 |
1087 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1420904378 CA390071929 |
1088 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1088 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566878814 CA390071935 |
1089 | H>L | No |
ClinGen Ensembl |
|
|
CA7210158 rs778228816 |
1093 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390071975 rs1342280354 |
1095 | M>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1095 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262156053 rs920233880 |
1097 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs182848765 CA7210160 |
1097 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390072002 rs1221341380 |
1098 | L>R | No |
ClinGen gnomAD |
|
|
rs930320833 CA390071999 |
1098 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA262156055 rs535849415 |
1100 | W>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA390072015 rs535849415 |
1100 | W>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs983123770 CA262156056 |
1101 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1105 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775748818 CA262156232 |
1110 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1249253391 CA390072112 |
1113 | V>A | No |
ClinGen TOPMed |
|
|
CA262156234 rs1029203403 |
1114 | D>E | No |
ClinGen TOPMed |
|
|
rs1318030181 CA390072113 |
1114 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390072148 rs1386939434 |
1118 | N>S | No |
ClinGen gnomAD |
|
|
CA390072154 rs1387672146 |
1119 | V>E | No |
ClinGen gnomAD |
|
|
CA390072151 rs1232597884 |
1119 | V>M | No |
ClinGen TOPMed |
|
|
CA7210169 rs776407990 |
1120 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1321814658 CA390072174 |
1122 | V>L | No |
ClinGen gnomAD |
|
|
rs1321814658 CA390072172 |
1122 | V>M | No |
ClinGen gnomAD |
|
|
CA390072184 rs1347367463 |
1123 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1124 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322521440 CA390072197 |
1125 | Q>H | No |
ClinGen gnomAD |
|
|
rs1365288044 CA390072196 |
1125 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241497422 CA390072200 |
1126 | N>D | No |
ClinGen TOPMed |
|
|
CA262156235 rs953668124 |
1127 | N>K | No |
ClinGen TOPMed |
|
|
rs1244680749 CA390072231 |
1130 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA262156237 rs929865590 |
1136 | I>T | No |
ClinGen Ensembl |
|
|
CA262156239 rs151255023 |
1137 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA262156238 rs151255023 |
1137 | Y>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs909232640 CA262156240 |
1139 | P>L | No |
ClinGen TOPMed |
|
|
rs537463647 CA7210170 |
1141 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1047793903 CA262156241 |
1141 | V>M | No |
ClinGen Ensembl |
|
|
CA262156298 rs960093513 |
1145 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1002516118 TCGA novel CA262156299 |
1147 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7210176 rs751241134 |
1148 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390072382 rs1280759970 |
1151 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs915719224 CA262156300 |
1153 | S>* | No |
ClinGen TOPMed |
|
|
rs1181358056 CA390072408 |
1155 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1181358056 CA390072409 |
1155 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA262156301 rs958734447 |
1156 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1473764332 CA390072424 |
1157 | R>S | No |
ClinGen gnomAD |
|
|
CA262156302 rs968546836 |
1160 | P>L | No |
ClinGen TOPMed |
|
|
rs995264580 CA262156303 |
1162 | T>I | No |
ClinGen Ensembl |
|
|
rs759189737 CA7210177 |
1163 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868696673 CA262156304 |
1166 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA707335717 rs1374016160 |
1173 | K>R | No |
ClinGen TOPMed |
|
|
CA262156306 rs934629283 |
1177 | S>N | No |
ClinGen TOPMed |
|
|
CA7210178 rs764617965 |
1178 | G>V | No |
ClinGen ExAC |
|
|
CA390072579 rs1403632920 |
1181 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390072578 rs1403632920 |
1181 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1307007680 CA390072625 |
1187 | T>R | No |
ClinGen gnomAD |
|
|
rs951158970 CA262156307 |
1188 | N>K | No |
ClinGen gnomAD |
|
|
rs1411315278 CA390072637 |
1189 | R>I | No |
ClinGen gnomAD |
|
|
CA390072990 rs1227005741 |
1191 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1227005741 CA390072991 |
1191 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1350251857 CA390072988 |
1191 | I>V | No |
ClinGen gnomAD |
|
|
rs750854904 CA7210182 |
1192 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779530185 CA7210181 |
1192 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390073013 rs1227613294 |
1194 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390073044 rs1295432260 |
1196 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1344424435 CA390073075 |
1198 | P>L | No |
ClinGen gnomAD |
|
|
rs1229327420 CA390073095 |
1200 | I>V | No |
ClinGen gnomAD |
|
|
rs1265146986 CA390073114 |
1201 | M>T | No |
ClinGen gnomAD |
|
|
rs1487701126 CA390073125 |
1202 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA262156625 rs1051740786 |
1203 | S>N | No |
ClinGen Ensembl |
|
|
rs945097951 CA262156626 |
1210 | G>A | No |
ClinGen TOPMed |
|
|
CA390073251 rs945097951 |
1210 | G>V | No |
ClinGen TOPMed |
|
|
rs1212053055 CA390073280 |
1212 | N>I | No |
ClinGen gnomAD |
|
|
rs1212053055 CA390073277 |
1212 | N>S | No |
ClinGen gnomAD |
|
|
rs866073163 CA262156627 |
1213 | G>R | No |
ClinGen Ensembl |
|
|
CA262156629 rs891252450 |
1217 | L>* | No |
ClinGen TOPMed |
|
|
rs1203645971 CA390073385 |
1219 | Q>H | No |
ClinGen TOPMed |
|
|
CA390073419 rs1446883371 |
1222 | L>F | No |
ClinGen gnomAD |
|
|
rs944207266 CA262156630 |
1222 | L>P | No |
ClinGen TOPMed |
|
|
rs1566884403 CA390073447 |
1224 | R>T | No |
ClinGen Ensembl |
|
|
CA262156631 rs1039905991 |
1226 | R>I | No |
ClinGen TOPMed |
|
|
rs1387718262 CA390073517 |
1229 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1230 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900069879 CA262156632 |
1232 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758526295 CA7210183 |
1232 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA390073553 rs900069879 |
1232 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390073569 rs1454644310 |
1233 | L>P | No |
ClinGen TOPMed |
|
|
CA390073577 rs1312867369 |
1234 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390073578 rs1335935448 |
1234 | Q>P | No |
ClinGen TOPMed |
|
|
rs1335720840 CA390074272 |
1235 | G>D | No |
ClinGen TOPMed |
|
|
rs769542457 CA262157151 |
1236 | N>S | No |
ClinGen Ensembl |
|
|
CA262157153 rs1051451119 |
1238 | I>T | No |
ClinGen TOPMed |
|
|
CA390074329 rs1295354494 |
1239 | S>G | No |
ClinGen TOPMed |
|
|
CA390074376 rs1156837536 |
1242 | E>A | No |
ClinGen gnomAD |
|
|
rs1456570322 CA390074369 |
1242 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA262157154 rs553169928 |
1245 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs553169928 CA390074417 |
1245 | D>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390074465 rs1377093748 |
1249 | V>A | No |
ClinGen gnomAD |
|
|
CA390074461 rs1302293640 |
1249 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA262157155 rs967933971 |
1256 | D>N | No |
ClinGen Ensembl |
|
|
CA262157156 rs574543223 |
1259 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs183862335 CA7210186 |
1259 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390074534 rs183862335 |
1259 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7210187 rs368587449 |
1261 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs898226716 CA262157157 |
1261 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs898226716 CA390074544 |
1261 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA390074543 rs898226716 |
1261 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1330378320 CA390074546 |
1262 | S>P | No |
ClinGen gnomAD |
|
|
CA390074555 rs1430798475 |
1263 | F>C | No |
ClinGen TOPMed |
|
|
rs747908247 CA7210188 |
1263 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390074570 rs1260345059 |
1265 | D>G | No |
ClinGen TOPMed |
|
|
rs1254844987 CA390074575 |
1266 | S>G | No |
ClinGen gnomAD |
|
|
rs1481991904 CA390074577 |
1266 | S>N | No |
ClinGen gnomAD |
|
|
rs960245590 CA262157158 |
1267 | A>V | No |
ClinGen TOPMed |
|
|
CA390074604 rs1183232695 |
1270 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390074609 rs1257857802 |
1271 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1273 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472847780 CA390074670 |
1280 | E>K | No |
ClinGen gnomAD |
|
|
rs1175281471 CA390074687 |
1282 | N>D | No |
ClinGen gnomAD |
|
|
rs1467701623 CA390074707 |
1285 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs991156389 CA262157161 |
1285 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7210190 rs575375659 |
1286 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408270221 CA390074722 |
1288 | G>S | No |
ClinGen gnomAD |
|
|
CA7210191 rs762743373 |
1292 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1292 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390074758 rs1372957817 |
1293 | L>S | No |
ClinGen TOPMed |
|
|
rs939866021 CA262157166 |
1297 | E>D | No |
ClinGen TOPMed |
|
|
CA262157165 rs762607095 |
1297 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770481501 CA7210192 |
1301 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482498755 CA390074826 |
1303 | Y>* | No |
ClinGen gnomAD |
|
|
rs1280556729 CA390074824 |
1303 | Y>C | No |
ClinGen gnomAD |
|
|
CA390074830 rs1202612505 |
1304 | N>D | No |
ClinGen gnomAD |
|
|
rs1460029879 CA390074840 |
1305 | K>R | No |
ClinGen TOPMed |
|
|
CA262157167 rs765837026 |
1306 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1188510592 CA390074848 |
1306 | I>T | No |
ClinGen TOPMed |
|
|
CA262157559 rs943289031 |
1308 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA262157560 rs978202660 |
1309 | I>T | No |
ClinGen TOPMed |
|
|
CA390075173 rs1340856097 |
1310 | T>A | No |
ClinGen gnomAD |
|
|
rs1225728160 CA390075182 |
1311 | E>G | No |
ClinGen gnomAD |
|
|
rs1334323235 CA390075189 |
1312 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1314 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7210195 rs759317457 |
1315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390075210 rs1220610383 |
1315 | L>P | No |
ClinGen gnomAD |
|
|
CA390075222 rs1194200572 |
1317 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs567095269 CA262157561 |
1317 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754291602 CA390075228 |
1318 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7210197 rs754291602 |
1318 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1412570038 CA390075226 |
1318 | I>V | No |
ClinGen TOPMed |
|
|
CA262157562 rs921264721 |
1320 | T>A | No |
ClinGen TOPMed |
|
|
CA390075275 rs1170703443 |
1326 | V>M | No |
ClinGen gnomAD |
|
|
CA390075281 rs1462332991 |
1327 | Y>N | No |
ClinGen TOPMed |
|
|
CA7210198 rs762298676 |
1328 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA262157563 rs150081309 |
1330 | P>L | No |
ClinGen 1000Genomes |
|
|
CA7210199 rs77067680 |
1330 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188000714 CA7210200 |
1333 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA262159927 rs888923536 |
1338 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA262159926 rs888923536 |
1338 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7210201 rs758764289 |
1338 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA262159928 rs947325008 |
1339 | H>Q | No |
ClinGen gnomAD |
|
|
rs1474021170 CA390078416 |
1339 | H>Y | No |
ClinGen TOPMed |
|
|
CA390078428 rs1236263645 |
1340 | M>I | No |
ClinGen TOPMed |
|
|
CA390078440 rs1566911322 |
1342 | I>T | No |
ClinGen Ensembl |
|
|
CA262159929 rs950495333 |
1343 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390078451 rs1387149899 |
1344 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs993012687 CA262159930 |
1344 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1346 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1348 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446751092 CA390078495 |
1350 | M>I | No |
ClinGen gnomAD |
|
|
CA7210203 rs751571205 |
1355 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1358 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755233936 CA7210204 |
1359 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1381052569 CA390078554 |
1359 | D>H | No |
ClinGen gnomAD |
|
|
CA262159931 rs971319089 |
1361 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1361 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210532863 CA390078573 |
1362 | A>T | No |
ClinGen gnomAD |
|
|
rs1284974061 CA390078588 |
1364 | A>P | No |
ClinGen gnomAD |
|
|
rs1284974061 CA390078587 |
1364 | A>T | No |
ClinGen gnomAD |
|
|
rs1441918522 CA390078608 |
1366 | F>L | No |
ClinGen gnomAD |
|
|
rs1208269553 CA390078618 |
1368 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390078621 rs1239485781 |
1368 | L>P | No |
ClinGen gnomAD |
|
|
CA262159932 rs999918069 |
1369 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1031121888 CA262159933 |
1369 | A>V | No |
ClinGen Ensembl |
|
|
CA262159934 rs2042040 |
1370 | E>D | No |
ClinGen Ensembl |
|
|
rs1410245066 CA390078640 |
1372 | Q>E | No |
ClinGen gnomAD |
|
|
rs756166119 CA262159935 |
1373 | A>V | No |
ClinGen Ensembl |
|
|
rs1159659641 CA390078688 |
1375 | K>N | No |
ClinGen gnomAD |
|
|
CA390078683 rs1473825144 |
1375 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1375 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs95425 CA390078703 |
1376 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA262159936 rs1013653780 |
1377 | S>L | No |
ClinGen gnomAD |
|
|
rs147947458 CA262160413 |
1378 | L>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1261480566 CA390079753 |
1383 | H>Q | No |
ClinGen TOPMed |
|
|
rs1595130253 CA390079812 |
1388 | G>S | No |
ClinGen Ensembl |
|
|
CA390079835 rs1274411625 |
1389 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA262160414 rs962829059 |
1393 | Q>L | No |
ClinGen TOPMed |
|
|
rs760344143 CA7210216 |
1396 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760344143 CA390079924 |
1396 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915981824 CA262160415 |
1399 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
CA262160416 rs915981824 |
1399 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390079952 rs1187345949 |
1399 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390079972 rs1193461076 |
1400 | E>G | No |
ClinGen gnomAD |
|
|
CA7210217 rs77893491 |
1400 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338065177 CA390079992 |
1402 | T>A | No |
ClinGen TOPMed |
|
|
rs572429493 CA7210218 |
1402 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs908677210 CA262160417 |
1403 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1403 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390080030 rs1386944130 |
1405 | L>V | No |
ClinGen TOPMed |
|
|
CA262160419 rs940284765 |
1411 | S>N | No |
ClinGen Ensembl |
|
|
CA262160421 rs182279621 |
1412 | H>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs879444277 CA262160422 |
1413 | Y>N | No |
ClinGen Ensembl |
|
|
rs575100581 CA262160423 |
1415 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145337654 CA7210220 |
1418 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390080265 rs1312357724 |
1423 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA390080290 rs1192983125 |
1426 | E>* | No |
ClinGen TOPMed |
|
|
rs761576501 CA7210231 |
1432 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs778743283 | 1432 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390080824 rs1484456994 |
1433 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390080851 rs1372905281 |
1435 | Q>* | No |
ClinGen TOPMed |
|
|
rs1212595650 CA390080861 |
1435 | Q>H | No |
ClinGen gnomAD |
|
|
rs958426055 CA262160928 |
1436 | I>S | No |
ClinGen TOPMed |
|
|
CA7210233 rs745750506 |
1436 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262160930 rs973881468 |
1437 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390080878 rs973881468 |
1437 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1410131354 CA390080895 |
1438 | C>R | No |
ClinGen gnomAD |
|
|
CA262160931 rs563029514 |
1438 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 1441 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q6ZRR7
5 regional properties for Q6ZRR7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 358 - 366 | IPR000629 |
| domain | Helicase, C-terminal | 423 - 613 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 231 - 401 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 225 - 427 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 206 - 234 | IPR014014 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IYG6 | LRRC56 | Leucine-rich repeat-containing protein 56 | Homo sapiens (Human) | PR |
| Q96M69 | LRGUK | Leucine-rich repeat and guanylate kinase domain-containing protein | Homo sapiens (Human) | PR |
| Q9H069 | DRC3 | Dynein regulatory complex subunit 3 | Homo sapiens (Human) | PR |
| Q4LDG9 | DNAL1 | Dynein axonemal light chain 1 | Homo sapiens (Human) | PR |
| Q9DAP0 | Lrrc46 | Leucine-rich repeat-containing protein 46 | Mus musculus (Mouse) | PR |
| Q9D5S7 | Lrguk | Leucine-rich repeat and guanylate kinase domain-containing protein | Mus musculus (Mouse) | PR |
| Q6DIQ3 | ppp1r7 | Protein phosphatase 1 regulatory subunit 7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIESENLNQE | EIIKELCLCN | GLSYEMVGQE | GSDTSKLEMF | FLGYPRIVGL | SLFPNLTSLT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IVAQDIKEIS | GLEPCLQLKE | LWIAECCIEK | IEGLQECRNL | EKLYLYFNKI | SKIENLEKLI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLKVLWLNHN | TIKNIEGLQT | LKNLKDLNLA | GNLINSIGRC | LDSNEQLERL | NLSGNQICSF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KELTNLTRLP | CLKDLCLNDP | QYTTNPVCLL | CNYSTHVLYH | LPCLQRFDTL | DVSAKQIKEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADTTAMKKIM | YYNMRIKTLQ | RHLKEDLEKL | NDQKCKLQKL | PEERVKLFSF | VKKTLERELA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELKGSGKGHS | DGSNNSKVTD | PETLKSCETV | TEEPSLQQKI | LAKLNALNER | VTFWNKKLDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IEAIYHIEVK | QKKKSHGLLI | PLLLIELETV | GNFHFEEGTR | SDDWFNFCYE | LILSRFCAWD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FRTYGITGVK | VKRIIKVNNR | ILRLKFEEKF | QKFLENEDMH | DSESYRRMLE | CLFYVFDPEV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SVKKKHLLQI | LEKGFKDSET | SKLPLKKEAI | IVSNSLSISE | CPRIEFLQQK | HKDEKKISLK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HELFRHGILL | ITKVFLGQSV | QAHEKESISQ | SNYPMVNSVF | IPRKYLLNSV | MGQRNCDCSV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RQCKWFVFDH | DLVLPEYVVE | FEYITMVKAP | SLFSVFNNVI | LEESKKNPEV | SVFSKDLKFD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DEVIKMEPRI | KARPKLISLD | DKTILSLAKT | SVYSHIVSLN | LHGNSLSKLR | DLSKLTGLRK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LNISFNEFTC | LDDVYHLYNL | EYLDASHNHV | ITLEGFRGLM | KLKHLDLSWN | QLKKSGNEIN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MLCKHTTSLL | TLDIQHNPWQ | KPATLRLSVI | GRLKTLTHLN | GVFISEEEAT | AAMKFIAGTR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ITQLSLLRHS | STKEERPRIL | SIWPSAKILT | QVSKLGPHLH | LSGNCYLKIT | ALNLDGQHLF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EITNLEKLEN | LKWASFSNNN | LTKMEGLESC | INLEELTLDG | NCISKIEGIS | KMTKLTRLSI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| NNNLLTGWEE | HTFDNMLHLH | SLSLENNRIT | SLSGLQKSFT | LVELYISNNY | IAVNQEMHNL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KGLCNLVILD | MCGNIIIWNQ | ENYRLFVIFH | LPELKALDGI | PIEPSETDSA | KDLFGGRLTS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DMIAERQGHS | NFKQMQELNW | TSSSIRTVDL | IPVDQFRNVC | NVNLQNNHLT | SFSGLIYLPN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VKVLCLNYNH | IESIMPRLKP | QTHLTSRQLL | YQKVPSSGYG | QQGISKTNRD | IMSSENLPPI |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| MHSLEVLHLG | YNGICNLIQL | QLNRLRNLKF | LFLQGNEISQ | VEGLDNLVVL | QELVVDHNRI |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| RSFNDSAFAK | PSSLLALHLE | ENRLRELGKL | QSLVKLEKLF | LGYNKIQDIT | ELEKLDVIST |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| LRELTVYGNP | ICRKMLHRHM | LIFRLPNLQM | LDGSPVNSDD | RAKAEFHLAE | LQAKKNSLIP |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| VTHSPMDGRS | FGQVKTPPIE | ITNVLLPSGF | SHYLGSDVTL | TPEVEEFLGA | TFQDQIECNC |
| 1450 | |||||
| LKRNEHTPRN | SPV |