Q5VWI1
PR
Gene name |
TCERG1L |
Protein name |
Transcription elongation regulator 1-like protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:256536 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q5VWI1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5VWI1-F1 | Predicted | AlphaFoldDB |
560 variants for Q5VWI1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA216671178 rs960207433 |
2 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378746027 rs960207433 |
2 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1167907462 CA378746010 |
4 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378746014 rs1347259749 |
4 | G>R | No |
ClinGen TOPMed |
|
|
rs1347259749 CA378746015 |
4 | G>S | No |
ClinGen TOPMed |
|
|
rs1269338770 CA378746007 |
5 | A>S | No |
ClinGen TOPMed |
|
|
rs1339717182 CA378746004 |
5 | A>V | No |
ClinGen TOPMed |
|
|
rs1222506848 CA378745984 |
8 | Q>R | No |
ClinGen TOPMed |
|
|
rs1270258902 CA378745979 |
9 | R>W | No |
ClinGen TOPMed |
|
|
rs1269475504 CA378745974 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA378745965 rs1589781339 |
12 | R>G | No |
ClinGen Ensembl |
|
|
CA216671174 rs1035621140 |
12 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1487478423 CA378745950 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA378745948 rs1475899655 |
15 | Q>* | No |
ClinGen TOPMed |
|
|
rs1169870933 CA378745921 |
18 | Q>P | No |
ClinGen TOPMed |
|
|
rs1234326666 CA378745916 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA378745909 rs1326797422 |
20 | R>L | No |
ClinGen TOPMed |
|
|
CA378745908 rs1326797422 |
20 | R>Q | No |
ClinGen TOPMed |
|
|
rs868142703 CA216671169 |
20 | R>W | No |
ClinGen TOPMed |
|
|
CA378745897 rs1426274266 |
22 | R>L | No |
ClinGen gnomAD |
|
|
rs1164007671 CA378745900 |
22 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1589781313 CA378745896 |
23 | Q>* | No |
ClinGen Ensembl |
|
|
CA378745872 rs1012040503 |
26 | L>P | No |
ClinGen TOPMed |
|
|
CA216671161 rs1012040503 |
26 | L>R | No |
ClinGen TOPMed |
|
|
CA216671158 rs891881206 |
27 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378745866 rs1284023152 |
27 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1419215785 CA378745859 |
28 | P>R | No |
ClinGen gnomAD |
|
|
rs1366963211 CA378745856 |
29 | M>V | No |
ClinGen TOPMed |
|
|
CA5750302 rs528370146 |
31 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378745825 rs1179630343 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs1164342872 CA378745815 |
35 | P>S | No |
ClinGen TOPMed |
|
|
rs944233608 CA216671155 |
38 | P>L | No |
ClinGen TOPMed |
|
|
rs1316611112 CA378745790 |
39 | W>G | No |
ClinGen TOPMed |
|
|
rs1445102737 CA378745787 |
39 | W>L | No |
ClinGen Ensembl |
|
|
CA378745771 rs1225188389 |
41 | W>* | No |
ClinGen gnomAD |
|
|
CA216671139 rs941736822 |
43 | V>E | No |
ClinGen TOPMed |
|
|
rs1354612429 CA378745752 |
44 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1240379144 CA378745748 |
45 | G>S | No |
ClinGen gnomAD |
|
|
CA378745743 rs1318857175 |
45 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378745737 rs1286509483 |
46 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216671135 rs983660734 |
48 | G>R | No |
ClinGen TOPMed |
|
|
CA216671131 rs959891741 |
48 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378745723 rs1158416216 |
49 | L>Q | No |
ClinGen TOPMed |
|
|
rs1035590300 CA216671128 |
50 | L>F | No |
ClinGen TOPMed |
|
|
rs1035590300 CA378745720 |
50 | L>V | No |
ClinGen TOPMed |
|
|
rs1429322242 CA378745716 |
51 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA216671122 rs969970337 |
53 | S>G | No |
ClinGen TOPMed |
|
|
CA216671113 rs1011593631 |
54 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1021594579 CA216671115 |
54 | A>T | No |
ClinGen TOPMed |
|
|
rs1011593631 CA378745695 |
54 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1307042256 CA378745691 |
55 | G>V | No |
ClinGen TOPMed |
|
|
CA378745683 rs1589781248 |
56 | V>G | No |
ClinGen Ensembl |
|
|
rs1336915015 CA378745682 |
57 | V>M | No |
ClinGen TOPMed |
|
|
rs1431363576 CA378745668 |
59 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs891842983 CA378745663 |
60 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs891842983 CA216671106 |
60 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 61 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378745650 rs1204640052 |
62 | L>P | No |
ClinGen TOPMed |
|
|
rs1265256584 CA378745641 |
64 | A>T | No |
ClinGen TOPMed |
|
|
CA378745632 rs1479757416 |
65 | S>W | No |
ClinGen TOPMed |
|
|
rs1177546274 CA378745630 |
66 | A>T | No |
ClinGen gnomAD |
|
|
CA378745613 rs1236164225 |
68 | P>L | No |
ClinGen gnomAD |
|
|
CA378745572 rs1197186774 |
75 | P>L | No |
ClinGen TOPMed |
|
|
CA378745570 rs1428431855 |
76 | G>R | No |
ClinGen TOPMed |
|
|
rs891332637 CA216671103 |
78 | P>L | No |
ClinGen TOPMed |
|
|
rs1178269315 CA378745539 |
81 | P>S | No |
ClinGen TOPMed |
|
|
rs540582305 CA5750299 |
83 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298303319 CA378745521 |
84 | S>G | No |
ClinGen TOPMed |
|
|
rs1564838987 CA378745519 |
84 | S>N | No |
ClinGen Ensembl |
|
|
rs1398001023 CA378745512 |
85 | E>K | No |
ClinGen TOPMed |
|
|
rs1281942437 CA378745505 |
86 | P>A | No |
ClinGen TOPMed |
|
|
rs1281942437 CA378745504 |
86 | P>S | No |
ClinGen TOPMed |
|
|
CA216671095 rs941719164 |
87 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1037750495 CA216671096 |
87 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1485753676 CA378745494 |
88 | L>F | No |
ClinGen Ensembl |
|
|
CA378745492 rs1285547187 |
88 | L>P | No |
ClinGen TOPMed |
|
|
CA378745483 rs1345795776 |
90 | L>V | No |
ClinGen Ensembl |
|
|
rs1201116009 CA378745472 |
92 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378745473 rs1201116009 |
92 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA378745459 rs1206293589 |
94 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216671088 rs938494719 |
94 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378745454 rs1227867364 |
95 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378745458 rs1266742293 |
95 | S>P | No |
ClinGen gnomAD |
|
|
CA378745455 rs1227867364 |
95 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1324298824 CA378745447 |
96 | A>E | No |
ClinGen gnomAD |
|
|
CA378745449 rs1324298824 |
96 | A>V | No |
ClinGen gnomAD |
|
|
CA378745443 rs1231333611 |
97 | P>Q | No |
ClinGen gnomAD |
|
|
CA378745429 rs1382534117 |
98 | D>E | No |
ClinGen gnomAD |
|
|
CA378745433 rs1322675426 |
98 | D>G | No |
ClinGen gnomAD |
|
|
CA378745437 rs1329182652 |
98 | D>N | No |
ClinGen gnomAD |
|
|
rs1170712171 CA378745422 |
99 | S>A | No |
ClinGen TOPMed |
|
|
rs1390751490 CA378745421 |
99 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA378745411 rs1456299356 |
100 | A>S | No |
ClinGen gnomAD |
|
|
CA378745415 rs1456299356 |
100 | A>T | No |
ClinGen gnomAD |
|
|
CA378745410 rs1429372760 |
100 | A>V | No |
ClinGen gnomAD |
|
|
rs1476826430 CA378745395 |
101 | A>V | No |
ClinGen gnomAD |
|
|
rs1376669879 CA378745390 |
102 | A>S | No |
ClinGen gnomAD |
|
|
rs1376669879 CA378745393 |
102 | A>T | No |
ClinGen gnomAD |
|
|
rs1406065647 CA378745384 |
102 | A>V | No |
ClinGen TOPMed |
|
|
CA378745382 rs1449037777 |
103 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378745380 rs1449037777 |
103 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1464147543 CA378745375 |
103 | A>V | No |
ClinGen gnomAD |
|
|
rs1214283958 CA378745370 |
104 | A>P | No |
ClinGen TOPMed |
|
|
CA378745362 rs1246743129 |
105 | A>T | No |
ClinGen gnomAD |
|
|
rs1490508170 CA378745340 |
106 | H>L | No |
ClinGen TOPMed |
|
|
rs1208636814 CA378745349 |
106 | H>N | No |
ClinGen gnomAD |
|
|
CA378745333 rs1346862233 |
107 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs956087973 CA378745330 |
107 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA378745328 rs956087973 |
107 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216671069 rs956087973 |
107 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378745315 rs1378185353 |
108 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216671066 rs1032169405 |
108 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378745294 rs1385295678 |
110 | A>V | No |
ClinGen TOPMed |
|
|
rs1244041230 CA378745264 |
113 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1446670383 CA378745266 |
113 | G>W | No |
ClinGen gnomAD |
|
|
CA5750287 rs76277901 |
117 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5750286 rs76277901 |
117 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs201515661 CA5750285 |
118 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs780235595 CA5750283 |
120 | H>P | No |
ClinGen ExAC |
|
|
rs1589780229 CA378744980 |
121 | S>F | No |
ClinGen Ensembl |
|
|
rs745908436 CA5750282 |
122 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745908436 CA216670339 |
122 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745908436 CA5750281 |
122 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758297120 CA5750279 |
123 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1245464205 CA378744975 |
123 | S>P | No |
ClinGen gnomAD |
|
|
rs1272179842 CA378744950 |
127 | P>L | No |
ClinGen gnomAD |
|
|
CA5750274 rs766095745 |
128 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750271 rs772795939 |
128 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750272 rs772795939 |
128 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750275 rs766095745 |
128 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766095745 CA5750273 |
128 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144573375 CA5750269 |
133 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5750267 rs769116721 |
135 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749586566 CA5750266 |
136 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA378744901 rs61732111 |
137 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61732111 CA5750263 |
137 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1233491418 CA378744879 |
140 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770909970 CA5750261 |
140 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378744875 rs748172226 |
141 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5750260 rs748172226 |
141 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1482211299 CA378744863 |
142 | C>* | No |
ClinGen gnomAD |
|
|
CA378744866 rs1166082216 |
142 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 143 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417652630 CA378744834 |
147 | A>S | No |
ClinGen TOPMed |
|
|
CA5750258 rs778691788 |
148 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138787532 CA5750257 |
148 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5750254 rs200664174 |
149 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779870034 CA5750255 |
149 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750253 rs576330871 |
150 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5750252 rs767115416 |
151 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs752150476 CA5750250 |
152 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA378744789 rs1351976378 |
154 | W>C | No |
ClinGen gnomAD |
|
|
CA5750249 rs764469794 |
154 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs775774307 CA5750247 |
155 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs71478082 CA5750248 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1589780157 CA378744781 |
156 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 156 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378744775 rs1589780154 |
157 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 157 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770007661 CA5750246 |
163 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759819934 CA5750245 |
163 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5750227 rs759869039 |
164 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs776949099 CA5750226 |
169 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA216670001 rs866806922 |
169 | S>F | No |
ClinGen Ensembl |
|
|
CA5750224 rs186329201 |
170 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5750223 rs773103928 |
171 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs147276972 CA5750222 |
173 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs1276187341 CA378744654 |
173 | D>N | No |
ClinGen TOPMed |
|
|
CA378744640 rs1313617939 |
175 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378744636 rs1298657845 |
175 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 176 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216669983 rs986723560 |
177 | I>M | No |
ClinGen TOPMed |
|
|
CA5750220 rs775548831 |
177 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378744617 rs1300538103 |
178 | H>R | No |
ClinGen gnomAD |
|
|
rs1247408918 CA378744605 |
180 | E>* | No |
ClinGen TOPMed |
|
|
CA5750219 rs201627351 |
181 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5750218 rs745619712 |
182 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA378744585 rs1467614552 |
183 | R>K | No |
ClinGen gnomAD |
|
|
CA5750217 rs143901848 |
185 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746534661 CA5750216 |
186 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1458099391 CA378744561 |
186 | H>Q | No |
ClinGen TOPMed |
|
|
CA5750215 rs746534661 |
186 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1028352081 CA216669969 |
188 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777213874 CA378744543 |
189 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777213874 CA5750214 |
189 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376728702 CA216669961 |
190 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376728702 CA216669965 |
190 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5750211 rs150400035 |
192 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5750210 rs765700427 |
192 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA216669951 rs867953636 |
194 | L>P | No |
ClinGen Ensembl |
|
|
CA378744498 rs1483915149 |
197 | Q>K | No |
ClinGen gnomAD |
|
|
CA378744488 rs1272722113 |
198 | V>I | No |
ClinGen TOPMed |
|
|
rs755364653 CA5750209 |
199 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378744475 rs1208987950 |
200 | V>A | No |
ClinGen gnomAD |
|
|
rs754099304 CA5750208 |
201 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378744468 rs1277185761 |
202 | L>M | No |
ClinGen gnomAD |
|
|
CA5750207 rs41282900 RCV000963273 |
203 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs148798248 CA5750206 |
205 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378744444 rs1377060670 |
206 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5750204 rs767758650 |
206 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1377060670 CA378744442 |
206 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5750203 rs761955297 |
207 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA216669930 rs951997237 |
208 | A>D | No |
ClinGen TOPMed |
|
|
rs560799956 CA5750201 |
210 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA378744422 rs1427505552 |
210 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745690642 CA5750200 |
211 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141357318 CA5750197 |
212 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1171444102 CA378744406 |
213 | P>H | No |
ClinGen gnomAD |
|
|
CA5750196 rs146598020 |
214 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778609889 CA5750194 |
215 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5750192 rs779416912 |
218 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5750190 rs754231346 |
220 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750191 rs755415904 |
220 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA378744362 rs766716008 |
221 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5750189 rs766716008 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261160080 CA378744358 |
222 | I>V | No |
ClinGen gnomAD |
|
|
rs750654410 CA5750187 |
223 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956696221 CA216669905 |
223 | P>T | No |
ClinGen Ensembl |
|
|
CA378743458 rs1331310637 |
226 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378743438 rs1589764801 |
227 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 228 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286765898 CA378743400 |
232 | V>A | No |
ClinGen gnomAD |
|
|
CA378743374 rs1429635754 |
236 | P>A | No |
ClinGen TOPMed |
|
|
rs1295121668 CA378743372 |
236 | P>L | No |
ClinGen TOPMed |
|
|
rs1349862250 CA378743370 |
237 | A>T | No |
ClinGen TOPMed |
|
|
CA5750173 rs768205119 |
241 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446608879 CA378743317 |
242 | T>S | No |
ClinGen TOPMed |
|
|
rs1321337721 CA5750169 |
243 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750754103 CA5750167 |
244 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA5750165 rs372502353 |
245 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5750164 rs372502353 |
245 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557402004 CA378743252 |
246 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5750162 rs557402004 |
246 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750161 rs753758027 |
246 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5750153 rs368292274 |
248 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149878172 CA5750154 |
248 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs943807432 CA5750155 |
248 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs578159512 CA5750152 |
249 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1208139148 CA378743164 |
250 | S>F | No |
ClinGen gnomAD |
|
|
CA378743155 rs761516495 |
251 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761516495 CA5750150 |
251 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1235164140 CA378743144 |
252 | D>N | No |
ClinGen gnomAD |
|
|
CA5750149 rs773974035 |
253 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1589764744 CA378743080 |
255 | N>T | No |
ClinGen Ensembl |
|
|
CA5750148 rs768095460 |
256 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147433993 CA378743041 |
257 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147433993 CA5750144 |
257 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770278954 CA5750145 |
257 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173951939 CA378743030 |
258 | G>C | No |
ClinGen gnomAD |
|
|
rs1173951939 CA378743035 |
258 | G>S | No |
ClinGen gnomAD |
|
|
CA5750141 rs535255286 |
259 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750142 rs372812956 |
259 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378742999 rs1451905282 |
260 | S>P | No |
ClinGen gnomAD |
|
|
CA378742984 rs1589764723 |
261 | P>A | No |
ClinGen Ensembl |
|
|
CA378742973 rs1456183465 |
261 | P>L | No |
ClinGen gnomAD |
|
|
CA5750139 rs566118875 |
262 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378742943 rs1443021211 |
263 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5750137 rs144481929 |
264 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766237519 CA5750136 |
265 | Q>* | No |
ClinGen ExAC |
|
|
rs750351933 CA5750134 |
266 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA378742909 rs1279366155 |
266 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750351933 CA5750135 |
266 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761569207 CA5750132 |
267 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750130 rs763756048 |
267 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763756048 CA5750131 |
267 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762386085 CA378742901 |
268 | H>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750129 rs762386085 |
268 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960439711 CA216644372 |
269 | F>C | No |
ClinGen gnomAD |
|
|
CA378742894 rs960439711 |
269 | F>Y | No |
ClinGen gnomAD |
|
|
rs1393910009 CA378742871 |
273 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589764699 CA378742868 |
273 | A>V | No |
ClinGen Ensembl |
|
|
rs769184891 CA5750127 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5750126 rs746436079 |
275 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA216644368 rs745750215 |
279 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747337592 CA378742829 |
280 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750123 rs747337592 |
280 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771462660 CA5750124 |
280 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113694124 CA5750122 |
281 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367822256 CA5750119 |
284 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1389429611 CA378742373 |
287 | T>A | No |
ClinGen gnomAD |
|
|
rs1161713296 CA378742368 |
287 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5750083 rs749378876 |
288 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378742329 rs1478202224 |
291 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201159848 CA5750082 |
291 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378742313 rs1248446362 |
292 | G>D | No |
ClinGen gnomAD |
|
|
CA216659211 rs867581672 |
293 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378742299 rs769852465 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378742301 rs769852465 |
293 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769852465 CA5750081 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs996907114 CA216659185 |
294 | V>G | No |
ClinGen Ensembl |
|
|
CA5750079 rs202205724 |
295 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202205724 CA5750078 |
295 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140533955 CA5750077 |
296 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147188443 CA5750076 |
296 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147188443 CA378742256 |
296 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754798056 CA216659150 |
298 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753532844 CA5750075 |
299 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378742221 rs753532844 |
299 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750074 rs753532844 |
299 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750073 rs766040739 |
301 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750071 rs528779135 |
303 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750072 rs760078996 |
303 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589734220 CA378742156 |
304 | A>T | No |
ClinGen Ensembl |
|
|
CA378742137 rs1366498168 |
305 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378742139 rs1366498168 |
305 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs565261722 CA5750070 |
306 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565261722 CA5750069 |
306 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378742094 rs1455647837 |
307 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs751502635 CA5750067 |
308 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774517531 CA5750068 |
308 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 313 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936788119 CA216659077 |
313 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1158407048 CA378742009 |
313 | E>Q | No |
ClinGen gnomAD |
|
|
rs1227168174 CA378741998 |
314 | D>G | No |
ClinGen Ensembl |
|
|
CA378741990 rs1279487452 |
315 | K>R | No |
ClinGen TOPMed |
|
|
rs1277482696 CA378741669 |
317 | P>L | No |
ClinGen gnomAD |
|
|
CA378741666 rs1225838472 |
318 | P>S | No |
ClinGen gnomAD |
|
|
rs201354515 CA5750043 |
319 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1377257596 CA378741647 |
321 | L>Q | No |
ClinGen gnomAD |
|
|
CA5750041 rs774403927 |
321 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs118074196 CA5750036 |
322 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148112736 CA5750037 |
322 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs118074196 CA378741642 |
322 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148112736 CA5750038 |
322 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5750035 rs780629059 |
323 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780629059 CA378741638 |
323 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1309828550 CA378741639 |
323 | G>R | No |
ClinGen gnomAD |
|
|
rs550346101 CA216656354 |
325 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756770983 CA5750034 |
325 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750032 rs764547795 |
326 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA378741617 rs1415289068 |
327 | S>G | No |
ClinGen gnomAD |
|
|
CA378741608 rs1376770009 |
328 | T>A | No |
ClinGen TOPMed |
|
|
rs1042274599 CA216656348 |
328 | T>K | No |
ClinGen gnomAD |
|
|
rs1473147497 CA378741604 |
329 | A>P | No |
ClinGen gnomAD |
|
|
CA5750031 rs548626336 |
329 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378741593 rs1194390260 |
330 | R>S | No |
ClinGen gnomAD |
|
|
CA378741586 rs1266485787 |
332 | N>D | No |
ClinGen gnomAD |
|
|
CA378741576 rs1223939069 |
333 | R>K | No |
ClinGen gnomAD |
|
|
CA378741558 rs1292948058 |
336 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1292948058 CA378741559 |
336 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA216656333 rs17857275 |
339 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs17857275 CA216656336 VAR_037601 |
339 | P>Q | No |
ClinGen UniProt ESP TOPMed dbSNP gnomAD |
|
|
CA378741536 rs1389394410 |
340 | V>M | No |
ClinGen gnomAD |
|
|
CA378741525 rs1459055044 |
342 | G>R | No |
ClinGen gnomAD |
|
|
rs868451954 CA216656311 |
344 | P>L | No |
ClinGen Ensembl |
|
|
CA378741505 rs1564805098 |
345 | W>* | No |
ClinGen Ensembl |
|
|
rs1320399564 CA378741131 |
345 | W>C | No |
ClinGen TOPMed |
|
|
CA216644465 rs971586760 |
346 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA378741120 rs1189311479 |
347 | V>A | No |
ClinGen gnomAD |
|
|
CA5750003 rs563448537 |
350 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750001 rs759187354 |
351 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1256394233 CA378741092 |
352 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5749999 rs759336318 |
353 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776171772 CA378741077 |
354 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776171772 CA5749998 |
354 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145173247 CA5749997 |
354 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746524954 CA5749996 |
358 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1327642358 CA378741050 |
358 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5749995 rs777329775 |
360 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1191357798 CA378741031 |
361 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378741029 rs1315184365 |
361 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5749994 rs771555603 |
362 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378741025 rs1395073065 |
362 | M>V | No |
ClinGen gnomAD |
|
|
rs748702101 CA5749993 |
363 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA216644426 rs958954655 |
364 | L>Q | No |
ClinGen Ensembl |
|
|
CA378741006 rs1371387172 |
365 | S>P | No |
ClinGen gnomAD |
|
|
rs779440528 CA5749992 |
367 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs755326373 CA5749991 |
370 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA378740963 rs1212824293 |
371 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754180260 CA5749990 |
371 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5749989 rs780146012 |
373 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378740933 rs1194030547 |
375 | D>V | No |
ClinGen TOPMed |
|
|
rs192271138 CA5749988 |
376 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5749987 rs750665045 |
376 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378740927 rs750665045 |
376 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5749984 rs141406580 |
377 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5749983 rs141406580 |
377 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225974676 CA378740912 |
379 | L>F | No |
ClinGen gnomAD |
|
|
rs1314319228 CA378740904 |
380 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378740888 rs1309223301 |
382 | I>T | No |
ClinGen gnomAD |
|
|
rs545027320 CA5749977 |
384 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5749978 rs565387205 |
384 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473136180 CA378740868 |
385 | D>A | No |
ClinGen gnomAD |
|
|
CA378740870 rs1473136180 |
385 | D>V | No |
ClinGen gnomAD |
|
|
rs1020686803 CA378740861 |
386 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1020686803 CA216644362 |
386 | P>Q | No |
ClinGen TOPMed |
|
|
CA378740856 rs1186035956 |
387 | P>L | No |
ClinGen gnomAD |
|
|
rs1227255661 CA378740849 |
388 | H>Q | No |
ClinGen TOPMed |
|
|
CA5749974 rs768518191 |
388 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200282379 CA216644339 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5749973 rs573187068 |
390 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200282379 CA378740839 |
390 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1214033441 CA378740826 |
392 | L>V | No |
ClinGen TOPMed |
|
|
rs1266468915 CA378740818 |
393 | E>G | No |
ClinGen TOPMed |
|
|
CA5749971 rs780626618 |
394 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356434684 CA378740804 |
395 | P>L | No |
ClinGen gnomAD |
|
|
rs1356434684 CA378740805 |
395 | P>R | No |
ClinGen gnomAD |
|
|
CA5749970 rs756528523 |
396 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5749968 rs114685046 |
397 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5749969 rs114685046 |
397 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1161549520 CA378740781 |
398 | D>N | No |
ClinGen gnomAD |
|
|
CA378740772 rs1402272855 |
399 | N>D | No |
ClinGen gnomAD |
|
|
rs1405495955 CA378740762 |
400 | S>N | No |
ClinGen gnomAD |
|
|
rs747190401 CA5749948 |
401 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378740739 rs1191225290 |
403 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467633837 CA378740719 |
406 | E>D | No |
ClinGen gnomAD |
|
|
rs932626657 CA216634354 |
406 | E>K | No |
ClinGen Ensembl |
|
|
CA378740701 rs1217464768 |
409 | R>G | No |
ClinGen gnomAD |
|
|
CA378740699 rs1314711817 |
409 | R>K | No |
ClinGen gnomAD |
|
|
rs566695915 CA5749947 |
410 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1220107514 CA378740678 |
412 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 412 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378740675 rs1350699330 |
412 | Q>R | No |
ClinGen gnomAD |
|
|
rs970482947 CA216634293 |
416 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1021608895 CA216634258 |
420 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753854139 CA5749945 |
420 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378743328 rs1306992599 |
421 | T>I | No |
ClinGen gnomAD |
|
|
CA5749922 rs751257292 |
422 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs145788961 CA5749923 |
422 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762542267 CA5749920 |
423 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763608536 CA5749921 |
423 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5749918 rs779585128 |
425 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378743300 rs1299784011 |
425 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378743297 rs1299784011 |
425 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5749917 rs760176381 |
429 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA378743253 rs1173804024 |
430 | E>A | No |
ClinGen TOPMed |
|
|
rs755900116 CA216662277 |
431 | E>G | No |
ClinGen Ensembl |
|
|
rs369279371 CA5749916 |
433 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1187704443 CA378743226 |
433 | K>R | No |
ClinGen gnomAD |
|
|
rs1420022705 CA378743216 |
434 | R>T | No |
ClinGen gnomAD |
|
|
rs771364109 CA5749915 |
435 | E>A | No |
ClinGen ExAC gnomAD |
|
|
VAR_037602 rs1480561756 CA378743184 |
437 | K>T | a colorectal cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
|
CA5749913 rs773505358 |
439 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1215596503 CA378743159 |
440 | R>K | No |
ClinGen gnomAD |
|
|
rs150958404 CA5749912 |
441 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1589779100 CA378743152 |
441 | T>P | No |
ClinGen Ensembl |
|
|
CA5749910 rs142542526 |
442 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438376800 CA378743140 |
442 | P>S | No |
ClinGen TOPMed |
|
|
CA5749908 rs745847003 |
443 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs943314212 CA216662245 |
443 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199911619 CA5749906 |
444 | P>L | Variant assessed as Somatic; 5.303e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199911619 CA378743123 |
444 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5749904 rs777489631 |
445 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs758193898 CA5749903 |
446 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA378743096 rs1589779071 |
447 | L>F | No |
ClinGen Ensembl |
|
|
rs202018160 CA5749902 |
447 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1157297454 CA378743076 |
449 | P>L | No |
ClinGen gnomAD |
|
|
rs1254123678 CA378743061 |
451 | E>G | No |
ClinGen gnomAD |
|
|
rs894288962 CA216662175 |
452 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs759083298 CA5749900 |
453 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369422870 CA5749899 |
453 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs922658931 CA216662158 |
454 | V>L | No |
ClinGen Ensembl |
|
|
CA378743031 rs1487699674 |
455 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 457 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766742861 CA5749898 |
458 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201078900 CA378743001 |
458 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5749897 rs201078900 |
458 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378742979 rs1157708203 |
460 | M>T | No |
ClinGen TOPMed |
|
|
rs569509041 CA5749896 |
460 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA216662148 rs1042469494 |
463 | E>D | No |
ClinGen Ensembl |
|
|
CA378742947 rs1236563790 |
464 | R>G | No |
ClinGen gnomAD |
|
|
CA216662147 rs866994912 |
465 | G>W | No |
ClinGen Ensembl |
|
|
CA378742344 rs1589775226 |
466 | V>I | No |
ClinGen Ensembl |
|
|
CA378742307 rs1402069579 |
469 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 471 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168590473 CA378742276 |
473 | E>K | No |
ClinGen gnomAD |
|
|
CA5749877 rs762126091 |
474 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008099070 CA216653123 |
477 | H>P | No |
ClinGen TOPMed |
|
|
CA5749875 rs764243476 |
480 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763029060 CA5749874 |
482 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1189756807 CA378742158 |
483 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5749873 rs775503378 |
484 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 486 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5749872 rs374606048 |
491 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs573458882 CA378742057 |
493 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA5749871 rs746971194 |
493 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378742049 rs1249318948 |
494 | K>Q | No |
ClinGen gnomAD |
|
|
rs773167690 CA5749870 |
495 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA378741969 rs1401968800 |
496 | I>K | No |
ClinGen TOPMed |
|
|
CA378741972 rs1231885576 |
496 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147764401 CA216650230 |
501 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA5749863 rs755626419 |
503 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA378741913 rs1445001886 |
504 | R>T | No |
ClinGen gnomAD |
|
|
CA378741896 rs1334433375 |
506 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216650206 rs371220928 |
507 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA378741885 rs1330796401 |
508 | E>* | No |
ClinGen gnomAD |
|
|
rs1371164733 CA378741876 |
509 | Y>C | No |
ClinGen TOPMed |
|
|
CA5749862 rs750926466 |
511 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5749861 rs767965022 CA216650188 |
512 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1333922256 CA378741808 |
519 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163052052 CA378741790 |
521 | E>V | No |
ClinGen gnomAD |
|
|
CA216650175 rs987297033 |
524 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1158863615 CA378741763 |
525 | K>E | No |
ClinGen gnomAD |
|
|
CA5749859 rs751858553 |
527 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17857276 CA378741737 |
529 | E>* | No |
ClinGen gnomAD |
|
|
CA216650148 VAR_037603 rs17857276 |
529 | E>K | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1177519395 CA378741724 |
531 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA378741716 rs1468513166 |
532 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1468513166 CA378741717 |
532 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1432714868 CA378741486 |
536 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 539 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378741464 rs1400176331 |
539 | K>T | No |
ClinGen TOPMed |
|
|
rs765448747 CA5749835 |
540 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs369936170 CA5749833 |
545 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs903287520 CA216646987 |
545 | Y>H | No |
ClinGen TOPMed |
|
|
CA5749831 rs144550438 |
546 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378741413 rs560095047 |
547 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378741412 rs201034812 |
547 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201034812 CA5749829 |
547 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5749830 rs560095047 |
547 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5749826 rs769421483 |
549 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140600092 CA5749827 |
549 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5749825 rs745519771 |
550 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 551 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372571550 CA5749824 |
552 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147204742 CA5749823 |
552 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378741379 rs1308145532 |
553 | L>I | No |
ClinGen gnomAD |
|
|
rs914997437 CA216646949 |
556 | K>N | No |
ClinGen Ensembl |
|
|
rs769739754 CA216646948 |
557 | R>I | No |
ClinGen TOPMed |
|
|
CA5749822 rs747557463 |
558 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA378741329 rs1425039928 |
560 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 560 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5749821 rs149931763 |
562 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 563 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_037604 CA216646917 rs17854242 |
566 | Q>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs758709491 CA5749820 |
567 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1419934421 CA378741265 |
568 | I>M | No |
ClinGen TOPMed |
|
|
rs753043922 CA5749819 |
568 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378741254 rs1297134953 |
570 | I>T | No |
ClinGen TOPMed |
|
|
rs139123582 CA378741226 |
574 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139123582 CA5749817 RCV000951114 |
574 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1357336726 CA378741229 |
574 | R>W | No |
ClinGen gnomAD |
|
|
CA378741216 rs1301012278 |
576 | K>E | No |
ClinGen gnomAD |
|
|
CA5749816 rs755293049 |
576 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5749815 rs754099519 |
577 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA378741190 rs1171825693 |
579 | R>S | No |
ClinGen gnomAD |
|
|
rs919014126 CA378741185 |
580 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs919014126 CA216646867 |
580 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756230007 CA5749812 |
581 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs200682392 CA5749810 |
583 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216646853 rs748595098 |
583 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 584 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 585 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762661323 CA5749809 |
586 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5749808 rs775423197 |
587 | R>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5VWI1
4 regional properties for Q5VWI1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | WW domain | 154 - 179 | IPR001202-1 |
| domain | WW domain | 340 - 372 | IPR001202-2 |
| domain | FF domain | 450 - 503 | IPR002713-1 |
| domain | FF domain | 515 - 570 | IPR002713-2 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA polymerase binding | Binding to an RNA polymerase molecule or complex. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQAGARFQRR | RRQLQQQQPR | RRQPLLWPMD | AEPPPPPPWV | WMVPGSAGLL | RLSAGVVVPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLLASAPPPA | APLLPGLPGW | PAPSEPVLPL | LPLPSAPDSA | AAAAAHPFPA | LHGQWLFGGH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPSLGLPPSS | TVELVPVFPH | LCPSALATPI | GKSWIDKRIP | NCKIFFNNSF | ALDSTWIHPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ESRFFHGHEK | PRLLANQVAV | SLSRPAPASR | PLPTVVLAPQ | PIPGGCHNSL | KVTSSPAIAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ATAAAAAMVS | VDPENLRGPS | PSSVQPRHFL | TLAPIKIPLR | TSPVSDTRTE | RGRVARPPAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MLRAQKSRDG | DKEDKEPPPM | LGGGEDSTAR | GNRPVASTPV | PGSPWCVVWT | GDDRVFFFNP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TMHLSVWEKP | MDLKDRGDLN | RIIEDPPHKR | KLEAPATDNS | DGSSSEDNRE | DQDVKTKRNR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TEGCGSPKPE | EAKREDKGTR | TPPPQILLPL | EERVTHFRDM | LLERGVSAFS | TWEKELHKIV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FDPRYLLLNS | EERKQIFEQF | VKTRIKEEYK | EKKSKLLLAK | EEFKKLLEES | KVSPRTTFKE |
| 550 | 560 | 570 | 580 | ||
| FAEKYGRDQR | FRLVQKRKDQ | EHFFNQFILI | LKKRDKENRL | RLRKMR |