Q9NV88
PR
Gene name |
INTS9 (RC74) |
Protein name |
Integrator complex subunit 9 |
Names |
Int9, Protein related to CPSF subunits of 74 kDa, RC-74 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55756 |
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
10 structures for Q9NV88
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5V8W | X-ray | 210 A | A/C/E/G | 581-658 | PDB |
| 7BFP | EM | 350 A | A | 1-658 | PDB |
| 7BFQ | EM | 350 A | A | 1-658 | PDB |
| 7CUN | EM | 350 A | I | 1-658 | PDB |
| 7PKS | EM | 360 A | i | 1-658 | PDB |
| 7YCX | EM | 418 A | I | 1-658 | PDB |
| 8RBX | EM | 410 A | i | 1-658 | PDB |
| 8RBZ | EM | 370 A | i | 1-658 | PDB |
| 8RC4 | EM | 310 A | i | 1-658 | PDB |
| AF-Q9NV88-F1 | Predicted | AlphaFoldDB |
522 variants for Q9NV88
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA370860053 rs1164494511 |
8 | G>E | No |
ClinGen TOPMed |
|
|
rs1171557470 CA370860039 |
9 | H>P | No |
ClinGen gnomAD |
|
|
rs763221188 CA4697181 |
11 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4697180 rs369458399 |
11 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA174401006 rs769930873 |
13 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4697179 rs769930873 |
13 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370859982 rs1444664199 |
14 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1244423333 CA370859956 |
15 | N>S | No |
ClinGen gnomAD |
|
|
CA4697177 rs777253741 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1233163776 CA370859920 |
17 | L>P | No |
ClinGen gnomAD |
|
|
rs904962649 CA174400980 |
20 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769039723 CA4697176 |
21 | S>* | No |
ClinGen ExAC |
|
|
CA4697174 rs780259204 |
25 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370859761 rs771777281 |
28 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370859756 rs1317206080 |
29 | G>R | No |
ClinGen gnomAD |
|
|
rs1394429001 CA370859750 |
29 | G>V | No |
ClinGen gnomAD |
|
|
rs754053143 CA174400937 |
30 | L>V | No |
ClinGen Ensembl |
|
|
rs1378702120 CA370859712 |
32 | M>V | No |
ClinGen gnomAD |
|
|
CA174400930 rs946573655 |
36 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA370859652 rs778397188 |
36 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs778397188 CA4697171 |
36 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4697170 rs139429194 |
38 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370859582 rs1327952678 |
42 | P>A | No |
ClinGen TOPMed |
|
|
rs1052354009 CA174400916 |
43 | L>P | No |
ClinGen Ensembl |
|
|
CA370859565 rs1215873316 |
44 | V>I | No |
ClinGen TOPMed |
|
|
CA4697169 rs753329151 |
45 | Q>E | No |
ClinGen ExAC |
|
|
rs745530374 CA370858060 |
47 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs371802017 CA4697154 |
47 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745530374 CA4697155 |
47 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770562130 CA4697153 |
48 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs368053758 CA4697151 |
51 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4697150 rs756111852 |
53 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4697148 rs752513758 |
56 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA370857864 rs1356413586 |
56 | S>C | No |
ClinGen TOPMed |
|
|
CA4697147 rs781056955 |
57 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA174394264 rs925479980 |
61 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA174394261 rs979686739 |
62 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA174394262 rs979686739 |
62 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1209197949 CA370857680 |
65 | D>A | No |
ClinGen gnomAD |
|
|
rs1325986428 CA370856310 |
67 | E>D | No |
ClinGen gnomAD |
|
|
CA174391331 rs868633606 |
67 | E>K | No |
ClinGen Ensembl |
|
|
CA4697131 rs747682879 |
70 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028348907 CA174391321 |
71 | C>R | No |
ClinGen TOPMed |
|
|
CA4697130 COSM1098940 rs758455209 |
72 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4697128 rs138784858 |
73 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4697127 rs779945489 |
74 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757582813 CA4697126 |
75 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA370856146 rs1454224724 |
76 | F>S | No |
ClinGen gnomAD |
|
|
rs1399701822 CA370856137 |
77 | V>M | No |
ClinGen gnomAD |
|
|
CA370856088 rs1171770508 |
79 | S>A | No |
ClinGen gnomAD |
|
|
CA4697124 rs764246352 |
80 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4697123 rs756204179 |
81 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4697121 rs768048888 |
82 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174391214 rs1036703818 |
83 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760009907 CA174391213 |
84 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4697098 rs763295626 |
88 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563287094 CA370853797 |
88 | T>A | No |
ClinGen Ensembl |
|
|
rs368909488 CA4697100 |
88 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368909488 CA4697099 COSM184678 |
88 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4697096 rs750770630 |
95 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA370853637 rs1329107055 |
96 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377176771 CA174384272 |
97 | D>V | No |
ClinGen ESP |
|
|
CA370853594 rs1218432551 |
98 | V>M | No |
ClinGen TOPMed |
|
|
CA370853539 rs1407112952 |
100 | L>F | No |
ClinGen gnomAD |
|
|
CA4697095 rs576871540 |
101 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4697093 rs559859500 |
101 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4697094 rs761478656 |
101 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA370853499 rs1414540343 |
102 | S>A | No |
ClinGen gnomAD |
|
|
CA370853439 rs1230727729 |
106 | C>G | No |
ClinGen Ensembl |
|
|
rs1472471524 CA370853436 |
106 | C>Y | No |
ClinGen gnomAD |
|
|
CA4697091 CA370853409 CA174384234 rs760147798 |
107 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405772006 CA370853420 |
107 | M>V | No |
ClinGen gnomAD |
|
|
rs1288492295 CA370853393 |
108 | M>I | No |
ClinGen gnomAD |
|
|
CA4697090 rs775624659 |
108 | M>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1210793 rs1205279074 CA370853381 |
109 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA370853368 rs1468612348 |
111 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 112 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769927689 CA4697086 |
112 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1434183375 CA370853333 |
114 | T>A | No |
ClinGen gnomAD |
|
|
CA174384182 rs915969464 |
114 | T>S | No |
ClinGen gnomAD |
|
|
rs1401374446 CA370853323 |
115 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1403616420 CA370853304 |
116 | H>R | No |
ClinGen TOPMed |
|
|
CA4697084 rs781266596 |
117 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372741538 CA4697083 |
118 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4697082 rs554429405 |
120 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4697081 rs780467640 |
121 | G>S | No |
ClinGen ExAC |
|
| TCGA novel | 125 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369665593 CA4697079 |
126 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323194946 CA370853177 |
127 | E>Q | No |
ClinGen TOPMed |
|
|
rs761376056 CA4697077 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760327507 CA4697074 |
130 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4697075 rs187356415 |
130 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775106628 CA370853112 |
132 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370853104 rs1344147958 |
133 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4697072 rs141707027 |
133 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA174382472 rs903535273 |
135 | L>R | No |
ClinGen Ensembl |
|
|
rs1388932204 CA370852877 |
137 | M>R | No |
ClinGen gnomAD |
|
|
CA4697050 rs368581705 |
137 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370852812 rs1292691432 |
141 | V>E | No |
ClinGen Ensembl |
|
|
CA370852819 rs1444722114 |
141 | V>M | No |
ClinGen gnomAD |
|
|
rs1179780869 CA370852783 |
143 | F>I | No |
ClinGen gnomAD |
|
|
rs768891348 CA4697048 |
144 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374423996 CA174382447 |
145 | E>Q | No |
ClinGen ESP gnomAD |
|
|
rs747192857 CA4697047 |
149 | K>* | No |
ClinGen ExAC |
|
|
CA174382438 rs747192857 |
149 | K>E | No |
ClinGen ExAC |
|
|
CA370852710 rs1482027580 |
151 | Q>H | No |
ClinGen gnomAD |
|
|
CA370852701 rs1273850687 |
153 | A>S | No |
ClinGen gnomAD |
|
|
rs1047801850 CA174382435 |
153 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1431421143 CA370852696 |
154 | S>A | No |
ClinGen Ensembl |
|
|
CA4697045 rs772132650 |
156 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA4697046 rs775437975 |
156 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1563284915 CA370852669 |
158 | N>D | No |
ClinGen Ensembl |
|
|
rs1378770592 CA370852661 |
159 | K>E | No |
ClinGen gnomAD |
|
|
CA370852650 rs1244951293 |
160 | D>G | No |
ClinGen TOPMed |
|
|
rs1405907780 CA370852654 |
160 | D>N | No |
ClinGen gnomAD |
|
|
rs1314478179 CA370850745 |
163 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 164 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174366630 rs1007083454 |
169 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370850661 rs1434830313 |
171 | D>A | No |
ClinGen gnomAD |
|
|
rs1480971203 CA370850666 |
171 | D>N | No |
ClinGen TOPMed |
|
|
rs1585398499 CA370850636 |
172 | A>V | No |
ClinGen Ensembl |
|
|
rs745998762 CA4697026 |
174 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4697025 rs774269412 |
176 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1327395248 CA370850547 |
179 | R>G | No |
ClinGen gnomAD |
|
|
CA370850523 rs1267889892 |
181 | C>R | No |
ClinGen gnomAD |
|
|
rs1267889892 CA370850525 |
181 | C>S | No |
ClinGen gnomAD |
|
|
CA4697023 rs148028193 |
181 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4697022 rs147669870 |
182 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4697021 rs756608165 |
183 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs550913126 CA4697020 |
184 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4697019 rs550913126 |
184 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4697018 rs754567368 |
185 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA370850454 rs1322024132 |
185 | Q>P | No |
ClinGen gnomAD |
|
|
rs1434838635 CA370850447 |
186 | E>* | No |
ClinGen TOPMed |
|
|
rs1585398369 CA370850418 |
187 | V>G | No |
ClinGen Ensembl |
|
|
CA370850404 rs1281494905 |
188 | N>K | No |
ClinGen gnomAD |
|
|
rs1172931793 CA370850414 |
188 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1467403448 CA370850389 |
190 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1375793872 CA370850354 |
192 | S>N | No |
ClinGen gnomAD |
|
|
CA370850341 rs1450062177 |
193 | K>E | No |
ClinGen gnomAD |
|
|
CA370850334 rs1390833021 |
193 | K>R | No |
ClinGen gnomAD |
|
|
rs758578426 CA370850321 |
194 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4697017 rs758578426 |
194 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779501041 CA4697016 |
195 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs750303097 CA4697014 |
196 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765145783 CA4697013 |
197 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370850241 rs1585398229 |
199 | Y>C | No |
ClinGen Ensembl |
|
|
CA370850186 rs1370131264 |
202 | K>I | No |
ClinGen TOPMed |
|
|
rs1213351000 CA370850163 |
203 | I>T | No |
ClinGen TOPMed |
|
|
CA4696993 rs779554252 |
204 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1372262258 CA370850125 |
205 | L>F | No |
ClinGen gnomAD |
|
|
CA4696992 rs757960212 |
205 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749928514 CA4696991 |
207 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4696990 rs778861325 |
208 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1098937 rs763753187 CA4696987 |
210 | Q>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs1184122893 CA4696985 |
210 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1294692427 CA370850092 |
211 | V>M | No |
ClinGen TOPMed |
|
|
rs759806116 CA4696984 |
212 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187606270 CA370850075 |
214 | L>V | No |
ClinGen gnomAD |
|
|
CA4696983 rs751771769 |
218 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA370850049 rs1473125256 |
218 | Y>H | No |
ClinGen gnomAD |
|
|
rs912667862 CA370850039 |
219 | A>D | No |
ClinGen TOPMed |
|
|
rs1297000359 CA370850042 |
219 | A>P | No |
ClinGen TOPMed |
|
|
rs1297000359 CA370850043 |
219 | A>T | No |
ClinGen TOPMed |
|
|
CA174365348 rs912667862 |
219 | A>V | No |
ClinGen TOPMed |
|
|
rs766707122 CA4696982 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA370850003 rs1289966027 |
225 | W>G | No |
ClinGen gnomAD |
|
|
rs763168708 CA4696981 |
226 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1319775274 CA370849990 |
227 | I>L | No |
ClinGen TOPMed |
|
|
CA4696980 rs183128143 |
227 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4696979 rs770358830 |
228 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs762187675 CA4696978 |
228 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA174365290 rs985427851 |
230 | H>N | No |
ClinGen TOPMed |
|
|
CA4696977 rs200927188 |
231 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370849955 rs1186543568 |
232 | E>A | No |
ClinGen TOPMed |
|
|
CA370849911 rs1409099101 |
238 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs113983666 CA174365282 |
239 | G>R | No |
ClinGen Ensembl |
|
|
rs779746812 CA4696974 |
246 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1190186159 CA370849854 |
248 | Q>* | No |
ClinGen TOPMed |
|
|
CA370849849 rs1411168962 |
248 | Q>H | No |
ClinGen TOPMed |
|
|
CA370860624 rs1223057281 |
249 | P>S | No |
ClinGen gnomAD |
|
|
rs777064393 CA4696960 |
250 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4696961 rs762397337 |
250 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA370860549 rs1563257321 |
254 | S>F | No |
ClinGen Ensembl |
|
|
rs761066475 CA4696958 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1268862288 CA370860505 |
258 | S>G | No |
ClinGen TOPMed |
|
|
CA370860504 rs1436084234 |
258 | S>N | No |
ClinGen gnomAD |
|
|
rs775809172 CA4696957 |
259 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696954 rs773912263 |
263 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370860429 rs1477356558 |
264 | T>I | No |
ClinGen gnomAD |
|
|
rs1363571724 CA370860425 |
265 | G>R | No |
ClinGen gnomAD |
|
|
rs748815707 CA4696952 |
268 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs777613993 CA4696951 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4696949 rs747983258 |
271 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA370860291 rs1442819268 |
275 | D>E | No |
ClinGen gnomAD |
|
|
rs1364924602 CA370860242 |
279 | G>A | No |
ClinGen TOPMed |
|
|
rs1217385095 CA370860207 |
282 | C>R | No |
ClinGen gnomAD |
|
|
rs781098699 CA4696948 |
284 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370860172 rs951819819 |
284 | N>S | No |
ClinGen gnomAD |
|
|
rs951819819 CA174401215 |
284 | N>T | No |
ClinGen gnomAD |
|
|
CA370860164 rs1229249784 |
285 | L>V | No |
ClinGen gnomAD |
|
|
CA4696928 rs187070464 |
288 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4696926 rs779041735 |
290 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746816878 CA4696927 |
290 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696924 rs753885557 |
292 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs570936069 CA370859231 CA174399596 |
294 | N>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370859227 rs777867933 |
295 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4696923 rs777867933 |
295 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1420326178 CA370859209 |
296 | L>F | No |
ClinGen TOPMed |
|
|
CA4696920 rs767995914 |
300 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs753140556 CA4696921 |
300 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696918 rs751934272 |
301 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370859153 rs1184225188 |
301 | P>S | No |
ClinGen gnomAD |
|
|
rs765972953 CA4696917 |
306 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370859096 rs765972953 |
306 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226264900 CA370859000 |
313 | Y>* | No |
ClinGen TOPMed |
|
|
rs377440353 CA4696912 |
316 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370858955 rs1371893300 |
317 | D>N | No |
ClinGen gnomAD |
|
|
rs1297051151 CA370858933 |
319 | A>T | No |
ClinGen gnomAD |
|
|
CA174399527 rs891032165 |
320 | G>R | No |
ClinGen Ensembl |
|
|
rs1218526901 CA370858900 |
322 | S>T | No |
ClinGen TOPMed |
|
|
CA4696906 rs557738365 |
324 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4696905 rs557738365 |
324 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752766621 CA4696904 |
325 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781691304 CA4696903 |
326 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781691304 CA370858863 |
326 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1249755379 CA370858860 |
326 | L>R | No |
ClinGen gnomAD |
|
|
rs910580677 CA174399475 |
327 | Y>C | No |
ClinGen TOPMed |
|
|
rs931933739 CA174399478 |
327 | Y>H | No |
ClinGen TOPMed |
|
|
rs921928804 CA370858841 |
328 | F>L | No |
ClinGen gnomAD |
|
|
CA174399461 rs921928804 |
328 | F>V | No |
ClinGen gnomAD |
|
|
CA370858828 rs1212035450 |
329 | I>F | No |
ClinGen gnomAD |
|
|
CA4696901 rs751903028 |
329 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1269159010 CA370858812 |
331 | P>S | No |
ClinGen gnomAD |
|
|
rs1219252712 CA370858798 |
333 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750148696 CA4696896 |
334 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1323353231 CA370858786 |
335 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1323353231 CA370858787 |
335 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370858743 rs1585364093 |
341 | Q>P | No |
ClinGen Ensembl |
|
|
rs1585364083 CA370858738 |
342 | I>L | No |
ClinGen Ensembl |
|
|
CA370858724 rs527905961 |
343 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4696893 rs776256785 |
344 | A>S | No |
ClinGen ExAC |
|
|
rs1161148067 CA370858717 |
345 | E>K | No |
ClinGen TOPMed |
|
|
rs1444934762 CA370858709 |
346 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397577968 CA370858070 |
349 | H>R | No |
ClinGen gnomAD |
|
|
rs763636831 CA4696842 |
350 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs773661159 | 351 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370858032 rs1309717531 |
352 | Q>* | No |
ClinGen gnomAD |
|
|
rs755712559 CA4696841 |
352 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA370857974 rs1585353156 |
355 | V>E | No |
ClinGen Ensembl |
|
|
CA4696840 rs752113604 |
356 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767536500 CA4696839 |
358 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs372014318 CA4696838 |
361 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223235341 CA370857881 |
361 | P>S | No |
ClinGen gnomAD |
|
|
rs774139148 CA4696837 |
363 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1372730528 CA370857851 |
363 | P>T | No |
ClinGen gnomAD |
|
|
CA370857811 rs1288017327 |
365 | A>V | No |
ClinGen TOPMed |
|
|
rs1563246387 CA370856171 |
371 | N>K | No |
ClinGen Ensembl |
|
|
rs200884133 CA4696820 |
371 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267499242 CA370856136 |
374 | K>N | No |
ClinGen gnomAD |
|
|
rs1585340592 CA370856111 |
376 | Y>S | No |
ClinGen Ensembl |
|
|
CA4696818 rs751559479 |
378 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs374478546 CA370856025 |
380 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370856035 rs1563246365 |
380 | H>R | No |
ClinGen Ensembl |
|
|
CA174391001 rs1009701451 |
381 | G>E | No |
ClinGen TOPMed |
|
|
rs750163507 COSM1456507 CA4696815 |
381 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA174390993 rs371334216 |
382 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772855738 CA4696814 |
383 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696813 rs760766584 |
385 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4696811 rs771987070 |
386 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696809 rs775059997 |
388 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1563246280 CA370855877 |
388 | R>T | No |
ClinGen Ensembl |
|
|
CA370855814 rs1303943158 |
390 | P>R | No |
ClinGen TOPMed |
|
|
rs771652177 CA4696806 |
391 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696803 rs747700535 |
393 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747700535 CA4696804 |
393 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370855775 rs1470109807 |
394 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370855772 rs1470109807 |
394 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs970600098 CA370855754 |
395 | T>I | No |
ClinGen gnomAD |
|
|
CA174390925 rs970600098 |
395 | T>N | No |
ClinGen gnomAD |
|
|
CA4696800 rs370384415 |
396 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754554220 CA4696801 |
396 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585340292 CA370855733 |
397 | H>P | No |
ClinGen Ensembl |
|
|
rs202065556 CA4696797 |
398 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202065556 CA4696798 |
398 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764872038 CA4696796 |
401 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696795 rs756371472 |
401 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767847217 CA4696793 |
403 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4696792 rs759725411 |
404 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370855647 rs1431810426 |
405 | V>L | No |
ClinGen gnomAD |
|
|
CA4696790 rs767014548 |
407 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1316762286 CA370855617 |
407 | H>P | No |
ClinGen gnomAD |
|
|
CA174390861 rs1000238374 |
408 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370855556 rs1260389599 |
412 | W>C | No |
ClinGen TOPMed |
|
|
CA4696788 rs150219151 |
414 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370855518 rs1383954745 |
416 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 417 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370855512 rs1234944897 |
417 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4696786 rs770115032 |
418 | N>D | No |
ClinGen ExAC TOPMed |
|
|
CA4696785 rs141006653 |
420 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696784 rs776186633 |
421 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746547645 CA4696783 |
423 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs746547645 CA4696782 |
423 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211941107 CA370855073 |
431 | E>G | No |
ClinGen TOPMed |
|
|
rs1563243681 CA370855056 |
434 | A>S | No |
ClinGen Ensembl |
|
|
CA370855052 rs1355452278 |
435 | P>S | No |
ClinGen gnomAD |
|
|
CA4696760 rs771537343 |
436 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA370854967 rs1352362783 |
437 | Q>H | No |
ClinGen gnomAD |
|
|
CA370854973 rs1443747007 |
437 | Q>R | No |
ClinGen gnomAD |
|
|
rs745376105 CA4696759 |
438 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419754955 CA370854937 |
440 | A>T | No |
ClinGen gnomAD |
|
|
rs1474806638 CA370854921 |
441 | M>I | No |
ClinGen gnomAD |
|
|
CA4696757 rs757196607 |
441 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA370854892 rs1177808909 |
443 | C>S | No |
ClinGen gnomAD |
|
|
CA4696755 rs777669891 |
444 | I>V | No |
ClinGen ExAC |
|
|
CA370854864 rs1249756992 |
445 | Y>C | No |
ClinGen TOPMed |
|
|
rs755253516 CA4696754 |
445 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393110502 CA370854796 |
450 | T>S | No |
ClinGen TOPMed |
|
|
rs780420351 CA4696752 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4696753 rs751890112 |
451 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308376864 CA370854691 |
459 | K>E | No |
ClinGen gnomAD |
|
|
rs1308376864 CA370854693 |
459 | K>Q | No |
ClinGen gnomAD |
|
|
CA4696749 rs1175174950 |
463 | E>Q | No |
ClinGen Ensembl |
|
|
rs750494854 CA4696748 |
463 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4696746 rs200033074 |
464 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs765689623 CA4696747 |
464 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374656316 CA370854620 |
465 | Q>* | No |
ClinGen TOPMed |
|
|
CA4696728 rs757720202 |
466 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA370854512 rs1479128359 |
468 | H>N | No |
ClinGen TOPMed |
|
|
CA370854494 rs764578456 |
469 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696726 rs764578456 |
469 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753034116 CA4696724 |
470 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370854486 rs753034116 |
470 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696723 rs755361005 |
471 | C>* | No |
ClinGen ExAC |
|
|
rs751579461 CA174386045 |
471 | C>R | No |
ClinGen Ensembl |
|
|
rs1563241783 CA370854431 |
474 | Q>* | No |
ClinGen Ensembl |
|
|
CA4696722 rs767097653 |
476 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4696721 rs369630069 |
477 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210911988 CA370854367 |
478 | P>L | No |
ClinGen gnomAD |
|
|
rs1277621606 CA370854335 |
480 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696719 rs773737752 |
482 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770415705 CA4696718 |
483 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4696716 rs142907634 |
484 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370854265 rs1361142103 |
484 | H>R | No |
ClinGen gnomAD |
|
|
rs747979330 CA4696714 |
486 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585328985 CA370853953 |
487 | D>A | No |
ClinGen Ensembl |
|
|
CA370853907 rs1585328937 |
491 | D>A | No |
ClinGen Ensembl |
|
|
rs1378206899 CA370853912 |
491 | D>H | No |
ClinGen TOPMed |
|
|
rs746047822 CA4696712 |
492 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA370853894 rs1465680125 |
492 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs534558238 CA174385900 |
494 | P>T | No |
ClinGen 1000Genomes |
|
|
rs1427130298 CA370853866 |
495 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1262976482 CA370853857 |
495 | P>L | No |
ClinGen gnomAD |
|
|
rs1427130298 CA370853863 |
495 | P>S | No |
ClinGen TOPMed gnomAD |
|
| rs780617509 | 496 | A>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756564539 CA4696706 |
496 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA370853838 rs1383347408 |
497 | M>R | No |
ClinGen gnomAD |
|
|
CA174385877 rs1010471162 |
497 | M>V | No |
ClinGen Ensembl |
|
|
CA4696704 rs753091252 |
498 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767853863 CA4696703 |
499 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4696701 rs548180024 |
500 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146865172 CA4696702 |
500 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370853802 rs1252738965 |
501 | R>G | No |
ClinGen gnomAD |
|
|
CA4696700 rs765917957 |
501 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306684269 CA370853785 |
502 | A>G | No |
ClinGen gnomAD |
|
|
CA370853773 rs1293724562 |
503 | E>G | No |
ClinGen gnomAD |
|
|
CA4696699 rs762602475 |
504 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs372201911 CA4696697 |
506 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372201911 CA4696696 |
506 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370853720 rs776307091 |
507 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4696695 rs776307091 |
507 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4696693 rs746773071 |
508 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423347088 CA370853676 |
510 | K>E | No |
ClinGen gnomAD |
|
|
CA4696691 rs373683663 |
510 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199718736 CA4696690 |
511 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777789213 CA4696689 |
511 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696687 rs532323381 |
512 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696688 rs368126287 |
512 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs941856671 CA174385749 |
513 | Y>C | No |
ClinGen TOPMed |
|
|
CA370853620 rs1193686446 |
514 | E>K | No |
ClinGen gnomAD |
|
|
rs1585328595 CA370853607 |
515 | K>R | No |
ClinGen Ensembl |
|
|
rs549719222 CA4696684 |
517 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758085228 CA4696682 |
519 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4696683 rs766078408 |
519 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1292620744 CA370853522 |
519 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1309324617 CA370853489 |
521 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4696681 rs749961902 |
521 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs769211012 | 522 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174381615 rs937268798 |
523 | A>E | No |
ClinGen TOPMed |
|
|
CA4696644 rs747420713 |
523 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772634536 CA4696642 |
524 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432566702 CA370852594 |
525 | S>L | No |
ClinGen TOPMed |
|
|
CA4696637 rs777080588 |
528 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs753415818 CA4696638 |
528 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752686842 CA174381547 |
529 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696635 rs752686842 |
529 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767437091 CA4696634 |
533 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370852546 rs1215429522 |
533 | P>T | No |
ClinGen gnomAD |
|
|
CA370852531 rs1276773640 |
535 | I>T | No |
ClinGen gnomAD |
|
|
rs1340592194 CA370852505 |
539 | T>S | No |
ClinGen Ensembl |
|
|
rs759376376 CA4696633 |
541 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs762916301 CA4696630 |
543 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370852461 rs1411343979 |
547 | K>E | No |
ClinGen gnomAD |
|
|
CA370852450 rs1417122785 |
548 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 548 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768680092 CA4696628 |
551 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475463382 CA370852428 |
551 | H>Y | No |
ClinGen gnomAD |
|
|
CA174381465 rs1045378093 |
553 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs868076475 CA174381458 |
554 | Q>H | No |
ClinGen gnomAD |
|
|
CA174380505 rs970178769 |
555 | P>S | No |
ClinGen TOPMed |
|
|
CA4696602 rs774865732 |
556 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771257510 CA4696601 |
556 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370852386 rs771257510 |
556 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774865732 CA370852387 |
556 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174380500 rs774865732 |
556 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563235866 CA370852384 |
557 | P>A | No |
ClinGen Ensembl |
|
|
CA4696599 rs149479662 |
558 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376320579 CA4696600 |
558 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747689692 CA4696597 |
560 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762752506 CA174380411 |
563 | T>M | No |
ClinGen TOPMed |
|
|
CA174380413 rs762752506 |
563 | T>R | No |
ClinGen TOPMed |
|
|
rs375913055 CA174380385 |
564 | S>G | No |
ClinGen Ensembl |
|
|
CA4696593 rs377455923 |
565 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234550865 CA370852285 |
565 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758169845 CA4696592 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1200614685 CA370852233 |
570 | R>Q | No |
ClinGen TOPMed |
|
|
CA370852234 rs574478877 |
570 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1338602845 CA370852220 |
572 | S>T | No |
ClinGen gnomAD |
|
|
CA4696590 rs750213826 |
573 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA370852215 rs750213826 |
573 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1398117553 CA370852206 |
574 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4696588 rs537896246 |
575 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370852194 rs1190494265 |
576 | P>S | No |
ClinGen TOPMed |
|
|
CA4696587 rs752824320 |
577 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs898560229 CA174380324 |
580 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 581 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370852148 rs1477835046 |
583 | P>T | No |
ClinGen TOPMed |
|
|
rs1461361878 CA370852141 |
584 | L>S | No |
ClinGen TOPMed |
|
|
rs1004330786 CA174380311 |
585 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 586 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766878171 CA4696583 |
587 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4696584 rs774785377 |
587 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370852112 rs1487625331 |
589 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA174380282 rs886292996 |
590 | P>S | No |
ClinGen Ensembl |
|
|
rs1026216407 CA174380235 |
591 | V>M | No |
ClinGen Ensembl |
|
|
CA370852085 rs1341389806 |
593 | Q>* | No |
ClinGen TOPMed |
|
|
rs1341389806 CA370852086 |
593 | Q>K | No |
ClinGen TOPMed |
|
|
rs1261756826 CA370852082 |
593 | Q>R | No |
ClinGen gnomAD |
|
|
CA370852072 rs141233116 |
594 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585316114 CA370852068 |
595 | V>A | No |
ClinGen Ensembl |
|
|
rs138837940 CA370852071 |
595 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138837940 CA4696581 |
595 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769441294 CA4696580 |
596 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370852065 rs769441294 |
596 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761399135 CA4696579 |
596 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA370852057 rs1307830204 |
597 | T>I | No |
ClinGen gnomAD |
|
|
CA370851912 rs1224915993 |
601 | H>N | No |
ClinGen TOPMed |
|
|
rs1336527643 CA370851907 |
601 | H>R | No |
ClinGen gnomAD |
|
|
CA370851889 rs1444889860 |
604 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370851873 rs1376621304 |
606 | I>V | No |
ClinGen gnomAD |
|
|
rs1327064820 CA370851866 |
607 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370851859 rs1388975014 |
608 | V>M | No |
ClinGen gnomAD |
|
|
CA4696539 rs763770854 |
611 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs539097853 CA4696538 |
612 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370851801 rs1381682897 |
616 | I>T | No |
ClinGen gnomAD |
|
|
CA370851797 rs375160953 |
617 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1210791 CA4696536 rs375160953 |
617 | V>I | large_intestine Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774469045 CA370851792 |
618 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770968184 CA4696533 |
619 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1585313083 CA370851779 |
620 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 621 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205695636 CA370851775 |
621 | E>K | No |
ClinGen gnomAD |
|
|
rs36111735 CA174378694 |
622 | A>G | No |
ClinGen Ensembl |
|
|
CA4696530 rs776756406 |
624 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1358265999 CA370851746 |
625 | L>P | No |
ClinGen TOPMed |
|
|
rs566870525 CA4696527 |
628 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370851709 rs1329810871 |
630 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4696526 rs745916741 |
630 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA174378670 rs898092080 |
631 | D>G | No |
ClinGen gnomAD |
|
|
rs1224345911 CA370851688 |
634 | H>Y | No |
ClinGen gnomAD |
|
|
rs1395334987 CA370851667 |
636 | I>M | No |
ClinGen gnomAD |
|
|
CA370851673 rs1418641442 |
636 | I>V | No |
ClinGen gnomAD |
|
|
CA174378655 rs1034621561 |
638 | D>E | No |
ClinGen gnomAD |
|
|
CA370851656 rs1376897816 |
638 | D>N | No |
ClinGen gnomAD |
|
|
rs1489263390 CA370851650 |
639 | N>D | No |
ClinGen gnomAD |
|
|
CA174378648 rs764380381 |
639 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764380381 CA4696521 |
639 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278031928 CA370851643 |
640 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs138182549 CA370851636 |
641 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696519 rs138182549 |
641 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696517 rs759133364 |
642 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4696518 rs375373727 |
642 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA174378642 rs1045205362 |
642 | M>V | No |
ClinGen TOPMed |
|
|
CA4696516 rs773949783 |
643 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184031649 CA4696515 |
645 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150431221 CA4696514 COSM1098930 |
646 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696513 rs201451185 |
646 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769699353 CA4696512 |
647 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4696511 rs747865935 |
648 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207852334 CA370851599 |
648 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775833906 CA4696510 |
649 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1185167216 CA370851585 |
650 | L>P | No |
ClinGen TOPMed |
|
|
rs1461569912 CA370851588 |
650 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 651 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370851557 rs1412466118 |
654 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772138553 CA4696509 |
655 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA4696508 rs745982905 |
656 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA370851545 rs1378305830 |
656 | Q>R | No |
ClinGen TOPMed |
|
|
rs778901895 CA4696507 |
657 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA370851524 rs1016478841 |
659 | F>S | No |
ClinGen TOPMed |
No associated diseases with Q9NV88
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integrator complex | A protein complex that stably associates with the C-terminus of RNA polymerase II and mediates 3'-end processing of small nuclear RNAs generated by RNA polymerase II. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of transcription elongation by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| snRNA 3'-end processing | Any process involved in forming the mature 3' end of an snRNA molecule. |
| snRNA processing | Any process involved in the conversion of a primary small nuclear RNA (snRNA) transcript into a mature snRNA molecule. The primary function of snRNAs is processing pre-messenger RNA in the nucleus. They have also been shown to aid in the regulation of transcription factors (7SK RNA) or RNA polymerase II (B2 RNA), and maintaining the telomeres. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKLYCLSGHP | TLPCNVLKFK | STTIMLDCGL | DMTSTLNFLP | LPLVQSPRLS | NLPGWSLKDG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NAFLDKELKE | CSGHVFVDSV | PEFCLPETEL | IDLSTVDVIL | ISNYHCMMAL | PYITEHTGFT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTVYATEPTV | QIGRLLMEEL | VNFIERVPKA | QSASLWKNKD | IQRLLPSPLK | DAVEVSTWRR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CYTMQEVNSA | LSKIQLVGYS | QKIELFGAVQ | VTPLSSGYAL | GSSNWIIQSH | YEKVSYVSGS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLLTTHPQPM | DQASLKNSDV | LVLTGLTQIP | TANPDGMVGE | FCSNLALTVR | NGGNVLVPCY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSGVIYDLLE | CLYQYIDSAG | LSSVPLYFIS | PVANSSLEFS | QIFAEWLCHN | KQSKVYLPEP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PFPHAELIQT | NKLKHYPSIH | GDFSNDFRQP | CVVFTGHPSL | RFGDVVHFME | LWGKSSLNTV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IFTEPDFSYL | EALAPYQPLA | MKCIYCPIDT | RLNFIQVSKL | LKEVQPLHVV | CPEQYTQPPP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AQSHRMDLMI | DCQPPAMSYR | RAEVLALPFK | RRYEKIEIMP | ELADSLVPME | IKPGISLATV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SAVLHTKDNK | HLLQPPPRPA | QPTSGKKRKR | VSDDVPDCKV | LKPLLSGSIP | VEQFVQTLEK |
| 610 | 620 | 630 | 640 | 650 | |
| HGFSDIKVED | TAKGHIVLLQ | EAETLIQIEE | DSTHIICDND | EMLRVRLRDL | VLKFLQKF |