Q01780
PR
Gene name |
EXOSC10 |
Protein name |
Exosome component 10 |
Names |
Autoantigen PM/Scl 2, P100 polymyositis-scleroderma overlap syndrome-associated autoantigen, Polymyositis/scleroderma autoantigen 100 kDa, PM/Scl-100, Polymyositis/scleroderma autoantigen 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5394 |
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
727 variants for Q01780
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1295501255 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355446387 CA338376453 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA588704 rs780579497 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751321919 CA588702 |
3 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338376425 rs1328200083 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA338376440 rs751321919 |
3 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17919690 rs751321919 |
3 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016558812 CA17919682 |
4 | P>S | No |
ClinGen Ensembl |
|
|
rs267597920 CA588701 |
5 | S>G | No |
ClinGen ExAC |
|
|
CA588700 rs368921159 |
6 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588698 rs764768620 |
6 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA588699 rs764768620 |
6 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1166906543 CA338376387 |
7 | R>G | No |
ClinGen gnomAD |
|
|
CA17919669 rs3189812 |
7 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs3189812 CA588697 |
7 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772299475 CA588693 CA588692 |
8 | E>D | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs766222688 CA588696 |
8 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA588695 rs766222688 |
8 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA588691 rs748358094 |
9 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA338376359 rs1230689728 |
10 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA588688 rs540443256 |
10 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA588689 rs540443256 |
10 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1274644846 CA338376351 |
11 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA588685 rs146839323 |
13 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs979529186 CA17919612 |
13 | S>P | No |
ClinGen Ensembl |
|
|
CA17919604 rs998477298 |
14 | A>P | No |
ClinGen TOPMed |
|
|
rs1557726146 CA338376308 |
14 | A>V | No |
ClinGen Ensembl |
|
|
rs149201210 CA588684 |
16 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338376284 rs1397024950 |
16 | S>R | No |
ClinGen gnomAD |
|
|
rs1007629810 CA17919580 |
17 | A>E | No |
ClinGen TOPMed |
|
|
rs369049490 CA588683 |
17 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338376269 rs1570878367 |
18 | T>A | No |
ClinGen Ensembl |
|
|
rs752330753 CA588682 |
20 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338376219 rs1235649896 |
22 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1043513982 CA338376223 CA17919558 |
22 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA588679 rs753843423 |
23 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338376195 rs1557725970 |
24 | M>I | No |
ClinGen Ensembl |
|
|
CA338376187 rs1483115805 |
25 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1001850115 CA17919533 |
26 | L>P | No |
ClinGen TOPMed |
|
|
CA17919525 rs1001850115 |
26 | L>R | No |
ClinGen TOPMed |
|
|
CA588678 rs766279598 |
29 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 29 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750245662 CA588676 |
31 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588675 rs767272630 |
33 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044952946 CA17919517 |
34 | S>I | No |
ClinGen TOPMed |
|
|
rs1261682434 CA338376067 |
36 | V>A | No |
ClinGen gnomAD |
|
|
rs1288020039 CA338375950 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA588655 rs140830726 |
39 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769928922 CA338375897 |
43 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769928922 CA588652 |
43 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17918322 rs768737463 |
45 | A>T | No |
ClinGen Ensembl |
|
|
rs760137524 CA588651 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186030987 CA338375837 |
47 | T>I | No |
ClinGen TOPMed |
|
|
rs1261490441 CA338375834 |
48 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA588650 rs777186196 |
48 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340114595 CA338375772 |
52 | G>C | No |
ClinGen gnomAD |
|
|
rs773396650 CA588646 |
54 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588645 rs768326694 |
55 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA338375304 rs1233663994 |
56 | F>S | No |
ClinGen gnomAD |
|
|
CA338375295 rs1233663994 |
56 | F>Y | No |
ClinGen gnomAD |
|
|
rs779549961 CA338375246 |
58 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA588643 rs779549961 |
58 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588641 rs745871241 |
61 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs139579131 CA588642 |
61 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs947044346 CA17918261 |
61 | D>N | No |
ClinGen Ensembl |
|
|
CA588639 rs757050222 |
64 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557723772 CA338374982 |
67 | P>L | No |
ClinGen Ensembl |
|
|
CA338374981 rs1227881141 |
68 | G>S | No |
ClinGen Ensembl |
|
|
rs200699882 CA588638 |
69 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746885913 CA588637 |
70 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313369826 CA338374935 |
70 | Q>R | No |
ClinGen TOPMed |
|
|
CA588635 rs372372162 |
71 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438848110 CA338374918 |
72 | F>L | No |
ClinGen gnomAD |
|
|
CA338374899 rs1557723704 |
73 | C>Y | No |
ClinGen Ensembl |
|
|
rs62623443 CA588634 |
74 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs972853876 CA17918189 |
75 | T>I | No |
ClinGen TOPMed |
|
|
rs759689288 CA588633 |
77 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA338374799 rs1480463170 |
79 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 79 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338374781 CA338374779 rs777048175 |
79 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338374796 rs1480463170 |
79 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs766929038 CA588631 |
80 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338374723 rs1336718513 |
82 | Q>H | No |
ClinGen gnomAD |
|
|
rs1375555193 CA338374061 |
84 | M>L | No |
ClinGen gnomAD |
|
|
CA338374059 rs1375555193 |
84 | M>V | No |
ClinGen gnomAD |
|
|
rs766298657 CA588613 |
87 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA338373920 rs367729429 |
90 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338373928 rs1401629139 |
90 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA338373914 rs1157373895 |
91 | H>Y | No |
ClinGen gnomAD |
|
|
CA588608 rs554065524 |
93 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545538259 CA588609 |
93 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA338373870 rs554065524 |
93 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769457804 CA588607 |
94 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs201697851 CA588606 |
94 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338373857 rs769457804 |
94 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA338373850 rs1557720921 |
95 | S>C | No |
ClinGen Ensembl |
|
|
rs776209993 CA588605 |
95 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338373780 rs1447329270 |
99 | D>N | No |
ClinGen gnomAD |
|
|
CA338373763 rs375807419 |
100 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA17916272 rs375807419 |
100 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770290882 CA588604 |
100 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199948532 CA588603 |
101 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA588602 rs777851905 |
104 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA338373669 rs1294375510 |
107 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1273848716 CA338373618 |
108 | D>E | No |
ClinGen gnomAD |
|
|
CA338373553 rs1457553486 |
111 | D>G | No |
ClinGen gnomAD |
|
|
CA338373535 rs1328586784 |
112 | L>S | No |
ClinGen gnomAD |
|
|
rs778807497 CA588599 |
114 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA338373496 rs1399941102 |
114 | V>I | No |
ClinGen gnomAD |
|
|
CA338373453 rs1231114905 |
116 | A>P | No |
ClinGen TOPMed |
|
|
rs1341717354 CA338373434 |
116 | A>V | No |
ClinGen TOPMed |
|
|
rs755229263 CA588598 |
117 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA588597 rs137858764 |
117 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780235205 CA588596 |
123 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs756142912 CA588595 |
123 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756142912 CA17916150 |
123 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443138061 CA338371911 |
125 | G>D | No |
ClinGen TOPMed |
|
|
rs750524922 CA588574 |
125 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439255797 CA338371903 |
126 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA588572 rs757766252 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA338371838 rs1318141175 |
130 | E>V | No |
ClinGen Ensembl |
|
|
CA588571 rs752005656 |
131 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1295444526 CA338371749 |
135 | N>K | No |
ClinGen gnomAD |
|
|
rs1048846255 CA17911422 |
136 | K>E | No |
ClinGen Ensembl |
|
|
CA588570 rs764502959 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753570308 CA588568 |
138 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs79901823 CA17911420 |
138 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 139 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17911412 rs972800843 |
139 | Q>E | No |
ClinGen gnomAD |
|
|
rs1444447034 CA338371622 |
142 | L>F | No |
ClinGen gnomAD |
|
|
CA588567 rs765928264 |
143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA588566 rs760329299 |
144 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761897779 CA588563 |
145 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767073887 CA588564 |
145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749012920 CA588560 |
147 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588561 rs768534408 |
147 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1302001919 CA338371536 |
148 | V>F | No |
ClinGen gnomAD |
|
|
rs1570850156 CA338371533 |
148 | V>G | No |
ClinGen Ensembl |
|
|
rs772726382 CA17911380 |
149 | P>R | No |
ClinGen Ensembl |
|
|
CA588559 rs372255347 |
149 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA588557 rs746023866 |
150 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs373477035 CA588556 |
151 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212204671 CA338371457 |
153 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747583689 CA588554 |
157 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs778113776 CA588553 |
158 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148142542 CA588552 |
158 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434775420 CA338371318 |
160 | A>S | No |
ClinGen gnomAD |
|
|
CA17911192 rs1056258931 |
161 | A>T | No |
ClinGen TOPMed |
|
|
CA338371285 COSM3975875 rs1396550397 |
163 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA338371266 rs1295862160 |
165 | K>I | No |
ClinGen TOPMed |
|
|
CA338371252 rs1173557399 |
166 | K>* | No |
ClinGen gnomAD |
|
|
CA588532 rs779199557 |
167 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420676943 CA338371225 |
168 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1188654883 CA338371218 |
169 | S>C | No |
ClinGen gnomAD |
|
|
rs755386529 CA588531 |
171 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338371170 rs1452258179 |
172 | F>S | No |
ClinGen gnomAD |
|
|
rs368318709 CA588530 |
173 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs567506950 CA588529 |
173 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368318709 CA17911186 |
173 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144601218 CA17911178 |
176 | H>R | No |
ClinGen ESP TOPMed |
|
|
rs763592571 CA588526 |
178 | K>N | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 179 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308228771 CA338371012 |
179 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA588525 rs762812936 |
180 | I>T | No |
ClinGen ExAC |
|
|
CA338371007 rs1465604202 |
180 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1180763502 CA338370973 |
182 | R>* | No |
ClinGen TOPMed |
|
|
rs752667734 CA588524 |
182 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA588522 rs759298369 |
185 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751394491 CA588521 |
186 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771167237 CA588520 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA588519 COSM1332597 rs760850094 |
188 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA588518 rs773173415 |
188 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203914208 CA338370787 |
191 | I>S | No |
ClinGen gnomAD |
|
|
rs779440785 CA588515 |
195 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA588513 rs201211568 |
195 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA588514 rs201211568 |
195 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751165489 CA588510 |
199 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201992382 CA588508 |
202 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1381346243 CA338370575 |
203 | F>I | No |
ClinGen TOPMed |
|
|
CA338370546 rs1481116802 |
204 | I>T | No |
ClinGen gnomAD |
|
|
CA588507 rs752618220 |
205 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs759423094 CA588505 |
206 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765139647 CA588506 |
206 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA338370481 rs1277278702 |
207 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774004411 CA588503 |
208 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA338370384 rs1299554130 |
212 | L>V | No |
ClinGen gnomAD |
|
|
CA338370370 rs773474927 |
213 | P>S | No |
ClinGen ExAC |
|
|
rs773474927 CA588501 |
213 | P>T | No |
ClinGen ExAC |
|
|
CA17911082 rs957249275 |
214 | Q>K | No |
ClinGen TOPMed |
|
|
CA338370354 rs1463686505 |
214 | Q>R | No |
ClinGen gnomAD |
|
|
CA17910928 rs967160510 |
218 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750658353 CA588481 |
218 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs917177933 CA17910917 |
219 | E>Q | No |
ClinGen TOPMed |
|
|
rs767800183 CA588480 |
221 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA338370223 rs1435342830 |
221 | R>W | No |
ClinGen TOPMed |
|
|
CA338370202 rs1570846754 |
222 | E>G | No |
ClinGen Ensembl |
|
|
CA338370209 rs1287628521 |
222 | E>K | No |
ClinGen gnomAD |
|
|
rs1237314042 CA338370190 |
223 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA338370189 rs1188088244 |
223 | R>H | No |
ClinGen TOPMed |
|
|
CA588479 rs761899497 |
224 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA338370138 rs1426137207 |
226 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA588478 rs774575585 |
226 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303654971 CA338370143 |
226 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA588477 rs146582265 |
227 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs181124834 CA588476 |
227 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338370118 rs1362989620 |
228 | P>S | No |
ClinGen gnomAD |
|
|
rs141507365 CA588472 |
233 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338370030 rs377239514 |
234 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA588471 rs377239514 |
234 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338370007 rs1570846441 |
235 | P>A | No |
ClinGen Ensembl |
|
|
CA588469 rs778411550 |
235 | P>H | No |
ClinGen ExAC |
|
| TCGA novel | 235 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447574971 CA338369925 |
240 | F>C | No |
ClinGen gnomAD |
|
|
CA338369905 rs1213880199 |
241 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA338369913 rs1265221987 |
241 | I>T | No |
ClinGen gnomAD |
|
|
CA588468 rs149484444 |
242 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338369893 rs1487695078 |
242 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA338369878 rs1220612361 |
243 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA588467 rs749259146 |
245 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA588466 rs779940988 |
246 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338369764 rs1342977551 |
249 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1276889765 CA338369734 |
251 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA588464 rs750261100 |
253 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745745287 CA588444 |
255 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA17909788 rs201607390 |
256 | H>L | No |
ClinGen Ensembl |
|
|
CA338369286 rs1182618415 |
257 | P>L | No |
ClinGen TOPMed |
|
|
CA588442 rs751896341 |
257 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA588441 rs751896341 |
257 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA338369237 rs1469865280 |
258 | Y>F | No |
ClinGen TOPMed |
|
|
CA588440 rs142336238 |
259 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143685813 CA588439 |
260 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256629450 CA338369189 |
261 | E>D | No |
ClinGen gnomAD |
|
|
rs752826369 CA588438 |
263 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336178737 CA338369153 |
265 | F>L | No |
ClinGen gnomAD |
|
|
rs1570839460 CA338369136 |
266 | T>P | No |
ClinGen Ensembl |
|
|
rs1020711931 CA17909774 |
269 | D>G | No |
ClinGen Ensembl |
|
|
rs1213021428 CA338369068 |
271 | V>L | No |
ClinGen TOPMed |
|
|
CA17909770 rs573868496 |
272 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588437 rs573868496 |
272 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17909765 rs76301783 |
273 | Q>K | No |
ClinGen Ensembl |
|
|
rs1022141081 CA17909757 |
277 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760108281 CA588436 |
277 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA17909746 rs1009544158 |
278 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA588435 COSM1579416 rs376685578 |
278 | Q>H | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA17909613 rs986383863 |
279 | L>F | No |
ClinGen TOPMed |
|
|
rs767823315 CA588413 |
280 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218313722 CA338368757 |
281 | R>S | No |
ClinGen TOPMed |
|
|
rs144984094 CA17909605 |
282 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144984094 CA588412 |
282 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338368748 rs1488473492 |
282 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1219381244 CA338368726 |
283 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769413193 CA588410 |
284 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA588411 rs774975469 |
284 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588408 rs776148611 |
285 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217239120 CA338368636 |
286 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773160604 CA588405 |
288 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588404 rs771967671 |
291 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM267943 rs1401716129 CA338368552 |
291 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs560051665 CA588403 |
292 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778994543 CA588402 |
293 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs755174282 CA588401 |
295 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749336149 CA588400 |
296 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA338367895 COSM180782 rs1176642616 |
298 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1427899318 CA338367871 |
299 | E>K | No |
ClinGen TOPMed |
|
|
CA338367802 rs577839009 |
301 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA588398 rs143526730 |
301 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1205841 CA338367800 rs767909976 |
302 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA588396 rs767909976 |
302 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488408252 CA338367785 |
303 | K>E | No |
ClinGen TOPMed |
|
|
CA338367761 rs1182504915 |
304 | L>V | No |
ClinGen gnomAD |
|
|
rs764810446 CA588393 |
309 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17909555 rs1035430586 |
310 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1483916848 CA338367621 |
311 | A>V | No |
ClinGen TOPMed |
|
|
rs776034675 CA588391 |
312 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17909454 rs139438019 |
319 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA588370 rs766024300 |
319 | Y>S | No |
ClinGen ExAC |
|
|
rs184017872 CA588368 |
321 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325718295 CA338367324 |
323 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774040253 CA588365 |
329 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 331 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180322160 CA338367224 |
331 | I>V | No |
ClinGen gnomAD |
|
|
rs1456301441 CA338367208 |
332 | S>A | No |
ClinGen gnomAD |
|
|
rs763126341 CA588363 |
333 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763126341 CA338367202 |
333 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769920087 CA588361 |
334 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781180725 CA588359 |
335 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588356 rs778045951 |
337 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA588357 rs747499447 |
337 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA338367121 rs1324549505 |
338 | F>I | No |
ClinGen gnomAD |
|
|
rs1388227095 CA338367062 |
340 | I>V | No |
ClinGen TOPMed |
|
|
CA588355 rs758755785 |
342 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1570836905 CA338366987 |
343 | L>V | No |
ClinGen Ensembl |
|
|
rs1293066429 CA338366969 |
344 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA17909418 rs982533649 |
344 | E>V | No |
ClinGen TOPMed |
|
|
CA338366924 COSM1732846 rs1420353068 |
346 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA588352 rs550973348 |
346 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA588350 rs550973348 |
346 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA588351 rs550973348 |
346 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761709203 CA588349 |
347 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338366907 rs1201656531 |
347 | S>N | No |
ClinGen TOPMed |
|
|
CA17909409 rs969392121 |
348 | D>E | No |
ClinGen TOPMed |
|
|
rs1356199248 CA338366837 |
349 | M>I | No |
ClinGen TOPMed |
|
|
rs763864212 CA588347 |
349 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1242246 CA588348 rs146890007 |
349 | M>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA588346 rs762795777 |
350 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs377044377 CA588343 |
353 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776711983 CA588342 |
354 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1488342977 CA338366732 |
354 | E>K | No |
ClinGen gnomAD |
|
|
CA338366729 rs1488342977 |
354 | E>Q | No |
ClinGen gnomAD |
|
|
rs747506888 CA588340 |
356 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA338366587 rs1557711276 |
359 | P>L | No |
ClinGen Ensembl |
|
|
CA588338 rs772375100 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338366599 rs772375100 |
359 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338366573 rs1297400081 |
360 | A>V | No |
ClinGen TOPMed |
|
|
rs368046763 CA588337 |
361 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588335 rs755857058 |
362 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758354496 CA588312 |
366 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17908249 rs576003269 |
368 | A>V | No |
ClinGen gnomAD |
|
|
rs1189208285 CA338365326 |
373 | E>* | No |
ClinGen gnomAD |
|
|
rs1440332311 CA338365288 |
376 | Q>* | No |
ClinGen gnomAD |
|
|
CA588310 rs765055809 |
379 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA338365231 rs1320667694 |
380 | G>R | No |
ClinGen gnomAD |
|
|
CA588308 rs754062521 |
381 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1570822958 CA338365218 |
381 | L>V | No |
ClinGen Ensembl |
|
|
CA338365147 rs1321570719 |
386 | M>I | No |
ClinGen gnomAD |
|
|
rs1357155516 CA338365157 |
386 | M>V | No |
ClinGen gnomAD |
|
|
CA338365128 rs1168284020 |
388 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760738154 CA588306 |
394 | R>C | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA17908235 rs201756050 |
394 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588305 rs201756050 |
394 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767687151 CA588304 |
396 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1447207340 CA338365010 |
398 | L>V | No |
ClinGen gnomAD |
|
|
rs762452090 CA588302 |
399 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409243900 CA338364973 |
401 | H>L | No |
ClinGen gnomAD |
|
|
rs774998241 CA588301 |
402 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338364942 rs1415080399 |
404 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA338364910 rs1354450513 |
406 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233951599 CA338364887 |
407 | L>R | No |
ClinGen TOPMed |
|
|
CA588295 rs777389949 |
408 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1459384765 CA338364836 |
409 | L>P | No |
ClinGen gnomAD |
|
|
CA338364775 rs757872168 |
412 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588294 rs757872168 |
412 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369723144 CA588292 |
413 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1226660995 CA338364736 |
414 | D>N | No |
ClinGen gnomAD |
|
|
rs1359048856 CA338364707 |
415 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766043102 CA588289 |
416 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA17908206 rs986060129 |
416 | N>K | No |
ClinGen TOPMed |
|
|
rs1378857534 CA338364654 |
417 | K>R | No |
ClinGen gnomAD |
|
|
CA338364606 rs1557706823 |
419 | Y>C | No |
ClinGen Ensembl |
|
|
rs1451503673 CA338364440 |
427 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA588286 rs140464927 |
427 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338364438 rs140464927 |
427 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA588270 rs755859943 |
428 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343054050 CA338363882 |
430 | P>L | No |
ClinGen gnomAD |
|
|
rs556624471 CA588264 |
431 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588265 COSM3975873 rs764219569 |
431 | E>K | lung Variant assessed as Somatic; 9.243e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs534349196 CA17907728 |
433 | M>T | No |
ClinGen 1000Genomes |
|
|
CA338363843 rs1570818192 |
433 | M>V | No |
ClinGen Ensembl |
|
|
CA338363810 rs1197908199 |
435 | S>N | No |
ClinGen gnomAD |
|
|
rs753110986 CA588263 |
436 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA588261 rs759802571 |
437 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447726585 CA338363773 |
437 | A>V | No |
ClinGen TOPMed |
|
|
CA588259 rs771714806 |
438 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588260 COSM893727 rs776918924 |
438 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA588255 rs749319050 |
446 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1342349918 CA338363570 |
446 | Y>H | No |
ClinGen gnomAD |
|
|
CA588254 rs145081029 |
447 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA588252 rs199509210 |
450 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338363455 rs1557705269 |
451 | M>T | No |
ClinGen Ensembl |
|
|
CA338363430 rs1360541343 |
452 | R>S | No |
ClinGen gnomAD |
|
|
rs1180300570 CA338363368 |
456 | W>G | No |
ClinGen TOPMed |
|
|
rs1457901119 CA338363341 |
457 | E>G | No |
ClinGen TOPMed |
|
|
rs781096686 CA588251 |
458 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588250 COSM893726 rs757576637 |
458 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778037063 CA588248 |
459 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA588246 rs202000536 |
461 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338363238 rs1173406235 |
463 | P>L | No |
ClinGen gnomAD |
|
|
CA588243 rs754230703 |
464 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA17907684 rs918748415 |
465 | Q>R | No |
ClinGen TOPMed |
|
|
rs1570817763 CA338363160 |
468 | V>G | No |
ClinGen Ensembl |
|
|
rs569591735 CA17907679 |
469 | V>A | No |
ClinGen 1000Genomes |
|
|
rs569591735 CA338363147 |
469 | V>G | No |
ClinGen 1000Genomes |
|
|
rs773990428 CA338363102 |
472 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773990428 CA588240 |
472 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588241 rs761495943 |
472 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763721440 CA588239 |
473 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338363082 rs1229462068 |
474 | R>G | No |
ClinGen gnomAD |
|
|
CA338363060 rs1305272961 |
475 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA588238 rs374682325 |
476 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338363019 rs774999407 |
477 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA588237 rs774999407 |
477 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380874860 CA338362990 |
479 | K>R | No |
ClinGen gnomAD |
|
|
rs1234449484 CA338362861 |
482 | I>T | No |
ClinGen gnomAD |
|
|
rs1008229449 CA588212 |
482 | I>V | No |
ClinGen Ensembl |
|
|
CA588210 rs533030799 |
485 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567990526 CA588211 |
485 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249768749 CA338362763 |
487 | T>A | No |
ClinGen gnomAD |
|
|
rs748350072 CA588209 |
487 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411713658 CA338362750 |
488 | D>Y | No |
ClinGen gnomAD |
|
|
CA588207 rs755049924 |
492 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338362673 rs1170793381 |
493 | E>K | No |
ClinGen TOPMed |
|
|
rs1570816881 CA338362653 |
494 | L>F | No |
ClinGen Ensembl |
|
|
rs756550367 CA588204 |
495 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369140332 CA588206 |
495 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA588205 rs756550367 |
495 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781571540 CA588202 |
496 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758037091 CA588201 |
497 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17907558 rs1033667636 |
500 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA588199 rs764718931 |
504 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200988527 CA338362479 |
505 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200988527 CA588198 |
505 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA588197 rs753340611 |
508 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766419943 CA588196 |
509 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338362401 rs1335567226 |
510 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 512 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338362340 rs1374378550 |
514 | F>L | No |
ClinGen gnomAD |
|
|
rs1232785918 CA338362336 |
515 | A>S | No |
ClinGen TOPMed |
|
|
rs760644745 CA588195 |
517 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA588193 rs544135616 |
519 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1246705079 CA338362190 |
522 | R>C | No |
ClinGen TOPMed |
|
|
rs1481374464 COSM1294718 CA338362181 |
522 | R>H | urinary_tract Variant assessed as Somatic; 0.000231 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA17907536 rs1049960392 |
528 | Y>N | No |
ClinGen TOPMed |
|
|
CA588191 rs373113049 |
529 | G>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA588190 CA588189 rs373113049 |
529 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1336017162 CA338361808 |
530 | Y>* | No |
ClinGen gnomAD |
|
|
rs1268665852 CA338361796 |
531 | V>A | No |
ClinGen TOPMed |
|
|
rs1439853315 CA338361744 |
535 | H>Q | No |
ClinGen gnomAD |
|
|
rs1165643207 CA338361694 |
539 | K>E | No |
ClinGen gnomAD |
|
|
CA338361664 rs1217852912 |
543 | E>* | No |
ClinGen TOPMed |
|
|
CA338361665 rs1217852912 |
543 | E>Q | No |
ClinGen TOPMed |
|
|
CA588094 rs751467688 |
547 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304412907 CA338361622 |
548 | P>A | No |
ClinGen gnomAD |
|
|
CA588092 rs758178710 |
550 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA338361599 rs1159328740 |
551 | I>S | No |
ClinGen gnomAD |
|
|
rs752429280 CA588091 |
554 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371005817 CA588089 |
559 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA588090 rs765500336 |
559 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA338361542 rs1271213234 |
560 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338361543 rs1456986434 |
560 | P>S | No |
ClinGen TOPMed |
|
|
CA588086 rs761301223 |
561 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338361536 rs1570812819 |
561 | L>P | No |
ClinGen Ensembl |
|
|
CA17907064 rs977936486 |
562 | V>A | No |
ClinGen Ensembl |
|
|
rs550162161 CA588085 |
562 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748531214 CA588083 |
563 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM893725 rs758004113 CA588084 |
563 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA338361527 rs1281876916 |
564 | Q>* | No |
ClinGen gnomAD |
|
|
rs1289573405 CA338361515 |
565 | Q>R | No |
ClinGen TOPMed |
|
|
CA588081 rs769513313 |
566 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 566 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780795387 CA588079 |
568 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338361489 rs1344267746 |
569 | M>V | No |
ClinGen gnomAD |
|
|
rs1289099407 CA338361478 |
570 | H>P | No |
ClinGen gnomAD |
|
|
CA17907049 rs192869751 |
574 | Q>K | No |
ClinGen 1000Genomes |
|
|
CA338361451 rs1432376256 |
574 | Q>P | No |
ClinGen gnomAD |
|
|
CA338361437 rs1343871733 |
576 | A>T | No |
ClinGen gnomAD |
|
|
rs1318059092 CA338361435 |
576 | A>V | No |
ClinGen gnomAD |
|
|
COSM893724 rs770343987 CA588078 |
577 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA17907046 rs770343987 |
577 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338361432 rs747009008 |
577 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588077 rs747009008 |
577 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777699191 CA588076 |
579 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA588075 rs758264592 |
580 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA338361397 rs1299467016 |
583 | K>E | No |
ClinGen gnomAD |
|
|
rs1246186883 CA338360561 |
584 | S>F | No |
ClinGen gnomAD |
|
|
CA588052 rs780145983 |
584 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs933535103 CA17906289 |
587 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1313351041 CA338360530 |
587 | A>V | No |
ClinGen gnomAD |
|
|
rs922268756 CA17906288 |
588 | A>V | No |
ClinGen TOPMed |
|
|
rs373219143 CA588050 |
589 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338360269 rs1300371800 |
590 | V>E | No |
ClinGen gnomAD |
|
|
CA588049 rs767687056 |
591 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386924993 CA338360220 |
594 | G>E | No |
ClinGen gnomAD |
|
|
CA588046 COSM1470109 rs530179972 |
594 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA588044 rs763242429 |
595 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338360212 rs763242429 |
595 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764579571 CA588045 |
595 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1247663570 CA338360202 |
596 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 597 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770600679 CA588042 |
598 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338360162 rs1557700817 |
600 | E>K | No |
ClinGen Ensembl |
|
|
rs1323159384 CA338360139 |
601 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1553165516 CA588015 |
602 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 603 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773873451 CA588013 |
603 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA588012 rs768502027 |
604 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA588011 rs749227398 |
606 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs372601184 CA588010 |
609 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA17906190 rs1047850762 |
609 | P>S | No |
ClinGen TOPMed |
|
|
rs369539353 CA17906180 |
611 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA338360077 rs369539353 |
611 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs976099323 CA17906177 |
612 | C>R | No |
ClinGen Ensembl |
|
|
CA588008 rs746153780 |
613 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426503877 CA338360049 |
615 | A>P | No |
ClinGen gnomAD |
|
|
CA588007 rs199634937 |
617 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA338360036 rs1451726618 |
617 | P>S | No |
ClinGen TOPMed |
|
|
rs1264358180 CA338360022 |
619 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA338360020 rs1264358180 |
619 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA338360017 rs1218942257 |
620 | Y>D | No |
ClinGen TOPMed |
|
|
rs747087664 CA588005 |
621 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs966108022 CA17906171 |
621 | P>T | No |
ClinGen Ensembl |
|
|
CA588004 rs777857502 |
622 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA338360000 rs1264331321 |
623 | I>V | No |
ClinGen gnomAD |
|
|
CA338359981 rs1321516035 |
626 | S>G | No |
ClinGen gnomAD |
|
|
rs1166337913 CA338359957 |
628 | S>P | No |
ClinGen gnomAD |
|
|
CA17905980 rs1016230251 |
628 | S>Y | No |
ClinGen TOPMed |
|
|
CA338359535 rs1400658701 |
629 | V>M | No |
ClinGen Ensembl |
|
|
CA587975 rs372778448 |
630 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA587974 rs756900921 |
630 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587973 rs751220639 |
634 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338359430 rs1570804686 |
634 | Q>R | No |
ClinGen Ensembl |
|
|
CA338359411 rs763574577 |
635 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA587972 rs763574577 |
635 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752190706 CA587970 |
636 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA17905970 rs149349714 |
637 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA338359372 rs149349714 |
637 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1249342540 CA338359326 |
639 | P>R | No |
ClinGen gnomAD |
|
|
CA338359272 rs1204778054 |
642 | K>E | No |
ClinGen gnomAD |
|
|
CA17905968 rs998124832 |
644 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1353934940 CA338359199 |
645 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA587966 rs145033383 |
647 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199670680 CA587965 |
649 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408895830 CA338359135 |
650 | T>A | No |
ClinGen gnomAD |
|
|
rs370147496 CA587964 |
651 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748229694 CA587962 |
653 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1159719250 CA338359067 |
656 | A>T | No |
ClinGen gnomAD |
|
|
rs1412358660 CA338359055 |
657 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA587960 rs769202354 |
658 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs368146460 CA587961 |
658 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374057128 CA338359031 |
659 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM180778 CA587958 rs780351106 |
659 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs374057128 CA587959 |
659 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369040494 CA587956 |
660 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224331112 CA338358976 |
662 | N>D | No |
ClinGen gnomAD |
|
|
CA17929124 rs199827455 |
665 | S>R | No |
ClinGen TOPMed |
|
|
rs977674195 CA17929109 |
666 | A>S | No |
ClinGen Ensembl |
|
|
CA587930 rs768902618 |
668 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570798690 CA338412062 |
669 | S>G | No |
ClinGen Ensembl |
|
|
CA587928 rs766344461 |
669 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA338412055 rs1215320219 |
670 | K>E | No |
ClinGen gnomAD |
|
|
CA338412044 rs1468898733 |
671 | K>R | No |
ClinGen gnomAD |
|
|
CA338412037 rs1461693434 |
672 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1231327618 CA338412022 |
674 | L>F | No |
ClinGen gnomAD |
|
|
CA338412005 rs138641610 |
677 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA17929065 rs138641610 |
677 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA338412003 rs1330619368 |
678 | Q>E | No |
ClinGen gnomAD |
|
|
rs767187447 CA587925 |
679 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 681 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762091192 CA587924 |
681 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774543369 CA587923 |
682 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA587922 rs764243431 |
683 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763029017 CA587921 |
684 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA338411958 rs1237961239 |
684 | I>T | No |
ClinGen gnomAD |
|
|
rs775396880 CA338411956 CA587920 |
685 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs775396880 CA17929006 |
685 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA338411885 rs1164512014 |
690 | N>I | No |
ClinGen TOPMed |
|
|
rs188058548 CA587918 |
691 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338411868 rs1172887983 |
692 | F>L | No |
ClinGen gnomAD |
|
|
CA587917 rs367775278 |
694 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA587893 rs768443779 |
696 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1264048663 CA338411678 |
697 | P>S | No |
ClinGen gnomAD |
|
|
rs1318027547 CA338411651 |
698 | S>L | No |
ClinGen gnomAD |
|
|
CA338411646 rs1290702626 |
699 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA587890 rs200670819 |
700 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587889 rs745325342 |
701 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557696620 CA338411597 |
702 | R>C | No |
ClinGen Ensembl |
|
|
rs117771172 CA587888 |
702 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338411584 rs1392697405 |
703 | A>T | No |
ClinGen gnomAD |
|
|
rs147771843 CA587886 |
704 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147771843 CA587887 |
704 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752855218 COSM893720 CA587883 |
705 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1204010033 CA338411536 |
706 | S>C | No |
ClinGen gnomAD |
|
|
rs765413962 CA587882 |
709 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338411477 rs1471324169 |
709 | A>V | No |
ClinGen gnomAD |
|
|
CA587879 rs761215129 |
712 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587878 rs761215129 |
712 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17928450 rs369390713 |
714 | S>* | No |
ClinGen ESP TOPMed |
|
|
CA587875 rs115976717 |
715 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115976717 CA338411360 |
715 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464897014 CA338411355 |
715 | T>S | No |
ClinGen TOPMed |
|
|
rs775018603 CA587874 |
717 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA587873 rs772373112 |
718 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA338410759 rs1228348083 |
720 | I>V | No |
ClinGen gnomAD |
|
|
rs905091611 CA17926653 |
722 | N>S | No |
ClinGen gnomAD |
|
|
CA338410736 rs1365749990 |
723 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA587842 rs764823141 |
723 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764823141 CA338410734 |
723 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587840 rs776162299 |
725 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA338410712 rs770427032 |
727 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA587839 rs770427032 |
727 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338410704 rs1171695597 |
728 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338410697 rs1430970843 |
729 | V>E | No |
ClinGen TOPMed |
|
|
CA587838 rs747004649 |
729 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs563214059 CA587837 |
732 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 734 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167074671 CA338410656 |
735 | S>P | No |
ClinGen gnomAD |
|
|
rs541953781 CA587835 |
739 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338410620 rs1190138912 |
740 | K>R | No |
ClinGen gnomAD |
|
|
CA338410607 rs1255537872 |
742 | K>E | No |
ClinGen gnomAD |
|
|
rs778719312 CA587834 |
742 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA587832 rs755203894 |
747 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338410568 rs1341115066 |
748 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 748 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160473727 CA338410218 |
749 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM244327 CA17925336 rs891750954 |
750 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs201491928 CA587812 |
750 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478460789 CA338410150 |
752 | Q>L | No |
ClinGen gnomAD |
|
|
CA338410100 rs1570788263 |
755 | E>Q | No |
ClinGen Ensembl |
|
|
CA587811 rs770101537 |
756 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs745967792 CA587810 |
756 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346701462 CA338410052 |
757 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs374822877 CA587806 |
758 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330671787 CA338410009 |
760 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1369306466 CA338409992 |
760 | A>V | No |
ClinGen TOPMed |
|
|
rs758771389 CA587805 |
761 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA338409949 rs1367898275 |
763 | Q>R | No |
ClinGen gnomAD |
|
|
rs752989060 CA587803 |
765 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs146064535 CA587801 |
767 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA587799 rs767021082 |
768 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369320262 CA587798 |
768 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774331545 CA587797 |
769 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA587796 rs753307275 |
772 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753307275 CA587795 |
772 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770987829 CA587771 |
774 | E>G | No |
ClinGen ExAC |
|
|
CA587768 rs773225231 |
781 | E>G | No |
ClinGen ExAC |
|
|
CA587767 rs772613159 |
782 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748622049 CA587766 |
782 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1188033395 CA338409407 |
783 | A>T | No |
ClinGen gnomAD |
|
|
rs779315339 CA587765 |
784 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991324336 CA17923923 |
785 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1375970416 CA338409388 |
785 | S>R | No |
ClinGen TOPMed |
|
|
rs952090050 CA17923910 |
786 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780930127 CA587762 |
788 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA338409329 rs1371440246 |
789 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA17923879 rs369984967 |
792 | Q>* | No |
ClinGen ESP |
|
|
CA587761 rs756811037 |
794 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1169738528 CA338409222 |
798 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 801 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751132534 CA587759 |
802 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587757 rs758478602 |
806 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA587758 rs758478602 |
806 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752672802 CA587756 |
807 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs184500057 CA587755 |
808 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203486809 CA338409119 |
809 | E>A | No |
ClinGen TOPMed |
|
|
CA587754 rs759376992 |
811 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1482310330 CA338409096 |
813 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 813 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 815 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA587752 rs766643284 |
816 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570783776 CA338409073 |
816 | T>P | No |
ClinGen Ensembl |
|
|
CA587750 rs773319678 |
817 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587747 rs149082475 CA587748 |
818 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338409057 rs150363329 |
819 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587745 rs150363329 |
819 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408229310 CA338409047 |
820 | Y>S | No |
ClinGen gnomAD |
|
|
CA338409041 rs1368516804 |
821 | S>G | No |
ClinGen gnomAD |
|
|
CA338409026 rs1297375167 |
823 | S>T | No |
ClinGen gnomAD |
|
|
CA587744 rs780261334 |
824 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA587743 rs192611779 |
825 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192611779 CA17923783 |
825 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA587742 rs549838469 |
827 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338408978 rs1172431069 |
830 | G>* | No |
ClinGen Ensembl |
|
|
rs1349960603 CA338408656 |
831 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1256824588 CA338408647 |
832 | S>N | No |
ClinGen gnomAD |
|
|
CA338408631 rs1235678806 |
834 | S>F | No |
ClinGen gnomAD |
|
|
CA338408626 rs1313805292 |
835 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA17922901 rs900039742 |
836 | V>F | No |
ClinGen Ensembl |
|
|
rs1300940593 CA338408618 |
836 | V>G | No |
ClinGen gnomAD |
|
|
rs778262512 CA587716 |
837 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs754980084 CA587715 |
842 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA338408571 rs1322412230 |
843 | N>K | No |
ClinGen gnomAD |
|
|
rs753713314 CA587714 |
844 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA587712 rs147762859 |
847 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338408537 rs1376333731 |
849 | G>S | No |
ClinGen gnomAD |
|
|
rs767749924 CA587710 |
850 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA338408526 rs1570780702 |
850 | K>N | No |
ClinGen Ensembl |
|
|
CA338408504 rs1265969677 |
852 | C>R | No |
ClinGen Ensembl |
|
|
rs141991610 CA587687 |
852 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA587686 rs765858127 |
853 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA17922047 rs976767847 |
854 | A>T | No |
ClinGen Ensembl |
|
|
CA587685 rs141459158 |
857 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1194058340 | 858 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444271736 CA338408446 |
860 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1444271736 CA338408445 |
860 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA587684 rs777173257 COSM1332547 |
861 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1284668438 CA338408441 |
861 | S>P | No |
ClinGen gnomAD |
|
|
CA338408433 rs1166842542 |
862 | V>E | No |
ClinGen TOPMed |
|
|
rs185396251 CA338408436 |
862 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA17922035 rs185396251 |
862 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1372839283 CA338408429 |
863 | G>E | No |
ClinGen gnomAD |
|
|
CA17922022 rs200416216 |
865 | K>R | No |
ClinGen TOPMed |
|
|
CA338408408 rs1172097710 |
866 | S>T | No |
ClinGen TOPMed |
|
|
rs768287039 CA587680 |
869 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA338408381 rs1392117021 |
870 | P>T | No |
ClinGen gnomAD |
|
|
rs748780044 CA587679 |
871 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338408373 rs1459997348 |
871 | T>N | No |
ClinGen gnomAD |
|
|
rs1417250164 CA338408368 |
872 | G>E | No |
ClinGen gnomAD |
|
|
CA17921998 rs1018782839 |
872 | G>R | No |
ClinGen Ensembl |
|
|
CA587677 rs769764712 |
873 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1249831171 | 875 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249831171 CA338408345 |
875 | D>E | No |
ClinGen gnomAD |
|
|
CA338408341 rs1179437588 |
876 | R>T | No |
ClinGen gnomAD |
|
|
rs1238729096 CA338408077 |
877 | G>D | No |
ClinGen TOPMed |
|
|
rs1276955481 CA338408081 |
877 | G>R | No |
ClinGen gnomAD |
|
|
CA338408065 rs1439103854 |
879 | R>K | No |
ClinGen gnomAD |
|
|
rs1187594102 CA338408062 |
879 | R>S | No |
ClinGen TOPMed |
|
|
CA338408054 rs1370949520 |
880 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA338408046 rs1437384315 |
881 | N>K | No |
ClinGen gnomAD |
|
|
CA587650 rs144788352 |
881 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 884 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA587648 rs755120538 |
884 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1317980867 CA338408022 |
885 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779194796 CA17920392 |
885 | R>K | No |
ClinGen TOPMed |
|
|
rs779194796 CA338408021 |
885 | R>T | No |
ClinGen TOPMed |
No associated diseases with Q01780
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime processive hydrolytic exoribonuclease activity producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| euchromatin | A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. |
| exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime exoribonuclease activity and possibly endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime processive and distributive hydrolytic exoribonuclease activity and endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| nucleolar exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime distributive hydrolytic exoribonuclease activity and in some taxa (e.g. yeast) endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule. |
| exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 5' or 3' terminus of an RNA molecule. |
| nucleotide binding | Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| telomerase RNA binding | Binding to the telomerase RNA template. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| CUT catabolic process | The chemical reactions and pathways resulting in the breakdown of cryptic unstable transcripts (CUTs). |
| dosage compensation by inactivation of X chromosome | Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex. |
| exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Exonucleolytic digestion of a pre-rRNA molecule to generate the mature 3'-end of a 5.8S rRNA molecule derived from an originally tricistronic pre-rRNA transcript that contained the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript. |
| histone mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of histone messenger RNA (mRNA). |
| maturation of 5.8S rRNA | Any process involved in the maturation of a precursor 5.8S ribosomal RNA (rRNA) molecule into a mature 5.8S rRNA molecule. |
| negative regulation of telomere maintenance via telomerase | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
| nuclear mRNA surveillance | A process that identifies and degrades defective or aberrant mRNAs within the nucleus. |
| nuclear polyadenylation-dependent antisense transcript catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of an antisense transcript, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target antisense transcript. |
| nuclear polyadenylation-dependent CUT catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a cryptic unstable transcript (CUT), initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target CUT. |
| nuclear polyadenylation-dependent rRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a ribosomal RNA (rRNA) molecule, including RNA fragments released as part of processing the primary transcript into multiple mature rRNA species, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target rRNA. |
| nuclear polyadenylation-dependent snoRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a small nucleolar RNA (snoRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target snoRNA. |
| nuclear polyadenylation-dependent snRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a small nuclear RNA (snRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target snRNA. |
| nuclear polyadenylation-dependent tRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of an aberrant or incorrectly modified transfer RNA (tRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target tRNA. |
| nuclear-transcribed mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of nuclear-transcribed mRNAs in eukaryotic cells. |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins. |
| polyadenylation-dependent snoRNA 3'-end processing | Any process involved in forming the mature 3' end of a snoRNA molecule linked to prior polyadenylation of the 3'-end of the precursor snoRNA. |
| regulation of telomerase RNA localization to Cajal body | Any process that modulates the frequency, rate or extent of telomerase RNA localization to Cajal body. |
| RNA catabolic process | The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPPSTREPR | VLSATSATKS | DGEMVLPGFP | DADSFVKFAL | GSVVAVTKAS | GGLPQFGDEY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DFYRSFPGFQ | AFCETQGDRL | LQCMSRVMQY | HGCRSNIKDR | SKVTELEDKF | DLLVDANDVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LERVGILLDE | ASGVNKNQQP | VLPAGLQVPK | TVVSSWNRKA | AEYGKKAKSE | TFRLLHAKNI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IRPQLKFREK | IDNSNTPFLP | KIFIKPNAQK | PLPQALSKER | RERPQDRPED | LDVPPALADF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IHQQRTQQVE | QDMFAHPYQY | ELNHFTPADA | VLQKPQPQLY | RPIEETPCHF | ISSLDELVEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NEKLLNCQEF | AVDLEHHSYR | SFLGLTCLMQ | ISTRTEDFII | DTLELRSDMY | ILNESLTDPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IVKVFHGADS | DIEWLQKDFG | LYVVNMFDTH | QAARLLNLGR | HSLDHLLKLY | CNVDSNKQYQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LADWRIRPLP | EEMLSYARDD | THYLLYIYDK | MRLEMWERGN | GQPVQLQVVW | QRSRDICLKK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FIKPIFTDES | YLELYRKQKK | HLNTQQLTAF | QLLFAWRDKT | ARREDESYGY | VLPNHMMLKI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AEELPKEPQG | IIACCNPVPP | LVRQQINEMH | LLIQQAREMP | LLKSEVAAGV | KKSGPLPSAE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLENVLFGPH | DCSHAPPDGY | PIIPTSGSVP | VQKQASLFPD | EKEDNLLGTT | CLIATAVITL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FNEPSAEDSK | KGPLTVAQKK | AQNIMESFEN | PFRMFLPSLG | HRAPVSQAAK | FDPSTKIYEI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SNRWKLAQVQ | VQKDSKEAVK | KKAAEQTAAR | EQAKEACKAA | AEQAISVRQQ | VVLENAAKKR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ERATSDPRTT | EQKQEKKRLK | ISKKPKDPEP | PEKEFTPYDY | SQSDFKAFAG | NSKSKVSSQF |
| 850 | 860 | 870 | 880 | ||
| DPNKQTPSGK | KCIAAKKIKQ | SVGNKSMSFP | TGKSDRGFRY | NWPQR |