Q75QN2
PR
Gene name |
INTS8 (C8orf52) |
Protein name |
Integrator complex subunit 8 |
Names |
Int8, Protein kaonashi-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55656 |
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
640 variants for Q75QN2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs193920861 RCV000149247 |
56 | E>missing | Malignant tumor of prostate [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190147 CA204096 rs796052157 |
162 | K>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_083358 CA371737470 rs1586479593 RCV000850274 |
298 | D>G | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity NEDCHS; occurs in a splice site resulting in altered splicing and probable nonsense-mediated mRNA decay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1586540615 RCV000850275 |
973 | E>missing | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083359 | 973 | E>del | NEDCHS; alters the assembly of the Integrator complex [UniProt] | Yes | UniProt |
|
rs780258682 CA4813212 |
8 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1368871665 CA371729805 |
12 | T>I | No |
ClinGen gnomAD |
|
|
CA181436045 rs1015223841 |
12 | T>P | No |
ClinGen gnomAD |
|
|
CA371729817 rs1476897348 |
13 | S>C | No |
ClinGen gnomAD |
|
|
CA181436054 rs962987968 |
13 | S>P | No |
ClinGen gnomAD |
|
|
CA181436055 rs1013377210 |
14 | S>I | No |
ClinGen TOPMed |
|
|
CA371729833 rs1285092989 |
15 | R>G | No |
ClinGen TOPMed |
|
|
CA371729835 rs1285092989 |
15 | R>W | No |
ClinGen TOPMed |
|
|
CA181436061 rs974318095 |
18 | T>P | No |
ClinGen Ensembl |
|
|
CA371729882 rs1156507160 |
19 | P>A | No |
ClinGen gnomAD |
|
|
rs1304117034 CA371729900 |
20 | P>L | No |
ClinGen gnomAD |
|
|
rs1554603366 CA371729952 |
24 | W>* | No |
ClinGen Ensembl |
|
|
rs1457330804 CA371729959 |
24 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs776651574 CA4813215 |
28 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA4813216 rs202080432 |
32 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868819375 CA181436080 |
33 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1385562981 CA371730116 |
35 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1226730219 CA371730120 |
36 | K>E | No |
ClinGen gnomAD |
|
|
rs748463684 CA181436086 |
38 | L>M | No |
ClinGen TOPMed |
|
|
rs769633903 CA4813217 |
39 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371730206 rs1431532174 |
42 | C>F | No |
ClinGen TOPMed |
|
|
rs1287866192 CA371730219 |
43 | P>L | No |
ClinGen gnomAD |
|
|
rs1586460342 CA371730468 |
44 | D>V | No |
ClinGen Ensembl |
|
|
CA4813236 rs772965761 |
45 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4813237 rs749115981 |
46 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371730480 rs1164726222 |
46 | A>V | No |
ClinGen gnomAD |
|
|
rs771277697 CA181437860 |
49 | Q>E | No |
ClinGen Ensembl |
|
|
CA371730510 rs1307787838 |
51 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371730523 rs1586460386 |
53 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 56 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393289860 CA371730544 |
56 | E>K | No |
ClinGen gnomAD |
|
|
CA4813240 rs565432232 |
57 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371730573 rs1339892585 |
60 | K>R | No |
ClinGen gnomAD |
|
|
CA4813241 rs767051737 |
63 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918855384 CA181437875 |
67 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317300728 CA371730638 |
69 | V>G | No |
ClinGen gnomAD |
|
|
rs151102552 CA4813244 |
70 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813242 rs369063673 |
70 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371730656 rs1273648730 |
72 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1273648730 CA371730654 |
72 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA371730661 rs1394318489 |
73 | P>R | No |
ClinGen TOPMed |
|
|
CA371730664 rs1197122600 |
74 | D>H | No |
ClinGen gnomAD |
|
|
CA371730665 rs1197122600 |
74 | D>Y | No |
ClinGen gnomAD |
|
|
CA371730678 rs1253674435 |
75 | N>K | No |
ClinGen gnomAD |
|
|
CA4813246 rs758853637 |
78 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426987266 COSM1102663 CA371730703 |
79 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 80 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947831994 CA181437948 |
91 | H>R | No |
ClinGen TOPMed |
|
|
rs1020001229 CA181437941 |
91 | H>Y | No |
ClinGen Ensembl |
|
|
CA4813249 rs755220058 |
93 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1280301612 CA371730863 |
94 | W>R | No |
ClinGen TOPMed |
|
|
CA371730906 rs1373934114 |
96 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371730916 rs1217055655 |
97 | D>N | No |
ClinGen TOPMed |
|
|
CA4813250 rs781314077 |
98 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376914681 CA4813253 |
101 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 102 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242248107 CA371731406 |
105 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4813276 rs778747564 |
110 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs757244580 CA4813275 |
110 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA371731491 rs1465277827 |
113 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487128298 CA371731543 |
118 | I>V | No |
ClinGen gnomAD |
|
|
rs1210723173 CA371731556 |
119 | S>R | No |
ClinGen gnomAD |
|
|
COSM328735 rs1190045944 CA371731567 |
120 | K>E | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA371731602 rs779594257 |
123 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813279 rs779594257 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322678140 CA371731639 |
126 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1201800178 CA371731662 |
128 | V>A | No |
ClinGen gnomAD |
|
|
rs776344019 CA4813282 |
129 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1388195228 CA371731673 |
129 | D>V | No |
ClinGen TOPMed |
|
|
rs771388344 CA4813284 |
130 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181440179 rs758875840 |
131 | D>N | No |
ClinGen Ensembl |
|
|
CA371731705 rs1563639173 |
132 | L>V | No |
ClinGen Ensembl |
|
|
CA4813285 rs149807637 |
133 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813287 rs767724233 |
134 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759843814 CA4813286 |
134 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352508140 CA371731735 |
135 | L>S | No |
ClinGen Ensembl |
|
|
rs752871566 CA4813288 |
137 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348215879 CA371731802 |
143 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4813290 rs764147184 |
146 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4813308 rs775894659 |
150 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4813307 rs775894659 |
150 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368541220 CA4813309 |
151 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371731881 rs1304084212 |
153 | T>A | No |
ClinGen Ensembl |
|
|
CA371731888 rs1234842980 |
154 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1482419964 CA371731909 |
157 | S>C | No |
ClinGen gnomAD |
|
|
CA4813310 rs372034182 |
157 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA181440671 rs954982287 |
158 | S>C | No |
ClinGen TOPMed |
|
|
rs765163153 CA4813312 |
158 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1445162906 CA371731929 |
160 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371731941 rs796052157 |
162 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs796052157 CA371731940 |
162 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA371731951 rs1388027926 |
163 | Q>R | No |
ClinGen gnomAD |
|
|
rs1441163100 CA371731959 |
164 | A>G | No |
ClinGen TOPMed |
|
|
CA371731978 rs1385835112 |
167 | G>A | No |
ClinGen gnomAD |
|
|
rs758426501 CA4813314 |
167 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754643472 CA371731980 |
168 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754643472 CA4813317 |
168 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781019304 CA4813318 |
171 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1311719361 CA371732172 |
174 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767215093 CA4813336 |
175 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA371732267 rs752396776 |
178 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA371732325 rs1446345033 |
182 | E>K | No |
ClinGen gnomAD |
|
|
rs989809476 CA181441760 |
183 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029799475 CA181441765 |
187 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750779114 CA4813339 |
189 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813340 rs753429978 |
190 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs780470909 CA371733344 |
192 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs756805905 CA4813362 |
192 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4813363 rs780470909 |
192 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1008646023 CA181444041 |
193 | E>G | No |
ClinGen Ensembl |
|
|
rs1204441911 CA371733365 |
194 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 194 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181444048 rs748176236 |
195 | A>T | No |
ClinGen TOPMed |
|
|
rs1350124947 CA371733397 |
196 | A>V | No |
ClinGen Ensembl |
|
|
rs752055122 CA4813364 |
198 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377738957 CA4813365 |
199 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377738957 CA4813366 |
199 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371733477 rs1370336308 |
204 | A>G | No |
ClinGen TOPMed |
|
|
rs140588875 CA4813370 |
209 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482386979 CA371733535 |
213 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA371733824 rs1370919543 |
215 | H>N | No |
ClinGen TOPMed |
|
|
rs771133747 CA4813371 |
216 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA181444088 rs145640930 |
217 | M>I | No |
ClinGen ESP |
|
|
CA4813373 rs759527863 |
219 | T>A | No |
ClinGen ExAC |
|
|
CA371733961 rs1181682238 |
225 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813375 rs775108211 |
227 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181444126 rs951927080 |
228 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 230 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440939222 CA371734108 |
231 | N>D | No |
ClinGen Ensembl |
|
|
CA371734138 rs1380361301 |
232 | G>E | No |
ClinGen TOPMed |
|
|
rs866996340 CA181444171 |
233 | E>G | No |
ClinGen Ensembl |
|
|
CA371734219 rs1164781446 |
236 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4813378 rs753534590 |
236 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371734223 rs1164781446 |
236 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1483769375 CA371734247 |
237 | S>C | No |
ClinGen TOPMed |
|
|
CA4813380 rs201252065 |
238 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167520268 CA371734262 |
238 | T>I | No |
ClinGen gnomAD |
|
|
CA4813381 rs201252065 |
238 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371734257 rs201252065 |
238 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181444198 rs988246379 |
239 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs539554395 CA181444203 |
240 | G>E | No |
ClinGen Ensembl |
|
|
rs186708108 CA4813383 |
241 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA181444211 rs1033678962 |
244 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371734338 rs1411782822 |
245 | T>A | No |
ClinGen gnomAD |
|
|
rs1451754014 CA371734343 |
245 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813386 rs537317808 |
246 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778068612 CA4813387 |
249 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778068612 CA371734433 |
249 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1250599172 CA371734448 |
249 | Q>R | No |
ClinGen gnomAD |
|
|
CA371734486 rs1381064472 |
251 | Q>R | No |
ClinGen TOPMed |
|
|
CA4813414 rs758511855 |
258 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4813413 rs370466637 |
258 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370466637 CA4813412 |
258 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219939004 CA371736476 |
262 | Q>H | No |
ClinGen gnomAD |
|
|
rs1480914442 CA371736526 |
265 | S>C | No |
ClinGen gnomAD |
|
|
rs780066941 CA4813416 |
270 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4813418 rs768522808 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA371736590 rs1288232977 |
273 | N>Y | No |
ClinGen gnomAD |
|
|
rs370048441 CA4813419 |
279 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769384020 CA4813421 |
284 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813422 rs772862347 |
285 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371736748 rs1284563871 |
286 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781125023 CA4813436 |
289 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs945056345 CA181455035 |
291 | L>S | No |
ClinGen TOPMed |
|
|
CA4813438 rs769579185 |
292 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748920409 CA4813440 |
297 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371737460 rs1384324045 |
298 | D>H | No |
ClinGen gnomAD |
|
|
rs1352378183 CA371737541 |
301 | R>Q | No |
ClinGen gnomAD |
|
|
CA4813442 rs773875408 |
301 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1343261901 CA371737633 |
305 | Y>C | No |
ClinGen TOPMed |
|
|
CA4813444 rs562023912 |
306 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762478454 CA4813446 |
310 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763202526 CA4813449 |
313 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA181455117 rs1007270215 |
315 | S>F | No |
ClinGen TOPMed |
|
|
rs751609337 CA4813451 |
319 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813452 rs755022101 |
320 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755022101 CA4813453 |
320 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371738032 rs1563647104 |
324 | T>A | No |
ClinGen Ensembl |
|
|
CA4813455 rs756094745 |
325 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813456 rs777515344 |
327 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1445215431 CA371738106 |
327 | S>R | No |
ClinGen gnomAD |
|
|
CA371738117 rs1159011550 COSM3779431 |
328 | Q>E | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4813457 rs749072336 |
328 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770573037 CA4813458 |
330 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427487499 CA371738178 |
331 | I>T | No |
ClinGen gnomAD |
|
|
rs550816890 CA4813459 |
332 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371738188 rs550816890 |
332 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs975799330 CA181455207 |
335 | S>C | No |
ClinGen Ensembl |
|
|
rs965791781 CA181455202 |
335 | S>P | No |
ClinGen Ensembl |
|
|
CA371738232 rs1177481501 |
336 | G>V | No |
ClinGen TOPMed |
|
|
CA4813460 rs570684449 |
337 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771705955 CA4813461 |
338 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371738260 rs1407452097 |
339 | Q>E | No |
ClinGen gnomAD |
|
|
CA4813475 rs143590735 |
341 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4813476 rs188240260 |
342 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA371738550 rs1223139654 |
342 | I>V | No |
ClinGen gnomAD |
|
|
rs934303615 CA181457978 |
345 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1245428775 CA371738575 |
345 | F>L | No |
ClinGen gnomAD |
|
|
CA371738579 rs1347289089 |
346 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778837794 CA4813477 |
346 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371738578 rs1347289089 |
346 | I>V | No |
ClinGen gnomAD |
|
|
CA371738618 rs1446388531 |
351 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs745497753 CA4813478 |
355 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs745497753 CA4813479 |
355 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1198319891 CA371738664 |
358 | F>L | No |
ClinGen gnomAD |
|
|
rs1192451883 CA371738680 |
359 | R>* | No |
ClinGen gnomAD |
|
|
CA4813481 rs746546380 |
359 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs181055782 CA4813484 |
360 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181055782 CA4813483 |
360 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1053450867 CA181458086 |
362 | V>A | No |
ClinGen TOPMed |
|
|
CA4813485 rs77694204 |
362 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77694204 CA371738712 |
362 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401811450 CA371738727 |
363 | L>R | No |
ClinGen gnomAD |
|
|
CA181458104 rs111400309 |
364 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371738735 rs1339438994 |
364 | R>K | No |
ClinGen TOPMed |
|
|
CA371738793 rs1304032876 |
367 | F>L | No |
ClinGen gnomAD |
|
|
CA371738782 rs1586483777 |
367 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 372 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775500307 CA4813490 |
372 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4813512 rs148042462 |
378 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370565362 CA371739661 |
379 | E>A | No |
ClinGen gnomAD |
|
|
CA4813513 rs373541371 |
381 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371739710 rs1357511938 |
381 | C>Y | No |
ClinGen gnomAD |
|
|
CA371739758 rs1401090166 |
383 | K>E | No |
ClinGen gnomAD |
|
|
CA371739817 rs1467216104 |
386 | A>S | No |
ClinGen gnomAD |
|
|
CA371739823 rs1334821577 |
386 | A>V | No |
ClinGen gnomAD |
|
|
rs200548356 CA4813514 |
387 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371739831 rs1343069777 |
387 | C>S | No |
ClinGen TOPMed |
|
|
CA4813515 rs765249039 |
390 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262305727 CA371739851 |
390 | V>L | No |
ClinGen TOPMed |
|
|
rs141741750 CA4813516 |
391 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813517 rs182178701 |
391 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371739865 rs1296091192 |
392 | D>E | No |
ClinGen Ensembl |
|
|
rs766058902 CA4813518 |
393 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371739868 rs1224764556 |
393 | I>V | No |
ClinGen gnomAD |
|
|
CA371739879 rs1318190202 |
395 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1219881061 CA371739886 |
396 | G>S | No |
ClinGen gnomAD |
|
|
rs751252315 CA4813519 |
397 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA371739960 rs1468411403 |
406 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813523 rs370672430 |
410 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200147343 CA4813524 |
411 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4813525 rs200147343 |
411 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4813526 rs572127667 |
411 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478934244 CA371740020 |
415 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1003067324 CA181459049 |
416 | D>H | No |
ClinGen TOPMed |
|
|
rs1465824613 CA371740039 |
418 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 420 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371741284 rs1451559678 |
422 | C>F | No |
ClinGen gnomAD |
|
|
CA371741293 rs1250372680 |
424 | R>G | No |
ClinGen TOPMed |
|
|
CA371741295 rs1157753905 |
424 | R>K | No |
ClinGen gnomAD |
|
|
CA4813540 rs752091092 |
424 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA181466229 rs925995066 |
425 | S>A | No |
ClinGen Ensembl |
|
|
rs941287865 CA181466230 |
426 | V>I | No |
ClinGen TOPMed |
|
|
CA371741314 rs1464489641 |
427 | N>S | No |
ClinGen TOPMed |
|
|
CA371741340 COSM343151 rs1290920395 |
431 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA371741345 rs1211890475 |
431 | A>V | No |
ClinGen TOPMed |
|
|
rs1366246596 CA371741356 |
433 | E>G | No |
ClinGen gnomAD |
|
|
CA371741389 rs1264654638 |
436 | K>R | No |
ClinGen TOPMed |
|
|
CA4813541 rs148690736 RCV000971903 |
437 | G>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777215741 CA4813542 |
439 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs750921160 CA4813543 |
441 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371741631 rs1287311626 |
447 | C>Y | No |
ClinGen TOPMed |
|
|
CA4813559 rs199969551 |
449 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380315441 CA371741712 |
452 | D>E | No |
ClinGen TOPMed |
|
|
CA4813561 rs759391458 |
453 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813563 rs780868421 CA181466598 |
458 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA371741830 rs1563654884 |
460 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 461 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813564 rs142729309 |
462 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181466606 rs903212853 |
463 | E>A | No |
ClinGen TOPMed |
|
|
CA4813565 rs147362669 |
463 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA181466609 rs935981818 |
466 | I>N | No |
ClinGen TOPMed |
|
|
rs1386797072 CA371741967 |
469 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 470 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753390122 CA4813566 |
471 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371741999 rs1405778819 |
472 | E>A | No |
ClinGen TOPMed |
|
|
rs758865150 CA4813567 |
474 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA371742034 rs1352230479 |
474 | R>Q | No |
ClinGen gnomAD |
|
|
rs755370611 CA4813570 |
477 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs751860477 CA4813569 |
477 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA371742083 rs755370611 |
477 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 483 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181466638 rs894254314 |
483 | K>R | No |
ClinGen Ensembl |
|
|
rs1451100325 CA371742252 |
484 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371742273 rs1302629392 |
485 | S>Y | No |
ClinGen gnomAD |
|
|
CA4813572 rs748388689 |
488 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1293749251 CA371742367 |
490 | L>V | No |
ClinGen gnomAD |
|
|
CA4813573 rs756339285 |
491 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139452211 CA4813574 COSM3745708 |
492 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4813576 rs770935682 |
495 | V>L | No |
ClinGen ExAC |
|
|
rs903023384 CA181466671 |
498 | F>C | No |
ClinGen Ensembl |
|
|
CA4813577 rs144127105 |
499 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1236659729 CA371742638 |
501 | I>M | No |
ClinGen gnomAD |
|
|
CA371742630 rs1563655021 |
501 | I>T | No |
ClinGen Ensembl |
|
|
CA4813578 rs745859842 |
502 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746805607 CA4813598 |
503 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428092773 CA371743371 |
505 | A>G | No |
ClinGen TOPMed |
|
|
rs768236958 CA4813599 |
505 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1157371300 CA371743380 |
506 | S>N | No |
ClinGen gnomAD |
|
|
CA4813600 rs776267825 |
508 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747179610 CA4813601 |
509 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144381887 CA4813602 |
511 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148788097 CA4813604 |
513 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249058073 CA371743508 |
515 | Q>E | No |
ClinGen TOPMed |
|
|
CA4813605 rs142417052 |
515 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000133842 CA181467986 |
517 | I>M | No |
ClinGen Ensembl |
|
|
CA4813608 rs764622160 |
518 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754099718 CA4813609 |
520 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA181468005 rs201980093 |
522 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1287663649 CA371743608 |
523 | W>C | No |
ClinGen gnomAD |
|
|
CA4813610 rs151288845 |
524 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371743632 rs750504150 |
525 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479283629 CA371743639 |
525 | I>M | No |
ClinGen gnomAD |
|
|
rs750504150 CA4813612 |
525 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813613 rs758309204 |
535 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813614 rs779872707 |
537 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA371743803 rs779872707 COSM1700380 |
537 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746735840 CA4813615 |
538 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768433116 CA4813616 |
539 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781018623 CA4813617 COSM198850 |
539 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4813618 rs139630930 |
540 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs188166943 CA371743891 |
544 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA181468092 rs188166943 |
544 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4813621 rs762390118 |
545 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs775858813 CA4813623 |
546 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813622 rs150251689 |
546 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370047374 CA4813624 |
547 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1476970612 CA371744279 |
551 | P>L | No |
ClinGen gnomAD |
|
|
rs762284387 CA4813647 |
554 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765436614 CA4813648 |
555 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146554643 CA4813650 |
556 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181469896 rs146554643 |
556 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813651 rs146554643 |
556 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813652 rs751674562 |
557 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813653 rs754869242 |
558 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371744368 rs1485223812 |
562 | K>Q | No |
ClinGen gnomAD |
|
|
rs976763080 CA181469924 |
563 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755864294 CA4813656 |
564 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4813655 rs202069827 |
564 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756975372 CA4813660 |
574 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA181469955 rs923541203 |
574 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371744469 rs1279713040 |
576 | K>R | No |
ClinGen TOPMed |
|
|
rs1202711827 CA371744474 |
577 | G>R | No |
ClinGen TOPMed |
|
|
CA371744493 rs778527492 |
579 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983643050 CA181469981 |
581 | S>N | No |
ClinGen TOPMed |
|
|
rs745397371 CA4813662 |
584 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA371744838 rs1306222438 |
586 | F>S | No |
ClinGen gnomAD |
|
|
CA4813685 rs770370880 |
588 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370211723 CA4813684 |
588 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371744850 rs1239807779 |
588 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371744854 rs1219718486 |
589 | A>T | No |
ClinGen gnomAD |
|
|
CA371744861 rs1264918521 |
590 | K>E | No |
ClinGen gnomAD |
|
|
CA4813688 rs373626229 |
591 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373626229 CA4813687 |
591 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA181471947 rs921518744 |
592 | L>I | No |
ClinGen TOPMed |
|
|
CA371744903 rs774559705 |
596 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA4813689 rs774559705 |
596 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA371744946 rs1198862157 |
602 | E>D | No |
ClinGen TOPMed |
|
|
CA181471963 rs371608059 |
605 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760491662 CA4813693 |
605 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760491662 CA4813694 |
605 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371608059 CA4813692 |
605 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371744980 rs1586505175 COSM1458738 |
608 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA181472007 rs1022640458 |
610 | V>I | No |
ClinGen TOPMed |
|
|
rs371431625 CA4813696 |
615 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371745029 rs1457929190 |
615 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM454972 rs1457929190 CA371745028 |
615 | M>V | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1398656716 CA371745044 |
617 | L>F | No |
ClinGen gnomAD |
|
|
rs765194481 CA4813697 |
619 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs765194481 CA4813698 |
619 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 620 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813699 rs758169291 |
620 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1036723471 CA181472021 |
620 | I>V | No |
ClinGen TOPMed |
|
|
rs1376050766 CA371745066 |
621 | H>D | No |
ClinGen gnomAD |
|
|
CA181472042 rs574153775 |
622 | T>I | No |
ClinGen Ensembl |
|
|
CA371745080 rs1312228666 |
623 | H>D | No |
ClinGen gnomAD |
|
|
rs1322576102 CA371745084 |
623 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1393928260 CA371745087 |
624 | E>K | No |
ClinGen TOPMed |
|
|
rs1256236746 CA371745099 |
625 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751108315 CA4813701 |
630 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 630 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756527595 CA4813702 |
632 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778355261 CA4813703 |
633 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4813704 rs749549435 |
634 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371745168 rs1172336956 |
637 | D>N | No |
ClinGen TOPMed |
|
|
rs373633858 CA4813707 |
642 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772313834 CA4813708 COSM454973 |
643 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356821906 CA371745210 |
643 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1446209965 CA371745223 |
645 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1563659997 CA371745246 |
648 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 648 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371745260 rs1302649013 |
650 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 653 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750975216 CA4813719 |
653 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195172046 CA371745430 |
653 | I>V | No |
ClinGen gnomAD |
|
|
rs1363272902 CA371745439 |
654 | P>R | No |
ClinGen TOPMed |
|
|
CA4813721 rs754519223 |
655 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813720 rs754519223 |
655 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813722 rs149099542 |
656 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4813723 rs375337415 COSM1102678 |
656 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375337415 CA4813724 |
656 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426887859 CA371745449 |
657 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 657 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971739256 CA181473324 |
659 | I>T | No |
ClinGen gnomAD |
|
|
rs143136353 CA4813727 |
663 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143136353 CA181473327 |
663 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747263653 CA4813728 |
665 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs367896555 CA181473330 |
666 | F>C | No |
ClinGen ESP TOPMed |
|
|
rs1212796724 CA371745524 |
668 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 672 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371745568 rs1283375681 |
673 | N>S | No |
ClinGen gnomAD |
|
|
CA4813729 rs768771479 |
675 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813732 rs371784399 |
678 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224766841 CA371745617 |
681 | P>T | No |
ClinGen TOPMed |
|
|
CA4813735 rs765879495 |
687 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4813736 rs774048127 |
688 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813737 rs774048127 |
688 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA181473352 rs796569556 |
689 | P>Q | No |
ClinGen Ensembl |
|
|
rs1388068810 CA371745673 |
689 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 692 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813739 rs752235126 |
692 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1197361377 CA371747067 |
695 | Q>R | No |
ClinGen gnomAD |
|
|
CA371747090 rs1438715356 |
699 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371747093 rs1184455850 |
699 | A>V | No |
ClinGen gnomAD |
|
|
rs766731057 CA4813762 |
700 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751896581 CA4813763 |
700 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4813765 rs200057575 |
701 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4813766 rs752756565 |
702 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs773853044 CA181476111 |
703 | E>G | No |
ClinGen Ensembl |
|
|
rs1315082220 CA371747177 |
704 | L>P | No |
ClinGen TOPMed |
|
|
CA4813767 rs142899993 |
705 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778057148 CA4813768 |
707 | P>L | No |
ClinGen ExAC |
|
|
rs749216318 CA4813769 |
710 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1380083860 CA371747226 |
711 | R>K | No |
ClinGen TOPMed |
|
|
rs1446911435 CA371747232 |
712 | R>Q | No |
ClinGen gnomAD |
|
|
CA4813771 rs778721247 |
712 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866000554 CA181476151 |
714 | A>T | No |
ClinGen Ensembl |
|
|
rs146951744 CA371747246 |
715 | K>E | No |
ClinGen ESP gnomAD |
|
|
rs146951744 CA181476155 |
715 | K>Q | No |
ClinGen ESP gnomAD |
|
|
rs771691156 CA4813773 |
715 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371747254 rs1291175293 |
716 | D>A | No |
ClinGen TOPMed |
|
|
CA4813774 rs750419126 |
716 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760381737 CA4813775 |
717 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371747260 rs760381737 |
717 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4813776 rs199981321 |
721 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188977425 CA371747292 |
722 | V>I | No |
ClinGen gnomAD |
|
|
CA371747299 rs1426860598 |
723 | Q>E | No |
ClinGen TOPMed |
|
|
rs548876480 CA181476170 |
727 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs548876480 CA181476169 |
727 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA181476173 rs763268565 |
728 | S>F | No |
ClinGen Ensembl |
|
|
CA4813778 rs184351630 |
731 | H>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs1372371977 CA371747370 |
733 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371747384 rs1169416449 |
735 | N>S | No |
ClinGen gnomAD |
|
|
CA371747388 rs1399860772 |
736 | D>N | No |
ClinGen gnomAD |
|
|
CA371747393 rs1563666758 |
736 | D>V | No |
ClinGen Ensembl |
|
|
CA181476198 rs961796394 |
737 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1291923250 CA371747406 |
738 | R>S | No |
ClinGen TOPMed |
|
|
rs751889790 CA4813780 |
740 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA371747428 rs1376923311 |
742 | I>L | No |
ClinGen gnomAD |
|
|
CA371747454 rs1356902375 |
745 | R>K | No |
ClinGen TOPMed |
|
|
rs752952923 CA4813783 |
751 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371747525 rs1230326724 |
753 | Y>H | No |
ClinGen gnomAD |
|
|
CA371747551 rs1393118318 |
754 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371747547 COSM1102681 rs1393118318 |
754 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA181476200 COSM606772 rs372594000 |
754 | R>W | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs150502842 CA4813798 |
755 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4813797 RCV000964419 rs150502842 |
755 | S>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767971534 CA4813799 |
755 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs200114204 CA181476368 |
762 | K>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs200114204 CA371747713 |
762 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA181476370 rs964460443 |
763 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA371747727 rs1450194937 |
764 | L>* | No |
ClinGen TOPMed |
|
|
rs776037328 CA371747723 |
764 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339580444 CA371747731 |
765 | R>* | No |
ClinGen TOPMed |
|
|
rs1208161566 CA371747734 |
765 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370083616 CA4813838 |
766 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755830705 CA371730799 |
768 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813839 rs755830705 |
768 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371730801 rs1295992350 |
769 | V>I | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1240080447 CA371730830 |
772 | I>L | No |
ClinGen TOPMed |
|
|
rs748821390 CA371730876 |
776 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748821390 CA4813841 |
776 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA371730922 rs1212404669 |
780 | L>I | No |
ClinGen gnomAD |
|
|
CA4813844 rs747578829 |
781 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769122208 CA4813845 |
782 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4813846 rs139992804 |
783 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761905413 CA4813847 |
783 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139992804 CA371730955 |
783 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149420496 CA4813849 |
784 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4813848 COSM1254885 rs532498490 |
784 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA4813860 rs753612696 |
785 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA371731007 rs1157041028 |
786 | D>N | No |
ClinGen gnomAD |
|
|
CA4813862 rs778617408 |
787 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs373930884 CA4813864 |
788 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371731035 rs1417938402 |
789 | N>S | No |
ClinGen gnomAD |
|
|
CA181420422 rs958084602 |
790 | D>G | No |
ClinGen TOPMed |
|
|
CA4813866 rs748564249 |
792 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA371731057 rs1438702761 |
792 | T>I | No |
ClinGen gnomAD |
|
|
CA371731061 rs1205780247 |
793 | A>D | No |
ClinGen TOPMed |
|
|
rs1324951503 CA371731065 |
794 | E>Q | No |
ClinGen gnomAD |
|
|
CA371731069 rs1355858828 |
794 | E>V | No |
ClinGen TOPMed |
|
|
CA4813867 rs144808854 |
795 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144808854 CA4813868 |
795 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371731072 rs144808854 |
795 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4813870 rs139668707 |
796 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759429559 CA4813872 |
798 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774455957 CA4813871 |
798 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371731092 rs1349516614 |
798 | I>V | No |
ClinGen gnomAD |
|
|
CA371731121 rs1563667989 |
802 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 806 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4813891 rs745974192 |
807 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA181425213 rs1033714490 |
808 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 808 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474890935 CA371732143 |
810 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 811 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265084309 CA371732237 |
815 | A>T | No |
ClinGen TOPMed |
|
|
rs144329224 CA4813892 |
816 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4813894 rs760577357 |
817 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760577357 CA4813895 |
817 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1553364 CA371732337 rs1410151071 |
820 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1330416336 CA371732356 |
821 | L>V | No |
ClinGen gnomAD |
|
|
CA371732381 rs761505491 |
823 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4813897 rs761505491 |
823 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4813898 rs764991956 |
823 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749882203 CA4813899 |
825 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1586528811 CA371732432 |
826 | L>V | No |
ClinGen Ensembl |
|
|
rs1210671115 CA371732458 |
827 | S>I | No |
ClinGen gnomAD |
|
|
rs1334142738 CA371732483 |
828 | I>M | No |
ClinGen TOPMed |
|
|
rs140060323 CA4813900 |
828 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371732493 rs1468793595 |
829 | N>T | No |
ClinGen TOPMed |
|
|
CA4813901 rs765867230 |
831 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA371732519 rs1269951439 |
831 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1160894587 CA371732548 |
833 | H>R | No |
ClinGen TOPMed |
|
|
rs753228053 CA4813902 |
834 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 835 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868248955 CA181425269 |
836 | L>S | No |
ClinGen Ensembl |
|
|
rs756621480 CA4813903 |
838 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778072404 CA4813904 |
839 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4813906 rs749677207 |
842 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4813905 rs749677207 |
842 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779102429 CA4813907 |
843 | Y>N | No |
ClinGen ExAC TOPMed |
|
|
rs1586528910 CA918319013 |
844 | F>* | No |
ClinGen Ensembl |
|
|
CA4813926 rs766957901 |
846 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371732809 rs1190257569 |
847 | N>S | No |
ClinGen gnomAD |
|
|
rs201221326 CA181426345 |
848 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs145046104 CA4813930 |
849 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4813931 rs758578399 |
854 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs564070999 CA4813933 |
861 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1157484859 CA371732982 |
861 | A>V | No |
ClinGen gnomAD |
|
|
rs768643864 CA4813934 |
862 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs151237407 CA371732998 |
863 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA181426366 rs151237407 |
863 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1442137902 CA371733093 |
870 | A>V | No |
ClinGen gnomAD |
|
|
rs922690273 CA181426371 |
871 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM198852 rs922690273 CA371733098 |
871 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 872 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748159116 CA4813936 |
873 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376781761 CA181426395 |
874 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371733121 rs1385323217 |
874 | D>G | No |
ClinGen TOPMed |
|
|
CA4813938 rs530195857 |
875 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4813939 rs762628439 |
877 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371733179 rs1467830836 |
878 | D>E | No |
ClinGen gnomAD |
|
|
CA371733180 rs1194037996 |
879 | Q>K | No |
ClinGen gnomAD |
|
|
CA371733185 rs1442432887 |
879 | Q>R | No |
ClinGen TOPMed |
|
|
rs755100105 CA4813951 |
883 | R>* | Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1417769707 CA371733284 COSM1102687 |
883 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs200481388 CA4813953 |
886 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769885978 CA181427134 |
889 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs769885978 CA4813954 |
889 | S>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1265948119 CA371733355 |
890 | L>S | No |
ClinGen TOPMed |
|
|
CA4813955 rs777577501 |
892 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA181427164 rs113906619 |
895 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 896 | Q>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755294562 CA4813970 |
901 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1381376743 CA371734364 |
905 | R>G | No |
ClinGen gnomAD |
|
|
rs1298140272 CA371734410 |
907 | I>T | No |
ClinGen gnomAD |
|
|
CA181428322 rs757369899 |
907 | I>V | No |
ClinGen Ensembl |
|
|
CA4813973 rs752848840 |
912 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4813976 rs749315203 |
919 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367868488 CA371734702 |
923 | D>N | No |
ClinGen gnomAD |
|
|
rs1220444772 CA371734752 |
925 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371734754 rs1212506763 |
925 | M>T | No |
ClinGen gnomAD |
|
|
rs1220444772 CA371734751 |
925 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA181428406 rs754778741 |
926 | D>E | No |
ClinGen Ensembl |
|
|
CA4813991 rs756143349 |
929 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1378308800 CA371734825 |
929 | Y>D | No |
ClinGen TOPMed |
|
|
COSM1102690 CA4813993 rs202144148 |
930 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4813994 rs202144148 |
930 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34652391 CA181428428 |
931 | Y>C | No |
ClinGen Ensembl |
|
|
rs1270613195 CA371734864 |
932 | I>V | No |
ClinGen gnomAD |
|
|
CA371734906 rs1467382519 |
935 | V>I | No |
ClinGen gnomAD |
|
|
rs778628184 CA4813995 |
936 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA181428440 rs113018187 |
941 | L>M | No |
ClinGen Ensembl |
|
|
rs1414080294 CA371735099 |
944 | L>R | No |
ClinGen gnomAD |
|
|
CA371735123 rs1391360928 |
946 | H>Y | No |
ClinGen TOPMed |
|
|
CA4814014 rs765160422 |
947 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1163922273 CA371735204 |
951 | T>I | No |
ClinGen gnomAD |
|
|
CA371735242 rs1414312258 |
953 | K>N | No |
ClinGen gnomAD |
|
|
COSM1736771 rs867085893 CA181428596 |
955 | Q>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1406911300 CA371735289 |
956 | I>T | No |
ClinGen gnomAD |
|
|
rs1326392279 CA371735294 |
957 | A>T | No |
ClinGen gnomAD |
|
|
CA371736059 rs1169904270 |
959 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 962 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371736086 rs1417004170 |
962 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA181431478 rs879870829 |
963 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776027359 CA4814029 |
969 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA181431486 rs964466151 |
971 | P>S | No |
ClinGen Ensembl |
|
|
rs768934904 CA4814031 |
976 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1347185793 CA371736259 |
977 | L>V | No |
ClinGen gnomAD |
|
|
rs141319499 CA4814033 |
979 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203015761 CA371736352 |
983 | K>E | No |
ClinGen gnomAD |
|
|
CA181431514 rs915237699 |
985 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4814035 rs750335380 |
985 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371736387 rs915237699 |
985 | K>R | No |
ClinGen TOPMed gnomAD |
|
| rs1352150703 | 985 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371736385 rs915237699 |
985 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1392891291 CA371736489 |
992 | K>Q | No |
ClinGen gnomAD |
|
|
rs754532327 CA4814039 |
995 | F>L | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q75QN2
[MIM: 618572]: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS)
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia. {ECO:0000269|PubMed:28542170}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia. {ECO:0000269|PubMed:28542170}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q75QN2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q75QN2 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAEAADREA | ATSSRPCTPP | QTCWFEFLLE | ESLLEKHLRK | PCPDPAPVQL | IVQFLEQASK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSVNEQNQVQ | PPPDNKRNRI | LKLLALKVAA | HLKWDLDILE | KSLSVPVLNM | LLNELLCISK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPPGTKHVDM | DLATLPPTTA | MAVLLYNRWA | IRTIVQSSFP | VKQAKPGPPQ | LSVMNQMQQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KELTENILKV | LKEQAADSIL | VLEAALKLNK | DLYVHTMRTL | DLLAMEPGMV | NGETESSTAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKVKTEEMQC | QVCYDLGAAY | FQQGSTNSAV | YENAREKFFR | TKELIAEIGS | LSLHCTIDEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLAGYCQACD | VLVPSSDSTS | QQLTPYSQVH | ICLRSGNYQE | VIQIFIEDNL | TLSLPVQFRQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVLRELFKKA | QQGNEALDEI | CFKVCACNTV | RDILEGRTIS | VQFNQLFLRP | NKEKIDFLLE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VCSRSVNLEK | ASESLKGNMA | AFLKNVCLGL | EDLQYVFMIS | SHELFITLLK | DEERKLLVDQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MRKRSPRVNL | CIKPVTSFYD | IPASASVNIG | QLEHQLILSV | DPWRIRQILI | ELHGMTSERQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FWTVSNKWEV | PSVYSGVILG | IKDNLTRDLV | YILMAKGLHC | STVKDFSHAK | QLFAACLELV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TEFSPKLRQV | MLNEMLLLDI | HTHEAGTGQA | GERPPSDLIS | RVRGYLEMRL | PDIPLRQVIA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EECVAFMLNW | RENEYLTLQV | PAFLLQSNPY | VKLGQLLAAT | CKELPGPKES | RRTAKDLWEV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VVQICSVSSQ | HKRGNDGRVS | LIKQRESTLG | IMYRSELLSF | IKKLREPLVL | TIILSLFVKL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HNVREDIVND | ITAEHISIWP | SSIPNLQSVD | FEAVAITVKE | LVRYTLSINP | NNHSWLIIQA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DIYFATNQYS | AALHYYLQAG | AVCSDFFNKA | VPPDVYTDQV | IKRMIKCCSL | LNCHTQVAIL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| CQFLREIDYK | TAFKSLQEQN | SHDAMDSYYD | YIWDVTILEY | LTYLHHKRGE | TDKRQIAIKA |
| 970 | 980 | 990 | |||
| IGQTELNASN | PEEVLQLAAQ | RRKKKFLQAM | AKLYF |