Q15111
PR
Gene name |
PLCL1 |
Protein name |
Inactive phospholipase C-like protein 1 |
Names |
PLC-L1, Phospholipase C-deleted in lung carcinoma, Phospholipase C-related but catalytically inactive protein, PRIP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5334 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q15111
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15111-F1 | Predicted | AlphaFoldDB |
809 variants for Q15111
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1007985434 CA63588087 |
3 | E>D | No |
ClinGen TOPMed |
|
|
CA63588094 rs917732813 |
5 | A>T | No |
ClinGen Ensembl |
|
|
rs1157981086 CA350383555 |
6 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1157981086 CA350383556 |
6 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA350383560 rs1377830268 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA350383561 rs766108352 |
7 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045175 rs766108352 |
7 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350383570 rs1479720659 |
8 | R>M | No |
ClinGen TOPMed |
|
|
rs1250828309 CA350383582 |
10 | D>H | No |
ClinGen TOPMed |
|
|
rs1414733859 CA350383593 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350383598 rs1408322215 |
12 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1352718960 CA350383595 |
12 | A>T | No |
ClinGen gnomAD |
|
|
rs1408322215 CA350383600 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1312989072 CA350383604 |
13 | P>L | No |
ClinGen gnomAD |
|
|
CA350383603 rs1574887818 |
13 | P>S | No |
ClinGen Ensembl |
|
|
CA63588144 rs902235135 |
14 | P>L | No |
ClinGen TOPMed |
|
|
rs966059157 CA63588132 |
14 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1253813224 CA350383618 |
15 | D>E | No |
ClinGen gnomAD |
|
|
CA350383611 rs1205795461 |
15 | D>N | No |
ClinGen gnomAD |
|
|
rs1481984251 CA350383622 |
16 | A>E | No |
ClinGen gnomAD |
|
|
CA350383620 rs1369379605 |
16 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1369379605 CA350383619 |
16 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350383625 rs1267664086 |
17 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA63588187 rs952182576 |
17 | A>V | No |
ClinGen TOPMed |
|
|
CA350383638 rs1173456947 |
19 | G>C | No |
ClinGen gnomAD |
|
|
CA63588190 rs996381016 |
20 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2045177 rs556626094 |
21 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2045179 rs752692464 |
22 | D>E | No |
ClinGen ExAC |
|
|
CA2045178 rs764872250 |
22 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005028494 CA350383671 |
24 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350383670 rs1005028494 |
24 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA63588213 rs1005028494 |
24 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350383698 rs1236445373 |
29 | A>T | No |
ClinGen TOPMed |
|
|
CA63588215 rs963425319 |
30 | A>S | No |
ClinGen Ensembl |
|
|
rs1334736385 CA350383708 |
30 | A>V | No |
ClinGen TOPMed |
|
|
rs192178250 CA2045180 |
34 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350383737 rs1442400123 |
35 | T>A | No |
ClinGen TOPMed |
|
|
rs1391618677 CA350383740 |
35 | T>R | No |
ClinGen TOPMed |
|
|
rs958726865 CA63588225 |
36 | A>V | No |
ClinGen Ensembl |
|
|
CA350383748 rs1401211309 |
37 | A>T | No |
ClinGen TOPMed |
|
|
CA350383756 rs1386943918 |
38 | S>F | No |
ClinGen TOPMed |
|
|
rs1299386153 CA350383797 |
44 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1363403236 CA350383805 |
45 | R>H | No |
ClinGen TOPMed |
|
|
CA350383823 rs947752339 |
48 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA63588237 rs947752339 |
48 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1194363387 CA350383821 |
48 | G>R | No |
ClinGen TOPMed |
|
|
CA63588256 rs917862563 |
50 | A>S | No |
ClinGen Ensembl |
|
|
rs1448021182 CA350383879 |
58 | P>T | No |
ClinGen TOPMed |
|
|
CA63588293 rs949343585 |
59 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350383895 rs1349533028 |
60 | D>E | No |
ClinGen TOPMed |
|
|
rs1244671655 CA350383925 |
65 | L>F | No |
ClinGen Ensembl |
|
|
CA350383933 rs1368232890 |
66 | L>P | No |
ClinGen TOPMed |
|
|
rs1204241985 CA350383957 |
70 | R>Q | No |
ClinGen gnomAD |
|
|
CA63588308 rs903518697 |
72 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1574888013 CA350383989 |
76 | S>G | No |
ClinGen Ensembl |
|
|
CA350383999 rs1273172601 |
77 | S>I | No |
ClinGen TOPMed |
|
|
rs1273172601 CA350384000 |
77 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 79 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63588324 rs1052350934 |
80 | K>R | No |
ClinGen TOPMed |
|
|
rs1171408740 CA350216533 |
81 | D>G | No |
ClinGen TOPMed |
|
|
CA2045199 rs765136732 |
82 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350216574 COSM572699 rs1309896379 |
87 | C>Y | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1430451609 CA350216585 |
89 | G>R | No |
ClinGen TOPMed |
|
|
rs374804162 CA2045201 |
99 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350216666 rs1483617500 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA350216675 COSM3576092 rs1249939618 |
101 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA350216688 rs1198650784 |
103 | K>R | No |
ClinGen TOPMed |
|
|
CA350216696 rs1482813745 |
104 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 108 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63757468 rs1009312841 |
109 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761189932 CA2045207 |
112 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045208 rs756290088 |
123 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 123 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356808017 CA350216841 |
124 | V>I | No |
ClinGen TOPMed |
|
|
rs1334903017 COSM1591697 CA350216848 |
125 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2045210 rs780511339 |
129 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2045209 rs780511339 |
129 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs141588918 CA2045211 |
129 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350216876 rs1394738142 |
130 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900584070 CA63757522 |
133 | R>C | No |
ClinGen TOPMed |
|
|
rs971010893 CA63757545 |
136 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA63757541 rs994906581 |
136 | T>S | No |
ClinGen TOPMed |
|
|
rs748596724 CA2045213 |
138 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA63757564 rs770577631 |
139 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2045214 rs770577631 |
139 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs147528074 CA2045215 |
142 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045216 rs753354992 COSM1482603 |
145 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764761564 CA2045217 |
145 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764761564 CA350216974 |
145 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753354992 CA63757573 |
145 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373238685 CA63757588 |
147 | E>D | No |
ClinGen Ensembl |
|
|
rs1420042557 CA350216991 |
148 | P>T | No |
ClinGen TOPMed |
|
|
rs775400640 CA2045218 COSM3798480 |
149 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350217024 rs1390768046 |
152 | D>E | No |
ClinGen gnomAD |
|
|
rs542199767 CA2045219 |
154 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763834112 CA2045220 |
157 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2045222 rs778613184 |
159 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145057158 CA2045221 |
159 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113446835 CA63757607 |
162 | A>T | No |
ClinGen Ensembl |
|
|
rs767706149 CA2045223 |
163 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297667404 CA350217111 |
165 | E>D | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 169 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350217132 rs1366679803 |
169 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780162305 CA2045226 |
171 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs960695648 CA350217155 |
172 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs960695648 CA63757627 |
172 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754075037 CA2045227 |
174 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA350217176 rs1243288382 |
175 | F>L | No |
ClinGen TOPMed |
|
|
CA2045228 rs755400665 |
175 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350217179 rs1213252375 |
176 | R>K | No |
ClinGen gnomAD |
|
|
CA2045229 rs779361329 |
179 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2045231 rs772701932 |
182 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2045233 rs368215936 |
183 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473039932 CA350217234 |
184 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2045234 rs371691357 |
186 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161486103 CA350217262 |
188 | C>R | No |
ClinGen TOPMed |
|
|
CA2045236 rs762524303 |
189 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463860685 CA350217287 |
191 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs556879668 CA350217288 |
192 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556879668 CA2045238 |
192 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767338768 CA2045240 |
194 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045242 COSM1153682 rs758051399 |
195 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766416473 CA2045243 |
197 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs754124133 CA2045245 |
197 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA63757744 rs779884429 |
198 | Y>C | No |
ClinGen Ensembl |
|
|
rs779485317 CA2045246 |
199 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2045247 rs753079745 |
199 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA63757753 rs149682289 |
206 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA350217387 rs1189472834 |
207 | S>L | No |
ClinGen gnomAD |
|
|
rs1158019795 CA350217391 |
208 | A>G | No |
ClinGen gnomAD |
|
|
rs778162357 CA2045249 |
208 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145576150 CA2045250 |
210 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242878808 CA350217411 |
211 | A>V | No |
ClinGen TOPMed |
|
|
CA350217421 rs1386161051 |
213 | I>L | No |
ClinGen gnomAD |
|
|
rs150675435 CA2045251 |
214 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2045253 rs749010469 |
216 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs774185771 CA2045255 |
217 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2045258 rs771861039 |
219 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760605252 CA2045259 COSM1404335 |
219 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2045257 rs771861039 |
219 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1414535743 CA350217461 |
220 | Y>H | No |
ClinGen gnomAD |
|
|
rs61752177 COSM1591693 CA63757839 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs558782692 CA2045261 |
225 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350217509 rs1345758724 |
227 | Q>L | No |
ClinGen gnomAD |
|
|
rs759874023 CA2045262 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs369182692 CA63757858 |
230 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765530130 CA2045263 |
230 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752918197 CA2045264 |
232 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758719699 COSM1404337 CA2045265 |
235 | N>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs886234818 CA63757889 |
239 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1180602625 CA350217595 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA350217594 rs1559097881 |
240 | R>W | No |
ClinGen Ensembl |
|
|
rs1467081898 CA350217603 |
241 | F>L | No |
ClinGen gnomAD |
|
|
rs1005120936 CA63757892 |
241 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2045266 rs764451023 |
242 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA63757899 rs1002940941 |
243 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 244 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045267 rs371442939 |
245 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045270 rs779580685 |
247 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350217679 rs1352085192 |
252 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 255 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045272 rs754435523 |
258 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1559097943 CA350217753 |
262 | D>E | No |
ClinGen Ensembl |
|
|
CA2045273 rs778571133 |
263 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2045276 rs773044815 |
265 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350217815 rs1574298955 |
272 | N>D | No |
ClinGen Ensembl |
|
|
rs1021756408 CA63757937 |
273 | P>S | No |
ClinGen Ensembl |
|
|
CA2045279 rs146525330 |
274 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146525330 CA350217827 |
274 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63757952 rs866121231 |
275 | L>V | No |
ClinGen Ensembl |
|
|
rs61752178 COSM1404339 CA2045280 |
278 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs965430208 CA63757968 |
281 | R>G | No |
ClinGen Ensembl |
|
|
rs540085766 CA63757972 |
281 | R>K | No |
ClinGen Ensembl |
|
|
CA350217891 rs1273353143 |
283 | K>N | No |
ClinGen TOPMed |
|
|
CA63757977 rs541154628 |
288 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA350217934 rs1356645280 |
289 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350217979 rs1297877967 |
295 | T>I | No |
ClinGen gnomAD |
|
|
rs1470961961 CA350217986 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA2045282 rs775857733 |
297 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140990771 CA2045283 |
297 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1370287831 CA350217993 |
298 | V>L | No |
ClinGen gnomAD |
|
|
CA350217991 rs1370287831 |
298 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750894486 CA2045288 COSM1591691 |
300 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 301 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754492605 CA2045289 |
301 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs778339950 CA2045290 |
303 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA2045292 rs758062069 |
304 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA350218051 rs758062069 |
304 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2045293 rs150212353 |
306 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045294 rs150212353 |
306 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175491843 CA350218138 |
309 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2045295 rs770796513 |
310 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1377339177 CA350218175 |
311 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350218226 rs1475515604 |
314 | P>R | No |
ClinGen TOPMed |
|
|
rs770006380 CA2045298 |
316 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745732112 CA2045297 |
316 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383385238 CA350218283 |
318 | F>L | No |
ClinGen Ensembl |
|
|
rs574472301 CA2045301 |
318 | F>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA350218314 rs1463241290 |
320 | L>I | No |
ClinGen gnomAD |
|
|
rs565066776 CA63758064 |
321 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2045302 rs565066776 |
321 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350218333 rs1435894123 |
322 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs750870331 CA2045303 |
323 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359738655 CA350218346 |
324 | S>F | No |
ClinGen gnomAD |
|
|
rs1359738655 CA350218344 |
324 | S>Y | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA63758070 COSM1591690 rs756609742 |
326 | N>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1559098137 CA350218367 |
327 | K>I | No |
ClinGen Ensembl |
|
|
CA350218368 rs1307500692 |
327 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 328 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 329 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045304 rs375846315 |
329 | Y>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201389033 CA2045305 |
332 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs984664949 CA63758079 |
333 | N>S | No |
ClinGen Ensembl |
|
|
rs1272083348 CA350218416 |
334 | D>G | No |
ClinGen gnomAD |
|
|
rs1210050001 CA350218432 |
336 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA350218426 rs1329308974 |
336 | M>L | No |
ClinGen gnomAD |
|
|
rs1244383035 CA350218435 |
337 | L>I | No |
ClinGen gnomAD |
|
|
rs1244383035 CA350218436 |
337 | L>V | No |
ClinGen gnomAD |
|
|
rs1485192457 CA350218450 |
339 | L>V | No |
ClinGen gnomAD |
|
|
rs373797233 CA2045306 COSM1133614 |
346 | T>I | ovary Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2045307 rs761160580 |
347 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340257577 CA350218508 |
347 | H>R | No |
ClinGen TOPMed |
|
|
rs1216953195 CA350218518 |
349 | T>A | No |
ClinGen TOPMed |
|
|
rs1280461125 CA350218523 |
350 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758032665 CA2045310 |
350 | E>V | No |
ClinGen ExAC |
|
|
rs1450051784 CA350218530 |
351 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA63758094 rs1044196095 |
351 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1344804125 CA350218543 |
352 | I>M | No |
ClinGen gnomAD |
|
|
rs1457875885 CA350218545 |
353 | C>R | No |
ClinGen gnomAD |
|
|
rs777499794 CA2045311 |
357 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350218591 rs1429970146 |
359 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA350218606 rs1574299359 |
361 | E>G | No |
ClinGen Ensembl |
|
|
COSM1591689 rs1357149217 CA350218602 |
361 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2045315 rs745856663 |
365 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA63758110 rs938401540 |
365 | E>V | No |
ClinGen Ensembl |
|
|
rs1225065008 CA350218636 |
366 | G>R | No |
ClinGen gnomAD |
|
|
CA2045316 rs368374568 |
367 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780048494 CA2045317 |
367 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs113185553 CA2045318 |
368 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs563210715 CA2045320 |
370 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350218663 rs1186222557 |
370 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2045321 rs532197317 |
371 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2045322 rs543894015 |
373 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761207761 CA2045324 |
376 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400131021 CA350218717 |
378 | T>I | No |
ClinGen gnomAD |
|
|
CA350218723 rs1312076415 |
379 | Q>H | No |
ClinGen gnomAD |
|
|
CA2045326 rs766846507 |
379 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358070341 CA350218730 |
380 | Y>F | No |
ClinGen Ensembl |
|
| TCGA novel | 383 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350218758 rs1182125285 |
384 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1443931440 CA350218770 |
386 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 390 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045328 rs762552406 |
390 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs552303476 CA2045329 |
391 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751237081 CA2045330 |
391 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 392 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045331 rs369494233 |
393 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781197637 CA2045332 |
393 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350218817 rs369494233 |
393 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045334 rs370625574 |
394 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750223588 CA2045333 |
394 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA63758194 rs770968797 |
395 | K>N | No |
ClinGen Ensembl |
|
|
CA2045335 rs780072812 |
396 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350218836 rs780072812 |
396 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350218843 rs1574299528 |
397 | A>P | No |
ClinGen Ensembl |
|
|
TCGA novel rs1206901280 CA350218854 |
398 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
| TCGA novel | 398 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749114138 CA2045336 |
399 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778849357 CA2045339 CA2045338 |
400 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA350218864 rs1191811999 |
400 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350218863 rs1191811999 |
400 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350218873 rs1172865259 |
401 | T>I | No |
ClinGen gnomAD |
|
|
rs1172865259 CA350218871 |
401 | T>N | No |
ClinGen gnomAD |
|
|
CA2045340 rs772254265 |
401 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1411436937 CA350218884 |
403 | P>T | No |
ClinGen gnomAD |
|
|
rs1166223869 CA350218913 |
407 | Y>C | No |
ClinGen TOPMed |
|
|
rs1559098406 CA350218921 |
408 | Y>C | No |
ClinGen Ensembl |
|
|
rs777198566 CA2045344 |
410 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350218934 rs1436639395 |
410 | N>Y | No |
ClinGen gnomAD |
|
|
rs1368093153 CA350218939 |
411 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs374856574 CA2045345 |
412 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 413 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773992669 CA2045347 |
416 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761609539 CA2045348 |
418 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767301034 CA2045349 |
419 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2045350 rs750057885 |
419 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA350218998 rs1214511658 |
420 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA350219005 rs1254969634 |
421 | Q>E | No |
ClinGen gnomAD |
|
|
CA350219022 rs1192996031 |
423 | R>K | No |
ClinGen gnomAD |
|
|
rs755977603 CA2045351 |
423 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223919682 CA350219030 |
424 | G>A | No |
ClinGen TOPMed |
|
|
CA350219038 rs1165921556 |
426 | A>T | No |
ClinGen gnomAD |
|
|
CA350219052 rs1405623568 |
428 | I>L | No |
ClinGen gnomAD |
|
|
rs1355588357 CA350219057 |
428 | I>M | No |
ClinGen TOPMed |
|
|
CA2045353 rs559193852 |
428 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1405623568 CA350219054 |
428 | I>V | No |
ClinGen gnomAD |
|
|
rs1306758129 CA350219062 |
429 | N>S | No |
ClinGen TOPMed |
|
|
CA63758308 rs779093091 |
433 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2045356 rs748201205 |
433 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2045355 rs779093091 |
433 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045358 rs376872615 |
440 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1482605 rs1559098498 CA350219138 |
440 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs201197388 CA2045359 COSM1530064 |
442 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201197388 CA2045360 |
442 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275271693 CA350219168 |
445 | D>A | No |
ClinGen gnomAD |
|
|
VAR_038993 rs45506698 CA63758334 |
445 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA350219166 rs1275271693 |
445 | D>V | No |
ClinGen gnomAD |
|
|
rs45506698 CA2045361 |
445 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA63758353 rs896337840 |
446 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA63758344 rs913684920 |
446 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA350219184 rs1448689170 |
448 | D>H | No |
ClinGen gnomAD |
|
|
CA350219191 rs1241307529 |
449 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2045362 rs746452778 |
451 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166713261 CA350219223 |
453 | E>V | No |
ClinGen gnomAD |
|
|
CA63758368 rs45506696 VAR_038994 |
454 | P>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA350219237 rs770168031 |
455 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA350219249 rs1159231413 |
457 | C>F | No |
ClinGen gnomAD |
|
|
CA350219257 rs1268403097 |
458 | N>S | No |
ClinGen TOPMed |
|
|
CA350219261 rs1439253243 |
459 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761442493 CA2045365 |
461 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs145704485 CA2045366 |
462 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 463 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487553391 CA350219307 |
463 | T>S | No |
ClinGen TOPMed |
|
|
CA350219337 rs1326272602 |
465 | H>R | No |
ClinGen gnomAD |
|
|
rs542624108 CA2045367 |
465 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1246132893 CA350219352 |
466 | V>A | No |
ClinGen TOPMed |
|
|
rs760234281 CA2045368 |
466 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766267203 CA2045369 |
467 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754994541 CA2045371 |
468 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765105645 CA350219394 |
469 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752588522 CA2045373 COSM1220980 |
469 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758473887 CA2045374 |
471 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045376 rs751837758 |
472 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2045375 rs777772514 |
472 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288896788 CA350219464 |
474 | V>E | No |
ClinGen TOPMed |
|
|
rs1189761479 COSM1591686 CA350219458 |
474 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs547954345 CA2045379 |
475 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182032525 CA350219492 |
476 | N>S | No |
ClinGen gnomAD |
|
|
rs1296885159 CA350219500 |
477 | K>E | No |
ClinGen TOPMed |
|
|
rs201977873 CA2045380 |
477 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350219505 rs201977873 |
477 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178508162 CA350219520 |
478 | F>S | No |
ClinGen TOPMed |
|
|
CA2045382 rs780710675 |
482 | A>S | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350219570 rs780710675 |
482 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA63758464 rs1052834042 |
484 | E>A | No |
ClinGen Ensembl |
|
|
CA2045384 rs771769559 |
489 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772849136 CA2045385 |
492 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772849136 CA350219694 |
492 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2045387 rs770470677 |
496 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA350219748 rs770470677 |
496 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1236965488 CA350219771 |
498 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2045388 rs139080754 |
498 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 500 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431614555 CA350219806 |
501 | K>R | No |
ClinGen TOPMed |
|
|
rs764940656 CA2045390 |
503 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1348475326 CA350219829 |
503 | M>V | No |
ClinGen gnomAD |
|
|
CA2045391 rs369030223 |
504 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045392 rs550517091 |
505 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350219895 rs1252225908 |
507 | M>T | No |
ClinGen gnomAD |
|
|
CA2045394 rs751560291 |
508 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2045395 rs200820595 |
510 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781302554 CA2045396 |
513 | N>S | No |
ClinGen ExAC |
|
|
rs1395113721 CA350219989 |
515 | L>F | No |
ClinGen gnomAD |
|
|
CA2045397 rs750593306 |
516 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1466861961 CA350220002 |
517 | T>A | No |
ClinGen gnomAD |
|
|
CA2045398 rs538867122 |
517 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1176008229 CA350220017 |
519 | A>E | No |
ClinGen gnomAD |
|
|
CA350220018 rs1176008229 |
519 | A>V | No |
ClinGen gnomAD |
|
|
CA350220022 rs1574300113 |
520 | P>H | No |
ClinGen Ensembl |
|
|
CA63758544 rs986587351 |
520 | P>S | No |
ClinGen TOPMed |
|
|
rs1195198188 CA350220031 |
521 | L>F | No |
ClinGen gnomAD |
|
|
rs1465840985 CA350220048 |
524 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350220055 rs1253414426 |
525 | S>Y | No |
ClinGen gnomAD |
|
|
CA2045399 rs376803515 |
526 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045400 rs146482739 |
527 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045402 rs777477678 |
532 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350220105 rs1371766668 |
533 | L>* | No |
ClinGen gnomAD |
|
|
CA350220114 rs1236411142 |
534 | K>R | No |
ClinGen gnomAD |
|
|
rs1301142717 CA350220120 |
535 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45565539 CA63758565 |
535 | R>S | No |
ClinGen Ensembl |
|
|
rs746525797 CA2045403 |
536 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs562203157 CA63758572 |
537 | I>M | No |
ClinGen gnomAD |
|
|
CA2045405 rs770432096 |
538 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs770432096 CA2045404 |
538 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1311301847 CA350220143 |
539 | V>M | No |
ClinGen TOPMed |
|
|
rs1278402702 CA350220152 |
540 | K>R | No |
ClinGen TOPMed |
|
|
CA350220164 rs1194839233 |
542 | K>E | No |
ClinGen gnomAD |
|
|
rs143432997 CA2045406 |
545 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs45596936 CA63758583 VAR_038995 |
546 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA350220216 rs1433006136 |
549 | D>E | No |
ClinGen gnomAD |
|
|
CA63758598 rs759743976 |
550 | V>M | No |
ClinGen gnomAD |
|
|
rs1375090293 CA350220238 |
553 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs775260737 CA2045409 |
555 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA350220259 rs1403395189 |
556 | T>A | No |
ClinGen TOPMed |
|
|
CA350220261 rs1559098840 |
556 | T>R | No |
ClinGen Ensembl |
|
|
rs1395386601 CA350220271 |
558 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350220307 rs1443191984 |
562 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1323856260 CA350220310 |
563 | E>Q | No |
ClinGen gnomAD |
|
|
CA2045413 rs751476038 |
564 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA63758622 rs1007046295 |
564 | M>K | No |
ClinGen Ensembl |
|
|
CA2045412 rs763995640 |
564 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370610240 CA350220332 |
566 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA63758632 rs370610240 |
566 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA63758641 rs376527975 |
567 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs952333046 CA63758656 |
568 | M>I | No |
ClinGen TOPMed |
|
|
CA63758653 rs572912797 |
568 | M>L | No |
ClinGen Ensembl |
|
|
CA2045414 rs761805495 |
569 | S>L | Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2045417 rs148333022 |
570 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350220360 rs1328290463 |
571 | D>G | No |
ClinGen gnomAD |
|
|
rs754234678 CA2045419 |
572 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA350220366 rs1488452067 |
572 | Y>D | No |
ClinGen gnomAD |
|
|
CA2045420 rs755347714 |
573 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1427049102 CA350220392 |
576 | Q>K | No |
ClinGen gnomAD |
|
|
CA2045421 rs779591334 |
576 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA350220408 rs1418810567 |
578 | Q>E | No |
ClinGen gnomAD |
|
|
rs756727681 CA2045423 |
579 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147098937 CA2045422 |
579 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147316319 CA2045424 |
580 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350220433 rs1290504295 |
582 | C>Y | No |
ClinGen gnomAD |
|
|
rs149251715 CA2045425 |
585 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA63758701 rs72556386 |
586 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2045426 rs769404805 |
587 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294127636 CA350220476 |
588 | L>F | No |
ClinGen gnomAD |
|
|
CA350220483 rs1256823138 |
590 | S>T | No |
ClinGen TOPMed |
|
|
rs868707068 CA63758709 |
591 | I>T | No |
ClinGen Ensembl |
|
|
rs1231020014 CA350220490 |
591 | I>V | No |
ClinGen gnomAD |
|
|
rs1288562732 CA350220500 COSM1148892 |
592 | C>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1227373939 CA350220514 |
594 | S>Y | No |
ClinGen TOPMed |
|
|
rs1217149912 CA350220523 |
596 | Q>K | No |
ClinGen gnomAD |
|
|
rs146000716 CA2045429 |
598 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63758724 rs903762120 |
599 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2045431 rs761796918 |
602 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761796918 CA350220571 |
602 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs45529939 CA63758757 |
604 | M>I | No |
ClinGen Ensembl |
|
|
CA2045433 rs139902940 |
604 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045434 rs761031377 |
605 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs928460450 CA63758760 |
606 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 606 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350220612 rs1273545368 |
608 | N>I | No |
ClinGen gnomAD |
|
|
rs45586639 CA63758762 |
611 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 616 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350220693 rs1224936027 |
619 | E>Q | No |
ClinGen gnomAD |
|
|
rs988981110 CA63758773 |
620 | A>P | No |
ClinGen Ensembl |
|
|
rs754076987 CA2045437 |
621 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 622 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045438 rs755396403 |
622 | R>G | No |
ClinGen ExAC |
|
|
CA350220714 rs368662764 COSM1591683 |
622 | R>H | Variant assessed as Somatic; 4.63e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs368662764 CA63758789 |
622 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765578073 CA350220722 |
623 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045440 rs753198628 |
624 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263851335 CA350220752 |
628 | P>T | No |
ClinGen gnomAD |
|
|
rs201079513 CA2045442 |
629 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745358707 CA2045443 |
633 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755570806 CA2045444 |
634 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1405825913 CA350220808 |
635 | N>K | No |
ClinGen gnomAD |
|
|
CA350220816 rs748883786 |
636 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs61735575 CA63758885 |
638 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs61735575 CA2045447 |
638 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2045448 rs774192985 |
643 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 644 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045449 rs748079139 |
647 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA350220889 rs1357840491 |
647 | M>T | No |
ClinGen TOPMed |
|
|
CA350220886 rs1333142885 |
647 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2045450 rs772026588 |
648 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350220901 rs1295975332 |
649 | I>F | No |
ClinGen gnomAD |
|
|
rs760873184 CA2045452 |
650 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766496483 CA2045453 |
651 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA63758912 rs149315810 |
656 | P>L | No |
ClinGen gnomAD |
|
|
CA350220968 rs759817037 |
658 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 660 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045456 rs577026451 |
661 | N>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs763417180 CA2045458 |
664 | C>W | No |
ClinGen ExAC |
|
|
CA2045459 rs764683169 |
666 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350221032 rs1194250322 |
667 | V>A | No |
ClinGen gnomAD |
|
|
rs1064213 CA2045460 VAR_038996 |
667 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1452397188 CA350221041 |
669 | M>V | No |
ClinGen gnomAD |
|
|
CA63758944 rs370501125 |
670 | N>S | No |
ClinGen ESP |
|
|
rs755635998 CA350221063 |
671 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs147725543 CA2045462 |
673 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754629488 CA2045464 COSM1404343 |
674 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA63758985 rs185593388 |
675 | G>D | No |
ClinGen 1000Genomes |
|
|
CA350221082 rs1440993633 |
675 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 676 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350221097 rs1419008718 |
677 | M>T | No |
ClinGen gnomAD |
|
|
rs1167425548 CA350221093 |
677 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764608375 CA63759001 |
678 | M>I | No |
ClinGen gnomAD |
|
|
CA350221105 rs748000196 |
678 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA2045466 rs748000196 |
678 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771727809 CA2045467 |
679 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746881730 CA2045469 CA350221128 |
681 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA350221124 rs1216565232 |
681 | H>Y | No |
ClinGen gnomAD |
|
|
rs771188954 CA350221132 |
682 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs771188954 CA2045470 |
682 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs6741084 CA2045472 VAR_038997 |
684 | W>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA350221182 rs1199112837 |
689 | G>A | No |
ClinGen TOPMed |
|
|
CA350221180 COSM2906061 rs1197996758 |
689 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1023651638 CA63759027 |
690 | G>R | No |
ClinGen Ensembl |
|
|
rs1264569554 CA350221191 |
691 | C>G | No |
ClinGen TOPMed |
|
|
CA350221226 rs1476261723 |
696 | R>K | No |
ClinGen gnomAD |
|
|
rs570450747 CA2045473 |
697 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1191142602 CA350221231 |
697 | P>S | No |
ClinGen gnomAD |
|
|
rs763406357 CA2045475 |
698 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA350221264 rs1404103805 |
702 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 705 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753326991 CA2045480 |
708 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1574300923 CA350221328 |
709 | A>T | No |
ClinGen Ensembl |
|
|
CA350221353 rs1351946199 |
711 | T>I | No |
ClinGen TOPMed |
|
|
rs1559099363 CA350221369 |
712 | K>N | No |
ClinGen Ensembl |
|
|
CA350221376 rs1295206465 |
713 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1354264358 CA350221383 |
714 | I>V | No |
ClinGen gnomAD |
|
|
CA63759070 rs988644985 |
716 | P>S | No |
ClinGen Ensembl |
|
|
CA350221424 rs778663714 |
718 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045482 rs778663714 |
718 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752227939 CA2045483 |
720 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350221467 rs1262147684 |
721 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs137857586 CA2045484 |
721 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2045485 rs552574507 |
722 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350221512 rs1189544904 |
724 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1559099405 CA350221538 |
725 | I>T | No |
ClinGen Ensembl |
|
|
CA63759094 rs113486162 |
726 | K>E | No |
ClinGen Ensembl |
|
|
rs377704772 CA2045487 |
727 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377704772 CA2045486 |
727 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163258037 CA350221588 |
728 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350221581 rs1472171879 |
728 | I>V | No |
ClinGen gnomAD |
|
|
CA350221590 rs1417691882 |
729 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 730 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350221652 rs1574301028 |
733 | F>V | No |
ClinGen Ensembl |
|
|
CA350221674 rs1236530633 |
734 | P>L | No |
ClinGen gnomAD |
|
|
COSM1404347 rs1296768748 CA350221709 |
737 | K>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs762447591 CA63759113 |
737 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1478780311 CA350221745 |
739 | A>G | No |
ClinGen TOPMed |
|
|
rs1415639744 CA350221752 |
740 | C>Y | No |
ClinGen gnomAD |
|
|
COSM1669641 CA2045489 rs745980461 |
741 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2045491 rs775784784 |
747 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs968446981 CA63759119 |
749 | Y>C | No |
ClinGen TOPMed |
|
|
CA350221871 rs1352781930 |
750 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350221862 rs1280111173 |
750 | V>I | No |
ClinGen gnomAD |
|
|
CA350221913 rs1199836810 |
752 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs936557360 CA63759124 |
752 | I>T | No |
ClinGen TOPMed |
|
|
CA2045493 rs769131256 |
754 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219356364 CA350221969 |
755 | H>Q | No |
ClinGen TOPMed |
|
|
rs1485844471 CA350221963 |
755 | H>R | No |
ClinGen gnomAD |
|
|
rs45471404 CA63759129 |
755 | H>Y | No |
ClinGen Ensembl |
|
|
CA63759132 rs141777553 |
756 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
COSM1220978 CA2045496 rs201009322 |
759 | A>V | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1669643 CA2045498 rs768038425 |
762 | S>L | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2045501 rs764598477 |
764 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2045502 rs752449027 |
765 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs752449027 CA2045503 |
765 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA350222137 rs1435719497 |
768 | T>S | No |
ClinGen gnomAD |
|
|
CA2045504 rs764018961 |
769 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400301767 CA350222154 |
770 | Q>E | No |
ClinGen gnomAD |
|
|
rs751374863 CA2045506 |
771 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA350222236 rs1454732776 |
777 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1337548268 CA350222263 |
779 | D>E | No |
ClinGen gnomAD |
|
|
COSM1262423 rs781307416 CA2045507 |
780 | E>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA350222340 rs1574301187 |
787 | N>T | No |
ClinGen Ensembl |
|
|
rs749567324 CA2045511 |
789 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 791 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868552410 CA63759205 COSM3407462 |
795 | R>C | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2045512 rs768844738 |
795 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350222413 rs1559099665 |
799 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 801 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350222433 rs1195952604 |
802 | D>N | No |
ClinGen gnomAD |
|
|
CA63759237 rs866269984 |
806 | D>E | No |
ClinGen Ensembl |
|
|
CA63759239 rs879684954 |
809 | I>V | No |
ClinGen gnomAD |
|
|
COSM1591678 CA2045514 rs748546401 |
813 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1148900 rs773785512 CA2045516 |
815 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs761069655 CA2045517 |
816 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350222551 rs1168652913 |
818 | C>* | No |
ClinGen gnomAD |
|
|
CA63759255 rs45535433 |
820 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2045519 rs77257531 |
823 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 823 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 826 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751215339 CA2045522 |
827 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2045521 rs763859785 |
827 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1227776693 CA350222616 |
829 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 829 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045523 rs757122551 |
829 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1029093865 CA63759311 |
833 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350222641 rs1389347972 |
833 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs750442833 COSM1153687 CA2045525 |
839 | V>I | endometrium central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA350223350 rs1193365993 |
840 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 840 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63759333 rs45628532 |
841 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1216853108 CA350223417 |
845 | I>L | No |
ClinGen TOPMed |
|
|
rs1361239327 CA350223422 |
845 | I>R | No |
ClinGen TOPMed |
|
|
rs779576198 CA63759337 |
847 | I>M | No |
ClinGen Ensembl |
|
|
rs1432956636 CA350223441 |
847 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780231814 CA2045527 COSM1591676 |
850 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2045528 rs749351301 |
851 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA63759361 rs755013417 |
851 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA350223503 rs1232417536 |
853 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350223529 rs1559099821 |
855 | K>N | No |
ClinGen Ensembl |
|
|
CA350223526 rs1459392225 |
855 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 856 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350223541 rs1291702056 |
856 | A>V | No |
ClinGen gnomAD |
|
|
rs772486621 CA2045532 |
857 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA350223570 rs1278187587 COSM1153688 |
859 | R>C | liver Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA350223572 rs1559099836 |
859 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1382540441 CA350223579 |
860 | S>C | No |
ClinGen gnomAD |
|
|
CA350223613 rs1279748359 |
863 | V>L | No |
ClinGen gnomAD |
|
|
CA350223610 rs1279748359 |
863 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2045533 rs773441467 |
864 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773441467 CA350223625 |
864 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217586914 CA350223635 |
865 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373325949 CA2045534 |
868 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350223689 rs1224507318 |
869 | V>F | No |
ClinGen gnomAD |
|
|
rs777145016 CA2045536 |
870 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350223701 rs777145016 |
870 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1404353 CA2045535 rs771318565 |
870 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1265734549 CA350223711 |
871 | E>G | No |
ClinGen gnomAD |
|
|
CA63759402 rs577168074 |
872 | Y>N | No |
ClinGen 1000Genomes |
|
|
CA2045538 rs199848125 |
873 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2045539 rs199848125 |
873 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2045540 rs761554391 |
876 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350223779 rs1418738372 |
877 | N>Y | No |
ClinGen gnomAD |
|
|
rs1183253855 CA350223808 |
879 | G>S | No |
ClinGen TOPMed |
|
|
rs959974738 CA350223845 |
882 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs959974738 CA350223847 |
882 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs959974738 CA63759422 |
882 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2045542 rs750165191 |
883 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350223880 rs1367794211 |
885 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 885 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63759451 rs45579544 |
888 | K>* | No |
ClinGen Ensembl |
|
|
rs1290524555 CA350223936 |
889 | I>T | No |
ClinGen TOPMed |
|
|
CA2045545 rs1229895654 COSM1168922 |
890 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1574301543 CA350223955 |
891 | V>F | No |
ClinGen Ensembl |
|
|
CA2045547 rs753745164 |
892 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs755068243 CA2045548 |
893 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752979149 CA2045550 |
895 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376271200 CA2045551 |
895 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 896 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781554003 CA2045555 |
898 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2045554 COSM3668920 rs770796285 |
898 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747353547 CA2045553 |
898 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746317818 CA2045556 |
899 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768339587 CA2045557 |
900 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1258449339 CA350224083 |
902 | E>A | No |
ClinGen gnomAD |
|
|
rs143802664 CA2045558 |
903 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1017965256 CA63759509 |
904 | M>I | No |
ClinGen Ensembl |
|
|
CA63759502 rs988419831 |
904 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 905 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045580 rs553817183 |
906 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350225194 rs1364417815 |
906 | N>S | No |
ClinGen TOPMed |
|
|
CA2045581 rs142389942 |
908 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350225223 rs142389942 |
908 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2045584 rs542167395 |
909 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2045583 rs542167395 |
909 | V>M | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA350225257 rs1338651507 |
910 | S>A | No |
ClinGen TOPMed |
|
|
CA2045585 rs765178648 |
911 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350225290 rs1278185167 |
913 | E>K | No |
ClinGen gnomAD |
|
|
CA63760884 rs368151048 |
916 | G>V | No |
ClinGen ESP |
|
|
rs762945791 CA2045587 |
917 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 919 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63760887 rs1042642926 |
920 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350225404 rs1457286816 |
922 | S>C | No |
ClinGen gnomAD |
|
|
CA2045588 rs764175106 |
922 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA350225402 rs1457286816 |
922 | S>R | No |
ClinGen gnomAD |
|
|
rs1476915534 CA350225443 |
924 | K>R | No |
ClinGen gnomAD |
|
|
CA2045589 rs751785949 |
929 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045590 rs757497191 |
932 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA350225543 rs1167949882 |
933 | R>Q | No |
ClinGen gnomAD |
|
|
rs45481595 CA2045591 |
933 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1398830230 CA350225553 |
934 | L>F | No |
ClinGen gnomAD |
|
|
rs1574303529 CA350225566 |
935 | I>V | No |
ClinGen Ensembl |
|
|
CA63760909 VAR_038998 rs45452996 |
937 | S>N | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs45452996 CA350225595 |
937 | S>T | No |
ClinGen TOPMed |
|
|
CA2045594 rs780712693 |
938 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350225611 rs756508194 |
938 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756508194 CA2045593 |
938 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 938 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045595 rs749757642 |
939 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045596 rs757907878 |
941 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350225655 rs757907878 |
941 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053892689 CA63760958 |
943 | V>I | No |
ClinGen gnomAD |
|
|
rs777337128 CA2045597 |
944 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1276390689 CA350225712 |
945 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 945 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370504499 CA2045598 |
947 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1205673795 CA350225750 |
947 | M>T | No |
ClinGen TOPMed |
|
|
rs996685499 CA63760972 |
948 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 949 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776214442 CA2045600 |
950 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs575570411 CA63760998 |
950 | S>R | No |
ClinGen 1000Genomes |
|
|
CA2045601 rs745691558 |
951 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs769508970 CA2045602 |
953 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA350225924 rs1489067403 |
955 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350225933 rs1227890152 |
956 | P>S | No |
ClinGen TOPMed |
|
|
CA350225972 rs1383775052 |
958 | G>D | No |
ClinGen TOPMed |
|
|
CA350225990 rs1190977915 |
959 | A>S | No |
ClinGen gnomAD |
|
|
rs138625989 CA2045603 |
961 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164384396 CA350226039 |
962 | D>N | No |
ClinGen gnomAD |
|
|
rs1416568777 CA350226058 |
963 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 963 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63761008 rs954895968 |
965 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762933309 CA2045604 |
967 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA350226129 rs1378424253 |
967 | M>V | No |
ClinGen TOPMed |
|
|
CA350226175 rs1296568799 |
969 | T>I | No |
ClinGen gnomAD |
|
|
rs764146731 CA2045605 |
970 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202676104 CA350226201 |
971 | Y>C | No |
ClinGen gnomAD |
|
|
CA350226232 rs1285980585 |
972 | D>E | No |
ClinGen gnomAD |
|
|
CA350226229 rs1245581906 |
972 | D>V | No |
ClinGen gnomAD |
|
|
CA350226848 rs1347430509 |
974 | M>I | No |
ClinGen TOPMed |
|
|
CA2045625 rs768661096 |
974 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA350226842 rs1201752471 |
974 | M>V | No |
ClinGen gnomAD |
|
|
rs774116185 CA2045626 |
975 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1574312777 CA350226850 |
975 | I>V | No |
ClinGen Ensembl |
|
|
rs80041559 CA63770070 |
976 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 976 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460613742 CA350226866 |
977 | E>G | No |
ClinGen gnomAD |
|
|
CA2045627 rs139123427 |
979 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1183589022 CA350226879 |
979 | R>W | No |
ClinGen gnomAD |
|
|
rs573155528 CA63770072 |
980 | F>L | No |
ClinGen Ensembl |
|
|
rs773629113 CA2045629 |
982 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA63770077 rs540590447 CA2045630 |
984 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045631 COSM2152924 rs541983270 |
985 | A>V | Variant assessed as Somatic; 0.0008798 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 986 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867538166 CA63770111 |
988 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 991 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 994 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350226997 rs1379056236 |
996 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 997 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753307509 CA2045660 |
1000 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs763448198 CA2045661 |
1000 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs532957115 CA2045663 |
1003 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2045664 rs755581065 |
1004 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1425944906 CA350227070 |
1005 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350227081 rs1177059197 |
1006 | L>H | No |
ClinGen TOPMed |
|
|
rs202019878 CA2045665 |
1007 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476880652 CA350227086 |
1007 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2045667 rs145391804 |
1009 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358938368 CA350227101 |
1009 | L>S | No |
ClinGen TOPMed |
|
|
rs1291575170 CA350227108 |
1010 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1011 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1012 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045670 rs758384283 |
1013 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1014 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350227144 rs1299642020 |
1015 | L>F | No |
ClinGen gnomAD |
|
|
rs1419646425 CA350227181 |
1021 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs777800650 CA2045671 |
1023 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747120855 CA2045673 |
1024 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1025 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045674 rs770852803 |
1026 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1322889782 CA350227236 |
1029 | W>R | No |
ClinGen gnomAD |
|
|
CA2045675 rs776928438 |
1031 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350227263 rs1359157008 |
1032 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775687451 CA2045678 |
1033 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770262547 CA2045677 |
1033 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA350215019 rs1248191847 |
1038 | G>E | No |
ClinGen TOPMed |
|
|
CA350215011 rs1436968752 |
1038 | G>R | No |
ClinGen TOPMed |
|
|
rs765951358 CA2045703 |
1039 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1042 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448078370 CA350215127 |
1044 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1045 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187860950 CA2045704 |
1045 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2045705 rs759035185 |
1048 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA63757980 rs1018396648 |
1049 | I>V | No |
ClinGen TOPMed |
|
|
CA2045707 rs372156221 |
1052 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350215275 rs1201875133 |
1053 | K>N | No |
ClinGen gnomAD |
|
|
rs1284032189 CA350215346 |
1058 | A>S | No |
ClinGen gnomAD |
|
|
rs1315607739 CA350215370 |
1059 | C>F | No |
ClinGen gnomAD |
|
|
CA63757998 rs995370855 |
1060 | L>P | No |
ClinGen TOPMed |
|
|
rs1200397391 CA350215379 |
1060 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1365489588 CA350215390 |
1061 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1061 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2045710 rs751616679 |
1062 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350215405 rs1386584432 |
1062 | C>Y | No |
ClinGen TOPMed |
|
|
rs111844980 CA63758023 |
1064 | L>P | No |
ClinGen Ensembl |
|
|
rs142301170 CA2045711 |
1064 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350215436 rs1469315416 |
1065 | S>N | No |
ClinGen TOPMed |
|
|
CA2045712 rs368268287 |
1068 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2045713 rs750492003 |
1070 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1361791917 CA350215518 |
1070 | S>R | No |
ClinGen TOPMed |
|
|
CA2045714 rs756179375 |
1074 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559120842 CA350215604 |
1076 | S>N | No |
ClinGen Ensembl |
|
|
CA63758048 rs72556384 |
1077 | K>R | No |
ClinGen Ensembl |
|
|
rs780268381 CA2045715 |
1078 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201915547 COSM1591670 CA2045716 |
1078 | R>H | upper_aerodigestive_tract endometrium Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA63758057 rs72556385 |
1079 | S>G | No |
ClinGen Ensembl |
|
|
CA2045718 rs375011962 |
1082 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350215709 rs1490846670 COSM3962163 |
1083 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1294436266 CA350215700 |
1083 | I>V | No |
ClinGen gnomAD |
|
|
rs1272045557 CA350215769 |
1087 | E>G | No |
ClinGen Ensembl |
|
|
CA2045720 rs772474825 |
1088 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs773724171 CA63758072 |
1088 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2045721 rs773724171 |
1088 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2045722 rs369185082 |
1090 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220467632 CA350215862 |
1095 | L>V | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q15111
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| GABA receptor binding | Binding to a gamma-aminobutyric acid (GABA, 4-aminobutyrate) receptor. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+). |
| phospholipase C activity | Catalysis of the reaction: a phospholipid + H2O = 1,2-diacylglycerol + a phosphatidate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| gamma-aminobutyric acid signaling pathway | The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to its receptor on the surface of a target cell. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| positive regulation of receptor binding | Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. |
| regulation of synaptic transmission, GABAergic | Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32383 | PLC1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q1RML2 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Bos taurus (Bovine) | PR |
| P10895 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Bos taurus (Bovine) | SS |
| Q2VRL0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Gallus gallus (Chicken) | PR |
| Q9UPR0 | PLCL2 | Inactive phospholipase C-like protein 2 | Homo sapiens (Human) | PR |
| Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
| Q8N3E9 | PLCD3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Homo sapiens (Human) | SS |
| Q9BRC7 | PLCD4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 | Homo sapiens (Human) | SS |
| P16885 | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Homo sapiens (Human) | SS |
| P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
| Q00722 | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Homo sapiens (Human) | EV |
| Q01970 | PLCB3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Homo sapiens (Human) | EV |
| Q9NQ66 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens (Human) | EV |
| Q9P212 | PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Homo sapiens (Human) | SS |
| P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
| Q15147 | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | Homo sapiens (Human) | PR |
| Q8R3B1 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Mus musculus (Mouse) | SS |
| Q8K394 | Plcl2 | Inactive phospholipase C-like protein 2 | Mus musculus (Mouse) | PR |
| Q8K2J0 | Plcd3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Mus musculus (Mouse) | PR |
| Q8K4S1 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Mus musculus (Mouse) | SS |
| Q7YRU3 | PLCZ | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Sus scrofa (Pig) | PR |
| P10688 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Rattus norvegicus (Rat) | SS |
| Q99P84 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Rattus norvegicus (Rat) | EV |
| Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A5D6R3 | plcd3a | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEGAAGRED | PAPPDAAGGE | DDPRVGPDAA | GDCVTAASGG | RMRDRRSGVA | LPGAAGTPAD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SEAGLLEAAR | ATPRRSSIIK | DPSNQKCGGR | KKTVSFSSMP | SEKKISSAND | CISFMQAGCE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKKVRPNSRI | YNRFFTLDTD | LQALRWEPSK | KDLEKAKLDI | SAIKEIRLGK | NTETFRNNGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ADQICEDCAF | SILHGENYES | LDLVANSADV | ANIWVSGLRY | LVSRSKQPLD | FMEGNQNTPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FMWLKTVFEA | ADVDGNGIML | EDTSVELIKQ | LNPTLKEAKI | RLKFKEIQKS | KEKLTTRVTE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEFCEAFCEL | CTRPEVYFLL | VQISKNKEYL | DANDLMLFLE | AEQGVTHITE | DICLDIIRRY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELSEEGRQKG | FLAIDGFTQY | LLSSECDIFD | PEQKKVAQDM | TQPLSHYYIN | ASHNTYLIED |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QFRGPADING | YIRALKMGCR | SVELDVSDGS | DNEPILCNRN | NMTTHVSFRS | VIEVINKFAF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VASEYPLILC | LGNHCSLPQQ | KVMAQQMKKV | FGNKLYTEAP | LPSESYLPSP | EKLKRMIIVK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GKKLPSDPDV | LEGEVTDEDE | EAEMSRRMSV | DYNGEQKQIR | LCRELSDLVS | ICKSVQYRDF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELSMKSQNYW | EMCSFSETEA | SRIANEYPED | FVNYNKKFLS | RIYPSAMRID | SSNLNPQDFW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NCGCQIVAMN | FQTPGPMMDL | HTGWFLQNGG | CGYVLRPSIM | RDEVSYFSAN | TKGILPGVSP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LALHIKIISG | QNFPKPKGAC | AKGDVIDPYV | CIEIHGIPAD | CSEQRTKTVQ | QNSDNPIFDE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TFEFQVNLPE | LAMIRFVVLD | DDYIGDEFIG | QYTIPFECLQ | PGYRHVPLRS | FVGDIMEHVT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LFVHIAITNR | SGGGKAQKRS | LSVRMGKKVR | EYTMLRNIGL | KTIDDIFKIA | VHPLREAIDM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RENMQNAIVS | IKELCGLPPI | ASLKQCLLTL | SSRLITSDNT | PSVSLVMKDS | FPYLEPLGAI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PDVQKKMLTA | YDLMIQESRF | LIEMADTVQE | KIVQCQKAGM | EFHEELHNLG | AKEGLKGRKL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| NKATESFAWN | ITVLKGQGDL | LKNAKNEAIE | NMKQIQLACL | SCGLSKAPSS | SAEAKSKRSL |
| 1090 | |||||
| EAIEEKESSE | ENGKL |