Q9Y5G0
PR
Gene name |
PCDHGB5 |
Protein name |
Protocadherin gamma-B5 |
Names |
PCDH-gamma-B5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56101 |
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 Q9Y5G0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5G0-F1 | Predicted | AlphaFoldDB |
872 variants for Q9Y5G0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1207833374 CA361450961 |
2 | G>R | No |
ClinGen TOPMed |
|
|
CA3473339 rs771670845 |
3 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128448336 rs1025143102 |
5 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 5 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473340 rs774859147 |
6 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA361450987 rs1589319714 |
6 | G>R | No |
ClinGen Ensembl |
|
|
rs760647666 CA361450993 |
7 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3473342 rs768560617 |
7 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760647666 CA3473341 |
7 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238092530 CA361451007 |
10 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1037240871 CA128448353 |
12 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 12 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574512663 CA3473345 |
13 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1163634615 CA361451031 |
14 | L>M | No |
ClinGen gnomAD |
|
|
CA3473346 rs773536231 |
15 | P>L | No |
ClinGen ExAC |
|
|
CA3473347 rs763077513 |
16 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3473349 rs751567991 |
18 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361451072 rs1329117309 |
20 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361451067 rs1444126814 |
20 | F>L | No |
ClinGen gnomAD |
|
|
CA128448372 rs926901002 |
21 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361451076 rs926901002 |
21 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA128448375 rs931532832 |
23 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361451088 rs1317220760 |
24 | L>V | No |
ClinGen gnomAD |
|
|
rs1365410987 CA361451103 |
26 | C>R | No |
ClinGen gnomAD |
|
|
CA361451114 rs1368284039 |
27 | P>L | No |
ClinGen TOPMed |
|
|
CA3473350 rs755562930 |
28 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227912910 CA361451125 |
29 | L>P | No |
ClinGen gnomAD |
|
|
CA361451129 rs1423880120 |
30 | C>R | No |
ClinGen TOPMed |
|
|
rs995722310 CA128448383 |
32 | Q>H | No |
ClinGen gnomAD |
|
|
rs1309550629 CA361451156 |
33 | I>M | No |
ClinGen gnomAD |
|
|
CA361451173 rs1468529560 |
36 | R>K | No |
ClinGen gnomAD |
|
|
rs1561663429 CA361451182 |
37 | I>T | No |
ClinGen Ensembl |
|
|
rs1202863852 CA361451187 |
38 | P>S | No |
ClinGen gnomAD |
|
|
rs768096349 CA128448384 |
39 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768096349 CA3473351 |
39 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462140853 CA361451208 |
41 | M>T | No |
ClinGen gnomAD |
|
|
rs908511447 CA128448389 |
41 | M>V | No |
ClinGen TOPMed |
|
|
rs753114593 CA3473352 |
42 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs868152545 CA128448399 |
43 | K>E | No |
ClinGen TOPMed |
|
|
rs1244403375 CA361451222 |
43 | K>M | No |
ClinGen gnomAD |
|
|
rs868152545 CA361451218 |
43 | K>Q | No |
ClinGen TOPMed |
|
|
rs756489359 CA3473353 |
44 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361451235 rs1180861423 |
45 | S>F | No |
ClinGen gnomAD |
|
|
CA3473355 rs370063277 |
46 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473356 rs757957397 |
47 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA361451259 rs1323516270 |
49 | N>K | No |
ClinGen TOPMed |
|
|
CA361451256 rs1223394149 |
49 | N>S | No |
ClinGen TOPMed |
|
|
CA361451277 rs1228205036 |
52 | T>R | No |
ClinGen TOPMed |
|
|
rs1462851627 CA361451278 |
53 | D>N | No |
ClinGen gnomAD |
|
|
rs1290641211 CA361451313 |
58 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364315924 CA361451355 |
64 | R>G | No |
ClinGen gnomAD |
|
|
CA3473359 rs768615415 |
64 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA128448411 rs768615415 |
64 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348307728 CA361451374 |
67 | R>P | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 68 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361451396 rs1261830149 |
71 | E>K | No |
ClinGen gnomAD |
|
|
rs901692894 CA128448425 |
73 | P>A | No |
ClinGen TOPMed |
|
|
rs1442407908 CA361451416 |
73 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1162621224 CA361451421 |
74 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361451440 rs1242233046 |
77 | V>L | No |
ClinGen gnomAD |
|
|
rs1242233046 CA361451439 |
77 | V>M | No |
ClinGen gnomAD |
|
|
rs1476175369 CA361451450 |
78 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361451451 rs1191089668 |
78 | S>R | No |
ClinGen gnomAD |
|
|
rs1476175369 CA361451449 |
78 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1422597239 CA361451455 |
79 | A>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs1480641333 CA361451464 |
80 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
| TCGA novel | 80 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050217601 CA128448426 |
80 | E>V | No |
ClinGen TOPMed |
|
|
rs889057054 CA128448431 |
81 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 82 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769693333 CA3473362 |
83 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1413881140 CA361451502 |
86 | V>E | No |
ClinGen gnomAD |
|
|
CA361451514 rs1319043758 |
88 | S>G | No |
ClinGen gnomAD |
|
|
CA3473363 rs772848695 |
89 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1191920974 CA361451529 |
90 | L>Q | No |
ClinGen TOPMed |
|
|
rs763282563 CA3473364 |
91 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766460257 CA3473365 |
94 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361451565 rs1346480691 |
95 | I>T | No |
ClinGen gnomAD |
|
|
CA361451569 rs774602022 |
96 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473366 rs774602022 |
96 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373274513 CA361451571 |
96 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373274513 CA3473367 |
96 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361451577 rs1344884890 |
97 | G>E | No |
ClinGen gnomAD |
|
|
rs1284287216 CA361451591 |
99 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271457230 CA361451651 |
108 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1262009079 CA361451666 |
110 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 116 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756685671 CA3473370 |
117 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA128448445 rs867284324 |
118 | H>Y | No |
ClinGen Ensembl |
|
|
rs754131866 CA3473372 |
119 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA128448457 rs892086829 |
120 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1417953399 CA361451746 |
122 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1435117425 CA361451758 |
123 | I>M | No |
ClinGen TOPMed |
|
|
rs758094508 CA3473373 |
124 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1161211155 CA361451771 |
125 | D>A | No |
ClinGen TOPMed |
|
|
rs1366423528 CA361451766 |
125 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 126 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779535322 CA3473375 |
130 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779535322 CA3473374 |
130 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780671252 CA3473377 |
131 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473378 rs748119609 |
132 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355149152 CA361451833 |
134 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3473379 rs187164796 |
134 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361451836 rs1265530308 |
135 | Q>* | No |
ClinGen TOPMed |
|
|
CA3473381 rs748994672 |
135 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3473382 rs372892054 |
138 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759819103 CA3473384 |
140 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1465360363 CA361451895 |
142 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 143 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772345742 CA3473385 |
145 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473386 rs375890903 |
146 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473388 rs764461630 |
148 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3473389 rs561224063 |
149 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361452017 rs1257000620 |
150 | T>I | No |
ClinGen TOPMed |
|
|
CA3473391 rs766038218 |
152 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361452053 rs201021035 |
153 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128448557 rs200356405 |
153 | I>T | No |
ClinGen Ensembl |
|
|
CA3473392 rs201021035 |
153 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754625742 CA3473393 |
155 | E>K | No |
ClinGen ExAC |
|
|
rs986852077 CA128448568 |
157 | A>E | No |
ClinGen Ensembl |
|
|
CA3473394 rs201846904 |
157 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473395 rs752147264 |
159 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473396 rs756084003 |
162 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1589336934 CA361452157 |
169 | K>E | No |
ClinGen Ensembl |
|
|
CA3473398 rs749131705 |
169 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770681129 CA3473399 |
170 | Y>C | No |
ClinGen ExAC |
|
|
CA361452170 rs1589337370 |
171 | K>Q | No |
ClinGen Ensembl |
|
|
rs932721053 CA361452187 |
173 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs932721053 CA128448586 |
173 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3473402 rs772408476 |
173 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355278714 CA361452198 |
175 | N>S | No |
ClinGen gnomAD |
|
|
CA361452203 rs1259796132 |
176 | P>S | No |
ClinGen gnomAD |
|
|
rs776950213 CA3473406 |
177 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769233612 CA3473405 |
177 | S>R | No |
ClinGen ExAC |
|
|
rs759202675 CA3473410 |
182 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361452251 rs1462726875 |
183 | K>T | No |
ClinGen gnomAD |
|
|
rs910361681 CA128448673 |
186 | Q>* | No |
ClinGen TOPMed |
|
|
CA3473412 rs752285568 |
186 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA128448677 rs940121215 |
187 | D>V | No |
ClinGen Ensembl |
|
|
rs1258068362 CA361452287 |
188 | G>D | No |
ClinGen gnomAD |
|
|
VAR_048571 CA3473413 rs6867460 |
188 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3473414 rs150385715 |
189 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753760185 CA3473415 |
190 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361452313 rs757215015 |
192 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3473416 rs757215015 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3473417 rs778909536 |
193 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1044524998 CA128448701 |
193 | E>K | No |
ClinGen gnomAD |
|
|
rs1257471989 CA361452324 |
194 | L>V | No |
ClinGen TOPMed |
|
|
rs772426523 CA3473419 |
196 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs772426523 CA361452334 |
196 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA128448724 rs200411955 |
201 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473421 rs747131946 |
202 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3473423 rs768663543 |
203 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3473422 rs768663543 |
203 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3473426 rs770231078 |
206 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1561665852 CA361452403 |
206 | S>T | No |
ClinGen Ensembl |
|
|
CA128448763 rs1046077050 |
207 | Y>C | No |
ClinGen TOPMed |
|
|
CA3473428 rs144881560 |
208 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1196162576 CA361452422 |
209 | R>G | No |
ClinGen gnomAD |
|
|
rs141932976 CA3473429 |
209 | R>H | No |
ClinGen 1000Genomes ExAC |
|
|
CA361452436 rs1313274991 |
211 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128448792 rs771638769 |
214 | A>T | No |
ClinGen Ensembl |
|
|
rs1177677138 CA361452452 |
214 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408938686 CA361452473 |
217 | G>D | No |
ClinGen gnomAD |
|
|
rs1300541880 CA361452486 |
219 | H>R | No |
ClinGen gnomAD |
|
|
CA3473433 rs763578317 |
219 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA361452498 rs1400897772 |
221 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3473434 rs753375014 |
221 | P>S | No |
ClinGen ExAC |
|
|
CA361452506 rs1372607921 |
223 | S>R | No |
ClinGen TOPMed |
|
|
rs765198482 CA3473436 |
223 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361452512 rs1338071296 |
224 | G>S | No |
ClinGen gnomAD |
|
|
rs551301850 CA361452524 |
226 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3473437 rs551301850 |
226 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361452527 rs1283760076 |
226 | T>S | No |
ClinGen gnomAD |
|
|
CA3473438 rs758216080 |
228 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3473439 rs779872602 |
229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361452543 rs1255452758 |
229 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361452548 rs1369560562 |
230 | I>V | No |
ClinGen TOPMed |
|
|
CA361452559 rs1376527266 |
231 | Q>H | No |
ClinGen gnomAD |
|
|
rs571120530 CA128448843 |
231 | Q>P | No |
ClinGen 1000Genomes |
|
|
rs866315761 CA128448849 |
232 | V>I | No |
ClinGen Ensembl |
|
|
rs747230922 CA3473440 |
233 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1020690994 CA128448868 |
234 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1488126013 CA361452581 |
235 | A>G | No |
ClinGen gnomAD |
|
|
rs371527677 CA3473443 |
236 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3473442 rs201953825 |
236 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA361452615 rs1589346275 |
240 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs868734014 CA128448883 |
240 | P>S | No |
ClinGen Ensembl |
|
|
rs1265998688 CA361452626 |
242 | F>C | No |
ClinGen TOPMed |
|
|
TCGA novel CA128448897 rs961647759 |
242 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA361452632 rs1376506270 |
243 | N>S | No |
ClinGen gnomAD |
|
|
rs749773693 CA3473446 |
244 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771326288 CA361452647 CA3473447 |
245 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361452650 rs1399067876 |
246 | V>E | No |
ClinGen gnomAD |
|
|
rs774774450 CA3473448 |
246 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375842913 CA3473450 |
247 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300521650 CA361452706 |
254 | N>K | No |
ClinGen gnomAD |
|
|
rs763743728 CA3473451 |
255 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763743728 CA361452708 |
255 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3473453 rs761364649 |
257 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776008122 CA3473452 |
257 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3473455 rs765284630 |
258 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473454 rs765284630 |
258 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200564636 CA3473457 |
260 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361452790 rs1442157400 |
268 | D>E | No |
ClinGen gnomAD |
|
|
rs554339110 CA3473459 |
269 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1377976758 CA361452802 |
270 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201463346 CA3473460 |
271 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781438773 CA3473461 |
271 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA361452815 rs748252181 |
272 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473462 rs748252181 |
272 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775133149 CA3473464 |
274 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA128448984 rs775133149 |
274 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771456321 CA3473466 |
275 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307112913 CA361452848 |
277 | I>S | No |
ClinGen gnomAD |
|
|
rs779158655 CA3473467 |
278 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568248356 CA3473468 |
279 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361452883 rs1320199481 |
281 | F>L | No |
ClinGen gnomAD |
|
|
CA3473470 rs191593174 |
282 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361452900 rs1486049931 |
283 | R>G | No |
ClinGen gnomAD |
|
|
CA3473471 rs761532339 |
284 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3473473 rs772840804 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3473476 rs766277028 |
288 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361452963 rs1438560245 |
289 | S>N | No |
ClinGen gnomAD |
|
|
CA3473477 rs751345684 |
290 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361452983 rs1415503184 |
292 | S>* | No |
ClinGen gnomAD |
|
|
rs1403288140 CA361452995 |
294 | S>G | No |
ClinGen gnomAD |
|
|
CA361453002 rs1400790755 |
295 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145783835 CA128449023 |
296 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145783835 CA3473480 |
296 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128449025 rs576771907 |
298 | T>A | No |
ClinGen 1000Genomes |
|
|
CA361453035 rs1448827116 |
300 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361453064 rs1228007346 |
304 | D>G | No |
ClinGen gnomAD |
|
|
CA3473482 rs756325508 |
304 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs375762745 CA3473483 |
305 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545668357 CA3473484 |
306 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757707945 CA3473485 |
306 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779434482 CA3473486 CA3473487 |
307 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs747872462 CA3473490 |
310 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs945298198 CA128449047 |
310 | E>G | No |
ClinGen TOPMed |
|
|
CA3473489 rs372997829 |
310 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473492 rs769553635 |
311 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs769553635 CA3473491 |
311 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1589354931 CA361453113 |
312 | S>P | No |
ClinGen Ensembl |
|
|
rs770799351 CA3473494 |
313 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774399021 CA3473495 |
314 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3473496 rs759361503 |
316 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1589355843 CA361453147 |
317 | G>E | No |
ClinGen Ensembl |
|
|
rs767415619 CA3473497 |
317 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA361453152 rs1385144710 |
318 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 320 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361453171 rs1447492674 |
321 | G>S | No |
ClinGen gnomAD |
|
|
CA128449108 rs573118488 |
322 | G>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA361453179 rs1299050213 |
322 | G>R | No |
ClinGen gnomAD |
|
|
rs573118488 CA128449111 |
322 | G>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA361453184 rs1342683408 |
323 | L>R | No |
ClinGen gnomAD |
|
|
CA3473500 rs376000100 |
326 | Q>* | No |
ClinGen 1000Genomes ESP ExAC |
|
|
CA3473499 rs376000100 |
326 | Q>E | No |
ClinGen 1000Genomes ESP ExAC |
|
|
CA3473502 rs561995889 |
326 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361453212 rs1346301996 |
328 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs370431268 CA128449119 |
330 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA361453269 rs1054849184 |
336 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA128449126 rs1054849184 |
336 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1200442207 CA361453296 |
339 | N>K | No |
ClinGen TOPMed |
|
|
CA3473505 rs750976328 |
339 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA361453301 rs758823968 |
340 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3473506 rs758823968 |
340 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780620346 CA3473507 |
343 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs780620346 CA128449150 |
343 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs575806440 CA3473508 |
344 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361453340 rs1449312035 |
346 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 347 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361453352 rs1159402714 |
348 | L>P | No |
ClinGen gnomAD |
|
|
rs371809310 CA3473509 |
348 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454578078 CA361453374 |
351 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 354 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 355 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770516092 CA3473512 |
356 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3473511 rs138699584 |
356 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770516092 CA361453408 |
356 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1231167998 CA361453411 |
357 | V>A | No |
ClinGen TOPMed |
|
|
CA3473514 rs201540226 |
357 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128449179 rs201540226 |
357 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361453426 rs1344993471 |
360 | T>A | No |
ClinGen gnomAD |
|
|
rs760422673 CA3473517 |
365 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs564668507 CA128449203 |
365 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs764321114 CA3473519 |
368 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA128449243 rs1029620008 |
369 | D>G | No |
ClinGen TOPMed |
|
|
rs776886197 CA3473521 |
370 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs761907574 CA3473522 |
371 | D>V | No |
ClinGen ExAC |
|
|
rs1387054279 CA361453548 |
378 | V>F | No |
ClinGen TOPMed |
|
|
rs200955363 CA128449247 |
381 | Q>K | No |
ClinGen Ensembl |
|
|
CA361453571 rs1244909697 |
381 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373250809 CA361453593 |
384 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750453381 CA3473524 |
385 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3473525 rs750453381 |
385 | E>K | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473526 rs533695738 |
386 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361453611 rs1393904771 |
387 | P>R | No |
ClinGen TOPMed |
|
|
rs1452064491 CA361453609 |
387 | P>T | No |
ClinGen TOPMed |
|
|
CA3473528 rs755445485 |
388 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3473529 rs781668632 |
389 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3473530 rs370898446 |
390 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451298331 CA361453633 |
391 | I>F | No |
ClinGen TOPMed |
|
|
CA3473531 rs756847972 |
393 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3473532 rs142753281 |
395 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1309292354 CA361453667 |
396 | N>T | No |
ClinGen gnomAD |
|
|
rs368407532 CA3473533 |
397 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361453673 rs1281033457 |
397 | S>P | No |
ClinGen TOPMed |
|
|
rs775357251 CA3473535 |
398 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361453745 rs1287526689 |
407 | D>E | No |
ClinGen gnomAD |
|
|
CA3473537 rs746925566 |
408 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437917208 CA361453758 |
410 | Q>K | No |
ClinGen gnomAD |
|
|
CA3473539 rs370995300 |
411 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361453766 rs1589365110 |
411 | T>P | No |
ClinGen Ensembl |
|
|
CA3473540 rs375619778 |
412 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs182743080 CA128449367 |
412 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs182743080 CA361453772 |
412 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3473541 rs375619778 |
412 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375619778 CA128449355 |
412 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390489498 CA361453780 |
413 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1466560972 CA361453789 |
415 | N>H | No |
ClinGen gnomAD |
|
|
CA361453813 rs1361218028 |
418 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 419 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473545 rs752155618 |
419 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs762678347 CA128449385 |
422 | D>E | No |
ClinGen gnomAD |
|
|
CA128449388 rs1042113954 |
423 | R>G | No |
ClinGen Ensembl |
|
|
CA3473546 rs200724467 |
423 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374441258 CA361453850 |
424 | G>V | No |
ClinGen TOPMed |
|
|
CA361453868 rs1168752842 |
427 | P>L | No |
ClinGen TOPMed |
|
|
CA361453882 rs1456440098 |
429 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361453878 rs1473017519 |
429 | S>P | No |
ClinGen TOPMed |
|
|
rs778389329 CA3473550 |
431 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1444290267 CA361453898 |
432 | I>V | No |
ClinGen gnomAD |
|
|
CA3473551 rs749970800 |
433 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA128449408 rs1049477252 |
434 | V>I | No |
ClinGen TOPMed |
|
|
rs757950073 CA3473552 |
435 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA361453917 rs757950073 |
435 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758530359 CA128449409 |
435 | I>V | No |
ClinGen Ensembl |
|
|
rs937697147 CA128449413 |
436 | L>P | No |
ClinGen TOPMed |
|
|
CA3473555 rs780100815 |
437 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs780100815 CA128449438 |
437 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs550386808 CA3473554 |
437 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781050631 CA3473556 |
438 | I>F | No |
ClinGen ExAC |
|
| TCGA novel | 439 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 440 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361453950 rs1272959259 |
441 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128449486 rs897098728 |
444 | N>K | No |
ClinGen Ensembl |
|
|
CA361453980 rs1465606526 |
445 | A>P | No |
ClinGen gnomAD |
|
|
CA361453981 rs1465606526 |
445 | A>S | No |
ClinGen gnomAD |
|
|
CA3473557 rs747827208 |
446 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361453992 rs1229342978 |
447 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473559 rs773359741 |
448 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763239278 CA3473560 |
449 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1561669837 CA361455081 |
450 | Q>* | No |
ClinGen Ensembl |
|
|
rs367753385 CA3473561 |
451 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774561101 CA3473562 |
451 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473564 rs559370708 |
452 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3473566 rs760899297 |
453 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473569 rs750081604 |
455 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3473571 rs779594817 |
456 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371319055 CA3473570 |
456 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778579612 | 456 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361455260 rs1162604344 |
459 | E>K | No |
ClinGen TOPMed |
|
|
rs780948105 CA3473574 |
461 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361455312 rs1589371168 |
461 | N>T | No |
ClinGen Ensembl |
|
|
CA361455328 rs1252813422 |
462 | P>T | No |
ClinGen TOPMed |
|
|
rs748098945 CA3473575 |
463 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748098945 CA3473576 |
463 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs769046596 CA128449567 |
466 | S>F | No |
ClinGen Ensembl |
|
|
CA361455399 rs781680585 |
467 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473577 rs781680585 |
467 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946281582 CA128449572 |
468 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs946281582 CA361455414 |
468 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361455419 rs1222355355 |
468 | A>V | No |
ClinGen TOPMed |
|
|
rs552966531 CA3473581 |
469 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 470 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324095299 CA361455467 |
471 | C>Y | No |
ClinGen TOPMed |
|
|
rs1301909841 CA361455479 |
472 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3473584 rs761214012 |
472 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231121250 CA361455497 |
473 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs978973236 CA128449621 |
473 | S>W | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361455530 rs1161009679 |
475 | L>R | No |
ClinGen Ensembl |
|
|
CA361455536 rs1589373223 |
476 | D>N | No |
ClinGen Ensembl |
|
|
CA361455575 rs1354621756 |
478 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361455572 rs1589373313 |
478 | G>W | No |
ClinGen Ensembl |
|
|
CA361455591 rs1284243936 |
479 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3473585 rs764432886 |
479 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361455614 rs1192197329 |
481 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3473586 rs776963716 |
481 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1431985190 CA361455646 |
482 | Q>H | No |
ClinGen gnomAD |
|
|
rs1191176960 CA361455652 |
483 | V>L | No |
ClinGen gnomAD |
|
|
rs1589374336 CA361455670 |
484 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 485 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375436846 CA128449646 |
485 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375436846 CA3473588 |
485 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 485 | Y>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375436846 CA361455678 |
485 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361455693 rs765946308 |
486 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765946308 CA3473589 |
486 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751097540 CA3473590 |
487 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1369616193 CA361455714 |
488 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361455707 rs1460754588 |
488 | M>V | No |
ClinGen TOPMed |
|
|
rs201515317 CA3473591 |
489 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361455724 rs1385029299 |
489 | A>T | No |
ClinGen gnomAD |
|
|
rs766526208 CA128449664 |
490 | S>C | No |
ClinGen Ensembl |
|
|
rs1417599033 CA361455759 |
491 | D>A | No |
ClinGen TOPMed |
|
|
CA3473592 rs767025311 |
494 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3473593 rs752648693 |
496 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 496 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777443975 CA3473595 |
497 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749025661 CA3473596 |
498 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361455825 rs749025661 |
498 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746064984 CA3473599 |
499 | S>T | No |
ClinGen ExAC |
|
|
rs751717107 CA128449719 |
500 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1270466401 CA361455836 |
500 | Y>H | No |
ClinGen TOPMed |
|
|
CA3473601 rs775633916 |
501 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1251761184 CA361455846 |
502 | S>T | No |
ClinGen gnomAD |
|
|
CA361455858 rs1561671101 |
503 | M>I | No |
ClinGen Ensembl |
|
|
rs1237333371 CA361455856 |
503 | M>T | No |
ClinGen TOPMed |
|
|
rs1439786491 CA361455853 |
503 | M>V | No |
ClinGen gnomAD |
|
|
CA361455864 rs1180030777 |
504 | S>N | No |
ClinGen gnomAD |
|
|
rs1405309490 CA361455867 |
504 | S>R | No |
ClinGen gnomAD |
|
|
rs747527070 CA3473602 |
505 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776980167 CA3473604 |
506 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762123604 CA3473605 |
506 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1401019314 CA361455893 |
508 | G>E | No |
ClinGen gnomAD |
|
|
CA361455888 rs1325160100 |
508 | G>R | No |
ClinGen gnomAD |
|
|
rs988885728 CA128449754 |
511 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766038311 CA3473606 |
511 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766038311 CA3473607 |
511 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA361455907 rs1277891886 |
511 | F>Y | No |
ClinGen gnomAD |
|
|
CA3473608 rs759226157 |
512 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA128449756 rs1021211609 |
512 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 512 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361455914 rs759226157 |
512 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752195462 CA3473610 |
514 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3473611 rs756009874 |
514 | R>H | Variant assessed as Somatic; 0.0003253 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473613 rs764084700 |
515 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451340982 CA361455937 |
516 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 518 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361455951 rs1182095574 |
518 | Y>C | No |
ClinGen gnomAD |
|
|
rs757165628 CA3473615 |
518 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3473616 rs778817737 |
519 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1344845350 CA361455964 |
520 | Q>* | No |
ClinGen TOPMed |
|
|
CA361455963 rs1344845350 |
520 | Q>E | No |
ClinGen TOPMed |
|
|
CA3473618 rs199516491 |
521 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780007896 CA3473619 |
522 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 522 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467163302 CA361455980 |
523 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 523 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473620 rs555724833 |
524 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1354039219 CA361455994 |
525 | E>* | No |
ClinGen gnomAD |
|
|
rs981935920 CA128449826 |
527 | T>P | No |
ClinGen TOPMed |
|
|
CA3473622 rs575856599 |
529 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361456018 rs1353862646 |
529 | Q>P | No |
ClinGen gnomAD |
|
|
CA3473624 rs770212703 |
531 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA361456031 rs773556952 |
531 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361456032 rs773556952 |
531 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473625 rs773556952 |
531 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473626 rs770354956 |
535 | S>L | No |
ClinGen TOPMed |
|
|
CA3473628 rs375166529 |
536 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs888467903 CA128449859 |
537 | A>E | No |
ClinGen gnomAD |
|
|
rs771689220 CA3473629 |
537 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361456068 rs888467903 |
537 | A>V | No |
ClinGen gnomAD |
|
|
CA3473630 rs774893843 |
538 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361456073 rs1300675776 |
538 | L>R | No |
ClinGen TOPMed |
|
|
rs544697703 CA3473631 |
539 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1478736881 CA361456085 |
540 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1472441281 CA361456081 |
540 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs564705346 CA3473632 |
542 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
rs1420211451 CA361456103 |
543 | S>N | No |
ClinGen gnomAD |
|
|
rs1420211451 CA361456104 |
543 | S>T | No |
ClinGen gnomAD |
|
|
CA361456116 rs1460072742 |
545 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753865606 CA3473633 |
546 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs369379702 CA3473635 |
548 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 549 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750173338 CA3473636 |
549 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA128449880 rs960438025 |
550 | D>G | No |
ClinGen Ensembl |
|
|
rs187080333 CA3473641 |
551 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187080333 CA3473640 |
551 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770231108 CA3473643 |
553 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA3473642 rs748714301 |
553 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs111395890 CA3473644 |
554 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1430426384 CA361456195 |
554 | N>K | No |
ClinGen TOPMed |
|
|
rs760211919 CA3473648 |
557 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA128449904 rs760211919 |
557 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3473647 rs62621781 |
557 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768345936 CA3473649 |
558 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs776266997 CA3473650 |
560 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA3473651 rs776266997 |
560 | Y>H | Variant assessed as Somatic; 0.0002325 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361456273 rs372479779 |
561 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473653 rs547922730 |
561 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3473652 rs372479779 |
561 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473656 rs371245499 |
562 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561672586 CA361456294 |
562 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs369747431 CA128449963 |
564 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128449978 rs866681573 |
566 | D>N | No |
ClinGen Ensembl |
|
|
rs1304936728 CA361456365 |
568 | S>C | No |
ClinGen gnomAD |
|
|
CA361456380 rs1233031581 |
569 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3473660 rs756646382 |
570 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473663 rs749737928 |
572 | D>G | Variant assessed as Somatic; 0.000186 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3473661 rs778294045 |
572 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749737928 CA3473662 |
572 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs377634920 CA3473664 |
573 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1223683416 CA361456428 |
573 | M>V | No |
ClinGen gnomAD |
|
|
rs746731144 CA3473665 |
574 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768366007 CA3473666 |
575 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA128450027 rs971471583 |
575 | P>R | No |
ClinGen TOPMed |
|
|
rs768366007 CA361456456 |
575 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs530551805 CA3473667 |
576 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3473669 rs747617678 |
576 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473668 rs747617678 |
576 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361456476 rs1391939612 |
577 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361456528 rs1312435366 |
580 | P>L | No |
ClinGen TOPMed |
|
|
rs1410554488 CA361456534 |
581 | G>S | No |
ClinGen TOPMed |
|
|
CA128450054 rs759178048 |
582 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA361456614 rs1189359878 |
587 | V>A | No |
ClinGen gnomAD |
|
|
rs773962582 CA3473674 |
589 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361456656 rs1271195619 |
590 | V>G | No |
ClinGen gnomAD |
|
|
CA3473676 rs570331620 |
590 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128450059 rs570331620 |
590 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA361456670 rs752796935 |
591 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473678 rs767228671 |
592 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1252786273 CA361456697 |
593 | D>E | No |
ClinGen gnomAD |
|
|
rs141997055 CA361456713 |
594 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141997055 CA3473679 |
594 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473680 rs754433753 |
596 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757691247 CA3473681 |
598 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779347793 CA3473682 |
600 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA361456804 rs1398017139 |
601 | S>A | No |
ClinGen gnomAD |
|
|
rs746168026 CA3473683 |
601 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361456851 rs1327750979 |
604 | V>L | No |
ClinGen gnomAD |
|
|
CA361456865 rs1334013330 |
606 | Q>K | No |
ClinGen gnomAD |
|
|
CA3473688 rs769384438 |
606 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA128450178 rs911365297 |
607 | A>T | No |
ClinGen TOPMed |
|
|
CA3473689 rs566695854 |
608 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749264259 CA3473690 |
608 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1257117587 CA361456913 |
609 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3473691 rs760477759 |
610 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361456921 rs1486799675 |
610 | P>T | No |
ClinGen gnomAD |
|
|
CA361456934 rs1257286209 |
611 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 611 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361456938 rs1257286209 |
611 | G>V | No |
ClinGen gnomAD |
|
|
rs1173181110 CA361456981 |
614 | S>I | No |
ClinGen gnomAD |
|
|
rs759278103 CA3473693 |
617 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166854292 CA361457010 |
617 | L>P | No |
ClinGen gnomAD |
|
|
CA361457024 rs1160323943 |
618 | R>H | No |
ClinGen TOPMed |
|
|
CA361457017 rs1402446986 |
618 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 619 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767278001 CA3473694 |
619 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361457052 rs1400468651 |
620 | G>E | No |
ClinGen gnomAD |
|
|
CA3473695 rs775731140 |
620 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1589394410 CA361457069 |
622 | V>G | No |
ClinGen Ensembl |
|
|
rs1226741326 CA361457066 |
622 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3473697 rs538358679 |
623 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1042095164 CA128450221 |
623 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753846360 CA3473699 |
624 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967436443 CA128450225 |
625 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361457103 rs967436443 |
625 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3473700 rs765622041 |
625 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs967436443 CA361457105 |
625 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 626 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750835037 CA3473701 |
626 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA128450238 rs907315450 |
627 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361457113 rs758879836 |
627 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs758879836 CA3473702 |
627 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs907315450 CA361457116 |
627 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3473705 rs747874428 |
630 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128450281 rs755667675 |
632 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201599536 CA3473708 |
635 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201599536 CA361457232 |
635 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373709904 CA3473709 |
635 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1373305464 CA361457240 |
636 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 637 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232257433 CA361457257 |
637 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778871485 CA128450296 |
637 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778871485 CA3473711 |
637 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771923280 CA3473713 |
640 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361457319 rs1242848324 |
641 | A>G | No |
ClinGen gnomAD |
|
|
rs760963865 CA3473715 |
641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA128450314 rs368799436 |
642 | V>G | No |
ClinGen ESP |
|
|
CA361457324 rs1253013919 |
642 | V>M | No |
ClinGen gnomAD |
|
|
CA361457342 rs768694058 |
643 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs768694058 CA3473716 |
643 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589398315 CA361457345 |
644 | D>Y | No |
ClinGen Ensembl |
|
|
CA3473717 rs62378448 |
646 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761746196 CA3473718 |
647 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473719 rs578223384 |
648 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361457415 rs1469206078 |
649 | P>A | No |
ClinGen TOPMed |
|
|
CA361457448 rs1377742612 |
651 | S>C | No |
ClinGen TOPMed |
|
|
rs763547099 CA3473721 |
652 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766865642 CA3473722 |
653 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209135002 CA361457482 |
654 | A>D | No |
ClinGen TOPMed |
|
|
rs751908680 CA3473723 |
654 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1225718379 CA361457499 |
656 | L>V | No |
ClinGen gnomAD |
|
|
rs753507768 CA3473726 |
657 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3473727 rs574278907 |
658 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3473729 rs376189143 |
659 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361457557 rs1282646842 |
660 | F>L | No |
ClinGen TOPMed |
|
|
CA3473730 rs771937544 |
660 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1589400848 CA361457570 |
661 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 665 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361457670 rs1428204829 |
667 | V>M | No |
ClinGen gnomAD |
|
|
CA3473734 rs369250985 |
668 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 669 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762060556 CA3473735 |
669 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773410293 CA361457706 |
670 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773410293 CA3473737 |
670 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459833287 CA361457726 |
671 | I>V | No |
ClinGen gnomAD |
|
|
CA3473738 rs763561348 |
672 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA361457768 rs1444566578 |
673 | D>E | No |
ClinGen gnomAD |
|
|
rs543908773 CA3473739 |
673 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543908773 CA361457763 |
673 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3473740 rs751998425 |
674 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA128450434 rs377393833 |
674 | R>H | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 674 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201457414 CA3473741 |
675 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361457781 rs1375670164 |
675 | P>S | No |
ClinGen TOPMed |
|
|
rs753503057 CA3473743 |
676 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs778405500 CA3473745 |
677 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 678 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307583379 CA361457839 |
679 | D>E | No |
ClinGen gnomAD |
|
|
rs370071207 CA3473747 |
680 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749867110 CA3473746 |
680 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1042097050 CA128450482 |
681 | Q>* | No |
ClinGen Ensembl |
|
|
CA3473748 rs779918187 |
681 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs374505357 CA3473749 |
683 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA128450492 rs1055031939 |
684 | L>V | No |
ClinGen TOPMed |
|
|
rs754765633 CA3473750 |
685 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1188334062 CA361457913 |
685 | Q>R | No |
ClinGen gnomAD |
|
|
rs914854634 CA128450517 |
688 | L>R | No |
ClinGen TOPMed |
|
|
CA3473751 rs376855933 |
688 | L>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 689 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361457966 rs1411721247 |
689 | V>M | No |
ClinGen gnomAD |
|
|
CA361457998 rs1561675523 |
691 | A>G | No |
ClinGen Ensembl |
|
|
rs559051247 CA128450529 |
691 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3473754 rs371270054 |
694 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473755 rs201102949 |
695 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3473756 rs773459521 |
695 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA361458049 rs1347196081 |
695 | I>S | No |
ClinGen TOPMed |
|
|
CA361458077 rs771117256 |
697 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771117256 CA3473758 |
697 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361458084 rs1200450595 |
698 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs370433551 CA3473761 |
701 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361458103 rs1271282204 |
701 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3473762 rs572459159 |
702 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs749957043 CA361458112 |
703 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749957043 CA3473766 |
703 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361458116 rs1375797222 |
704 | I>L | No |
ClinGen gnomAD |
|
|
CA361458122 rs1306520918 |
704 | I>M | No |
ClinGen gnomAD |
|
|
rs1282129298 CA361458128 |
706 | A>T | No |
ClinGen gnomAD |
|
|
CA3473768 rs765839538 |
706 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473771 rs373890751 |
707 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373890751 CA3473772 |
707 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475373529 CA361458137 |
708 | A>T | No |
ClinGen TOPMed |
|
|
rs756430299 CA3473774 |
710 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756430299 CA3473773 |
710 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159137769 CA361458160 |
712 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361458162 rs1485452553 |
712 | R>L | No |
ClinGen TOPMed |
|
|
rs1184804812 CA361458165 |
713 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976476082 CA128450589 |
714 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3473775 rs749494967 |
714 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1561676065 CA361458196 |
718 | A>P | No |
ClinGen Ensembl |
|
|
CA3473779 rs774476991 |
719 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774476991 CA128450613 |
719 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566639489 CA3473780 |
719 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361458219 rs1455484413 |
721 | S>R | No |
ClinGen gnomAD |
|
|
CA361458228 rs1319450732 |
722 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 725 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267834290 CA361458246 |
725 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3473783 rs760976345 |
726 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 727 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374584997 CA3473785 |
730 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762588918 CA361458287 |
731 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762588918 CA3473786 |
731 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190006023 CA3473788 |
732 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3473787 rs190006023 |
732 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128450645 rs1025265322 |
732 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3473789 rs754904671 |
734 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128450667 rs538201613 |
736 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA3473791 rs538201613 |
736 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs752660585 CA3473792 |
737 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752660585 CA3473793 |
737 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473795 rs754175136 |
738 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777710801 CA3473794 |
738 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3473796 rs757500171 |
740 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs745917638 CA3473799 |
741 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745917638 CA3473798 |
741 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214813312 CA361458346 |
742 | G>E | No |
ClinGen TOPMed |
|
|
rs114776679 CA3473800 |
742 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776965891 CA3473803 |
745 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327384409 CA361458364 |
745 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 745 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361458369 rs1271706599 |
746 | Y>H | No |
ClinGen TOPMed |
|
|
rs372561902 CA3473804 |
747 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs534277122 CA3473806 |
750 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3473807 rs759135733 |
751 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 752 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361458448 rs903146096 |
753 | A>G | No |
ClinGen gnomAD |
|
|
CA361458439 rs1335444355 |
753 | A>T | No |
ClinGen gnomAD |
|
|
rs903146096 CA128450722 |
753 | A>V | No |
ClinGen gnomAD |
|
|
rs1589413791 CA361458457 |
754 | H>R | No |
ClinGen Ensembl |
|
|
rs1468153713 CA361458474 |
755 | T>I | No |
ClinGen gnomAD |
|
|
CA361458517 rs375490385 |
758 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375490385 CA3473809 |
758 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3473811 rs574141234 |
759 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128450735 rs1054517262 |
763 | L>P | No |
ClinGen TOPMed |
|
|
CA361458593 rs1323719998 |
765 | C>R | No |
ClinGen TOPMed |
|
|
CA361458597 rs1158396440 |
765 | C>Y | No |
ClinGen gnomAD |
|
|
rs889302779 CA128450740 |
766 | S>G | No |
ClinGen Ensembl |
|
|
rs1346018954 CA361458620 |
767 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA128450746 rs542969819 |
768 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361458670 rs1399052013 |
770 | S>N | No |
ClinGen TOPMed |
|
|
CA3473813 rs757449650 |
772 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 772 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3473814 rs779145110 |
773 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3473815 rs750585724 |
774 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs758540898 CA3473816 |
775 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361458735 rs1329103788 |
776 | L>F | No |
ClinGen gnomAD |
|
|
rs779993462 CA3473817 |
776 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA361458741 rs1439726103 |
777 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1287515286 CA361458753 |
778 | G>R | No |
ClinGen gnomAD |
|
|
CA3473819 rs141917215 |
779 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760132234 CA3473818 |
780 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3473820 rs769092002 |
780 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3473821 rs201372696 |
781 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 781 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748464990 CA3473822 |
786 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748464990 CA361458848 |
786 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376734880 CA3473823 |
787 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361458910 rs1181845890 |
791 | S>G | No |
ClinGen gnomAD |
|
|
CA361458913 rs1258690272 |
791 | S>N | No |
ClinGen gnomAD |
|
|
rs574905149 CA3473824 |
792 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574905149 CA128450825 |
792 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3473825 rs759107285 |
793 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361458944 rs1158150708 |
794 | T>A | No |
ClinGen gnomAD |
|
|
CA361458959 rs1456963604 |
795 | S>C | No |
ClinGen gnomAD |
|
|
CA361458961 rs1456963604 |
795 | S>F | No |
ClinGen gnomAD |
|
|
rs1398126615 CA361458972 |
796 | H>R | No |
ClinGen gnomAD |
|
|
rs568448786 CA3478528 |
800 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128409902 rs951185891 |
802 | P>L | No |
ClinGen gnomAD |
|
|
rs983998465 CA128409930 |
803 | P>H | No |
ClinGen Ensembl |
|
|
CA3478530 rs750564390 |
805 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478531 rs758427900 |
808 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1016713543 CA128409955 |
809 | F>L | No |
ClinGen Ensembl |
|
|
rs1163193977 CA361566926 |
811 | Q>R | No |
ClinGen TOPMed |
|
|
CA3478532 rs201391904 |
812 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361566953 rs1470545451 |
813 | Q>H | No |
ClinGen TOPMed |
|
|
rs755464933 CA3478534 |
815 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361566994 rs200418116 |
816 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200418116 CA3478535 |
816 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304361659 CA361567019 |
817 | T>I | No |
ClinGen gnomAD |
|
|
rs1595274161 CA361567006 |
817 | T>P | No |
ClinGen Ensembl |
|
|
CA3478537 rs538734954 |
818 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478539 rs773899530 |
819 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361567042 rs773899530 |
819 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478538 rs773899530 |
819 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3478556 rs778130416 |
821 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361568554 rs1246198657 |
822 | N>I | No |
ClinGen TOPMed |
|
|
CA361568557 rs1216666169 |
822 | N>K | No |
ClinGen TOPMed |
|
|
rs546453598 CA3478558 |
824 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361568605 rs1240988786 |
826 | T>I | No |
ClinGen gnomAD |
|
|
rs746487145 CA3478560 |
827 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361568615 rs1595961990 |
828 | T>P | No |
ClinGen Ensembl |
|
|
CA361568623 rs1303924776 |
828 | T>S | No |
ClinGen TOPMed |
|
|
rs1386912520 CA361568660 |
830 | P>L | No |
ClinGen gnomAD |
|
|
rs1422538114 CA361568652 |
830 | P>S | No |
ClinGen gnomAD |
|
|
rs1453435374 CA361568667 |
831 | N>D | No |
ClinGen gnomAD |
|
|
CA3478561 rs377061064 |
831 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361568730 rs1417754900 |
833 | Q>P | No |
ClinGen gnomAD |
|
|
rs984518760 CA128414138 |
835 | D>Y | No |
ClinGen Ensembl |
|
|
CA3478565 rs773048793 |
840 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361568874 rs1326296096 |
842 | M>V | No |
ClinGen gnomAD |
|
|
CA361568953 rs1241228956 |
845 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA128414155 rs769108315 |
847 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3478584 rs762789865 |
850 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770587030 CA3478585 |
850 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361569738 rs1456176347 |
854 | S>G | No |
ClinGen gnomAD |
|
|
CA361569743 rs1180757756 |
854 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361569756 rs1473736492 |
855 | S>F | No |
ClinGen gnomAD |
|
|
CA361569752 rs1237904575 |
855 | S>P | No |
ClinGen gnomAD |
|
|
CA128417740 rs905130929 |
857 | L>P | No |
ClinGen TOPMed |
|
|
CA361569775 rs1448442252 |
858 | G>R | No |
ClinGen TOPMed |
|
|
CA3478590 rs761149166 |
859 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752758180 CA3478589 |
859 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361569797 rs1466168256 |
860 | G>A | No |
ClinGen gnomAD |
|
|
rs754203270 CA3478592 |
862 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361569811 rs1278517639 |
862 | G>S | No |
ClinGen TOPMed |
|
|
COSM1434613 COSM1434610 COSM1434636 COSM1434620 COSM1434638 COSM1434609 COSM1434635 CA361569834 rs1457918073 COSM1434622 COSM1434630 COSM1434619 COSM1434612 COSM1434621 COSM1434625 COSM1434628 COSM1434615 COSM1434631 COSM1434634 COSM1434618 COSM1434614 COSM1434623 COSM1434611 COSM1434626 COSM1434616 COSM1434624 COSM1434627 COSM1434617 |
864 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA128417772 rs879030278 |
864 | M>R | No |
ClinGen TOPMed |
|
|
CA128417771 rs879030278 |
864 | M>T | No |
ClinGen TOPMed |
|
|
rs757663132 CA3478593 |
864 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA128417773 rs143630962 |
867 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA361569871 |
868 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA3478595 |
868 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148119281 CA3478596 |
869 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM252705 COSM252695 COSM252694 COSM252689 COSM252703 COSM252706 COSM252687 COSM252702 COSM252686 COSM252700 COSM252699 COSM252707 COSM252692 COSM252698 rs780918754 COSM252690 COSM252693 COSM252701 COSM252697 COSM252685 COSM252704 COSM252691 COSM252688 COSM252696 CA3478597 COSM252684 |
869 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361569882 rs780918754 |
869 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361569892 rs1286219897 |
870 | Y>C | No |
ClinGen TOPMed |
|
|
rs370503146 CA361569900 CA128417777 |
871 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1430257603 CA361569909 |
872 | P>S | No |
ClinGen TOPMed |
|
|
CA361569934 rs1194909537 |
874 | F>S | No |
ClinGen gnomAD |
|
|
rs1596312562 CA361569940 |
875 | T>P | No |
ClinGen Ensembl |
|
|
CA361569954 rs1279056657 |
876 | L>R | No |
ClinGen gnomAD |
|
|
CA361569967 CA128417780 rs779589499 |
877 | Q>H | No |
ClinGen gnomAD |
|
|
CA361569972 rs1185153127 |
878 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1542463 COSM1542479 COSM1542470 COSM1542466 COSM1542482 COSM1542480 COSM1542471 COSM1542468 COSM1542464 COSM1542455 COSM1542458 COSM1542467 COSM1542475 CA3478601 COSM1542469 rs116366286 COSM1542456 COSM1542474 COSM1542453 COSM1542454 COSM1542478 COSM1542459 COSM1542465 COSM1542460 COSM1542461 COSM1542457 COSM1542462 COSM1542472 |
879 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs770767470 CA3478602 |
880 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361570002 rs774071540 |
881 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774071540 CA3478603 |
881 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478604 rs759809591 |
883 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1261501 COSM1261498 CA3478605 COSM1261488 COSM1261490 COSM1261496 COSM1261482 COSM1261491 COSM1261494 COSM1261487 COSM1261511 COSM1261484 COSM1261508 COSM1261493 COSM1261503 rs61749029 COSM1261500 COSM1261507 COSM1261509 COSM1261504 COSM1261495 COSM1261485 COSM1261499 COSM1261497 COSM1261483 COSM1261489 COSM1261492 COSM1261486 |
883 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA128417831 rs979000054 |
886 | V>I | No |
ClinGen TOPMed |
|
|
rs760786015 CA3478607 |
889 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341623011 CA361570104 |
890 | G>D | No |
ClinGen gnomAD |
|
|
CA128417833 rs548074156 |
890 | G>S | No |
ClinGen 1000Genomes |
|
|
CA361570117 rs1250292751 |
891 | S>I | No |
ClinGen TOPMed |
|
|
CA3478608 rs201009079 |
892 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478610 rs377350933 |
898 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128417877 rs1027676257 |
899 | A>T | No |
ClinGen Ensembl |
|
|
rs1256158642 CA361570180 |
899 | A>V | No |
ClinGen gnomAD |
|
|
CA128417880 rs779731716 |
901 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs536900646 CA3478612 |
902 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536900646 CA3478613 |
902 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765756193 CA3478611 |
902 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767257788 CA3478614 |
904 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361570222 rs767257788 |
904 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361570244 rs1352222210 |
906 | A>V | No |
ClinGen TOPMed |
|
|
CA361570255 rs1175280816 |
907 | P>L | No |
ClinGen gnomAD |
|
|
rs752246201 CA3478615 |
908 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA361570256 rs1306158892 |
908 | A>T | No |
ClinGen TOPMed |
|
|
CA3478617 rs777082914 |
910 | G>D | No |
ClinGen ExAC |
|
|
CA3478618 rs200541479 |
912 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405623579 CA361570300 |
913 | N>K | No |
ClinGen gnomAD |
|
|
rs202071188 CA3478620 |
917 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422052114 CA361570368 |
923 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1384881403 CA361570382 |
924 | K>Y | No |
ClinGen gnomAD |
No associated diseases with Q9Y5G0
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9HC56 | PCDH9 | Protocadherin-9 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSGAGELGR | AERLPVLFLF | LLSLFCPALC | EQIRYRIPEE | MPKGSVVGNL | ATDLGFSVQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPTRKLRVSS | EKPYFTVSAE | SGELLVSSRL | DREEICGKKP | ACALEFEAVA | ENPLNFYHVN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEIEDINDHT | PKFTQNSFEL | QISESAQPGT | RFILEVAEDA | DIGLNSLQKY | KLSLNPSFSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IIKEKQDGSK | YPELALEKTL | DREQQSYHRL | VLTALDGGHP | PLSGTTELRI | QVTDANDNPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VFNRDVYRVS | LRENVPPGTT | VLQVSATDQD | EGINSEITYS | FYRTGQIFSL | NSKSGEITTQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKLDFEETKE | YSMVVEGRDG | GGLVAQCTVE | INIQDENDNS | PEVTFHSLLE | MILENAVPGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LIALIKIHDQ | DSGENGEVNC | QLQGEVPFKI | ISSSKNSYKL | VTDGTLDREQ | TPEYNVTITA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TDRGKPPLSS | SISVILHIRD | VNDNAPVFHQ | ASYLVSVPEN | NPPGASIAQV | CASDLDLGLN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GQVSYSIMAS | DLEPLALASY | VSMSAQSGVV | FAQRAFDYEQ | LRTFELTLQA | RDQGSPALSA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NVSLRVLVGD | RNDNAPRVLY | PALGPDGSAL | FDMVPRAAEP | GYLVTKVVAV | DADSGHNAWL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SYHVLQASEP | GLFSLGLRTG | EVRTARALGD | RDAARQRLLV | AVRDGGQPPL | SATATLHLVF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ADSLQEVLPD | ITDRPVPSDP | QAELQFYLVV | ALALISVLFL | LAVILAVALR | LRRSSSPAAW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SCFQPGLCVK | SGPVVPPNYS | QGTLPYSYNL | CVAHTGKTEF | NFLKCSEQLS | SGQDILCGDS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SGALFPLCNS | SESTSHPELQ | APPNTDWRFS | QAQRPGTSGS | QNGDDTGTWP | NNQFDTEMLQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AMILASASEA | ADGSSTLGGG | AGTMGLSARY | GPQFTLQHVP | DYRQNVYIPG | SNATLTNAAG |
| 910 | 920 | ||||
| KRDGKAPAGG | NGNKKKSGKK | EKK |