Q9ULB4
PR
Gene name |
CDH9 |
Protein name |
Cadherin-9 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1007 |
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 Q9ULB4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9ULB4-F1 | Predicted | AlphaFoldDB |
673 variants for Q9ULB4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA359456864 rs1327179956 |
3 | T>I | No |
ClinGen TOPMed |
|
|
rs1229929979 CA359456850 |
5 | H>R | No |
ClinGen TOPMed |
|
|
CA3216446 rs2288467 VAR_029799 |
6 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359456845 rs1254280837 |
6 | Y>H | No |
ClinGen TOPMed |
|
|
CA359456830 rs1197909443 |
8 | P>T | No |
ClinGen gnomAD |
|
|
TCGA novel rs770257797 CA3216444 |
10 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA359456816 rs1163805294 |
10 | F>S | No |
ClinGen gnomAD |
|
|
rs377624510 CA3216443 |
11 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1463978317 CA359456801 |
12 | W>* | No |
ClinGen TOPMed |
|
|
rs866768968 CA116180276 |
12 | W>L | No |
ClinGen Ensembl |
|
|
CA3216442 rs771642548 |
13 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216441 rs771642548 |
13 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150928683 CA3216440 |
14 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143910415 CA3216439 |
15 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756901799 CA116180275 |
16 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs753622536 CA3216437 |
16 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756901799 CA3216438 |
16 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359456776 rs1446739727 |
16 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 16 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216436 rs777575404 |
17 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA116180274 rs976296601 |
17 | H>R | No |
ClinGen TOPMed |
|
|
CA3216434 rs752560018 |
18 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA116180273 rs966411198 |
18 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1421648965 CA359456761 |
19 | V>L | No |
ClinGen gnomAD |
|
|
rs1381024715 CA359456745 |
21 | T>N | No |
ClinGen gnomAD |
|
|
CA359456735 rs767592770 |
23 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA359456720 rs1258167972 |
25 | Q>P | No |
ClinGen gnomAD |
|
|
rs1258167972 CA359456719 |
25 | Q>R | No |
ClinGen gnomAD |
|
|
CA359456687 rs141182736 |
29 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751650642 CA359456685 |
30 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277813268 CA359456679 |
30 | S>R | No |
ClinGen gnomAD |
|
|
rs751650642 CA3216431 |
30 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359456656 rs1218370733 |
34 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766552706 CA3216430 |
35 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1320936157 CA359456629 |
37 | I>R | No |
ClinGen TOPMed |
|
|
CA359456624 rs2288466 |
38 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 38 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_029800 CA3216429 rs2288466 |
38 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770156317 CA3216427 |
39 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs146128920 CA3216424 COSM1543347 |
45 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA359456581 rs1311387363 |
45 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs146128920 CA3216425 |
45 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359456574 rs1224180833 |
46 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 47 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216423 rs142920028 |
47 | M>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs988792875 CA116180272 |
49 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1165848 rs1402112195 CA359456553 |
49 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1402112195 COSM1543348 CA359456555 |
49 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359456547 rs1175298742 |
50 | R>L | No |
ClinGen Ensembl |
|
|
CA3216421 rs770511564 |
51 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs777431054 CA3216419 |
53 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755843215 COSM1292123 CA3216418 |
53 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 57 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359456425 rs1262000130 |
67 | T>A | No |
ClinGen gnomAD |
|
|
rs1202917872 CA359456421 |
67 | T>I | No |
ClinGen gnomAD |
|
|
CA3216413 rs766438507 |
68 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766438507 CA116180271 |
68 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359456418 rs1267805406 |
68 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375977877 CA3216412 |
69 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750593026 CA3216410 |
70 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560374583 CA116180270 |
70 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1297788075 CA359456404 |
71 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA359456397 COSM1695523 rs1380652968 |
72 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1365509693 CA359456380 |
74 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216387 rs761679117 |
78 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1194382519 CA359322669 |
79 | T>S | No |
ClinGen gnomAD |
|
|
rs767893011 CA3216385 |
81 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359322641 rs1262086595 |
83 | K>E | No |
ClinGen TOPMed |
|
|
rs762587573 CA3216384 |
84 | G>E | No |
ClinGen ExAC |
|
|
rs149377000 CA3216382 |
85 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1195343302 CA359322628 |
85 | D>H | No |
ClinGen TOPMed |
|
|
COSM1695522 rs868604878 CA115795250 |
86 | G>E | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA359322620 rs1311488475 |
86 | G>R | No |
ClinGen gnomAD |
|
|
CA115795225 rs919561065 |
87 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216380 rs776446452 |
90 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA359322584 rs1326621458 |
91 | I>T | No |
ClinGen gnomAD |
|
|
rs1199491211 CA359322587 |
91 | I>V | No |
ClinGen TOPMed |
|
|
rs1160368122 CA359322571 |
93 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 95 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746934331 CA3216378 |
96 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3216376 rs758265890 |
98 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3216374 rs779085548 |
99 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190858109 CA359322511 |
103 | I>T | No |
ClinGen gnomAD |
|
|
CA115795133 rs1008404444 |
103 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs955542074 CA359322496 |
104 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA359322502 rs1257181655 |
104 | D>G | No |
ClinGen gnomAD |
|
|
CA359322489 rs1345943568 |
105 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190956402 CA359322441 |
109 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3216371 rs778294609 |
111 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 112 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359322390 rs1277670778 |
113 | A>S | No |
ClinGen gnomAD |
|
|
CA115795102 rs752996174 |
114 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1695519 CA3216368 rs528896037 |
120 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1477133135 CA359322280 |
122 | S>P | No |
ClinGen gnomAD |
|
|
rs1362006005 CA359322271 |
123 | L>Q | No |
ClinGen gnomAD |
|
|
CA3216367 rs759935703 |
123 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA359322264 rs1248646091 |
124 | Y>H | No |
ClinGen gnomAD |
|
|
rs761464441 CA3216364 |
125 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3216365 rs761464441 |
125 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776212558 CA3216363 |
127 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3216362 rs367589604 |
127 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359322169 rs1333315982 |
132 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772067435 CA3216359 |
134 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1484820554 CA359322147 |
134 | K>T | No |
ClinGen gnomAD |
|
|
rs999748155 CA115795053 |
136 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 136 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579448813 CA359322128 |
136 | G>R | No |
ClinGen Ensembl |
|
|
rs150604531 CA359322116 |
137 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150604531 COSM1067174 CA3216355 |
137 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3216356 rs138749280 COSM343708 |
137 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359322108 rs1231214732 |
138 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359322075 rs1342064758 |
141 | P>A | No |
ClinGen gnomAD |
|
|
rs778204468 CA3216354 |
141 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359322074 rs1342064758 |
141 | P>S | No |
ClinGen gnomAD |
|
|
CA359322059 rs1342944428 |
142 | E>V | No |
ClinGen gnomAD |
|
|
CA3216351 rs558544451 COSM1200508 |
143 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs1380701691 CA359322035 |
144 | E>D | No |
ClinGen TOPMed |
|
|
CA359322042 rs1419138258 |
144 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA359322030 TCGA novel rs1164728216 |
145 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA3216350 rs755543269 |
146 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359322006 rs1160748761 COSM1543350 |
147 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1426108888 CA359321917 |
154 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763849002 CA3216345 |
159 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA359321835 rs1211634321 |
160 | T>R | No |
ClinGen gnomAD |
|
|
CA115794965 rs751835931 |
161 | K>E | No |
ClinGen TOPMed |
|
|
CA359321818 rs1369335901 |
162 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA359321820 rs1217813170 |
162 | D>G | No |
ClinGen gnomAD |
|
|
rs1278548828 CA359321805 |
164 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | T>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359321786 rs1359344852 |
167 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359321771 rs1436556090 |
169 | P>L | No |
ClinGen gnomAD |
|
|
rs1276119336 CA359321773 |
169 | P>S | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1325799599 CA359321740 |
174 | V>I | No |
ClinGen gnomAD |
|
|
CA359321690 rs1178482472 |
175 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759558736 CA3216341 |
175 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3216320 rs759466753 |
177 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA359321669 rs1579675706 |
179 | I>L | No |
ClinGen Ensembl |
|
|
rs1305478695 CA359321665 |
179 | I>M | No |
ClinGen TOPMed |
|
|
CA359321637 rs1171767498 |
184 | T>A | No |
ClinGen gnomAD |
|
|
CA359321600 rs1176472620 |
189 | A>D | No |
ClinGen gnomAD |
|
|
CA3216317 rs372629879 COSM1436954 |
189 | A>T | large_intestine Variant assessed as Somatic; 4.637e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773374685 CA3216316 |
190 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769698597 CA3216315 |
194 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261073842 CA359321541 |
198 | V>I | No |
ClinGen gnomAD |
|
|
CA359321531 rs1454260593 |
199 | Y>C | No |
ClinGen TOPMed |
|
|
CA115787329 rs913853277 |
201 | I>V | No |
ClinGen gnomAD |
|
|
CA3216311 rs747415626 |
204 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216309 rs758928946 |
206 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746292389 CA3216308 |
209 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359321439 rs1158819339 |
213 | E>K | No |
ClinGen TOPMed |
|
|
rs1488932482 CA359321425 |
215 | G>S | No |
ClinGen gnomAD |
|
|
rs779354884 CA3216290 |
216 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200215310 CA3216291 |
216 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747657722 CA3216287 |
220 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3216284 rs751192934 |
221 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1229895019 CA359321370 |
222 | P>S | No |
ClinGen gnomAD |
|
|
CA115786788 rs371804173 |
224 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750232309 CA3216281 |
226 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3216280 rs765127921 |
230 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1326476376 CA359321311 |
230 | E>Q | No |
ClinGen gnomAD |
|
|
CA115786735 rs758905136 |
231 | Q>* | No |
ClinGen Ensembl |
|
|
rs761788673 CA359321299 CA3216279 |
231 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM184232 CA3216278 rs753887521 |
232 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764120846 CA3216277 |
234 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414379816 CA359321278 |
235 | V>I | No |
ClinGen TOPMed |
|
|
rs1190479665 CA359321268 |
236 | I>T | No |
ClinGen gnomAD |
|
|
CA359321270 rs1372129331 |
236 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434365999 CA359321248 |
239 | K>R | No |
ClinGen gnomAD |
|
|
CA359321235 rs1255495425 |
241 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359321231 rs1439887070 |
241 | M>T | No |
ClinGen Ensembl |
|
|
CA359321224 rs1194827341 |
242 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3216276 rs760898905 |
242 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1194827341 CA359321226 |
242 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1327379129 CA359321209 CA359321208 |
244 | Q>H | No |
ClinGen TOPMed |
|
|
CA3216274 rs772276850 |
247 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759858123 CA3216273 |
248 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774752049 CA3216272 |
253 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA359321134 rs1443297297 |
256 | I>S | No |
ClinGen TOPMed |
|
|
rs771361447 CA3216271 |
257 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs771361447 CA359321129 |
257 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1052455488 CA115786667 |
259 | T>I | No |
ClinGen TOPMed |
|
|
CA359321119 rs1052455488 |
259 | T>K | No |
ClinGen TOPMed |
|
|
COSM3697203 CA3216269 rs780851499 |
261 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 262 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1020765252 CA115786649 |
263 | N>H | No |
ClinGen TOPMed |
|
|
rs746507734 CA3216267 |
264 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA115786648 COSM1179135 rs753246262 |
266 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1067172 CA3216266 rs779923057 |
267 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3216265 COSM591794 rs531958842 |
267 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3216264 rs563743113 |
268 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1184475453 CA359321066 |
268 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771649672 CA3216247 |
271 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA115786601 rs1044998555 |
271 | S>R | No |
ClinGen Ensembl |
|
|
CA3216246 rs745496451 |
272 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3216245 rs183180776 |
272 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1355743507 CA359320990 |
277 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA115784728 rs866793635 |
278 | P>S | No |
ClinGen Ensembl |
|
|
CA3216240 rs752796839 |
281 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1031798308 CA115784704 |
285 | T>N | No |
ClinGen TOPMed |
|
|
rs1297442818 CA359320945 |
285 | T>S | No |
ClinGen gnomAD |
|
|
CA3216238 rs755158803 |
286 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA115784697 rs865971246 |
286 | H>Y | No |
ClinGen Ensembl |
|
|
CA359320932 rs1409947188 COSM738198 |
287 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA359320929 rs1476371730 |
287 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868652562 CA115784681 |
289 | R>K | No |
ClinGen Ensembl |
|
|
rs369996366 CA3216236 |
290 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA115784671 rs978500051 |
290 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359320915 rs369996366 |
290 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284644007 CA359320907 |
291 | K>R | No |
ClinGen TOPMed |
|
|
rs1243922347 CA359320901 |
292 | A>G | No |
ClinGen gnomAD |
|
|
rs763479481 CA3216235 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216234 rs773682031 |
293 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375710909 CA3216232 |
295 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201758024 CA359320869 |
297 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201758024 CA3216230 |
297 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466220146 CA359320863 |
298 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1367898081 CA359320858 |
299 | E>Q | No |
ClinGen gnomAD |
|
|
rs1231083351 CA359320851 |
300 | N>H | No |
ClinGen gnomAD |
|
|
rs1163327293 CA359320838 |
301 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA115784635 rs920659035 |
303 | M>L | No |
ClinGen Ensembl |
|
|
rs1187473917 CA359320826 |
303 | M>T | No |
ClinGen TOPMed |
|
|
CA3216228 rs774117507 |
304 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359320812 rs1270323543 |
305 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359320802 rs749126177 |
306 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3216226 COSM1067170 rs749126177 |
306 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 308 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427242154 CA359320786 |
309 | E>K | No |
ClinGen TOPMed |
|
|
CA3216224 rs199818706 |
310 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs943355232 CA115784593 |
310 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs144893443 CA3216222 |
314 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751587719 CA3216220 |
315 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1561189376 CA359320744 |
315 | M>T | No |
ClinGen Ensembl |
|
|
rs755145641 CA3216221 |
315 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs141440884 CA359320732 |
317 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs141440884 CA115784535 |
317 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA3216218 rs200483716 |
318 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359320700 rs1384903145 |
321 | D>E | No |
ClinGen TOPMed |
|
|
rs1195460545 CA359320707 |
321 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1013078659 CA115784534 |
322 | K>R | No |
ClinGen TOPMed |
|
|
CA359320691 rs1296574726 |
323 | D>H | No |
ClinGen TOPMed |
|
|
CA359320683 rs1468810311 |
324 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272336502 CA359320678 |
325 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359320658 rs1365603718 |
327 | G>A | No |
ClinGen TOPMed |
|
|
rs750844913 CA3216217 |
328 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035954453 CA115784522 |
330 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 332 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359320600 rs1410025646 |
334 | N>S | No |
ClinGen TOPMed |
|
|
CA115783499 rs755024913 |
336 | D>E | No |
ClinGen Ensembl |
|
|
CA3216167 RCV000906139 rs116872912 |
336 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA115783478 rs986733271 |
337 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 340 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796451473 CA115783470 |
340 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3216166 rs763734777 |
341 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953553017 CA115783464 |
341 | M>T | No |
ClinGen gnomAD |
|
|
rs760678783 CA3216165 |
342 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997592431 CA115783440 |
343 | Y>C | No |
ClinGen TOPMed |
|
|
rs1255302672 CA359320514 |
347 | V>L | No |
ClinGen gnomAD |
|
|
rs1248453186 CA359320507 |
348 | D>Y | No |
ClinGen TOPMed |
|
|
rs1355996461 CA359320491 |
350 | S>T | No |
ClinGen gnomAD |
|
|
rs1338891685 CA359320473 |
352 | T>I | No |
ClinGen TOPMed |
|
|
CA3216164 rs775630425 |
354 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1308184677 CA359320455 |
355 | D>G | No |
ClinGen gnomAD |
|
|
CA3216162 rs745991592 |
356 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3216159 rs749402733 |
357 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388189220 CA359320431 |
359 | L>S | No |
ClinGen gnomAD |
|
|
CA359320434 rs778213959 |
359 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA115783404 rs757051985 |
360 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3216157 rs756492421 |
361 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3216156 rs748540104 |
361 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1166114133 CA359320398 |
364 | F>L | No |
ClinGen gnomAD |
|
|
CA3216155 rs182057099 |
365 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1055699145 CA115783386 |
365 | K>N | No |
ClinGen Ensembl |
|
|
rs893053657 CA115783388 |
365 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 366 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359320391 rs1475478733 |
366 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 367 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755457072 CA3216154 |
367 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1397427301 CA359320382 |
367 | T>S | No |
ClinGen gnomAD |
|
|
rs1265659383 CA359320377 |
368 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1469257078 CA359320369 |
369 | V>A | No |
ClinGen TOPMed |
|
|
CA359320373 rs1197780875 |
369 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs144484970 CA3216152 |
371 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359320344 rs1408048449 |
373 | S>Y | No |
ClinGen TOPMed |
|
|
CA3216150 rs753378587 |
377 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329171440 CA359320295 |
380 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1329171440 CA359320293 |
380 | P>L | No |
ClinGen gnomAD |
|
|
rs759697917 CA3216149 |
380 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391629855 CA359320283 |
382 | V>E | No |
ClinGen gnomAD |
|
|
rs1330564567 CA359320285 |
382 | V>L | No |
ClinGen gnomAD |
|
|
CA359320272 rs760457024 |
384 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs760457024 CA3216148 |
384 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs1305717750 CA359320259 |
386 | V>I | No |
ClinGen gnomAD |
|
|
COSM3702794 CA3216146 rs767582762 |
387 | S>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA115783331 rs929731772 |
388 | Y>C | No |
ClinGen Ensembl |
|
|
rs774573447 CA3216144 |
389 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1321417795 CA359320231 |
390 | I>T | No |
ClinGen TOPMed |
|
|
rs770856982 CA3216143 |
390 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223451760 CA359320218 |
392 | V>A | No |
ClinGen TOPMed |
|
|
CA115783324 rs866200603 |
394 | E>K | No |
ClinGen Ensembl |
|
|
CA115783302 rs867611896 |
398 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs568317141 CA3216142 |
399 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359320155 rs1486705983 |
401 | I>N | No |
ClinGen gnomAD |
|
|
rs1462986830 CA359320157 |
401 | I>V | No |
ClinGen TOPMed |
|
|
CA359320147 rs1281083808 |
402 | I>T | No |
ClinGen gnomAD |
|
|
CA359320134 rs941024304 |
404 | Q>L | No |
ClinGen Ensembl |
|
|
rs941024304 CA115783294 |
404 | Q>R | No |
ClinGen Ensembl |
|
|
rs1342718122 CA359320127 |
405 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA115783291 rs909478234 |
408 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748562835 CA3216139 |
409 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1349538432 CA359320094 |
410 | P>Q | No |
ClinGen gnomAD |
|
|
rs1286045334 CA359320083 |
412 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359320085 rs1286045334 |
412 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359320074 rs866802321 |
413 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA115783283 rs546593593 |
414 | N>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA359320067 rs1431350350 |
414 | N>K | No |
ClinGen TOPMed |
|
|
rs1332866549 COSM338782 CA359320044 |
417 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 417 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 418 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914263625 CA115771785 |
419 | Y>S | No |
ClinGen TOPMed |
|
|
CA359319998 rs1226208825 |
422 | D>H | No |
ClinGen gnomAD |
|
|
CA115771777 rs957387667 |
422 | D>V | No |
ClinGen Ensembl |
|
|
CA359319991 rs555002432 |
423 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3216118 rs555002432 |
423 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3216117 rs555002432 |
423 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3216119 COSM256591 rs768954953 |
423 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1292121 rs772604317 CA3216116 |
424 | H>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 427 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216113 rs755827991 |
427 | M>T | No |
ClinGen ExAC |
|
|
CA359319956 rs1319045015 |
428 | D>E | No |
ClinGen gnomAD |
|
|
CA115771673 rs1034095488 |
428 | D>G | No |
ClinGen Ensembl |
|
|
rs866075314 CA115771665 |
429 | R>C | No |
ClinGen Ensembl |
|
|
CA3216110 rs780978039 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780978039 CA3216111 |
429 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754886766 CA3216109 |
430 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751366845 CA3216108 |
432 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA115771654 rs867376080 |
434 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 439 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980224696 CA115771648 |
440 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359319872 rs1421756694 |
441 | F>L | No |
ClinGen gnomAD |
|
|
rs1448857053 CA359319861 |
443 | L>S | No |
ClinGen gnomAD |
|
|
rs1388211643 CA359319857 |
444 | K>E | No |
ClinGen gnomAD |
|
|
CA115771644 rs142357370 |
445 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs533639381 CA3216106 |
446 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 447 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227025606 CA359319830 COSM1436949 |
448 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs148731332 CA3216105 |
448 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359319820 rs1343735024 |
449 | E>D | No |
ClinGen TOPMed |
|
|
rs1296017977 CA359319809 |
451 | S>C | No |
ClinGen gnomAD |
|
|
rs762037380 CA3216103 |
452 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1483541355 CA359319805 |
452 | P>S | No |
ClinGen TOPMed |
|
|
rs1483541355 CA359319806 |
452 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA115771594 rs751026716 |
454 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs751026716 CA3216101 |
454 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3216102 rs776900416 |
454 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216099 rs775903704 |
456 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3216098 rs772484794 |
457 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs982020288 CA115771540 |
457 | T>S | No |
ClinGen TOPMed |
|
|
rs1368728255 CA359319767 |
458 | V>A | No |
ClinGen gnomAD |
|
|
CA3216097 rs746317937 |
458 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA359319765 rs1579664371 |
459 | T>P | No |
ClinGen Ensembl |
|
|
CA359319752 rs1175469445 |
461 | T>A | No |
ClinGen gnomAD |
|
|
CA115771516 rs201441998 |
462 | E>D | No |
ClinGen Ensembl |
|
|
rs777158238 COSM449509 CA3216096 |
463 | I>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1579664017 CA359319710 |
465 | N>T | No |
ClinGen Ensembl |
|
|
CA3216077 rs77230036 |
466 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359319706 rs1269088472 |
466 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 468 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771532599 CA3216076 |
468 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1295273156 CA359319684 |
469 | S>C | No |
ClinGen gnomAD |
|
|
CA3216075 rs747707234 |
469 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA359319682 rs747707234 |
469 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3216073 rs201744234 COSM378429 |
470 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs779727633 CA3216071 |
472 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs867293517 CA115770986 |
473 | P>L | No |
ClinGen Ensembl |
|
|
rs1158073393 CA359319657 |
473 | P>T | No |
ClinGen gnomAD |
|
|
rs1238442579 CA359319649 |
474 | V>A | No |
ClinGen TOPMed |
|
|
CA3216070 rs758272419 |
475 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 480 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359319602 rs1261698412 |
481 | I>T | No |
ClinGen Ensembl |
|
|
COSM1067168 rs778867049 CA3216068 |
482 | N>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1186332080 CA359319587 |
483 | D>E | No |
ClinGen TOPMed |
|
|
CA359319589 rs1422749652 |
483 | D>G | No |
ClinGen gnomAD |
|
|
CA115770953 rs143800304 |
483 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1389150972 CA359319583 |
484 | H>Y | No |
ClinGen TOPMed |
|
|
CA3216067 rs757167156 |
485 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA359319569 rs1169939507 COSM3381234 |
486 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA359319545 rs1413865530 |
489 | A>V | No |
ClinGen TOPMed |
|
|
CA3216065 COSM387535 rs370853928 |
490 | M>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1327396528 CA359319541 |
490 | M>T | No |
ClinGen gnomAD |
|
|
rs1030145226 CA115770903 |
492 | Y>C | No |
ClinGen TOPMed |
|
|
CA359319520 rs756298690 |
493 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs756298690 CA3216064 |
493 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA115770899 rs147443121 |
495 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3216063 rs753019226 |
496 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 497 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216062 rs767626600 |
499 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs759983762 CA3216061 |
499 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3216060 rs774554589 |
500 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359319470 rs774554589 |
500 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319688258 CA359319452 |
503 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 509 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359319381 rs1385927132 |
511 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 512 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA115767370 rs968345581 |
512 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 513 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299427249 CA359319355 |
515 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359319341 rs1429804762 |
516 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3216041 rs781524377 |
518 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA359319327 rs1257661796 |
519 | R>* | No |
ClinGen gnomAD |
|
|
rs1216936998 CA359319303 |
522 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 526 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 526 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1543355 rs1448132937 CA359319265 |
527 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359319267 rs1448132937 |
527 | P>R | No |
ClinGen gnomAD |
|
|
rs755105927 CA3216040 |
527 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766784543 CA3216038 |
529 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs763567634 CA3216037 |
530 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359319242 rs1265507046 |
531 | F>S | No |
ClinGen gnomAD |
|
|
rs751031381 CA3216036 |
533 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA359319191 rs1202948043 |
539 | I>V | Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359319182 COSM379708 rs1271292917 |
540 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359319178 COSM738206 rs1256434713 |
541 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 543 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359319133 rs1199762035 |
545 | N>D | No |
ClinGen gnomAD |
|
|
rs752287412 CA3216010 |
550 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579661396 CA359319101 |
550 | M>L | No |
ClinGen Ensembl |
|
|
CA115767031 rs370038496 |
552 | R>G | No |
ClinGen Ensembl |
|
|
COSM236708 rs150128137 CA3216009 |
552 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1567723 CA115767029 rs370038496 |
552 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1255912071 CA359319045 |
558 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359319044 rs1340493492 |
558 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 560 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457198445 CA359319007 |
563 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1328850588 CA359318992 |
565 | L>S | No |
ClinGen gnomAD |
|
|
COSM184226 rs1039281244 CA115766954 |
567 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs770537311 CA3216005 |
567 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201744411 CA115766951 |
568 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs377660998 CA359318939 |
573 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377660998 CA3216001 |
573 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA115766920 COSM1685967 rs867964392 |
574 | D>N | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA115766907 rs1007187000 |
575 | Y>H | No |
ClinGen Ensembl |
|
|
rs868132240 CA115766900 |
576 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 580 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200942372 CA115766894 |
581 | T>I | No |
ClinGen gnomAD |
|
|
CA359318860 rs1249722612 |
585 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 587 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763497540 CA3215997 COSM449508 |
587 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763497540 CA3215996 |
587 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359318834 rs1561182267 |
589 | C>Y | No |
ClinGen Ensembl |
|
|
CA115766877 rs1049983109 |
590 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465472197 CA359318821 |
591 | C>Y | No |
ClinGen TOPMed |
|
|
rs1283029544 CA359318813 |
592 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779111151 CA3215993 |
592 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM139571 rs746260289 CA3215994 |
592 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746260289 CA115766858 |
592 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359318809 rs1244767592 |
593 | N>D | No |
ClinGen gnomAD |
|
|
CA359318789 rs1283680665 |
596 | N>H | No |
ClinGen TOPMed |
|
|
rs987476665 CA115766842 |
596 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3215991 rs754356776 |
597 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764653452 CA3215990 |
602 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215988 RCV000949910 rs34490509 |
603 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147997829 CA359318733 |
604 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147997829 CA3215987 |
604 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs967893158 CA115766769 |
607 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359318706 COSM70123 rs1490543922 |
609 | A>T | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
COSM1695514 CA359318701 rs1259853566 |
609 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs200287957 CA359318698 |
610 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764882241 CA359318699 |
610 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764882241 CA3215984 |
610 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200287957 CA3215983 |
610 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215982 rs776501248 |
612 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359318680 rs768684659 |
613 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215981 rs768684659 |
613 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207516509 CA359318675 |
614 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 614 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359318658 rs1364934359 |
617 | V>A | No |
ClinGen gnomAD |
|
|
rs564401936 CA3215975 |
617 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215974 rs577458372 |
618 | A>G | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 619 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350682578 CA359318637 |
621 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3215969 rs750102029 |
622 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA359318620 rs1372440494 |
624 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169145838 CA359318616 |
624 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA359318611 rs1192698031 |
625 | I>T | No |
ClinGen gnomAD |
|
|
rs764938167 CA3215967 |
625 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1340145990 CA359318605 |
626 | L>Q | No |
ClinGen TOPMed |
|
|
CA359318596 rs1245744078 |
628 | I>V | No |
ClinGen gnomAD |
|
|
CA359318562 rs1579658350 |
631 | V>E | No |
ClinGen Ensembl |
|
|
CA359318564 rs1331472431 |
631 | V>L | No |
ClinGen gnomAD |
|
|
CA3215956 rs749634049 |
632 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3215955 rs778070001 |
633 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3215954 rs770288209 |
634 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748595612 CA3215953 |
635 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs781654481 CA3215952 |
635 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757970419 CA3215951 |
637 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749919574 CA3215950 |
638 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3215948 rs140250627 |
639 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 640 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 641 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359318503 rs1416819442 |
641 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 641 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359318481 rs977700288 |
643 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 643 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215947 rs753610093 |
643 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA115762986 COSM340736 rs968943105 |
644 | P>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA115762975 rs1021835970 |
646 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA115762974 rs867946409 |
648 | S>L | No |
ClinGen Ensembl |
|
|
CA3215944 rs752744513 |
648 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759580262 CA3215942 |
649 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774437887 CA115762952 |
650 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1754238 CA115762942 rs267600596 |
651 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1286462514 CA359318408 |
655 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs763167754 CA3215939 |
656 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359318385 rs1338719800 |
659 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1284926497 CA359318350 |
663 | G>D | No |
ClinGen TOPMed |
|
|
rs908242179 CA115762935 |
664 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359318342 rs1451095462 |
665 | G>R | No |
ClinGen gnomAD |
|
|
CA115762919 rs958860809 |
667 | E>K | No |
ClinGen Ensembl |
|
|
CA359318305 rs1254001449 |
670 | Q>R | No |
ClinGen TOPMed |
|
|
CA3215936 rs540573947 |
671 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 672 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187621740 CA359318289 |
672 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 673 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244493148 CA359318287 |
673 | D>N | No |
ClinGen TOPMed |
|
|
rs557769680 CA3215934 |
674 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3215933 rs745394195 |
676 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 677 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215932 rs778449136 |
678 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs545889348 CA3215931 |
679 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359318248 rs545889348 |
679 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1462830927 CA359318240 |
680 | P>S | No |
ClinGen TOPMed |
|
|
rs1002883132 CA115762866 |
682 | A>P | No |
ClinGen Ensembl |
|
|
CA3215930 rs753475342 |
682 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs756008394 CA3215928 |
684 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215929 rs777559375 |
684 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359318196 rs1312867698 |
686 | S>R | No |
ClinGen gnomAD |
|
|
CA3215927 rs752513714 |
687 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM3702793 rs146665532 CA3215926 |
688 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs759475315 CA3215925 |
689 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs766422475 CA3215923 |
690 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215924 rs751593635 COSM1067159 |
690 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 693 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215922 rs762927737 |
694 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA115762782 rs370088766 |
695 | E>V | No |
ClinGen ESP |
|
|
CA359318138 rs1561180441 |
696 | T>A | No |
ClinGen Ensembl |
|
|
CA3215920 rs765413914 |
697 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA359318121 rs1162227079 |
698 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA115762753 rs868721239 |
699 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 699 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433106229 CA359318106 |
700 | I>M | No |
ClinGen TOPMed |
|
|
rs1297156742 CA359318098 |
702 | R>G | No |
ClinGen TOPMed |
|
|
rs776933344 COSM1067158 CA359318093 |
702 | R>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA359318076 rs1229333530 |
705 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA115762678 rs887136725 |
706 | L>P | No |
ClinGen Ensembl |
|
|
rs375707694 CA3215911 |
707 | W>G | No |
ClinGen ESP ExAC |
|
| TCGA novel | 707 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375707694 CA3215913 |
707 | W>R | No |
ClinGen ESP ExAC |
|
|
rs867901234 CA115762667 |
708 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs773750277 CA3215910 |
709 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1342778232 CA359318047 |
710 | I>V | No |
ClinGen gnomAD |
|
|
CA359318029 rs1250585725 |
712 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs113264250 CA115762654 COSM738210 |
713 | Q>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3215909 rs372250136 |
713 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359318020 rs1332556988 |
714 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3215907 rs777614561 |
715 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1322355436 CA359318010 |
715 | F>S | No |
ClinGen gnomAD |
|
|
rs148997333 CA3215906 |
717 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359317992 rs1412302190 |
718 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM258696 CA3215905 rs535692550 |
718 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215904 rs780971188 COSM1695511 |
722 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs368230951 CA3215903 |
724 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1067157 rs746982767 CA115762600 |
724 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1460812109 CA359317942 |
725 | A>G | No |
ClinGen gnomAD |
|
|
CA115762581 rs942531167 |
725 | A>T | No |
ClinGen TOPMed |
|
|
rs1477971611 CA359317937 |
726 | D>G | No |
ClinGen TOPMed |
|
|
CA359317919 rs1379698223 |
728 | S>R | No |
ClinGen gnomAD |
|
|
CA359317914 rs1177065495 |
729 | A>G | No |
ClinGen gnomAD |
|
|
rs1455715550 CA359317896 |
732 | Y>C | No |
ClinGen TOPMed |
|
|
rs1483367399 CA359317875 |
735 | L>P | No |
ClinGen gnomAD |
|
|
CA359317873 rs1249756938 |
736 | A>T | No |
ClinGen gnomAD |
|
|
CA359317862 rs1346865409 COSM1486704 |
737 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 739 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359317843 rs1320968105 |
740 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA115762542 rs149817725 |
741 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA3215897 rs371558373 |
742 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764465152 CA3215896 |
742 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs905306138 CA115762527 |
743 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA115762525 COSM107266 rs143922310 |
744 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 746 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359317805 rs1469515758 |
746 | I>T | No |
ClinGen gnomAD |
|
|
CA359317807 rs1303781721 |
746 | I>V | No |
ClinGen gnomAD |
|
|
CA359317798 rs1427430666 |
747 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359317784 COSM3615268 rs1161575895 |
749 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1363232734 CA359317771 |
751 | S>T | No |
ClinGen gnomAD |
|
|
rs1179587887 CA359317764 COSM1067154 |
752 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
TCGA novel rs772432225 CA3215893 |
753 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC |
|
rs1268278642 CA359317754 |
754 | E>Q | No |
ClinGen TOPMed |
|
|
rs1444051457 CA359317746 |
755 | S>P | No |
ClinGen gnomAD |
|
|
CA359317721 rs1202765157 |
759 | D>N | No |
ClinGen gnomAD |
|
|
rs772806219 COSM591814 CA3215891 |
760 | C>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1265662079 CA359317707 |
761 | N>D | No |
ClinGen TOPMed |
|
|
CA3215890 rs769572204 |
763 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237604882 CA359317663 |
766 | Y>* | No |
ClinGen gnomAD |
|
|
rs780694475 CA3215888 |
766 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1200693980 CA359317660 |
767 | L>F | No |
ClinGen TOPMed |
|
|
rs1012693025 CA115762417 |
768 | S>G | No |
ClinGen TOPMed |
|
|
CA359317636 rs1342748030 |
770 | W>L | Variant assessed as Somatic; 0.000278 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359317630 rs1316227999 |
771 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 772 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404310613 CA359317624 |
772 | P>S | No |
ClinGen gnomAD |
|
|
rs568693690 CA115762403 |
773 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs568693690 CA359317619 |
773 | R>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs553402369 CA3215886 |
773 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs553402369 CA115762373 |
773 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364495552 CA359317605 |
775 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 776 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384419539 CA359317598 |
776 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 778 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359317578 rs939956794 |
779 | D>G | No |
ClinGen TOPMed |
|
|
CA3215884 rs368164243 |
779 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA115762371 rs368164243 COSM184224 |
779 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA115762364 rs939956794 |
779 | D>V | No |
ClinGen TOPMed |
|
|
rs750535278 CA359317567 CA3215883 |
780 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765236056 CA3215882 |
781 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM591815 rs765236056 CA359317562 |
781 | Y>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 782 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM738212 CA3215881 rs757487434 |
782 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA359317551 rs1198330362 |
783 | G>A | No |
ClinGen gnomAD |
|
|
CA359317550 rs1198330362 |
783 | G>D | No |
ClinGen gnomAD |
|
|
rs754120657 CA3215880 |
784 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA359317547 rs1208985401 |
784 | D>N | No |
ClinGen gnomAD |
|
|
CA115762330 rs374297584 |
785 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3215879 rs374297584 |
785 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA115762316 rs920995795 |
786 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359317519 rs1490430616 |
788 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359317518 rs1245794872 |
788 | R>Q | No |
ClinGen gnomAD |
|
|
CA3215878 rs761146628 |
789 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761146628 CA359317512 |
789 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 789 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215876 rs768097027 |
790 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs768097027 CA115762297 |
790 | D>K | No |
ClinGen ExAC gnomAD |
|
|
rs768097027 CA3215877 |
790 | D>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9ULB4
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| 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. |
41 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 |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | 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 |
| P70407 | Cdh9 | Cadherin-9 | 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 |
| MRTYHYIPLF | IWTYMFHTVD | TILLQEKPNS | YLSSKKIAGL | TKDDGKMLRR | TKRGWMWNQF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLLEEYTGTD | TQYVGKLHTD | QDKGDGNLKY | ILTGDGAGSL | FVIDENTGDI | HAAKKLDREE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSLYILRAKA | IDRKTGRQVE | PESEFIIKIH | DINDNEPKFT | KDLYTASVPE | MSGVGTSVIQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTATDADDAN | YGNSAKVVYS | ILQGQPYFSV | DPESGIIKTA | LPDMSRENRE | QYQVVIQAKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MGGQMGGLSG | TTTVNITLTD | VNNNPPRFPQ | STYQFNSPES | VPLGTHLGRI | KANDPDVGEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AEMEYSIAEG | DGADMFDVIT | DKDTQEGIIT | VKQNLDFENQ | MLYTLRVDAS | NTHPDPRFLH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGPFKDTAVV | KISVEDIDEP | PVFTKVSYLI | EVDEDVKEGS | IIGQVTAYDP | DARNNLIKYS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VDRHTDMDRI | FGIHSENGSI | FTLKALDRES | SPWHNITVTA | TEINNPKQSS | HIPVFIRILD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INDHAPEFAM | YYETFVCENA | KPGQLIQTVS | VMDKDDPPRG | HKFFFEPVPE | FTLNPNFTIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DNKDNTAGIM | TRKDGYSRNK | MSTYLLPILI | FDNDYPIQSS | TGTLTIRVCA | CDNQGNMQSC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TAEALILSAG | LSTGALVAIL | LCVLILLILV | VLFAALKRQR | KKEPLIISKD | DVRDNIVTYN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DEGGGEEDTQ | AFDIGTLRNP | EAREDSKLRR | DVMPETIFQI | RRTVPLWENI | DVQDFIHRRL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KENDADPSAP | PYDSLATYAY | EGNDSIADSL | SSLESLTADC | NQDYDYLSDW | GPRFKKLADM |
| YGGDDSDRD |