P10586
Gene name |
PTPRF (LAR) |
Protein name |
Receptor-type tyrosine-protein phosphatase F |
Names |
Leukocyte common antigen related, LAR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5792 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
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
14 structures for P10586
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1LAR | X-ray | 200 A | A/B | 1333-1907 | PDB |
| 2DJU | NMR | - | A | 319-411 | PDB |
| 2DN7 | NMR | - | A | 821-914 | PDB |
| 2EDX | NMR | - | A | 596-716 | PDB |
| 2EDY | NMR | - | A | 915-1010 | PDB |
| 2YD5 | X-ray | 220 A | A | 29-231 | PDB |
| 2YD8 | X-ray | 205 A | A | 29-231 | PDB |
| 4N5U | X-ray | 146 A | A | 601-705 | PDB |
| 6KR4 | X-ray | 285 A | A/B/C/D | 1332-1907 | PDB |
| 6TPT | X-ray | 320 A | A | 512-706 | PDB |
| 6TPU | X-ray | 155 A | A/B | 513-706 | PDB |
| 6TPV | X-ray | 180 A | A/B | 319-512 | PDB |
| 6TPW | X-ray | 290 A | A | 319-706 | PDB |
| AF-P10586-F1 | Predicted | AlphaFoldDB |
1579 variants for P10586
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1131692054 RCV000144043 |
616 | V>missing | Breasts and/or nipples, aplasia or hypoplasia of, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986294 rs145235828 CA813459 |
1730 | H>Q | Breasts and/or nipples, aplasia or hypoplasia of, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA339988609 rs1284169835 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA339988623 rs1445843642 |
3 | P>L | No |
ClinGen gnomAD |
|
|
rs1212651831 CA339988627 |
4 | E>K | No |
ClinGen gnomAD |
|
|
rs766928002 CA811677 |
6 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs766928002 CA811676 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339988719 rs1379181132 |
9 | R>W | No |
ClinGen TOPMed |
|
|
CA811679 rs376974470 |
10 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA811678 rs376974470 |
10 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 14 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21653742 rs373829166 CA811681 |
15 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373829166 CA811680 |
15 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563605163 CA811683 |
16 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780606374 CA811682 |
16 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1384122242 CA339988848 |
17 | A>T | No |
ClinGen gnomAD |
|
|
CA811685 rs117228743 |
19 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339988940 rs1246885392 |
20 | M>I | No |
ClinGen TOPMed |
|
|
rs1451378674 CA339989021 |
25 | A>T | No |
ClinGen gnomAD |
|
|
CA339989048 rs1312482627 |
26 | G>D | No |
ClinGen gnomAD |
|
|
CA811687 rs142286926 |
27 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1278488146 CA339989076 |
27 | A>V | No |
ClinGen gnomAD |
|
|
rs1225917677 CA339989127 |
29 | G>V | No |
ClinGen gnomAD |
|
|
rs763748777 CA811696 |
31 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750930855 CA811697 |
35 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA811698 rs556396767 |
36 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339991887 rs1453417778 |
36 | I>T | No |
ClinGen gnomAD |
|
|
CA21660432 rs937131934 |
38 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 39 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA811699 rs780553041 |
41 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs909321178 CA21660440 |
43 | T>I | No |
ClinGen TOPMed |
|
|
rs747392641 CA811700 |
44 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1049277336 CA21660455 |
47 | G>R | No |
ClinGen gnomAD |
|
|
rs781508066 CA811702 |
50 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339992189 rs1321313292 |
51 | S>F | No |
ClinGen TOPMed |
|
|
rs748125986 CA339992223 |
52 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21660494 rs556629491 |
53 | V>E | No |
ClinGen Ensembl |
|
|
CA811704 rs576238237 |
53 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA811706 rs565068107 |
57 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs940364059 CA21660514 |
57 | T>R | No |
ClinGen Ensembl |
|
|
rs868728182 CA21660516 |
58 | G>E | No |
ClinGen Ensembl |
|
|
rs770909342 CA811707 |
60 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs774071378 CA811708 |
61 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374024117 CA811709 |
62 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160984093 CA339992559 |
63 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557695030 CA339992625 |
65 | T>K | No |
ClinGen Ensembl |
|
|
CA339992686 rs775187760 CA811711 |
67 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA811712 rs760287504 |
71 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339992930 rs1189436278 |
76 | Q>L | No |
ClinGen gnomAD |
|
|
rs367865707 CA811714 |
77 | R>H | Variant assessed as Somatic; 0.0006025 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs34596002 CA21660595 |
79 | E>K | No |
ClinGen Ensembl |
|
|
rs369031094 CA811731 |
81 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339993302 rs1346277417 |
84 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1399064221 CA339993346 |
85 | D>V | No |
ClinGen TOPMed |
|
|
CA339993364 rs1287440506 |
86 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM3728249 rs954717138 CA21660767 |
86 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA811734 rs761438626 |
91 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA811735 rs202216979 |
92 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA811737 rs752081368 |
97 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767916955 CA811738 |
97 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752081368 CA811736 |
97 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA811740 rs756266392 |
98 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA339993624 CA339993627 rs1265936350 |
98 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs371678029 CA811742 |
100 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 103 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 104 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757312037 CA811743 |
105 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs571501672 CA811745 |
106 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA811744 rs778902441 |
106 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA339993862 rs758327132 |
108 | T>I | No |
ClinGen ExAC |
|
|
CA811746 rs758327132 |
108 | T>R | No |
ClinGen ExAC |
|
|
CA21660835 rs774033930 |
110 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339994233 rs1443865876 |
121 | K>E | No |
ClinGen TOPMed |
|
|
CA811748 rs527385217 |
121 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA811750 COSM177481 rs776445536 |
126 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA811781 rs750476610 |
128 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21676532 rs981152996 |
129 | Q>E | No |
ClinGen Ensembl |
|
|
CA339999233 rs1306598175 |
129 | Q>H | No |
ClinGen gnomAD |
|
|
CA811783 rs766528777 |
131 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA811784 rs751509707 |
131 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA21676549 rs1034102532 |
132 | P>A | No |
ClinGen Ensembl |
|
|
rs755030848 CA811785 |
132 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777318046 COSM3419254 CA811789 |
138 | D>N | large_intestine Variant assessed as Somatic; 4.637e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA811791 rs770321096 |
139 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1425153166 CA339999449 |
139 | M>R | No |
ClinGen gnomAD |
|
|
CA811790 rs749022267 |
139 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA21676591 rs962585204 |
142 | Q>* | No |
ClinGen Ensembl |
|
|
CA339999608 rs1432596269 |
146 | V>A | No |
ClinGen gnomAD |
|
|
CA339999650 rs1170631763 |
149 | A>T | No |
ClinGen TOPMed |
|
|
CA21676609 rs749276357 |
150 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1359561471 CA339999704 |
152 | A>G | No |
ClinGen gnomAD |
|
|
CA811795 rs569999879 |
152 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA339999715 rs1288313499 |
153 | T>A | No |
ClinGen gnomAD |
|
|
rs374531518 CA811797 |
153 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs960194475 CA21676627 |
154 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773282232 CA811798 |
155 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA811800 rs375157244 |
158 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA811801 rs368326365 |
159 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA811803 rs370860175 |
160 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755880536 CA811805 |
165 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777667224 CA811807 |
172 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA811808 rs368692509 |
173 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756996085 CA811809 |
174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA811810 rs778340007 |
176 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1281980017 CA340000137 |
177 | P>A | No |
ClinGen gnomAD |
|
|
CA340000140 rs1353396650 |
177 | P>L | No |
ClinGen gnomAD |
|
|
CA811812 rs150660901 |
179 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340000170 rs1206019354 |
180 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748737963 CA811814 |
180 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs748737963 CA340000174 |
180 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA21676683 rs555893108 |
181 | N>D | No |
ClinGen gnomAD |
|
|
CA21676685 rs1050427151 |
181 | N>S | No |
ClinGen gnomAD |
|
|
CA811816 rs773693327 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340000200 rs1455417237 |
183 | R>C | No |
ClinGen gnomAD |
|
|
rs771288963 CA811818 |
183 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1275911329 CA340000227 |
185 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774501830 CA811819 |
188 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385310531 CA340003035 |
194 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383530919 CA340003250 |
198 | E>* | No |
ClinGen Ensembl |
|
|
CA21683799 rs139518625 |
202 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA21683788 rs139518625 |
202 | Q>E | No |
ClinGen ESP TOPMed |
|
|
CA811867 rs759104730 |
204 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA811869 rs754335848 |
206 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs757899600 CA811870 |
209 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA811872 rs750826620 |
210 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA811873 rs758657312 |
212 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340003744 rs1161939784 |
214 | G>D | No |
ClinGen gnomAD |
|
|
rs747245021 CA811875 |
215 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA340003809 COSM72349 rs906834223 |
216 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA21683873 rs906834223 |
216 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 221 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA811876 rs768752897 |
221 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21683894 rs1035295037 |
222 | N>Y | No |
ClinGen TOPMed |
|
|
rs1453668088 CA340004166 |
225 | V>L | No |
ClinGen gnomAD |
|
|
CA340004180 rs1377104184 |
226 | R>Q | No |
ClinGen gnomAD |
|
|
rs1330678973 CA339984147 |
228 | R>C | No |
ClinGen gnomAD |
|
|
CA339984154 rs1455359848 |
228 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA339984177 rs1250737549 |
229 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339984181 rs1299856963 |
230 | V>M | No |
ClinGen gnomAD |
|
|
CA339984207 rs1369116115 |
231 | A>D | No |
ClinGen gnomAD |
|
|
CA339984214 rs1468296025 |
232 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201549619 CA21644021 |
233 | R>H | No |
ClinGen gnomAD |
|
|
rs775888535 CA811951 |
235 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA21644028 rs370982565 |
237 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA21644034 rs969964085 |
240 | S>I | No |
ClinGen gnomAD |
|
|
CA339984448 rs969964085 |
240 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339984496 rs1198021971 |
241 | Q>E | No |
ClinGen TOPMed |
|
|
CA339984552 rs1450640377 |
242 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764333630 CA811953 |
247 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459942101 CA339984727 |
248 | S>N | No |
ClinGen gnomAD |
|
|
rs1167481147 CA339984765 |
249 | V>M | No |
ClinGen gnomAD |
|
|
rs753909516 CA21644051 |
251 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA811955 rs568517762 |
254 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA811956 rs765398408 |
255 | A>S | No |
ClinGen ExAC |
|
|
CA339985013 rs951731461 |
258 | A>G | No |
ClinGen Ensembl |
|
|
CA21644092 rs951731461 |
258 | A>V | No |
ClinGen Ensembl |
|
|
CA339985028 rs1322773479 |
259 | P>A | No |
ClinGen gnomAD |
|
|
rs1570367348 CA339985063 |
260 | M>L | No |
ClinGen Ensembl |
|
|
CA811959 rs368337407 |
263 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA811960 rs751403337 |
264 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA811961 rs754635285 |
266 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21644130 rs983179950 |
267 | M>L | No |
ClinGen gnomAD |
|
|
rs1302980890 CA339985381 |
268 | G>R | No |
ClinGen TOPMed |
|
|
rs142181863 CA811962 |
270 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339985562 rs1392922009 |
272 | L>F | No |
ClinGen TOPMed |
|
|
rs747883338 CA811963 |
273 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747883338 CA21644174 |
273 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA811964 rs769151984 |
274 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1454126684 CA339985731 |
277 | E>K | No |
ClinGen TOPMed |
|
|
rs746345482 CA811966 |
278 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339985855 rs1187315874 |
279 | P>S | No |
ClinGen gnomAD |
|
|
rs772578571 CA811967 |
280 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA21644180 rs764349921 |
282 | R>H | No |
ClinGen gnomAD |
|
|
rs775794645 CA21644181 |
283 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140415781 CA811969 |
284 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769061275 CA811970 |
287 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA339986236 rs1250419972 |
288 | S>N | No |
ClinGen TOPMed |
|
|
CA811971 rs776690110 |
289 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 291 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765219893 CA811973 |
291 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA811974 rs557357295 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA811975 rs762919783 |
292 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557357295 CA339986344 |
292 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA811976 rs766448564 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751350194 CA811977 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339986558 rs1269794866 |
299 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781081287 CA811979 |
303 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866203596 CA21644227 |
305 | G>D | No |
ClinGen Ensembl |
|
|
rs751608837 CA21644232 |
308 | E>K | No |
ClinGen Ensembl |
|
|
rs1200604615 CA339987006 |
310 | T>P | No |
ClinGen gnomAD |
|
|
CA339987121 rs1256050298 |
315 | V>M | No |
ClinGen gnomAD |
|
|
rs1474519709 CA339987169 |
316 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA339987185 rs1184703085 |
317 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA21645348 rs182835593 |
318 | L>P | No |
ClinGen 1000Genomes TOPMed |
|
|
CA812002 rs753539551 |
319 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756729737 CA812003 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339989311 rs756729737 |
321 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs778462451 CA812004 |
322 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA812006 rs755526598 |
325 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA812007 rs781347680 |
326 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342143736 CA339989522 |
328 | T>S | No |
ClinGen gnomAD |
|
|
CA339989529 rs1288701467 |
329 | E>Q | No |
ClinGen TOPMed |
|
|
rs748578998 CA812008 |
330 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812009 rs769856471 |
330 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570395587 CA339989610 |
331 | T>P | No |
ClinGen Ensembl |
|
|
CA339989700 rs1190811308 |
333 | T>I | No |
ClinGen gnomAD |
|
|
rs773543094 CA812010 |
335 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 336 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812011 rs749558306 |
336 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1570395690 CA339989760 |
336 | T>P | No |
ClinGen Ensembl |
|
|
CA812012 rs771125743 |
337 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771125743 CA812013 |
337 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1570395886 CA339989810 |
338 | T>I | No |
ClinGen Ensembl |
|
|
rs1351426605 CA339989860 |
340 | D>E | No |
ClinGen gnomAD |
|
|
rs1168007555 CA339989843 |
340 | D>Y | No |
ClinGen gnomAD |
|
|
rs767493242 CA812015 |
342 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1570396022 CA339989925 |
343 | N>T | No |
ClinGen Ensembl |
|
|
rs895500892 CA21645441 |
344 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs775100398 CA812016 |
344 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA339990040 rs1557787647 |
346 | P>A | No |
ClinGen Ensembl |
|
|
rs1410741955 CA339990118 |
348 | T>N | No |
ClinGen TOPMed |
|
|
rs1570396352 CA339990107 |
348 | T>P | No |
ClinGen Ensembl |
|
|
rs1292708024 CA339990154 |
349 | Y>H | No |
ClinGen gnomAD |
|
|
CA812019 rs753484573 |
349 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA339990231 rs1570396539 |
351 | G>A | No |
ClinGen Ensembl |
|
|
rs563115918 CA812021 |
353 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 354 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570396628 CA339990302 |
354 | Y>S | No |
ClinGen Ensembl |
|
|
rs143362739 CA812022 |
355 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812024 rs540408475 |
355 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs143362739 CA812023 |
355 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812026 RCV000910250 rs79621077 |
356 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA339990336 rs79621077 |
356 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368187251 CA812027 |
356 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749507478 CA812028 |
357 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812029 rs142785985 COSM1582248 |
357 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA812032 rs772095405 |
359 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339990392 rs772095405 |
359 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286468849 CA339990423 |
360 | E>D | No |
ClinGen gnomAD |
|
|
rs1557788056 CA339990403 |
360 | E>K | No |
ClinGen Ensembl |
|
|
rs781534278 CA21645476 |
361 | G>D | No |
ClinGen Ensembl |
|
|
CA812034 rs760597858 |
361 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761391796 CA812037 |
364 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331433592 CA339990550 |
365 | E>G | No |
ClinGen gnomAD |
|
|
rs1570397540 CA339990646 |
369 | V>G | No |
ClinGen Ensembl |
|
|
CA339990657 rs1379971160 |
370 | A>S | No |
ClinGen gnomAD |
|
|
CA339990670 rs1570397632 |
371 | T>P | No |
ClinGen Ensembl |
|
|
rs765844810 CA812041 |
373 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1212415516 CA339990737 |
375 | S>G | No |
ClinGen gnomAD |
|
|
CA339990769 rs1239117562 |
376 | I>V | No |
ClinGen gnomAD |
|
|
COSM681273 CA339990820 rs1186911250 |
378 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1229058695 CA339990837 |
379 | L>R | No |
ClinGen TOPMed |
|
|
CA339990864 rs1415425444 |
382 | F>S | No |
ClinGen gnomAD |
|
|
CA812045 rs756633630 |
383 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339990928 rs1557788505 |
387 | F>L | No |
ClinGen Ensembl |
|
|
rs376580480 CA812048 |
388 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779257179 CA812050 |
388 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779257179 CA812049 |
388 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571781315 CA812052 |
391 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746910917 COSM1193891 CA812053 |
391 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1279183680 CA339991018 |
393 | N>K | No |
ClinGen gnomAD |
|
|
rs776374379 CA339991033 |
394 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776374379 CA339991030 |
394 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812055 rs776374379 |
394 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812058 rs772886593 |
397 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs61733187 CA812059 |
399 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1210046572 CA339991111 |
399 | P>T | No |
ClinGen gnomAD |
|
|
CA812062 rs761196800 |
400 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812063 rs764728270 |
401 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs754204068 CA339991167 |
401 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812065 rs757666619 COSM681272 |
402 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1433610918 CA339991206 |
403 | A>S | No |
ClinGen gnomAD |
|
|
CA21645643 rs1034684585 |
404 | V>A | No |
ClinGen Ensembl |
|
|
rs760127576 CA21645654 |
405 | R>Q | No |
ClinGen Ensembl |
|
|
rs547221830 CA812067 |
405 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758562785 CA812068 |
406 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748429132 COSM1222633 CA812069 |
407 | R>C | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748429132 CA21645692 |
407 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373662568 CA812071 |
407 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748429132 CA812070 |
407 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748121483 CA812073 |
408 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347204574 CA339991340 |
410 | E>G | No |
ClinGen gnomAD |
|
|
CA812075 rs772934252 |
411 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1186829781 CA339991371 |
412 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA339991373 rs1186829781 |
412 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 412 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812076 VAR_054766 rs1065775 |
412 | A>V | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1205526671 CA339991390 |
413 | P>L | No |
ClinGen gnomAD |
|
|
rs369985213 CA21645716 |
416 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs17849128 CA21645718 |
417 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs759136731 CA812079 |
418 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs372477577 CA812080 |
418 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339991466 rs1453259016 |
419 | R>C | Variant assessed as Somatic; 8.11e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs536262487 CA812082 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs375757987 CA812084 |
420 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339991491 rs1394757550 |
421 | Q>K | No |
ClinGen gnomAD |
|
|
rs1471991235 CA339991508 |
423 | R>C | No |
ClinGen TOPMed |
|
|
CA339991517 rs1360467408 |
423 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812087 rs751831806 |
427 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751831806 CA339991563 |
427 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339991567 rs1299928013 |
427 | A>V | No |
ClinGen gnomAD |
|
|
rs1215117006 CA339991607 |
430 | M>V | No |
ClinGen TOPMed |
|
|
rs1250735663 CA339991637 |
432 | V>M | No |
ClinGen gnomAD |
|
|
rs1211482971 CA339991652 |
433 | Q>* | No |
ClinGen gnomAD |
|
|
CA21645754 rs942716991 |
433 | Q>H | No |
ClinGen gnomAD |
|
|
CA339991657 rs1292246821 |
433 | Q>R | No |
ClinGen TOPMed |
|
|
rs755017217 CA812088 |
436 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339991801 rs1570401727 |
438 | E>D | No |
ClinGen Ensembl |
|
|
rs1054446954 CA21645759 |
438 | E>G | No |
ClinGen TOPMed |
|
|
CA21645758 rs931536811 |
438 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs931536811 CA339991753 |
438 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339991835 rs1450583445 |
439 | E>D | No |
ClinGen gnomAD |
|
|
rs781314317 CA339991881 |
440 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781314317 CA812089 |
440 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339991839 rs1193066225 |
440 | P>T | No |
ClinGen gnomAD |
|
|
rs1362908192 CA339991911 |
441 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393940547 CA339991948 |
442 | G>V | No |
ClinGen gnomAD |
|
|
CA812091 rs756055613 |
444 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA339991974 rs756055613 |
444 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1004348611 CA21645762 |
445 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs887284804 CA21645761 |
445 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA339992050 rs1246641379 |
446 | G>R | No |
ClinGen gnomAD |
|
|
rs749068389 CA812093 |
448 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770566976 CA812094 |
448 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA812095 rs370471082 |
449 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204098813 CA339992215 |
450 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA812096 rs3748796 VAR_020299 |
450 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1003445552 CA21645784 |
450 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 451 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21645788 rs958996158 |
452 | T>S | No |
ClinGen Ensembl |
|
|
CA339992305 rs1426084669 |
453 | P>A | No |
ClinGen gnomAD |
|
|
CA339992327 rs1189049815 |
453 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339992411 rs1557790674 |
456 | R>C | No |
ClinGen Ensembl |
|
|
CA812098 rs775153874 |
456 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1161603881 CA339992443 |
457 | R>C | No |
ClinGen gnomAD |
|
|
CA812099 rs371589885 |
457 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371589885 CA339992451 |
457 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339992469 rs1453124855 |
458 | P>S | No |
ClinGen gnomAD |
|
|
CA812100 rs765697855 |
459 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339992510 rs1287200699 |
459 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA812102 rs763208022 |
460 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1231299958 CA339992571 |
461 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs918748407 CA21645828 |
463 | H>Y | No |
ClinGen gnomAD |
|
|
rs1289821986 CA339992700 |
464 | K>E | No |
ClinGen gnomAD |
|
|
rs934199065 CA21645830 |
465 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA812104 rs751772672 |
466 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs370654753 CA812106 |
468 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA812107 rs752774736 |
469 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21645839 rs1031553811 |
469 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA21645843 rs956070708 |
471 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA21645846 rs992617145 |
471 | L>P | No |
ClinGen TOPMed |
|
|
rs1156962444 CA339993002 |
472 | L>F | No |
ClinGen gnomAD |
|
|
CA339993030 rs1379466189 |
473 | T>M | No |
ClinGen gnomAD |
|
|
CA812113 rs150324325 |
475 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150324325 CA812112 |
475 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309628467 CA339993113 |
476 | G>D | No |
ClinGen gnomAD |
|
|
rs1412636837 CA339993084 |
476 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1490262416 CA339993205 |
479 | L>P | No |
ClinGen TOPMed |
|
|
rs573761255 CA812115 |
485 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207652998 CA339993381 |
486 | L>M | No |
ClinGen gnomAD |
|
|
rs768264448 CA812117 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA812118 rs773564240 |
487 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812120 rs771184014 |
488 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA21645937 rs930295481 |
489 | L>H | No |
ClinGen TOPMed |
|
| TCGA novel | 489 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21645946 rs946122334 |
490 | A>S | No |
ClinGen gnomAD |
|
|
CA339993494 rs946122334 |
490 | A>T | No |
ClinGen gnomAD |
|
|
CA339993503 rs1432823468 |
490 | A>V | No |
ClinGen gnomAD |
|
|
CA339993538 rs1354879374 CA339993539 |
491 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339993552 rs1296085702 |
492 | T>I | No |
ClinGen gnomAD |
|
|
CA812121 rs774708497 |
492 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375847889 CA812123 |
493 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA21645957 rs887326029 |
493 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA812125 rs760647060 COSM3689708 |
494 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA812128 rs757233751 |
496 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA812127 rs368501227 |
496 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA812130 rs750275015 |
498 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339993777 rs895065406 |
501 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs895065406 CA21646005 |
501 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA21646014 rs996952375 |
502 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA339993800 rs1188172215 |
502 | T>I | No |
ClinGen gnomAD |
|
|
rs1427684895 CA339993864 |
504 | Q>R | No |
ClinGen gnomAD |
|
|
CA339993873 rs1168074813 |
505 | V>F | No |
ClinGen gnomAD |
|
|
CA812131 rs758079244 |
507 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA339993958 rs1461665604 |
507 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA339995519 rs1570409758 |
513 | A>S | No |
ClinGen Ensembl |
|
|
CA812155 rs747721714 |
513 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339995634 rs201705061 |
516 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339995638 rs201705061 |
516 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812158 rs201705061 |
516 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373978818 CA812159 |
516 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21646278 rs369772044 |
518 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747134912 CA812161 |
519 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812163 rs778628256 |
521 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812164 rs761933943 |
522 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348588531 CA339995896 |
524 | S>W | No |
ClinGen gnomAD |
|
|
CA339995924 rs1282365635 |
525 | D>G | No |
ClinGen gnomAD |
|
|
rs1483547386 CA339995989 |
526 | T>S | No |
ClinGen TOPMed |
|
|
CA812170 rs754542750 |
529 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812171 rs368816972 |
530 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200072533 CA812172 |
531 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339996150 rs1225380934 |
532 | W>* | No |
ClinGen TOPMed |
|
|
CA812173 rs755587343 |
534 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1343911221 CA339996210 |
535 | P>L | No |
ClinGen TOPMed |
|
|
rs746359623 CA812175 |
535 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA812176 rs139284587 |
536 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1339099962 CA339996229 |
536 | P>R | No |
ClinGen Ensembl |
|
|
CA812177 rs780240989 |
537 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs914839750 CA339996243 |
537 | Q>P | No |
ClinGen gnomAD |
|
|
rs914839750 CA21646313 |
537 | Q>R | No |
ClinGen gnomAD |
|
|
rs747424443 CA812178 |
538 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA812181 rs748453373 |
539 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776883780 CA812180 |
539 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21646328 rs370784590 |
540 | I>M | No |
ClinGen ESP TOPMed |
|
|
CA812182 rs377374918 |
541 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773435037 CA812183 |
542 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA812184 rs762913708 |
542 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs932846356 CA21646339 |
544 | E>D | No |
ClinGen TOPMed |
|
|
rs200879907 CA812185 |
548 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339996492 rs200147342 |
549 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812186 rs200147342 |
549 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA339996506 rs1435718099 |
550 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339996499 rs1435718099 |
550 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs926058235 CA21646354 |
551 | E>K | No |
ClinGen TOPMed |
|
|
rs148716858 CA339996591 CA812189 |
552 | D>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs376335770 CA812190 |
553 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812191 rs763528233 |
554 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1192271277 CA339996638 |
555 | Q>R | No |
ClinGen gnomAD |
|
|
CA339996923 rs1350824421 |
557 | H>Y | No |
ClinGen gnomAD |
|
|
rs1205028109 CA339996959 |
558 | K>R | No |
ClinGen gnomAD |
|
|
CA21646717 CA339996977 rs75561307 |
559 | V>L | No |
ClinGen Ensembl |
|
|
rs756352829 CA812220 |
560 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs3748800 VAR_020300 CA812222 |
562 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA812223 rs771037116 |
563 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA812224 rs778917013 |
563 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339997139 rs771037116 |
563 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372713942 CA812225 |
564 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA812226 rs541760221 |
565 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1313265257 CA339997358 |
568 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1393907999 CA339997382 |
569 | L>Q | No |
ClinGen gnomAD |
|
|
rs201453872 CA812229 |
569 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339997425 rs373396517 |
570 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA21646808 rs373396517 |
570 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776265538 CA812230 |
573 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA812231 rs530318417 |
574 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1447021392 CA339997531 |
575 | D>H | No |
ClinGen TOPMed |
|
|
CA812233 rs772605619 |
576 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764750522 CA812232 |
576 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA21646823 rs1057374443 |
577 | L>F | No |
ClinGen Ensembl |
|
|
rs758181842 CA812234 |
577 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376375127 CA812235 |
579 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339997653 rs376375127 |
579 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812236 rs753304290 |
579 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339997736 rs1418563085 |
581 | Q>H | No |
ClinGen gnomAD |
|
|
CA812238 rs764618194 |
581 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11210882 CA21646837 |
583 | A>G | No |
ClinGen Ensembl |
|
|
CA812239 rs147188221 |
585 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA812240 rs144513069 |
585 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000899867 CA21646866 |
588 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1327156374 CA339997979 |
588 | M>V | No |
ClinGen TOPMed |
|
|
CA339998062 rs1570421590 |
590 | V>G | No |
ClinGen Ensembl |
|
|
CA21646879 rs79766207 CA812245 |
590 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs79766207 CA21646878 |
590 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812247 rs150963518 |
592 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21646896 rs1026828350 |
593 | F>L | No |
ClinGen Ensembl |
|
|
rs1373771874 CA339998114 |
593 | F>S | No |
ClinGen gnomAD |
|
|
rs951219998 CA339998123 |
594 | T>P | No |
ClinGen Ensembl |
|
|
rs951219998 CA21646904 |
594 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 596 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339998174 rs1442498608 |
597 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA812251 rs762345034 |
597 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1020428969 CA21646912 |
599 | A>T | No |
ClinGen TOPMed |
|
|
rs766024179 CA812252 |
600 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812253 rs751589837 |
600 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751589837 CA21646931 |
600 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339998236 rs1254987769 |
602 | A>T | No |
ClinGen gnomAD |
|
|
CA812254 rs761321345 |
602 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754156472 CA812256 |
603 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA812257 rs757452368 |
603 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232705923 CA340000552 |
606 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 607 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21650496 rs868510741 |
607 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340000588 rs1217817504 |
608 | A>P | No |
ClinGen gnomAD |
|
|
CA340000586 rs1217817504 |
608 | A>T | No |
ClinGen gnomAD |
|
|
rs1242703150 CA340000636 |
609 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340000733 rs1475349786 |
611 | Q>H | No |
ClinGen gnomAD |
|
|
rs1259101040 CA340000718 |
611 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1180724695 CA340000763 |
612 | K>R | No |
ClinGen gnomAD |
|
|
CA340000795 rs1570482151 |
613 | V>G | No |
ClinGen Ensembl |
|
|
CA21650539 rs369236165 CA21650530 |
614 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1363468504 CA340000808 |
614 | M>T | No |
ClinGen TOPMed |
|
|
rs1387881232 CA340000841 |
615 | C>F | No |
ClinGen TOPMed |
|
|
rs1160451856 CA340000869 |
616 | V>A | No |
ClinGen gnomAD |
|
|
CA812295 rs745350125 |
619 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340001010 rs1265743877 |
622 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1447541618 CA340001026 |
623 | V>A | No |
ClinGen gnomAD |
|
|
rs1356278983 CA340001018 |
623 | V>I | No |
ClinGen gnomAD |
|
|
rs771749077 CA812296 |
624 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340001055 rs1570482815 |
625 | V>G | No |
ClinGen Ensembl |
|
|
rs1224465661 CA340001042 |
625 | V>I | No |
ClinGen gnomAD |
|
|
rs1284800093 CA340001064 |
626 | S>N | No |
ClinGen gnomAD |
|
|
CA812299 rs769997975 |
629 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340001131 rs769997975 |
629 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812301 rs763125381 |
630 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 630 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340002054 rs1235438684 |
632 | A>T | No |
ClinGen gnomAD |
|
|
CA340002103 rs1380180843 |
633 | D>A | No |
ClinGen gnomAD |
|
|
CA812305 rs767699823 |
633 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17849101 CA812307 RCV000907090 |
635 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA812308 rs777362958 |
635 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA812309 rs777362958 |
635 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 637 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340002250 rs1332425527 |
637 | G>S | No |
ClinGen gnomAD |
|
|
CA812311 rs369453577 |
638 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812312 rs745583010 |
643 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA812315 rs748539042 COSM1290203 |
644 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340002581 rs1199674135 |
646 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs770367017 CA812316 |
647 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204546117 CA340002639 |
648 | A>S | No |
ClinGen gnomAD |
|
|
CA812318 rs749626324 |
648 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA340002681 rs1570484204 |
649 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 649 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404810618 CA340002658 |
649 | V>M | No |
ClinGen TOPMed |
|
|
CA812321 rs759809563 |
651 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA812323 rs775642004 |
652 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410767912 CA340002800 |
653 | D>G | No |
ClinGen gnomAD |
|
|
CA21652207 rs572442326 |
654 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA812325 rs764113767 |
654 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs572442326 CA812324 |
654 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1331614439 CA340002848 |
655 | G>E | No |
ClinGen gnomAD |
|
|
rs757114527 CA812327 |
655 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331614439 CA340002851 |
655 | G>V | No |
ClinGen gnomAD |
|
|
rs985815285 CA340002857 |
656 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340002873 rs1341268386 |
656 | R>Q | No |
ClinGen gnomAD |
|
|
rs985815285 CA21652260 |
656 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs758076346 CA340002964 |
658 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758076346 CA812330 |
658 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA340002943 rs1218826343 |
658 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1215039768 CA340002972 |
659 | V>M | No |
ClinGen gnomAD |
|
|
rs1254105738 CA340003023 |
661 | G>S | No |
ClinGen gnomAD |
|
|
CA340003043 rs1451571570 |
662 | I>V | No |
ClinGen gnomAD |
|
|
rs779393774 CA21652263 |
664 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340003179 rs1253367699 |
664 | R>H | No |
ClinGen TOPMed |
|
|
rs779393774 CA812331 |
664 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21652265 rs951017386 |
665 | E>Q | No |
ClinGen Ensembl |
|
|
CA21652290 rs865931555 |
668 | S>R | No |
ClinGen Ensembl |
|
|
CA21652279 rs1054668971 |
668 | S>T | No |
ClinGen TOPMed |
|
|
CA812333 rs17849102 |
670 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1463018567 CA340003507 |
672 | V>L | No |
ClinGen gnomAD |
|
|
rs555258971 CA812335 |
675 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1386119775 CA340003763 |
678 | T>M | No |
ClinGen gnomAD |
|
|
CA340003776 rs1327972182 |
679 | E>K | No |
ClinGen gnomAD |
|
|
rs1327972182 CA340003787 |
679 | E>Q | No |
ClinGen gnomAD |
|
|
CA812336 rs771269220 |
681 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21652301 rs912268666 |
681 | R>W | No |
ClinGen gnomAD |
|
|
rs746021731 CA812338 |
682 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261619328 COSM1342893 COSM40517 CA340003977 |
683 | W>* | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA340004013 rs1223464697 |
684 | V>G | No |
ClinGen TOPMed |
|
|
CA812340 rs775382791 |
685 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144665293 CA812339 |
685 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812341 rs760786106 |
687 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs201745531 CA340004175 |
689 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201745531 CA812342 |
689 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 690 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812344 rs761857102 |
690 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1456513017 CA340004229 |
691 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 691 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387060597 CA340004236 |
692 | P>A | No |
ClinGen gnomAD |
|
|
rs1297394345 CA340004248 |
693 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 694 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416223281 CA340004285 |
695 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1416223281 CA340004287 |
695 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs894516328 CA21652374 |
697 | S>N | No |
ClinGen TOPMed |
|
|
CA21652382 rs1006220911 |
698 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340004407 rs1339361196 |
698 | P>S | No |
ClinGen gnomAD |
|
|
rs1267826004 CA340004422 |
699 | V>M | No |
ClinGen gnomAD |
|
|
CA340004481 rs1216281893 |
701 | V>L | No |
ClinGen gnomAD |
|
|
rs1216281893 CA340004473 |
701 | V>M | No |
ClinGen gnomAD |
|
|
rs1284292923 CA340004507 |
702 | R>C | No |
ClinGen gnomAD |
|
|
CA340004511 rs1486879479 |
702 | R>H | No |
ClinGen gnomAD |
|
|
CA340004582 rs1422069418 |
704 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA812348 rs766035780 |
704 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21652400 rs766035780 |
704 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 705 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340004682 rs1365430574 |
707 | V>M | No |
ClinGen gnomAD |
|
|
CA812368 rs759127729 |
708 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757714695 CA21652948 |
710 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812371 rs757714695 |
710 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340004936 rs1308563374 |
713 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340005021 rs1266369144 |
717 | V>G | No |
ClinGen gnomAD |
|
|
CA812375 rs780294143 |
717 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172354507 CA340005053 |
719 | P>T | No |
ClinGen gnomAD |
|
|
CA340005090 rs1570496457 |
721 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 724 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464586379 CA340005157 |
726 | H>R | No |
ClinGen gnomAD |
|
|
rs1167949818 CA340005163 |
727 | V>I | No |
ClinGen gnomAD |
|
|
CA340005177 rs1361334730 |
728 | Y>H | No |
ClinGen gnomAD |
|
|
rs1352078594 CA340005182 |
728 | Y>S | No |
ClinGen gnomAD |
|
|
rs769029754 CA812377 |
731 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA812379 rs564141034 |
733 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384334912 CA340005288 |
735 | S>N | No |
ClinGen gnomAD |
|
|
CA340005370 rs1404378647 |
740 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 742 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340005411 rs1202842302 |
743 | G>R | No |
ClinGen gnomAD |
|
|
rs762860244 CA340005456 |
745 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA340005452 rs1216822839 |
745 | Q>L | No |
ClinGen gnomAD |
|
|
CA340005470 rs1570497377 |
746 | V>G | No |
ClinGen Ensembl |
|
|
rs770705836 CA812383 |
746 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774023984 CA812384 |
747 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA812387 rs201048136 CA812388 |
749 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201048136 CA812386 |
749 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752038331 CA812389 |
750 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149070360 CA812390 |
752 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201114915 CA812392 |
755 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751890381 CA812393 |
756 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812394 rs755439618 |
757 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005618 rs1252295013 |
757 | R>H | No |
ClinGen TOPMed |
|
|
CA340005643 rs1193658685 |
759 | L>F | No |
ClinGen TOPMed |
|
|
CA812396 rs781530130 |
760 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA812397 rs370187541 |
760 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812395 rs781530130 |
760 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749186153 CA812399 |
761 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA812398 rs373814583 |
761 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812400 rs770807749 |
762 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812401 rs770807749 |
762 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005748 rs1326333643 |
764 | D>G | No |
ClinGen TOPMed |
|
|
rs377483278 CA812403 |
765 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775119587 CA812405 |
766 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs775119587 CA812404 |
766 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340005812 rs1319886203 |
767 | L>V | No |
ClinGen gnomAD |
|
|
CA812406 rs763592362 |
768 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs763465884 CA812408 |
769 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005894 rs752144648 |
770 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766771427 CA812409 |
770 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005887 rs766771427 |
770 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812410 rs752144648 |
770 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812431 rs760137603 |
773 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812430 rs774981977 |
773 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340008554 rs1331891918 |
775 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1687590 CA812432 rs767930658 |
777 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340008593 rs1312803474 |
778 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340008594 rs1312803474 |
778 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340008619 rs1255710727 |
779 | D>V | No |
ClinGen TOPMed |
|
|
CA340008630 rs1276421514 |
780 | Y>H | No |
ClinGen gnomAD |
|
|
rs750523020 CA812457 |
781 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370538618 CA812458 |
782 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812459 rs779932793 |
782 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA812460 rs751561553 |
783 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA21656290 rs201466491 |
784 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs754712346 CA812461 |
785 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777222498 CA812462 |
785 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747692299 CA812464 |
786 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 786 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812463 rs747692299 |
786 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400192914 CA340008842 |
788 | T>A | No |
ClinGen gnomAD |
|
|
CA812465 rs777372045 |
788 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400192914 CA340008844 |
788 | T>P | No |
ClinGen gnomAD |
|
|
CA21656334 rs1043165223 |
789 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1187179916 CA340008856 |
789 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1043165223 CA340008854 |
789 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA812467 rs746393821 |
790 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340008909 rs1570552385 |
793 | Y>S | No |
ClinGen Ensembl |
|
|
CA340008928 COSM1667506 rs1396097094 |
794 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs572629636 CA812470 |
795 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1581560 rs572629636 CA812471 |
795 | V>I | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557827258 CA340008983 |
801 | T>A | No |
ClinGen Ensembl |
|
|
rs200312726 CA812472 |
802 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 805 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216144298 CA340009023 |
807 | A>S | No |
ClinGen gnomAD |
|
|
rs1425563157 CA340009029 |
808 | R>C | No |
ClinGen gnomAD |
|
|
rs773461058 CA812474 |
808 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 809 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763012613 CA812475 COSM4143990 |
810 | K>R | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766501071 CA812476 |
811 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA340009072 rs766501071 |
811 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA812478 rs754943489 |
813 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812477 rs751390769 |
813 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455058213 CA340009104 |
814 | V>I | No |
ClinGen TOPMed |
|
|
CA340009158 rs1420141737 |
818 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 820 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812503 rs756975863 |
823 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs565543436 CA812505 |
823 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565543436 CA812504 COSM3805337 |
823 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA21656522 rs756975863 |
823 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1378330342 CA340009287 |
824 | P>S | No |
ClinGen gnomAD |
|
|
CA812506 rs757885367 |
825 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs912770030 CA21656525 |
826 | M>V | No |
ClinGen TOPMed |
|
|
rs781719563 CA812507 |
830 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781719563 CA340009422 |
830 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs367652888 CA812509 |
831 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs928654396 CA21656540 |
832 | A>T | No |
ClinGen TOPMed |
|
|
CA812514 rs759632662 |
833 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA812511 rs749468850 |
833 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA812513 rs774490865 |
833 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812512 rs749468850 |
833 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA812515 rs772113752 |
835 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA340009570 rs775486548 |
836 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775486548 CA812516 |
836 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763916687 CA812518 |
838 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400453918 CA340009637 |
839 | Q>R | No |
ClinGen gnomAD |
|
|
CA340009706 rs1465532015 |
842 | P>S | No |
ClinGen gnomAD |
|
|
rs761748789 CA812520 |
844 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757908835 CA812523 |
849 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA340009825 rs1343911174 |
849 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340009854 rs1258769633 |
850 | L>P | No |
ClinGen gnomAD |
|
|
CA812524 rs140594531 |
854 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317417745 CA340009908 |
854 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1308478616 CA340009920 |
856 | Q>R | No |
ClinGen TOPMed |
|
|
CA340009936 rs1570555758 |
857 | Y>D | No |
ClinGen Ensembl |
|
|
CA812526 rs756642128 |
858 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812529 rs567638313 |
859 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA812528 rs567638313 |
859 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21656675 rs567638313 |
859 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21656661 rs903248544 |
859 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA812531 rs779194364 |
860 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA812530 rs779194364 |
860 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340010012 rs1168878964 |
861 | D>E | No |
ClinGen gnomAD |
|
|
rs775437828 CA812533 |
861 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs536681179 COSM909871 CA812534 |
862 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs144536559 CA812535 |
863 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764998994 CA812538 |
864 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812537 rs761693767 |
864 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750031933 CA812539 |
866 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339921157 CA340010103 |
867 | T>A | No |
ClinGen gnomAD |
|
|
CA812540 rs556307288 |
867 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141782417 CA812541 |
868 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199942675 CA21656766 |
869 | D>E | No |
ClinGen 1000Genomes |
|
|
CA340010138 rs1253788010 |
869 | D>G | No |
ClinGen TOPMed |
|
|
rs751089120 CA812542 |
869 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 869 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778225680 CA812544 |
871 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs569510577 CA21656797 |
872 | K>R | No |
ClinGen Ensembl |
|
|
CA812547 rs374488420 |
873 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374488420 CA812548 |
873 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812546 rs757630823 |
873 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758580532 CA812549 |
874 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780471380 CA812550 |
874 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812552 rs768921761 |
875 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776694646 CA812553 |
879 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748106240 CA812554 |
880 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs143833153 CA812556 |
881 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340010396 rs1380026703 |
883 | H>Q | No |
ClinGen gnomAD |
|
|
rs762614069 CA812557 |
883 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340010417 rs1396031076 |
884 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1386301338 CA340010425 |
885 | G>W | No |
ClinGen TOPMed |
|
|
rs1228814877 CA340010435 |
886 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765928388 CA812558 |
887 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1570557821 CA340010449 |
888 | Y>C | No |
ClinGen Ensembl |
|
|
CA340010466 rs1275615193 |
889 | I>T | No |
ClinGen Ensembl |
|
|
rs759047074 CA812560 |
889 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA340010492 rs767075536 |
891 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199570599 CA812563 |
891 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812562 rs199570599 |
891 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812561 rs767075536 COSM426315 |
891 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs975633818 CA21656871 |
894 | A>D | No |
ClinGen Ensembl |
|
|
CA812564 rs765598646 |
894 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1186558185 CA340010590 COSM76120 |
896 | N>K | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA21656881 rs374013593 |
897 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812566 rs149018733 COSM1639895 |
897 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA812565 rs374013593 |
897 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340010603 rs1183508834 |
898 | A>T | No |
ClinGen gnomAD |
|
|
rs780417996 CA812567 |
899 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340010639 rs747292574 |
900 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1215219655 CA340010648 |
900 | L>W | No |
ClinGen TOPMed |
|
|
CA21656919 rs921513300 |
901 | G>S | No |
ClinGen gnomAD |
|
|
rs1399141346 CA340010675 |
902 | E>Q | No |
ClinGen gnomAD |
|
|
CA21656927 CA812571 rs146318210 |
904 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143093912 CA812572 |
905 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340010737 rs143093912 |
905 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1452022275 CA340010759 |
906 | K>T | No |
ClinGen gnomAD |
|
|
CA812573 rs773247312 |
907 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 907 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 910 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770780891 CA812575 |
912 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA21656973 rs138034295 |
912 | E>K | No |
ClinGen ESP |
|
|
CA340010862 rs1570559024 |
913 | D>A | No |
ClinGen Ensembl |
|
|
CA340010874 rs1327537333 |
914 | L>M | No |
ClinGen TOPMed |
|
|
rs934709458 CA21656984 |
914 | L>P | No |
ClinGen Ensembl |
|
|
CA340010935 rs1372400634 |
917 | G>S | No |
ClinGen gnomAD |
|
|
CA340010948 rs1570559229 |
918 | F>L | No |
ClinGen Ensembl |
|
|
rs1221716037 CA340010954 |
918 | F>Y | No |
ClinGen gnomAD |
|
|
rs759204249 CA340010990 |
920 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759204249 CA812577 |
920 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201215550 CA21656994 |
923 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340011075 rs1202491441 |
925 | T>S | No |
ClinGen gnomAD |
|
|
CA812579 rs371676929 |
929 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340011221 rs1162437393 |
934 | L>P | No |
ClinGen TOPMed |
|
|
rs765630159 CA812581 |
935 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758676706 CA812583 |
937 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200617199 CA812584 |
938 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374746151 CA340011290 |
938 | P>T | No |
ClinGen TOPMed |
|
|
rs200457473 CA21657016 |
941 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000953642 CA812587 rs144156070 |
942 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368237069 CA340012470 |
945 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340012477 rs1439775308 |
946 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs372831256 CA812590 |
947 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM267285 rs749309238 CA812591 |
947 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs749309238 CA812593 |
947 | R>L | No |
ClinGen ExAC TOPMed |
|
|
rs770658279 CA812594 |
949 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319465451 CA340012549 |
950 | S>G | No |
ClinGen gnomAD |
|
|
rs1319465451 CA340012554 COSM3735353 |
950 | S>R | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs377187728 CA812595 |
950 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812597 rs531936522 COSM1687591 |
952 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA340012584 rs1570560625 |
952 | T>P | No |
ClinGen Ensembl |
|
|
rs763045167 CA812599 COSM909873 |
953 | V>M | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA340012632 rs1570560846 |
954 | V>G | No |
ClinGen Ensembl |
|
|
CA812601 rs773533532 |
954 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA21657135 rs975560273 |
955 | F>L | No |
ClinGen Ensembl |
|
|
CA340012665 rs141556963 |
956 | R>L | No |
ClinGen ESP TOPMed |
|
|
CA21657140 rs141556963 |
956 | R>Q | No |
ClinGen ESP TOPMed |
|
|
rs967562018 CA21657145 |
957 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA812602 rs763519084 |
958 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340012722 rs1168370988 |
959 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340012720 rs1168370988 |
959 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766805311 CA812603 |
962 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1407965948 CA340012774 |
962 | Q>R | No |
ClinGen gnomAD |
|
|
rs760025156 CA812605 |
963 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812604 rs751990346 |
963 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 963 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557830376 CA340012817 |
965 | Q>K | No |
ClinGen Ensembl |
|
|
rs767813886 CA812606 |
968 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA812608 rs559214265 |
969 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230582995 CA340012932 |
970 | D>E | No |
ClinGen gnomAD |
|
|
rs150944733 CA812609 |
972 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753655848 CA812610 |
972 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753655848 CA340012954 |
972 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812611 rs369570389 |
977 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778630314 CA812612 |
981 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 981 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942033991 CA21657183 |
982 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 982 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771919313 CA812614 |
983 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771919313 CA340013107 |
983 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812616 rs150026558 |
985 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812617 rs150026558 |
985 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 985 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812618 rs776232578 |
986 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs763500218 CA812619 |
987 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA340013186 COSM212227 rs1382248110 |
989 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA812620 rs548061948 |
989 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340013181 rs1382248110 |
989 | R>S | No |
ClinGen gnomAD |
|
|
CA340013200 rs759978013 |
990 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812622 rs759978013 |
990 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316424363 CA340013253 |
993 | S>R | No |
ClinGen gnomAD |
|
|
rs767986292 CA812623 |
995 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA340013313 rs142730107 |
996 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA812624 rs142730107 |
996 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA21657266 rs926458641 |
997 | G>V | No |
ClinGen Ensembl |
|
|
CA340013328 rs1336043622 |
998 | P>A | No |
ClinGen TOPMed |
|
|
CA812625 rs760959754 |
1001 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1204814396 CA340013376 |
1002 | S>G | No |
ClinGen gnomAD |
|
|
rs372819126 CA812627 |
1006 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA812626 rs764041935 |
1006 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812629 rs765129553 |
1009 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA21657301 rs890253672 COSM3400814 |
1009 | P>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340013475 rs890253672 |
1009 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758129822 CA340013484 |
1010 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812631 rs758129822 |
1010 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1015 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340013626 rs1557832814 |
1015 | A>T | No |
ClinGen Ensembl |
|
|
CA812663 rs776774997 |
1016 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA812664 rs373189867 |
1016 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479176471 CA340013683 |
1019 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA812665 COSM1639896 rs376126555 |
1019 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA340013685 rs1479176471 |
1019 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA812669 rs147874335 |
1021 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340013711 rs1296789107 |
1021 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1321047 rs147874335 CA812668 |
1021 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 1024 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767435818 CA812671 |
1024 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236358043 CA340013777 |
1025 | K>N | No |
ClinGen gnomAD |
|
|
rs752333602 CA812672 |
1026 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21657931 rs752333602 |
1026 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340013874 rs753377322 |
1033 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753377322 CA812675 |
1033 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340013898 rs1203710565 |
1034 | V>A | No |
ClinGen TOPMed |
|
|
rs1226668425 CA340013893 |
1034 | V>F | No |
ClinGen gnomAD |
|
|
CA812677 rs780607373 |
1036 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs932626438 CA21657975 |
1037 | S>P | No |
ClinGen Ensembl |
|
|
CA812679 rs768996333 |
1038 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489613514 CA340013929 |
1038 | Y>N | No |
ClinGen gnomAD |
|
|
CA340013956 rs1428406780 |
1041 | A>S | No |
ClinGen gnomAD |
|
|
CA340013961 rs1169040424 |
1041 | A>V | No |
ClinGen gnomAD |
|
|
rs1387459525 CA340013976 |
1043 | P>S | No |
ClinGen gnomAD |
|
|
rs996563431 CA21658286 |
1047 | L>V | No |
ClinGen TOPMed |
|
|
CA812705 rs749482455 |
1049 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA340014190 rs1336067113 |
1050 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340014183 rs1470249056 |
1050 | G>R | No |
ClinGen gnomAD |
|
|
rs774328700 CA812707 |
1051 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226243678 CA340014250 COSM909875 |
1053 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1570576124 CA340014291 |
1055 | V>G | No |
ClinGen Ensembl |
|
|
CA812709 rs372260512 |
1055 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340014280 rs372260512 |
1055 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775609904 CA812710 |
1056 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA812713 rs776291761 |
1057 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764039671 CA812712 |
1057 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA812714 rs761400999 |
1059 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1570576425 CA340014375 |
1060 | M>I | No |
ClinGen Ensembl |
|
|
CA340014357 rs1479762337 |
1060 | M>V | No |
ClinGen gnomAD |
|
|
CA812718 rs562011415 |
1061 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1602443 rs571838340 CA812716 |
1061 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA812719 rs185189309 |
1062 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21658317 rs937549257 |
1064 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA812722 rs749489783 |
1065 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA812724 rs138775864 |
1068 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1345537230 CA340014534 |
1071 | T>A | No |
ClinGen gnomAD |
|
|
CA340014537 rs1222402946 |
1071 | T>R | No |
ClinGen gnomAD |
|
|
rs201157421 CA340014540 |
1072 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812725 rs201157421 |
1072 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340014543 rs1309209393 |
1072 | E>V | No |
ClinGen TOPMed |
|
|
CA812726 rs772345902 |
1074 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA812728 rs746959174 |
1076 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA340014578 rs1269874113 |
1078 | M>V | No |
ClinGen gnomAD |
|
|
CA812730 rs776311252 |
1080 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340014596 COSM1263473 rs1169752499 |
1080 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA21658375 rs1004871676 |
1081 | G>D | No |
ClinGen Ensembl |
|
|
CA812731 rs761716835 |
1082 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812732 rs764765679 |
1083 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446354822 CA340014634 |
1086 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA812735 rs374873502 |
1094 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1427598531 CA340014683 |
1094 | R>H | No |
ClinGen gnomAD |
|
|
rs1427598531 CA340014685 |
1094 | R>L | No |
ClinGen gnomAD |
|
|
rs374873502 CA340014681 |
1094 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365828057 CA340014697 |
1096 | A>V | No |
ClinGen gnomAD |
|
|
CA21658428 rs1052391678 |
1098 | D>A | No |
ClinGen gnomAD |
|
|
CA812736 rs369561113 |
1098 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1098 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270142418 CA340014726 |
1101 | P>L | No |
ClinGen gnomAD |
|
|
rs1292713576 CA340014732 |
1102 | H>Q | No |
ClinGen gnomAD |
|
|
CA21658450 rs908069420 |
1102 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340014729 rs1340394688 COSM1296474 |
1102 | H>Y | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756648293 CA812738 |
1104 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21658493 rs556597635 |
1106 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1040485073 CA21658495 |
1106 | P>H | No |
ClinGen TOPMed |
|
|
CA340014767 rs1193744322 |
1108 | S>F | No |
ClinGen gnomAD |
|
|
rs1241454644 CA340014768 |
1109 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs922030109 CA21658497 |
1110 | Y>C | No |
ClinGen TOPMed |
|
|
CA812741 rs754133916 |
1111 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466581866 CA340014799 |
1113 | D>G | No |
ClinGen TOPMed |
|
|
rs1470313594 CA340014807 |
1114 | G>D | No |
ClinGen gnomAD |
|
|
CA812744 rs746151545 |
1114 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758496561 CA812745 |
1115 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780287442 CA812746 |
1115 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372991117 COSM909877 CA812748 |
1117 | D>N | endometrium Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340014821 rs372991117 |
1117 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147294972 CA812750 |
1120 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147294972 CA812751 |
1120 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340014847 rs1249672058 |
1121 | P>S | No |
ClinGen TOPMed |
|
|
CA340014854 rs1316134423 |
1122 | H>Y | No |
ClinGen gnomAD |
|
|
rs1052346675 CA340014860 |
1123 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1052346675 CA21658549 |
1123 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762596997 CA340014871 |
1124 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs144922906 CA812756 |
1127 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754439849 CA812758 |
1128 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762075103 CA812759 |
1128 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433877718 CA340014908 |
1129 | V>I | No |
ClinGen gnomAD |
|
|
CA340014972 rs1177703423 |
1131 | W>R | No |
ClinGen gnomAD |
|
|
CA812785 rs754954516 |
1132 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA21658897 rs751794621 |
1135 | V>A | No |
ClinGen TOPMed |
|
|
rs1449609779 CA340015047 |
1137 | V>A | No |
ClinGen gnomAD |
|
|
rs1300227430 CA340015041 |
1137 | V>L | No |
ClinGen gnomAD |
|
|
CA340015040 rs1300227430 |
1137 | V>M | No |
ClinGen gnomAD |
|
|
CA812790 rs749053302 |
1139 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA812791 rs749053302 |
1139 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA812792 CA340015082 rs778528006 |
1140 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs367745532 CA812793 |
1141 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568722457 CA812794 |
1141 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568722457 CA21658968 |
1141 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812798 rs781399271 |
1144 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM3718377 CA812797 rs182011131 |
1144 | G>R | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1293888921 CA340015125 |
1145 | S>G | No |
ClinGen TOPMed |
|
|
rs368161767 CA812800 |
1146 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1147 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA812801 rs774648724 |
1148 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1199546067 CA340015163 |
1148 | T>S | No |
ClinGen gnomAD |
|
|
CA812803 rs767444947 |
1149 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs935298487 CA21659050 |
1150 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340015186 rs1373936203 |
1150 | R>S | No |
ClinGen gnomAD |
|
|
CA340015188 rs1429515335 |
1151 | W>R | No |
ClinGen gnomAD |
|
|
CA812804 rs752802502 |
1152 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA812805 rs756190030 |
1153 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA340015221 rs1405832871 |
1154 | P>A | No |
ClinGen gnomAD |
|
|
rs764015900 CA812806 |
1154 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA812810 rs745474278 |
1155 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs199816949 CA812809 |
1155 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340015246 rs1427552012 |
1156 | E>G | No |
ClinGen TOPMed |
|
|
rs1570582210 CA340015253 |
1157 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 1159 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340015280 rs779610758 |
1159 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779610758 CA812812 |
1159 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780748743 CA21659172 |
1160 | D>N | No |
ClinGen gnomAD |
|
|
rs550783962 CA812814 |
1161 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340016406 rs1183169145 |
1165 | A>T | No |
ClinGen gnomAD |
|
|
CA812840 rs768685317 |
1166 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812842 rs761933077 |
1167 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812841 rs373597673 |
1167 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373597673 CA340016428 |
1167 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340016432 rs1209891475 |
1167 | E>V | No |
ClinGen gnomAD |
|
|
rs765214291 CA340016463 |
1168 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812844 rs750382273 |
1169 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812846 rs766088168 |
1170 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs540407495 CA812847 |
1171 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469140370 CA340016521 |
1172 | E>G | No |
ClinGen TOPMed |
|
|
CA340016534 rs754700311 |
1173 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA812850 rs754700311 |
1173 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA812853 rs1041522982 |
1173 | Q>R | No |
ClinGen TOPMed |
|
|
COSM3671770 rs377569778 CA812857 |
1174 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA812856 rs549143666 |
1174 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200483026 CA812859 |
1175 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA812858 rs755754272 |
1175 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772418794 CA812861 |
1176 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368885602 CA812860 |
1176 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs202117609 CA812863 |
1177 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812862 rs369419270 |
1177 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140315523 CA812865 |
1178 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA812864 rs768846692 |
1178 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309641384 CA340016626 |
1179 | Q>R | No |
ClinGen gnomAD |
|
|
rs1315505195 CA340016656 |
1181 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1037410695 CA21660971 |
1182 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA812868 COSM27006 rs138093418 |
1182 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA812869 rs530770514 |
1183 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA812870 rs775642672 |
1184 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812872 rs766148161 |
1185 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812871 rs766148161 |
1185 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759442309 CA812873 |
1188 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759442309 CA340016782 |
1188 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812875 rs752458078 |
1191 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA812876 rs755593552 |
1192 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812877 rs763517386 |
1193 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150503655 CA21661025 |
1194 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA812880 rs748552530 |
1195 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812884 rs748370657 |
1199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1292584776 CA340016964 |
1200 | L>V | No |
ClinGen gnomAD |
|
|
rs1451115204 CA340016990 |
1202 | D>N | No |
ClinGen gnomAD |
|
|
CA812886 rs200885607 |
1205 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812888 rs770740453 |
1207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812887 rs368723795 |
1207 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812889 rs774497940 |
1208 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA21661092 rs989434962 |
1208 | G>S | No |
ClinGen Ensembl |
|
|
CA340017152 rs1460405185 |
1210 | Y>H | No |
ClinGen gnomAD |
|
|
CA812893 rs376364770 |
1212 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA812891 rs201150809 |
1212 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557839643 CA340017233 |
1214 | L>M | No |
ClinGen Ensembl |
|
|
rs753268231 CA812895 |
1215 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs566920391 CA812896 |
1216 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340017288 rs1553209425 |
1217 | D>G | No |
ClinGen Ensembl |
|
|
CA812898 rs200603784 |
1217 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755264682 CA812899 |
1220 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812901 rs748351910 |
1224 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs928460748 CA21661141 |
1225 | L>F | No |
ClinGen Ensembl |
|
|
CA340017474 rs1286475973 |
1226 | A>T | No |
ClinGen gnomAD |
|
|
CA340017493 rs1466179412 |
1227 | S>P | No |
ClinGen gnomAD |
|
|
rs1209338659 CA340017582 |
1231 | P>A | No |
ClinGen gnomAD |
|
|
CA21661143 rs984033281 |
1231 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1209338659 CA340017584 |
1231 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778093838 CA812903 |
1232 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA812904 rs199504853 |
1232 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA812906 rs774375134 |
1233 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA812905 rs771102511 |
1233 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1234 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21661473 rs928942520 |
1236 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA812933 rs772686657 |
1236 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340017837 rs772686657 |
1236 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340017824 rs928942520 |
1236 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1307184836 CA340017844 |
1237 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA812934 rs199960147 |
1238 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812935 rs768005889 |
1239 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA812936 rs753303584 |
1242 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs760891458 CA340017980 |
1243 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760891458 CA812937 |
1243 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306249673 CA340018017 |
1244 | D>E | No |
ClinGen gnomAD |
|
|
CA812941 rs371253686 |
1247 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371253686 CA812940 |
1247 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812942 rs375842660 |
1248 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA812943 rs375842660 |
1248 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779846237 CA812944 |
1249 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA812946 rs768291568 |
1252 | P>L | No |
ClinGen ExAC |
|
|
CA812945 rs746966652 |
1252 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781060877 CA812947 |
1253 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA812949 rs747982551 |
1254 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs769404453 CA812950 |
1255 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165482795 CA340018267 |
1256 | Q>H | No |
ClinGen TOPMed |
|
|
CA812951 rs146804143 |
1257 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812953 rs145421480 |
1259 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA812956 rs764318613 |
1261 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs777034925 CA812957 COSM909878 |
1265 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340018484 rs1351632915 |
1266 | G>D | No |
ClinGen gnomAD |
|
|
CA812961 COSM909879 rs201841127 |
1268 | V>M | Variant assessed as Somatic; 0.0001387 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340018549 rs1570598703 |
1271 | V>A | No |
ClinGen Ensembl |
|
|
rs1282776699 CA340018608 |
1275 | I>V | No |
ClinGen Ensembl |
|
|
CA812966 rs754919062 |
1276 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812965 rs754919062 |
1276 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747931170 CA812967 |
1277 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA812969 rs146960105 |
1280 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA812972 rs773936534 |
1282 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753964488 CA21661669 |
1282 | L>P | No |
ClinGen Ensembl |
|
|
CA813000 rs773686451 |
1289 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs763264668 CA813001 |
1290 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1448221458 CA340019116 |
1291 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1448221458 CA340019117 |
1291 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA21663815 rs763328337 |
1292 | P>L | No |
ClinGen TOPMed |
|
|
CA340019128 rs1253960522 |
1293 | S>F | No |
ClinGen TOPMed |
|
|
CA340019136 rs1570624727 |
1295 | K>E | No |
ClinGen Ensembl |
|
|
CA813006 rs752592428 |
1301 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760628972 CA813007 |
1301 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA21663850 rs993036102 |
1306 | L>F | No |
ClinGen TOPMed |
|
|
rs1049953768 CA21663852 |
1308 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764069317 CA813008 |
1312 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753601305 CA813009 |
1313 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA340019282 rs113465093 |
1317 | R>G | No |
ClinGen TOPMed |
|
|
CA813010 rs777629923 |
1317 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs113465093 CA21663876 |
1317 | R>W | No |
ClinGen TOPMed |
|
|
CA340019287 rs1484052835 |
1318 | R>K | No |
ClinGen gnomAD |
|
|
CA21663904 rs1044521354 |
1321 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA21663920 rs551264881 |
1322 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA340019323 rs1411223375 |
1323 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 1324 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237499608 CA340020236 |
1326 | M>I | No |
ClinGen gnomAD |
|
|
rs1189198619 CA340020232 |
1326 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA813054 rs765265238 |
1327 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1163354852 CA340020240 |
1327 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340020249 rs1414794847 |
1329 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340020269 rs1458274555 |
1330 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1330 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813055 rs772848582 |
1332 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762905507 CA813056 |
1333 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs145593130 CA21667782 COSM108155 |
1335 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771277235 CA21667793 |
1336 | D>N | No |
ClinGen gnomAD |
|
|
CA340020338 rs771277235 |
1336 | D>Y | No |
ClinGen gnomAD |
|
|
rs751268560 CA340020352 |
1337 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371752134 CA813059 |
1338 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA21667817 rs773927069 |
1340 | N>D | No |
ClinGen Ensembl |
|
|
CA813062 rs754321401 |
1340 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754321401 CA813061 |
1340 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348295565 CA340020401 |
1341 | I>V | No |
ClinGen gnomAD |
|
|
rs746215058 CA813064 |
1342 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA813063 rs779515985 |
1342 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369549174 CA813065 |
1343 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761487819 CA813066 |
1343 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21667867 rs761487819 |
1343 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813068 rs202114940 |
1345 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528728508 CA21667902 |
1347 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA813070 rs748296641 |
1348 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748296641 CA21667932 |
1348 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401725517 CA340020522 |
1350 | L>R | No |
ClinGen gnomAD |
|
|
rs769612296 CA813071 |
1351 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1220050094 CA340020529 |
1351 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1354 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944539538 CA21667938 |
1355 | E>A | No |
ClinGen TOPMed |
|
|
CA813072 rs773257469 |
1355 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs762776569 CA813073 |
1356 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA340020606 rs1420797332 |
1357 | E>K | No |
ClinGen gnomAD |
|
|
rs763667914 CA813097 |
1359 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763477204 CA813099 |
1360 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1206641795 CA340020906 |
1363 | Q>P | No |
ClinGen TOPMed |
|
|
CA340020926 rs1339395530 |
1364 | Q>L | No |
ClinGen TOPMed |
|
|
rs751913526 CA813101 |
1366 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340020953 rs751913526 |
1366 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1368 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370341354 CA340020999 |
1369 | N>S | No |
ClinGen gnomAD |
|
|
CA813102 rs755425568 |
1370 | S>P | No |
ClinGen ExAC |
|
| TCGA novel | 1373 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340021059 rs1203282758 |
1374 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340021056 rs1203282758 |
1374 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1165576828 CA340021130 |
1380 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA813103 rs781210446 |
1381 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA21674070 rs886198606 |
1381 | Y>D | No |
ClinGen gnomAD |
|
|
rs752966262 CA21674073 |
1382 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752966262 COSM909882 CA813104 |
1382 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA813108 rs148741898 |
1386 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148741898 CA813109 |
1386 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1388 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760409112 CA813113 |
1389 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1210951527 CA340021257 |
1391 | R>* | No |
ClinGen gnomAD |
|
|
rs1210951527 CA340021255 |
1391 | R>G | No |
ClinGen gnomAD |
|
|
CA813114 rs768005633 |
1392 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776101253 CA813115 |
1393 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813116 rs761375386 |
1395 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417036459 CA340021345 |
1398 | D>N | No |
ClinGen gnomAD |
|
| rs895328726 | 1399 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761012325 CA813141 |
1399 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA340021362 rs1459855311 |
1399 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764399239 CA813142 |
1400 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202116615 CA813145 |
1402 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA813148 rs758321458 |
1404 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs758321458 CA813147 |
1404 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA340021507 rs1249085092 |
1407 | N>S | No |
ClinGen TOPMed |
|
|
CA21674491 rs930278268 |
1409 | N>D | No |
ClinGen Ensembl |
|
|
rs1427091924 CA340021579 |
1412 | D>N | No |
ClinGen gnomAD |
|
|
rs754775343 CA813150 |
1414 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs780769007 CA813151 |
1415 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs370637531 CA813152 COSM909883 |
1415 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1431134339 CA340021628 |
1416 | K>E | No |
ClinGen gnomAD |
|
|
rs1431134339 CA340021631 |
1416 | K>Q | No |
ClinGen gnomAD |
|
|
rs1337100027 CA340021678 |
1419 | A>T | No |
ClinGen gnomAD |
|
|
rs1328990399 CA340021722 |
1421 | I>V | No |
ClinGen gnomAD |
|
|
CA340021738 rs1310657329 |
1422 | A>T | No |
ClinGen TOPMed |
|
|
CA813155 rs748798640 |
1423 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1322347994 CA340021787 |
1424 | Q>P | No |
ClinGen TOPMed |
|
|
CA340021850 rs1557869652 |
1428 | P>S | No |
ClinGen Ensembl |
|
|
CA340021918 rs1383913294 |
1431 | M>V | No |
ClinGen TOPMed |
|
|
rs776942329 CA813160 |
1433 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21674576 rs641351 |
1436 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340022167 rs1202367134 |
1442 | R>C | No |
ClinGen gnomAD |
|
|
CA813163 rs367870850 |
1442 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA340022188 rs1192576595 |
1443 | T>M | No |
ClinGen gnomAD |
|
|
rs1167972950 CA340022207 |
1444 | A>D | No |
ClinGen gnomAD |
|
|
rs751468520 CA813166 |
1444 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340022218 rs1408645384 |
1445 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1167542100 CA340022256 |
1446 | V>G | No |
ClinGen gnomAD |
|
|
CA340022271 rs1395607317 |
1447 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA813168 rs535518899 |
1448 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549116245 CA813170 |
1451 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1222636 CA813169 rs367752429 |
1451 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA340022356 rs1570719071 |
1453 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1454 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570719121 CA340022374 |
1454 | E>G | No |
ClinGen Ensembl |
|
|
rs1570719151 CA340022381 |
1455 | K>E | No |
ClinGen Ensembl |
|
|
CA340022398 rs1570719182 |
1456 | S>A | No |
ClinGen Ensembl |
|
| rs1212688237 | 1457 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340022409 rs1570719227 |
1457 | R>W | No |
ClinGen Ensembl |
|
|
rs1257687543 CA340023750 |
1458 | V>A | No |
ClinGen gnomAD |
|
|
rs1212390431 CA340023742 |
1458 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1460 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21675236 rs903062795 |
1462 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs778315843 CA813193 |
1467 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745409381 CA813194 |
1467 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470736677 CA340023844 |
1468 | G>C | No |
ClinGen gnomAD |
|
|
CA813195 rs769260975 |
1469 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781778248 CA813196 |
1469 | T>I | No |
ClinGen ExAC |
|
|
rs1416435157 CA340023854 |
1470 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1313551565 CA340023866 |
1471 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340023879 rs1374926406 |
1473 | G>D | No |
ClinGen gnomAD |
|
|
CA340023901 rs1570727242 |
1476 | Q>H | No |
ClinGen Ensembl |
|
|
CA21675295 rs1012660995 |
1477 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs763118237 CA813200 |
1478 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022695131 CA21675314 |
1480 | L>S | No |
ClinGen TOPMed |
|
|
CA813203 rs146964251 |
1481 | D>H | No |
ClinGen ESP ExAC |
|
|
CA340023934 rs1459599287 |
1482 | T>K | No |
ClinGen Ensembl |
|
|
CA21675319 rs775410354 |
1483 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA813205 rs775410354 |
1483 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1483 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389018689 CA340023943 |
1484 | E>Q | No |
ClinGen TOPMed |
|
|
rs1280346162 CA340023953 |
1485 | L>R | No |
ClinGen gnomAD |
|
|
CA813206 rs760404112 |
1486 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA813208 rs371587895 |
1488 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813209 rs756825445 |
1489 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA813210 rs764987244 |
1489 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs749935647 COSM909885 CA813211 |
1491 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs375234489 COSM3400816 CA813212 |
1491 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202030226 CA813215 |
1494 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340024006 rs1398514141 |
1495 | L>F | No |
ClinGen gnomAD |
|
|
CA340024007 rs1398514141 |
1495 | L>V | No |
ClinGen gnomAD |
|
|
rs1391964552 CA340024013 |
1496 | H>Y | No |
ClinGen gnomAD |
|
|
rs1165369421 CA340024035 |
1498 | S>R | No |
ClinGen gnomAD |
|
|
CA813240 rs142031392 |
1498 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340024046 rs1290285355 |
1499 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776693106 CA813243 |
1501 | S>R | No |
ClinGen ExAC |
|
|
rs1381131887 CA340024057 |
1501 | S>T | No |
ClinGen gnomAD |
|
|
rs761445525 CA813244 |
1504 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813245 rs769736949 |
1504 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190997680 CA813247 |
1505 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000912168 CA813248 rs17849118 |
1506 | L>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1218164234 CA340024094 |
1507 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA21675730 rs1028882041 COSM909886 |
1507 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1176281524 CA340024124 |
1511 | F>C | No |
ClinGen TOPMed |
|
|
CA813250 rs759154108 |
1511 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476106910 CA340024162 |
1516 | D>G | No |
ClinGen gnomAD |
|
|
rs1032025108 CA21675750 |
1517 | H>R | No |
ClinGen TOPMed |
|
|
rs113456929 CA813253 |
1518 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21675760 rs917133176 |
1520 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1520 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21675762 rs956429904 |
1525 | P>A | No |
ClinGen Ensembl |
|
|
rs750825052 CA813255 |
1525 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA813257 rs758595390 |
1528 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA813256 rs758595390 |
1528 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs70937045 CA813259 |
1531 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs70937045 CA813258 |
1531 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA813262 rs755881493 |
1532 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813261 rs748151594 |
1532 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773121796 CA813263 |
1534 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762901411 CA340024269 |
1535 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA813264 rs762901411 |
1535 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237155038 CA340024277 |
1536 | C>Y | No |
ClinGen gnomAD |
|
|
CA340024287 rs774058164 CA813266 |
1537 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813265 rs770704706 |
1537 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340024285 rs770704706 |
1537 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758914545 CA813267 |
1539 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs754258723 CA813269 COSM1667508 |
1541 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340024311 rs1418092772 |
1542 | G>R | No |
ClinGen gnomAD |
|
|
rs1454942387 CA340024325 |
1544 | M>L | No |
ClinGen TOPMed |
|
|
rs563305665 CA813270 |
1544 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340024331 rs1434767385 |
1545 | V>M | No |
ClinGen gnomAD |
|
|
rs1172532472 CA340024338 |
1546 | V>L | No |
ClinGen gnomAD |
|
|
rs868712206 CA21675857 |
1548 | C>* | No |
ClinGen gnomAD |
|
| rs767692370 | 1549 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767692370 CA340024376 |
1549 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756268896 CA340024380 |
1550 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813297 rs752821972 |
1550 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756268896 CA813298 |
1550 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917715521 CA21676115 |
1552 | V>A | No |
ClinGen TOPMed |
|
|
rs370996086 CA340024389 |
1552 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370996086 CA813300 |
1552 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756962072 CA813301 |
1554 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778737593 CA813302 |
1554 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21676129 rs796130608 |
1555 | T>A | No |
ClinGen Ensembl |
|
|
CA813303 rs745698006 |
1556 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340024432 rs1216731645 |
1559 | I>S | No |
ClinGen gnomAD |
|
|
CA813304 rs548137409 |
1559 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1667509 CA813305 rs545781120 |
1560 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766848150 CA813310 |
1564 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763422012 CA813309 |
1564 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813311 rs139472475 |
1567 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340024483 rs1273214223 |
1567 | R>W | No |
ClinGen TOPMed |
|
|
CA813312 rs759888484 |
1568 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA813313 rs767714096 |
1569 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs908518826 CA21676177 |
1571 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1430627272 CA340024517 |
1572 | K>E | No |
ClinGen TOPMed |
|
|
CA813314 rs752983554 |
1573 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340024541 rs1317650582 |
1575 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA813316 rs374607021 |
1575 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA21676200 rs901266646 |
1576 | I>M | No |
ClinGen Ensembl |
|
|
rs754009897 CA813317 |
1577 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1578 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340024555 rs1398022225 |
1578 | G>S | No |
ClinGen gnomAD |
|
|
CA813319 rs778771796 |
1580 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340024569 rs1557875012 |
1580 | V>M | No |
ClinGen Ensembl |
|
|
rs779621604 CA813322 |
1583 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA813321 rs758129076 |
1583 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA813320 rs745670160 |
1583 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340024595 rs746682490 |
1584 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM426317 rs1302070237 CA340024598 |
1584 | R>Q | large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768112017 CA813324 |
1585 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185864439 CA340024649 |
1590 | M>I | No |
ClinGen gnomAD |
|
|
CA813326 rs747718453 |
1590 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA813327 rs377575574 |
1593 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158238606 CA340024723 |
1595 | D>N | No |
ClinGen gnomAD |
|
|
rs772345080 CA813330 |
1598 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340024824 rs1395449668 |
1600 | I>L | No |
ClinGen gnomAD |
|
|
CA340024833 rs1239648530 |
1600 | I>T | No |
ClinGen gnomAD |
|
|
CA813331 rs371076941 |
1601 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813332 rs760947139 |
1602 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA813334 rs558223872 |
1603 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373838949 CA813335 |
1603 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1606 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340024958 rs1344845933 |
1609 | T>A | No |
ClinGen gnomAD |
|
|
CA813339 rs145211050 |
1609 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780893841 CA813342 |
1610 | C>Y | No |
ClinGen ExAC |
|
|
rs779426523 CA813346 |
1611 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200975835 CA813345 |
1611 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779426523 TCGA novel CA340025005 RCV000791076 |
1611 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA ExAC dbSNP gnomAD |
|
CA813348 rs772747132 |
1614 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340025053 rs1570737818 |
1615 | V>G | No |
ClinGen Ensembl |
|
|
rs775973893 CA813349 |
1617 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs557123403 CA21676365 |
1618 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs761178241 CA813350 |
1618 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330495069 CA340025096 |
1619 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA813352 rs202169828 |
1619 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163327417 CA340025130 |
1621 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA813354 rs142117073 |
1621 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163327417 CA340025126 |
1621 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1303429374 CA340025140 |
1622 | A>T | No |
ClinGen gnomAD |
|
|
CA813355 rs750332454 |
1623 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA813356 rs762765550 |
1625 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA813358 rs150085995 |
1628 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256630824 CA340025262 |
1629 | Q>H | No |
ClinGen gnomAD |
|
|
rs1214567224 CA340025269 |
1630 | V>A | No |
ClinGen gnomAD |
|
|
rs754777001 CA813359 |
1630 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs752315680 CA813361 |
1631 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813363 rs777117732 |
1633 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs748877164 CA813364 |
1634 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340025336 rs1557876101 |
1635 | S>R | No |
ClinGen Ensembl |
|
|
CA813365 rs758958686 |
1635 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA813366 rs565355095 |
1636 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1581562 CA340025354 rs1397867455 |
1636 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340025383 rs1389621772 |
1637 | T>S | No |
ClinGen gnomAD |
|
|
CA813369 rs541451200 |
1638 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541451200 CA813370 |
1638 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1327523720 CA340025394 |
1638 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1642 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570739191 CA340025495 |
1644 | K>M | No |
ClinGen Ensembl |
|
|
rs759439345 CA813394 |
1648 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs767540594 CA813395 |
1650 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813396 rs775132901 |
1651 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA813397 rs775132901 |
1651 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA21676718 rs532554718 |
1651 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1377458062 CA340025673 |
1652 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA813398 rs763586039 |
1653 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763586039 CA813399 |
1653 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813402 rs749990734 |
1655 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340025706 rs749990734 |
1655 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755516127 CA813403 |
1655 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1656 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349886664 CA340025769 |
1658 | S>T | No |
ClinGen gnomAD |
|
|
rs1016222559 COSM215589 CA21676793 |
1659 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA340025814 rs777812290 |
1660 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA813407 rs777812290 |
1660 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs565463212 CA340025829 |
1662 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA813408 rs565463212 |
1662 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA813409 rs771183252 |
1663 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438768947 CA340025874 |
1665 | K>T | No |
ClinGen gnomAD |
|
|
CA340025894 rs1570741869 |
1666 | F>S | No |
ClinGen Ensembl |
|
|
CA813410 rs534381986 |
1668 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA813411 COSM909888 rs746007326 |
1669 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA340025968 rs771897426 |
1671 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771897426 CA813412 |
1671 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813413 rs775500719 |
1672 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA340026068 rs1463828635 |
1677 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1570742184 CA340026100 |
1679 | T>P | No |
ClinGen Ensembl |
|
|
rs1444849774 CA340026122 |
1680 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776380044 CA813416 |
1687 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1387514159 CA340026221 |
1687 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340026243 rs1219699868 |
1689 | V>M | No |
ClinGen gnomAD |
|
|
rs1188744998 CA340026292 |
1692 | S>T | No |
ClinGen TOPMed |
|
|
CA340026336 rs1258470133 |
1694 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1570742730 CA340026371 |
1696 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1698 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340026467 rs771181177 |
1702 | G>A | No |
ClinGen gnomAD |
|
|
CA21676918 rs771181177 |
1702 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139706869 CA813419 |
1702 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287074551 CA340026563 |
1706 | Q>R | No |
ClinGen gnomAD |
|
|
rs1205474230 CA340026580 |
1708 | A>V | No |
ClinGen TOPMed |
|
|
rs751071796 CA813444 |
1709 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA813446 rs764644238 |
1710 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1410487785 CA340026631 |
1717 | A>T | No |
ClinGen gnomAD |
|
|
CA340026657 rs1557878360 |
1720 | T>I | No |
ClinGen Ensembl |
|
|
CA813452 rs780147204 COSM909889 |
1721 | E>K | oesophagus large_intestine endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1376549439 CA340026670 |
1722 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1723 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338025567 CA340026683 |
1724 | W>R | No |
ClinGen TOPMed |
|
|
CA813453 rs747103988 |
1725 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA813454 rs754926878 |
1725 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA813455 rs781342226 |
1726 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs769736790 CA813457 |
1728 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1471237893 CA340026717 |
1729 | E>Q | No |
ClinGen TOPMed |
|
|
rs772962387 CA813458 |
1730 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813460 rs142050471 |
1731 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340026759 rs1240227296 |
1735 | I>T | No |
ClinGen gnomAD |
|
|
rs773899805 CA813461 |
1735 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA813462 rs759036059 |
1736 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1737 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813463 rs764519639 |
1739 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340026788 rs1442172384 |
1740 | K>E | No |
ClinGen gnomAD |
|
|
rs1185928664 CA340026790 |
1740 | K>R | No |
ClinGen gnomAD |
|
|
CA813467 rs750789308 |
1742 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA813466 rs765620781 |
1742 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA340026817 rs1178019713 |
1744 | M>I | No |
ClinGen gnomAD |
|
|
rs1440607876 CA340026824 |
1745 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1746 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340027760 rs1450905649 |
1750 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340027823 rs1570750658 |
1754 | P>R | No |
ClinGen Ensembl |
|
|
CA340027832 rs1478012102 |
1755 | A>E | No |
ClinGen gnomAD |
|
|
CA340027827 rs1265297751 |
1755 | A>T | No |
ClinGen gnomAD |
|
|
rs757017636 CA340027858 |
1757 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757017636 CA813495 |
1757 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM284381 rs372799990 CA813496 |
1757 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA813497 rs745550474 |
1758 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA813498 rs771751666 |
1759 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385558867 CA340027897 |
1760 | R>C | No |
ClinGen gnomAD |
|
|
CA813499 rs779513130 |
1760 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340027906 rs779513130 |
1760 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223441079 CA340027983 |
1763 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA340028029 rs1276775648 |
1765 | V>I | No |
ClinGen gnomAD |
|
|
rs1323663408 CA340028052 |
1766 | V>A | No |
ClinGen gnomAD |
|
|
rs770277923 CA813501 |
1767 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs773594682 CA813502 |
1768 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813503 rs763330721 |
1770 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1430783133 CA340028128 |
1770 | A>V | No |
ClinGen TOPMed |
|
|
CA813506 rs759814948 |
1772 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA813507 rs767910194 |
1773 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA21677447 rs201747944 |
1774 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21677451 rs913340844 |
1775 | P>L | No |
ClinGen gnomAD |
|
|
rs752820297 CA813508 |
1775 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752820297 CA340028274 |
1775 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422196179 CA340028330 |
1776 | Q>H | No |
ClinGen gnomAD |
|
|
CA813509 rs151136180 |
1780 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813511 rs151136180 |
1780 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200155899 CA21677483 |
1781 | E>G | No |
ClinGen 1000Genomes |
|
|
rs201633718 CA21677487 |
1783 | K>R | No |
ClinGen 1000Genomes |
|
|
CA21677488 rs201039893 |
1785 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340028517 rs1419632455 |
1785 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340028547 rs1557880340 |
1786 | D>V | No |
ClinGen Ensembl |
|
|
CA813513 rs746786262 |
1788 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21677789 COSM3805343 COSM3805341 rs953278964 |
1790 | G>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1427661601 CA340028750 |
1791 | Q>H | No |
ClinGen gnomAD |
|
|
CA813549 rs768967831 |
1796 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA340028827 rs768967831 |
1796 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747165352 CA813548 |
1796 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA340029051 rs1369562264 |
1807 | G>V | No |
ClinGen gnomAD |
|
|
CA340029067 rs1570755803 |
1808 | V>G | No |
ClinGen Ensembl |
|
|
rs762685023 CA813554 |
1808 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1220283248 CA340029074 |
1809 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1370427192 CA340029098 |
1811 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340029112 rs1201742137 |
1812 | G>D | No |
ClinGen gnomAD |
|
|
CA340029142 rs1220801019 |
1813 | E>D | No |
ClinGen TOPMed |
|
|
CA340029150 rs1309029917 |
1814 | G>E | No |
ClinGen gnomAD |
|
|
rs1308023685 CA340029194 |
1816 | I>V | No |
ClinGen TOPMed |
|
|
rs1191150782 CA340029255 |
1819 | I>T | No |
ClinGen gnomAD |
|
|
rs752086534 CA813559 |
1820 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA340029288 rs1171906145 |
1821 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1570756284 CA340029300 |
1822 | V>G | No |
ClinGen Ensembl |
|
|
rs1216259641 CA340029324 |
1824 | K>E | No |
ClinGen TOPMed |
|
|
rs972813693 CA21677852 |
1824 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1408438550 CA340029456 |
1831 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340029473 rs1339202074 |
1833 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1833 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813560 rs755667245 |
1834 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746411435 CA340029512 |
1836 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs746411435 CA813562 |
1836 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA340029507 rs1292169218 |
1836 | T>S | No |
ClinGen TOPMed |
|
|
rs1212745213 CA340029699 |
1843 | V>M | No |
ClinGen gnomAD |
|
|
rs1234724539 CA340029737 |
1845 | R>C | No |
ClinGen TOPMed |
|
|
rs755382808 CA813585 |
1847 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21677999 rs202216723 |
1848 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA340029800 rs1386581708 |
1848 | V>L | No |
ClinGen TOPMed |
|
|
CA21678000 rs1010214181 |
1850 | I>L | No |
ClinGen TOPMed |
|
|
CA813587 rs748431718 |
1850 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1010214181 CA340029853 |
1850 | I>V | No |
ClinGen TOPMed |
|
|
rs1441420459 CA340029883 |
1851 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340029959 rs1384223816 |
1854 | I>T | No |
ClinGen gnomAD |
|
|
CA813588 rs770052959 |
1854 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs150260807 CA813590 |
1855 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813592 rs774364089 |
1858 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340030027 rs1175556576 |
1858 | R>H | No |
ClinGen TOPMed |
|
|
rs1378513685 CA340030032 |
1859 | M>V | No |
ClinGen gnomAD |
|
|
CA340030049 rs1570758725 |
1860 | R>C | No |
ClinGen Ensembl |
|
|
CA813593 rs373895014 |
1860 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1143702 CA21678026 |
1861 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349236746 CA340030066 |
1861 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs771936458 CA340030061 |
1861 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349236746 CA340030068 |
1861 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA813594 rs771936458 |
1861 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813597 rs763894460 |
1864 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs866290185 CA21678039 |
1866 | D>G | No |
ClinGen Ensembl |
|
|
CA813599 rs761408146 |
1866 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766934711 CA340030173 CA813600 |
1867 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340030161 rs1351651395 |
1867 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340030159 rs1351651395 |
1867 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752128149 CA813601 |
1869 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA813603 rs781600148 COSM1263472 |
1871 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340030246 rs1570759316 |
1873 | T>P | No |
ClinGen Ensembl |
|
|
CA340030248 rs1570759316 |
1873 | T>S | No |
ClinGen Ensembl |
|
|
rs753061964 CA813604 |
1874 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA21678107 rs990623648 |
1874 | L>V | No |
ClinGen gnomAD |
|
|
rs756325478 CA813605 |
1875 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs368302488 CA813607 |
1876 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340030271 rs1446869120 |
1877 | Q>H | No |
ClinGen gnomAD |
|
|
rs1376848279 CA340030297 |
1881 | M>I | No |
ClinGen TOPMed |
|
|
CA21678120 rs962970239 |
1884 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340030314 rs962970239 |
1884 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1885 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342550191 CA340030342 |
1886 | D>A | No |
ClinGen gnomAD |
|
|
CA340030343 rs1342550191 |
1886 | D>G | No |
ClinGen gnomAD |
|
|
CA813636 RCV000980615 rs200249684 |
1889 | Q>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs986176825 CA21678719 |
1893 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA340030392 rs986176825 |
1893 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000908232 rs141490430 CA813639 |
1893 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764413298 CA813640 |
1894 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757485025 CA813642 |
1899 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA813644 rs750446848 |
1900 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340030442 rs1384098301 |
1901 | S>I | No |
ClinGen gnomAD |
|
|
rs1458174624 CA340030445 |
1902 | F>I | No |
ClinGen TOPMed |
|
|
CA21678776 rs145316280 |
1905 | Y>C | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 1905 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287556112 CA340030487 |
1907 | T>M | No |
ClinGen TOPMed gnomAD |
1 associated diseases with P10586
[MIM: 616001]: Aplasia or hypoplasia of the breasts and/or nipples 2 (BNAH2)
A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). {ECO:0000269|PubMed:24781087}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). {ECO:0000269|PubMed:24781087}. Note=The disease is caused by variants affecting the gene represented in this entry.
28 regional properties for P10586
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tyrosine-specific protein phosphatase, PTPase domain | 1351 - 1609 | IPR000242-1 |
| domain | Tyrosine-specific protein phosphatase, PTPase domain | 1638 - 1900 | IPR000242-2 |
| domain | Tyrosine-specific protein phosphatases domain | 1527 - 1598 | IPR000387-1 |
| domain | Tyrosine-specific protein phosphatases domain | 1816 - 1889 | IPR000387-2 |
| domain | Protein-tyrosine phosphatase, catalytic | 1505 - 1606 | IPR003595-1 |
| domain | Protein-tyrosine phosphatase, catalytic | 1794 - 1897 | IPR003595-2 |
| domain | Immunoglobulin subtype 2 | 45 - 114 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 147 - 214 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 244 - 305 | IPR003598-3 |
| domain | Immunoglobulin subtype | 39 - 125 | IPR003599-1 |
| domain | Immunoglobulin subtype | 141 - 226 | IPR003599-2 |
| domain | Immunoglobulin subtype | 238 - 316 | IPR003599-3 |
| domain | Fibronectin type III | 319 - 411 | IPR003961-1 |
| domain | Fibronectin type III | 414 - 510 | IPR003961-2 |
| domain | Fibronectin type III | 512 - 604 | IPR003961-3 |
| domain | Fibronectin type III | 606 - 706 | IPR003961-4 |
| domain | Fibronectin type III | 709 - 819 | IPR003961-5 |
| domain | Fibronectin type III | 820 - 914 | IPR003961-6 |
| domain | Fibronectin type III | 916 - 1010 | IPR003961-7 |
| domain | Fibronectin type III | 1012 - 1088 | IPR003961-8 |
| domain | Immunoglobulin-like domain | 33 - 123 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 135 - 224 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 232 - 314 | IPR007110-3 |
| domain | Immunoglobulin I-set | 33 - 124 | IPR013098-1 |
| domain | Immunoglobulin I-set | 135 - 216 | IPR013098-2 |
| domain | Immunoglobulin I-set | 232 - 315 | IPR013098-3 |
| active_site | Protein-tyrosine phosphatase, active site | 1546 - 1556 | IPR016130-1 |
| active_site | Protein-tyrosine phosphatase, active site | 1837 - 1847 | IPR016130-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cell adhesion molecule binding | Binding to a cell adhesion molecule. |
| chondroitin sulfate proteoglycan binding | Binding to a chondroitin sulfate proteoglycan, any proteoglycan containing chondroitin sulfate as the glycosaminoglycan carbohydrate unit. |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| transmembrane receptor protein tyrosine phosphatase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
9 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. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| negative regulation of receptor binding | Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. |
| neuron projection regeneration | The regrowth of neuronal processes such as axons or dendrites in response to their loss or damage. |
| peptidyl-tyrosine dephosphorylation | The removal of phosphoric residues from peptidyl-O-phospho-tyrosine to form peptidyl-tyrosine. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| regulation of axon regeneration | Any process that modulates the frequency, rate or extent of axon regeneration. |
| synaptic membrane adhesion | The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane. |
| transmembrane receptor protein tyrosine phosphatase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses protein tyrosine phosphatase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P08575 | PTPRC | Receptor-type tyrosine-protein phosphatase C | Homo sapiens (Human) | PR |
| P28827 | PTPRM | Receptor-type tyrosine-protein phosphatase mu | Homo sapiens (Human) | PR |
| Q15262 | PTPRK | Receptor-type tyrosine-protein phosphatase kappa | Homo sapiens (Human) | PR |
| P23468 | PTPRD | Receptor-type tyrosine-protein phosphatase delta | Homo sapiens (Human) | PR |
| Q13332 | PTPRS | Receptor-type tyrosine-protein phosphatase S | Homo sapiens (Human) | PR |
| P43378 | PTPN9 | Tyrosine-protein phosphatase non-receptor type 9 | Homo sapiens (Human) | PR |
| P49446 | Ptpre | Receptor-type tyrosine-protein phosphatase epsilon | Mus musculus (Mouse) | PR |
| Q64487 | Ptprd | Receptor-type tyrosine-protein phosphatase delta | Mus musculus (Mouse) | PR |
| P35822 | Ptprk | Receptor-type tyrosine-protein phosphatase kappa | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPEPAPGRT | MVPLVPALVM | LGLVAGAHGD | SKPVFIKVPE | DQTGLSGGVA | SFVCQATGEP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KPRITWMKKG | KKVSSQRFEV | IEFDDGAGSV | LRIQPLRVQR | DEAIYECTAT | NSLGEINTSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLSVLEEEQL | PPGFPSIDMG | PQLKVVEKAR | TATMLCAAGG | NPDPEISWFK | DFLPVDPATS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NGRIKQLRSG | ALQIESSEES | DQGKYECVAT | NSAGTRYSAP | ANLYVRVRRV | APRFSIPPSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QEVMPGGSVN | LTCVAVGAPM | PYVKWMMGAE | ELTKEDEMPV | GRNVLELSNV | VRSANYTCVA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISSLGMIEAT | AQVTVKALPK | PPIDLVVTET | TATSVTLTWD | SGNSEPVTYY | GIQYRAAGTE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GPFQEVDGVA | TTRYSIGGLS | PFSEYAFRVL | AVNSIGRGPP | SEAVRARTGE | QAPSSPPRRV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QARMLSASTM | LVQWEPPEEP | NGLVRGYRVY | YTPDSRRPPN | AWHKHNTDAG | LLTTVGSLLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GITYSLRVLA | FTAVGDGPPS | PTIQVKTQQG | VPAQPADFQA | EVESDTRIQL | SWLLPPQERI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IMYELVYWAA | EDEDQQHKVT | FDPTSSYTLE | DLKPDTLYRF | QLAARSDMGV | GVFTPTIEAR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TAQSTPSAPP | QKVMCVSMGS | TTVRVSWVPP | PADSRNGVIT | QYSVAYEAVD | GEDRGRHVVD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GISREHSSWD | LVGLEKWTEY | RVWVRAHTDV | GPGPESSPVL | VRTDEDVPSG | PPRKVEVEPL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NSTAVHVYWK | LPVPSKQHGQ | IRGYQVTYVR | LENGEPRGLP | IIQDVMLAEA | QWRPEESEDY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ETTISGLTPE | TTYSVTVAAY | TTKGDGARSK | PKIVTTTGAV | PGRPTMMIST | TAMNTALLQW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| HPPKELPGEL | LGYRLQYCRA | DEARPNTIDF | GKDDQHFTVT | GLHKGTTYIF | RLAAKNRAGL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GEEFEKEIRT | PEDLPSGFPQ | NLHVTGLTTS | TTELAWDPPV | LAERNGRIIS | YTVVFRDINS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QQELQNITTD | TRFTLTGLKP | DTTYDIKVRA | WTSKGSGPLS | PSIQSRTMPV | EQVFAKNFRV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AAAMKTSVLL | SWEVPDSYKS | AVPFKILYNG | QSVEVDGHSM | RKLIADLQPN | TEYSFVLMNR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GSSAGGLQHL | VSIRTAPDLL | PHKPLPASAY | IEDGRFDLSM | PHVQDPSLVR | WFYIVVVPID |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RVGGSMLTPR | WSTPEELELD | ELLEAIEQGG | EEQRRRRRQA | ERLKPYVAAQ | LDVLPETFTL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GDKKNYRGFY | NRPLSPDLSY | QCFVLASLKE | PMDQKRYASS | PYSDEIVVQV | TPAQQQEEPE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| MLWVTGPVLA | VILIILIVIA | ILLFKRKRTH | SPSSKDEQSI | GLKDSLLAHS | SDPVEMRRLN |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| YQTPGMRDHP | PIPITDLADN | IERLKANDGL | KFSQEYESID | PGQQFTWENS | NLEVNKPKNR |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| YANVIAYDHS | RVILTSIDGV | PGSDYINANY | IDGYRKQNAY | IATQGPLPET | MGDFWRMVWE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| QRTATVVMMT | RLEEKSRVKC | DQYWPARGTE | TCGLIQVTLL | DTVELATYTV | RTFALHKSGS |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| SEKRELRQFQ | FMAWPDHGVP | EYPTPILAFL | RRVKACNPLD | AGPMVVHCSA | GVGRTGCFIV |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| IDAMLERMKH | EKTVDIYGHV | TCMRSQRNYM | VQTEDQYVFI | HEALLEAATC | GHTEVPARNL |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| YAHIQKLGQV | PPGESVTAME | LEFKLLASSK | AHTSRFISAN | LPCNKFKNRL | VNIMPYELTR |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| VCLQPIRGVE | GSDYINASFL | DGYRQQKAYI | ATQGPLAEST | EDFWRMLWEH | NSTIIVMLTK |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| LREMGREKCH | QYWPAERSAR | YQYFVVDPMA | EYNMPQYILR | EFKVTDARDG | QSRTIRQFQF |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| TDWPEQGVPK | TGEGFIDFIG | QVHKTKEQFG | QDGPITVHCS | AGVGRTGVFI | TLSIVLERMR |
| 1870 | 1880 | 1890 | 1900 | ||
| YEGVVDMFQT | VKTLRTQRPA | MVQTEDQYQL | CYRAALEYLG | SFDHYAT |