P15144
PR
Gene name |
ANPEP (APN, CD13, PEPN) |
Protein name |
Aminopeptidase N |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:290 |
EC number |
3.4.11.2: Aminopeptidases |
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
13 structures for P15144
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4FYQ | X-ray | 190 A | A | 66-967 | PDB |
| 4FYR | X-ray | 191 A | A | 66-967 | PDB |
| 4FYS | X-ray | 201 A | A | 66-967 | PDB |
| 4FYT | X-ray | 185 A | A | 66-967 | PDB |
| 5LHD | X-ray | 260 A | A/B/C/D | 36-967 | PDB |
| 6ATK | X-ray | 350 A | A/B/C | 66-967 | PDB |
| 6U7E | X-ray | 300 A | A/B | 66-967 | PDB |
| 6U7F | X-ray | 275 A | A/B | 66-967 | PDB |
| 6U7G | X-ray | 235 A | A/B | 66-967 | PDB |
| 6XWD | X-ray | 160 A | P | 38-46 | PDB |
| 7AEW | X-ray | 120 A | BBB/CCC | 36-73 | PDB |
| 7VPQ | X-ray | 310 A | A/C/E | 62-963 | PDB |
| AF-P15144-F1 | Predicted | AlphaFoldDB |
855 variants for P15144
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs779918370 CA7731752 |
4 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749203622 CA7731753 |
4 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA393799484 rs1218986909 |
5 | F>S | No |
ClinGen gnomAD |
|
|
CA7731751 rs756077645 |
6 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274618181 rs952769355 |
8 | S>F | No |
ClinGen TOPMed |
|
|
rs372925298 CA274618177 |
12 | G>D | No |
ClinGen ESP TOPMed |
|
|
CA393799441 rs1296030609 |
12 | G>R | No |
ClinGen Ensembl |
|
|
CA393799422 rs1289304489 |
15 | G>E | No |
ClinGen gnomAD |
|
|
CA274618163 rs200368094 |
15 | G>W | No |
ClinGen Ensembl |
|
|
rs1406389634 CA393799411 |
17 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA274618115 rs10152474 |
20 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_031262 rs10152474 CA7731746 |
20 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA274618108 rs949029829 |
21 | A>G | No |
ClinGen gnomAD |
|
|
CA7731745 rs765662242 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7731743 rs766949181 |
23 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731742 rs766949181 |
23 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393799334 rs1464687157 |
24 | C>F | No |
ClinGen gnomAD |
|
|
CA393799317 rs1340822216 |
25 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs369184847 CA7731739 |
27 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369184847 CA7731740 |
27 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731737 COSM3720812 rs774040882 |
28 | A>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775269291 CA7731734 |
32 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369562331 CA393799233 |
37 | K>E | No |
ClinGen TOPMed |
|
|
CA274618028 rs199937838 |
41 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377406967 CA7731729 |
41 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731728 rs199937838 |
41 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731727 rs755278198 |
42 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393545640 CA393799187 |
43 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393799182 rs1449250575 |
44 | S>A | No |
ClinGen gnomAD |
|
|
CA7731722 rs201493541 |
46 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731723 rs201493541 |
46 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA393799166 rs1247747682 |
47 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761182007 CA393799153 |
49 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761182007 CA7731721 |
49 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs757228195 CA274617964 |
50 | T>I | No |
ClinGen Ensembl |
|
|
CA393799151 rs1217547542 |
50 | T>P | No |
ClinGen gnomAD |
|
|
CA7731717 rs373138765 |
51 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373138765 CA393799143 |
51 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731718 rs762611345 |
51 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 52 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7731715 rs759489673 |
52 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 52 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770920877 CA393799136 |
53 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770920877 CA7731713 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112357909 CA274617944 |
54 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA7731712 rs748132362 |
54 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs112357909 CA7731711 |
54 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA393799129 rs1389076356 |
55 | A>T | No |
ClinGen TOPMed |
|
|
CA393799124 rs1306871670 |
55 | A>V | No |
ClinGen gnomAD |
|
|
CA393799122 rs1596170498 |
56 | T>P | No |
ClinGen Ensembl |
|
|
rs986360874 CA274617927 |
57 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA393799113 rs1312456624 |
57 | T>I | No |
ClinGen TOPMed |
|
|
CA393799115 rs1312456624 |
57 | T>N | No |
ClinGen TOPMed |
|
|
rs1377905996 CA393799112 |
58 | N>H | No |
ClinGen TOPMed |
|
|
CA7731708 rs756474209 |
58 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756474209 CA7731707 |
58 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA393799104 rs1368137802 |
59 | P>S | No |
ClinGen gnomAD |
|
|
CA393799100 rs757787924 |
60 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757787924 CA393799099 |
60 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757787924 CA7731704 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731702 rs763656090 |
61 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7731697 rs574341939 |
62 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596170458 CA393799076 |
64 | T>N | No |
ClinGen Ensembl |
|
|
CA393799059 rs1355312734 |
66 | D>E | No |
ClinGen gnomAD |
|
|
rs1270799970 CA393799064 |
66 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA393799053 rs1198003237 |
67 | Q>R | No |
ClinGen gnomAD |
|
|
CA393799046 rs1279779352 |
68 | S>T | No |
ClinGen gnomAD |
|
|
rs1015687921 CA393799031 |
70 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA274617875 rs1015687921 |
70 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 71 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7731689 COSM966419 rs200298670 |
73 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA274617863 rs200298670 |
73 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA274617836 rs984229584 |
73 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7731690 rs200298670 |
73 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393799009 rs1567162161 |
74 | Y>H | No |
ClinGen Ensembl |
|
|
rs760700420 CA7731687 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7731686 rs774559089 |
75 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA393798979 rs1343895884 |
78 | N>K | No |
ClinGen gnomAD |
|
|
CA393798986 rs1458753800 |
78 | N>Y | No |
ClinGen TOPMed |
|
|
rs144915494 CA7731685 |
79 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393798974 rs144915494 |
79 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368908725 CA274617812 |
82 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs376501954 CA7731681 |
83 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7731680 rs781630796 |
83 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7731682 rs376501954 |
83 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7731679 rs757695498 |
85 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_014736 rs25653 CA7731678 |
86 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM3817039 CA274617774 rs1055088958 |
86 | R>W | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7731677 rs569385341 COSM2156888 |
88 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs372186369 CA7731676 |
91 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1450964034 CA393798896 |
93 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1450964034 CA393798898 |
93 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 94 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200485322 CA7731673 |
94 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7731672 rs200485322 |
94 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754660003 CA7731671 |
96 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375180451 CA7731670 |
97 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766254593 CA7731669 |
98 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs773320516 CA7731667 |
99 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA274617687 rs928677106 |
100 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1414871854 CA393798817 |
102 | V>A | No |
ClinGen TOPMed |
|
|
CA7731663 rs769850318 |
102 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393798824 rs769850318 |
102 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368883377 CA7731662 |
103 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189537233 CA393798761 |
106 | S>F | No |
ClinGen gnomAD |
|
|
CA393798765 rs1189537233 |
106 | S>Y | No |
ClinGen gnomAD |
|
|
COSM1183060 CA7731658 rs150675107 |
109 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140990496 CA7731656 |
110 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7731655 rs778496286 |
110 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA393798692 rs1596170307 |
112 | T>P | No |
ClinGen Ensembl |
|
|
rs754573100 CA7731654 |
113 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA393798670 rs1596170302 |
113 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7731653 rs753592472 |
115 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs41276922 CA7731652 |
118 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370969705 CA7731650 |
119 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs544815907 CA7731649 |
122 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1433337557 CA393798595 |
124 | S>N | No |
ClinGen gnomAD |
|
|
rs769389151 CA274617604 |
125 | K>N | No |
ClinGen Ensembl |
|
|
rs1015636987 CA274617608 |
125 | K>R | No |
ClinGen Ensembl |
|
|
CA7731648 rs141945020 |
130 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141945020 CA7731647 |
130 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393798554 rs1596170273 |
130 | T>P | No |
ClinGen Ensembl |
|
|
rs141945020 CA7731646 |
130 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731645 rs759649376 |
131 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA274617572 rs865803419 |
132 | S>N | No |
ClinGen Ensembl |
|
|
rs1408549160 CA393798535 |
133 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1196632081 CA393798503 |
138 | V>I | No |
ClinGen TOPMed |
|
|
CA7731644 rs776965284 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7731643 rs145360414 |
140 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393798485 rs1567162031 |
141 | G>A | No |
ClinGen Ensembl |
|
|
rs747330118 CA7731642 |
142 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274617561 rs748746514 |
144 | G>D | No |
ClinGen Ensembl |
|
|
CA7731639 rs748744285 |
147 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235343537 CA393798447 |
148 | P>A | No |
ClinGen gnomAD |
|
|
rs375782169 CA7731636 |
149 | D>N | Variant assessed as Somatic; 9.288e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs766752247 | 149 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216902191 CA393798434 |
150 | I>V | No |
ClinGen gnomAD |
|
|
CA393798414 rs1306018873 |
152 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 153 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370927385 CA7731634 |
156 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781388545 CA274617479 |
156 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 159 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7731632 rs570722845 |
159 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7731630 rs376358699 |
160 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1330961015 CA393798349 |
163 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393798334 rs1289262975 |
165 | H>R | No |
ClinGen TOPMed |
|
|
rs753899647 CA7731626 |
169 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs202120635 CA274617428 |
171 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA393798295 rs1452063758 |
172 | K>Q | No |
ClinGen TOPMed |
|
|
rs1596170184 CA393798283 |
173 | D>A | No |
ClinGen Ensembl |
|
|
CA7731625 rs760896768 |
173 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393798286 rs1470304197 |
173 | D>N | No |
ClinGen gnomAD |
|
|
rs1202386716 CA393798277 |
174 | S>N | No |
ClinGen gnomAD |
|
|
CA393798270 rs1274504083 |
175 | Q>* | No |
ClinGen gnomAD |
|
|
CA393798268 rs1596170161 |
175 | Q>R | No |
ClinGen Ensembl |
|
|
CA7731622 rs772490642 |
177 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs147870602 CA274617401 |
179 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147870602 CA7731621 |
179 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731620 rs774971029 |
180 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7731619 COSM250837 rs748766763 |
180 | S>R | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA393798231 rs1567161939 |
180 | S>T | No |
ClinGen Ensembl |
|
|
CA274617388 rs866403202 |
181 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1211934386 CA393798224 |
181 | E>V | No |
ClinGen gnomAD |
|
|
rs1596170141 CA393798216 |
182 | F>C | No |
ClinGen Ensembl |
|
|
CA393798213 rs1162063396 |
183 | E>K | No |
ClinGen TOPMed |
|
|
CA393798205 rs1284804289 |
184 | G>R | No |
ClinGen gnomAD |
|
|
rs745584721 CA7731615 |
186 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA393798182 rs1303625448 |
187 | A>T | No |
ClinGen gnomAD |
|
|
rs781106889 CA7731614 |
187 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393798155 rs1596170126 |
189 | D>A | No |
ClinGen Ensembl |
|
|
rs1163794404 CA619546210 |
189 | D>G | No |
ClinGen gnomAD |
|
|
rs527736294 CA7731613 |
189 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393798145 rs1355140632 |
190 | L>P | No |
ClinGen gnomAD |
|
|
CA7731611 rs148796695 |
191 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148796695 CA393798135 |
191 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731610 rs148796695 |
191 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731608 rs766501068 |
194 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs201704361 CA7731607 COSM1375381 |
195 | R>C | Variant assessed as Somatic; 0.000188 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7731606 rs750682257 |
195 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393798096 rs750682257 |
195 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393798094 rs1450589324 |
196 | S>G | No |
ClinGen gnomAD |
|
|
rs762188763 CA7731605 |
196 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731603 rs547177823 |
198 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596170090 CA393798064 |
198 | Y>D | No |
ClinGen Ensembl |
|
|
rs547177823 CA7731602 |
198 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731601 rs763429233 |
199 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393798048 rs1226661128 |
199 | M>T | No |
ClinGen gnomAD |
|
|
rs763429233 CA393798053 |
199 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349874474 CA393798028 |
201 | G>S | No |
ClinGen gnomAD |
|
|
CA393798016 rs1283993032 |
202 | N>D | No |
ClinGen gnomAD |
|
|
CA7731600 rs775137582 |
202 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769471292 CA7731599 |
203 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1292772894 CA393797990 |
204 | R>I | No |
ClinGen gnomAD |
|
|
rs1454087553 CA393797988 |
204 | R>S | No |
ClinGen gnomAD |
|
|
CA393797991 rs1292772894 |
204 | R>T | No |
ClinGen gnomAD |
|
|
rs745496834 CA7731598 |
205 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA393797082 rs1596169708 |
206 | V>G | No |
ClinGen Ensembl |
|
|
CA7731567 rs751771503 |
206 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA274616850 rs1009068546 |
207 | V>A | No |
ClinGen Ensembl |
|
|
CA7731566 rs371453193 |
207 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7731564 rs753145295 |
209 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393797046 rs1372911158 |
210 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393797040 rs1218196566 |
210 | T>I | No |
ClinGen TOPMed |
|
|
rs1372911158 CA393797044 |
210 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393797025 rs1449196411 |
212 | M>I | No |
ClinGen gnomAD |
|
|
CA7731561 rs776187512 |
214 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1183061 rs760341307 CA7731559 |
218 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7731558 rs772787173 |
219 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393796947 rs1236013690 |
220 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs867131915 CA274616821 |
222 | P>L | No |
ClinGen Ensembl |
|
|
CA393796901 rs1484012651 |
225 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774136852 CA7731555 |
227 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs995838833 CA274616812 |
228 | A>S | No |
ClinGen TOPMed |
|
|
rs995838833 CA393796869 |
228 | A>T | No |
ClinGen TOPMed |
|
|
rs1242225055 CA393796862 |
228 | A>V | No |
ClinGen gnomAD |
|
|
rs770967269 CA7731551 |
229 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs781303509 CA7731552 |
229 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA7731553 rs749291581 |
229 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393796859 rs749291581 |
229 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408411355 CA393796832 |
231 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7731549 rs375160446 |
232 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393796787 rs1338821581 |
234 | N>K | No |
ClinGen gnomAD |
|
|
CA393796790 rs1173509041 |
234 | N>S | No |
ClinGen TOPMed |
|
|
rs758702174 CA7731548 |
235 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391987351 CA393796784 |
235 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755534306 CA7731545 |
236 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755534306 CA7731546 |
236 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA274616715 rs770522220 |
237 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393796768 rs770522220 |
237 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1249534321 CA393796754 |
238 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1288335253 CA393796749 |
239 | H>N | No |
ClinGen TOPMed |
|
|
rs754340111 CA7731544 |
239 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1490488301 CA393796740 |
240 | P>T | No |
ClinGen TOPMed gnomAD |
|
| VAR_006727 | 242 | D>Y | No | UniProt | |
|
rs1276964858 CA393796705 |
243 | L>M | No |
ClinGen TOPMed |
|
| VAR_006728 | 243 | L>P | No | UniProt | |
|
CA393796692 rs1260900034 |
244 | T>I | No |
ClinGen gnomAD |
|
|
CA393796664 rs1229714472 |
248 | N>H | No |
ClinGen gnomAD |
|
|
CA393796656 rs1348020537 |
248 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393796646 rs1181343848 |
249 | M>T | No |
ClinGen TOPMed |
|
|
rs1482145055 CA393796649 |
249 | M>V | No |
ClinGen TOPMed |
|
|
CA393796621 rs1233451329 |
252 | K>Q | No |
ClinGen TOPMed |
|
|
rs749978971 CA7731541 |
253 | G>S | No |
ClinGen ExAC |
|
|
rs370085507 CA7731514 |
254 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463301197 CA393796556 |
255 | S>N | No |
ClinGen gnomAD |
|
|
CA393796552 rs1246988952 |
255 | S>R | No |
ClinGen gnomAD |
|
|
rs759579694 CA7731513 |
256 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA393796534 rs1448514659 |
257 | P>L | No |
ClinGen TOPMed |
|
|
CA7731512 rs773416610 |
257 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs146926671 CA7731510 RCV000888713 |
258 | L>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7731509 rs774663367 |
263 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7731508 rs769028199 |
263 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs749547497 CA7731507 |
266 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274616555 rs978793037 |
268 | E>G | No |
ClinGen Ensembl |
|
|
rs1394194466 CA393796421 |
268 | E>K | No |
ClinGen TOPMed |
|
|
rs1328350008 CA393796379 |
271 | T>I | No |
ClinGen TOPMed |
|
|
rs746428295 CA7731504 |
272 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs756566068 CA7731505 |
272 | T>S | No |
ClinGen ExAC |
|
|
rs368070845 CA7731502 |
274 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170289345 CA393796345 |
275 | M>T | No |
ClinGen gnomAD |
|
|
rs751103479 CA7731501 |
277 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752425875 CA7731497 |
283 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs776755622 CA7731493 |
286 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1468864969 CA393796160 |
286 | E>G | No |
ClinGen TOPMed |
|
|
CA393796171 rs373366705 |
286 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA274616504 rs373366705 |
286 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1215271506 CA393796151 |
287 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370685507 CA7731491 |
288 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731490 rs774575427 |
290 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138545632 CA7731489 |
291 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393796019 rs749581855 |
294 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7731488 rs749581855 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7731486 rs770244062 |
296 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs566665242 CA7731470 |
301 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274616168 rs917678782 |
301 | R>W | No |
ClinGen gnomAD |
|
|
CA274616151 rs1009279895 |
303 | W>S | No |
ClinGen TOPMed |
|
|
CA393795795 rs1156293349 |
304 | A>V | No |
ClinGen gnomAD |
|
|
CA7731467 rs373113395 |
305 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731468 rs759830496 |
305 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs886478395 CA274616137 |
306 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1489639295 CA393795779 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA7731466 rs771412086 |
307 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368916420 CA7731465 |
309 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1025516664 CA393795728 |
310 | A>E | No |
ClinGen TOPMed |
|
|
CA7731464 rs777111658 |
310 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025516664 CA274616120 |
310 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7731461 VAR_031263 rs17240268 |
311 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7731457 rs141811394 |
313 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750426042 CA7731456 |
313 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs148047449 COSM1375380 CA7731454 |
314 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765440489 CA7731453 |
315 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731452 rs765440489 |
315 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731451 rs759809508 |
316 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393795658 rs1177346686 |
317 | A>S | No |
ClinGen gnomAD |
|
|
CA393795648 rs1241811321 |
318 | L>P | No |
ClinGen TOPMed |
|
|
rs773723918 CA7731447 |
320 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_031264 COSM702152 CA7731446 rs8179199 |
321 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA393795620 rs1188636869 |
321 | T>S | No |
ClinGen TOPMed |
|
|
CA274616035 rs1039228489 |
323 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 323 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158113435 CA393795585 |
324 | I>M | No |
ClinGen TOPMed |
|
|
rs778301741 CA7731444 |
326 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA274616032 rs942163779 |
326 | N>K | No |
ClinGen Ensembl |
|
|
CA7731443 rs200899610 |
327 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1047986917 CA274616022 |
329 | A>D | No |
ClinGen Ensembl |
|
|
CA393795536 rs749017463 |
329 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7731442 rs749017463 |
329 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA393795524 rs1179888706 |
330 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1179888706 CA393795523 |
330 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201350251 CA7731441 |
331 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228821310 COSM3361587 CA393795488 |
333 | D>E | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs917558799 CA274616021 |
334 | T>I | No |
ClinGen Ensembl |
|
|
CA393795471 rs1354310634 |
335 | P>L | No |
ClinGen TOPMed |
|
|
CA274616009 rs979245800 |
338 | L>I | No |
ClinGen Ensembl |
|
|
rs1304055766 CA393795428 |
339 | P>Q | No |
ClinGen gnomAD |
|
|
rs570661317 CA274615964 |
340 | K>N | No |
ClinGen 1000Genomes |
|
|
CA393795359 rs1241173239 |
343 | Q>* | No |
ClinGen gnomAD |
|
|
rs201835756 CA393795351 |
344 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201835756 CA7731412 |
344 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274615823 rs929579525 |
347 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA393795308 rs1182896667 |
348 | D>E | No |
ClinGen gnomAD |
|
|
CA393795317 rs1440676727 |
348 | D>N | No |
ClinGen TOPMed |
|
|
CA7731411 rs762350451 |
349 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393795282 rs372707879 |
350 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249395554 CA393795287 |
350 | N>S | No |
ClinGen gnomAD |
|
|
CA393795278 rs367926309 |
351 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367926309 CA274615809 |
351 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731409 rs367926309 |
351 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301609648 CA393795272 |
351 | A>V | No |
ClinGen TOPMed |
|
|
CA393795269 rs775151974 |
352 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731407 rs775151974 |
352 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896710613 CA274615803 |
353 | A>T | No |
ClinGen gnomAD |
|
|
CA274615802 rs898376889 |
354 | M>V | No |
ClinGen TOPMed |
|
|
rs776452402 CA393795215 |
356 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770677086 CA7731403 |
357 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596168859 CA393795182 |
359 | L>P | No |
ClinGen Ensembl |
|
|
CA7731401 rs777652115 |
361 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393795162 rs1417320487 |
361 | T>I | No |
ClinGen gnomAD |
|
|
rs749311911 CA7731399 |
362 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141631662 CA7731397 COSM434526 |
363 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147069406 CA7731398 |
363 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393795112 rs1451899546 |
364 | E>A | No |
ClinGen gnomAD |
|
|
rs1180833838 CA393795120 |
364 | E>Q | No |
ClinGen gnomAD |
|
|
CA274615747 rs374297472 |
370 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs147889608 CA7731394 |
370 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1286894820 CA393794998 |
371 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1286894820 CA393795004 |
371 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763610042 CA7731391 |
376 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550682152 CA7731390 |
377 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7731389 rs764877425 |
377 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs112384629 CA7731387 |
381 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731386 rs770652741 |
381 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs112384629 COSM1245126 CA7731388 |
381 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA393794774 rs1382702066 |
385 | V>L | No |
ClinGen gnomAD |
|
|
CA393794778 rs1382702066 |
385 | V>M | No |
ClinGen gnomAD |
|
|
CA7731385 rs367852979 |
386 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731384 rs773006801 |
389 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 390 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 391 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748152165 CA7731382 COSM702154 |
392 | H>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7731381 rs780077525 |
393 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7731339 rs747104767 |
394 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs747104767 CA393794518 |
394 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA393794516 rs747104767 |
394 | W>S | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs772424459 CA7731337 |
396 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA7731336 rs748469802 |
397 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272491928 CA393794379 |
401 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7731331 rs755574687 |
401 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA393794377 rs1318179789 |
402 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1318179789 CA393794374 |
402 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA393794306 TCGA novel rs749967120 |
404 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA ExAC gnomAD |
|
CA393794312 rs1439750324 |
404 | W>* | No |
ClinGen TOPMed |
|
|
rs749967120 CA7731330 |
404 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs760425265 CA274615275 |
405 | N>H | No |
ClinGen Ensembl |
|
|
rs1236054643 CA393794280 |
406 | D>E | No |
ClinGen TOPMed |
|
|
COSM966414 rs756960671 CA7731327 |
411 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393794211 rs1442350744 |
412 | G>S | No |
ClinGen gnomAD |
|
|
CA7731325 rs183757710 |
414 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373183009 CA7731322 |
417 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267604377 CA274615226 |
418 | E>K | No |
ClinGen Ensembl |
|
|
rs1477153634 CA393794105 |
420 | L>V | No |
ClinGen gnomAD |
|
|
rs144282919 RCV000888712 CA7731319 |
422 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1413281284 CA393794061 |
423 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1596168463 CA393794065 |
423 | D>G | No |
ClinGen Ensembl |
|
|
CA7731317 rs762164247 |
424 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774552143 CA7731316 |
425 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1326239109 CA393794025 |
426 | E>A | No |
ClinGen TOPMed |
|
|
CA393793998 rs1369290633 |
428 | T>I | No |
ClinGen TOPMed |
|
|
COSM966413 CA7731314 rs749638276 |
429 | W>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753878057 CA7731284 |
433 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7731286 rs754936787 |
433 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731285 rs754936787 |
433 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766442499 CA7731283 |
435 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393793869 rs1323691484 |
436 | V>A | No |
ClinGen TOPMed |
|
|
rs1359585263 CA393793845 |
438 | N>K | No |
ClinGen Ensembl |
|
|
CA7731282 rs555461349 |
439 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450297820 CA393793818 |
440 | V>A | No |
ClinGen gnomAD |
|
|
rs371985741 CA7731281 |
441 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764320169 CA7731280 |
442 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7731279 rs142936100 |
442 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368364187 CA7731278 |
443 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368364187 CA7731277 |
443 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759915782 CA274615058 |
445 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759915782 CA7731276 |
445 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393793755 rs1308866188 |
446 | V>M | No |
ClinGen gnomAD |
|
|
CA274615031 rs1002357223 |
452 | S>P | No |
ClinGen TOPMed |
|
|
CA393793662 rs1281648530 |
453 | H>P | No |
ClinGen Ensembl |
|
|
rs200722247 CA7731271 |
454 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374952183 CA393793612 |
457 | T>I | No |
ClinGen gnomAD |
|
|
CA7731267 rs749127105 |
458 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731264 rs545081233 |
459 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731265 rs545081233 |
459 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1190054725 CA393793592 |
459 | A>V | No |
ClinGen gnomAD |
|
|
CA7731263 rs764118324 |
460 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764118324 CA393793582 |
460 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731261 rs752866700 |
463 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA7731260 rs765473554 |
464 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759825959 CA7731259 |
464 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7731257 rs761155590 |
465 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7731255 rs377426081 |
465 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731254 rs377426081 |
465 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731256 rs761155590 |
465 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA393793518 rs1354067908 |
466 | A>T | No |
ClinGen gnomAD |
|
|
CA7731250 TCGA novel rs148567888 |
467 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA393793506 rs1312675357 |
467 | Q>K | No |
ClinGen gnomAD |
|
|
rs779772738 CA7731249 |
468 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1296735239 CA393793475 |
469 | S>T | No |
ClinGen gnomAD |
|
|
CA7731247 rs553551016 |
473 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7731246 rs781212553 |
474 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758432715 CA7731245 |
474 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 476 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371398651 CA274614944 CA7731241 |
478 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA7731242 rs755248559 |
478 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7731205 rs756373551 |
480 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7731204 rs781733489 |
481 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781733489 CA7731203 |
481 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393793007 rs1419732388 |
484 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7731198 rs757779516 |
493 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7731199 COSM1708535 rs528646801 |
493 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs567487315 CA274613822 |
494 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187980947 CA7731196 |
495 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731195 rs531194148 |
498 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7731192 rs139342584 |
501 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731194 rs776256222 |
501 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7731193 rs139342584 |
501 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731168 rs769968057 |
503 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731164 rs200253292 |
505 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201577768 CA7731166 |
505 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194346305 CA393792680 |
506 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778343745 CA7731163 |
506 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1194346305 CA393792678 |
506 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1294281202 CA393792654 |
508 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7731160 rs779307728 |
510 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754474440 CA7731159 |
511 | N>S | No |
ClinGen ExAC |
|
|
CA393792591 rs1286107537 |
512 | T>I | No |
ClinGen gnomAD |
|
|
CA7731157 rs753353785 |
514 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731156 rs779629431 |
515 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs965033899 CA393792563 |
516 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1436433652 CA393792552 |
518 | W>S | No |
ClinGen gnomAD |
|
|
CA274613626 rs1018446756 |
521 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 522 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 523 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755732462 CA7731136 |
524 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs373716144 CA274612280 |
525 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs373716144 CA393792264 |
525 | V>G | No |
ClinGen ESP TOPMed |
|
|
CA393792273 rs1487903587 |
525 | V>M | No |
ClinGen gnomAD |
|
|
rs750126909 CA7731135 |
527 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7731134 rs201349020 |
527 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393792203 rs751323501 |
528 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs751323501 CA7731132 |
528 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757008299 CA7731133 |
528 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274612262 rs902914869 |
529 | S>T | No |
ClinGen Ensembl |
|
|
rs764078082 CA7731131 |
531 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA274612259 rs568810881 |
533 | P>S | No |
ClinGen gnomAD |
|
|
rs1285452145 CA393792102 |
535 | T>I | No |
ClinGen TOPMed |
|
|
rs763050446 CA7731130 |
535 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7731127 rs760857085 |
536 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7731126 rs139863277 |
537 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393792077 rs762182681 |
537 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA7731124 rs762182681 |
537 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7731125 rs139863277 |
537 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs540893220 CA393792067 |
538 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540893220 CA7731123 |
538 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393792072 rs1462666340 |
538 | D>N | No |
ClinGen gnomAD |
|
|
CA393792022 rs1168367754 |
540 | M>V | No |
ClinGen gnomAD |
|
|
rs145940069 CA7731122 |
542 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370456207 CA7731121 |
542 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370456207 CA393791978 |
542 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731119 rs769247114 |
543 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs780838171 CA7731117 |
544 | T>I | No |
ClinGen ExAC |
|
|
CA7731118 rs745385335 |
544 | T>S | No |
ClinGen ExAC |
|
|
rs1028569349 CA274612197 |
546 | Q>* | No |
ClinGen TOPMed |
|
|
rs756917232 CA7731116 |
547 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196069965 CA393791868 |
549 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746814863 CA7731115 |
550 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731112 rs371639363 |
553 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393791785 rs1235677981 |
554 | V>L | No |
ClinGen gnomAD |
|
|
CA393791728 rs1339120057 |
557 | S>N | No |
ClinGen gnomAD |
|
|
rs756199154 CA7731110 |
558 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377108670 CA7731108 |
559 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222082291 CA393791685 |
560 | T>A | No |
ClinGen TOPMed |
|
|
rs373181522 CA393791638 |
563 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373181522 CA7731106 |
563 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7731105 rs546399148 |
564 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
rs1459779187 COSM288316 CA393791604 |
565 | H>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1024519740 CA274612118 |
565 | H>R | No |
ClinGen Ensembl |
|
|
CA393791581 rs1215246402 |
566 | F>L | No |
ClinGen gnomAD |
|
|
CA393791114 rs1364256395 |
567 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA393791107 rs1367726565 |
568 | L>F | No |
ClinGen gnomAD |
|
|
CA7731103 rs775937784 |
570 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393791077 rs775937784 |
570 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200223672 CA7731101 |
571 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200223672 COSM1517864 CA7731100 |
571 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs200223672 CA393791065 |
571 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731099 rs770587300 |
573 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393791022 rs1274476184 |
574 | V>I | No |
ClinGen gnomAD |
|
|
CA393791013 rs1596166708 |
575 | T>P | No |
ClinGen Ensembl |
|
|
CA7731098 rs746685166 |
576 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM254533 rs369285131 CA7731097 |
576 | R>H | lung urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs369285131 CA274612045 |
576 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369285131 CA7731096 |
576 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393791002 rs1265259735 |
577 | P>A | No |
ClinGen gnomAD |
|
|
CA7731095 rs376697775 |
578 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 579 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393790972 rs1318969421 |
579 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1338071788 CA393790981 |
579 | E>Q | No |
ClinGen TOPMed |
|
|
rs758683332 CA7731069 |
583 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201255326 CA393790853 |
583 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7731070 rs201255326 |
583 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393790824 rs1404213396 |
585 | I>T | No |
ClinGen TOPMed |
|
|
rs1396442039 CA393790795 |
588 | I>L | No |
ClinGen gnomAD |
|
|
CA393790770 rs1477442436 |
589 | T>I | No |
ClinGen gnomAD |
|
|
CA7731066 rs572194006 |
592 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1449211731 CA393790715 |
593 | D>V | No |
ClinGen gnomAD |
|
|
CA393790695 COSM966409 rs1384882302 |
595 | R>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs368618339 CA274611661 |
596 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs754258471 CA7731065 |
596 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs887149204 CA274611657 |
599 | D>N | No |
ClinGen Ensembl |
|
|
rs1216288741 CA393790615 |
600 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs17240212 VAR_031265 CA7731064 |
603 | I>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
VAR_031266 CA7731063 rs8192297 |
603 | I>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA393790572 rs17240212 |
603 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1596166497 CA393790576 |
603 | I>V | No |
ClinGen Ensembl |
|
|
CA7731062 rs140909814 |
605 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393790550 rs140909814 |
605 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393790538 rs1270826273 |
606 | R>T | No |
ClinGen gnomAD |
|
|
rs1180441931 CA393790398 |
607 | A>V | No |
ClinGen gnomAD |
|
|
CA393790394 rs1472595583 |
608 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA393790386 rs745851142 |
608 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393790370 rs1456553395 |
610 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 612 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7731034 rs772099201 |
613 | S>G | No |
ClinGen ExAC TOPMed |
|
|
rs778943415 CA7731032 |
614 | T>I | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 616 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393790255 rs1596165700 |
617 | N>K | No |
ClinGen Ensembl |
|
|
CA7731030 rs143245843 |
620 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1287503902 CA393790200 |
621 | L>P | No |
ClinGen gnomAD |
|
|
rs1567158374 CA393790150 |
625 | N>S | No |
ClinGen Ensembl |
|
|
CA7731028 rs149131671 |
627 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393790121 rs149131671 |
627 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393790114 rs1169626578 |
628 | G>D | No |
ClinGen TOPMed |
|
|
rs1178097724 CA393790118 |
628 | G>S | No |
ClinGen gnomAD |
|
|
COSM966407 rs762703807 CA7731022 |
631 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763647069 CA7731023 |
631 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731021 rs775122528 |
633 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA393790017 rs753539774 |
634 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7731018 rs776484276 |
635 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs774559825 COSM172920 CA7731016 |
636 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7731015 rs774559825 |
636 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs768731006 CA7731014 |
637 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA393789958 rs1435812431 |
637 | E>G | No |
ClinGen TOPMed |
|
|
rs1379786089 CA393789929 |
638 | N>I | No |
ClinGen gnomAD |
|
|
CA7731013 rs538081784 |
640 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7731010 rs746242217 |
643 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs756511878 CA7731011 |
643 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs558022364 CA7731008 |
646 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393789742 rs1352479878 |
647 | Q>* | No |
ClinGen gnomAD |
|
|
rs1303511883 CA393789711 |
648 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs8179192 CA7731006 |
651 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482042872 CA393788703 |
654 | P>S | No |
ClinGen gnomAD |
|
|
rs755535670 CA393788681 |
655 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755535670 CA7730975 |
655 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759883988 CA7730974 |
656 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777013681 CA7730973 |
657 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA393788631 rs771378829 |
657 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730972 rs771378829 |
657 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357374866 CA393788616 |
658 | R>Q | No |
ClinGen TOPMed |
|
|
CA274608461 rs866441038 COSM3690609 |
658 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 660 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747335193 CA7730971 |
661 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs778283757 CA7730970 |
662 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730966 rs374140510 |
665 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7730967 rs374140510 |
665 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393788367 rs913786074 |
669 | A>G | No |
ClinGen gnomAD |
|
|
rs913786074 CA274608442 |
669 | A>V | No |
ClinGen gnomAD |
|
|
CA393788342 rs1287364798 |
670 | S>N | No |
ClinGen TOPMed |
|
|
CA393788010 rs1466733414 |
671 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 672 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780892745 CA7730942 |
673 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs1377986554 CA393787932 |
675 | P>S | No |
ClinGen gnomAD |
|
|
rs373325407 CA7730940 |
679 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369054571 CA7730937 |
682 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 689 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398785726 CA393787635 |
690 | R>G | No |
ClinGen TOPMed |
|
|
rs905279202 CA274607308 |
690 | R>T | No |
ClinGen TOPMed |
|
|
rs1356071678 CA393787609 |
691 | Q>* | No |
ClinGen gnomAD |
|
|
CA7730934 rs773603314 |
691 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1325171468 CA393787598 |
691 | Q>R | No |
ClinGen TOPMed |
|
|
rs762220968 CA274607303 |
692 | Y>C | No |
ClinGen Ensembl |
|
|
rs1239444162 CA393787564 |
693 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1331741490 CA393787558 |
693 | M>T | No |
ClinGen gnomAD |
|
|
rs1239444162 CA393787566 |
693 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1325517752 CA393787535 |
694 | P>T | No |
ClinGen gnomAD |
|
|
CA393787507 rs1596164742 |
695 | W>L | No |
ClinGen Ensembl |
|
|
CA7730933 rs767726883 |
696 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1442847777 CA393787461 |
697 | A>S | No |
ClinGen TOPMed |
|
|
CA7730931 rs774774043 |
698 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759399052 CA274607295 |
700 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 703 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774934525 CA7730928 |
704 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs748787586 CA7730929 |
704 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA274607290 rs538288039 COSM4151195 |
705 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs1455792161 CA393787307 |
706 | K>N | No |
ClinGen gnomAD |
|
|
CA274607288 rs894073606 |
706 | K>Q | No |
ClinGen Ensembl |
|
|
CA7730927 rs769460073 |
706 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754269201 CA274607284 |
708 | M>K | No |
ClinGen Ensembl |
|
|
CA393787292 rs1367136839 |
708 | M>L | No |
ClinGen gnomAD |
|
|
rs1454388290 CA393787268 |
709 | F>S | No |
ClinGen gnomAD |
|
|
CA393787256 rs1596164707 |
710 | D>H | No |
ClinGen Ensembl |
|
|
CA7730926 COSM1189098 rs745559341 |
711 | R>C | lung central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA274607279 rs182672249 COSM197834 |
711 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs780926154 CA274607274 |
712 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780926154 CA7730925 |
712 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274607277 rs199877769 |
712 | S>P | No |
ClinGen Ensembl |
|
|
CA7730923 rs746810178 |
713 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393787098 rs1474278111 |
715 | Y>C | No |
ClinGen TOPMed |
|
|
CA274607265 rs1042550 |
716 | G>C | No |
ClinGen Ensembl |
|
|
rs780044759 CA7730919 |
717 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 720 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393785045 rs1172059917 |
720 | N>I | No |
ClinGen gnomAD |
|
|
rs201075004 CA274605232 |
723 | K>R | No |
ClinGen 1000Genomes |
|
|
rs751893028 CA393784824 |
732 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751893028 CA7730894 |
732 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 736 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393784709 rs1239493191 |
737 | T>I | No |
ClinGen gnomAD |
|
|
CA393784688 rs1185690746 |
738 | N>K | No |
ClinGen gnomAD |
|
|
CA393784633 rs1460963440 |
741 | R>G | No |
ClinGen gnomAD |
|
|
rs368682476 CA274605204 |
742 | E>D | No |
ClinGen ESP |
|
|
rs1567155627 CA393784597 |
742 | E>Q | No |
ClinGen Ensembl |
|
|
CA393784580 rs1226228894 |
743 | I>N | No |
ClinGen gnomAD |
|
|
rs372230499 CA393784488 |
746 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867044637 CA274605183 |
749 | D>N | No |
ClinGen Ensembl |
|
|
CA393784371 rs1228614746 |
750 | Q>E | No |
ClinGen gnomAD |
|
|
rs1424269557 CA393784193 |
750 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7730890 rs765785156 |
750 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1596161907 CA393784182 |
751 | Y>D | No |
ClinGen Ensembl |
|
|
VAR_014737 CA7730866 rs25651 |
752 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1803098 CA274604909 |
753 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7730863 rs767290795 |
753 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1803098 CA7730864 |
753 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478938139 CA393784086 |
754 | V>D | No |
ClinGen gnomAD |
|
|
rs1478938139 CA393784081 |
754 | V>G | No |
ClinGen gnomAD |
|
|
CA393784016 rs1469700898 |
757 | I>V | No |
ClinGen gnomAD |
|
|
rs1596161871 CA393783929 |
759 | T>P | No |
ClinGen Ensembl |
|
|
CA7730860 rs768450800 |
760 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749298920 COSM1517865 CA7730859 |
763 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs8179195 CA7730857 |
764 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370277497 CA393783806 |
765 | V>I | No |
ClinGen gnomAD |
|
|
rs148410109 COSM69671 CA7730856 |
766 | P>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs777954913 CA7730855 |
767 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA274604868 rs757221706 |
769 | E>Q | No |
ClinGen gnomAD |
|
|
rs748428640 CA7730853 |
771 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7730852 rs374584607 |
774 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755320452 CA393783644 |
775 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7730851 rs755320452 |
775 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1416103875 CA393783620 |
776 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397225484 CA393783540 |
780 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 781 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198597679 CA393783523 |
781 | E>G | No |
ClinGen gnomAD |
|
|
CA7730850 rs149334449 |
781 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766998381 CA7730849 |
782 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397433204 CA393783488 |
783 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7730848 rs371057081 |
783 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA274604835 rs1027724629 |
784 | N>D | No |
ClinGen TOPMed |
|
|
CA393783452 rs1596161809 |
786 | N>T | No |
ClinGen Ensembl |
|
|
COSM1608822 CA7730846 rs201639683 |
787 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750013316 CA7730847 |
787 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7730822 rs373190710 |
790 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393783379 rs1476692994 |
790 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 791 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7730821 rs752551659 |
792 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393783354 rs1329210757 |
792 | L>P | No |
ClinGen gnomAD |
|
|
rs759517288 CA7730819 |
793 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7730820 rs765125618 |
793 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1421634823 CA393783332 |
794 | S>C | No |
ClinGen gnomAD |
|
|
rs1166529334 CA393783342 |
794 | S>P | No |
ClinGen gnomAD |
|
|
CA393783321 rs1567155090 |
795 | T>I | No |
ClinGen Ensembl |
|
|
rs369616479 CA7730815 |
796 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1194577799 CA393783304 |
797 | Y>C | No |
ClinGen gnomAD |
|
|
rs1266353225 CA393783278 |
799 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201569062 CA274604724 |
800 | A>P | No |
ClinGen gnomAD |
|
|
rs201569062 CA393783268 |
800 | A>T | No |
ClinGen gnomAD |
|
|
CA274604721 rs867698719 |
801 | I>V | No |
ClinGen TOPMed |
|
|
rs1314484079 CA393783251 |
802 | A>S | No |
ClinGen gnomAD |
|
|
CA393783254 COSM1179024 rs1314484079 |
802 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7730813 rs147195383 |
802 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1596161642 CA393783234 |
803 | Q>H | No |
ClinGen Ensembl |
|
|
CA274604703 rs200088948 |
804 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393783231 rs1234954065 |
804 | G>S | No |
ClinGen TOPMed |
|
|
CA7730811 rs200088948 |
804 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781584838 CA7730809 |
805 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756723087 CA7730808 |
805 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777473328 CA7730805 |
807 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1263228534 CA393783185 |
808 | E>Q | No |
ClinGen TOPMed |
|
|
CA7730804 rs143594116 |
810 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752463888 CA7730803 |
810 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 811 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393783137 rs759355791 |
812 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM278877 CA7730801 rs759355791 |
812 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393783112 rs1237478129 |
814 | E>Q | No |
ClinGen TOPMed |
|
|
CA7730800 rs753742759 |
815 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1475802462 CA393783085 |
816 | F>Y | No |
ClinGen TOPMed |
|
|
CA7730799 COSM3944319 rs375864084 |
817 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7730798 rs761940059 |
817 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371279869 CA7730797 |
819 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7730796 rs371279869 |
819 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393783041 rs1356006108 |
821 | L>P | No |
ClinGen gnomAD |
|
|
rs763317631 CA7730795 |
821 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274604586 rs1013186337 |
826 | D>E | No |
ClinGen TOPMed |
|
|
CA393782982 rs1376171925 |
826 | D>N | No |
ClinGen Ensembl |
|
|
CA393782956 rs746242192 |
828 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7730792 rs746242192 |
828 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs375147227 CA393782946 |
829 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375147227 CA7730789 |
829 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200752447 CA7730790 |
829 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374973310 CA393782945 |
830 | A>P | No |
ClinGen gnomAD |
|
|
rs1567154962 CA393782895 |
834 | C>F | No |
ClinGen Ensembl |
|
| rs1567154961 | 836 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7730787 rs757923412 |
837 | E>K | No |
ClinGen ExAC |
|
|
CA7730785 rs778540385 |
840 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs754709858 CA393782786 |
842 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015507523 CA274604555 |
843 | R>K | No |
ClinGen Ensembl |
|
|
CA7730762 rs750290072 |
845 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7730761 rs767570451 |
848 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372938510 CA274602733 |
848 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA7730758 rs765520167 |
851 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752887360 CA7730759 |
851 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778063366 CA274602725 |
852 | D>A | No |
ClinGen TOPMed |
|
|
rs1015428579 CA274602722 |
852 | D>E | No |
ClinGen Ensembl |
|
|
CA7730756 rs776930737 |
854 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730754 rs761103812 |
855 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730755 rs369201239 COSM1375371 |
855 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1167605717 CA393781937 |
859 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 859 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7730752 rs772625359 |
860 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393781897 rs1213792609 |
863 | I>V | No |
ClinGen TOPMed |
|
|
rs773892132 CA7730750 |
864 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1238793112 CA393781875 |
864 | I>M | No |
ClinGen gnomAD |
|
|
CA274602702 rs756105308 |
866 | I>N | No |
ClinGen Ensembl |
|
|
rs768277577 CA7730749 |
868 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393781810 rs1271967195 |
869 | N>I | No |
ClinGen gnomAD |
|
|
rs781008050 CA7730747 |
870 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312291310 CA393781790 |
871 | I>T | No |
ClinGen gnomAD |
|
|
CA7730745 rs745692624 |
875 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7730744 rs781266711 |
876 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1245127 rs1353143276 CA393781715 |
878 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs752797827 CA7730742 |
880 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730741 COSM702157 rs200383502 |
881 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA393781666 rs1367752673 |
882 | S>G | No |
ClinGen gnomAD |
|
|
CA274602677 rs144085303 |
883 | N>K | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA7730740 rs376323078 |
884 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393781619 rs1374167446 |
885 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 889 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201439023 | 889 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201439023 CA393781554 |
889 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393781543 rs1468503079 |
890 | D>A | No |
ClinGen gnomAD |
|
|
CA393781545 rs1468503079 |
890 | D>G | No |
ClinGen gnomAD |
|
|
rs766635145 CA7730737 |
890 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730703 rs746812140 |
891 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1356435289 COSM1189097 CA393781460 |
891 | Y>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs749297050 CA7730701 |
892 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7730700 rs749297050 |
892 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs756198835 CA7730698 |
895 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756198835 CA7730697 |
895 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257202279 CA393781397 |
896 | F>L | No |
ClinGen TOPMed |
|
|
CA393781390 rs1443216557 |
897 | S>F | No |
ClinGen TOPMed |
|
|
CA393781394 rs1418068980 |
897 | S>P | No |
ClinGen gnomAD |
|
|
rs1189465946 CA393781386 |
898 | F>Y | No |
ClinGen gnomAD |
|
|
CA393781377 rs1175373592 |
899 | S>Y | No |
ClinGen gnomAD |
|
|
CA393781375 rs1596160426 |
900 | N>H | No |
ClinGen Ensembl |
|
|
rs757565877 CA7730695 |
900 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484644318 CA393781360 |
900 | N>K | No |
ClinGen gnomAD |
|
|
CA7730694 rs757565877 |
900 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393781363 rs757565877 |
900 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730691 rs759006687 |
905 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393781270 rs1237508248 |
907 | R>* | No |
ClinGen gnomAD |
|
|
rs753161909 CA7730690 |
908 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393781261 rs753161909 |
908 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 909 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051223150 CA274602380 |
912 | E>* | No |
ClinGen gnomAD |
|
|
CA393781156 rs1261673908 |
912 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393781172 rs1051223150 COSM702158 |
912 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 913 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770031010 CA274602378 |
913 | Y>C | No |
ClinGen Ensembl |
|
|
CA393781151 rs1596160391 |
913 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 916 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375796125 CA7730668 |
920 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373721139 CA274600003 |
923 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373721139 CA274600009 |
923 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA393779186 rs1460679411 |
924 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA393779135 rs1567152296 COSM966399 |
926 | E>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7730663 rs760462576 |
927 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760462576 CA7730664 |
927 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042598649 CA274599997 |
928 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393779026 rs370461277 |
931 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7730660 rs370461277 |
931 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175787517 CA393779003 |
933 | G>R | No |
ClinGen gnomAD |
|
|
rs774293028 CA7730659 |
934 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759578438 CA7730658 |
934 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730657 rs759578438 |
934 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393778967 rs199983054 |
935 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199983054 CA7730655 |
935 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141333670 CA7730656 |
935 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747191421 CA7730654 |
936 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747191421 CA393778945 |
936 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7730653 rs777892090 |
937 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7730651 rs201340495 |
938 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753385879 CA7730649 |
941 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779653299 CA7730647 |
942 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1596157940 CA393778855 |
943 | K>Q | No |
ClinGen Ensembl |
|
|
CA393778846 rs1596157935 |
943 | K>R | No |
ClinGen Ensembl |
|
|
CA7730646 rs376373199 |
944 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA274599895 COSM434525 rs376373199 |
944 | T>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759435344 CA274599885 |
945 | K>R | No |
ClinGen Ensembl |
|
|
CA393778793 rs1454775476 |
947 | N>T | No |
ClinGen gnomAD |
|
|
CA393778785 rs1256836843 |
948 | I>V | No |
ClinGen TOPMed |
|
|
rs1274570403 CA393778768 |
949 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 949 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393778742 rs1366127086 |
950 | W>* | No |
ClinGen gnomAD |
|
|
rs1157519374 CA393778709 |
952 | K>N | No |
ClinGen gnomAD |
|
|
CA7730644 rs529463540 |
957 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7730643 rs761643706 |
964 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393778561 rs1205855512 |
965 | N>S | No |
ClinGen gnomAD |
No associated diseases with P15144
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.11.2 | Aminopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum-Golgi intermediate compartment | A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| 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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| secretory granule membrane | The lipid bilayer surrounding a secretory granule. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. |
| metalloaminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| peptide binding | Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
| zinc ion binding | Binding to a zinc ion (Zn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| peptide catabolic process | The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40462 | TMA108 | Protein TMA108 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32454 | APE2 | Aminopeptidase 2, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P79171 | ANPEP | Aminopeptidase N | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q9UKU6 | TRHDE | Thyrotropin-releasing hormone-degrading ectoenzyme | Homo sapiens (Human) | PR |
| Q9UIQ6 | LNPEP | Leucyl-cystinyl aminopeptidase | Homo sapiens (Human) | PR |
| Q9NZ08 | ERAP1 | Endoplasmic reticulum aminopeptidase 1 | Homo sapiens (Human) | PR |
| P55786 | NPEPPS | Puromycin-sensitive aminopeptidase | Homo sapiens (Human) | PR |
| Q11011 | Npepps | Puromycin-sensitive aminopeptidase | Mus musculus (Mouse) | PR |
| Q8C129 | Lnpep | Leucyl-cystinyl aminopeptidase | Mus musculus (Mouse) | PR |
| Q8K093 | Trhde | Thyrotropin-releasing hormone-degrading ectoenzyme | Mus musculus (Mouse) | PR |
| Q9EQH2 | Erap1 | Endoplasmic reticulum aminopeptidase 1 | Mus musculus (Mouse) | PR |
| P97449 | Anpep | Aminopeptidase N | Mus musculus (Mouse) | PR |
| P15145 | ANPEP | Aminopeptidase N | Sus scrofa (Pig) | PR |
| Q10836 | Trhde | Thyrotropin-releasing hormone-degrading ectoenzyme | Rattus norvegicus (Rat) | PR |
| Q9JJ22 | Erap1 | Endoplasmic reticulum aminopeptidase 1 | Rattus norvegicus (Rat) | PR |
| P97629 | Lnpep | Leucyl-cystinyl aminopeptidase | Rattus norvegicus (Rat) | PR |
| P15684 | Anpep | Aminopeptidase N | Rattus norvegicus (Rat) | PR |
| Q0J5V5 | Os08g0398700 | Aminopeptidase M1-B | Oryza sativa subsp japonica (Rice) | PR |
| Q6Z6L4 | Os02g0218200 | Aminopeptidase M1-A | Oryza sativa subsp japonica (Rice) | PR |
| Q6K4E7 | Os09g0362800 | Aminopeptidase M1-D | Oryza sativa subsp japonica (Rice) | PR |
| Q17405 | AC3.5 | Aminopeptidase-like protein AC3.5 | Caenorhabditis elegans | PR |
| Q8VZH2 | APM1 | Aminopeptidase M1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKGFYISKS | LGILGILLGV | AAVCTIIALS | VVYSQEKNKN | ANSSPVASTT | PSASATTNPA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SATTLDQSKA | WNRYRLPNTL | KPDSYRVTLR | PYLTPNDRGL | YVFKGSSTVR | FTCKEATDVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IIHSKKLNYT | LSQGHRVVLR | GVGGSQPPDI | DKTELVEPTE | YLVVHLKGSL | VKDSQYEMDS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EFEGELADDL | AGFYRSEYME | GNVRKVVATT | QMQAADARKS | FPCFDEPAMK | AEFNITLIHP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KDLTALSNML | PKGPSTPLPE | DPNWNVTEFH | TTPKMSTYLL | AFIVSEFDYV | EKQASNGVLI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RIWARPSAIA | AGHGDYALNV | TGPILNFFAG | HYDTPYPLPK | SDQIGLPDFN | AGAMENWGLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TYRENSLLFD | PLSSSSSNKE | RVVTVIAHEL | AHQWFGNLVT | IEWWNDLWLN | EGFASYVEYL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GADYAEPTWN | LKDLMVLNDV | YRVMAVDALA | SSHPLSTPAS | EINTPAQISE | LFDAISYSKG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ASVLRMLSSF | LSEDVFKQGL | ASYLHTFAYQ | NTIYLNLWDH | LQEAVNNRSI | QLPTTVRDIM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NRWTLQMGFP | VITVDTSTGT | LSQEHFLLDP | DSNVTRPSEF | NYVWIVPITS | IRDGRQQQDY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WLIDVRAQND | LFSTSGNEWV | LLNLNVTGYY | RVNYDEENWR | KIQTQLQRDH | SAIPVINRAQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IINDAFNLAS | AHKVPVTLAL | NNTLFLIEER | QYMPWEAALS | SLSYFKLMFD | RSEVYGPMKN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YLKKQVTPLF | IHFRNNTNNW | REIPENLMDQ | YSEVNAISTA | CSNGVPECEE | MVSGLFKQWM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ENPNNNPIHP | NLRSTVYCNA | IAQGGEEEWD | FAWEQFRNAT | LVNEADKLRA | ALACSKELWI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LNRYLSYTLN | PDLIRKQDAT | STIISITNNV | IGQGLVWDFV | QSNWKKLFND | YGGGSFSFSN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LIQAVTRRFS | TEYELQQLEQ | FKKDNEETGF | GSGTRALEQA | LEKTKANIKW | VKENKEVVLQ |
| WFTENSK |