Q9NQ75
PR
Gene name |
CASS4 (C20orf32, HEFL) |
Protein name |
Cas scaffolding protein family member 4 |
Names |
HEF-like protein, HEF1-EFS-p130Cas-like protein, HEPL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57091 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9NQ75
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2CRE | NMR | - | A | 14-71 | PDB |
| AF-Q9NQ75-F1 | Predicted | AlphaFoldDB |
640 variants for Q9NQ75
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9917856 rs775780911 |
3 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA316179416 rs890799897 |
4 | T>R | No |
ClinGen TOPMed |
|
|
CA409401244 rs1212185473 |
5 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 5 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138191448 CA409401250 |
6 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138191448 CA9917858 |
6 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275901550 CA409401267 |
7 | M>T | No |
ClinGen gnomAD |
|
|
rs773256357 CA9917859 |
7 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409401306 rs1176481843 |
9 | C>W | No |
ClinGen TOPMed |
|
|
rs1484335408 CA409401298 |
9 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA409401308 rs1206630380 |
10 | A>T | No |
ClinGen gnomAD |
|
|
rs374168804 CA9917860 |
10 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA316179457 rs1046975336 COSM3701643 |
12 | K>N | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1424811274 CA409404979 |
13 | A>T | No |
ClinGen TOPMed |
|
|
rs776911499 CA9917877 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748253287 CA9917878 |
16 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405062 rs1377070023 |
19 | L>I | No |
ClinGen gnomAD |
|
|
rs1033734315 CA316201716 |
23 | C>F | No |
ClinGen Ensembl |
|
|
CA409405151 rs1194220610 |
24 | P>A | No |
ClinGen TOPMed |
|
|
rs892417989 CA316201719 |
24 | P>L | No |
ClinGen TOPMed |
|
|
CA409405157 rs1466562342 |
25 | D>H | No |
ClinGen gnomAD |
|
|
CA9917880 rs774376848 |
26 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA409405187 rs1600759786 |
26 | C>S | No |
ClinGen Ensembl |
|
|
CA409405204 rs1434601399 |
27 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1386672146 CA409405197 |
27 | S>P | No |
ClinGen gnomAD |
|
|
CA9917882 rs767393342 |
29 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405266 rs1458688202 |
31 | A>V | No |
ClinGen gnomAD |
|
|
CA409405294 rs1301103799 |
33 | S>N | No |
ClinGen gnomAD |
|
|
rs958032346 CA316201733 |
37 | I>T | No |
ClinGen Ensembl |
|
|
CA409405372 rs1435026042 |
40 | I>T | No |
ClinGen TOPMed |
|
|
CA409405370 rs1304716845 |
40 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA316201736 rs989436634 |
44 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA409405396 rs989436634 |
44 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763578592 CA9917885 |
44 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405405 rs1431629842 |
45 | V>A | No |
ClinGen TOPMed |
|
|
CA9917887 rs756760484 |
45 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA316201783 rs2145282 |
47 | E>K | No |
ClinGen Ensembl |
|
|
CA409405421 rs1433728649 |
48 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA409405425 rs1412503392 |
48 | S>I | No |
ClinGen TOPMed |
|
|
rs374978146 CA9917890 |
49 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368082221 CA9917891 |
50 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9917892 rs370335675 |
59 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3389843 rs1388290481 CA409405515 |
61 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 63 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9917893 rs755196040 |
65 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA409405544 rs781570933 |
66 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600760010 CA409405545 |
66 | N>T | No |
ClinGen Ensembl |
|
|
CA9917894 rs781570933 |
66 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9917895 rs748199976 |
67 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748199976 CA9917896 |
67 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405551 rs1236494477 |
67 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1227319197 CA409405572 |
70 | I>T | No |
ClinGen gnomAD |
|
|
rs775410880 CA9917900 |
72 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9917901 rs760473733 |
73 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1600760066 CA409405598 |
74 | V>G | No |
ClinGen Ensembl |
|
|
rs368270565 CA9917902 |
75 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776292360 CA9917903 |
76 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761295290 CA9917904 |
77 | D>N | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 78 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9917906 rs769993078 |
79 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405643 rs1164398388 |
82 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 82 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749520065 CA316201857 |
82 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9917909 rs749520065 |
82 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9917908 rs749520065 |
82 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405644 rs1164398388 |
82 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 83 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409405668 rs1306718429 |
86 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1368576244 CA409405697 |
90 | A>V | No |
ClinGen TOPMed |
|
|
rs1170446757 CA409405708 |
92 | A>D | No |
ClinGen TOPMed |
|
|
rs35360819 CA9917910 |
93 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA316201860 rs753016401 |
100 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9917912 rs753016401 |
100 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409405842 rs1226231809 |
101 | P>L | No |
ClinGen gnomAD |
|
|
rs1311638809 CA409405845 |
102 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA409405853 rs1311638809 |
102 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9917914 rs777975018 |
103 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140416187 CA316201867 |
104 | P>S | No |
ClinGen ESP TOPMed |
|
|
COSM1028272 rs199573867 CA9917915 |
105 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs142769327 CA9917916 |
105 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142769327 CA409405888 |
105 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779858371 CA9917917 |
108 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA409405933 rs1254032342 |
109 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746762411 CA9917918 |
110 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9917919 rs537886051 |
111 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA316201900 rs949087924 |
112 | V>A | No |
ClinGen TOPMed |
|
|
CA9917921 rs761524521 |
112 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147345863 CA9917922 |
113 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772723145 CA9917923 |
114 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs541779429 CA9917924 |
115 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766870250 CA9917925 |
116 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA316201904 rs905698872 |
116 | M>T | No |
ClinGen gnomAD |
|
|
CA409406056 rs1356310967 |
117 | R>G | No |
ClinGen TOPMed |
|
|
rs759957814 CA9917927 |
118 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9917929 rs768034851 |
119 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9917928 rs768034851 |
119 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756414497 CA9917930 |
120 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753885243 CA9917932 |
121 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1299752267 CA409406144 |
122 | G>V | No |
ClinGen TOPMed |
|
|
rs757310195 CA9917933 |
123 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757310195 CA9917934 |
123 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA409406263 rs1156732826 |
131 | Y>C | No |
ClinGen gnomAD |
|
|
rs1484376120 CA409406269 COSM1412623 |
132 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9917940 rs769423454 |
133 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772772885 CA9917941 |
134 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9917944 rs774967764 |
135 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs146715351 CA9917943 |
135 | D>N | Variant assessed as Somatic; 0.0003468 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA409406310 rs1178198293 |
138 | T>I | No |
ClinGen TOPMed |
|
|
rs1254434665 CA409406305 |
138 | T>P | No |
ClinGen TOPMed |
|
|
CA9917947 rs775937409 |
145 | E>Q | No |
ClinGen ExAC |
|
|
CA409406384 rs760948691 COSM191754 |
149 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760948691 CA9917948 |
149 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454219915 CA409406414 |
153 | Q>R | No |
ClinGen gnomAD |
|
|
rs762003640 CA9917969 |
154 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1271767004 CA409406635 |
156 | L>P | No |
ClinGen gnomAD |
|
|
rs200660833 CA9917971 |
157 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472734217 CA409406649 |
159 | P>S | No |
ClinGen gnomAD |
|
|
rs767396207 CA9917973 |
162 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs149841530 CA9917976 |
163 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9917975 rs149841530 |
163 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM119912 rs149841530 CA9917977 |
163 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139063252 COSM1412624 CA9917974 |
163 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252871219 CA409406689 |
166 | L>R | No |
ClinGen TOPMed |
|
|
CA9917979 COSM1247379 rs778711376 |
167 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756910586 CA9917978 |
167 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs77627768 CA9917981 |
168 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9917982 rs780584584 |
169 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409406721 rs1255329944 |
172 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 172 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246208893 CA409406726 |
173 | V>E | No |
ClinGen gnomAD |
|
|
CA9917985 rs144842767 COSM1291134 |
176 | V>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed |
|
CA409406746 rs3746622 |
176 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3746622 CA9917984 |
176 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409406754 rs1399001002 |
177 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 177 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9917986 rs762172786 |
178 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769966727 CA9917989 |
178 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769966727 CA9917987 |
178 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA9917988 rs769966727 |
178 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1299131190 CA409406758 |
179 | Q>E | No |
ClinGen TOPMed |
|
|
rs140568690 CA9917993 |
181 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140568690 CA9917992 |
181 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148553170 CA9917991 |
181 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409406778 COSM1247381 rs1472309441 |
182 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1366353805 CA409406776 |
182 | G>R | No |
ClinGen gnomAD |
|
|
rs757147059 CA9917995 COSM1483778 |
184 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252341216 CA409406792 |
185 | V>I | No |
ClinGen TOPMed |
|
|
CA409406799 rs1427707842 |
186 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144420438 CA9917996 |
187 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3389844 CA409407482 rs1363457195 |
188 | E>D | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1600772375 CA409407475 |
188 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 193 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434828944 CA409407587 |
195 | Y>* | No |
ClinGen gnomAD |
|
|
CA409407622 rs1309805513 |
197 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766064182 CA9918019 |
197 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA316209266 rs1031397464 |
198 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1163054518 CA409407659 |
200 | S>R | No |
ClinGen gnomAD |
|
|
rs754541747 CA9918021 |
200 | S>R | No |
ClinGen ExAC |
|
|
rs868613416 CA316209280 |
202 | K>M | No |
ClinGen Ensembl |
|
|
rs1191596468 CA409407722 |
204 | A>S | No |
ClinGen TOPMed |
|
|
rs781529808 CA9918022 |
205 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA409407757 rs1371377113 |
206 | L>R | No |
ClinGen gnomAD |
|
|
CA409407778 rs1411925558 |
207 | H>Q | No |
ClinGen gnomAD |
|
|
rs756466731 CA9918024 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs558608299 CA9918026 |
209 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558608299 CA9918025 |
209 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9918027 rs770991801 COSM359711 |
210 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA316209299 rs966322313 |
214 | S>C | No |
ClinGen Ensembl |
|
|
rs1456772539 CA409408196 |
219 | P>A | No |
ClinGen gnomAD |
|
|
CA409408232 rs1293387475 |
220 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1404979572 CA409408251 |
221 | I>K | No |
ClinGen gnomAD |
|
|
rs772038216 CA9918047 |
221 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409408265 rs1412563648 |
222 | S>T | No |
ClinGen TOPMed |
|
|
CA409408324 rs1348134091 |
225 | T>P | No |
ClinGen gnomAD |
|
|
rs1179789904 CA409408329 |
225 | T>S | No |
ClinGen TOPMed |
|
|
rs374995714 CA9918050 |
227 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238384019 CA409408409 |
229 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1490501338 CA409408447 |
230 | G>D | No |
ClinGen gnomAD |
|
|
rs146617358 CA9918052 |
230 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409408475 rs1224681222 |
231 | Y>C | No |
ClinGen gnomAD |
|
|
CA409408491 rs1483445364 |
232 | S>G | No |
ClinGen gnomAD |
|
|
CA9918053 rs762636981 |
235 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177992598 CA409408639 |
237 | P>T | No |
ClinGen gnomAD |
|
|
CA9918054 rs188270733 |
238 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773870765 CA9918055 |
240 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767171464 CA9918057 |
243 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA409408809 rs1600773659 |
244 | Y>C | No |
ClinGen Ensembl |
|
|
CA9918058 rs752134700 |
244 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs200048841 CA9918059 |
245 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA316209803 rs944293988 |
246 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA9918060 rs764535764 |
248 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA409408940 rs1298334340 |
249 | S>C | No |
ClinGen gnomAD |
|
|
CA9918061 rs754417275 |
251 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA409408967 rs1183015246 |
251 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409409017 rs1359946287 |
253 | A>G | No |
ClinGen gnomAD |
|
|
CA409409014 rs1314067209 |
253 | A>P | No |
ClinGen gnomAD |
|
|
CA409409012 rs1314067209 |
253 | A>T | No |
ClinGen gnomAD |
|
|
COSM1533963 CA9918065 rs73159591 |
255 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372663259 CA9918066 |
258 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA316209832 rs993726665 |
259 | P>A | No |
ClinGen Ensembl |
|
|
CA9918068 rs768909527 |
260 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA409409209 rs1181542034 |
261 | T>I | No |
ClinGen gnomAD |
|
|
CA409409229 rs1244107208 |
262 | S>N | No |
ClinGen gnomAD |
|
|
rs777823212 CA9918069 |
262 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA409409261 rs1167263232 |
263 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918070 rs367625281 |
264 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1170568485 CA409409306 |
265 | E>G | No |
ClinGen gnomAD |
|
|
rs774139936 CA9918072 |
266 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759253046 CA9918073 |
268 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409409401 rs1254535015 |
269 | P>S | No |
ClinGen TOPMed |
|
|
CA9918074 rs771671673 COSM3740191 |
271 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9918075 rs775146098 |
271 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9918077 rs763631609 |
273 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754293038 CA9918078 |
276 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749532978 CA316209854 |
277 | S>P | No |
ClinGen Ensembl |
|
|
CA316209857 rs1035946876 |
281 | N>D | No |
ClinGen TOPMed |
|
|
CA409409709 rs1568681691 |
281 | N>K | No |
ClinGen Ensembl |
|
|
CA9918079 rs762438061 |
281 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918080 rs199808780 |
282 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9918081 rs199808780 |
282 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409409744 rs1326850494 |
283 | P>L | No |
ClinGen TOPMed |
|
|
rs758859344 CA9918082 |
283 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA409409752 rs1203259754 |
284 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780405743 CA9918083 |
284 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA409409771 rs1462885588 |
284 | S>R | No |
ClinGen gnomAD |
|
|
CA409409775 rs1366900395 |
285 | G>S | No |
ClinGen TOPMed |
|
|
CA409409794 rs1291287225 |
286 | R>G | No |
ClinGen TOPMed |
|
|
rs372172040 CA9918085 |
286 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1022703221 CA316209886 |
286 | R>T | No |
ClinGen Ensembl |
|
|
CA409409825 rs1247903047 |
287 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781391496 CA9918086 COSM1713706 |
288 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1568681736 CA409409866 |
288 | R>S | No |
ClinGen Ensembl |
|
|
rs753397576 CA316209891 |
289 | S>F | No |
ClinGen Ensembl |
|
|
rs748193269 CA9918087 |
289 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA409409939 rs1157995222 |
292 | P>T | No |
ClinGen TOPMed |
|
|
rs778745360 CA9918089 |
293 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA316209898 rs779074764 |
295 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9918091 rs376819122 |
295 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160435990 CA409410067 |
297 | N>D | No |
ClinGen TOPMed |
|
|
rs775091205 CA9918092 |
297 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452587437 CA409410097 |
298 | V>M | No |
ClinGen gnomAD |
|
|
CA409410146 rs1600774048 |
300 | M>T | No |
ClinGen Ensembl |
|
|
rs999874366 CA316209903 |
301 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs369739655 CA9918094 |
302 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531219703 CA316209912 |
304 | L>V | No |
ClinGen Ensembl |
|
|
rs1284100465 CA409410344 |
307 | P>L | No |
ClinGen gnomAD |
|
|
rs200949271 CA316209919 |
307 | P>S | No |
ClinGen 1000Genomes |
|
|
CA9918095 rs776146546 |
308 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9918096 rs761263769 |
310 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs956151734 CA316209931 |
312 | Y>C | No |
ClinGen Ensembl |
|
|
rs765728156 CA9918097 |
315 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409410552 rs1447994663 |
317 | P>A | No |
ClinGen gnomAD |
|
|
rs766918491 CA9918100 |
320 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316209962 rs1023591643 |
321 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs865932743 CA316209975 |
322 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9918101 COSM1028275 rs140450802 |
326 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA316209982 rs772751260 |
328 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1401145062 CA409410810 |
330 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755196041 CA9918102 |
331 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409410817 rs1311470954 |
331 | V>F | No |
ClinGen TOPMed |
|
|
rs1311470954 CA409410814 |
331 | V>I | No |
ClinGen TOPMed |
|
|
CA316209987 rs867712425 |
332 | P>S | No |
ClinGen Ensembl |
|
|
CA9918103 rs767639107 |
334 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752780274 CA9918104 |
335 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs756167828 CA9918105 COSM3939414 |
339 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9918106 rs149703805 |
339 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144494485 CA9918108 CA409410965 |
340 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746817385 CA409411016 |
342 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918110 rs746817385 |
342 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA409411052 rs1288292542 |
343 | Q>K | No |
ClinGen gnomAD |
|
|
rs768228596 CA9918111 |
345 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409411129 rs1389603899 |
347 | P>A | No |
ClinGen TOPMed |
|
|
rs1466422896 CA409411169 |
349 | I>T | No |
ClinGen TOPMed |
|
|
CA409411166 rs1186815885 |
349 | I>V | No |
ClinGen TOPMed |
|
|
rs942097864 CA316210006 |
352 | I>V | No |
ClinGen gnomAD |
|
|
CA9918116 rs377289897 |
353 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409411260 rs1176897547 |
355 | A>T | No |
ClinGen Ensembl |
|
|
rs1254132731 CA409411273 |
355 | A>V | No |
ClinGen TOPMed |
|
|
rs912723811 CA316210012 |
356 | T>A | No |
ClinGen TOPMed |
|
|
COSM1641385 CA9918118 rs774792011 |
356 | T>M | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM3841355 rs767728589 CA9918120 |
357 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756187603 CA9918122 |
358 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409411320 rs1568681925 |
358 | S>R | No |
ClinGen Ensembl |
|
|
rs975696211 CA316210031 |
358 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764146773 CA9918123 |
360 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918124 rs148219392 |
361 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316210061 rs1057376930 COSM3389845 |
362 | A>D | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs758270758 CA409411374 |
362 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918125 rs758270758 |
362 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779969415 CA9918126 |
363 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA409411403 rs1247336097 |
364 | K>M | No |
ClinGen gnomAD |
|
|
rs1451429263 CA409411428 |
366 | L>P | No |
ClinGen TOPMed |
|
|
rs751309869 CA9918127 |
370 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1294674687 CA409411483 |
370 | K>R | No |
ClinGen gnomAD |
|
|
CA409411498 rs1390970453 |
371 | E>G | No |
ClinGen TOPMed |
|
|
rs780870845 CA9918129 |
376 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs76558241 CA316210075 |
376 | S>P | No |
ClinGen Ensembl |
|
|
rs769333762 CA9918131 |
377 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918130 rs747825213 |
377 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918132 rs769333762 |
377 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409411598 rs771526401 |
379 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918134 rs771526401 |
379 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372419278 CA316210087 |
382 | S>P | No |
ClinGen ESP TOPMed |
|
|
COSM1495136 CA316210090 rs895670548 |
383 | W>* | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA409411651 rs1164054133 |
383 | W>S | No |
ClinGen gnomAD |
|
|
rs775018937 CA9918135 |
385 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918138 rs775776673 |
387 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772361440 CA9918137 |
387 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142749187 CA9918139 |
388 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA316210125 rs1022868200 |
391 | P>A | No |
ClinGen TOPMed |
|
|
rs1350348318 CA409411752 |
391 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 392 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918143 rs140144032 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754801286 CA9918145 |
395 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409411822 rs1339549446 |
396 | D>E | No |
ClinGen gnomAD |
|
|
CA409411836 rs1431665162 |
398 | L>I | No |
ClinGen TOPMed |
|
|
CA409411894 rs1371212564 |
402 | S>T | No |
ClinGen TOPMed |
|
|
CA9918148 rs752549459 |
405 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409411953 rs755655823 |
406 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162793324 CA409411949 |
406 | R>T | No |
ClinGen TOPMed |
|
|
CA409411964 rs1456571318 |
407 | A>G | No |
ClinGen TOPMed |
|
|
CA9918150 rs777600668 |
410 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000903584 CA9918151 rs112730552 |
411 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA316210153 rs1031760441 |
412 | S>L | No |
ClinGen gnomAD |
|
|
rs1174536969 CA409412041 |
413 | C>Y | No |
ClinGen gnomAD |
|
|
rs558313544 CA409412054 |
414 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9918153 rs558313544 |
414 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409412048 rs1475425795 |
414 | S>P | No |
ClinGen TOPMed |
|
|
rs772471393 CA9918155 |
416 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs953937721 CA316210172 |
419 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs953937721 CA409412109 |
419 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1229053474 CA409412130 |
420 | D>G | No |
ClinGen gnomAD |
|
|
rs761101859 CA9918157 |
420 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965559493 CA316210182 |
421 | S>Y | No |
ClinGen TOPMed |
|
|
CA316210186 rs141641872 |
422 | S>A | No |
ClinGen ESP TOPMed |
|
|
rs1203938505 CA409412172 |
423 | S>R | No |
ClinGen gnomAD |
|
|
CA316210191 rs375619279 |
424 | S>C | No |
ClinGen ESP TOPMed |
|
|
RCV000958094 CA9918159 rs34899200 |
426 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs139403781 CA316210202 |
427 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765370966 CA9918161 |
427 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs908211809 CA316210205 |
428 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752395583 CA9918165 |
435 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755962074 CA9918166 |
436 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756822677 CA9918169 |
438 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753583968 CA9918168 |
438 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756822677 CA409412398 |
438 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918170 rs778623606 |
440 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA409412475 rs1568682219 |
442 | E>G | No |
ClinGen Ensembl |
|
|
rs745392746 TCGA novel CA9918171 |
445 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1238134051 CA409412581 |
448 | Q>* | No |
ClinGen gnomAD |
|
|
rs1241625248 CA409412597 |
449 | H>D | No |
ClinGen gnomAD |
|
|
rs200228453 CA9918174 |
452 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600774911 CA409412731 |
454 | S>F | No |
ClinGen Ensembl |
|
|
COSM1412630 CA409412735 rs1268203172 |
455 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs776832429 CA9918176 |
456 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs559542055 CA9918175 |
456 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA316210270 rs527807357 |
458 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs770021620 CA9918178 |
461 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9918181 rs767310064 |
463 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs919291093 CA316210285 |
463 | S>R | No |
ClinGen Ensembl |
|
|
rs376814976 CA9918182 |
464 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409412945 rs1464199118 |
465 | K>N | No |
ClinGen TOPMed |
|
|
rs753526844 CA9918185 COSM1199676 |
469 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756912515 CA9918186 |
470 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044229460 CA316210304 |
471 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9918187 rs764981924 |
472 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1360243582 CA409413112 |
474 | A>D | No |
ClinGen gnomAD |
|
|
CA9918189 rs757945426 |
475 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 475 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146122261 CA9918190 |
476 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326720925 CA409413180 |
477 | D>G | No |
ClinGen TOPMed |
|
|
CA316210349 rs917517655 |
478 | A>T | No |
ClinGen Ensembl |
|
|
CA409413212 rs1434627395 |
478 | A>V | No |
ClinGen TOPMed |
|
|
CA409413248 rs1600775082 |
480 | H>R | No |
ClinGen Ensembl |
|
|
rs1178020023 CA409413298 |
483 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1253027487 CA409413339 |
485 | H>P | No |
ClinGen gnomAD |
|
|
CA409413331 rs1402243042 |
485 | H>Y | No |
ClinGen TOPMed |
|
|
CA409413356 rs1443169669 |
486 | I>T | No |
ClinGen gnomAD |
|
|
rs755326072 CA9918192 |
489 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA409399842 rs1477024373 |
490 | V>A | No |
ClinGen TOPMed |
|
|
rs770317129 CA9918193 |
490 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000971166 rs16979936 VAR_054084 CA9918194 |
491 | R>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145762733 CA9918195 |
492 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866071361 CA316167545 COSM191763 |
492 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs201454304 CA409399908 |
495 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316167568 rs1044586660 |
495 | D>V | No |
ClinGen Ensembl |
|
|
CA9918196 rs201454304 |
495 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918197 rs749307548 COSM724097 |
497 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749307548 CA409399930 |
497 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771080322 CA9918198 |
498 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1412631 rs775284457 CA9918199 |
498 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs904655774 CA316167584 |
507 | L>R | No |
ClinGen Ensembl |
|
|
rs1450259824 CA409400075 |
508 | T>I | No |
ClinGen gnomAD |
|
|
rs1383494335 CA409400131 |
511 | N>K | No |
ClinGen gnomAD |
|
|
rs1229991108 CA409400141 |
512 | L>P | No |
ClinGen gnomAD |
|
|
rs760752577 CA9918200 |
514 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9918201 rs764139797 |
516 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs891477283 CA316167603 |
517 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9918203 rs533336238 COSM724096 |
517 | R>W | lung large_intestine skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs762367653 CA9918206 |
518 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs371150425 CA9918205 |
518 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409400238 rs1363216775 |
520 | M>I | No |
ClinGen TOPMed |
|
|
rs550251334 CA9918207 |
520 | M>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs377729881 CA9918208 |
522 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185304167 CA409400278 |
526 | S>F | No |
ClinGen gnomAD |
|
|
CA9918209 rs755415780 |
527 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 527 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918210 rs529524026 |
528 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9918212 rs148921681 |
528 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9918211 rs148921681 RCV000958781 |
528 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770901628 CA9918215 |
535 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA409400331 rs1600775341 |
535 | E>A | No |
ClinGen Ensembl |
|
|
CA9918219 rs186338077 COSM1028282 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9918220 rs761675318 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316167672 rs761675318 |
540 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316167674 rs1028497835 |
541 | N>S | No |
ClinGen TOPMed |
|
|
CA316167677 rs1016759262 |
542 | W>G | No |
ClinGen Ensembl |
|
|
CA409400388 rs962517223 |
543 | P>H | No |
ClinGen gnomAD |
|
|
rs962517223 CA316167680 |
543 | P>L | No |
ClinGen gnomAD |
|
|
CA9918221 rs200192753 |
544 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534428950 CA9918222 |
545 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1444501272 CA409400407 |
547 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9918223 rs762611920 |
548 | V>L | No |
ClinGen ExAC |
|
|
rs765956674 CA9918224 |
549 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs371141970 CA9918225 |
550 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409400432 rs1283573287 |
551 | S>C | No |
ClinGen gnomAD |
|
|
CA409400459 rs142811598 |
554 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA316167695 rs762687571 |
555 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 557 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425191131 CA409400500 |
560 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918228 rs753246501 |
562 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA409400514 rs1175282462 |
562 | F>S | No |
ClinGen gnomAD |
|
|
CA9918229 rs201366703 |
563 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9918230 rs778255229 |
564 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778255229 CA316167704 |
564 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918231 rs571184962 |
565 | V>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs757429813 CA9918232 |
567 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409400541 rs1316116776 |
567 | R>W | No |
ClinGen gnomAD |
|
|
rs992522298 CA316167731 |
568 | M>I | No |
ClinGen TOPMed |
|
|
rs779035230 CA9918233 |
568 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 569 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745893482 CA9918234 |
570 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772325603 CA9918235 |
571 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409400573 rs1340177781 |
572 | D>V | No |
ClinGen TOPMed |
|
|
CA409400592 rs1215364008 |
575 | R>G | No |
ClinGen TOPMed |
|
|
CA409400596 rs1378796258 |
575 | R>M | No |
ClinGen TOPMed |
|
| TCGA novel | 577 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918236 rs781242436 |
577 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA409400611 rs1284248278 |
577 | A>V | No |
ClinGen gnomAD |
|
|
rs189999295 CA9918237 |
578 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs151045039 CA9918238 |
580 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 582 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557015028 CA9918239 |
583 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9918241 rs770573097 |
585 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA316167758 rs950832531 |
586 | L>F | No |
ClinGen gnomAD |
|
|
CA9918242 rs774042931 |
586 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA9918245 rs775960291 |
590 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9918244 rs199513148 COSM1028284 |
590 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA409400697 rs1401167213 |
591 | N>K | No |
ClinGen gnomAD |
|
|
rs1368135310 CA409400701 |
592 | C>Y | No |
ClinGen TOPMed |
|
|
CA409400718 rs1363716295 |
594 | K>R | No |
ClinGen gnomAD |
|
|
rs1568682661 CA409400735 |
596 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9918248 rs754186572 |
596 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757585031 CA9918250 |
598 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1279288779 CA409400769 |
601 | T>S | No |
ClinGen gnomAD |
|
|
rs1158511706 CA409400777 |
603 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9918253 rs758545822 |
607 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA316167807 rs992861360 |
607 | K>N | No |
ClinGen gnomAD |
|
|
rs536126976 CA409400814 |
608 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536126976 CA9918254 |
608 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409400815 rs1221155235 |
608 | C>Y | No |
ClinGen gnomAD |
|
|
rs1290106795 CA409400834 |
610 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201645295 CA316167812 |
611 | Y>N | No |
ClinGen Ensembl |
|
|
CA409400846 rs1452933222 |
612 | I>T | No |
ClinGen gnomAD |
|
|
rs201359000 CA316167828 |
612 | I>V | No |
ClinGen 1000Genomes |
|
|
CA409400853 rs1179247650 |
613 | Q>R | No |
ClinGen gnomAD |
|
|
rs1182054182 CA409400858 |
614 | P>A | No |
ClinGen TOPMed |
|
|
rs551061127 CA9918255 |
615 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918256 rs756039782 |
616 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs6069754 CA9918258 |
619 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6069754 CA316167844 |
619 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 620 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 620 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770674921 CA9918259 |
620 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773990506 CA9918260 |
621 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA409400909 rs373652454 |
622 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373652454 CA9918261 |
622 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409400906 rs1364514405 |
622 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs573057697 CA9918262 |
625 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409400940 rs774911011 |
626 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918263 rs774911011 |
626 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600775761 CA409400936 |
626 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 626 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 627 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs6069755 CA9918264 |
629 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6069755 CA316167887 VAR_054085 |
629 | T>N | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA9918267 rs371792476 |
630 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765762144 CA9918268 |
632 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs564566023 CA9918269 |
632 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 633 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766739822 CA409400989 |
634 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA409400985 rs1462729986 |
634 | D>N | No |
ClinGen TOPMed |
|
|
CA9918271 rs766739822 |
634 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9918273 rs755066831 |
635 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751609355 CA9918272 |
635 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1200353902 CA409400996 |
635 | E>V | No |
ClinGen gnomAD |
|
|
CA9918274 rs146257982 |
636 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs571519281 CA316167908 |
637 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA409401027 rs1370201808 |
640 | L>P | No |
ClinGen gnomAD |
|
|
rs200859679 CA9918275 |
643 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2870738 CA9918277 CA409401064 |
645 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409401069 rs1215761120 |
646 | A>G | No |
ClinGen TOPMed |
|
|
rs745664879 CA9918278 |
647 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1336718861 CA409401081 |
648 | I>T | No |
ClinGen gnomAD |
|
|
rs771669711 CA9918279 |
648 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746506073 CA9918281 |
649 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs777190081 CA9918283 |
651 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779725157 CA9918301 |
654 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs768197172 CA9918303 |
655 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA316171099 rs867626640 |
655 | P>S | No |
ClinGen Ensembl |
|
|
rs141340009 CA9918304 |
656 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409401988 rs141340009 |
656 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA316171107 rs969504165 |
657 | I>L | No |
ClinGen TOPMed |
|
|
rs747726001 CA9918305 |
657 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409402004 rs1316271231 |
657 | I>T | No |
ClinGen TOPMed |
|
|
rs770375718 CA9918306 |
658 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409402032 rs35031530 |
660 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9918307 VAR_054086 rs35031530 |
660 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs35031530 CA409402030 |
660 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220410646 CA409402049 |
661 | S>L | No |
ClinGen gnomAD |
|
|
rs1229304940 CA409402066 |
662 | S>R | No |
ClinGen gnomAD |
|
|
rs368500669 CA316171155 |
664 | Q>L | No |
ClinGen ESP TOPMed |
|
|
rs1488903087 CA409402094 |
665 | T>S | No |
ClinGen gnomAD |
|
|
rs988418405 CA316171166 |
666 | P>S | No |
ClinGen TOPMed |
|
|
CA9918310 rs751183692 |
667 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9918309 rs771493456 |
667 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1418930051 CA409402160 |
670 | P>R | No |
ClinGen gnomAD |
|
|
CA409402170 rs1600781620 |
671 | R>C | No |
ClinGen Ensembl |
|
|
rs372446953 CA9918311 |
671 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409402177 rs1230654094 |
672 | L>V | No |
ClinGen TOPMed |
|
|
rs1161088208 CA409402223 |
675 | H>Q | No |
ClinGen gnomAD |
|
|
rs137992530 CA9918312 |
675 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183406013 CA409402213 |
675 | H>Y | No |
ClinGen TOPMed |
|
|
CA409402243 rs1348816140 |
677 | R>P | No |
ClinGen gnomAD |
|
|
rs1348816140 CA409402241 |
677 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1294928152 CA409402265 |
679 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9918317 rs199670261 |
682 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750400828 CA9918316 |
682 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316171227 rs199670261 |
682 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9918319 rs201823830 |
688 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9918320 rs143861124 |
688 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148206287 CA9918321 COSM1412635 |
689 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9918323 rs1442960101 |
691 | H>Q | No |
ClinGen TOPMed |
|
|
rs768196425 CA9918327 |
692 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768196425 CA9918326 |
692 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9918328 rs749870318 |
693 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1423951751 CA409402463 |
695 | S>G | No |
ClinGen gnomAD |
|
|
CA9918330 rs774509625 |
697 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs564292215 CA9918331 |
697 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 699 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904182419 CA316171332 |
699 | P>L | No |
ClinGen Ensembl |
|
|
CA9918332 rs756117582 COSM298182 |
700 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 701 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9918334 rs760714763 |
702 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1302265622 CA409402572 |
703 | I>V | No |
ClinGen gnomAD |
|
|
rs369890182 CA9918336 |
705 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 709 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260328990 CA409402670 |
710 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1460263521 CA409402680 |
711 | M>T | No |
ClinGen gnomAD |
|
|
CA409402693 rs1203581333 |
712 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs751266001 CA9918339 |
713 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9918342 rs752468509 |
718 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9918343 rs146156375 |
719 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 721 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748815198 CA9918346 |
722 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs748815198 CA409402767 |
722 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9918347 rs140104775 |
723 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409402788 rs1359715082 |
725 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA409402791 rs1450166082 |
725 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1215472448 CA409402807 |
727 | R>T | No |
ClinGen TOPMed |
|
|
CA409402814 rs1600781970 |
728 | D>G | No |
ClinGen Ensembl |
|
|
rs1339957328 CA409402823 |
729 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1339957328 CA409402822 |
729 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746192245 COSM1242092 CA9918349 |
730 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746192245 CA409402825 |
730 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409402826 rs1280406712 |
730 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746192245 CA9918350 |
730 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9918352 rs747288992 |
732 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9918355 rs150842021 |
735 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA316171500 rs369554766 |
735 | R>L | No |
ClinGen Ensembl |
|
|
CA409402861 rs1389321179 |
736 | G>S | No |
ClinGen Ensembl |
|
|
rs1343225233 COSM4137059 CA409402867 |
737 | S>R | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9918357 rs774386861 |
739 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA9918358 rs150016338 |
740 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA316171532 rs973375385 |
741 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 742 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 744 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416041194 CA409402926 |
745 | K>M | No |
ClinGen gnomAD |
|
|
CA316171568 rs534377125 |
747 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs753347040 CA9918363 |
750 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs145191360 CA9918364 |
752 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409402982 rs1343913675 |
754 | A>D | No |
ClinGen gnomAD |
|
|
rs144472163 CA9918367 |
757 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600782205 CA409403005 |
758 | Y>S | No |
ClinGen Ensembl |
|
|
rs747377046 CA9918369 |
759 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9918375 rs371811746 |
763 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371811746 CA9918374 COSM304244 |
763 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA316171636 COSM1580019 rs980239206 |
763 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9918378 rs760566656 |
764 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9918379 rs141299799 |
769 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409403070 rs1379663290 |
769 | A>T | No |
ClinGen gnomAD |
|
|
CA9918380 rs141299799 |
769 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA316171660 rs925668731 |
771 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764860072 CA9918382 |
771 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199741474 CA9918383 |
773 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 774 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758872171 CA9918384 |
775 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409403131 rs1440532228 |
778 | T>A | No |
ClinGen gnomAD |
|
|
CA9918386 rs369501809 |
778 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9918388 rs373604871 |
779 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1435693423 CA409403135 |
779 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs7272702 VAR_054087 CA9918389 |
780 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA409403142 rs1353647666 |
780 | Q>R | No |
ClinGen gnomAD |
|
|
rs769925748 CA9918390 |
783 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1453093685 CA409403167 |
784 | T>S | No |
ClinGen gnomAD |
|
|
rs749361560 CA9918392 |
785 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs772082389 CA9918393 |
786 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1359241049 CA409403186 |
787 | G>C | No |
ClinGen TOPMed |
|
|
CA9918394 rs377131087 |
787 | G>R | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with Q9NQ75
3 regional properties for Q9NQ75
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cathelicidin, conserved site | 35 - 48 | IPR018216-1 |
| conserved_site | Cathelicidin, conserved site | 79 - 101 | IPR018216-2 |
| domain | Cathelicidin, antimicrobial peptide, C-terminal | 136 - 162 | IPR022746 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of actin filaments. |
| 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. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| positive regulation of protein tyrosine kinase activity | Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity. |
| positive regulation of substrate adhesion-dependent cell spreading | Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
| transmembrane receptor protein tyrosine kinase 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 tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08EC4 | Cass4 | Cas scaffolding protein family member 4 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKGTGIMDCA | PKALLARALY | DNCPDCSDEL | AFSRGDILTI | LEQHVPESEG | WWKCLLHGRQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GLAPANRLQI | LTEVAADRPC | PPFLRGLEEA | PASSEETYQV | PTLPRPPTPG | PVYEQMRSWA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EGPQPPTAQV | YEFPDPPTSA | RIICEKTLSF | PKQAILTLPR | PVRASLPTLP | SQVYDVPTQH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RGPVVLKEPE | KQQLYDIPAS | PKKAGLHPPD | SQASGQGVPL | ISVTTLRRGG | YSTLPNPQKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EWIYDTPVSP | GKASVRNTPL | TSFAEESRPH | ALPSSSSTFY | NPPSGRSRSL | TPQLNNNVPM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QKKLSLPEIP | SYGFLVPRGT | FPLDEDVSYK | VPSSFLIPRV | EQQNTKPNIY | DIPKATSSVS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QAGKELEKAK | EVSENSAGHN | SSWFSRRTTS | PSPEPDRLSG | SSSDSRASIV | SSCSTTSTDD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSSSSSEESA | KELSLDLDVA | KETVMALQHK | VVSSVAGLML | FVSRKWRFRD | YLEANIDAIH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RSTDHIEESV | REFLDFARGV | HGTACNLTDS | NLQNRIRDQM | QTISNSYRIL | LETKESLDNR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NWPLEVLVTD | SVQNSPDDLE | RFVMVARMLP | EDIKRFASIV | IANGRLLFKR | NCEKEETVQL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TPNAEFKCEK | YIQPPQRETE | SHQKSTPSTK | QREDEHSSEL | LKKNRANICG | QNPGPLIPQP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SSQQTPERKP | RLSEHCRLYF | GALFKAISAF | HGSLSSSQPA | EIITQSKLVI | MVGQKLVDTL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CMETQERDVR | NEILRGSSHL | CSLLKDVALA | TKNAVLTYPS | PAALGHLQAE | AEKLEQHTRQ |
| FRGTLG |