Q8NFW9
PR
Gene name |
MYRIP (SLAC2C) |
Protein name |
Rab effector MyRIP |
Names |
Exophilin-8, Myosin-VIIa- and Rab-interacting protein, Synaptotagmin-like protein lacking C2 domains C, SlaC2-c, Slp homolog lacking C2 domains c |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25924 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8NFW9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NFW9-F1 | Predicted | AlphaFoldDB |
688 variants for Q8NFW9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2328100 rs780652303 |
3 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs756564694 CA2328102 |
8 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2328103 rs199787982 |
11 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399143330 CA352323695 |
13 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA73486542 rs958006301 |
14 | E>D | No |
ClinGen Ensembl |
|
|
rs537964198 CA2328104 |
14 | E>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs769578941 CA352323714 |
16 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772908090 CA2328106 |
18 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749145946 CA2328108 |
20 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774329107 CA2328110 |
21 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770748646 CA2328109 |
21 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2328111 rs554067543 |
22 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150544621 CA73486544 |
25 | D>H | No |
ClinGen 1000Genomes |
|
|
CA2328112 rs764161961 |
26 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776777185 CA2328113 |
29 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761963096 CA2328114 |
29 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352323796 rs761963096 |
29 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765598624 CA2328115 COSM221231 |
30 | K>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1258365079 CA352323808 COSM3702423 |
31 | K>T | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 32 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328118 rs377655303 |
35 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352323837 rs377655303 |
35 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328119 rs766785561 COSM1044527 |
35 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA73502462 rs983203573 |
39 | L>P | No |
ClinGen gnomAD |
|
|
CA352323896 rs983203573 |
39 | L>R | No |
ClinGen gnomAD |
|
|
rs1035541350 CA73502463 |
40 | K>Q | No |
ClinGen TOPMed |
|
|
CA73502464 rs958854657 |
47 | G>A | No |
ClinGen TOPMed |
|
|
rs1296593743 CA352323952 |
47 | G>S | No |
ClinGen TOPMed |
|
|
rs1366342334 CA352323972 |
49 | K>T | No |
ClinGen TOPMed |
|
|
CA352324006 rs1262639210 |
53 | L>F | No |
ClinGen gnomAD |
|
|
rs753532246 CA73502467 |
54 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753532246 CA2328148 |
54 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352324026 rs973231349 |
56 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA73502468 rs973231349 |
56 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1470134335 CA352324036 COSM1422956 |
57 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA352324045 rs1559378041 |
58 | Q>* | No |
ClinGen Ensembl |
|
|
rs745767029 CA2328151 |
60 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144297756 CA2328153 |
62 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436200182 CA352324102 |
65 | M>L | No |
ClinGen gnomAD |
|
|
CA73502470 rs796334349 |
65 | M>S | No |
ClinGen Ensembl |
|
|
COSM171763 CA2328155 rs769986510 |
66 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2328156 rs773244750 |
66 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA73502471 rs987195148 |
69 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2328158 rs771378902 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2328159 rs771378902 |
70 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA352324155 rs1319739522 |
71 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 71 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328160 rs139785854 |
72 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373739656 CA2328161 |
72 | T>I | No |
ClinGen ESP ExAC |
|
|
rs1218310369 CA352324172 |
73 | F>L | No |
ClinGen TOPMed |
|
|
CA73502473 rs904769027 |
75 | V>A | No |
ClinGen Ensembl |
|
|
CA73502472 rs143603346 |
75 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143603346 CA2328163 |
75 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2328167 rs570449904 |
79 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328168 rs570449904 |
79 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758188416 CA2328169 |
79 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328166 rs570449904 |
79 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352324225 CA2328170 rs779965268 |
80 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328171 rs746972946 |
81 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA352324252 rs1477320865 |
84 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200269246 CA2328176 |
87 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200269246 CA2328177 |
87 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2328178 rs759972125 |
90 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352324306 rs1393524018 |
90 | K>N | No |
ClinGen gnomAD |
|
|
rs1456157188 CA352324311 |
91 | S>C | No |
ClinGen gnomAD |
|
|
rs772567291 CA2328179 |
92 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775801761 CA2328180 |
93 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs267599819 CA73502474 |
94 | S>F | No |
ClinGen Ensembl |
|
|
CA2328181 rs761265573 |
95 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs555930945 CA2328182 |
96 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328183 rs776177217 |
97 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2328184 rs199768420 |
98 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352324377 rs1255970721 |
99 | E>G | No |
ClinGen TOPMed |
|
|
CA2328185 rs764858695 |
99 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328187 rs78333608 |
100 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2328186 rs78333608 |
100 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352324385 rs78333608 |
100 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751407337 CA2328189 |
101 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2328192 rs572572991 COSM1422959 |
106 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2328195 rs564654381 COSM1581291 |
110 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA352324474 rs1470527525 |
111 | R>M | No |
ClinGen TOPMed |
|
|
rs1361730588 CA352324492 |
112 | L>F | No |
ClinGen gnomAD |
|
|
rs555961853 CA352324508 |
115 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555961853 CA2328224 |
115 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759373269 CA2328225 |
115 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA73556844 rs866719528 |
116 | Q>* | No |
ClinGen Ensembl |
|
|
rs373692660 CA2328227 |
117 | S>C | No |
ClinGen ESP ExAC |
|
|
CA352324541 rs760736279 |
120 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs760736279 CA2328228 |
120 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs138834975 CA73556855 |
122 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352324554 rs1370720863 |
122 | Y>H | No |
ClinGen TOPMed |
|
|
rs755495346 CA73556862 |
126 | K>R | No |
ClinGen gnomAD |
|
|
rs1254635184 CA352324590 |
127 | S>G | No |
ClinGen gnomAD |
|
|
CA2328231 rs199884040 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2328232 rs780253855 |
128 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328234 rs755354103 |
131 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138774955 CA2328235 |
131 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2328236 rs138774955 |
131 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778270393 CA2328238 |
134 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs748768884 CA2328239 |
134 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352324644 rs1441233252 |
135 | A>G | No |
ClinGen gnomAD |
|
|
CA2328241 rs774041930 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2328243 rs771871017 |
137 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs759162507 CA2328242 |
137 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352324669 rs1328467065 |
139 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2328245 rs760568948 |
140 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328248 rs763082394 |
143 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1393242136 CA352324701 |
144 | K>T | No |
ClinGen TOPMed |
|
|
rs200877774 CA2328249 |
145 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328252 rs200900937 |
146 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200900937 CA2328251 |
146 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374638880 CA2328250 |
146 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328254 rs756478916 |
148 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA352324731 rs1451984862 |
149 | S>R | No |
ClinGen TOPMed |
|
|
CA73557050 rs922087085 |
149 | S>T | No |
ClinGen Ensembl |
|
|
CA352324735 rs1167697698 |
150 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2328256 rs144178949 |
151 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328257 rs367917395 |
151 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352324744 rs1575578254 |
152 | C>G | No |
ClinGen Ensembl |
|
|
CA352324745 rs1258605623 |
152 | C>S | No |
ClinGen TOPMed |
|
|
rs142760932 CA2328261 |
154 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1422962 rs142760932 CA2328260 |
154 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746734351 CA2328262 |
155 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs768637569 CA2328263 |
155 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs776694510 CA2328264 |
156 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA352325235 rs1389096592 |
157 | G>E | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352324773 rs1233446956 |
157 | G>R | No |
ClinGen TOPMed |
|
|
CA2328284 rs769565434 |
159 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352325255 rs769565434 |
159 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175038120 CA352325280 |
161 | F>S | No |
ClinGen gnomAD |
|
|
CA2328285 rs773210409 |
162 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759611321 CA2328286 |
167 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2328287 rs767645534 |
171 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73563813 rs998890156 |
172 | S>P | No |
ClinGen Ensembl |
|
|
rs372732487 CA2328289 |
174 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1032998293 CA73563834 |
177 | T>A | No |
ClinGen Ensembl |
|
|
CA352325489 rs1344371839 |
178 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs544576214 CA2328291 |
178 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757654930 CA2328292 |
181 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1199264520 CA352325509 |
181 | Q>R | No |
ClinGen gnomAD |
|
|
CA2328313 rs763591576 |
184 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151294099 CA2328293 |
184 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA73565643 rs1043728342 |
185 | H>Y | No |
ClinGen Ensembl |
|
|
rs769976709 CA352325553 |
186 | S>I | No |
ClinGen gnomAD |
|
|
CA73565647 rs769976709 |
186 | S>N | No |
ClinGen gnomAD |
|
|
rs1215750472 CA352325568 |
188 | M>I | No |
ClinGen TOPMed |
|
|
rs751735850 CA352325590 |
191 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752457113 CA2328318 |
191 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs904466879 CA73565672 |
193 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2328320 rs777667312 |
193 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1000491108 CA73565686 |
194 | A>V | No |
ClinGen Ensembl |
|
|
CA2328322 rs530820987 |
195 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2328321 rs530820987 |
195 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2328325 rs185300013 |
196 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328324 rs185300013 |
196 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778836408 CA2328323 |
196 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352325637 rs1252104646 |
200 | E>D | No |
ClinGen gnomAD |
|
|
CA352325631 rs1559430498 |
200 | E>K | No |
ClinGen Ensembl |
|
|
CA352325643 rs1181403545 |
201 | A>G | No |
ClinGen gnomAD |
|
|
rs1483066792 CA352325641 |
201 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375600947 CA2328328 |
202 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352325652 rs1165288783 |
203 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328330 rs773668037 |
210 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1186240 rs763430506 CA2328331 |
211 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1409246805 CA352325713 |
212 | Y>H | No |
ClinGen gnomAD |
|
|
CA352325722 rs1357854257 |
213 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779875074 CA2328363 |
218 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs748198541 CA2328364 |
219 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1175982010 CA352325786 |
220 | N>S | No |
ClinGen gnomAD |
|
|
rs756148993 CA2328365 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA73565864 rs979439389 |
222 | A>V | No |
ClinGen Ensembl |
|
|
rs778133010 CA2328366 |
223 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA352325804 rs1321719960 |
223 | S>N | No |
ClinGen gnomAD |
|
|
rs368464079 CA2328368 |
226 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328367 rs749574702 |
226 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA352325825 rs774818767 |
227 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774818767 CA2328369 |
227 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328370 rs141961787 |
228 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352325836 rs1219240788 |
228 | H>R | No |
ClinGen gnomAD |
|
|
rs772574018 CA2328371 |
230 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754241715 CA73565877 |
231 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA352325888 rs760228904 |
236 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2328373 rs760228904 |
236 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1207090319 CA352325892 |
237 | A>P | No |
ClinGen gnomAD |
|
|
CA352325899 rs1248602092 |
238 | T>A | No |
ClinGen gnomAD |
|
|
CA2328374 rs763652387 |
238 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA352325903 rs1423145439 |
239 | T>A | No |
ClinGen gnomAD |
|
|
CA73565896 rs1045530607 |
240 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1472235149 CA352325910 |
240 | I>V | No |
ClinGen TOPMed |
|
|
CA352325924 rs1473880483 |
242 | Q>R | No |
ClinGen gnomAD |
|
|
CA73565905 rs1011119824 |
243 | K>R | No |
ClinGen TOPMed |
|
|
CA2328398 rs200937857 |
244 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352325948 rs1376148067 |
244 | I>V | No |
ClinGen gnomAD |
|
|
CA352325960 COSM1044535 rs1482400438 |
246 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs762800014 CA2328399 |
246 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751486570 CA2328401 |
251 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73567156 rs1009396969 |
252 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA73567159 rs1020780336 |
253 | E>G | No |
ClinGen TOPMed |
|
|
rs767123363 CA73567161 |
256 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2328402 rs759511424 |
259 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168751475 CA352326064 |
260 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2328403 rs767587141 |
260 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352326078 rs1372128105 |
262 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2328404 rs753914631 |
263 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA73567192 rs138667235 |
263 | P>T | No |
ClinGen ESP |
|
|
rs1340878131 CA352326085 |
264 | H>Y | No |
ClinGen gnomAD |
|
|
rs1446934841 CA352326097 |
265 | P>L | No |
ClinGen gnomAD |
|
|
rs757418634 CA2328405 |
269 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234594255 CA352326136 |
271 | K>E | No |
ClinGen gnomAD |
|
|
CA2328406 rs779194133 |
271 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352326140 rs1281990631 |
271 | K>R | No |
ClinGen gnomAD |
|
|
CA73567226 rs369561940 |
272 | V>L | No |
ClinGen Ensembl |
|
|
rs1274070422 CA352326148 |
273 | A>P | No |
ClinGen gnomAD |
|
|
CA2328409 rs780322465 |
278 | S>A | No |
ClinGen ExAC |
|
|
rs747405501 CA2328410 |
278 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352326185 rs1442217435 |
279 | A>T | No |
ClinGen gnomAD |
|
|
rs769100225 CA2328411 |
280 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs769100225 CA352326194 |
280 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs769100225 CA2328412 |
280 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs747587982 CA352326199 |
281 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747587982 CA2328413 |
281 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352326201 rs1450985343 |
282 | G>R | No |
ClinGen gnomAD |
|
|
rs142520074 CA2328414 |
285 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772903670 CA2328415 |
285 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376404162 CA73567264 |
288 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376404162 CA2328417 |
288 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352326705 rs1211234740 |
292 | R>T | No |
ClinGen gnomAD |
|
|
CA352326719 rs1166185405 |
294 | Q>R | No |
ClinGen TOPMed |
|
|
rs1575603091 CA352326728 |
295 | S>F | No |
ClinGen Ensembl |
|
|
CA352326731 rs1443528612 |
296 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751842154 CA2328445 |
296 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305265952 CA352326747 |
298 | S>L | No |
ClinGen gnomAD |
|
|
CA73572516 rs9858111 |
299 | I>T | No |
ClinGen Ensembl |
|
|
CA2328446 rs755317954 |
299 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352326753 rs1253808566 |
300 | T>A | No |
ClinGen gnomAD |
|
|
CA352326758 rs1359416608 |
300 | T>I | No |
ClinGen gnomAD |
|
|
rs1158230555 CA352326768 |
302 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA73572518 rs982939275 |
304 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352326797 rs1164000688 |
306 | K>N | No |
ClinGen gnomAD |
|
|
CA352326800 rs1203551735 |
307 | T>A | No |
ClinGen TOPMed |
|
|
rs1203551735 CA352326799 |
307 | T>P | No |
ClinGen TOPMed |
|
|
CA2328449 rs756531645 |
308 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1259914372 CA352326829 |
311 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 311 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328451 rs59923220 VAR_061755 |
312 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2328453 rs778695216 |
314 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1246568283 CA352326855 |
316 | Q>* | No |
ClinGen gnomAD |
|
|
rs952698227 CA73572571 |
318 | R>G | No |
ClinGen Ensembl |
|
|
CA73572600 rs984047330 |
319 | D>E | No |
ClinGen Ensembl |
|
|
CA2328455 rs771963574 |
319 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs370920634 CA2328456 |
320 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219687321 CA352326886 |
321 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746841406 CA2328457 |
322 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2328458 rs768420269 |
322 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs140013771 CA2328459 |
323 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1326462437 CA352326900 |
323 | H>Y | No |
ClinGen TOPMed |
|
|
CA2328460 rs144807590 RCV000974443 |
324 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144807590 CA2328461 |
324 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144807590 CA2328462 |
324 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767752118 CA2328464 |
325 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753005359 CA2328465 |
329 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1422961340 CA352326948 |
331 | P>H | No |
ClinGen gnomAD |
|
|
rs750421660 CA2328466 |
332 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73572630 rs180673808 |
337 | D>N | No |
ClinGen 1000Genomes |
|
|
rs1009502066 CA73572633 |
338 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA352327011 rs1312434751 |
340 | D>E | No |
ClinGen gnomAD |
|
|
CA2328470 rs778609132 |
340 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352327025 rs1191378108 |
342 | T>R | No |
ClinGen TOPMed |
|
|
CA73575527 rs529140495 |
343 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2328487 rs765865884 |
344 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2328488 rs749892750 |
348 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201253174 CA2328489 |
350 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA73575563 rs140385715 |
352 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200183044 CA2328491 |
352 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328493 rs151142713 CA2328494 |
353 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352327487 rs1281919355 |
355 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2328496 rs777694968 |
356 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1175914139 CA352327547 |
358 | L>P | No |
ClinGen gnomAD |
|
|
CA2328497 rs745947301 |
360 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2328498 rs772201288 |
361 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM98273 rs747295789 CA2328500 |
362 | A>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs896152269 CA73575613 |
364 | P>L | No |
ClinGen Ensembl |
|
|
CA73575610 rs1055224192 |
364 | P>T | No |
ClinGen TOPMed |
|
|
VAR_061756 CA2328504 rs55785561 |
365 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs55785561 CA2328505 |
365 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352327655 rs1286653984 |
365 | P>T | No |
ClinGen gnomAD |
|
|
CA2328507 rs762537921 |
366 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328508 rs765959404 |
367 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1229944003 CA352327692 |
367 | R>L | No |
ClinGen gnomAD |
|
|
CA352327689 rs1229944003 |
367 | R>Q | No |
ClinGen gnomAD |
|
|
CA2328510 rs754615369 |
368 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs752471787 CA2328512 |
369 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755973986 CA2328513 |
370 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2328514 rs777678691 |
373 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2328515 rs375215282 |
374 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352327818 rs758443012 |
374 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780143324 CA352327838 |
375 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780143324 CA2328517 |
375 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352327824 rs1160458604 |
375 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780143324 CA352327832 |
375 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328518 rs199926745 |
376 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2328521 rs776720800 |
379 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776720800 CA2328520 |
379 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352327949 rs1436495015 |
381 | E>D | No |
ClinGen gnomAD |
|
|
CA352327928 rs1372559928 |
381 | E>K | No |
ClinGen TOPMed |
|
|
rs773829266 CA2328523 |
383 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157304881 CA352327981 |
383 | A>V | No |
ClinGen gnomAD |
|
|
rs763591380 CA2328524 |
384 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1400513347 CA352327998 |
385 | S>G | No |
ClinGen TOPMed |
|
|
rs1170055952 CA352328017 |
386 | V>M | No |
ClinGen TOPMed |
|
|
CA352328036 rs1372278099 |
387 | A>V | No |
ClinGen gnomAD |
|
|
rs149582405 CA2328526 |
388 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758976423 CA2328527 |
389 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352328060 rs1160142080 |
390 | Y>D | No |
ClinGen Ensembl |
|
|
rs147537031 CA2328529 |
391 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352328079 rs1455918825 |
391 | D>V | No |
ClinGen TOPMed |
|
|
CA2328531 rs374697001 |
396 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374697001 CA352328144 |
396 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA73575700 rs144029253 COSM1422963 |
397 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs554979025 CA2328533 COSM1168998 |
398 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs140451395 CA2328536 |
400 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747042056 CA2328535 |
400 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2328534 rs778730905 |
400 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328537 rs199694741 |
402 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369126541 CA352328243 |
403 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369126541 CA2328538 |
403 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145492213 CA73575732 |
404 | S>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 404 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328539 rs199871876 |
405 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150509578 CA2328541 |
407 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1575610628 CA352328294 |
411 | C>G | No |
ClinGen Ensembl |
|
|
CA73575769 rs749499762 |
412 | P>L | No |
ClinGen gnomAD |
|
|
CA352328303 rs749499762 |
412 | P>R | No |
ClinGen gnomAD |
|
|
rs759076228 CA2328544 |
412 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393755957 CA352328307 |
413 | R>T | No |
ClinGen TOPMed |
|
|
CA2328547 rs572964879 |
415 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768793280 CA2328546 |
415 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753574679 CA2328549 |
416 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352328349 CA73575827 rs761515457 |
420 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1575610683 CA352328346 |
420 | N>T | No |
ClinGen Ensembl |
|
|
CA352328345 rs1182541341 |
420 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765214565 CA2328551 |
424 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA352328384 rs1395748550 |
426 | T>A | No |
ClinGen gnomAD |
|
|
CA352328401 rs1336009120 |
428 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575610726 CA352328446 |
433 | Q>R | No |
ClinGen Ensembl |
|
|
CA2328553 rs755063722 |
434 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs967684897 CA73575840 |
434 | G>S | No |
ClinGen TOPMed |
|
|
rs201578923 CA2328554 |
435 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1418659107 CA352328458 |
435 | P>S | No |
ClinGen TOPMed |
|
|
rs1367476880 CA352328487 |
437 | A>V | No |
ClinGen gnomAD |
|
|
rs376866623 CA2328555 |
439 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1575610760 CA352328506 |
439 | S>P | No |
ClinGen Ensembl |
|
|
CA352328518 rs1486641882 |
440 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1278061983 CA352328534 |
441 | S>C | No |
ClinGen TOPMed |
|
|
rs1054875673 CA73575895 |
443 | A>V | No |
ClinGen Ensembl |
|
|
rs374059686 CA2328557 |
444 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210357519 CA352328577 |
445 | S>F | No |
ClinGen gnomAD |
|
|
CA352328601 rs1353784879 |
448 | P>T | No |
ClinGen TOPMed |
|
|
CA2328559 rs141095599 |
451 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352328642 rs1279803796 |
451 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs141095599 CA2328558 |
451 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328560 rs761897118 |
455 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352328720 rs1420443158 |
457 | T>N | No |
ClinGen TOPMed |
|
|
CA352328718 rs1374209953 |
457 | T>S | No |
ClinGen TOPMed |
|
|
rs1193331115 CA352328735 |
458 | S>F | No |
ClinGen gnomAD |
|
|
CA73575933 rs917592220 |
458 | S>P | No |
ClinGen TOPMed |
|
|
CA2328564 rs774933545 |
460 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1044537 CA2328563 rs772665894 |
460 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA352328755 rs774933545 |
460 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328565 rs760193647 |
462 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352328769 rs1575610879 |
462 | S>P | No |
ClinGen Ensembl |
|
|
rs201714577 CA73575952 |
464 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs149356378 CA73575959 |
464 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1317801173 CA352328819 |
466 | V>D | No |
ClinGen gnomAD |
|
|
CA2328567 rs138572237 |
467 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138572237 CA352328827 |
467 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs887816556 CA73575978 |
469 | Q>E | No |
ClinGen TOPMed |
|
|
rs1439230663 CA352328866 |
470 | A>D | No |
ClinGen gnomAD |
|
|
rs1284444476 CA352328877 |
471 | R>T | No |
ClinGen gnomAD |
|
|
rs1285783419 CA352328887 |
472 | L>P | No |
ClinGen TOPMed |
|
|
CA2328568 rs200664402 |
473 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2328569 rs764989184 |
476 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750342902 CA2328570 |
477 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA352328947 rs1265628961 |
477 | R>K | No |
ClinGen TOPMed |
|
|
rs1205340697 CA352328988 |
481 | R>M | No |
ClinGen gnomAD |
|
|
CA352328997 rs1444708900 |
482 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1260448999 CA352328994 |
482 | N>S | No |
ClinGen gnomAD |
|
|
CA2328573 rs377657833 |
483 | P>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs377657833 CA2328572 |
483 | P>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA352329003 rs1559443340 |
484 | A>T | No |
ClinGen Ensembl |
|
|
CA2328574 rs756264741 |
485 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778130848 CA2328575 |
486 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328576 rs754060180 |
486 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413892221 CA352329041 |
487 | K>N | No |
ClinGen gnomAD |
|
|
CA352329054 rs1328661530 |
488 | M>I | No |
ClinGen TOPMed |
|
|
CA352329050 rs1401181514 |
488 | M>T | No |
ClinGen TOPMed |
|
|
rs199718064 CA2328578 |
489 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2328579 rs147310369 |
489 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328577 rs199718064 |
489 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328582 rs778511057 |
494 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328584 rs776243167 |
496 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328586 rs747794621 |
499 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336666055 CA352329197 |
500 | P>T | No |
ClinGen gnomAD |
|
|
rs772830284 CA2328587 |
501 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328589 rs200724387 |
502 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328590 rs774489787 |
503 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352329248 rs1559443444 |
504 | S>I | No |
ClinGen Ensembl |
|
|
rs760818351 CA2328591 |
505 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1575611058 CA352329265 |
507 | T>P | No |
ClinGen Ensembl |
|
|
CA73576093 rs1010215407 |
508 | S>L | No |
ClinGen gnomAD |
|
|
rs141497737 CA2328594 |
509 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1537849 CA73576111 rs979372496 |
512 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2328596 rs199860359 COSM187788 |
513 | P>L | oesophagus large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1559443483 CA352329342 |
513 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs780523897 CA2328598 |
514 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs990980106 CA73576119 |
515 | E>G | No |
ClinGen gnomAD |
|
|
CA2328599 rs747563201 |
516 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754453548 CA2328600 |
516 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328601 rs780527214 |
517 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780527214 CA352329708 |
517 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 518 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 518 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328603 rs769272523 |
518 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352329723 rs1281285430 |
520 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352329734 rs749029630 |
521 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393957356 CA352329729 |
521 | D>H | No |
ClinGen TOPMed |
|
|
rs370580889 CA2328607 |
522 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753608593 CA73576187 |
522 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753608593 CA73576173 |
522 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753608593 CA2328608 |
522 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328606 rs370580889 |
522 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143471880 COSM387318 CA2328610 |
523 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145932242 COSM1044539 CA2328609 |
523 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1425838995 CA352329743 |
524 | A>G | No |
ClinGen gnomAD |
|
|
rs1425838995 CA352329744 |
524 | A>V | No |
ClinGen gnomAD |
|
|
rs1466900042 CA352329746 |
525 | R>W | No |
ClinGen TOPMed |
|
|
CA352329756 rs1575611202 |
526 | R>K | No |
ClinGen Ensembl |
|
|
CA2328613 rs750713231 |
527 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs758736678 CA2328614 |
529 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA352329785 rs766766767 |
530 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328615 rs766766767 |
530 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328616 rs751948342 |
531 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755428435 CA2328617 |
531 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73576242 rs976204879 |
533 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352329798 rs976204879 |
533 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1381439076 CA352329801 |
534 | S>P | No |
ClinGen gnomAD |
|
|
rs1051865346 CA73576247 |
535 | E>K | No |
ClinGen gnomAD |
|
|
CA73576251 rs923135029 |
538 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2328621 rs532025468 |
538 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748990889 CA2328622 |
541 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748990889 CA2328623 |
541 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1326530306 CA352329851 |
541 | P>S | No |
ClinGen TOPMed |
|
|
rs745676606 CA2328625 |
543 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352329865 rs1204582485 |
544 | P>A | No |
ClinGen gnomAD |
|
|
rs1242706007 CA352329869 |
544 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2328626 rs375455251 |
545 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352329878 rs761788892 |
546 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328628 COSM1617575 rs761788892 |
546 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1420308229 CA352329886 |
547 | Q>R | No |
ClinGen gnomAD |
|
|
CA352329892 rs1428496795 |
548 | L>F | No |
ClinGen gnomAD |
|
|
CA352329895 rs1394162269 |
548 | L>P | No |
ClinGen TOPMed |
|
|
CA2328630 rs139499499 |
549 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2328629 rs769963893 |
549 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1559443799 CA352329902 |
550 | D>V | No |
ClinGen Ensembl |
|
|
rs751862700 CA2328633 |
553 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA352329927 rs1404956727 |
554 | H>N | No |
ClinGen gnomAD |
|
|
rs1404956727 CA352329926 |
554 | H>Y | No |
ClinGen gnomAD |
|
|
CA2328651 rs201954262 |
557 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 558 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403407003 CA352324798 |
558 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352324819 rs1376174547 |
560 | L>F | No |
ClinGen Ensembl |
|
|
CA2328653 rs767966275 |
561 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178597684 CA352324855 |
566 | S>G | No |
ClinGen gnomAD |
|
|
CA2328655 rs368575093 |
566 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352324866 rs764522848 |
567 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192339907 CA352324868 |
567 | N>K | No |
ClinGen TOPMed |
|
|
rs764522848 CA2328656 |
567 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756898243 CA2328658 |
569 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs146905729 CA352324883 |
570 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328661 rs146905729 |
570 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328660 rs146905729 |
570 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764972670 CA2328659 |
570 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA73598163 COSM36739 rs267599820 |
572 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA352324893 rs267599820 |
572 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1337744495 CA352324900 |
573 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328663 rs746799301 |
575 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA73598169 rs1014544322 |
579 | T>A | No |
ClinGen Ensembl |
|
|
rs1279892716 CA352324947 |
580 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781112493 CA2328665 |
581 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328664 rs754882957 |
581 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1692625 CA73598175 rs1003941830 |
583 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM222793 rs771346658 CA2328666 |
583 | R>W | skin prostate Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772207839 CA2328670 |
589 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772207839 CA352325001 |
589 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440036971 CA352325017 |
591 | A>T | No |
ClinGen gnomAD |
|
|
rs1415579679 CA352325025 |
592 | M>T | No |
ClinGen gnomAD |
|
|
rs1408778464 CA352325042 |
594 | M>T | No |
ClinGen Ensembl |
|
|
CA352325050 rs1205706984 |
595 | S>N | No |
ClinGen gnomAD |
|
|
rs1232658235 CA352325059 |
596 | E>G | No |
ClinGen gnomAD |
|
|
CA73598179 rs865804876 |
598 | E>K | No |
ClinGen Ensembl |
|
|
CA2328672 rs142450900 CA2328673 |
602 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430873223 CA352325099 |
602 | G>V | No |
ClinGen TOPMed |
|
|
rs972793478 CA73598197 |
610 | K>E | No |
ClinGen TOPMed |
|
|
CA352325156 rs1233785668 |
610 | K>R | No |
ClinGen TOPMed |
|
|
CA2328675 rs761387097 |
614 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749980625 CA2328677 |
618 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA352325211 rs1411590438 |
618 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA352325218 rs1329365580 |
619 | S>G | No |
ClinGen gnomAD |
|
|
rs868216297 CA73598255 |
622 | S>F | No |
ClinGen Ensembl |
|
|
rs139816637 CA73598258 |
623 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs139816637 CA352325267 |
623 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA2328681 rs377647150 |
624 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352325297 rs1224128851 |
625 | N>D | No |
ClinGen TOPMed |
|
|
rs1342164662 CA352325350 |
628 | S>N | No |
ClinGen gnomAD |
|
|
CA73598302 rs369802580 |
633 | L>R | No |
ClinGen Ensembl |
|
|
rs563463558 CA2328684 |
634 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767339062 CA2328700 |
637 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs752512861 CA2328701 |
640 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1476781758 CA352326312 |
642 | L>V | No |
ClinGen gnomAD |
|
|
CA352326329 rs1201398097 |
644 | N>S | No |
ClinGen gnomAD |
|
|
rs1470975774 CA352326335 |
645 | I>V | No |
ClinGen TOPMed |
|
|
rs755990137 CA2328702 |
653 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA352326395 rs150803573 |
654 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328703 rs150803573 |
654 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352326400 rs1317695724 |
655 | A>D | No |
ClinGen gnomAD |
|
|
CA2328704 rs750513218 |
655 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775940065 CA2328705 |
659 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574391847 CA2328707 |
660 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574391847 CA2328706 |
660 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769028051 CA2328708 |
661 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328710 rs553832907 |
662 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328709 rs553832907 |
662 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2328711 rs770354990 |
663 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2328713 rs762511633 |
664 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2328714 rs770394961 |
665 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2328715 rs138241119 |
666 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545211502 CA2328716 |
668 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371033355 CA2328718 |
671 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558420337 CA2328719 |
672 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2328720 rs34800524 VAR_051717 |
673 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1559468646 CA352326513 |
674 | P>R | No |
ClinGen Ensembl |
|
|
rs958162365 CA73611739 |
674 | P>S | No |
ClinGen TOPMed |
|
|
CA2328721 rs764083813 |
675 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764083813 CA352326516 |
675 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352326517 rs764083813 |
675 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73611744 rs774900671 |
676 | R>K | No |
ClinGen Ensembl |
|
|
CA352326535 rs1470634435 |
677 | Q>H | No |
ClinGen gnomAD |
|
|
CA352326542 rs1440329227 |
678 | K>M | No |
ClinGen Ensembl |
|
|
rs1358644122 CA352326549 |
679 | G>A | No |
ClinGen gnomAD |
|
|
rs1304240089 CA352326555 |
680 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758475526 CA2328723 |
683 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201322608 CA2328724 |
683 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337230036 CA352326604 |
687 | Q>H | No |
ClinGen gnomAD |
|
|
rs755190296 CA2328726 |
688 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781564902 CA2328727 |
689 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1559468729 CA352326615 |
689 | R>S | No |
ClinGen Ensembl |
|
|
rs748514972 CA2328728 |
692 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749797124 CA2328731 |
693 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2328730 rs201370387 |
693 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490159158 CA352326640 |
693 | Q>R | No |
ClinGen gnomAD |
|
|
CA352326652 rs1252393711 |
695 | T>I | No |
ClinGen gnomAD |
|
|
rs773678497 CA2328733 |
696 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1575675369 CA352327376 |
702 | Y>S | No |
ClinGen Ensembl |
|
|
CA352327407 rs1385926765 |
704 | A>E | No |
ClinGen gnomAD |
|
|
rs1288224701 CA352327429 |
706 | G>D | No |
ClinGen TOPMed |
|
|
CA2328753 rs367964209 |
708 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA352327466 rs1168950583 |
709 | Y>H | No |
ClinGen gnomAD |
|
|
CA352327497 rs1216803614 |
710 | G>V | No |
ClinGen TOPMed |
|
|
rs746627144 CA2328754 |
716 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1575675443 CA352327610 |
717 | E>A | No |
ClinGen Ensembl |
|
|
CA2328755 rs768380883 |
719 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768380883 CA352327644 |
719 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352327682 rs1351577141 |
721 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 721 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323585578 CA352327688 |
721 | A>V | No |
ClinGen TOPMed |
|
|
CA352327701 rs1263137242 |
722 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1263137242 CA352327699 |
722 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs145458813 CA2328758 |
723 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773336851 CA2328759 |
723 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352327727 rs1325995711 |
724 | C>G | No |
ClinGen gnomAD |
|
|
rs752854637 CA2328762 |
728 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs764383453 CA2328764 |
729 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs148386271 CA2328766 |
731 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2328768 rs541077128 |
731 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 735 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201563385 CA2328769 |
735 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290086354 CA352327984 |
737 | L>V | No |
ClinGen gnomAD |
|
|
rs1399310833 CA352328026 |
740 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1182413814 CA352328054 |
742 | A>T | No |
ClinGen gnomAD |
|
|
CA2328773 rs780960761 |
743 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352328123 rs1575675627 |
747 | Q>P | No |
ClinGen Ensembl |
|
|
rs769678881 CA2328775 |
749 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73617855 rs898090965 |
749 | H>Y | No |
ClinGen TOPMed |
|
|
CA2328776 rs773252470 |
750 | H>R | No |
ClinGen ExAC |
|
|
rs762942295 CA2328777 |
751 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332930303 CA352328209 |
753 | L>R | No |
ClinGen TOPMed |
|
|
rs749108505 CA2328794 |
761 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368099984 CA2328793 |
761 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770988659 CA2328795 |
763 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA73621154 rs200996750 |
765 | L>V | No |
ClinGen 1000Genomes |
|
|
rs774487741 CA2328796 |
767 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477772035 CA352329401 |
767 | I>V | No |
ClinGen TOPMed |
|
|
CA2328797 rs760651064 |
768 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352329409 rs1575682286 |
768 | A>V | No |
ClinGen Ensembl |
|
|
rs762048286 CA2328800 |
769 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2328799 rs371464654 |
769 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352329433 rs1387050566 |
772 | I>T | No |
ClinGen gnomAD |
|
|
rs1479634462 CA352329430 |
772 | I>V | No |
ClinGen TOPMed |
|
|
rs1163878181 CA352329441 |
773 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352329436 rs1405874414 |
773 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2328801 rs765462733 |
774 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1481752129 CA352329444 |
774 | P>S | No |
ClinGen TOPMed |
|
|
rs1346607920 CA352329449 |
775 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766854461 CA2328804 |
776 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192146282 CA2328805 |
777 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1422971 rs1317250226 CA352329462 |
777 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA352329463 rs1317250226 |
777 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs754413896 CA2328806 |
778 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA352329492 rs759560655 |
782 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752170706 CA2328808 |
782 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1258614 CA2328807 rs759560655 |
782 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1391549431 CA352329538 |
788 | T>I | No |
ClinGen TOPMed |
|
|
rs777637124 CA2328810 |
788 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2328828 rs753586232 |
790 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA352329568 rs1304352582 |
791 | Q>R | No |
ClinGen TOPMed |
|
|
rs1476968377 CA352329579 |
793 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2328829 rs757002630 |
795 | T>R | No |
ClinGen ExAC |
|
|
rs1382802716 CA352329599 |
796 | S>T | No |
ClinGen TOPMed |
|
|
CA2328830 rs778723265 |
797 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352329630 rs1414024359 |
800 | R>M | No |
ClinGen gnomAD |
|
|
rs1219379539 CA352329635 |
801 | R>K | No |
ClinGen gnomAD |
|
|
CA352329646 rs758292980 |
802 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs762624767 CA73621306 |
804 | P>S | No |
ClinGen Ensembl |
|
|
rs142912191 CA2328834 |
805 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142912191 CA73621311 |
805 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769906062 CA2328835 |
806 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2328836 rs773389403 |
806 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2328838 rs371006698 |
807 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138568525 CA2328837 |
807 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759822909 CA2328840 |
808 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764806355 CA2328850 |
813 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352329973 rs1382914278 |
813 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 816 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2328851 rs750232179 |
816 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352329993 rs750232179 |
816 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758181915 CA2328852 |
817 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1451266049 CA352330003 |
818 | V>E | No |
ClinGen gnomAD |
|
|
CA2328853 CA73622245 rs780015293 |
818 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328854 rs200695832 |
820 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379075822 CA352330021 |
821 | I>T | No |
ClinGen gnomAD |
|
|
CA352330037 rs1164216459 |
823 | T>I | No |
ClinGen gnomAD |
|
|
CA2328858 rs144433719 |
830 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1049645119 CA73622279 |
833 | S>P | No |
ClinGen Ensembl |
|
|
rs943896981 CA73622284 |
834 | S>L | No |
ClinGen gnomAD |
|
|
rs746222144 CA2328860 |
835 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1370303822 CA352330130 |
837 | R>K | No |
ClinGen TOPMed |
|
|
CA352330141 rs1351489551 |
839 | K>E | No |
ClinGen gnomAD |
|
|
CA352330181 rs1440645199 |
844 | T>I | No |
ClinGen TOPMed |
|
|
CA352330182 rs1440645199 |
844 | T>N | No |
ClinGen TOPMed |
|
|
COSM1692627 rs1355326891 CA352330196 |
846 | K>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA352330206 rs1215481557 |
848 | L>V | No |
ClinGen TOPMed |
|
|
rs1275431256 CA352330212 |
849 | M>L | No |
ClinGen gnomAD |
|
|
rs1443751350 CA352330240 |
851 | P>T | No |
ClinGen TOPMed |
|
|
CA2328874 rs755563768 |
852 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2328876 rs753909093 |
853 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2328875 rs781112378 |
853 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2328877 rs367783683 |
855 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352330284 rs1169466208 |
858 | M>R | No |
ClinGen gnomAD |
|
|
CA2328879 rs779165544 |
858 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352330293 rs1436781925 |
859 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746039116 CA2328880 |
859 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8NFW9
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| dense core granule | Electron-dense organelle with a granular internal matrix; contains proteins destined to be secreted. |
| exocyst | A protein complex peripherally associated with the plasma membrane that determines where vesicles dock and fuse. At least eight complex components are conserved between yeast and mammals. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| myosin binding | Binding to a myosin; myosins are any of a superfamily of molecular motor proteins that bind to actin and use the energy of ATP hydrolysis to generate force and movement along actin filaments. |
| protein kinase A binding | Binding to a protein kinase A. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| zinc ion binding | Binding to a zinc ion (Zn). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRKLDLSGL | TDDETEHVLQ | VVQRDFNLRK | KEEERLSELK | QKLDEEGSKC | SILSKHQQFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EHCCMRCCSP | FTFLVNTKRQ | CGDCKFNVCK | SCCSYQKHEK | AWVCCVCQQA | RLLRAQSLEW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FYNNVKSRFK | RFGSAKVLKN | LYRKHRLESG | ACFDILGGSL | FESNLENEGS | ISGSDSTFYR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSEGHSVMDT | LAVALRVAEE | AIEEAISKAE | AYGDSLDKQN | EASYLRDHKE | ELTEELATTI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQKIIRKQKS | KSEQQVEEEP | GWPHPQSCST | KVADEGTSAS | PGGYRAPAAL | WRSQSAFSIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GEEALKTPPV | EAPSRQPRDQ | GQHPRAESAL | PSWKSVDRLD | ETNLAPVLQS | PDGNWVALKD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GAPPPTRLLA | KPKSGTFQAL | EVASSVASAY | DEMGSDSEED | FDWSEALSKL | CPRSRALPRN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PQPQPTQAQS | SDQGPIAASP | SSALSPNPEA | MCSDSETSSA | GSSREVGHQA | RLSWLQRKAP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RNPAAEKMRL | HGELDVNFNP | QLASRETSDS | SEPEEAPHTT | DRRARRWRRA | RLGSEEPSKE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSSPSAQLRD | LDTHQVSDDL | SETDISNEAR | DPQTLTDTTE | EKRRNRLYEL | AMKMSEKETS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGEDQESEPK | TESENQKESL | SSEDNSQSVQ | EELKKKFSAV | SLCNISTEVL | KVINATEELI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AGSTGPWESP | QVPPDRQKGM | FPRGTDQVRL | DEQLTSLEEN | VYLAAGTVYG | LETQLTELED |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AARCIHSGTD | ETHLADLEDQ | VATAAAQVHH | AELQISDIES | RISALTIAGL | NIAPCVRFTR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RRDQKQRTQV | QTIDTSRQQR | RKLPAPPVKA | EKIETSSVTT | IKTFNHNFIL | QGSSTNRTKE |
| 850 | |||||
| RKGTTKDLME | PALESAVMY |