Q9UK96
PR
Gene name |
FBXO10 (FBX10, PRMT11) |
Protein name |
F-box only protein 10 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26267 |
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 Q9UK96
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UK96-F1 | Predicted | AlphaFoldDB |
751 variants for Q9UK96
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs529842963 CA5060947 |
5 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs367751515 CA5060945 |
8 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA192942324 rs958471612 |
12 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768066589 CA5060943 |
12 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373463063 rs1347927108 |
13 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373463048 rs1304201679 |
14 | I>V | No |
ClinGen gnomAD |
|
|
rs1035998249 CA192942317 |
15 | L>* | No |
ClinGen TOPMed |
|
|
rs774808879 CA5060941 |
17 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771475795 CA5060940 |
19 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA373462898 rs1206306092 |
19 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749603980 CA5060939 |
20 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs756289898 CA5060937 |
25 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429898358 CA373462685 |
29 | V>L | No |
ClinGen gnomAD |
|
|
rs1563879191 CA918450050 |
30 | C>* | No |
ClinGen Ensembl |
|
|
rs777323467 CA373462651 |
31 | R>G | No |
ClinGen Ensembl |
|
|
CA373462632 rs1002346899 |
32 | A>S | No |
ClinGen TOPMed |
|
|
rs1002346899 CA192942295 |
32 | A>T | No |
ClinGen TOPMed |
|
|
rs748328440 CA5060936 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1468387523 CA373462593 |
34 | Y>C | No |
ClinGen gnomAD |
|
|
rs1588843153 CA373462575 |
35 | E>K | No |
ClinGen Ensembl |
|
|
CA373462477 rs1186015105 |
40 | L>F | No |
ClinGen TOPMed |
|
|
rs1588843139 CA373462425 |
42 | S>T | No |
ClinGen Ensembl |
|
|
CA373462406 rs1206842252 |
43 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755003665 CA5060934 |
43 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA373462414 rs1206842252 |
43 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs186372944 CA192942282 |
44 | R>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs780121584 CA5060932 VAR_070692 |
44 | R>H | found in a patient with lymphoma; inhibits interaction with SKP1 [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs780121584 CA5060933 |
44 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373462379 rs1588843112 |
45 | W>G | No |
ClinGen Ensembl |
|
|
CA5060931 rs758435469 |
46 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588843096 CA373462307 |
49 | C>G | No |
ClinGen Ensembl |
|
|
rs1371583384 CA373462301 |
49 | C>Y | No |
ClinGen gnomAD |
|
|
CA373462267 rs373616919 |
51 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060929 rs373616919 |
51 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560729055 CA5060928 |
53 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5060926 rs201365236 |
54 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588843067 CA373462197 |
55 | C>G | No |
ClinGen Ensembl |
|
|
CA373462174 rs1383183987 |
56 | R>C | No |
ClinGen Ensembl |
|
|
rs370466768 CA5060925 |
56 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1158425571 CA373462160 |
57 | H>P | No |
ClinGen Ensembl |
|
|
CA5060924 rs775002988 |
59 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060922 rs181709089 |
63 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373462043 rs1292217954 |
63 | Q>R | No |
ClinGen TOPMed |
|
|
CA5060921 rs773504050 |
69 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373461903 rs1242801162 |
71 | W>C | No |
ClinGen TOPMed |
|
|
CA5060920 rs770038663 |
73 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373461873 rs1486920570 |
74 | A>T | No |
ClinGen TOPMed |
|
|
CA192942231 rs374407160 |
77 | Q>E | No |
ClinGen ESP |
|
|
CA5060917 rs768975707 |
82 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA192942217 rs746246737 |
84 | T>K | No |
ClinGen Ensembl |
|
|
rs1215758682 CA373461700 |
85 | W>R | No |
ClinGen gnomAD |
|
|
CA373461688 rs1385231923 |
86 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780314084 CA5060915 |
88 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs750401326 CA5060913 |
93 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs778968357 CA5060912 |
95 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760349337 CA5060908 |
102 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060906 rs371131103 |
102 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060907 rs371131103 |
102 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060909 rs760349337 |
102 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188938296 CA5060905 |
103 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373461300 rs1436728936 |
107 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5060904 rs377020655 |
107 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5060903 rs770369002 |
108 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1446530321 CA373461278 |
108 | R>H | No |
ClinGen gnomAD |
|
|
rs112964036 CA192942164 CA5060902 |
111 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373461248 rs1243767367 |
111 | S>R | No |
ClinGen gnomAD |
|
|
CA373461242 rs1285762118 |
111 | S>T | No |
ClinGen TOPMed |
|
|
rs749588764 CA192942157 |
116 | R>C | No |
ClinGen TOPMed |
|
|
CA5060900 rs370987051 |
116 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373461173 rs370987051 |
116 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747241499 CA5060899 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373004926 CA5060897 |
119 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373004926 CA373461114 |
119 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746012187 CA5060896 |
120 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA192942140 rs756263061 |
121 | L>M | No |
ClinGen Ensembl |
|
|
CA5060895 rs778685696 |
123 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs757241559 CA5060894 |
124 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA373461000 rs1564344385 |
126 | A>V | No |
ClinGen Ensembl |
|
|
CA5060893 rs748996556 |
127 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289327804 CA373460992 |
127 | M>V | No |
ClinGen gnomAD |
|
|
CA373460915 rs1426859029 |
131 | Y>C | No |
ClinGen gnomAD |
|
|
CA192942122 rs990335480 |
133 | R>* | No |
ClinGen gnomAD |
|
|
CA373460881 rs752526134 |
133 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752526134 CA5060891 |
133 | R>Q | Variant assessed as Somatic; 9.285e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373460870 rs1176261954 |
134 | I>T | No |
ClinGen TOPMed |
|
|
rs944499853 CA192942116 |
135 | V>M | No |
ClinGen TOPMed |
|
|
rs752330787 CA5060890 |
136 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060889 rs767220486 |
137 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5060887 rs751134600 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373460769 rs1405210957 |
144 | Q>E | No |
ClinGen TOPMed |
|
|
CA5060885 rs201749348 |
145 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765616110 CA5060886 |
145 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5060884 rs201749348 |
145 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1250392087 CA373460677 |
150 | K>Q | No |
ClinGen gnomAD |
|
|
rs764568911 CA5060883 |
152 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1588842778 CA373460588 |
154 | E>D | No |
ClinGen Ensembl |
|
|
rs1308708697 CA373460572 |
155 | I>M | No |
ClinGen gnomAD |
|
|
CA192942088 rs1002378124 |
156 | V>L | No |
ClinGen gnomAD |
|
|
rs1588842752 CA373460518 |
159 | G>E | No |
ClinGen Ensembl |
|
|
rs761180631 CA5060882 |
159 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373460522 rs761180631 |
159 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921534019 CA192942080 |
160 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs539136257 CA5060881 |
160 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5060879 rs745893588 |
161 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA373460488 rs1356285097 |
162 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373460496 rs1460554150 |
162 | G>S | No |
ClinGen gnomAD |
|
|
CA373460469 rs1221693647 |
163 | E>G | No |
ClinGen TOPMed |
|
|
CA373460478 rs1352579509 |
163 | E>K | No |
ClinGen TOPMed |
|
|
CA5060878 rs774519381 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5060877 rs770705601 |
167 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs749259955 CA5060876 |
169 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060875 rs777626299 |
169 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755896227 CA5060874 |
169 | S>R | No |
ClinGen ExAC |
|
|
rs777626299 CA373460394 |
169 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747974142 CA5060873 |
170 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373460347 rs1193653124 |
172 | Q>E | No |
ClinGen gnomAD |
|
|
rs780797625 CA5060872 |
173 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5060870 rs200218427 |
178 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765920631 CA5060869 |
178 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1223913789 CA373460218 |
179 | L>P | No |
ClinGen gnomAD |
|
|
CA5060868 rs757650544 |
180 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5060867 rs754358082 |
180 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5060866 rs764767011 |
181 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764767011 CA373460182 |
181 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA5060864 rs201749823 |
183 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060863 rs368530132 |
185 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 185 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192942000 rs977901575 |
186 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1466881749 CA373460086 |
187 | A>S | No |
ClinGen gnomAD |
|
|
CA5060860 rs771028884 |
189 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA5060859 rs371297395 |
190 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060857 rs769768842 |
193 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5060858 rs773098602 |
193 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA373459971 rs773098602 |
193 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA192941991 rs1037718245 |
193 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs899895298 CA192940911 |
196 | T>A | No |
ClinGen gnomAD |
|
|
CA373459581 rs1302165053 |
199 | G>R | No |
ClinGen gnomAD |
|
|
rs200914859 CA5060825 |
201 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200914859 CA5060824 |
201 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5060823 rs766571365 |
203 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5060822 rs542498022 |
205 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195156904 CA373459503 |
206 | C>Y | No |
ClinGen gnomAD |
|
|
rs1267986401 CA373459487 |
207 | N>K | No |
ClinGen gnomAD |
|
|
CA5060821 rs750439895 |
207 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373459469 rs1489931658 |
209 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373459476 rs1219968854 |
209 | E>K | No |
ClinGen gnomAD |
|
|
CA5060819 CA5060817 rs776546467 |
211 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5060816 rs7044561 VAR_055801 RCV000968643 |
212 | H>N | found in a patient with lymphoma [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1397481011 CA373459441 |
212 | H>R | No |
ClinGen Ensembl |
|
|
rs370211193 CA5060814 |
218 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341669831 CA373459361 |
220 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 220 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283120649 CA373459329 |
223 | V>M | No |
ClinGen gnomAD |
|
|
rs745529459 CA5060811 |
226 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs774202887 CA5060810 |
227 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770559384 CA373459292 |
227 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770559384 CA5060809 |
227 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373459272 rs1330072437 |
229 | K>E | No |
ClinGen TOPMed |
|
|
rs77638137 CA192940866 |
230 | N>K | No |
ClinGen Ensembl |
|
|
rs748844088 CA5060808 |
231 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375383268 CA5060806 |
232 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745871253 CA192940858 |
236 | H>N | No |
ClinGen Ensembl |
|
|
rs1303086057 CA373459173 |
237 | N>D | No |
ClinGen TOPMed |
|
|
CA5060804 rs61731259 |
237 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558348320 CA373459159 |
238 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5060802 rs558348320 |
238 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1437332506 CA373459134 |
240 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 245 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192940835 rs780869949 |
246 | C>* | No |
ClinGen gnomAD |
|
|
CA373459087 rs1200600313 |
246 | C>R | No |
ClinGen gnomAD |
|
|
rs1222091817 CA373459066 |
248 | F>L | No |
ClinGen gnomAD |
|
|
CA5060797 rs753970654 |
250 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5060796 rs566245627 |
252 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564342742 CA373459008 |
257 | T>S | No |
ClinGen Ensembl |
|
|
CA373459002 rs1332837445 |
258 | V>F | No |
ClinGen gnomAD |
|
|
rs1211794788 CA373458985 |
260 | G>V | No |
ClinGen TOPMed |
|
|
rs775296496 CA5060794 |
261 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200742597 CA5060792 |
264 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373458961 rs1373742285 |
264 | A>V | No |
ClinGen gnomAD |
|
|
CA5060790 rs770753607 |
266 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA373458889 rs1407616332 |
274 | L>R | No |
ClinGen gnomAD |
|
|
CA373458879 rs1458232133 |
276 | L>H | No |
ClinGen gnomAD |
|
|
CA5060787 rs769143516 |
281 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780670723 CA5060785 |
283 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5060783 rs371960872 |
286 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779086210 CA5060782 |
289 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060781 rs757493512 |
291 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373458764 rs1381321966 |
293 | M>I | No |
ClinGen gnomAD |
|
|
CA373458752 rs1325908531 |
295 | L>R | No |
ClinGen TOPMed |
|
|
rs1450200346 CA373458728 |
299 | S>C | No |
ClinGen gnomAD |
|
|
rs1359669931 CA373458723 |
299 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756275369 CA5060778 |
300 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778737592 CA5060779 |
300 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373458698 rs1324355073 |
303 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5060777 rs368622780 |
306 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs567271812 CA5060776 |
307 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373458666 rs1384748940 |
308 | T>S | No |
ClinGen gnomAD |
|
|
CA192940787 rs997926437 |
310 | D>H | No |
ClinGen TOPMed |
|
|
rs759380604 CA5060775 |
311 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484548171 CA373458641 |
312 | V>I | No |
ClinGen gnomAD |
|
|
rs774305694 CA5060774 |
313 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1445595119 CA373458629 |
314 | E>K | No |
ClinGen gnomAD |
|
|
CA5060772 rs762696584 |
317 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs772723219 CA5060771 |
317 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1358273502 CA373458599 |
318 | S>G | No |
ClinGen gnomAD |
|
|
rs769176618 CA5060770 |
318 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55952920 CA192940771 |
319 | P>H | No |
ClinGen TOPMed |
|
|
CA373458591 rs55952920 |
319 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 320 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 321 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761457428 CA5060769 |
321 | S>T | No |
ClinGen ExAC |
|
|
rs550553671 CA5060768 |
322 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772617225 CA5060767 |
323 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428422974 CA373458556 |
325 | S>T | No |
ClinGen gnomAD |
|
|
CA5060764 rs771075243 |
330 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192940760 rs1007731958 |
330 | G>S | No |
ClinGen TOPMed |
|
|
CA373458517 rs1243903481 |
331 | S>F | No |
ClinGen TOPMed |
|
|
CA5060763 rs202075653 |
332 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778122098 CA5060762 |
333 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778122098 CA373458509 |
333 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1164768769 CA373458507 |
333 | A>V | No |
ClinGen TOPMed |
|
|
rs1415191818 CA373458501 |
334 | G>D | No |
ClinGen gnomAD |
|
|
rs1588840104 CA373458493 |
335 | S>L | No |
ClinGen Ensembl |
|
|
rs1044261452 CA192940750 |
336 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs551433997 CA5060758 |
337 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5060759 rs571226705 |
337 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs946888353 CA192940744 |
338 | A>T | No |
ClinGen TOPMed |
|
|
CA5060757 rs751330046 |
339 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373458472 rs1490096940 |
339 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5060756 rs766293251 |
341 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762901703 CA373458449 |
342 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750043481 CA5060754 |
343 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs764985262 CA373458435 |
345 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764985262 CA5060753 |
345 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761208471 CA5060752 |
346 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA373458423 rs1404084458 |
346 | R>S | No |
ClinGen gnomAD |
|
|
CA373458417 rs1588840038 |
347 | V>G | No |
ClinGen Ensembl |
|
|
rs1365207778 CA373458413 |
348 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373458406 rs1327608899 |
349 | Q>R | No |
ClinGen TOPMed |
|
|
rs559113158 CA5060750 |
351 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373458392 rs559113158 |
351 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373458394 rs1459510029 |
351 | P>S | No |
ClinGen gnomAD |
|
|
CA373458382 rs1235099744 |
353 | S>G | No |
ClinGen TOPMed |
|
|
CA5060747 rs777317925 |
353 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370929362 CA5060745 |
353 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192502111 CA373458364 |
355 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1286631326 CA373458366 |
355 | D>G | No |
ClinGen TOPMed |
|
|
CA5060744 rs548913637 |
355 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5060743 rs748132341 |
356 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5060742 rs376483881 |
357 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319975555 CA373458344 |
359 | S>N | No |
ClinGen gnomAD |
|
|
rs1258574005 CA373458334 |
360 | P>L | No |
ClinGen gnomAD |
|
|
rs758100473 CA373458324 |
362 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758100473 CA5060738 |
362 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373458310 rs1299476927 |
364 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388805728 CA373458303 |
365 | E>Q | No |
ClinGen gnomAD |
|
|
CA5060737 rs750285377 |
366 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA192940711 rs1052401402 |
366 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373458276 rs1403114223 |
368 | D>E | No |
ClinGen gnomAD |
|
|
rs764749132 CA5060736 |
368 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5060734 rs753279634 |
371 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761557890 CA5060735 |
371 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1433451475 CA373458245 |
373 | R>K | No |
ClinGen gnomAD |
|
|
CA5060729 rs766920142 |
377 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5060727 rs758944618 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111810677 CA5060726 |
382 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5060725 rs748413228 |
383 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750945203 CA5060724 |
384 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747129265 CA5060722 |
386 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332646933 CA373458167 |
386 | G>R | No |
ClinGen gnomAD |
|
|
CA373458141 rs1400651593 |
390 | L>M | No |
ClinGen gnomAD |
|
|
CA373458133 rs1466827456 |
391 | G>D | No |
ClinGen gnomAD |
|
|
CA5060721 rs780121623 |
400 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5060719 rs745610368 |
402 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778776098 CA5060718 |
406 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281114368 CA373457966 |
407 | L>V | No |
ClinGen TOPMed |
|
|
CA5060717 rs756802936 |
409 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA373457900 rs1258157930 |
412 | Q>* | No |
ClinGen gnomAD |
|
|
CA373457886 rs1250450940 |
413 | E>* | No |
ClinGen TOPMed |
|
|
CA373457880 rs1419995693 |
413 | E>V | No |
ClinGen TOPMed |
|
|
CA373457815 rs1485399714 |
418 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1182558248 CA373457787 |
420 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5060714 rs755599192 |
421 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373457759 rs1375513274 |
422 | A>V | No |
ClinGen TOPMed |
|
|
CA5060713 rs752224883 |
423 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5060711 rs578067191 |
425 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1017867269 CA192940656 |
426 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5060709 rs765617758 |
427 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373457689 rs1384623613 |
429 | G>D | No |
ClinGen gnomAD |
|
|
rs776964849 CA5060707 |
430 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1471497775 CA373457644 |
433 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5060705 rs374744548 |
435 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374744548 CA192940644 |
435 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745833580 CA5060702 |
438 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771838111 CA5060703 |
438 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs200249505 CA373457603 |
439 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757044883 CA5060700 |
439 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373457601 rs1242900357 |
440 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373457592 rs1209350516 |
441 | K>R | No |
ClinGen gnomAD |
|
|
CA373457587 rs1354251183 |
442 | G>R | No |
ClinGen gnomAD |
|
|
CA373457572 rs1192541680 |
444 | V>A | No |
ClinGen TOPMed |
|
|
rs371389946 CA5060697 |
444 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060695 rs767064037 |
445 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192940623 rs1018337657 |
446 | V>A | No |
ClinGen Ensembl |
|
|
CA5060693 rs750934203 |
446 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167669823 CA373457555 |
447 | C>F | No |
ClinGen TOPMed |
|
|
CA5060691 rs762249741 |
447 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5060690 rs754281293 |
448 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs764372618 CA192940612 |
449 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1011610523 CA192940610 |
450 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1269180683 CA373457532 |
451 | R>K | No |
ClinGen gnomAD |
|
|
CA373457526 rs1233121951 |
452 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5060687 rs760982329 |
452 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA373457507 rs1198351388 |
454 | M>I | No |
ClinGen gnomAD |
|
|
CA5060684 rs773004531 |
455 | E>A* | No |
ClinGen ExAC gnomAD |
|
|
CA5060683 rs369577487 |
455 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5060685 rs775376512 |
455 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373457478 rs1220885412 |
459 | F>L | No |
ClinGen gnomAD |
|
|
CA5060680 rs555948867 |
460 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1433924134 CA373457438 |
465 | A>S | No |
ClinGen gnomAD |
|
|
rs1323692181 CA373457431 |
466 | V>A | No |
ClinGen gnomAD |
|
|
CA5060677 rs536164018 |
467 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA192940576 rs536164018 |
467 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765592304 CA5060678 |
467 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373457407 rs1172648290 |
470 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1361393667 CA373457394 |
472 | S>G | No |
ClinGen gnomAD |
|
|
rs747783408 CA5060676 |
473 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192939024 rs375497072 |
475 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA192939023 rs890790026 |
476 | M>V | No |
ClinGen Ensembl |
|
|
CA192939022 rs879092143 |
477 | L>I | No |
ClinGen Ensembl |
|
|
CA373457099 rs1287561437 |
478 | R>G | No |
ClinGen TOPMed |
|
|
CA5060659 rs773188372 |
480 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5060660 rs557560170 |
480 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747931656 CA5060658 |
482 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs747931656 CA5060657 |
482 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs768218161 CA5060655 |
483 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935068968 CA192939020 |
483 | R>H | No |
ClinGen gnomAD |
|
|
CA192939019 rs867210225 |
485 | R>* | No |
ClinGen gnomAD |
|
|
CA373457053 rs867210225 |
485 | R>G | No |
ClinGen gnomAD |
|
|
CA192939018 rs368527795 |
485 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5060654 rs578097840 |
486 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA192939017 rs578097840 |
486 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1588835061 CA373457042 |
487 | S>* | No |
ClinGen Ensembl |
|
|
CA192939016 rs780331357 |
488 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5060652 rs754385634 |
488 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060651 rs754385634 |
488 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060650 rs780331357 |
488 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1248332621 CA373457037 |
489 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753024882 CA5060648 |
492 | R>C | No |
ClinGen ExAC |
|
|
CA5060647 rs767738610 |
492 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373457014 rs767738610 |
492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373457012 rs1588834994 |
493 | L>* | No |
ClinGen Ensembl |
|
|
CA5060645 rs751595374 |
493 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750518067 CA192939015 |
493 | L>V | No |
ClinGen Ensembl |
|
|
rs766429246 CA5060644 |
495 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373456992 rs1238476683 |
496 | G>A | No |
ClinGen gnomAD |
|
|
CA5060642 rs773100572 |
496 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373456966 rs1193352162 |
500 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1360822584 CA373456962 |
501 | G>S | No |
ClinGen TOPMed |
|
|
CA192939013 rs916171964 |
506 | H>Y | No |
ClinGen Ensembl |
|
|
rs991752883 CA192939012 |
507 | N>S | No |
ClinGen Ensembl |
|
|
CA373456909 rs1287655145 |
508 | A>G | No |
ClinGen gnomAD |
|
|
CA5060640 rs761623187 |
509 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373456896 rs1287664051 |
510 | A>G | No |
ClinGen gnomAD |
|
|
CA373456900 rs1588834890 |
510 | A>T | No |
ClinGen Ensembl |
|
|
CA5060637 rs746654505 |
512 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs759819883 CA192939011 |
512 | V>L | No |
ClinGen Ensembl |
|
|
CA5060632 rs756609080 |
513 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs745413494 CA5060634 |
513 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs771705941 CA5060635 |
513 | D>Y | No |
ClinGen ExAC |
|
|
CA192939010 rs928643488 |
514 | I>V | No |
ClinGen Ensembl |
|
|
rs566517904 CA5060628 |
515 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5060630 rs755423837 |
515 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374054465 CA5060626 |
519 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374054465 CA5060625 |
519 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060623 rs761664404 |
521 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771644669 CA5060606 |
524 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA373456793 rs1459030371 |
525 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373456791 rs1414861687 |
526 | Q>* | No |
ClinGen TOPMed |
|
|
CA373456765 rs1258513068 |
529 | H>R | No |
ClinGen gnomAD |
|
|
rs778981739 CA5060605 |
532 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373456748 rs778981739 |
532 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764698049 CA5060604 |
532 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373456733 rs1371749627 |
535 | I>V | No |
ClinGen gnomAD |
|
|
rs1403045031 CA373456718 |
537 | V>A | No |
ClinGen gnomAD |
|
|
CA5060600 rs752568865 |
537 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060601 rs752568865 |
537 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553961005 CA5060599 |
540 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774204901 CA5060597 |
543 | G>V | No |
ClinGen ExAC |
|
|
CA5060596 rs770339528 |
544 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5060594 rs776978646 |
546 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060595 rs372987688 |
546 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373456632 rs1379224563 |
550 | I>M | No |
ClinGen gnomAD |
|
|
CA373456613 rs1178233254 |
553 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 555 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173477542 CA373456593 |
556 | A>T | No |
ClinGen TOPMed |
|
|
rs1251089784 CA373456582 |
557 | G>D | No |
ClinGen gnomAD |
|
|
rs1374461895 CA373456578 |
558 | I>T | No |
ClinGen TOPMed |
|
|
CA5060592 rs747336248 |
558 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373456567 rs1588832720 |
560 | I>L | No |
ClinGen Ensembl |
|
|
rs1335581574 CA373456544 |
562 | Y>C | No |
ClinGen TOPMed |
|
|
CA373456525 rs1348869819 |
564 | G>R | No |
ClinGen gnomAD |
|
|
rs772227906 CA5060590 |
565 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373456502 rs1390200700 |
566 | P>A | No |
ClinGen gnomAD |
|
|
rs34857698 CA5060588 |
567 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192937929 rs113063019 |
569 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5060579 rs765674651 |
570 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339192205 CA373456372 |
572 | H>Y | No |
ClinGen gnomAD |
|
|
CA373456358 rs1315328314 |
574 | F>L | No |
ClinGen gnomAD |
|
|
CA192937924 rs973870918 |
574 | F>Y | No |
ClinGen Ensembl |
|
|
rs759470791 CA5060578 |
577 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs368929348 CA5060577 |
577 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373456322 rs1427084992 |
580 | G>S | No |
ClinGen TOPMed |
|
|
CA373456315 rs1302715411 |
581 | I>V | No |
ClinGen gnomAD |
|
|
rs1162125119 CA373456301 |
583 | V>L | No |
ClinGen gnomAD |
|
|
rs1456368203 CA373456293 |
584 | N>S | No |
ClinGen gnomAD |
|
|
CA373456273 rs1462132253 |
587 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5060571 rs776035711 |
589 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776035711 CA373456256 |
589 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866322130 CA192937900 |
590 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs866322130 CA192937899 |
590 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1302235254 CA373456238 |
592 | T>R | No |
ClinGen gnomAD |
|
|
rs761379472 CA5060555 |
597 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192937234 rs867339197 |
598 | E>* | No |
ClinGen Ensembl |
|
|
CA373456161 rs1410279697 |
601 | W>* | No |
ClinGen gnomAD |
|
|
CA373456166 rs1333141870 |
601 | W>R | No |
ClinGen gnomAD |
|
|
CA192937231 rs372703709 |
602 | G>E | No |
ClinGen ESP gnomAD |
|
|
CA373456149 rs1172152625 |
603 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 603 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5060554 rs775949744 |
607 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768065121 CA5060553 |
607 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5060552 rs548906150 |
608 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5060551 rs185558370 |
608 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs548906150 CA192937219 |
608 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 609 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236833961 CA373456104 |
610 | G>A | No |
ClinGen gnomAD |
|
|
CA373456082 rs1207107550 |
612 | P>S | No |
ClinGen gnomAD |
|
|
CA5060549 rs374133948 |
613 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773369800 CA5060548 |
614 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs879330496 CA192937206 |
619 | I>T | No |
ClinGen Ensembl |
|
|
rs1281145665 CA373455929 |
625 | D>N | No |
ClinGen gnomAD |
|
|
rs1339713857 CA373455877 |
628 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373455875 rs1339713857 |
628 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5060544 rs781225957 |
631 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs980669285 CA192937197 |
632 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs980669285 CA373455836 |
632 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1419129157 CA373455813 |
633 | G>V | No |
ClinGen gnomAD |
|
|
rs1254557802 CA373455761 |
637 | I>M | No |
ClinGen Ensembl |
|
|
CA373455770 rs1379011256 |
637 | I>V | No |
ClinGen gnomAD |
|
|
rs779913467 CA5060541 |
640 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374397106 CA192937190 |
640 | N>T | No |
ClinGen ESP |
|
|
CA373455715 rs1485892058 |
641 | T>I | No |
ClinGen TOPMed |
|
| rs758186106 | 643 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373455690 rs1187726806 |
643 | Y>C | No |
ClinGen TOPMed |
|
|
rs1287594719 CA373455481 |
644 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1185836755 CA373455681 |
644 | A>P | No |
ClinGen gnomAD |
|
|
rs1185836755 CA373455683 |
644 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761943028 CA5060528 |
647 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776854198 CA5060527 |
648 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192936948 rs1004309449 |
649 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373455433 rs1004309449 |
649 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768658218 CA5060526 |
650 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1290731138 CA373455408 |
651 | W>* | No |
ClinGen gnomAD |
|
|
CA373455401 rs1431518610 |
651 | W>C | No |
ClinGen gnomAD |
|
|
CA373455395 rs1169370320 |
652 | M>V | No |
ClinGen TOPMed |
|
|
rs779923917 CA5060524 |
653 | M>T | No |
ClinGen ExAC |
|
|
CA373455379 rs1349810553 |
653 | M>V | No |
ClinGen gnomAD |
|
|
CA373455362 rs1324394574 |
654 | S>L | No |
ClinGen gnomAD |
|
|
CA373455364 rs1324394574 |
654 | S>W | No |
ClinGen gnomAD |
|
|
rs745704178 CA5060522 |
655 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1426417815 CA373455339 |
657 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1426417815 CA373455336 |
657 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5060520 rs376806190 |
657 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060519 rs200906830 |
659 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755643216 CA192936929 |
659 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373455314 rs1487835446 |
659 | H>R | No |
ClinGen gnomAD |
|
|
CA5060518 rs200906830 |
659 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1588826226 CA373455296 |
661 | T>P | No |
ClinGen Ensembl |
|
|
rs1308551223 CA373455285 |
662 | S>G | No |
ClinGen TOPMed |
|
|
CA373455266 rs1588826220 |
663 | N>T | No |
ClinGen Ensembl |
|
|
rs866944082 CA192936923 |
664 | H>Y | No |
ClinGen Ensembl |
|
|
rs200044588 CA5060513 |
665 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373455209 rs1212654177 |
668 | N>D | No |
ClinGen TOPMed |
|
|
rs765487086 CA5060512 |
668 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373455198 rs1297908051 |
669 | G>R | No |
ClinGen gnomAD |
|
|
rs777052720 CA192936898 |
674 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777052720 CA5060510 |
674 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373455076 rs1428979448 |
680 | D>G | No |
ClinGen TOPMed |
|
|
CA5060509 rs768777612 |
680 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA373455077 rs768777612 |
680 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201808923 CA5060507 |
681 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 681 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5060506 rs771929732 |
683 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5060505 rs745639302 |
683 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5060503 rs758388367 |
684 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060502 rs748932686 |
686 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748932686 CA373455036 |
686 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060501 rs777439446 |
687 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5060500 rs755624303 |
687 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5060499 rs752170659 |
688 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373455028 rs752170659 |
688 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060498 rs780570222 |
690 | R>T | No |
ClinGen ExAC TOPMed |
|
|
CA5060497 rs146876692 |
691 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1193859823 CA373454976 |
696 | S>G | No |
ClinGen gnomAD |
|
|
rs534332127 CA192936844 |
696 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251656148 CA373454969 |
697 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765686373 CA5060495 |
698 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373454943 rs1236521485 |
700 | D>A | No |
ClinGen gnomAD |
|
|
rs937038245 CA192936816 |
701 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373454934 rs1376061306 |
702 | I>V | No |
ClinGen gnomAD |
|
|
CA5060491 rs371285303 |
704 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA192936808 rs7028288 |
705 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 707 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373454886 rs1465272298 |
709 | E>K | No |
ClinGen gnomAD |
|
|
CA192936804 rs926893436 |
710 | K>E | No |
ClinGen TOPMed |
|
|
rs1336417067 CA373454877 |
710 | K>R | No |
ClinGen TOPMed |
|
|
rs1230074370 CA373454867 |
711 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373454858 rs377191726 |
712 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373454865 rs1175006115 |
712 | D>N | No |
ClinGen gnomAD |
|
|
rs767425878 CA5060489 |
713 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373454847 rs1188179440 |
714 | P>Q | No |
ClinGen TOPMed |
|
|
CA373454848 rs1179643167 |
714 | P>S | No |
ClinGen gnomAD |
|
|
CA5060487 rs373947307 |
715 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373454843 rs1181045750 |
715 | L>P | No |
ClinGen gnomAD |
|
|
CA373454841 rs1181045750 |
715 | L>R | No |
ClinGen gnomAD |
|
|
CA5060486 rs770678386 |
716 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060485 rs772801428 |
716 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs772801428 CA5060484 |
716 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5060482 rs368402191 |
717 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060483 rs371540716 |
717 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1285382823 CA373454832 |
718 | P>S | No |
ClinGen gnomAD |
|
|
CA5060481 rs780580078 |
719 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs568481742 CA192936764 |
720 | T>A | No |
ClinGen 1000Genomes |
|
|
CA5060480 rs754576307 |
721 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746374853 CA5060479 |
722 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5060478 rs375009439 |
728 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1353182728 CA373454770 |
728 | S>N | No |
ClinGen gnomAD |
|
|
rs1414999384 CA373454762 |
729 | I>T | No |
ClinGen gnomAD |
|
|
CA5060477 rs371237516 |
729 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060475 rs764340788 |
730 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060474 rs756298208 |
732 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5060473 rs752767863 |
733 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903001223 CA192936733 |
734 | A>P | No |
ClinGen TOPMed |
|
|
rs779513862 CA5060460 |
734 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 736 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5060459 rs757874663 |
737 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060458 rs749601452 |
740 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1195427814 CA373454681 |
740 | Q>R | No |
ClinGen TOPMed |
|
|
CA192935291 rs866735793 |
743 | E>K | No |
ClinGen Ensembl |
|
|
CA192935288 rs564742179 |
744 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA373454651 rs1438675915 |
744 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752828824 CA5060455 |
746 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373454636 rs1564332652 |
747 | V>F | No |
ClinGen Ensembl |
|
|
rs754998938 CA5060453 |
748 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA192935274 rs879128316 |
749 | T>S | No |
ClinGen Ensembl |
|
|
CA5060451 rs766237092 |
750 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060450 rs143437639 |
753 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5060448 rs761710834 |
754 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060447 rs761710834 |
754 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776126565 CA5060446 |
754 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760227299 CA5060444 |
758 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5060443 rs775149596 |
759 | G>D | No |
ClinGen ExAC gnomAD |
|
| VAR_070693 | 762 | V>C | requires 2 nucleotide substitutions; found in a patient with lymphoma; partial loss of function in controlling the stability of BCL2 [UniProt] | No | UniProt |
|
CA373454543 rs1197253486 |
762 | V>L | No |
ClinGen gnomAD |
|
|
CA5060442 rs376743442 |
768 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192935245 rs868441133 |
768 | P>T | No |
ClinGen Ensembl |
|
|
rs1279055384 CA373454492 |
769 | T>I | No |
ClinGen gnomAD |
|
|
rs749748138 CA5060441 |
770 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373454491 rs749748138 |
770 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778381633 CA5060440 |
770 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486325526 CA373454484 |
771 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 772 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303985621 CA373454470 |
773 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5060439 rs770030505 |
777 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1588821758 CA373454436 |
778 | C>S | No |
ClinGen Ensembl |
|
|
rs776057817 CA5060438 |
779 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755197163 CA373454424 |
780 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755197163 CA5060436 |
780 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060437 rs781228449 |
780 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564332550 CA373454402 |
783 | G>E | No |
ClinGen Ensembl |
|
|
CA5060435 rs751580511 |
785 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA373454372 rs1397443973 |
788 | A>T | No |
ClinGen gnomAD |
|
|
rs750298328 CA5060432 |
789 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060433 rs758539162 |
789 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA373454355 rs1284696280 |
790 | C>* | No |
ClinGen gnomAD |
|
|
CA192935200 rs906239656 |
791 | K>E | No |
ClinGen TOPMed |
|
|
rs1588821684 CA373454351 |
791 | K>T | No |
ClinGen Ensembl |
|
|
CA373454344 rs1231571110 |
792 | V>L | No |
ClinGen gnomAD |
|
|
rs574814970 CA373454326 |
795 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753699828 CA5060429 |
795 | R>Q | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5060430 rs574814970 |
795 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373454323 rs1208112233 |
796 | G>S | No |
ClinGen gnomAD |
|
|
CA373454292 rs1349489597 |
800 | Y>C | No |
ClinGen gnomAD |
|
|
rs61742584 CA192935191 |
802 | N>K | No |
ClinGen Ensembl |
|
|
rs1348422594 CA373454263 |
804 | G>D | No |
ClinGen gnomAD |
|
|
rs763777212 CA5060428 |
805 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192935189 rs1011915033 |
806 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5060426 rs775344192 |
808 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs771707966 CA5060425 |
810 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771707966 CA192935185 |
810 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060424 rs375374605 |
811 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5060422 rs201210928 |
812 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748393774 CA5060421 |
814 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1470681092 CA373454198 |
815 | I>V | No |
ClinGen gnomAD |
|
|
CA373454188 rs1241490923 |
816 | V>A | No |
ClinGen TOPMed |
|
|
CA5060419 rs769065168 |
816 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5060418 rs567358595 |
817 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060417 rs780296848 |
820 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 821 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192935162 rs941494624 |
822 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5060416 rs758387108 |
823 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778677445 CA373454130 |
825 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778677445 CA5060414 |
825 | R>Q | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5060415 rs573535073 VAR_070694 |
825 | R>W | found in a patient with lymphoma; partial loss of function in controlling the stability of BCL2 [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5060413 rs757227303 |
826 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA373454125 rs757227303 |
826 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1333967544 CA373454126 |
826 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 828 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373454092 rs1430059755 |
831 | L>R | No |
ClinGen gnomAD |
|
|
CA5060409 rs752372484 |
834 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588821452 CA373454072 |
835 | S>A | No |
ClinGen Ensembl |
|
|
rs767298585 CA5060408 |
835 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199866682 CA5060407 |
836 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372395195 CA5060390 |
841 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373454011 rs1588819168 |
842 | N>T | No |
ClinGen Ensembl |
|
|
rs182563461 CA5060388 |
843 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182563461 CA5060387 |
843 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs368769633 CA5060389 |
843 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765909589 CA5060386 |
844 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1305960172 CA373454004 |
844 | I>T | No |
ClinGen gnomAD |
|
|
rs1234420642 CA373453998 |
845 | H>Y | No |
ClinGen TOPMed |
|
|
CA192934098 rs1023725588 |
846 | S>L | No |
ClinGen TOPMed |
|
|
CA5060383 rs764607476 |
848 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5060384 rs777100958 |
848 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373453966 rs1301803194 |
850 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5060381 rs371163323 |
851 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376671407 CA5060379 |
853 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373453944 rs771016576 |
854 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771016576 CA5060377 |
854 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749398732 CA373453940 |
855 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373453939 rs569336061 |
855 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5060375 rs569336061 |
855 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5060376 rs749398732 |
855 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373453929 rs1175508406 |
857 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5060373 rs747890912 |
857 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747890912 CA5060374 |
857 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060372 rs781026269 |
858 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1175214962 CA373453923 |
858 | A>V | No |
ClinGen gnomAD |
|
|
CA192934051 rs887688036 |
859 | K>E | No |
ClinGen gnomAD |
|
|
rs751192176 CA5060370 |
863 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779620989 CA5060369 |
864 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764519599 CA5060366 |
867 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1588818954 CA373453857 |
868 | F>C | No |
ClinGen Ensembl |
|
|
rs753264893 CA5060363 |
873 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5060362 rs767922971 |
874 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1466505528 CA373453807 |
875 | T>I | No |
ClinGen gnomAD |
|
|
CA5060361 rs759862242 |
876 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015984437 CA192933990 |
876 | I>V | No |
ClinGen TOPMed |
|
|
rs1156670656 CA373453799 |
877 | F>V | No |
ClinGen gnomAD |
|
|
rs1420592165 CA373453783 |
879 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 880 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5060359 rs774613411 |
882 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1485449303 CA373453739 |
883 | N>T | No |
ClinGen gnomAD |
|
|
rs771085873 CA5060358 |
884 | R>* | No |
ClinGen ExAC TOPMed |
|
|
rs867197833 CA192933961 |
884 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs995807300 CA192933955 |
885 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370633059 CA5060356 |
888 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370633059 CA5060355 |
888 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770056362 CA5060354 |
891 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5060353 rs532904881 |
892 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1319168539 CA373453597 |
894 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5060350 rs768475047 |
895 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA5060351 rs768475047 |
895 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA373453400 rs1191092516 |
900 | S>C | No |
ClinGen gnomAD |
|
|
CA5060321 rs201715857 |
901 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756742066 CA5060322 |
901 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1467456446 CA373453387 |
902 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373453375 rs1210135984 |
904 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200694576 CA5060319 |
904 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200694576 CA192925925 |
904 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373453368 rs752164765 |
906 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060318 rs752164765 |
906 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401728118 CA373453357 |
907 | N>K | No |
ClinGen TOPMed |
|
|
CA373453360 rs1588815142 |
907 | N>T | No |
ClinGen Ensembl |
|
|
rs1229882764 CA373453355 |
908 | P>A | No |
ClinGen gnomAD |
|
|
CA5060317 rs766842946 |
910 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5060316 rs750650998 |
911 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192925908 rs1042008798 |
911 | R>Q | No |
ClinGen Ensembl |
|
|
CA5060315 rs750650998 |
911 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373453336 rs1228716617 |
912 | P>A | No |
ClinGen TOPMed |
|
|
CA373453334 rs1228716617 |
912 | P>T | No |
ClinGen TOPMed |
|
|
rs1387616791 CA373453316 |
915 | E>K | No |
ClinGen gnomAD |
|
|
CA373453297 rs1395963184 |
917 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs536866424 CA5060310 |
920 | R>C | No |
ClinGen Ensembl |
|
|
rs536866424 CA5060311 |
920 | R>G | No |
ClinGen Ensembl |
|
|
rs761913365 CA5060309 |
920 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761913365 CA192925872 |
920 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5060306 rs189963337 |
921 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs189963337 CA5060307 |
921 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5060304 rs369393172 |
922 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775475730 CA5060305 |
922 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773947400 CA5060302 |
923 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770572014 CA5060301 |
925 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs989728274 CA192925837 |
926 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748770719 CA5060300 |
926 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437365252 CA373453232 |
929 | K>E | No |
ClinGen TOPMed |
|
|
rs1373689970 CA373453229 |
929 | K>R | No |
ClinGen gnomAD |
|
|
CA373453221 rs1588814988 |
930 | V>G | No |
ClinGen Ensembl |
|
|
CA373453224 rs777131938 |
930 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5060299 rs777131938 |
930 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs138366871 CA192925821 CA373453202 |
933 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1275230627 CA373453205 |
933 | M>T | No |
ClinGen gnomAD |
|
|
CA5060298 rs755714175 |
933 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373453200 rs376056604 |
934 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA192925817 rs376056604 |
934 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs780753449 CA5060297 |
935 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780753449 CA5060296 |
935 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373453183 rs1411868552 |
937 | I>L | No |
ClinGen gnomAD |
|
|
rs758786183 CA5060295 |
938 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 939 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5060293 rs202085012 |
940 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 941 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173561396 CA373453163 |
941 | V>M | No |
ClinGen gnomAD |
|
|
CA373453149 rs1469902735 |
943 | G>S | No |
ClinGen gnomAD |
|
|
CA5060290 rs764078758 |
946 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373453110 rs1183948437 |
948 | N>S | No |
ClinGen gnomAD |
|
|
CA373453111 rs1183948437 |
948 | N>T | No |
ClinGen gnomAD |
|
|
rs760851688 CA5060289 |
949 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA192925700 rs1025458683 |
949 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA373453103 rs1025458683 |
949 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1446272810 CA373453090 |
951 | V>A | No |
ClinGen TOPMed |
|
|
CA5060286 rs767467999 |
952 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5060287 rs775387712 |
952 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373453080 rs1279187451 |
953 | C>G | No |
ClinGen gnomAD |
|
|
CA5060285 rs778066854 |
954 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1204462387 CA373453073 |
954 | T>P | No |
ClinGen gnomAD |
|
|
CA373453070 rs778066854 |
954 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5060284 rs200648555 |
955 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 956 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q9UK96
Without disease ID
25 regional properties for Q9UK96
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | F-box domain | 1 - 50 | IPR001810 |
| repeat | Parallel beta-helix repeat | 198 - 217 | IPR006626-1 |
| repeat | Parallel beta-helix repeat | 238 - 260 | IPR006626-2 |
| repeat | Parallel beta-helix repeat | 427 - 448 | IPR006626-3 |
| repeat | Parallel beta-helix repeat | 449 - 470 | IPR006626-4 |
| repeat | Parallel beta-helix repeat | 471 - 493 | IPR006626-5 |
| repeat | Parallel beta-helix repeat | 494 - 516 | IPR006626-6 |
| repeat | Parallel beta-helix repeat | 517 - 539 | IPR006626-7 |
| repeat | Parallel beta-helix repeat | 540 - 562 | IPR006626-8 |
| repeat | Parallel beta-helix repeat | 563 - 585 | IPR006626-9 |
| repeat | Parallel beta-helix repeat | 586 - 608 | IPR006626-10 |
| repeat | Parallel beta-helix repeat | 609 - 631 | IPR006626-11 |
| repeat | Parallel beta-helix repeat | 632 - 654 | IPR006626-12 |
| repeat | Parallel beta-helix repeat | 655 - 677 | IPR006626-13 |
| repeat | Parallel beta-helix repeat | 719 - 741 | IPR006626-14 |
| repeat | Parallel beta-helix repeat | 742 - 764 | IPR006626-15 |
| repeat | Parallel beta-helix repeat | 766 - 788 | IPR006626-16 |
| repeat | Parallel beta-helix repeat | 789 - 811 | IPR006626-17 |
| repeat | Parallel beta-helix repeat | 834 - 856 | IPR006626-18 |
| domain | Carbohydrate-binding/sugar hydrolysis domain | 341 - 515 | IPR006633-1 |
| domain | Carbohydrate-binding/sugar hydrolysis domain | 540 - 676 | IPR006633-2 |
| domain | Carbohydrate-binding/sugar hydrolysis domain | 685 - 810 | IPR006633-3 |
| domain | Periplasmic copper-binding protein NosD, beta helix domain | 724 - 870 | IPR007742 |
| repeat | Parallel beta-helix repeat-2 | 534 - 573 | IPR022441 |
| domain | Right handed beta helix domain | 425 - 572 | IPR039448 |
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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAGGLPLEL | WRMILAYLHL | PDLGRCSLVC | RAWYELILSL | DSTRWRQLCL | GCTECRHPNW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PNQPDVEPES | WREAFKQHYL | ASKTWTKNAL | DLESSICFSL | FRRRRERRTL | SVGPGREFDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGSALAMASL | YDRIVLFPGV | YEEQGEIILK | VPVEIVGQGK | LGEVALLASI | DQHCSTTRLC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLVFTPAWFS | PIMYKTTSGH | VQFDNCNFEN | GHIQVHGPGT | CQVKFCTFKN | THIFLHNVPL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CVLENCEFVG | SENNSVTVEG | HPSADKNWAY | KYLLGLIKSS | PTFLPTEDSD | FLMSLDLESR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DQAWSPKTCD | IVIEGSQSPT | SPASSSPKPG | SKAGSQEAEV | GSDGERVAQT | PDSSDGGLSP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SGEDEDEDQL | MYRLSYQVQG | PRPVLGGSFL | GPPLPGASIQ | LPSCLVLNSL | QQELQKDKEA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MALANSVQGC | LIRKCLFRDG | KGGVFVCSHG | RAKMEGNIFR | NLTYAVRCIH | NSKIIMLRND |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IYRCRASGIF | LRLEGGGLIA | GNNIYHNAEA | GVDIRKKSNP | LILCNQIHHG | LRSGIVVLGN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GKGIIRNNQI | FSNKEAGIYI | LYHGNPVVSG | NHIFKGRAAG | IAVNENGKGL | ITENVIRENQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WGGVDIRRGG | IPVLRSNLIC | FGYSDGVVVG | DEGKGLIEGN | TIYANKGCGV | WMMSSSLPHV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TSNHVSYNGL | YGVAVFSQKD | GSSELPRGHR | AQENFSEDGD | AILWETELEK | EDDPLRRPIT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IALVESNSIN | HNGASGLYVQ | SSEALHVITN | VIHANGDRGI | TVAQSSQPTR | VANNSISCNR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QSGVKVEAQC | KVELRGNGIY | DNRGHGIITK | GDSTIVIEND | IIGNRGSGLQ | LLPRSDTKVI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KNRIHSFRAY | GIAVRGRAKA | LVQENIIFQG | KTSKTIFQQI | SNNRECIMQN | NKFLVFKKKS |
| 910 | 920 | 930 | 940 | 950 | |
| DTWRLVNPPA | RPHLENSLRR | PSAAHNGQKV | TAMATRITAR | VEGGYHSNRS | VFCTIL |