Q9UI26
PR
Gene name |
IPO11 (RANBP11) |
Protein name |
Importin-11 |
Names |
Imp11, Ran-binding protein 11, RanBP11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51194 |
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 Q9UI26
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UI26-F1 | Predicted | AlphaFoldDB |
671 variants for Q9UI26
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3279544 rs368708426 |
4 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347177863 CA359828392 |
7 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359828405 rs1212918759 |
9 | V>I | No |
ClinGen gnomAD |
|
|
rs770191678 CA3279546 |
12 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs763159392 CA3279547 |
13 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359828464 rs1251504517 |
18 | T>A | No |
ClinGen gnomAD |
|
|
rs774431661 CA3279549 |
19 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359828483 rs1255472573 |
21 | D>N | No |
ClinGen gnomAD |
|
|
rs762230614 CA3279550 |
24 | V>G | No |
ClinGen ExAC |
|
| TCGA novel | 27 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166821028 CA359828571 |
33 | K>R | No |
ClinGen gnomAD |
|
|
rs1561310172 CA359828575 |
34 | Q>* | No |
ClinGen Ensembl |
|
|
rs1370914906 CA359828579 |
34 | Q>H | No |
ClinGen TOPMed |
|
|
rs536808087 CA3279551 |
34 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 37 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA119810276 rs1038049771 |
38 | Q>E | No |
ClinGen Ensembl |
|
|
CA3279552 rs750804778 |
39 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA359828631 rs1393430680 |
42 | Y>H | No |
ClinGen gnomAD |
|
|
CA359828643 rs1327793610 COSM3776773 COSM3776774 |
43 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA119810316 rs937821217 |
44 | V>A | No |
ClinGen Ensembl |
|
|
CA359828644 rs1324645274 |
44 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA359829385 rs1488962609 |
50 | T>S | No |
ClinGen gnomAD |
|
|
rs751080040 CA3279580 |
51 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA119789104 rs369313132 |
53 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA359829413 rs1361841661 |
55 | D>N | No |
ClinGen gnomAD |
|
|
rs1469470904 CA359829422 |
56 | I>V | No |
ClinGen gnomAD |
|
|
CA119789105 rs555210223 |
58 | V>A | No |
ClinGen Ensembl |
|
|
rs767630118 CA3279582 |
63 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750371002 CA3279583 |
69 | G>R | No |
ClinGen ExAC |
|
|
CA359829516 rs1180675586 |
70 | I>L | No |
ClinGen Ensembl |
|
|
rs1464746063 CA359829534 |
72 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3279584 rs756055384 |
73 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359829562 rs1415612856 |
76 | R>C | No |
ClinGen gnomAD |
|
|
rs779998835 CA3279585 COSM1069256 |
76 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs974020852 CA119789132 |
77 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369613247 CA359829574 |
78 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369613247 CA3279586 |
78 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396777299 CA359829576 |
79 | P>A | No |
ClinGen TOPMed |
|
|
rs1190971041 CA359829584 |
80 | H>P | No |
ClinGen TOPMed |
|
|
CA359829605 rs371179319 |
81 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371179319 CA3279606 |
81 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454684765 CA359829606 |
82 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1433796982 CA359829631 |
85 | E>D | No |
ClinGen gnomAD |
|
|
CA3279608 rs754768302 |
85 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1196497 CA3279610 rs748386517 |
89 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs568427976 CA3279612 |
90 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1438097 CA359829665 rs1171733432 |
91 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3279613 rs747047580 |
92 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771479976 CA3279614 |
93 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA119797368 rs4700010 |
94 | L>F | No |
ClinGen Ensembl |
|
|
CA359829688 rs1387933647 |
95 | I>F | No |
ClinGen gnomAD |
|
|
CA359829693 rs1370500253 |
96 | T>A | No |
ClinGen TOPMed |
|
|
CA359829699 rs1580192682 |
97 | N>H | No |
ClinGen Ensembl |
|
|
rs965577059 CA359829704 |
97 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 97 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA119797385 rs373169352 |
97 | N>T | No |
ClinGen ESP TOPMed |
|
|
CA359829758 rs1461236313 |
104 | Q>H | No |
ClinGen TOPMed |
|
|
rs199856701 CA3279632 |
105 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359829784 rs1279653740 |
107 | T>A | No |
ClinGen gnomAD |
|
|
CA3279633 rs370788901 |
109 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359829808 rs1232389406 |
110 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1293663929 CA359829814 |
111 | V>G | No |
ClinGen gnomAD |
|
|
rs1260119924 CA359829826 |
113 | I>S | No |
ClinGen gnomAD |
|
|
CA3279635 rs746401917 |
117 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359829848 rs746401917 |
117 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187588384 CA359829890 |
122 | P>L | No |
ClinGen gnomAD |
|
|
CA359829891 rs919639391 |
123 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs919639391 CA119798745 |
123 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3279640 rs772964199 |
123 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279639 rs771900102 |
123 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3279643 rs775942999 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195430963 CA359829969 |
132 | L>I | No |
ClinGen gnomAD |
|
|
CA359829993 rs1303103865 |
133 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359830018 rs1317932058 |
135 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359830036 rs1279574977 |
137 | K>E | No |
ClinGen TOPMed |
|
|
rs1445270778 CA359830048 |
137 | K>N | No |
ClinGen TOPMed |
|
|
rs1279574977 CA359830034 |
137 | K>Q | No |
ClinGen TOPMed |
|
|
rs982794044 CA359830068 |
139 | Q>P | No |
ClinGen gnomAD |
|
|
rs982794044 CA119798809 |
139 | Q>R | No |
ClinGen gnomAD |
|
|
CA3279646 rs752541455 |
141 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3279647 rs762709467 |
142 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3279648 rs138490998 |
143 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751768550 CA3279649 |
143 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs751768550 CA3279650 |
143 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781334511 CA3279651 |
144 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1210415002 CA359830129 |
144 | Q>H | No |
ClinGen gnomAD |
|
|
rs750428984 CA3279652 |
144 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756666284 CA3279653 |
152 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359830244 rs1339518806 |
153 | H>R | No |
ClinGen TOPMed |
|
|
CA359830271 rs1398152593 |
155 | T>I | No |
ClinGen TOPMed |
|
|
rs780684037 CA3279654 |
155 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949662616 CA119798869 |
156 | K>R | No |
ClinGen TOPMed |
|
|
CA119798878 rs756420006 |
162 | R>* | No |
ClinGen gnomAD |
|
|
rs749706442 CA3279655 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749706442 CA119798891 |
162 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119798916 rs902768738 |
169 | L>P | No |
ClinGen TOPMed |
|
|
CA119798923 rs1045358612 |
171 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3279684 rs768538125 |
176 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279685 rs146192922 |
178 | Y>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3279686 rs761490559 |
179 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3429544 COSM3429545 rs764247262 CA119813429 |
181 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3279688 rs539851667 |
182 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359830816 rs1271762915 |
182 | C>R | No |
ClinGen gnomAD |
|
|
rs539851667 CA3279687 |
182 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760863501 CA3279689 |
183 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA359830825 rs760863501 |
183 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA359830847 rs1185524825 |
186 | N>K | No |
ClinGen gnomAD |
|
|
rs1580212480 CA359830852 |
187 | H>R | No |
ClinGen Ensembl |
|
|
CA3279690 rs766576355 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1471029992 CA359830872 |
190 | D>A | No |
ClinGen TOPMed |
|
|
rs760145602 CA3279692 |
191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758689101 CA3279695 |
194 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1561322748 CA359830910 |
196 | V>I | No |
ClinGen Ensembl |
|
|
CA3279697 rs376400435 |
199 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3279698 rs370052124 |
200 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779572606 CA3279699 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA359830952 rs1471455669 |
202 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1373457184 CA359830953 |
203 | A>T | No |
ClinGen TOPMed |
|
|
rs1291823062 CA359830960 |
204 | I>V | No |
ClinGen gnomAD |
|
|
CA3279700 rs748745011 |
206 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3279703 rs778683858 |
210 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3279702 rs778683858 |
210 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3279704 rs771746187 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3279705 rs772998136 |
211 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359831034 rs1473031410 |
215 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA119815801 rs868705380 |
219 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs769780919 CA3279730 |
219 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359831639 rs1482508123 |
227 | V>A | No |
ClinGen TOPMed |
|
|
rs1336545451 CA359831649 |
229 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359831659 rs1334425083 COSM1567632 |
230 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 232 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359832062 rs1386860605 |
237 | G>D | No |
ClinGen TOPMed |
|
|
CA359832081 rs1299968898 |
238 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563098431 CA3279749 |
240 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs897460349 CA119818886 |
240 | H>R | No |
ClinGen gnomAD |
|
|
rs563098431 CA3279750 |
240 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM110068 CA119818893 rs140147182 |
241 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3279752 rs532857463 |
242 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359832145 rs1199044459 |
243 | F>S | No |
ClinGen gnomAD |
|
|
CA3279753 rs762219763 |
245 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA359832159 rs1467074614 |
245 | R>H | No |
ClinGen gnomAD |
|
|
CA3279756 rs759141926 |
247 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3279757 rs764892995 |
247 | K>R | No |
ClinGen ExAC |
|
|
CA359832180 rs1201212243 |
248 | Q>R | No |
ClinGen gnomAD |
|
|
CA359832638 rs1369556785 |
253 | S>N | No |
ClinGen gnomAD |
|
|
CA359832643 rs1458943031 |
254 | R>G | No |
ClinGen gnomAD |
|
|
rs775195938 CA3279776 |
254 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763701912 CA3279779 |
256 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA3279778 rs763701912 |
256 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762455674 CA3279777 |
256 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3279781 rs767543822 |
257 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279780 rs771587001 |
257 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119821627 rs771587001 |
257 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750228579 CA3279782 |
258 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359832693 rs1322954142 |
258 | T>I | No |
ClinGen TOPMed |
|
|
CA3279783 rs755931332 |
259 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000963322 CA3279784 rs35107530 VAR_050004 |
260 | N>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359832719 rs1283964422 |
260 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754100434 CA3279785 |
261 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359832743 rs1265661007 |
262 | C>G | No |
ClinGen gnomAD |
|
|
rs1482445191 CA359832744 |
262 | C>Y | No |
ClinGen gnomAD |
|
|
CA3279787 rs778994155 |
264 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3279788 rs748174781 |
265 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs371460728 CA119821706 |
266 | L>V | No |
ClinGen ESP |
|
|
rs61748227 CA3279789 |
269 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778250035 CA3279790 |
270 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs747392179 CA3279791 |
271 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359832881 rs771341599 |
272 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771341599 CA3279792 |
272 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113619611 CA3279793 |
273 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139799766 CA3279794 |
274 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768378368 CA359832952 |
276 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768378368 CA3279796 |
276 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1197149039 CA359835853 |
277 | L>F | No |
ClinGen gnomAD |
|
|
CA119827644 rs969813971 CA119827641 COSM3941352 COSM3941351 |
279 | D>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA359836059 rs1458593335 |
282 | D>E | No |
ClinGen gnomAD |
|
|
rs766178169 CA3279821 |
283 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279822 rs776537031 |
284 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA359836154 rs1477435611 |
285 | P>R | No |
ClinGen gnomAD |
|
|
CA359836235 rs1191376385 |
287 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3279823 rs759294534 |
288 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1169943707 CA359836267 |
289 | T>I | No |
ClinGen TOPMed |
|
|
CA3279825 rs752931991 |
290 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs998069939 CA359836419 |
295 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs998069939 CA119827687 |
295 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 297 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757835275 CA3279829 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA359836547 rs1413061303 |
299 | S>A | No |
ClinGen gnomAD |
|
|
rs746305183 CA3279831 |
301 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs954847590 CA119827696 |
302 | Y>C | No |
ClinGen gnomAD |
|
|
rs954847590 CA359836625 |
302 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756530541 CA3279832 |
304 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1277954429 CA359836731 |
306 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA119827698 rs983388401 |
307 | V>D | No |
ClinGen Ensembl |
|
|
CA359836801 rs1319078985 |
308 | G>D | No |
ClinGen gnomAD |
|
|
rs1014899560 CA359836913 |
310 | G>A | No |
ClinGen gnomAD |
|
|
rs1014899560 CA119827699 |
310 | G>D | No |
ClinGen gnomAD |
|
|
CA3279834 rs369569349 |
311 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3279835 rs771806371 |
312 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318662350 CA359837010 |
313 | F>L | No |
ClinGen gnomAD |
|
|
CA3279836 rs145346745 |
313 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746478571 CA3279837 |
313 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746478571 CA359837008 |
313 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372233722 CA3279838 |
315 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372233722 CA3279839 |
315 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3279840 rs759412843 |
316 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1246411033 CA359837143 |
317 | I>T | No |
ClinGen TOPMed |
|
|
rs377252535 CA119827746 |
319 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359837419 rs1161349348 |
322 | N>K | No |
ClinGen gnomAD |
|
|
rs372665845 CA3279843 |
324 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359837457 rs1404780672 |
324 | I>T | No |
ClinGen gnomAD |
|
|
CA3279842 rs147680491 |
324 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1580231708 CA359837484 |
325 | K>Q | No |
ClinGen Ensembl |
|
|
CA359837532 rs1398346270 |
326 | M>T | No |
ClinGen gnomAD |
|
|
CA359837524 rs1367596427 |
326 | M>V | No |
ClinGen gnomAD |
|
|
CA359837579 rs1346863807 |
328 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 329 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs993038219 CA119827756 |
330 | N>H | No |
ClinGen Ensembl |
|
|
rs764204086 CA3279844 |
331 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764204086 CA359837627 |
331 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359837657 rs1433333895 |
332 | A>T | No |
ClinGen gnomAD |
|
|
rs1282885015 CA359837665 |
332 | A>V | No |
ClinGen gnomAD |
|
|
CA3279846 rs757282953 |
334 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA119827761 rs944126101 |
335 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3279847 rs768131470 |
335 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA359837735 rs1163887734 |
336 | S>C | No |
ClinGen TOPMed |
|
|
CA3279848 rs775215733 |
337 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756620354 CA3279849 |
337 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780592119 CA3279850 |
339 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1448446310 CA359837829 |
341 | D>N | No |
ClinGen gnomAD |
|
|
CA359838680 rs1236315744 |
342 | S>N | No |
ClinGen gnomAD |
|
|
rs1477319742 CA359838705 |
344 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359838713 rs1437847004 |
344 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1178088509 CA359838729 |
345 | E>D | No |
ClinGen gnomAD |
|
|
CA119828420 rs200142550 |
347 | L>P | No |
ClinGen Ensembl |
|
|
rs1298029129 CA359838783 |
349 | A>V | No |
ClinGen TOPMed |
|
|
CA359838798 rs1415435772 |
350 | H>R | No |
ClinGen gnomAD |
|
|
rs957123722 CA119828442 |
350 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA359838825 rs1561329734 |
352 | I>F | No |
ClinGen Ensembl |
|
|
CA359838855 rs1172406937 |
354 | M>L | No |
ClinGen gnomAD |
|
|
rs142345152 CA359838883 |
355 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3279868 rs142345152 |
355 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142345152 CA359838881 |
355 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3279869 rs535480661 |
356 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3279871 rs751178114 |
360 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs756895879 CA3279872 |
361 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230580124 CA359838990 |
361 | T>I | No |
ClinGen gnomAD |
|
|
rs780703659 CA3279873 |
362 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279874 rs745361088 |
363 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769766867 CA3279875 |
365 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA359839127 rs1457261767 |
366 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359839126 rs1457261767 |
366 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs779967275 CA3279877 |
367 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1196976189 CA359839203 |
370 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3279881 rs761970864 |
372 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1179013175 CA359839273 |
372 | H>Y | No |
ClinGen gnomAD |
|
|
CA359839490 rs1299288843 |
378 | E>K | No |
ClinGen gnomAD |
|
| rs1277112118 | 380 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359839638 rs1397944830 |
383 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773471582 CA3279883 |
383 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397944830 CA359839640 |
383 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3279884 rs760805988 |
384 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA359839700 rs1388015061 |
385 | E>Q | No |
ClinGen gnomAD |
|
|
rs767057673 CA3279885 |
387 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279887 rs760022683 |
388 | P>T | No |
ClinGen ExAC |
|
|
CA3279890 rs753056337 |
391 | F>L | No |
ClinGen ExAC |
|
|
rs1208044824 CA359840205 |
392 | T>I | No |
ClinGen TOPMed |
|
|
rs756909236 CA3279891 |
392 | T>S | No |
ClinGen ExAC |
|
|
rs1360316652 CA359840219 |
393 | V>M | No |
ClinGen gnomAD |
|
|
CA3279909 rs374963004 |
396 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 399 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA119829576 rs995104825 |
405 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 406 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3279930 rs201263413 |
409 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3279931 rs774655416 |
411 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 411 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 415 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359841633 rs1372760104 |
416 | I>V | No |
ClinGen gnomAD |
|
|
CA359841702 rs1224495931 |
417 | F>C | No |
ClinGen gnomAD |
|
|
CA359841724 rs1309464882 |
418 | H>R | No |
ClinGen gnomAD |
|
|
CA3279936 rs765144223 |
422 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1580237417 CA359841885 |
422 | Q>L | No |
ClinGen Ensembl |
|
|
rs1463046770 CA359841911 |
423 | T>S | No |
ClinGen gnomAD |
|
|
rs1197345106 CA359842005 |
425 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1197345106 CA359842000 |
425 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752692502 CA3279937 |
426 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3279939 rs538461647 |
427 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751377231 CA3279940 |
429 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359842226 rs1379097465 |
433 | Q>E | No |
ClinGen TOPMed |
|
|
CA359842248 rs781473404 |
433 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359842319 rs1463982356 |
437 | G>R | No |
ClinGen gnomAD |
|
|
CA119832207 rs771115119 |
439 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764094563 CA3279961 |
441 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1010046960 CA119832222 |
444 | M>T | No |
ClinGen Ensembl |
|
|
rs751468799 CA3279962 |
444 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3279963 rs376979926 |
446 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780794796 CA3279964 |
446 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359843322 rs1192189488 |
450 | K>I | No |
ClinGen gnomAD |
|
|
CA359843316 rs1192189488 |
450 | K>R | No |
ClinGen gnomAD |
|
|
CA119832239 rs779725616 |
452 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 452 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359844255 rs1279800184 |
453 | V>A | No |
ClinGen gnomAD |
|
|
rs1275974118 CA359844329 |
456 | A>S | No |
ClinGen TOPMed |
|
|
CA3279990 rs753983142 |
456 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778905938 CA3279992 |
461 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778250791 CA3279995 |
462 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs545780507 CA3279994 |
462 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA3279997 rs573453530 |
467 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs968712393 CA119832559 |
468 | V>I | No |
ClinGen TOPMed |
|
|
CA359844910 rs1471314019 |
471 | D>E | No |
ClinGen gnomAD |
|
|
rs775269043 CA3279998 |
471 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359844923 rs1174728957 |
472 | Q>E | No |
ClinGen gnomAD |
|
|
rs768288530 CA3280000 |
472 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3279999 rs200121488 |
472 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1007387393 CA119832577 |
473 | W>C | No |
ClinGen TOPMed |
|
|
rs932080443 CA119832581 |
477 | Q>H | No |
ClinGen TOPMed |
|
|
CA359845213 rs1179239887 |
479 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs773962368 CA3280001 |
480 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA359845253 rs1390315493 |
480 | P>Q | No |
ClinGen gnomAD |
|
|
rs1018401005 COSM3429547 CA119832586 COSM3429546 |
481 | E>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA359845274 rs1329041773 |
481 | E>G | No |
ClinGen gnomAD |
|
|
rs1470353796 CA359845354 |
485 | I>F | No |
ClinGen TOPMed |
|
|
rs965839412 CA119832590 |
485 | I>N | No |
ClinGen TOPMed |
|
|
rs115700040 CA3280004 |
486 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA119832591 rs890436677 |
486 | H>Y | No |
ClinGen Ensembl |
|
|
CA3280005 rs760381119 |
487 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119834455 rs2081152 |
489 | Y>F | No |
ClinGen Ensembl |
|
|
COSM1210810 CA359846852 COSM3697272 rs1297677377 |
493 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1251947599 CA359846874 |
494 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359847046 rs1490598361 |
502 | Q>R | No |
ClinGen gnomAD |
|
|
rs1202018561 CA359847084 |
504 | I>V | No |
ClinGen gnomAD |
|
|
rs759774961 CA3280029 |
509 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1017511966 CA119834482 |
514 | P>T | No |
ClinGen Ensembl |
|
|
rs1274400541 CA359847287 |
515 | M>V | No |
ClinGen gnomAD |
|
|
CA359847366 rs1162472084 |
517 | Y>C | No |
ClinGen gnomAD |
|
|
CA119834484 rs989655830 |
517 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365799089 CA359847421 |
519 | A>V | No |
ClinGen gnomAD |
|
|
rs1328093319 CA359847454 |
520 | I>M | No |
ClinGen TOPMed |
|
|
rs370564134 CA3280031 |
524 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762929862 CA3280032 |
525 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764179037 CA359847645 |
527 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119834497 rs975947320 |
527 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3280034 rs752015174 |
530 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747672076 CA3280055 |
532 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1580257547 CA359828906 |
534 | E>Q | No |
ClinGen Ensembl |
|
|
CA359828919 rs1240194186 |
536 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1262936171 CA359828924 |
536 | A>V | No |
ClinGen gnomAD |
|
|
CA3280056 rs750879958 |
539 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA3280057 rs756530383 |
540 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575268715 CA119789231 |
544 | D>E | No |
ClinGen 1000Genomes |
|
|
rs1424111530 CA359828980 |
544 | D>N | No |
ClinGen TOPMed |
|
|
CA359829033 rs1201805285 |
551 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359829032 rs1201805285 |
551 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 551 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280072 rs768904370 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 555 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280073 rs774338799 |
555 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359829079 rs1223512838 |
556 | Y>H | No |
ClinGen TOPMed |
|
|
CA359829094 rs1276734759 |
558 | E>A | No |
ClinGen TOPMed |
|
|
rs749082510 CA3280091 |
558 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359829100 rs1225291404 |
559 | T>A | No |
ClinGen TOPMed |
|
|
rs867443720 CA119790771 |
559 | T>N | No |
ClinGen Ensembl |
|
|
rs768831363 CA3280092 |
560 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs748318905 CA3280094 |
566 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280096 rs773383736 |
569 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs200424592 CA3280097 |
576 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA359829221 rs1580259073 |
577 | K>E | No |
ClinGen Ensembl |
|
|
rs1055297464 CA119790870 |
579 | H>P | No |
ClinGen Ensembl |
|
|
CA359829259 rs1247414036 |
582 | H>Y | No |
ClinGen gnomAD |
|
|
rs766886338 CA3280098 |
584 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs201339228 CA359829280 |
585 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201339228 CA3280099 |
585 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1214905982 CA359829286 |
586 | C>Y | No |
ClinGen gnomAD |
|
|
rs765462427 CA3280101 |
589 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765462427 CA359829302 |
589 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359829314 rs1334444277 |
590 | R>S | No |
ClinGen TOPMed |
|
|
rs751218243 CA3280102 |
590 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA359829315 rs1433688104 |
591 | V>I | No |
ClinGen gnomAD |
|
|
CA359829322 rs1178023537 |
592 | N>D | No |
ClinGen gnomAD |
|
|
CA359829333 rs1383507653 |
593 | M>T | No |
ClinGen gnomAD |
|
|
CA3280103 rs143108486 |
594 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA119790940 rs866210544 |
594 | Q>R | No |
ClinGen Ensembl |
|
|
rs751288598 CA3280170 |
596 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs145164064 CA359829958 |
596 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3280171 rs145164064 |
596 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767626634 CA3280172 |
597 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119799627 rs778406842 |
597 | P>T | No |
ClinGen gnomAD |
|
|
rs750570635 CA3280173 |
599 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3280175 rs780046915 |
600 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA359830004 rs1467730618 |
600 | G>V | No |
ClinGen gnomAD |
|
|
CA359830061 rs1296699958 CA359830063 |
604 | Q>H | No |
ClinGen gnomAD |
|
|
CA3280177 rs755432283 |
607 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA359830161 rs560998393 |
611 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359830176 rs1472958830 |
612 | Q>H | No |
ClinGen TOPMed |
|
|
rs1313467118 CA359830174 |
612 | Q>L | No |
ClinGen gnomAD |
|
|
CA119799711 rs950704064 |
613 | S>N | No |
ClinGen TOPMed |
|
|
rs369338875 CA359830225 |
615 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3280183 rs769459344 |
616 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1273488053 CA359830233 |
616 | H>Y | No |
ClinGen gnomAD |
|
|
rs372820120 CA3280184 |
617 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1580272216 CA359830279 |
619 | L>V | No |
ClinGen Ensembl |
|
|
CA359830335 rs1266561441 |
623 | I>V | No |
ClinGen gnomAD |
|
|
rs1191724575 CA359830361 |
625 | T>S | No |
ClinGen gnomAD |
|
|
rs763905125 CA359830373 |
626 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3280187 rs774266339 |
626 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763905125 CA3280186 |
626 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA119799799 rs761496909 |
627 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761496909 CA3280188 |
627 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767281030 CA359830392 |
628 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767281030 CA3280189 |
628 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310214443 CA359830436 |
631 | V>F | No |
ClinGen gnomAD |
|
|
CA119799834 rs149461491 CA3280190 |
632 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359830509 rs1172126761 |
636 | A>T | No |
ClinGen TOPMed |
|
|
CA359830514 rs1466554925 |
636 | A>V | No |
ClinGen TOPMed |
|
|
CA359830519 rs1291809767 |
637 | D>G | No |
ClinGen gnomAD |
|
|
CA3280213 rs373372383 |
643 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753987147 CA3280212 |
643 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753149812 CA359830580 |
646 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753149812 CA3280215 |
646 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280216 rs758889666 |
649 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751939257 CA3280219 |
650 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778331137 CA3280217 |
650 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779837016 CA3280220 |
651 | L>R | No |
ClinGen ExAC |
|
|
rs748889077 CA3280221 |
653 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3280223 rs778443100 |
661 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1188941162 CA359830731 |
669 | E>D | No |
ClinGen TOPMed |
|
|
rs1466244368 CA359830742 |
671 | W>* | No |
ClinGen TOPMed |
|
|
rs375253979 CA3280238 |
673 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199525156 CA3280239 |
677 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280241 rs754613412 |
680 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA119816055 rs905767623 |
680 | C>Y | No |
ClinGen Ensembl |
|
|
rs1484293628 CA359831117 |
681 | I>V | No |
ClinGen gnomAD |
|
|
rs143933328 CA3280242 |
683 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747665305 CA3280243 |
683 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA119816078 rs143933328 |
683 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3280244 rs758400200 |
684 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3280245 rs777676385 |
685 | L>S | No |
ClinGen ExAC |
|
|
CA3280246 rs746893024 |
687 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770717460 CA3280247 |
687 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3280249 rs146573146 |
688 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3280248 rs776372328 |
688 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770027277 CA3280250 |
692 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs770027277 CA3280251 |
692 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3280252 rs181081825 |
694 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359831922 rs1414661420 |
698 | L>R | No |
ClinGen TOPMed |
|
|
CA3280270 rs780888788 |
699 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1210812 CA119822236 rs1034134846 |
701 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3280271 rs745671999 |
701 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 702 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374827492 CA3280273 |
703 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 704 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189935692 CA359831958 |
704 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 708 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768886723 CA3280275 |
709 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3280277 rs762462297 |
710 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3280278 rs768110774 |
711 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3280279 rs61757088 |
712 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937161997 CA119822311 |
713 | Y>C | No |
ClinGen gnomAD |
|
|
CA359832020 rs937161997 |
713 | Y>F | No |
ClinGen gnomAD |
|
|
CA359832042 rs1421756439 |
716 | L>S | No |
ClinGen gnomAD |
|
|
CA359832050 rs1186549776 |
717 | S>A | No |
ClinGen gnomAD |
|
|
CA3280280 rs761091372 |
718 | S>P | No |
ClinGen ExAC |
|
|
CA359832078 rs1156863671 |
719 | T>I | No |
ClinGen gnomAD |
|
|
rs561311686 CA119822328 |
721 | F>L | No |
ClinGen Ensembl |
|
|
CA119822883 rs1014679643 |
724 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3280292 rs559321834 |
725 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3280291 rs141249018 |
725 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147414849 CA3280294 |
726 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359832352 rs1185098767 |
727 | V>A | No |
ClinGen TOPMed |
|
|
rs779177559 CA3280296 |
730 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs748238819 CA3280297 |
732 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 737 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280300 rs761022511 |
738 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs958596105 CA119822994 |
739 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1219748829 CA359832442 |
740 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 742 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308465925 CA359832454 |
742 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359832449 rs1229572084 |
742 | T>P | No |
ClinGen gnomAD |
|
|
rs992774745 CA359832463 |
744 | G>C | No |
ClinGen gnomAD |
|
|
CA119823016 rs992774745 |
744 | G>S | No |
ClinGen gnomAD |
|
|
rs917082818 CA119823028 |
746 | V>I | No |
ClinGen gnomAD |
|
|
rs776812474 CA3280303 |
747 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3280305 rs780686969 |
750 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370186556 CA3280326 |
751 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370186556 CA119833829 |
751 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3280325 rs773996013 |
751 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1296439111 CA359837365 |
753 | E>K | No |
ClinGen gnomAD |
|
|
rs200283687 CA119833830 |
755 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs200283687 CA359837435 |
755 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs767072384 CA3280327 |
756 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1191180936 CA359837474 |
758 | V>M | No |
ClinGen TOPMed |
|
|
rs1321029750 CA359837527 |
759 | N>K | No |
ClinGen gnomAD |
|
|
CA359837519 rs1287517173 |
759 | N>S | No |
ClinGen gnomAD |
|
|
CA119833849 rs868340926 |
760 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868340926 CA119833846 |
760 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs146659179 CA3280328 |
761 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1264253146 CA359837570 |
761 | I>T | No |
ClinGen TOPMed |
|
|
CA359837592 rs1196099214 |
762 | L>P | No |
ClinGen TOPMed |
|
|
CA3280329 rs760703853 |
764 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 765 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280330 rs766225269 |
766 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247635339 CA359837714 |
767 | F>L | No |
ClinGen gnomAD |
|
|
rs754837537 CA3280332 |
769 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359837802 rs1455682892 |
772 | P>L | No |
ClinGen Ensembl |
|
|
CA3280334 rs374422328 |
773 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1438104 rs758501230 CA3280335 COSM1695816 CA359837861 |
775 | F>L | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777960523 CA3280336 |
776 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA119833911 rs200501639 |
779 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1401463933 CA359837916 |
779 | I>V | No |
ClinGen TOPMed |
|
|
rs1319381696 CA359837950 |
780 | E>D | No |
ClinGen gnomAD |
|
|
CA359837962 rs1580314582 |
781 | G>R | No |
ClinGen Ensembl |
|
|
rs752519808 CA3280353 |
783 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359838085 rs1227727656 |
783 | R>K | No |
ClinGen gnomAD |
|
|
CA359838091 rs1287756848 |
783 | R>S | No |
ClinGen gnomAD |
|
|
rs758688477 CA3280354 |
784 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1580315525 CA359838097 |
784 | Y>D | No |
ClinGen Ensembl |
|
|
rs1276757183 CA359838126 |
786 | V>I | No |
ClinGen gnomAD |
|
|
rs781208947 CA3280358 |
787 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3280357 COSM1544245 rs533782408 |
787 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466945714 CA359838165 |
788 | M>T | No |
ClinGen TOPMed |
|
|
CA359838191 rs1561359465 |
790 | T>A | No |
ClinGen Ensembl |
|
|
CA3280359 rs746394000 |
790 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424566225 CA359838210 |
791 | Y>C | No |
ClinGen TOPMed |
|
|
CA359838203 rs1470870890 |
791 | Y>D | No |
ClinGen gnomAD |
|
|
CA359838244 rs1423991767 |
793 | G>V | No |
ClinGen gnomAD |
|
|
CA3280362 rs749608960 |
795 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368503872 CA359838291 |
797 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA359838293 rs1368503872 |
797 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3280363 rs771818177 |
797 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3280365 rs746610346 |
800 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273200828 CA359838352 |
801 | Q>L | No |
ClinGen gnomAD |
|
|
rs1235329200 CA359838368 |
802 | N>S | No |
ClinGen gnomAD |
|
|
rs1316960196 CA359838383 |
803 | T>N | No |
ClinGen TOPMed |
|
|
rs759595648 CA3280368 |
804 | S>I | No |
ClinGen ExAC |
|
|
CA3280369 rs759595648 |
804 | S>N | No |
ClinGen ExAC |
|
|
rs1340489473 CA359838407 |
805 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA359838411 rs1340489473 |
805 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA359838409 rs1340489473 |
805 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3280371 rs762667790 |
806 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 807 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1561359523 | 807 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280372 rs763881482 |
807 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1252949518 CA359838470 |
809 | L>V | No |
ClinGen gnomAD |
|
|
CA3280373 rs751761146 |
810 | L>V | No |
ClinGen ExAC |
|
|
rs1440095885 CA359838494 |
811 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3280374 rs371372717 |
812 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750467704 CA3280376 |
813 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576558462 CA3280377 |
814 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1388025918 CA359838555 |
815 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1388025918 CA359838557 |
815 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3280378 rs780522085 |
816 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3280379 rs754317065 |
817 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755305860 CA3280380 |
818 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA3280381 rs779300486 |
819 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359838659 rs1330631044 |
820 | E>D | No |
ClinGen gnomAD |
|
|
rs1422636090 CA359842492 |
821 | M>V | No |
ClinGen gnomAD |
|
|
rs1414217600 CA359842591 |
824 | L>R | No |
ClinGen TOPMed |
|
|
rs146240342 CA359842680 CA3280402 |
828 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753081477 CA3280403 |
829 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222286205 CA359842753 |
831 | M>I | No |
ClinGen TOPMed |
|
|
rs757039363 CA3280404 |
831 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA359842777 rs1464126931 |
832 | W>* | No |
ClinGen gnomAD |
|
|
CA359842785 rs780980239 |
833 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3280405 rs780980239 |
833 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA119840144 rs1052155566 |
834 | D>N | No |
ClinGen gnomAD |
|
|
rs745446195 CA3280406 |
835 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368418025 CA119840147 |
837 | D>G | No |
ClinGen Ensembl |
|
|
CA119840151 rs770466390 |
838 | N>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 838 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779567382 CA3280408 |
839 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3280407 rs769459035 |
839 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1167128810 CA359842896 |
840 | T>I | No |
ClinGen gnomAD |
|
|
rs1453241241 CA359842903 |
841 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 846 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs188277939 CA3280410 |
848 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148438020 CA3280411 |
849 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359843124 rs1394651578 |
850 | L>F | No |
ClinGen gnomAD |
|
|
rs1207666708 CA359843153 |
852 | L>S | No |
ClinGen TOPMed |
|
|
CA3280412 rs747922696 |
853 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs145750694 CA3280414 |
854 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3280415 rs145750694 |
854 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3280417 rs376589984 |
855 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376589984 CA3280416 |
855 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239246280 CA359843252 |
857 | P>T | No |
ClinGen gnomAD |
|
|
CA359843263 rs1262111820 |
858 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760002986 CA3280418 |
859 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1342486801 CA359843283 |
859 | D>N | No |
ClinGen gnomAD |
|
|
rs1382586043 CA359848228 |
867 | F>L | No |
ClinGen gnomAD |
|
|
rs776955732 CA3280558 |
868 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1052400409 CA119796180 |
870 | I>S | No |
ClinGen TOPMed |
|
|
rs1378757596 CA359848259 |
871 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748977608 CA3280559 |
873 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1165706072 CA359848339 |
877 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1399018653 CA359848374 |
879 | H>R | No |
ClinGen gnomAD |
|
|
rs768185522 CA3280560 |
881 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs377248497 CA3280562 CA359848430 |
882 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773965352 CA3280561 |
882 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746331073 CA119796211 |
883 | T>M | No |
ClinGen gnomAD |
|
|
rs773312265 CA3280564 |
885 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs760638524 CA3280565 |
888 | T>R | No |
ClinGen ExAC |
|
| TCGA novel | 893 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760736531 CA3280583 |
894 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA359850002 rs760736531 |
894 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1489728575 CA359850038 |
898 | S>F | No |
ClinGen gnomAD |
|
|
rs148964090 CA359850041 |
899 | H>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770988812 CA3280584 |
899 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs148964090 CA119803376 |
899 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA119803382 rs971919591 |
900 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359850064 rs1195291091 |
901 | E>G | No |
ClinGen gnomAD |
|
|
CA3280586 rs759263278 |
903 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765020164 CA3280587 |
904 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752898040 CA3280588 |
905 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3280589 rs763188480 |
906 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1362311844 CA359850134 |
907 | E>D | No |
ClinGen TOPMed |
|
|
CA3280590 rs373125036 |
908 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 914 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297470524 CA359850216 |
915 | Q>P | No |
ClinGen gnomAD |
|
|
CA359850225 rs1361160930 |
916 | D>H | No |
ClinGen gnomAD |
|
|
CA359850223 rs1361160930 |
916 | D>N | No |
ClinGen gnomAD |
|
|
rs1400674403 CA359850248 |
918 | R>K | No |
ClinGen gnomAD |
|
|
rs751631480 CA3280591 |
919 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 919 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757815265 CA359850278 |
920 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA359853870 rs1580407457 |
927 | P>L | No |
ClinGen Ensembl |
|
|
rs1441303176 CA359853902 |
929 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1441303176 CA359853895 |
929 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs911064260 CA119821742 |
930 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3280606 rs763149058 |
931 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3280609 rs761882093 |
935 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3280608 rs774495999 |
935 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 936 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_050005 CA3280610 rs11544795 |
937 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 938 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359854086 COSM1069273 rs1236468159 |
943 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3280613 rs200779798 |
944 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176904629 CA359854128 |
944 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 946 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754227480 CA3280614 |
948 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280615 rs758045217 |
949 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3280616 rs777582244 |
950 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262091553 CA359854291 |
951 | Q>E | No |
ClinGen Ensembl |
|
|
rs201600288 CA359854305 |
951 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280617 rs746593562 |
951 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA359854311 rs1282105443 |
952 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 957 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280127344 CA359854993 |
958 | E>G | No |
ClinGen gnomAD |
|
|
rs1561393949 CA359855021 |
960 | V>G | No |
ClinGen Ensembl |
|
|
rs148719141 CA3280619 |
962 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1196558314 CA359855160 |
969 | Q>R | No |
ClinGen gnomAD |
|
|
CA359855186 rs1478319937 |
970 | E>D | No |
ClinGen gnomAD |
|
|
CA359855169 rs1245284833 |
970 | E>K | No |
ClinGen TOPMed |
|
|
rs941905075 CA119821805 |
972 | L>W | No |
ClinGen Ensembl |
|
|
CA359855268 rs1431572033 CA359855267 |
975 | F>L | No |
ClinGen gnomAD |
No associated diseases with Q9UI26
1 regional properties for Q9UI26
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Importin-beta, N-terminal domain | 28 - 100 | IPR001494 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear import signal receptor activity | Combining with a nuclear import signal (NIS) on a cargo to be transported, to mediate transport of the cargo through the nuclear pore, from the cytoplasm to the nuclear lumen. The cargo can be either a RNA or a protein. |
| small GTPase binding | Binding to a small monomeric GTPase. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| ribosomal protein import into nucleus | The directed movement of a ribosomal protein from the cytoplasm into the nucleus, across the nuclear membrane. At least some ribosomal proteins, including rpl12, uses the importin 11 pathway as a major route into the nucleus. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLNSASTVV | LQVLTQATSQ | DTAVLKPAEE | QLKQWETQPG | FYSVLLNIFT | NHTLDINVRW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAVLYFKHGI | DRYWRRVAPH | ALSEEEKTTL | RAGLITNFNE | PINQIATQIA | VLIAKVARLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CPRQWPELIP | TLIESVKVQD | DLRQHRALLT | FYHVTKTLAS | KRLAADRKLF | YDLASGIYNF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ACSLWNHHTD | TFLQEVSSGN | EAAILSSLER | TLLSLKVLRK | LTVNGFVEPH | KNMEVMGFLH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GIFERLKQFL | ECSRSIGTDN | VCRDRLEKTI | ILFTKVLLDF | LDQHPFSFTP | LIQRSLEFSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYVFTEVGEG | VTFERFIVQC | MNLIKMIVKN | YAYKPSKNFE | DSSPETLEAH | KIKMAFFTYP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLTEICRRLV | SHYFLLTEEE | LTMWEEDPEG | FTVEETGGDS | WKYSLRPCTE | VLFIDIFHEY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NQTLTPVLLE | MMQTLQGPTN | VEDMNALLIK | DAVYNAVGLA | AYELFDSVDF | DQWFKNQLLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELQVIHNRYK | PLRRRVIWLI | GQWISVKFKS | DLRPMLYEAI | CNLLQDQDLV | VRIETATTLK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LTVDDFEFRT | DQFLPYLETM | FTLLFQLLQQ | VTECDTKMHV | LHVLSCVIER | VNMQIRPYVG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CLVQYLPLLW | KQSEEHNMLR | CAILTTLIHL | VQGLGADSKN | LYPFLLPVIQ | LSTDVSQPPH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VYLLEDGLEL | WLVTLENSPC | ITPELLRIFQ | NMSPLLELSS | ENLRTCFKII | NGYIFLSSTE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FLQTYAVGLC | QSFCELLKEI | TTEGQVQVLK | VVENALKVNP | ILGPQMFQPI | LPYVFKGIIE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GERYPVVMST | YLGVMGRVLL | QNTSFFSSLL | NEMAHKFNQE | MDQLLGNMIE | MWVDRMDNIT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QPERRKLSAL | ALLSLLPSDN | SVIQDKFCGI | INISVEGLHD | VMTEDPETGT | YKDCMLMSHL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EEPKVTEDEE | PPTEQDKRKK | MLALKDPVHT | VSLQQFIYEK | LKAQQEMLGE | QGFQSLMETV |
| 970 | |||||
| DTEIVTQLQE | FLQGF |