Q8NI08
PR
Gene name |
NCOA7 (ERAP140, ESNA1, Nbla00052, Nbla10993) |
Protein name |
Nuclear receptor coactivator 7 |
Names |
140 kDa estrogen receptor-associated protein, Estrogen nuclear receptor coactivator 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:135112 |
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
4 structures for Q8NI08
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7OBP | X-ray | 180 A | A/B/C/D/E/F | 777-942 | PDB |
| 8AR6 | X-ray | 220 A | A/B/C | 781-942 | PDB |
| 8AR9 | X-ray | 236 A | A | 781-942 | PDB |
| AF-Q8NI08-F1 | Predicted | AlphaFoldDB |
703 variants for Q8NI08
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762469052 CA3986600 |
2 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA147639404 rs922408870 |
3 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA365575255 rs922408870 |
3 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3986602 rs751232866 |
4 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397266795 CA365575272 |
4 | K>N | No |
ClinGen gnomAD |
|
|
rs759182816 CA3986603 |
7 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs764508388 CA3986604 |
8 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986606 rs371057703 |
10 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376999603 CA3986605 |
10 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779597306 CA3986607 |
11 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779597306 CA3986608 |
11 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986611137 CA147639405 |
12 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA147639406 rs978897601 |
14 | Y>C | No |
ClinGen Ensembl |
|
|
rs200032896 CA3986609 |
14 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3986610 rs780063259 |
16 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543860043 CA3986611 |
17 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365575439 rs768808874 |
17 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986612 rs768808874 |
17 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562915078 CA365490612 |
18 | L>V | No |
ClinGen Ensembl |
|
|
rs765782745 CA3986628 |
20 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA147124396 rs143919292 |
22 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA365490671 rs1478591854 |
23 | Q>K | No |
ClinGen gnomAD |
|
|
CA3986629 rs183394656 |
24 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3986630 rs183394656 |
24 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA147124410 rs1028826506 |
25 | K>E | No |
ClinGen gnomAD |
|
|
rs1434501616 CA365490697 |
25 | K>R | No |
ClinGen gnomAD |
|
|
CA3986631 rs766460991 |
26 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3986632 rs751630362 |
27 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365490776 rs1174989096 |
31 | A>S | No |
ClinGen gnomAD |
|
|
CA3986634 rs781288780 |
34 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365490811 rs781288780 |
34 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025245959 CA365490825 |
35 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA147124439 rs1025245959 |
35 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3986636 rs755904508 |
35 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751510610 CA3986637 |
36 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365490832 rs1284126620 |
36 | T>R | No |
ClinGen gnomAD |
|
|
rs749213685 CA3986638 |
37 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365490840 rs1221753773 |
37 | R>S | No |
ClinGen gnomAD |
|
|
CA365490846 rs1297658383 |
38 | T>A | No |
ClinGen gnomAD |
|
|
rs770909278 CA365490849 |
38 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770909278 CA3986639 |
38 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249349961 CA365490856 |
39 | H>R | No |
ClinGen gnomAD |
|
|
CA3986640 rs773883686 |
39 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs375340145 CA147124452 |
41 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs529214502 CA3986643 |
44 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365490906 rs771705852 |
44 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529214502 CA365490908 |
44 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3986642 rs771705852 |
44 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195138637 CA365490914 |
45 | N>Y | No |
ClinGen gnomAD |
|
|
rs574387361 CA147124457 |
46 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1583385221 CA365490935 |
46 | N>K | No |
ClinGen Ensembl |
|
|
rs1319240164 CA365490947 |
48 | V>I | No |
ClinGen gnomAD |
|
|
CA3986644 rs147393001 |
52 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378108922 CA365491002 |
52 | P>S | No |
ClinGen TOPMed |
|
|
CA365491017 rs1452331180 |
53 | D>G | No |
ClinGen TOPMed |
|
|
rs1251991506 CA365491033 |
55 | C>G | No |
ClinGen TOPMed |
|
|
CA147124479 rs1033837864 |
55 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3986645 rs765682345 |
56 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365491068 rs1213287072 |
57 | I>M | No |
ClinGen TOPMed |
|
|
CA365491064 rs1290670667 |
57 | I>T | No |
ClinGen gnomAD |
|
|
rs763522495 CA3986647 |
57 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766825580 CA3986648 |
60 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986649 rs142658591 CA3986650 |
62 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3986652 rs752909312 |
63 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767709968 CA3986651 |
63 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1310293003 CA365491143 |
64 | M>I | No |
ClinGen TOPMed |
|
|
CA147124523 rs989304683 |
64 | M>T | No |
ClinGen gnomAD |
|
|
rs777525135 CA3986654 |
65 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986656 rs766964758 |
67 | E>D | No |
ClinGen ExAC |
|
|
rs1225922631 TCGA novel CA365491189 |
68 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA365491203 rs1242246855 |
69 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA147124531 rs971881607 |
69 | K>R | No |
ClinGen Ensembl |
|
| rs749319230 | 70 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78815147 CA147124532 |
70 | K>R | No |
ClinGen Ensembl |
|
|
rs770852055 CA3986658 |
73 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs770852055 CA147124537 |
73 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs945056668 CA147124547 |
74 | N>S | No |
ClinGen TOPMed |
|
|
rs1376063650 CA365491480 |
75 | Q>R | No |
ClinGen TOPMed |
|
|
rs987770322 CA147124554 |
78 | E>A | No |
ClinGen TOPMed |
|
|
CA365491518 rs1260244774 |
78 | E>D | No |
ClinGen gnomAD |
|
|
COSM1743874 rs150585521 CA3986660 |
79 | I>V | biliary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1072908 CA3986661 rs779767564 |
81 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746636348 CA3986662 COSM3393794 |
81 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746636348 CA365491547 |
81 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746636348 CA365491546 |
81 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986663 rs768462504 |
82 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365491630 rs1287102833 |
88 | Y>C | No |
ClinGen gnomAD |
|
|
CA3986667 rs763428656 |
89 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs771407165 CA3986668 |
90 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3986689 rs771192303 |
91 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA365492775 rs1439638435 |
94 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3986692 rs759941790 |
98 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3986693 rs188124268 |
99 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365492820 rs1343404910 |
100 | K>E | No |
ClinGen gnomAD |
|
|
CA365492839 rs1583435524 |
102 | E>G | No |
ClinGen Ensembl |
|
|
rs760770213 CA3986695 |
104 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA3986696 rs764243384 |
104 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs986225466 | 104 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762163980 CA3986698 |
105 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs139662554 CA3986697 |
105 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365492894 rs1230194564 |
110 | P>S | No |
ClinGen TOPMed |
|
|
rs750270959 CA3986700 |
111 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3986701 rs758228787 |
112 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA365492911 rs1168406326 |
113 | T>A | No |
ClinGen gnomAD |
|
|
CA3986702 rs780162438 |
114 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365492947 rs1451895130 |
117 | T>S | No |
ClinGen TOPMed |
|
|
CA3986726 rs143153057 |
118 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3986725 rs143153057 |
118 | A>T | Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1463454817 CA365493722 |
119 | G>E | No |
ClinGen gnomAD |
|
|
CA365493746 rs1562963355 |
122 | D>G | No |
ClinGen Ensembl |
|
|
rs770137193 CA147135436 |
123 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1331721012 CA365493774 |
127 | I>V | No |
ClinGen TOPMed |
|
|
CA365493780 rs1185037863 |
128 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3986729 rs765933623 |
132 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470203624 CA365493834 |
134 | T>I | No |
ClinGen gnomAD |
|
|
CA365493855 rs1290494178 |
136 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3986731 rs780464834 |
138 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365493895 rs747504000 |
139 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3986732 rs747504000 |
139 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs769189920 CA3986733 |
142 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs776532447 CA3986734 |
145 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395791948 CA365493987 |
146 | T>I | No |
ClinGen gnomAD |
|
|
CA365494014 rs1235951475 |
149 | I>V | No |
ClinGen TOPMed |
|
|
CA365494054 rs1239894536 |
153 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs949526741 CA147136833 |
156 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774250411 CA3986761 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA365494409 rs1462810563 |
159 | D>N | No |
ClinGen gnomAD |
|
|
rs1174982896 CA365494420 |
160 | A>D | No |
ClinGen TOPMed |
|
|
CA365494419 rs1168259191 |
160 | A>T | No |
ClinGen gnomAD |
|
|
rs771850255 CA3986763 |
161 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147136835 rs948280883 |
162 | S>Y | No |
ClinGen TOPMed |
|
|
rs1366971187 CA365494459 |
166 | T>I | No |
ClinGen gnomAD |
|
|
rs1046456907 CA147136841 |
167 | L>S | No |
ClinGen Ensembl |
|
|
rs1297635814 CA365494484 |
170 | S>L | No |
ClinGen gnomAD |
|
|
rs1280057337 CA365494498 |
173 | S>G | No |
ClinGen TOPMed |
|
|
rs760596124 CA365494500 |
173 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760596124 CA3986766 |
173 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763647601 CA3986767 |
174 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147136868 rs938174300 |
178 | V>L | No |
ClinGen Ensembl |
|
|
CA3986769 rs144053168 |
180 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365494542 rs144053168 |
180 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365494540 rs1305054471 |
180 | P>S | No |
ClinGen TOPMed |
|
|
rs1305054471 CA365494538 |
180 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3986770 rs764891191 |
182 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1487200281 CA365494559 |
183 | S>L | No |
ClinGen gnomAD |
|
|
CA3986774 rs781472367 |
184 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs538540516 CA3986773 |
184 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751862607 CA3986772 |
184 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1246493491 CA365494567 |
185 | A>E | No |
ClinGen gnomAD |
|
|
CA147136902 rs935102354 |
185 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365494582 rs1426846481 |
187 | Y>C | No |
ClinGen gnomAD |
|
|
rs753230138 CA3986775 |
188 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349442308 CA365494594 |
189 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365494607 rs1052020481 |
190 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3986796 rs753914654 |
192 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986797 rs753914654 |
192 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572921616 CA3986798 |
193 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224991312 COSM3828970 CA365494639 |
194 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1183140371 CA365494648 |
195 | L>V | No |
ClinGen gnomAD |
|
|
CA365494661 rs1327835450 |
197 | R>* | No |
ClinGen gnomAD |
|
|
rs758598843 CA3986800 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3986801 rs779870115 |
199 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147137624 rs1017439807 |
199 | A>V | No |
ClinGen gnomAD |
|
|
rs768579296 CA3986803 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365494709 rs1196881282 |
203 | I>S | No |
ClinGen TOPMed |
|
|
rs1425834219 CA365494741 |
204 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA365494752 rs776552678 |
205 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365494757 rs1191244270 |
205 | R>I | No |
ClinGen gnomAD |
|
|
rs961463674 CA147137664 |
208 | S>L | No |
ClinGen gnomAD |
|
|
CA3986806 rs748150025 |
208 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3986807 rs769275949 |
210 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA365494888 rs1483953864 |
214 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365494928 rs1227321080 |
216 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 218 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365495042 rs1462758902 |
223 | K>N | No |
ClinGen gnomAD |
|
|
rs1348162583 CA365495080 |
225 | N>I | No |
ClinGen TOPMed |
|
|
CA365495111 rs1470128379 |
227 | R>* | No |
ClinGen gnomAD |
|
|
CA365495113 rs1333205917 |
227 | R>Q | No |
ClinGen gnomAD |
|
|
rs772754192 CA3986808 |
228 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443978763 CA365495119 |
228 | Y>H | No |
ClinGen gnomAD |
|
|
rs866444104 CA147137691 |
231 | D>E | No |
ClinGen Ensembl |
|
|
CA3986810 rs765975449 |
231 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986811 rs765975449 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425035170 CA365496168 |
234 | G>V | No |
ClinGen TOPMed |
|
|
rs1427473166 CA365496196 |
236 | V>F | No |
ClinGen gnomAD |
|
|
rs1562978661 CA365496205 |
237 | G>D | No |
ClinGen Ensembl |
|
|
CA3986833 rs777189437 |
238 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762382381 CA3986834 |
240 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3986835 rs765879974 |
241 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1423513949 CA365496342 |
244 | P>L | No |
ClinGen TOPMed |
|
|
rs750470281 CA3986836 |
246 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs762943973 CA3986837 |
247 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762943973 CA3986838 |
247 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365496418 rs1364883129 |
248 | M>I | No |
ClinGen gnomAD |
|
|
rs1226551764 CA365496446 |
250 | D>E | No |
ClinGen gnomAD |
|
|
rs201538729 CA3986839 |
257 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1357162720 CA365496583 |
258 | V>A | No |
ClinGen gnomAD |
|
|
rs1209249991 CA365496598 |
259 | I>T | No |
ClinGen gnomAD |
|
|
CA3986840 rs755242256 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365496758 rs1241995595 |
268 | L>R | No |
ClinGen TOPMed |
|
|
rs535307523 CA365496786 |
271 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267124337 CA365496790 |
271 | P>R | No |
ClinGen TOPMed |
|
|
rs535307523 CA3986842 |
271 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748766933 CA3986845 |
272 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs777587206 CA3986844 |
272 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA3986847 rs572278982 |
279 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459321375 CA365496891 |
281 | Y>C | No |
ClinGen gnomAD |
|
|
CA3986850 rs564180167 COSM313158 |
282 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA147139078 rs931099663 |
284 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762294306 CA3986851 |
287 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365496982 rs1301000338 |
289 | I>T | No |
ClinGen TOPMed |
|
|
CA365497006 rs773584572 |
292 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773584572 CA3986853 |
292 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986855 rs543364532 |
294 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs1562979626 CA365497024 |
295 | S>F | No |
ClinGen Ensembl |
|
|
rs988178603 CA147140863 |
298 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA365497837 rs1562142331 |
298 | P>S | No |
ClinGen Ensembl |
|
|
CA3986871 rs770038637 |
300 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986870 rs770038637 |
300 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986872 rs763337485 |
303 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1256418197 CA365497961 |
304 | L>P | No |
ClinGen gnomAD |
|
|
rs764078671 CA147140886 |
305 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3986874 rs774244865 |
307 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986875 rs759623544 |
307 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767661988 CA3986877 |
309 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA3986879 rs140645084 |
312 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365498126 rs1173228150 |
314 | A>T | No |
ClinGen TOPMed |
|
|
CA3986880 rs375885152 |
316 | E>D | No |
ClinGen ESP ExAC |
|
|
rs1471926896 CA365498212 |
318 | D>G | No |
ClinGen gnomAD |
|
|
CA3986881 rs753710443 |
318 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3986882 rs757105457 |
319 | I>V | No |
ClinGen ExAC |
|
|
CA365498255 rs1178824280 |
320 | N>I | No |
ClinGen gnomAD |
|
|
CA147140941 rs992256253 |
320 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365498262 rs1178824280 |
320 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3986883 rs765245137 |
323 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA365498336 rs1173289232 |
323 | S>N | No |
ClinGen TOPMed |
|
|
CA3986884 rs749896848 |
323 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA3986885 rs757975016 |
326 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs116306619 CA365498465 |
329 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3986887 rs116306619 |
329 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3986888 rs754695094 |
329 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435779946 CA365498514 |
331 | E>D | No |
ClinGen TOPMed |
|
|
CA365498510 rs1196775487 |
331 | E>G | No |
ClinGen Ensembl |
|
|
CA3986889 rs777959779 |
333 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3986890 rs369614528 |
333 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771283898 CA3986891 |
334 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230703670 CA365498617 |
337 | G>E | No |
ClinGen gnomAD |
|
|
CA3986892 rs774841708 |
340 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3986893 rs373079600 |
341 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772127597 CA3986894 |
342 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs775596532 CA3986895 |
343 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764412233 CA3986897 |
347 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs987830144 CA147141047 |
348 | I>T | No |
ClinGen TOPMed |
|
|
CA147141041 rs937693068 |
348 | I>V | No |
ClinGen gnomAD |
|
|
rs776243987 CA3986898 |
349 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765019852 CA3986900 |
351 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3986901 rs750370775 |
355 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1300315325 CA365498838 |
356 | G>R | No |
ClinGen TOPMed |
|
|
CA3986903 rs751495037 |
357 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1368857365 CA365498855 |
357 | H>R | No |
ClinGen gnomAD |
|
|
CA3986902 rs758455986 |
357 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365498871 rs1294046776 |
358 | T>I | No |
ClinGen gnomAD |
|
|
rs751145926 CA3986904 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986905 rs754536662 |
360 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562142934 CA365498888 |
360 | T>S | No |
ClinGen Ensembl |
|
|
rs1299606826 CA365498898 |
361 | K>E | No |
ClinGen gnomAD |
|
|
CA365498902 rs1260218784 |
361 | K>R | No |
ClinGen gnomAD |
|
|
rs757638750 CA3986908 |
363 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986907 rs749547398 |
363 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1294933629 CA365498932 |
364 | G>D | No |
ClinGen gnomAD |
|
|
CA3986909 rs779309268 |
365 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA365498969 rs1453775644 |
368 | S>L | No |
ClinGen TOPMed |
|
|
rs1380829930 CA365498975 |
369 | E>A | No |
ClinGen TOPMed |
|
|
CA147141138 rs888098479 COSM1072926 |
369 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1221579883 CA365498972 |
369 | E>K | No |
ClinGen gnomAD |
|
|
rs1468414657 CA365498984 |
370 | K>E | No |
ClinGen TOPMed |
|
|
CA365499035 rs1488413734 |
373 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3986910 rs746353227 |
374 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA365499069 rs1210418569 |
375 | D>G | No |
ClinGen TOPMed |
|
|
rs1188180968 CA365499087 |
376 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3986913 rs775512448 |
377 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747138458 CA3986914 |
380 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3986915 rs768706324 |
380 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3986916 rs776920169 |
381 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3986919 rs200016372 |
383 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3986920 rs762940352 |
384 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365499215 rs762940352 |
384 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762940352 CA365499216 |
384 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365499246 rs1380840647 |
386 | T>I | No |
ClinGen gnomAD |
|
|
rs1036780156 CA147141211 |
388 | T>A | No |
ClinGen Ensembl |
|
|
rs751055979 CA3986922 |
390 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365499368 rs1583469209 |
393 | E>D | No |
ClinGen Ensembl |
|
|
rs1285101321 CA365499378 |
394 | P>L | No |
ClinGen TOPMed |
|
|
CA365499391 rs1232071252 |
396 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201370198 CA3986925 |
397 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365499402 rs1562143586 |
397 | T>P | No |
ClinGen Ensembl |
|
|
rs6919947 VAR_026965 CA3986926 |
399 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365499426 rs6919947 |
399 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365499436 rs1208453069 |
400 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3986927 rs755772364 |
404 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365499516 rs1484386629 |
407 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs186125486 CA3986928 |
408 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373567630 CA147141312 |
412 | E>G | No |
ClinGen Ensembl |
|
|
rs763347542 CA147141337 |
413 | D>N | No |
ClinGen Ensembl |
|
|
CA3986931 rs780556545 |
415 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3986932 rs746997477 |
418 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1407024066 CA365499612 |
419 | L>V | No |
ClinGen TOPMed |
|
|
rs1360663735 CA365499615 |
419 | L>W | No |
ClinGen gnomAD |
|
|
CA365499644 rs1028669371 |
423 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1028669371 CA147141378 |
423 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1562143859 CA365499650 |
424 | S>F | No |
ClinGen Ensembl |
|
|
CA147141386 rs865781906 |
426 | T>N | No |
ClinGen Ensembl |
|
|
CA147141389 rs942760434 |
428 | G>D | No |
ClinGen TOPMed |
|
|
rs889685743 CA147141388 |
428 | G>S | No |
ClinGen Ensembl |
|
|
rs768779704 CA3986933 |
429 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1000500821 CA147141399 |
430 | M>V | No |
ClinGen Ensembl |
|
|
rs748368226 CA3986935 |
432 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs770167133 CA3986936 |
433 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3986937 rs773092760 |
434 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986939 rs762855004 |
435 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986938 rs762855004 |
435 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986940 rs191078454 |
438 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs191078454 CA147141436 |
438 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374422616 CA3986941 |
440 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1211153832 CA365499764 |
442 | L>P | No |
ClinGen gnomAD |
|
|
CA3986943 rs767033570 |
443 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986942 rs767033570 |
443 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365499772 rs1484736415 |
444 | P>A | No |
ClinGen gnomAD |
|
|
CA365499793 rs1252481841 |
446 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1184391848 CA365499787 |
446 | E>K | No |
ClinGen gnomAD |
|
|
CA147141475 rs958030764 |
447 | R>* | No |
ClinGen TOPMed |
|
|
CA365499794 rs958030764 |
447 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3986944 rs377026001 |
447 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469830926 CA365499804 |
448 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370205373 CA3986945 |
450 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365499832 rs1427086491 |
453 | Q>K | No |
ClinGen gnomAD |
|
|
CA365499844 rs1414812746 |
454 | I>T | No |
ClinGen gnomAD |
|
|
CA3986946 rs375358564 |
455 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365499851 rs1451599458 |
455 | N>I | No |
ClinGen TOPMed |
|
|
rs758769285 CA3986947 |
455 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583469691 CA365499860 |
456 | N>K | No |
ClinGen Ensembl |
|
|
rs138843029 CA3986951 |
459 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365499881 rs1409819363 |
460 | E>K | No |
ClinGen gnomAD |
|
|
rs748195604 CA3986952 |
461 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986953 rs770083043 |
462 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs778145279 CA3986954 |
463 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1263258949 CA365499902 |
463 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 466 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3986955 rs149505195 |
466 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA147141583 rs751545193 |
469 | F>L | No |
ClinGen Ensembl |
|
|
CA147141596 rs1032469891 |
472 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1333167372 CA365499965 |
473 | E>G | No |
ClinGen TOPMed |
|
|
CA3986958 rs745788703 |
473 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365499980 rs1289779619 |
475 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3986959 rs771934164 |
475 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA365500011 rs1214412586 |
480 | G>R | No |
ClinGen Ensembl |
|
|
rs1478251240 CA365500017 |
481 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3986960 rs372534958 |
481 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 482 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365500043 rs1222855571 |
485 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 486 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365500052 rs1248787646 |
486 | T>S | No |
ClinGen gnomAD |
|
|
CA3986963 rs146470413 |
487 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450985502 CA365500059 |
487 | C>Y | No |
ClinGen gnomAD |
|
|
rs368223793 CA3986964 CA3986965 |
488 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3986966 rs751898562 |
489 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs755460281 CA3986967 |
490 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1177084719 CA365500081 |
490 | Q>H | No |
ClinGen gnomAD |
|
|
CA365500088 rs1352088280 |
491 | D>V | No |
ClinGen gnomAD |
|
|
rs546589425 CA3986970 |
492 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3986969 rs752755646 |
492 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986968 rs767919614 |
492 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778055447 COSM739327 CA3986972 |
493 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3986973 rs749500977 |
495 | E>D | No |
ClinGen ExAC |
|
|
CA147141734 rs984770226 |
496 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757594975 CA3986974 |
497 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291965458 CA365500133 |
498 | K>R | No |
ClinGen gnomAD |
|
|
CA3986975 rs778729370 |
500 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs745673617 CA3986976 |
502 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365500165 rs1466076070 |
503 | P>L | No |
ClinGen gnomAD |
|
|
CA365500184 rs1188814011 |
506 | R>Q | No |
ClinGen gnomAD |
|
|
rs775298815 CA3986978 |
507 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs372823012 CA3986980 |
509 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406504030 CA365500207 |
510 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1406504030 CA365500209 |
510 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776156215 CA3986982 |
512 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148679234 CA3986983 |
513 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774715567 CA365500233 |
514 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986984 rs764814940 |
514 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774715567 CA3986985 |
514 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764814940 CA147141795 |
514 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986986 rs759822881 |
518 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141852226 CA3986987 |
519 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3986988 rs753241068 |
521 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs756732837 CA3986989 |
523 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764239862 CA3986991 CA3986990 |
526 | Y>* | No |
ClinGen ExAC |
|
|
rs922315480 CA147141886 |
528 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 529 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779017151 CA3986993 |
530 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757452276 CA3986992 |
530 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3986994 rs745613066 |
531 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA365500347 rs1247060202 |
531 | K>R | No |
ClinGen gnomAD |
|
|
rs747527317 CA147141902 |
533 | G>E | No |
ClinGen Ensembl |
|
|
CA3986995 VAR_050438 rs35223550 |
533 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779960210 CA3986996 |
536 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365500391 rs1164852139 |
538 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1164852139 CA365500392 |
538 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs139109113 CA3986997 |
545 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459176072 CA365500466 |
548 | G>E | No |
ClinGen gnomAD |
|
|
CA3986999 rs144006908 |
549 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000158093 CA147141932 |
550 | S>C | No |
ClinGen Ensembl |
|
|
rs747667483 CA3987000 |
550 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3987002 rs772734406 |
551 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199688950 CA147141957 |
552 | E>Q | No |
ClinGen Ensembl |
|
|
rs1562145470 CA365500497 |
553 | P>L | No |
ClinGen Ensembl |
|
|
rs1054743490 CA147141963 |
553 | P>S | No |
ClinGen Ensembl |
|
|
CA365500502 rs1291394125 |
554 | G>E | No |
ClinGen gnomAD |
|
|
CA3987004 rs762722214 |
554 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147141979 rs1009496832 |
555 | G>E | No |
ClinGen Ensembl |
|
|
CA3987006 rs772300056 |
556 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761225591 CA3987008 |
557 | D>V | No |
ClinGen ExAC |
|
|
CA3987007 rs776039210 |
557 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365500535 rs1348274078 |
560 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1201882367 CA365500573 |
565 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453172547 CA365500576 |
566 | Q>* | No |
ClinGen TOPMed |
|
|
rs753912725 CA3987010 |
566 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3987009 rs764720234 |
566 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761807330 CA3987011 |
567 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs569408777 CA3987012 |
567 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183526634 CA365500590 |
568 | G>V | No |
ClinGen gnomAD |
|
|
CA365500607 rs1363641710 |
571 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3987014 rs758698853 |
575 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3987015 rs779781395 |
575 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1483676895 CA365500686 |
577 | E>V | No |
ClinGen TOPMed |
|
|
rs150951617 CA3987016 |
579 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147142090 rs956648803 |
580 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs781108701 CA3987018 |
580 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3987017 rs200286641 |
580 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365500764 rs1410432800 |
583 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
TCGA novel rs1333783578 CA365500798 |
585 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs769172427 CA3987020 |
585 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3987021 rs139541345 |
586 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365500813 rs1337335890 |
587 | E>A | No |
ClinGen TOPMed |
|
|
rs1275104997 CA365500826 |
588 | P>A | No |
ClinGen gnomAD |
|
|
CA147142124 rs959801687 |
588 | P>L | No |
ClinGen Ensembl |
|
|
CA147142178 rs910101745 |
589 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 589 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3987023 rs770648833 |
590 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770648833 CA365500846 |
590 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365500856 rs1483088840 COSM594089 |
591 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365500883 rs1206514340 |
593 | L>P | No |
ClinGen gnomAD |
|
|
CA3987025 rs761135818 |
594 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA147142209 rs922243401 |
595 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 595 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365500919 rs1432327126 |
596 | S>F | No |
ClinGen TOPMed |
|
|
rs777275727 CA3987027 |
597 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 598 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365500947 rs1583470866 |
599 | A>T | No |
ClinGen Ensembl |
|
|
rs933783317 CA147142238 |
600 | N>D | No |
ClinGen gnomAD |
|
|
rs933783317 CA365500956 |
600 | N>H | No |
ClinGen gnomAD |
|
|
CA3987028 rs762442427 |
602 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3987029 rs765213759 |
604 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1583470924 CA365501083 |
609 | S>F | No |
ClinGen Ensembl |
|
|
rs1159662827 CA365501077 |
609 | S>P | No |
ClinGen TOPMed |
|
|
CA3987030 rs750560265 |
610 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA365501132 rs766597149 |
613 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3987032 rs766597149 COSM1194726 |
613 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs371248704 CA3987034 |
615 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147142253 rs985802425 |
616 | N>D | No |
ClinGen TOPMed |
|
|
CA365501166 rs1185982893 |
616 | N>T | No |
ClinGen TOPMed |
|
|
CA365501164 rs985802425 |
616 | N>Y | No |
ClinGen TOPMed |
|
|
rs767357312 CA3987035 |
618 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA365501219 rs1485394260 |
619 | Q>E | No |
ClinGen TOPMed |
|
|
rs1226003163 CA365501224 |
619 | Q>R | No |
ClinGen gnomAD |
|
|
rs776507371 CA147142290 |
620 | G>A | No |
ClinGen Ensembl |
|
|
CA365501249 rs1212123858 |
621 | A>V | No |
ClinGen gnomAD |
|
|
CA365501270 rs1240695876 |
623 | M>V | No |
ClinGen gnomAD |
|
|
rs1468312046 CA365501280 |
624 | D>N | No |
ClinGen gnomAD |
|
|
CA365501350 rs1392185986 |
628 | E>V | No |
ClinGen gnomAD |
|
|
rs756914599 CA3987040 |
630 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748852767 CA3987039 |
630 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3987041 rs201895596 |
631 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs973630356 CA147142316 |
633 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3987043 rs759699535 |
634 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3987042 rs745586666 |
634 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA365501418 rs1438350012 |
635 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3987044 rs375018890 |
636 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365501448 rs1583471212 |
639 | V>G | No |
ClinGen Ensembl |
|
|
rs748575855 CA3987045 |
639 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770352602 CA3987046 |
640 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3987047 rs773103791 |
641 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292878273 CA365501454 |
641 | I>V | No |
ClinGen gnomAD |
|
|
rs758169163 CA3987060 |
644 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365501791 rs1259116065 |
645 | L>F | No |
ClinGen gnomAD |
|
|
rs1334851533 CA365501802 |
646 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1484293301 CA365501868 |
652 | S>G | No |
ClinGen gnomAD |
|
|
rs1188682275 CA365501869 |
652 | S>N | No |
ClinGen gnomAD |
|
|
rs373994504 CA3987061 |
652 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147142838 rs145818990 |
654 | T>N | No |
ClinGen ESP |
|
|
CA147142846 rs145818990 |
654 | T>S | No |
ClinGen ESP |
|
|
CA365501887 rs1235404801 |
655 | P>L | No |
ClinGen TOPMed |
|
|
rs748556190 CA3987062 |
655 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770128985 CA3987063 |
656 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3987065 rs749849935 |
657 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3987064 rs773762820 |
657 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3987066 rs770974855 |
662 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3987067 rs774453527 |
668 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA147142885 rs913107676 |
669 | K>Q | No |
ClinGen TOPMed |
|
|
rs759713686 CA3987068 |
672 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA147142891 rs945842481 |
673 | T>I | No |
ClinGen gnomAD |
|
|
CA365502018 rs1374515802 |
675 | T>A | No |
ClinGen gnomAD |
|
|
rs1223537569 CA365502027 |
676 | A>V | No |
ClinGen gnomAD |
|
|
rs1305156496 CA365502029 |
677 | A>T | No |
ClinGen gnomAD |
|
|
CA3987069 rs201034133 |
678 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775089995 CA3987070 |
679 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA365502051 rs1432744547 |
680 | Q>P | No |
ClinGen TOPMed |
|
|
CA3987072 rs376913669 |
683 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3987074 rs761893812 |
685 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182975062 CA3987073 |
685 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365502097 rs1163543350 |
687 | K>E | No |
ClinGen TOPMed |
|
|
rs1320676679 CA365502153 |
694 | A>D | No |
ClinGen gnomAD |
|
|
CA3987075 rs764814017 |
696 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA365502162 rs764814017 |
696 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3987077 rs141809767 |
697 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3987076 rs558713338 |
697 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA147142940 rs867134813 |
698 | E>D | No |
ClinGen Ensembl |
|
|
CA3987078 rs779757696 |
699 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3987118 rs773764248 |
700 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759178479 CA3987119 |
702 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3987122 rs376310829 |
713 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365493262 rs376310829 |
713 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181656211 CA3987123 |
715 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3987125 rs758871002 |
716 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206354965 CA365493311 |
717 | K>T | No |
ClinGen TOPMed |
|
|
CA3987126 rs780145211 |
718 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747085438 CA3987127 |
721 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA365493359 rs1471322745 |
721 | E>K | No |
ClinGen gnomAD |
|
|
rs781556564 CA3987129 |
722 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA365493412 rs1399152662 |
726 | V>M | No |
ClinGen gnomAD |
|
|
CA3987131 rs78649301 |
728 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773178871 CA3987132 |
729 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365493450 rs1291295161 |
729 | K>T | No |
ClinGen gnomAD |
|
|
rs1239455225 CA365493467 |
730 | E>D | No |
ClinGen gnomAD |
|
|
rs1348166481 CA365493474 |
731 | E>A | No |
ClinGen gnomAD |
|
|
CA365493469 rs1278618374 |
731 | E>K | No |
ClinGen gnomAD |
|
|
CA3987133 rs749207016 |
733 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA365493507 rs1485052111 |
734 | M>T | No |
ClinGen gnomAD |
|
|
CA3987134 rs147120340 |
734 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3987135 rs146013409 |
735 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365493541 rs1562180196 |
737 | N>S | No |
ClinGen Ensembl |
|
|
rs1562180233 CA365493580 |
740 | S>G | No |
ClinGen Ensembl |
|
|
CA365493585 rs1439941369 |
740 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1439941369 CA365493583 |
740 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3987139 rs147659124 |
741 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3987140 rs760371575 |
743 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA365493653 rs1382903943 |
746 | S>N | No |
ClinGen TOPMed |
|
| rs1317783167 | 749 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365494781 rs1238591955 |
750 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3987200 rs746237943 |
752 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746237943 CA3987199 |
752 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365495039 COSM1072946 rs1211512940 |
757 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761303393 CA3987202 |
757 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761303393 CA365495050 |
757 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211512940 CA365495025 |
757 | R>S | No |
ClinGen gnomAD |
|
|
rs776793083 CA3987204 |
759 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761899386 CA3987205 |
760 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1418215135 CA365495132 |
760 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3987206 rs765498462 |
760 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761899386 CA365495126 |
760 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs750157669 CA3987207 |
763 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs758172683 CA3987208 |
764 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA3987209 rs766206288 |
765 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA365495283 rs1375324842 |
766 | E>G | No |
ClinGen gnomAD |
|
|
rs754968024 CA3987211 |
768 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3987212 rs780531006 |
769 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365495375 rs146432117 |
770 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3987214 rs146432117 |
770 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235048293 CA365495406 |
772 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA365495437 rs772534310 |
774 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3987217 rs772534310 |
774 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3987218 rs776045538 |
775 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756190152 CA365495471 |
777 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756190152 CA147140067 |
777 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs141472152 CA3987220 |
777 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254451872 CA365495484 |
778 | P>H | No |
ClinGen gnomAD |
|
|
CA3987222 rs761962470 |
781 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138600269 CA3987223 |
781 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365495532 rs1211573689 |
782 | L>F | No |
ClinGen gnomAD |
|
|
CA365495552 rs1441885011 |
783 | L>Q | No |
ClinGen gnomAD |
|
|
rs766117625 CA3987227 |
786 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1583554728 CA365495600 |
786 | M>V | No |
ClinGen Ensembl |
|
|
rs766602453 CA3987229 |
788 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1302858850 CA365495648 |
788 | I>V | No |
ClinGen gnomAD |
|
|
CA3987231 rs752636470 |
789 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147140166 rs199865155 |
790 | Q>H | No |
ClinGen Ensembl |
|
|
rs1273550583 CA365495680 |
790 | Q>K | No |
ClinGen gnomAD |
|
|
rs760577682 CA3987250 |
791 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373968472 CA3987252 |
792 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3987251 rs763648481 |
792 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA147141400 rs112577756 |
793 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112577756 COSM272998 CA3987253 |
793 | R>G | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs374294453 CA3987254 |
793 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3987255 rs377412586 |
794 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147141407 rs768781344 |
794 | R>H | No |
ClinGen Ensembl |
|
|
CA3987256 rs755362330 |
797 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748644195 CA3987258 |
798 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365495913 rs1583558927 |
799 | V>G | No |
ClinGen Ensembl |
|
|
rs774481030 CA147141438 |
810 | T>M | No |
ClinGen Ensembl |
|
|
rs139438891 CA147141441 |
812 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1297878643 CA365496184 |
814 | G>V | No |
ClinGen TOPMed |
|
|
rs1232400446 CA365496255 |
818 | K>N | No |
ClinGen gnomAD |
|
|
CA3987264 rs759718912 |
819 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3987267 rs761022788 |
821 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3987269 COSM305403 rs753338853 |
822 | R>Q | soft_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3987268 rs764131356 |
822 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs764904015 CA3987271 |
824 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758012563 CA3987273 |
825 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753010776 CA3987275 |
828 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 828 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192663190 CA365496489 |
829 | S>G | No |
ClinGen TOPMed |
|
|
rs559928420 CA3987276 |
832 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs945305011 CA147141501 |
834 | V>I | No |
ClinGen TOPMed |
|
|
rs1337298500 CA365496612 |
836 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1278521683 CA365496629 |
837 | D>N | No |
ClinGen gnomAD |
|
|
rs200688871 CA3987279 |
838 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350905270 CA365496648 |
838 | M>V | No |
ClinGen gnomAD |
|
|
CA3987281 rs746053772 |
839 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3987280 rs371308408 |
839 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365496704 rs1307075916 |
841 | Q>K | No |
ClinGen TOPMed |
|
|
rs757784425 CA3987298 |
844 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA147144598 rs940154439 |
845 | A>T | No |
ClinGen TOPMed |
|
|
CA3987299 rs374245038 |
852 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365497665 rs1317263149 |
853 | F>L | No |
ClinGen gnomAD |
|
|
rs78383099 CA147144607 |
856 | H>N | No |
ClinGen Ensembl |
|
|
rs758586213 CA3987301 |
857 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 857 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3987305 rs776613341 |
862 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430342715 CA365497886 |
869 | S>N | No |
ClinGen TOPMed |
|
|
rs1390805520 CA365497890 |
869 | S>R | No |
ClinGen TOPMed |
|
|
CA3987308 rs1260111236 |
871 | H>R | No |
ClinGen gnomAD |
|
|
rs769627087 CA3987307 |
871 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200802693 CA3987330 |
874 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200802693 CA147145324 |
874 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770327366 CA3987331 |
879 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1322153574 CA365498169 |
880 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 880 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365498242 rs1262631202 |
883 | Y>* | No |
ClinGen gnomAD |
|
|
CA3987333 rs773873643 |
883 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260868946 CA365498346 |
888 | D>N | No |
ClinGen gnomAD |
|
|
CA147145369 rs1050397591 |
891 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 893 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776922889 CA3987336 |
893 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA365498579 rs1421745718 |
898 | G>R | No |
ClinGen gnomAD |
|
|
rs1300236722 CA365498673 |
900 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1377975566 COSM22009 CA365498674 |
900 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs770933002 CA3987356 |
901 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771626769 CA3987359 |
906 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3987358 rs745395714 |
906 | D>N | No |
ClinGen ExAC |
|
|
CA3987361 rs760412884 |
907 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1013668554 CA147145898 |
908 | D>G | No |
ClinGen TOPMed |
|
|
rs76766296 CA147145908 |
909 | L>F | No |
ClinGen Ensembl |
|
|
rs1196355266 CA365498787 |
910 | Y>N | No |
ClinGen gnomAD |
|
|
CA147145914 rs770030372 |
911 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA3987362 rs770030372 |
911 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3987364 rs763325202 |
913 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA365498837 rs1189588855 |
913 | R>Q | No |
ClinGen gnomAD |
|
|
CA365498876 rs1173067741 |
916 | S>P | No |
ClinGen gnomAD |
|
|
rs752174194 CA3987367 |
918 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA147145981 rs764734248 |
919 | T>N | No |
ClinGen Ensembl |
|
|
CA3987368 rs759687309 |
919 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 920 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767748552 CA3987371 |
921 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 923 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3987372 rs752842848 |
924 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs756383726 CA3987373 |
924 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 925 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3987375 rs763757441 |
928 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143901260 CA3987376 |
929 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433111554 CA365499092 |
930 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs935706910 CA147146031 |
932 | I>L | No |
ClinGen Ensembl |
|
|
rs1274625108 CA365499109 |
932 | I>T | No |
ClinGen gnomAD |
|
|
rs1220235234 CA365499118 |
933 | V>A | No |
ClinGen gnomAD |
|
|
CA3987378 rs778808197 |
933 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs778808197 CA365499113 |
933 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA365499132 rs1174794141 |
934 | Q>L | No |
ClinGen gnomAD |
|
|
rs199655946 CA147146033 |
937 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199655946 CA3987379 |
937 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3987381 rs779584932 |
938 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs912876555 CA147146053 |
939 | W>C | No |
ClinGen Ensembl |
|
|
CA3987382 VAR_026966 rs1567 |
942 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA147146070 rs386705611 |
942 | D>E | No |
ClinGen Ensembl |
No associated diseases with Q8NI08
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of cellular response to oxidative stress | Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to oxidative stress. |
| negative regulation of oxidative stress-induced neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death. |
| negative regulation of peptidyl-cysteine S-nitrosylation | Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-cysteine S-nitrosylation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDTKEEKKER | KQSYFARLKK | KKQAKQNAET | ASAVATRTHT | GKEDNNTVVL | EPDKCNIAVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEYMTDEKKK | RKSNQLKEIR | RTELKRYYSI | DDNQNKTHDK | KEKKMVVQKP | HGTMEYTAGN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDTLNSIALK | FNITPNKLVE | LNKLFTHTIV | PGQVLFVPDA | NSPSSTLRLS | SSSPGATVSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSSDAEYDKL | PDADLARKAL | KPIERVLSST | SEEDEPGVVK | FLKMNCRYFT | DGKGVVGGVM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IVTPNNIMFD | PHKSDPLVIE | NGCEEYGLIC | PMEEVVSIAL | YNDISHMKIK | DALPSDLPQD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LCPLYRPGEW | EDLASEKDIN | PFSKFKSINK | EKRQQNGEKI | MTSDSRPIVP | LEKSTGHTPT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KPSGSSVSEK | LKKLDSSRET | SHGSPTVTKL | SKEPSDTSSA | FESTAKENFL | GEDDDFVDLE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELSSQTGGGM | HKKDTLKECL | SLDPEERKKA | ESQINNSAVE | MQVQSALAFL | GTENDVELKG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALDLETCEKQ | DIMPEVDKQS | GSPESRVENT | LNIHEDLDKV | KLIEYYLTKN | KEGPQVSENL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QKTELSDGKS | IEPGGIDITL | SSSLSQAGDP | ITEGNKEPDK | TWVKKGEPLP | VKLNSSTEAN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VIKEALDSSL | ESTLDNSCQG | AQMDNKSEVQ | LWLLKRIQVP | IEDILPSKEE | KSKTPPMFLC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IKVGKPMRKS | FATHTAAMVQ | QYGKRRKQPE | YWFAVPRERV | DHLYTFFVQW | SPDVYGKDAK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EQGFVVVEKE | ELNMIDNFFS | EPTTKSWEII | TVEEAKRRKS | TCSYYEDEDE | EVLPVLRPHS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ALLENMHIEQ | LARRLPARVQ | GYPWRLAYST | LEHGTSLKTL | YRKSASLDSP | VLLVIKDMDN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QIFGAYATHP | FKFSDHYYGT | GETFLYTFSP | HFKVFKWSGE | NSYFINGDIS | SLELGGGGGR |
| 910 | 920 | 930 | 940 | ||
| FGLWLDADLY | HGRSNSCSTF | NNDILSKKED | FIVQDLEVWA | FD |