O95985
PR
Gene name |
TOP3B (TOP3B1) |
Protein name |
DNA topoisomerase 3-beta-1 |
Names |
DNA topoisomerase III beta-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8940 |
EC number |
5.6.2.1: Enzymes altering nucleic acid conformation |
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
3 structures for O95985
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5GVC | X-ray | 244 A | A/B | 1-612 | PDB |
| 5GVE | X-ray | 361 A | A | 1-612 | PDB |
| AF-O95985-F1 | Predicted | AlphaFoldDB |
643 variants for O95985
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs754531197 CA10126095 |
3 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10126094 rs753366316 |
3 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA410826759 rs1366226340 |
6 | M>I | No |
ClinGen gnomAD |
|
|
rs1217129084 CA410826775 |
6 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410826594 rs1601861124 |
15 | Q>H | No |
ClinGen Ensembl |
|
|
rs774405121 CA10126088 |
17 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10126089 rs774405121 |
17 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1409753520 CA410826523 |
20 | I>L | No |
ClinGen TOPMed |
|
|
CA410840156 rs1449859414 |
27 | S>C | No |
ClinGen gnomAD |
|
|
CA410840154 rs1449859414 |
27 | S>F | No |
ClinGen gnomAD |
|
|
CA10126064 rs772310124 |
28 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA410840117 rs1324252720 |
30 | K>N | No |
ClinGen TOPMed |
|
|
rs772501950 CA10126063 |
30 | K>R | No |
ClinGen ExAC |
|
|
rs769186470 CA10126060 |
34 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779608259 CA10126058 |
35 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769347499 CA10126057 |
37 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10126055 COSM1032511 rs780826549 |
40 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1429167330 CA410839981 |
42 | T>A | No |
ClinGen TOPMed |
|
|
rs1488517021 CA410839975 |
42 | T>S | No |
ClinGen gnomAD |
|
|
rs1601857165 CA410839961 |
44 | T>P | No |
ClinGen Ensembl |
|
|
rs979092144 CA322370389 |
45 | F>S | No |
ClinGen Ensembl |
|
|
rs751390489 CA10126052 |
47 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179018819 CA410839923 |
47 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs944417207 CA322370384 |
49 | P>S | No |
ClinGen TOPMed |
|
|
CA322370380 rs911545189 |
50 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777476655 CA10126051 |
51 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10126050 rs547739259 |
51 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410839876 rs547739259 |
51 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752636385 CA10126049 |
53 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601857012 CA410839838 |
54 | M>T | No |
ClinGen Ensembl |
|
|
rs1218832303 CA410839820 |
55 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA322370361 rs762252028 |
56 | S>A | No |
ClinGen TOPMed |
|
|
rs114880937 CA10126045 |
60 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410839756 rs1350908726 |
61 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 62 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295955673 CA410839705 |
65 | D>H | No |
ClinGen gnomAD |
|
|
CA410839307 rs765755336 |
70 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10126020 rs760083473 |
71 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1313202876 CA410839288 |
73 | W>* | No |
ClinGen gnomAD |
|
|
CA10126019 rs776086765 |
73 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA322369697 rs569527298 |
74 | D>N | No |
ClinGen 1000Genomes |
|
|
rs746616308 CA10126017 |
77 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424357710 CA410839261 |
77 | D>H | No |
ClinGen gnomAD |
|
|
rs372561208 CA410839249 |
79 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10126015 rs372561208 |
79 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747981638 CA10126014 |
81 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1166050975 CA410839231 |
82 | F>L | No |
ClinGen TOPMed |
|
|
rs1380888768 CA410839206 |
85 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10126012 rs754936810 |
87 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA10126010 rs781405367 |
89 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10126009 rs757293443 |
91 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749967993 CA10126008 |
92 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs150240016 CA322369663 |
94 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA322369660 rs748760870 |
95 | K>N | No |
ClinGen Ensembl |
|
|
rs1229011042 CA410839134 |
96 | L>Q | No |
ClinGen TOPMed |
|
|
rs1037846879 CA322369658 |
98 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10125986 rs201486190 |
104 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA410839067 rs1264946782 |
104 | V>L | No |
ClinGen gnomAD |
|
|
rs752982832 CA10125985 |
105 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA410839040 rs1218215545 |
108 | G>D | No |
ClinGen gnomAD |
|
|
rs754302712 CA10125982 |
110 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1401770351 CA410839025 |
110 | D>V | No |
ClinGen gnomAD |
|
|
CA410839010 rs1457932063 |
112 | I>T | No |
ClinGen gnomAD |
|
|
rs767125423 CA10125978 |
113 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538979971 CA10125977 |
117 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1479752242 CA410838959 |
120 | K>E | No |
ClinGen gnomAD |
|
|
rs770952774 CA10125973 |
122 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769596237 CA10125971 |
125 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769596237 CA410838923 |
125 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745856217 CA10125970 |
127 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10125968 rs772154327 |
128 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125969 rs373549523 |
128 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410838842 rs1369223639 |
135 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 135 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774264750 CA322368682 |
136 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1327317 CA10125940 rs774264750 COSM1327316 |
136 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774264750 CA10125941 |
136 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410838831 rs1260739495 CA410838832 |
137 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1425378061 CA410838837 |
137 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10125939 rs757981482 |
141 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310964562 CA410838800 |
142 | G>S | No |
ClinGen TOPMed |
|
|
rs1488574727 CA410838792 |
143 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM353000 COSM353001 rs578029038 CA10125937 |
144 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
COSM166847 rs776383775 COSM166846 CA10125935 |
147 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs200642107 CA322368673 |
149 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs991245535 CA322368674 |
149 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410838742 rs1277957008 |
151 | R>T | No |
ClinGen gnomAD |
|
|
CA410838713 rs1362945248 |
155 | I>N | No |
ClinGen gnomAD |
|
|
CA410838706 rs760649689 |
156 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125933 rs760649689 COSM1230075 COSM1230076 |
156 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768785125 CA10125931 |
157 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA410838703 rs1165269889 |
157 | D>H | No |
ClinGen gnomAD |
|
|
CA410838688 rs147551830 |
159 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs749416728 CA10125930 |
159 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147551830 CA322368653 |
159 | D>V | No |
ClinGen ESP TOPMed |
|
|
rs1032695380 CA322368649 |
162 | N>S | No |
ClinGen Ensembl |
|
|
CA410838661 rs1421297146 |
163 | A>S | No |
ClinGen gnomAD |
|
|
CA410838644 rs1259999967 |
165 | A>G | No |
ClinGen TOPMed |
|
|
rs1192594696 CA410838648 |
165 | A>T | No |
ClinGen gnomAD |
|
|
CA410838635 rs1243736852 |
166 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10125929 rs775782800 |
167 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601844674 CA410838627 |
168 | G>D | No |
ClinGen Ensembl |
|
|
rs372442342 CA10125927 |
169 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315606947 CA410838591 |
173 | N>S | No |
ClinGen gnomAD |
|
|
CA10125926 rs546455586 |
174 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA322368639 rs546455586 |
174 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410838579 rs1342974568 |
175 | A>T | No |
ClinGen gnomAD |
|
|
CA410838571 rs1436363355 |
176 | L>P | No |
ClinGen gnomAD |
|
|
rs536152263 CA10125924 |
178 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10125923 rs536152263 |
178 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410838558 rs1314668384 |
179 | D>H | No |
ClinGen TOPMed |
|
|
rs1352519452 CA410838546 |
180 | A>V | No |
ClinGen TOPMed |
|
|
CA410838543 rs1299326539 |
181 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA410838542 rs757937448 |
181 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757937448 CA10125922 |
181 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322368635 rs1019939316 |
183 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 184 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752254225 CA10125921 |
185 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410838507 rs1301982615 |
187 | R>* | No |
ClinGen TOPMed |
|
|
rs754636552 CA10125919 |
187 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125917 rs766232851 |
189 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283150260 CA410838479 |
191 | A>V | No |
ClinGen TOPMed |
|
|
CA10125915 rs773149733 |
193 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10125892 rs761701278 |
197 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10125891 rs752788137 |
199 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA638583821 rs1569151307 |
204 | Y>* | No |
ClinGen Ensembl |
|
|
rs1179265688 CA410838375 |
204 | Y>F | No |
ClinGen TOPMed |
|
|
COSM337711 rs759819163 CA10125889 COSM337710 |
205 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10125888 rs777005462 |
206 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761145575 CA10125886 |
209 | S>G | No |
ClinGen ExAC |
|
|
rs1359418372 CA410838330 |
211 | L>F | No |
ClinGen gnomAD |
|
|
CA410838315 rs1411127332 |
213 | S>C | No |
ClinGen gnomAD |
|
|
rs374293467 CA10125882 |
216 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410838297 rs374293467 |
216 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322368094 rs867383675 |
216 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10125879 rs748877524 |
218 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA10125876 rs750194502 |
220 | P>T | No |
ClinGen ExAC |
|
|
rs1217977870 CA410838265 |
221 | T>I | No |
ClinGen gnomAD |
|
|
CA10125875 rs780886742 |
221 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1229085887 CA410838225 |
227 | E>D | No |
ClinGen gnomAD |
|
|
rs1355917638 CA410838218 |
228 | R>S | No |
ClinGen gnomAD |
|
|
CA410838212 rs1294899244 |
229 | H>R | No |
ClinGen gnomAD |
|
|
rs1398077231 CA410838208 |
230 | D>N | No |
ClinGen gnomAD |
|
|
rs759693292 CA10125871 |
232 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA322368064 rs1012122136 |
233 | Q>H | No |
ClinGen TOPMed |
|
|
rs1454929487 CA410838174 |
234 | S>F | No |
ClinGen gnomAD |
|
|
rs979466770 CA322368062 |
235 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 236 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376221366 CA410838157 |
237 | P>A | No |
ClinGen TOPMed |
|
|
rs201232519 CA10125870 |
237 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201232519 CA410838155 |
237 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191877533 CA410838127 |
241 | W>* | No |
ClinGen gnomAD |
|
|
rs1420475153 CA410838130 |
241 | W>R | No |
ClinGen gnomAD |
|
|
CA322368056 rs149696779 |
242 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1188773928 CA410838109 |
244 | Q>P | No |
ClinGen gnomAD |
|
|
CA322368051 rs371012381 |
246 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs773623790 CA10125867 |
246 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA410838075 rs1334615219 |
247 | V>G | No |
ClinGen gnomAD |
|
|
CA410838073 rs1387638123 |
248 | N>D | No |
ClinGen TOPMed |
|
|
CA10125852 rs753938980 |
248 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397747862 CA410838039 |
252 | D>E | No |
ClinGen gnomAD |
|
|
CA10125851 rs750714103 |
252 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756393355 CA410838024 |
255 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756393355 CA10125850 |
255 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410838018 rs1397392993 |
256 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs946871938 CA322367668 |
257 | L>S | No |
ClinGen TOPMed |
|
|
rs1239494265 CA410838007 |
258 | D>H | No |
ClinGen Ensembl |
|
|
CA410837997 rs1455674983 |
259 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750626916 CA10125847 |
261 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs767857998 CA10125846 |
263 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125845 rs762120111 |
264 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1199502626 CA410837967 |
264 | V>L | No |
ClinGen TOPMed |
|
|
CA10125843 rs764558289 |
266 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10125844 rs548835011 |
266 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774974292 CA10125841 COSM3693961 COSM3693962 |
267 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs146485968 CA10125842 |
267 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745465196 CA410837931 |
269 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776153132 CA10125838 |
270 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448234576 CA410837884 |
276 | M>V | No |
ClinGen gnomAD |
|
|
CA410837871 rs1179862646 |
277 | T>I | No |
ClinGen TOPMed |
|
|
CA410837869 rs1309633506 |
278 | K>E | No |
ClinGen gnomAD |
|
|
rs746758735 CA10125836 |
278 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757428562 CA322367633 |
280 | E>K | No |
ClinGen gnomAD |
|
|
CA322367630 rs1011145958 |
281 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA410837846 rs1358706421 |
281 | K>N | No |
ClinGen gnomAD |
|
|
rs1011145958 CA410837851 |
281 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 283 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775988838 CA10125823 |
285 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10125822 rs764658626 |
287 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA322366613 rs751702242 |
288 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 288 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210445439 CA410837787 |
289 | S>G | No |
ClinGen gnomAD |
|
|
CA410837779 rs1410256486 |
290 | R>G | No |
ClinGen TOPMed |
|
|
rs144126907 CA10125821 |
290 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs559328941 CA10125820 |
293 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263209978 CA410837755 |
293 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746743243 CA10125818 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410837744 rs1276892117 |
295 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA410837735 rs1235481520 |
296 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773129827 CA10125817 |
298 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1432095980 CA410837714 |
299 | L>R | No |
ClinGen gnomAD |
|
|
CA410837705 rs1321598077 |
301 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410837696 rs1236067002 |
302 | N>I | No |
ClinGen TOPMed |
|
|
CA410837686 rs1386437767 |
304 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1339324506 CA410837681 |
305 | E>K | No |
ClinGen TOPMed |
|
|
CA10125814 rs779028112 |
306 | M>I | No |
ClinGen ExAC |
|
|
rs924728652 CA322366553 |
307 | L>P | No |
ClinGen gnomAD |
|
|
rs769874024 CA10125813 COSM212284 COSM212285 |
308 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410837659 rs1421182674 |
308 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410837646 rs1475660865 |
310 | A>G | No |
ClinGen gnomAD |
|
|
rs114194061 CA10125812 |
312 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10125811 rs114194061 |
312 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410837628 rs1196065609 |
313 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410837605 rs1341694900 |
315 | G>A | No |
ClinGen TOPMed |
|
|
CA10125789 rs550674711 |
316 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410837599 rs1238260507 |
316 | M>T | No |
ClinGen gnomAD |
|
|
rs1569146986 CA410837591 |
317 | G>A | No |
ClinGen Ensembl |
|
|
CA410837586 rs1442709781 |
318 | P>R | No |
ClinGen gnomAD |
|
|
CA10125788 rs758713742 |
318 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs949988225 CA322365898 |
319 | Q>R | No |
ClinGen Ensembl |
|
|
CA10125785 rs755428484 |
321 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754384547 CA10125784 |
322 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA322365883 rs965097854 |
323 | Q>* | No |
ClinGen TOPMed |
|
|
CA10125783 rs116017020 |
324 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116017020 CA410837545 |
324 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA322365850 rs372226983 |
326 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA410837530 rs1177399728 |
327 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10125781 rs750050023 |
327 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1385676778 CA410837519 |
329 | Y>D | No |
ClinGen TOPMed |
|
|
rs1439279941 CA410837510 |
330 | T>K | No |
ClinGen TOPMed |
|
|
rs1439279941 CA410837508 |
330 | T>M | No |
ClinGen TOPMed |
|
|
CA10125777 rs768550763 |
331 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125778 rs774280847 |
331 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA410837504 rs774280847 |
331 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA410837496 rs1214487441 |
332 | G>D | No |
ClinGen gnomAD |
|
|
CA410837467 rs1601826443 |
336 | Y>S | No |
ClinGen Ensembl |
|
|
rs1225669251 CA410837460 |
337 | P>L | No |
ClinGen gnomAD |
|
|
rs866256456 CA322365819 |
337 | P>S | No |
ClinGen Ensembl |
|
|
rs754885580 CA322365811 |
338 | R>W | No |
ClinGen TOPMed |
|
|
rs1601826344 CA410837439 |
341 | T>P | No |
ClinGen Ensembl |
|
|
rs1282144407 CA410837425 |
343 | H>R | No |
ClinGen gnomAD |
|
|
rs770875139 CA10125774 |
344 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA10125773 rs148740221 |
346 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125772 rs148740221 |
346 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186661692 CA410837401 |
347 | N>D | No |
ClinGen TOPMed |
|
|
CA10125771 rs772277144 |
347 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1344072856 CA410837379 |
350 | L>M | No |
ClinGen gnomAD |
|
|
rs1344072856 CA410837378 |
350 | L>V | No |
ClinGen gnomAD |
|
|
CA410837369 rs1159460281 |
351 | K>R | No |
ClinGen gnomAD |
|
|
rs144269762 CA10125769 |
353 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144269762 CA10125768 |
353 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322365759 rs149595134 |
355 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125766 rs149595134 |
355 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181255589 CA10125767 |
355 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410837341 rs1192100584 |
357 | Q>* | No |
ClinGen gnomAD |
|
|
rs756737126 CA10125765 |
357 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA410837317 rs1601826048 |
360 | H>P | No |
ClinGen Ensembl |
|
|
rs1163308051 CA410837313 |
360 | H>Q | No |
ClinGen TOPMed |
|
|
rs1242771043 CA410837302 |
362 | Y>C | No |
ClinGen gnomAD |
|
|
CA322365750 rs868596241 |
363 | W>* | No |
ClinGen gnomAD |
|
|
CA410837296 rs1218216481 |
363 | W>G | No |
ClinGen gnomAD |
|
|
CA410837298 rs1218216481 |
363 | W>R | No |
ClinGen gnomAD |
|
|
CA410837290 rs1392327717 |
364 | A>T | No |
ClinGen TOPMed |
|
|
VAR_052591 rs9610728 CA10125763 |
365 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA410837274 rs1335202500 |
366 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410837272 rs1335202500 |
366 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10125743 rs553263730 |
368 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410837245 rs756829071 |
369 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756829071 CA10125741 |
369 | R>Q | Variant assessed as Somatic; 4.887e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199868661 CA10125742 |
369 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125740 rs751131064 |
370 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10125739 rs763828484 |
371 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA10125738 rs758034883 |
372 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752506133 CA10125737 |
373 | E>K | No |
ClinGen ExAC |
|
|
rs1455696490 CA410837202 |
376 | N>S | No |
ClinGen gnomAD |
|
|
rs1455696490 CA410837203 |
376 | N>T | No |
ClinGen gnomAD |
|
|
rs765074476 COSM1032504 COSM1032505 CA10125736 |
377 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10125734 rs114729996 |
377 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114729996 CA10125735 |
377 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767547451 CA10125733 |
378 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410837192 rs767547451 |
378 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768895949 CA10125730 |
379 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143308485 CA10125731 RCV000905663 |
379 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10125729 rs75602167 |
382 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410837172 rs1301979149 |
382 | H>Y | No |
ClinGen gnomAD |
|
|
rs1048397977 CA322365558 |
383 | D>N | No |
ClinGen TOPMed |
|
|
CA10125727 rs150292700 |
384 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199633721 CA10125725 |
385 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1040908769 CA322365550 |
390 | I>V | No |
ClinGen TOPMed |
|
|
CA322365547 rs986018897 |
391 | T>I | No |
ClinGen TOPMed |
|
|
rs1601824889 CA410837114 |
391 | T>P | No |
ClinGen Ensembl |
|
|
rs375437316 CA322365542 |
393 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 398 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10125721 rs758065808 |
398 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125719 rs143054499 |
400 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1453360365 CA410837023 |
403 | G>C | No |
ClinGen gnomAD |
|
| rs1254041832 | 403 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572311772 CA410837012 |
404 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10125668 rs773834856 |
405 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125667 rs201434535 |
405 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322364786 rs756298889 |
407 | R>Q | No |
ClinGen gnomAD |
|
|
rs149060942 CA10125665 |
407 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125663 rs745630821 |
409 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10125661 rs757138179 |
413 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA410836959 rs757138179 |
413 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10125660 rs779077520 |
414 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs754062996 CA10125657 |
415 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10125658 rs755139100 |
415 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410836936 rs1171144438 |
416 | F>L | No |
ClinGen gnomAD |
|
|
CA410836933 rs1203776050 |
417 | I>V | No |
ClinGen TOPMed |
|
|
CA10125655 rs541903697 |
418 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1641511 rs369682746 CA10125653 COSM1641512 |
419 | T>M | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752061325 CA10125651 |
421 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs763558844 CA10125650 |
422 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397083752 CA410836886 |
424 | C>Y | No |
ClinGen TOPMed |
|
|
CA410836875 rs1278317161 |
425 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410836864 rs1303241006 |
427 | L>V | No |
ClinGen gnomAD |
|
|
rs1463591011 CA410836858 |
428 | Q>* | No |
ClinGen TOPMed |
|
|
CA322364717 rs962327355 |
430 | T>A | No |
ClinGen Ensembl |
|
|
CA10125647 rs769303168 |
431 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs377043892 CA10125645 |
433 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA322364696 rs537220050 |
433 | F>S | No |
ClinGen 1000Genomes |
|
|
CA410836819 rs1291652449 |
434 | R>K | No |
ClinGen TOPMed |
|
|
rs185394680 CA10125643 |
435 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1442863468 CA410836810 |
435 | I>T | No |
ClinGen gnomAD |
|
|
rs1305407787 CA410836800 |
437 | P>S | No |
ClinGen TOPMed |
|
|
rs557851011 CA10125641 |
438 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114712273 CA10125640 |
439 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410836773 rs1360027544 |
441 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1264154430 CA410836765 |
442 | C>F | No |
ClinGen TOPMed |
|
|
CA10125637 rs565686024 |
444 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10125636 rs781341343 |
445 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752016261 CA10125634 |
447 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA410836731 rs1432873072 |
448 | L>F | No |
ClinGen gnomAD |
|
|
rs1239210863 CA410836722 |
449 | S>L | No |
ClinGen gnomAD |
|
|
rs753337546 CA10125609 CA410836677 |
454 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1285456079 CA410836673 |
455 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410836666 rs1486009597 |
456 | M>I | No |
ClinGen TOPMed |
|
|
rs368473134 CA10125606 |
456 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125607 rs766097711 |
456 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485030713 CA410836658 |
457 | P>L | No |
ClinGen gnomAD |
|
|
CA410836663 rs1569144509 |
457 | P>T | No |
ClinGen Ensembl |
|
|
rs773125567 CA10125605 |
461 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410836620 rs761584844 |
463 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10125602 rs774372586 |
464 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA410836612 CA10125601 rs527779793 |
464 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs912661822 CA322364579 |
464 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs745942073 CA10125600 |
465 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125599 rs776734531 |
468 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747291093 CA10125597 |
470 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
CA10125595 rs146766833 |
472 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10125596 rs116628543 |
472 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs531634127 CA10125594 |
473 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10125592 rs755477773 |
475 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779452740 CA10125593 |
475 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753381362 CA10125591 |
476 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10125590 rs766042885 |
477 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA322364507 rs967946882 |
480 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10125587 rs767376420 |
481 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322364499 rs373767282 |
483 | M>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10125585 rs774066842 |
484 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10125584 rs115845788 |
488 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA322364487 rs990654839 |
490 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410836443 rs1205047844 |
491 | P>L | No |
ClinGen TOPMed |
|
|
rs776683013 CA10125582 |
491 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410836447 rs776683013 |
491 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs139678669 CA10125580 |
492 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1476890868 CA410836431 |
493 | Y>C | No |
ClinGen TOPMed |
|
|
CA10125579 rs773454859 |
495 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410836414 rs1455343557 |
496 | E>A | No |
ClinGen TOPMed |
|
|
COSM726219 rs779209877 COSM726220 CA10125576 |
498 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs142849815 CA10125574 |
501 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125573 rs142849815 |
501 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125570 rs780879203 |
502 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA410836368 rs1379173617 |
503 | M>I | No |
ClinGen gnomAD |
|
|
rs200839348 CA10125568 |
506 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs373131871 | 508 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10125566 rs762892315 |
509 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10125512 rs771698621 |
510 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1307289581 CA410836269 |
516 | V>A | No |
ClinGen gnomAD |
|
|
rs1333944561 CA410836273 |
516 | V>M | No |
ClinGen gnomAD |
|
|
CA410836239 rs1409920905 |
520 | N>S | No |
ClinGen gnomAD |
|
|
CA410836219 rs1357963335 |
523 | Q>* | No |
ClinGen TOPMed |
|
|
rs754795501 CA10125508 |
524 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA410836201 rs1413544027 |
525 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA410836203 rs1601813681 |
525 | N>T | No |
ClinGen Ensembl |
|
|
CA10125507 rs749198423 |
526 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10125506 rs147509770 |
528 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139257971 CA10125503 CA410836160 |
532 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410836153 rs1268936229 |
533 | R>C | No |
ClinGen gnomAD |
|
|
CA10125502 rs758638659 |
533 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752975410 CA10125501 |
534 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410836149 rs1279109489 |
534 | R>W | No |
ClinGen gnomAD |
|
|
CA410836136 rs1315158680 |
536 | K>R | No |
ClinGen gnomAD |
|
|
rs765658019 CA10125500 |
538 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420361188 CA410836111 |
540 | L>F | No |
ClinGen TOPMed |
|
|
rs1420361188 CA410836113 |
540 | L>I | No |
ClinGen TOPMed |
|
|
CA10125499 rs144375317 |
541 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777104383 CA10125498 |
542 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200080403 CA10125496 |
543 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200080403 CA322363065 |
543 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415830174 CA410836071 |
547 | G>D | No |
ClinGen gnomAD |
|
|
rs774010410 CA10125492 |
547 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415830174 CA410836069 |
547 | G>V | No |
ClinGen gnomAD |
|
|
CA410836067 rs1181318243 |
548 | Y>N | No |
ClinGen gnomAD |
|
|
CA10125491 rs768343010 |
549 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs536221449 CA10125490 |
551 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410836020 rs1397509759 |
553 | A>T | No |
ClinGen gnomAD |
|
|
rs377631933 CA10125466 |
554 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410835983 rs1170654392 |
559 | T>A | No |
ClinGen gnomAD |
|
|
rs1170654392 CA410835984 |
559 | T>P | No |
ClinGen gnomAD |
|
|
rs1451103267 CA410835969 COSM1032499 |
561 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs755097365 CA10125464 |
561 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754092696 CA10125463 |
563 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1480981272 CA410835958 |
563 | A>T | No |
ClinGen TOPMed |
|
|
rs780240843 CA10125462 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs149641188 CA10125461 |
567 | Q>P | No |
ClinGen ESP ExAC |
|
|
CA322362739 rs772249700 |
572 | A>S | No |
ClinGen Ensembl |
|
|
CA322362735 rs1007440541 |
573 | Q>* | No |
ClinGen TOPMed |
|
|
CA410835894 rs1007440541 |
573 | Q>E | No |
ClinGen TOPMed |
|
|
CA410835892 rs1230161576 |
573 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1292896254 CA410835879 |
575 | K>T | No |
ClinGen TOPMed |
|
|
CA10125454 rs201487411 |
577 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410835851 rs1275992362 |
579 | R>C | No |
ClinGen TOPMed |
|
|
COSM3800058 COSM3800059 rs138357708 CA10125453 |
579 | R>H | urinary_tract Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138357708 CA410835850 |
579 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 579 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410835842 rs200455698 |
580 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029657047 CA322362710 |
581 | V>L | No |
ClinGen TOPMed |
|
|
CA10125451 rs761519165 |
583 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949722514 CA322362697 |
588 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774228160 CA10125448 |
590 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA410835755 rs1433510428 |
594 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372970833 CA10125445 |
598 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322362682 rs916930682 |
599 | S>C | No |
ClinGen Ensembl |
|
|
rs1477687137 CA410835702 |
601 | A>G | No |
ClinGen TOPMed |
|
|
CA410835699 rs1482483281 |
602 | G>R | No |
ClinGen gnomAD |
|
|
rs372155085 CA10125427 |
604 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150098008 CA10125428 |
604 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 604 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569140118 CA410835667 |
605 | E>Q | No |
ClinGen Ensembl |
|
|
CA410835630 rs1601809626 |
609 | V>G | No |
ClinGen Ensembl |
|
|
CA410835627 rs1601809591 |
610 | S>A | No |
ClinGen Ensembl |
|
|
CA410835610 rs1318264074 |
612 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410835595 rs1389319786 |
615 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1391146614 CA410835596 |
615 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1391146614 CA410835598 |
615 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410835593 rs1389319786 |
615 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1426955304 CA410835589 |
616 | A>D | No |
ClinGen gnomAD |
|
|
CA322359870 rs530461627 |
617 | T>I | No |
ClinGen Ensembl |
|
|
CA410835575 rs1455939251 |
619 | K>Q | No |
ClinGen gnomAD |
|
|
rs778324699 CA10125422 |
619 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA410835551 rs1246614721 |
622 | S>L | No |
ClinGen gnomAD |
|
|
rs376446617 CA10125420 |
623 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1465588241 CA410835546 |
623 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10125418 rs754621026 |
627 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410835514 rs1201262349 |
628 | H>Y | No |
ClinGen gnomAD |
|
|
CA410835506 rs1486667312 |
629 | R>C | No |
ClinGen gnomAD |
|
|
rs766225754 CA10125416 |
631 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA410835477 rs1278325623 |
633 | Y>H | No |
ClinGen gnomAD |
|
|
CA10125390 rs751484981 |
639 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10125389 rs189944999 |
640 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549538254 CA10125388 |
640 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771138254 CA10125386 |
644 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA410835391 rs771138254 |
644 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs760864773 CA10125385 |
645 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA322359233 rs978941212 |
645 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10125383 rs544938922 |
647 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348142976 CA410835363 |
648 | E>K | No |
ClinGen gnomAD |
|
|
rs145437207 CA322359218 |
651 | T>M | No |
ClinGen ESP gnomAD |
|
|
CA10125378 rs748802931 |
654 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs748802931 CA10125379 |
654 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs755730877 CA10125376 |
656 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750045514 CA10125375 |
660 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10125374 rs781003629 |
662 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125372 rs751408259 |
665 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1345956659 CA410835247 |
665 | R>H | No |
ClinGen TOPMed |
|
|
CA410835245 rs1170623674 |
666 | C>R | No |
ClinGen Ensembl |
|
|
CA10125371 rs763991733 |
668 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs758397988 CA410835228 |
669 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs758397988 CA10125370 |
669 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753902793 CA10125369 |
670 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187018563 CA410835221 |
670 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 671 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760886348 CA10125367 |
672 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205531803 CA410835195 |
673 | L>R | No |
ClinGen gnomAD |
|
|
CA10125366 rs773327025 |
674 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762052661 CA10125364 |
675 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374794758 CA410835171 |
677 | S>L | No |
ClinGen gnomAD |
|
|
CA10125363 rs774922897 |
681 | R>W | Variant assessed as Somatic; 9.248e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10125362 rs769269069 |
682 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10125360 rs749822944 |
684 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA322359105 rs543519645 |
686 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1388575062 CA410835118 |
686 | P>S | No |
ClinGen gnomAD |
|
|
rs1411709887 CA410835106 |
688 | C>S | No |
ClinGen gnomAD |
|
|
rs769215648 CA10125358 |
689 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745477678 CA10125357 |
690 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA410835070 rs1240578773 |
693 | N>S | No |
ClinGen TOPMed |
|
|
rs142196057 CA10125354 |
698 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142196057 CA322359059 |
698 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10125353 rs777603080 |
698 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216404165 CA410835025 |
700 | M>K | No |
ClinGen gnomAD |
|
|
rs758275021 CA10125352 |
702 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA410834985 rs1347239641 |
704 | M>V | No |
ClinGen gnomAD |
|
|
CA410834974 rs1316501793 |
705 | G>D | No |
ClinGen gnomAD |
|
|
rs1400131344 CA410834970 |
706 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1167728386 CA410834957 |
707 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA410834948 rs1197367856 |
708 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1375291790 CA410834951 |
708 | E>G | No |
ClinGen gnomAD |
|
|
CA410834955 rs1475917379 |
708 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1175391563 CA410834947 |
709 | C>R | No |
ClinGen gnomAD |
|
|
rs1480184663 CA410834934 |
710 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1394230130 CA410834929 |
711 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1394230130 CA410834930 |
711 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410834918 rs1601803981 |
713 | S>P | No |
ClinGen Ensembl |
|
|
CA322358232 rs887274171 |
714 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA410834885 rs1282426560 |
717 | S>L | No |
ClinGen TOPMed |
|
|
CA410834861 rs1339748873 |
721 | L>V | No |
ClinGen gnomAD |
|
|
rs1253072808 CA410834853 |
722 | G>A | No |
ClinGen gnomAD |
|
|
rs1601803819 CA410834851 |
723 | I>V | No |
ClinGen Ensembl |
|
|
rs1344370893 CA410834843 |
724 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410834832 rs1283334274 |
725 | Q>H | No |
ClinGen gnomAD |
|
|
CA410834824 rs1485686451 |
726 | C>* | No |
ClinGen gnomAD |
|
|
CA410834829 rs1406204344 |
726 | C>R | No |
ClinGen gnomAD |
|
|
rs1348263624 CA410834821 |
727 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410834822 rs1348263624 |
727 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410834808 rs1327695873 |
729 | C>S | No |
ClinGen gnomAD |
|
|
CA410834796 rs1346411641 |
730 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1399067023 CA410834798 |
730 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA410834781 rs1469710990 |
732 | G>E | No |
ClinGen gnomAD |
|
|
CA410834778 rs1430565625 |
733 | V>M | No |
ClinGen gnomAD |
|
|
CA10125296 rs570899311 |
736 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410834741 rs1334094585 |
739 | T>A | No |
ClinGen TOPMed |
|
|
CA322358215 rs1047648936 |
739 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410834742 rs1334094585 |
739 | T>P | No |
ClinGen TOPMed |
|
|
CA410834733 rs1252374529 |
740 | S>L | No |
ClinGen gnomAD |
|
|
CA410834737 rs1438238548 |
740 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA410834715 rs1322772171 |
743 | K>N | No |
ClinGen gnomAD |
|
|
rs773950475 CA10125295 |
743 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA410834695 rs1263628655 |
746 | V>M | No |
ClinGen gnomAD |
|
|
rs768526272 CA10125294 |
747 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA410834663 rs1278650612 |
750 | K>N | No |
ClinGen gnomAD |
|
|
rs1442456085 CA410834658 |
751 | C>Y | No |
ClinGen gnomAD |
|
|
rs1337945022 CA410834649 |
752 | N>S | No |
ClinGen gnomAD |
|
|
CA410834644 rs1452316675 |
753 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs527642084 CA322358179 |
754 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA322358193 rs931425180 |
754 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410834638 rs931425180 |
754 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1250857443 CA410834630 |
755 | A>V | No |
ClinGen TOPMed |
|
|
rs1314902487 CA410834626 |
756 | H>P | No |
ClinGen gnomAD |
|
|
CA10125290 rs561936553 |
759 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181546932 CA410834590 |
761 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410834581 rs1601803200 |
762 | H>P | No |
ClinGen Ensembl |
|
|
rs1460659398 CA410834582 |
762 | H>Y | No |
ClinGen gnomAD |
|
|
CA10125288 rs758636569 |
763 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA410834574 rs1205471944 |
763 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1444830762 CA410834570 |
764 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1444830762 CA410834571 |
764 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410834563 rs1343944327 |
765 | R>L | No |
ClinGen TOPMed |
|
|
CA410834561 rs1343944327 |
765 | R>Q | No |
ClinGen TOPMed |
|
|
rs1223815244 CA410834564 |
765 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410834558 rs1352429318 |
766 | V>L | No |
ClinGen gnomAD |
|
|
rs140264686 CA10125286 |
767 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834547 rs1383986486 |
768 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766864823 CA10125283 |
769 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834540 rs1485059460 |
769 | D>G | No |
ClinGen gnomAD |
|
|
rs754207182 CA10125284 |
769 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834523 rs1319096889 |
772 | S>G | No |
ClinGen gnomAD |
|
|
CA10125282 rs756668899 |
772 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA410834516 rs1411914532 |
773 | V>I | No |
ClinGen gnomAD |
|
|
rs767014290 CA10125280 |
777 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834470 rs1241403226 |
780 | D>N | No |
ClinGen gnomAD |
|
|
rs1448158197 CA410834439 |
784 | N>D | No |
ClinGen gnomAD |
|
|
rs113448601 CA322358032 |
786 | A>T | No |
ClinGen Ensembl |
|
|
CA322358029 rs111305074 |
786 | A>V | No |
ClinGen Ensembl |
|
|
CA410834393 rs1474117420 |
791 | P>A | No |
ClinGen TOPMed |
|
|
CA10125276 rs762779671 |
791 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834390 rs762779671 |
791 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773363319 CA10125273 |
792 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125272 rs773363319 |
792 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149995926 CA10125270 |
793 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322357993 rs915899 |
795 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA410834367 rs779176025 |
795 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125269 rs779176025 |
795 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749647936 CA10125267 |
796 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10125266 rs780407290 |
796 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322357956 rs139955785 |
797 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs766964949 CA10125263 |
798 | M>I | No |
ClinGen ExAC TOPMed |
|
|
CA10125264 rs750959964 |
798 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756768885 CA10125262 |
799 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs762571687 CA10125259 |
801 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198285301 CA410834321 |
802 | F>L | No |
ClinGen gnomAD |
|
|
rs1490419283 CA410834320 |
803 | C>R | No |
ClinGen gnomAD |
|
|
rs990533851 CA322357881 |
804 | D>G | No |
ClinGen TOPMed |
|
|
rs1202879907 CA410834300 |
805 | P>L | No |
ClinGen gnomAD |
|
|
CA410834305 rs1293428824 |
805 | P>S | No |
ClinGen gnomAD |
|
|
CA10125256 rs543619154 |
806 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450694591 CA410834294 |
807 | F>L | No |
ClinGen TOPMed |
|
|
rs577783064 CA10125254 |
808 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1367122120 CA410834270 |
810 | L>V | No |
ClinGen TOPMed |
|
|
CA410834265 rs1306342680 |
811 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1306342680 CA410834264 |
811 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410834236 rs1460337832 |
815 | H>R | No |
ClinGen gnomAD |
|
|
rs1353697496 CA410834231 |
816 | A>T | No |
ClinGen gnomAD |
|
|
rs774350862 CA10125252 |
816 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834221 rs1427061711 |
817 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1175112084 CA410834218 |
818 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10125251 rs768863185 |
818 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601802139 CA410834188 |
822 | M>T | No |
ClinGen Ensembl |
|
|
CA322357738 rs540772501 |
823 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs1270601428 CA410834175 |
824 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1270601428 CA410834177 |
824 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749513660 CA10125250 |
824 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749513660 CA410834173 |
824 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10125249 rs780352331 |
825 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025838147 CA322357726 |
826 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 829 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410834130 CA410834129 rs1263002889 |
831 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1455886110 CA410834132 |
831 | Q>R | No |
ClinGen TOPMed |
|
|
rs770165688 CA410834128 |
832 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770165688 CA10125248 |
832 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834122 rs1325760754 |
833 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1231519770 CA410834120 |
833 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10125247 rs746279778 |
835 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834112 rs1378266197 |
835 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410834108 rs1391021447 |
836 | G>S | No |
ClinGen gnomAD |
|
|
CA10125245 rs572153808 |
837 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781640557 CA10125246 |
837 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410834043 rs1227432458 |
846 | N>S | No |
ClinGen TOPMed |
|
|
CA410834033 rs1268314956 |
848 | R>G | No |
ClinGen TOPMed |
|
|
CA410834022 rs1175534362 |
849 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs554934388 CA410834025 |
849 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs1201155133 CA410834004 |
852 | D>A | No |
ClinGen TOPMed |
|
|
rs1483244699 CA410833996 |
853 | K>R | No |
ClinGen TOPMed |
|
|
rs535116061 CA10125243 |
854 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1179334658 CA410833958 |
859 | A>T | No |
ClinGen TOPMed gnomAD |
No associated diseases with O95985
1 regional properties for O95985
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sugar phosphate transporter domain | 25 - 299 | IPR004853 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.6.2.1 | Enzymes altering nucleic acid conformation |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| condensed chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure. |
| DNA topoisomerase III-beta-TDRD3 complex | A protein complex that has DNA topoisomerase type I and RNA topoisomerase activities. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA topoisomerase activity | Catalysis of the transient cleavage and passage of individual DNA strands or double helices through one another, resulting a topological transformation in double-stranded DNA. |
| DNA topoisomerase type I (single strand cut, ATP-independent) activity | Catalysis of a DNA topological transformation by transiently cleaving one DNA strand at a time to allow passage of another strand; changes the linking number by +1 per catalytic cycle. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
| DNA topological change | The process in which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTVLMVAEK | PSLAQSIAKI | LSRGSLSSHK | GLNGACSVHE | YTGTFAGQPV | RFKMTSVCGH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VMTLDFLGKY | NKWDKVDPAE | LFSQAPTEKK | EANPKLNMVK | FLQVEGRGCD | YIVLWLDCDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EGENICFEVL | DAVLPVMNKA | HGGEKTVFRA | RFSSITDTDI | CNAMACLGEP | DHNEALSVDA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RQELDLRIGC | AFTRFQTKYF | QGKYGDLDSS | LISFGPCQTP | TLGFCVERHD | KIQSFKPETY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WVLQAKVNTD | KDRSLLLDWD | RVRVFDREIA | QMFLNMTKLE | KEAQVEATSR | KEKAKQRPLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LNTVEMLRVA | SSSLGMGPQH | AMQTAERLYT | QGYISYPRTE | TTHYPENFDL | KGSLRQQANH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PYWADTVKRL | LAEGINRPRK | GHDAGDHPPI | TPMKSATEAE | LGGDAWRLYE | YITRHFIATV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SHDCKYLQST | ISFRIGPELF | TCSGKTVLSP | GFTEVMPWQS | VPLEESLPTC | QRGDAFPVGE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VKMLEKQTNP | PDYLTEAELI | TLMEKHGIGT | DASIPVHINN | ICQRNYVTVE | SGRRLKPTNL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GIVLVHGYYK | IDAELVLPTI | RSAVEKQLNL | IAQGKADYRQ | VLGHTLDVFK | RKFHYFVDSI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AGMDELMEVS | FSPLAATGKP | LSRCGKCHRF | MKYIQAKPSR | LHCSHCDETY | TLPQNGTIKL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YKELRCPLDD | FELVLWSSGS | RGKSYPLCPY | CYNHPPFRDM | KKGMGCNECT | HPSCQHSLSM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LGIGQCVECE | SGVLVLDPTS | GPKWKVACNK | CNVVAHCFEN | AHRVRVSADT | CSVCEAALLD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VDFNKAKSPL | PGDETQHMGC | VFCDPVFQEL | VELKHAASCH | PMHRGGPGRR | QGRGRGRARR |
| 850 | 860 | ||||
| PPGKPNPRRP | KDKMSALAAY | FV |