Q9UBC3
EV
Gene name |
DNMT3B |
Protein name |
DNA |
Names |
cytosine-5-methyltransferase 3B, Dnmt3b, DNA methyltransferase HsaIIIB, DNA MTase HsaIIIB, M.HsaIIIB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1789 |
EC number |
2.1.1.37: Methyltransferases |
Protein Class |
DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED (PTHR23068) |
Descriptions
Oligomerization of DNMT3B, a mammalian de novo DNA methyltransferase, critically regulates its chromatin targeting and DNA methylation activities. The ADD domain of DNMT3B interacts with the MTase domain to form an autoinhibitory conformation, regulating the dynamic assembly of DNMT3B and its DNA methylation activities.
Autoinhibitory domains (AIDs)
Target domain |
575-853 (Methyltransferase domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
32 structures for Q9UBC3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3FLG | X-ray | 180 A | A | 206-355 | PDB |
| 3QKJ | X-ray | 204 A | A/B/C/D | 206-355 | PDB |
| 5CIU | X-ray | 224 A | A/B | 206-355 | PDB |
| 5NR3 | X-ray | 230 A | A/B | 206-355 | PDB |
| 5NRR | X-ray | 170 A | A/B | 206-355 | PDB |
| 5NRS | X-ray | 230 A | A/B | 206-355 | PDB |
| 5NRV | X-ray | 208 A | A/D | 206-355 | PDB |
| 5NV0 | X-ray | 240 A | A/B | 206-355 | PDB |
| 5NV2 | X-ray | 203 A | A/B | 206-355 | PDB |
| 5NV7 | X-ray | 257 A | A/B | 206-355 | PDB |
| 5NVO | X-ray | 240 A | A/B | 206-355 | PDB |
| 6KDA | X-ray | 291 A | A/D | 571-853 | PDB |
| 6KDB | X-ray | 286 A | A/D | 571-853 | PDB |
| 6KDL | X-ray | 327 A | A/D | 571-853 | PDB |
| 6KDP | X-ray | 293 A | A/D | 571-853 | PDB |
| 6KDT | X-ray | 287 A | A/D | 571-853 | PDB |
| 6PA7 | EM | 294 A | N/S | 1-853 | PDB |
| 6R3E | X-ray | 227 A | A/B | 215-351 | PDB |
| 6U8P | X-ray | 305 A | A/D | 563-853 | PDB |
| 6U8V | X-ray | 300 A | A/D | 563-853 | PDB |
| 6U8W | X-ray | 295 A | A/D | 563-853 | PDB |
| 6U8X | X-ray | 295 A | A/D | 563-853 | PDB |
| 6U90 | X-ray | 300 A | A/D | 563-853 | PDB |
| 6U91 | X-ray | 300 A | A/D | 563-853 | PDB |
| 7O45 | X-ray | 210 A | A/B/C/D | 412-554 | PDB |
| 7V0E | X-ray | 327 A | A/B/C/D/E/F/G/H | 569-853 | PDB |
| 7X9D | X-ray | 308 A | A/D | 571-853 | PDB |
| 8EIH | EM | 304 A | A/B/C/D/E | 206-853 | PDB |
| 8EII | EM | 312 A | A/B/C/D | 206-853 | PDB |
| 8EIJ | EM | 334 A | A/B/D | 206-853 | PDB |
| 8EIK | EM | 319 A | A/B/C/D/E/F | 206-853 | PDB |
| AF-Q9UBC3-F1 | Predicted | AlphaFoldDB |
684 variants for Q9UBC3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs201455430 COSM1196453 CA9810000 RCV001347697 COSM1196454 |
5 | T>S | lung Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1204305 CA313179682 rs375171362 COSM1204304 RCV001316619 |
15 | G>S | large_intestine Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001201367 RCV000636686 CA9810020 rs151128145 RCV000762341 RCV002529854 |
25 | G>R | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9810025 RCV001337280 rs775216151 |
29 | D>N | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007135 CA118472 rs121908945 |
30 | Q>* | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766920119 CA9810030 RCV001064075 |
34 | S>L | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000349798 CA9810033 rs374913902 RCV001227553 RCV002520009 |
39 | E>Q | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001503172 rs150200553 CA9810036 |
42 | R>C | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000809418 CA9810038 RCV003166285 rs757214677 RCV001356974 |
43 | T>I | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9810073 rs762185930 RCV000697050 |
48 | G>D | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1978602545 RCV001221994 |
49 | R>* | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1978603308 RCV001052887 |
52 | S>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9810074 COSM327789 RCV003114498 RCV000369778 rs544561079 COSM327790 |
53 | S>L | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 skin Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000522310 rs764811687 RCV002231639 CA9810080 |
56 | S>F | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA313183002 rs545685689 RCV001325350 |
76 | G>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002235410 CA9810112 rs142571267 |
85 | P>L | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM270827 RCV001056492 COSM167729 rs149520896 CA9810115 RCV001142962 |
92 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001239958 rs769220144 CA313183070 |
97 | R>G | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000636687 CA9810118 rs200902224 |
97 | R>H | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs534208434 CA313184470 RCV002234839 |
111 | V>I | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs546278202 CA9810156 RCV000270418 |
114 | R>Q | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218211 CA9810155 rs749197342 |
114 | R>W | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9810159 rs559899499 RCV001513732 |
117 | H>Y | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA9810160 rs773011198 RCV001211510 |
118 | R>G | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001246720 rs768468807 CA9810166 COSM577154 COSM577155 |
122 | R>C | lung Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA9810167 RCV001242745 rs757657111 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs780085636 RCV001315208 CA9810171 |
126 | G>A | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs538400808 RCV001297381 CA9810172 |
127 | R>W | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9810177 RCV001344019 rs773207465 COSM3770766 COSM3770767 |
130 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1161625162 RCV001142967 |
146 | L>P | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408586439 rs1457500486 RCV001296767 |
148 | R>Q | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9810218 rs200405601 RCV001068113 |
149 | R>W | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs759777486 CA9810227 RCV000689842 |
156 | T>M | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233836 CA408586500 rs764064020 |
159 | P>Q | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001324591 rs577793089 CA9810232 |
163 | S>N | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1280453183 RCV001070337 CA408586611 |
177 | T>A | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001882417 rs537913125 RCV001138228 CA9810244 |
180 | T>M | Variant assessed as Somatic; 0.0 impact. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000556975 CA9810253 rs147591633 |
189 | A>T | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA408586792 RCV002235787 rs1601092841 |
195 | S>N | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231627 CA408586785 rs1568840224 |
195 | S>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002234984 COSM3728024 rs61758433 CA9810263 COSM3728025 CA9810262 |
198 | G>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA9810261 RCV002235086 rs61758433 RCV000816745 |
198 | G>W | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9810265 rs776039454 RCV001215757 |
199 | G>D | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001318084 rs1979451956 |
199 | G>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147945634 RCV001816578 CA9810268 RCV001280986 RCV003224358 RCV000636690 |
203 | P>L | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210853 rs964977606 |
237 | S>C | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA313186378 rs996321864 RCV001233339 |
255 | M>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002234959 CA9810306 rs772383693 |
259 | R>Q | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1979652729 RCV001232126 |
260 | W>* | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA118479 RCV000007137 VAR_022579 rs121908947 |
270 | S>P | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 ICF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA9810330 RCV001138232 rs145632647 RCV000483268 RCV001088271 |
296 | V>I | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9810332 RCV000265593 rs768136416 |
302 | M>V | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772806134 RCV001058428 |
310 | R>S | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298678 rs763435705 |
312 | R>P | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9810363 RCV001054118 rs761984399 |
319 | S>C | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000380044 rs886056613 CA10653061 |
320 | S>R | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754921958 RCV000815712 CA9810372 |
339 | G>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770469129 RCV001313139 CA9810377 |
347 | G>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297781 rs1980129917 |
352 | N>K | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052137 CA9810379 rs763492333 COSM3670238 COSM3670239 |
353 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10643745 rs886056614 RCV000317127 |
362 | V>L | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215056 rs113400552 RCV001528537 CA313189530 |
363 | R>C | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138596278 CA9810410 COSM723105 RCV000797553 |
363 | R>H | lung Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001056374 rs763959693 CA9810413 |
365 | A>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1361035589 CA408585075 RCV001221218 |
379 | T>I | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000529046 rs35846833 RCV002252154 RCV000524057 CA9810442 RCV001138651 |
382 | R>C | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000541530 RCV000859846 rs150682895 RCV001573975 CA9810446 |
384 | A>T | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753291521 COSM1238713 CA9810456 COSM1238712 RCV001214821 |
395 | A>T | lung Variant assessed as Somatic; 0.0 impact. oesophagus Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001219472 CA9810457 rs138171867 |
396 | P>S | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA891844121 rs1568850004 RCV000687250 |
403 | C>Y | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9810462 rs143462810 RCV000578148 RCV000859904 RCV001618596 RCV002265745 RCV000371781 |
404 | Y>C | Kabuki syndrome 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Kabuki syndrome 1 (kabuk1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148646143 CA9810467 RCV000282009 RCV001049943 RCV002523156 |
407 | G>S | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000479168 CA9810527 RCV001141227 RCV002525925 rs201465442 RCV001059188 |
444 | V>M | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150736372 CA9810529 RCV000985130 RCV001244027 |
446 | F>S | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001323830 rs546965300 CA9810537 |
454 | L>F | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001143068 rs771769549 CA9810540 |
459 | R>Q | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002234835 CA9810592 rs377551093 |
474 | Y>C | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA9810625 RCV001572694 RCV000702880 rs116943489 |
513 | A>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_077527 | 527 | C>R | FSHD4 [UniProt] | Yes | UniProt |
|
CA9810638 rs767169378 RCV000796983 |
529 | P>L | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1740656 CA9810640 rs200511977 RCV000791858 RCV002233822 RCV003166084 COSM1740655 |
531 | R>C | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002562439 RCV001217873 rs374520428 CA9810641 |
531 | R>H | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA408587119 rs1601121318 RCV002234217 |
533 | H>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9810647 RCV000797245 rs544333946 |
537 | R>Q | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001035404 CA9810648 rs562665925 |
539 | R>W | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001138326 rs775688885 CA9810650 |
544 | V>M | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_077528 COSM1681612 COSM1681611 CA9810685 rs750849178 |
585 | A>T | ovary ICF1 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
| VAR_011506 | 585 | A>V | ICF1 [UniProt] | Yes | UniProt |
|
RCV001063943 CA313155112 rs367796697 |
592 | K>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000305828 CA9810717 COSM3785383 RCV001489754 rs752495145 COSM3785384 |
602 | V>I | pancreas Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007132 RCV002512866 rs121908943 VAR_011499 CA118467 |
603 | A>T | Variant assessed as Somatic; 0.0 impact. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ICF1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs867732105 CA313155126 VAR_011507 |
606 | V>A | ICF1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002231718 CA408588421 rs762537914 |
612 | A>S | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA408588429 RCV001225027 rs1568857280 |
613 | V>A | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237586 rs768347895 CA9810720 |
613 | V>L | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233369 CA9810724 COSM1411132 rs754182982 COSM1411131 |
616 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000735196 RCV001350151 rs932308287 RCV002535422 CA313155139 |
620 | G>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001047986 rs1048134602 |
623 | K>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055867 rs201657518 CA313155155 |
625 | V>M | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002234821 CA9810736 rs748988879 |
628 | V>M | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001211159 CA9810763 rs770124472 RCV002561753 |
636 | I>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1438362757 RCV000543048 CA408588961 RCV000498054 |
653 | D>N | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121908942 VAR_011500 CA118464 RCV000007128 |
663 | G>S | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 ICF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_022580 | 664 | L>P | ICF1 [UniProt] | Yes | UniProt |
|
COSM220216 VAR_077529 COSM220217 RCV001568342 RCV002234225 CA313155604 rs889145646 |
691 | P>L | Facioscapulohumeral muscular dystrophy 4, digenic Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency haematopoietic_and_lymphoid_tissue FSHD4 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
| VAR_011508 | 699 | V>G | ICF1 [UniProt] | Yes | UniProt |
|
CA313156192 RCV002234268 rs1056119394 RCV000795642 |
722 | D>N | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001141328 rs1981465098 |
724 | I>M | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908941 VAR_011501 CA9810839 RCV002227999 |
726 | V>G | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ICF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs747182299 RCV001230198 RCV000498596 CA9810842 |
733 | R>Q | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001294295 rs769823434 CA9810846 |
741 | G>R | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121908944 CA118469 RCV000007134 |
746 | V>G | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139777286 RCV002563849 CA9810870 RCV001236189 |
746 | V>M | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9810873 RCV002234363 rs770423841 |
748 | A>T | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001058769 CA408592100 rs1273316071 |
748 | A>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9810879 rs767814649 RCV002233258 RCV002531483 |
761 | E>Q | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9810880 RCV001201371 rs759448571 RCV000544568 |
764 | R>S | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001307328 rs756320752 CA9810881 |
765 | I>V | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1191203668 CA408592233 VAR_011509 |
766 | A>P | ICF1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000296781 rs886056617 CA10643766 |
771 | V>I | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA408592358 RCV002234514 rs1555842652 |
782 | K>N | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1368779496 RCV002234880 RCV000814474 |
783 | Q>R | Variant assessed as Somatic; 0.0 impact. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1981972213 RCV001345917 |
785 | K>E | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347333 CA408592388 rs868828837 |
786 | N>K | Variant assessed as Somatic; 0.0 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_011502 | 806 | E>ESTP | ICF1 [UniProt] | Yes | UniProt |
|
VAR_011510 CA408592891 rs1219696128 |
814 | H>R | ICF1 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
CA118459 RCV000007125 VAR_011503 rs121908939 |
817 | D>G | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 ICF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001227327 CA9810922 rs121908940 |
818 | V>L | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121908940 CA118461 VAR_011504 RCV000007126 RCV000845251 RCV002512865 |
818 | V>M | Variant assessed as Somatic; 0.0 impact. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ICF1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9810924 RCV002550616 RCV000990298 rs201579632 |
826 | R>C | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA408593036 RCV001326921 rs756972254 |
826 | R>H | Variant assessed as Somatic; 4.623e-05 impact. Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA313159720 rs866792483 VAR_077530 |
836 | V>M | ICF1; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA118476 rs121908946 RCV000007136 VAR_022581 |
840 | R>Q | Variant assessed as Somatic; 0.0 impact. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 ICF1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1568830313 CA408584670 |
3 | G>R | No |
ClinGen Ensembl |
|
|
CA9809999 rs778827030 |
4 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA408584676 rs778827030 |
4 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA408584684 rs1180045669 |
5 | T>A | No |
ClinGen gnomAD |
|
|
rs201455430 CA313179659 |
5 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9810001 rs758218721 |
6 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA313179660 rs974233540 |
6 | R>W | No |
ClinGen Ensembl |
|
|
CA408584709 rs1164679688 |
9 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810002 rs368407604 |
13 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9810004 rs770859652 |
14 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810005 rs770859652 |
14 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758536558 CA313179693 |
16 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA313179695 rs937385003 |
17 | R>G | No |
ClinGen TOPMed |
|
|
CA408584767 rs1601074381 |
18 | E>G | No |
ClinGen Ensembl |
|
|
CA408584772 rs1601074390 |
19 | D>H | No |
ClinGen Ensembl |
|
|
CA9810009 rs141756182 COSM139181 |
20 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9810010 rs141756182 |
20 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408584787 rs1266285999 |
21 | I>T | No |
ClinGen gnomAD |
|
|
rs754241012 CA9810014 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367766007 CA9810016 |
23 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9810018 rs758506171 |
24 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752677666 CA9810017 |
24 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408584814 rs1601074625 |
26 | A>G | No |
ClinGen Ensembl |
|
|
CA9810022 rs781115406 |
26 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1481082489 CA408584817 |
27 | C>R | No |
ClinGen TOPMed |
|
|
CA9810024 rs769293365 |
28 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA408584830 rs1371940235 |
28 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9810026 rs121908945 |
30 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA408584839 rs1424969940 |
30 | Q>P | No |
ClinGen gnomAD |
|
|
rs1424969940 CA408584840 |
30 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408584853 rs1376823517 |
32 | S>Y | No |
ClinGen gnomAD |
|
|
rs773918660 CA9810028 COSM260533 COSM260532 |
33 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761138255 CA9810029 |
34 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1210229346 CA408584872 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs1343018597 CA408584867 |
35 | P>T | No |
ClinGen gnomAD |
|
|
rs759924115 CA9810032 |
37 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9810034 rs752972556 |
39 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9810035 rs758603280 |
41 | I>N | No |
ClinGen ExAC TOPMed |
|
|
CA408584904 rs1261539595 |
41 | I>V | No |
ClinGen gnomAD |
|
|
CA9810037 rs751741367 |
42 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781313570 COSM185167 CA9810039 COSM185166 |
44 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9810041 rs755951894 |
45 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA408584936 rs1303346832 |
47 | R>G | No |
ClinGen gnomAD |
|
|
rs1437320413 CA408584965 |
49 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408584968 rs1307425507 |
50 | R>G | No |
ClinGen gnomAD |
|
|
CA408584994 rs760640013 |
54 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs760640013 CA9810077 |
54 | R>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_033885 rs17123590 CA313180853 |
54 | R>P | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs17123590 CA9810078 |
54 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1601077954 CA408585011 |
57 | K>R | No |
ClinGen Ensembl |
|
|
CA9810081 rs752329190 |
61 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA408585066 rs752329190 |
61 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA408585076 rs1261982356 |
62 | S>N | No |
ClinGen TOPMed |
|
|
CA313180889 rs551310722 |
64 | L>V | No |
ClinGen 1000Genomes |
|
|
CA408585108 rs1481782651 |
65 | S>R | No |
ClinGen gnomAD |
|
|
CA313180894 rs964839947 |
66 | Y>C | No |
ClinGen Ensembl |
|
|
rs1184306136 CA408585122 |
67 | T>A | No |
ClinGen gnomAD |
|
|
CA408585130 rs1252419302 |
67 | T>I | No |
ClinGen gnomAD |
|
| rs777231550 | 68 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766736344 CA313180903 |
68 | Q>E | No |
ClinGen Ensembl |
|
|
rs949900284 CA313180907 |
68 | Q>R | No |
ClinGen TOPMed |
|
|
CA313182961 rs894023534 |
69 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9810100 rs752527055 |
71 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA313182974 COSM3840746 rs868507905 COSM3840745 |
73 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9810103 rs751017290 |
75 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780815863 CA9810105 |
76 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA313183005 rs545685689 |
76 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs749755940 CA9810106 |
79 | G>E | No |
ClinGen ExAC |
|
|
rs755581749 CA9810107 |
80 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748547514 CA9810109 |
81 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748547514 CA408585572 |
81 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779400304 CA9810108 |
81 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9810110 rs772377740 |
84 | T>A | No |
ClinGen ExAC |
|
|
rs138276579 CA313183035 |
84 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1601085875 CA408585593 |
85 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408585607 rs1280613687 |
87 | M>T | No |
ClinGen gnomAD |
|
|
CA9810113 rs200085484 |
88 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408585645 rs776835342 |
91 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201395541 CA9810116 |
92 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408585677 rs1447244161 |
94 | T>I | No |
ClinGen TOPMed |
|
|
CA9810117 rs775213720 |
96 | T>S | No |
ClinGen ExAC |
|
|
CA313183071 rs769220144 |
97 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200902224 CA408585708 |
97 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255916022 CA408585719 |
98 | S>L | No |
ClinGen TOPMed |
|
|
CA313183088 rs529667183 |
100 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751163668 CA9810120 |
101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551752168 CA9810148 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs752000085 CA9810149 |
105 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200236170 COSM1025786 COSM1025785 CA9810150 |
106 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA313184469 rs532377032 |
107 | N>S | No |
ClinGen Ensembl |
|
|
rs781420920 CA9810151 |
109 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs534208434 CA9810152 |
111 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769854649 CA9810153 |
112 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761700747 CA9810158 |
115 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408586253 rs1292171605 |
117 | H>Q | No |
ClinGen TOPMed |
|
|
rs1228962376 CA408586262 |
119 | P>L | No |
ClinGen TOPMed |
|
|
CA9810161 rs760460742 |
119 | P>T | No |
ClinGen ExAC |
|
|
CA9810163 rs776317692 |
120 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1468133028 CA408586267 |
120 | S>Y | No |
ClinGen gnomAD |
|
|
CA313184521 rs868379415 |
121 | P>A | No |
ClinGen Ensembl |
|
|
CA408586278 rs757657111 |
122 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810168 rs767930436 |
123 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750643169 CA9810169 |
124 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408586291 rs1341617203 |
125 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754832933 CA408586300 |
127 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs754832933 CA9810173 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371009965 CA9810176 |
130 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408586320 rs1601090571 |
131 | N>H | No |
ClinGen Ensembl |
|
|
rs746628499 CA9810178 |
131 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs770751820 CA9810179 |
132 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA9810180 rs770751820 |
132 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9810181 rs759114947 |
133 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601090654 CA408586350 |
135 | E>G | No |
ClinGen Ensembl |
|
|
rs774911505 CA9810183 |
135 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810184 rs762297902 |
136 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA408586356 rs762297902 |
136 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408586360 rs1601090704 |
137 | P>S | No |
ClinGen Ensembl |
|
|
rs756280552 CA408586365 |
138 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9810187 rs756280552 |
138 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9810188 rs766619776 |
141 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766619776 CA9810189 |
141 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408586392 rs1299852823 |
142 | A>D | No |
ClinGen gnomAD |
|
|
rs1161625162 CA408586430 |
146 | L>R | No |
ClinGen gnomAD |
|
|
rs745506485 CA9810217 |
148 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810219 rs779571584 |
149 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748828546 CA9810220 |
151 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs757302285 CA313185041 |
151 | T>K | No |
ClinGen Ensembl |
|
|
CA9810222 rs147421711 COSM3423579 COSM3423580 |
153 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408586461 rs1230558112 |
153 | S>T | No |
ClinGen gnomAD |
|
|
rs1375673082 CA408586470 |
154 | A>G | No |
ClinGen TOPMed |
|
|
rs759777486 CA9810226 |
156 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452078706 CA408586482 |
157 | P>S | No |
ClinGen TOPMed |
|
|
CA9810230 rs764064020 |
159 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408586503 rs1178689157 |
160 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs954960806 CA313185073 |
163 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 165 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408586533 rs1286287492 |
165 | Y>H | No |
ClinGen TOPMed |
|
|
rs1007982035 CA313185081 |
166 | L>F | No |
ClinGen Ensembl |
|
|
rs1344773962 CA408586552 |
168 | I>V | No |
ClinGen TOPMed |
|
|
CA9810234 rs375097618 |
169 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408586575 rs1025251402 |
171 | T>I | No |
ClinGen TOPMed |
|
|
CA313185092 rs1025251402 |
171 | T>R | No |
ClinGen TOPMed |
|
|
CA9810236 rs202113400 |
172 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176877272 CA408586586 |
173 | D>G | No |
ClinGen gnomAD |
|
|
CA313185103 rs906767301 |
173 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1369174968 CA408586591 |
174 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9810238 rs1444853007 |
174 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139477345 CA313185117 |
175 | E>K | No |
ClinGen ESP |
|
|
rs1362477544 CA408586606 |
176 | D>G | No |
ClinGen TOPMed |
|
|
rs768144743 CA9810241 |
179 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9810243 rs747479840 |
180 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA313185185 rs1033838676 |
181 | P>S | No |
ClinGen TOPMed |
|
|
CA408586639 rs1273871968 |
182 | Q>E | No |
ClinGen gnomAD |
|
|
CA9810245 rs777001888 |
182 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9810247 rs369739363 |
183 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9810248 rs775867512 |
185 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9810249 rs763323430 |
185 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs764239931 CA9810250 |
186 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764239931 CA408586693 |
186 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs774622592 CA9810251 |
187 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774622592 CA313185210 |
187 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000413388 rs1057518176 |
188 | Y>missing | No |
ClinVar dbSNP |
|
|
CA408586716 rs1601092717 |
188 | Y>S | No |
ClinGen Ensembl |
|
|
CA9810254 rs147591633 |
189 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140395707 CA9810256 |
190 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774138031 CA9810257 |
190 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA313185231 rs7354578 |
192 | A>S | No |
ClinGen Ensembl |
|
|
rs754662792 CA9810258 |
193 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA408586783 rs1446254980 |
194 | D>E | No |
ClinGen gnomAD |
|
|
CA9810260 rs747675921 |
197 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408586831 rs770040598 |
198 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810264 rs770040598 |
198 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 199 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | M>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810266 rs749501031 |
200 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9810267 rs370244951 |
202 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs370244951 CA313185287 |
202 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408586882 rs1441646586 |
203 | P>S | No |
ClinGen gnomAD |
|
|
rs1461904215 CA408586890 |
204 | Q>K | No |
ClinGen gnomAD |
|
|
CA9810270 rs145326983 |
207 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313185300 rs145326983 |
207 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313185303 rs149227630 |
208 | D>A | No |
ClinGen ESP |
|
|
CA408586952 rs1278887797 |
209 | S>R | No |
ClinGen TOPMed |
|
|
CA408586968 rs1380291324 |
210 | G>E | No |
ClinGen gnomAD |
|
|
rs773013635 CA9810271 |
210 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760734960 CA9810272 |
215 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143402238 CA9810273 |
216 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178977405 CA408587053 |
217 | Y>H | No |
ClinGen gnomAD |
|
|
CA408587076 rs1291907040 |
218 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9810288 rs376006476 |
219 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9810289 rs773384575 |
220 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1601096175 CA408587732 |
222 | E>G | No |
ClinGen Ensembl |
|
|
rs1601096187 CA408587743 |
223 | F>V | No |
ClinGen Ensembl |
|
|
rs1568842156 RCV000722742 CA408587873 |
226 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9810290 rs760505841 |
227 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313186336 rs760505841 |
227 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345973894 CA408587948 |
230 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964977606 CA313186349 |
237 | S>F | No |
ClinGen TOPMed |
|
|
CA313186362 rs867559860 |
241 | A>T | No |
ClinGen gnomAD |
|
|
rs763490983 CA9810297 |
242 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199883886 CA9810295 |
242 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762732247 CA9810296 |
242 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA408588065 rs1180421296 |
245 | S>T | No |
ClinGen gnomAD |
|
|
CA9810300 rs780710615 |
247 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901993836 CA313186369 |
248 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 252 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810302 rs754201724 |
252 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs754201724 CA9810301 |
252 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9810303 rs779489353 |
253 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408588168 rs1601096476 |
255 | M>I | No |
ClinGen Ensembl |
|
|
rs1389467513 CA408588187 |
257 | G>D | No |
ClinGen gnomAD |
|
|
CA313186413 rs772383693 |
259 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408588211 rs1422196524 |
259 | R>W | No |
ClinGen gnomAD |
|
|
CA408588222 rs1601096551 |
260 | W>G | No |
ClinGen Ensembl |
|
|
CA9810309 rs770784575 |
262 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs776562712 CA9810310 |
263 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1283808255 CA408588306 |
266 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1357390175 CA408588317 |
267 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810326 rs757314027 |
272 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs1327110669 CA408588568 |
273 | S>F | No |
ClinGen TOPMed |
|
|
CA9810327 rs781314471 |
278 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA313187884 rs983290774 |
285 | Q>K | No |
ClinGen Ensembl |
|
|
rs1330365498 CA408588685 |
291 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243294012 CA408588715 |
295 | L>V | No |
ClinGen gnomAD |
|
|
rs145632647 CA408588720 |
296 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568845166 CA408588729 |
297 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 302 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408588761 rs1391383394 |
302 | M>T | No |
ClinGen TOPMed |
|
|
rs939321131 CA313187891 |
304 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 307 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362721885 CA408589199 |
309 | A>V | No |
ClinGen gnomAD |
|
|
rs760264212 CA9810358 |
311 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760264212 CA9810357 |
311 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810360 rs763435705 |
312 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810361 rs764487838 |
314 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs951488082 CA313188709 |
314 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138369083 CA9810362 |
316 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138369083 CA408589276 |
316 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1239545223 CA408589303 |
318 | P>R | No |
ClinGen TOPMed |
|
|
CA408589345 rs767733477 |
321 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9810364 rs767733477 |
321 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA313188753 rs757945003 |
321 | P>S | No |
ClinGen Ensembl |
|
|
CA313188759 rs777499803 |
322 | G>E | No |
ClinGen Ensembl |
|
|
CA9810366 rs140978291 |
325 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9810368 rs368635669 |
326 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313188769 rs865883633 |
329 | L>M | No |
ClinGen Ensembl |
|
|
rs1568846534 CA408589462 |
329 | L>Q | No |
ClinGen Ensembl |
|
|
rs1601105083 CA408589480 |
330 | K>N | No |
ClinGen Ensembl |
|
|
rs1013448701 CA313188797 |
338 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754921958 CA9810371 |
339 | G>D | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408589628 rs1430704492 |
340 | F>L | No |
ClinGen gnomAD |
|
|
CA9810373 rs747983703 |
341 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771781648 CA9810374 |
343 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9810376 rs150148922 |
345 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408589837 rs1432193518 |
350 | P>H | No |
ClinGen TOPMed |
|
|
CA9810378 rs776044883 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408589856 rs776044883 |
351 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408589883 rs763492333 |
353 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810380 rs763492333 |
353 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158754730 CA408589892 |
354 | Q>* | No |
ClinGen TOPMed |
|
|
CA313188858 rs6141816 |
356 | V>M | No |
ClinGen Ensembl |
|
|
CA9810406 rs760904691 |
358 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA408590099 rs760904691 |
358 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766544393 CA9810407 |
360 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759545374 CA9810409 |
361 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs752673059 CA9810411 |
364 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9810412 rs369336236 |
364 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9810415 rs756893516 |
366 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1020909881 CA313189577 |
367 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA408590201 rs1462697117 |
368 | R>W | No |
ClinGen TOPMed |
|
|
rs780723199 CA9810416 |
369 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9810417 rs745594445 |
372 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9810438 rs779492871 |
376 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9810420 rs201681031 |
376 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM185172 CA9810439 rs376213530 COSM185171 |
380 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148132847 COSM1025796 CA9810440 COSM1025795 |
380 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408585101 rs1157629152 |
381 | R>S | No |
ClinGen gnomAD |
|
|
CA9810443 rs771192296 |
382 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9810444 rs771192296 |
382 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9810448 rs763129781 |
386 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408585156 rs763129781 |
386 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006325628 CA313152552 |
387 | S>L | No |
ClinGen TOPMed |
|
|
rs768839073 CA9810449 |
387 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs774150930 CA9810450 |
388 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA408585169 rs774150930 |
388 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750243629 CA9810453 |
391 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291723327 CA408585194 |
392 | Y>C | No |
ClinGen gnomAD |
|
|
CA408585191 rs1240916230 |
392 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs753291521 CA408585212 |
395 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408585216 rs1268577906 |
395 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA313152560 rs926989580 |
396 | P>L | No |
ClinGen Ensembl |
|
|
CA9810458 rs778547539 |
398 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751976489 CA9810459 |
398 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9810460 rs373908368 |
399 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408585238 rs1158669480 |
400 | K>Q | No |
ClinGen gnomAD |
|
|
CA408585248 rs1302172329 |
401 | T>A | No |
ClinGen TOPMed |
|
|
rs1445252390 CA408585251 |
401 | T>I | No |
ClinGen TOPMed |
|
|
CA408585263 rs1422711899 |
403 | C>Y | No |
ClinGen gnomAD |
|
|
CA9810465 rs749589186 |
406 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810469 rs772079891 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810470 rs772928880 |
412 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810472 rs766216373 |
416 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1025798 CA408585360 COSM1025797 rs1458849374 |
417 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9810473 rs753480369 |
417 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408585391 rs1223208192 |
420 | M>V | No |
ClinGen gnomAD |
|
|
COSM256806 CA408585399 rs1282274366 COSM256807 |
421 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9810497 rs763754806 |
421 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750930751 CA9810498 |
423 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs866375814 CA313152665 |
426 | N>S | No |
ClinGen Ensembl |
|
|
CA408585436 rs1264777380 |
427 | N>D | No |
ClinGen TOPMed |
|
|
CA313152668 rs1024581545 |
427 | N>I | No |
ClinGen TOPMed |
|
|
rs756734821 CA9810500 |
427 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1024581545 CA408585440 |
427 | N>S | No |
ClinGen TOPMed |
|
|
rs1568850501 CA408585449 |
428 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408585453 rs1203334353 |
429 | S>N | No |
ClinGen gnomAD |
|
|
CA408585646 rs1424661368 |
433 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774022931 CA9810518 |
434 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs563597562 CA9810519 |
437 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767000333 CA9810521 |
440 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs77949371 CA9810522 |
441 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9810523 rs755360302 |
441 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9810524 rs765591135 |
442 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA408585766 rs1245224488 |
442 | N>T | No |
ClinGen gnomAD |
|
|
CA408585778 rs752929250 |
443 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530689863 CA313153313 |
443 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9810525 rs752929250 |
443 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201465442 CA9810528 |
444 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs908946916 CA313153334 |
447 | H>P | No |
ClinGen Ensembl |
|
|
rs757117952 CA408585812 |
449 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810530 rs757117952 |
449 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810532 rs200912653 |
451 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000497771 CA408585834 rs1555839317 |
452 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1406343280 CA408585837 |
452 | G>V | No |
ClinGen gnomAD |
|
|
rs769626009 CA9810534 |
453 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs546965300 CA408585844 |
454 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408585865 rs1377006899 |
457 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1377006899 CA408585864 |
457 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA313153392 rs891753303 |
458 | C>R | No |
ClinGen TOPMed |
|
|
rs1051647762 CA313153660 |
460 | D>E | No |
ClinGen Ensembl |
|
|
CA408585901 rs1169940446 |
461 | R>C | No |
ClinGen TOPMed |
|
|
rs768977355 CA9810588 |
461 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA408585945 rs1460250495 |
467 | Y>S | No |
ClinGen TOPMed |
|
|
rs189867424 CA313153682 |
468 | M>K | No |
ClinGen 1000Genomes |
|
|
CA313153686 rs189867424 |
468 | M>T | No |
ClinGen 1000Genomes |
|
|
rs1456216460 CA408585960 |
469 | Y>C | No |
ClinGen gnomAD |
|
|
rs767639124 CA9810591 |
472 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA634805011 rs1447560356 |
477 | Y>* | No |
ClinGen gnomAD |
|
|
rs749068176 CA313153701 |
479 | T>A | No |
ClinGen Ensembl |
|
|
CA408586034 rs1339280595 |
480 | V>M | No |
ClinGen gnomAD |
|
|
rs1247590332 CA408586040 |
481 | C>S | No |
ClinGen gnomAD |
|
|
rs1037395724 CA313153703 |
484 | G>D | No |
ClinGen Ensembl |
|
|
COSM1250502 RCV000521490 COSM1250501 CA313153704 rs867242533 |
485 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs753800000 CA9810596 |
492 | N>S | No |
ClinGen ExAC |
|
|
CA408586120 rs1184895593 |
493 | T>A | No |
ClinGen TOPMed |
|
|
rs755018555 CA9810597 COSM1025801 COSM1025802 |
493 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408586124 rs755018555 |
493 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777301633 CA9810601 |
497 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757998715 CA9810600 |
497 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408586726 rs1325284333 |
502 | E>D | No |
ClinGen TOPMed |
|
|
CA313154299 rs994652433 |
506 | V>M | No |
ClinGen gnomAD |
|
|
CA408586805 rs1300094609 |
508 | V>L | No |
ClinGen gnomAD |
|
|
CA408586813 rs1309967185 |
509 | G>S | No |
ClinGen gnomAD |
|
|
CA408586830 rs1234722923 |
510 | T>I | No |
ClinGen gnomAD |
|
|
CA313154305 COSM1025803 COSM1025804 rs200573841 |
511 | G>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA313154308 rs768306131 |
512 | T>I | No |
ClinGen gnomAD |
|
|
CA408586862 rs116943489 |
513 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568854293 CA408586859 |
513 | A>T | No |
ClinGen Ensembl |
|
|
rs1156799209 CA408586878 |
514 | A>G | No |
ClinGen gnomAD |
|
|
CA408586874 rs1488463962 |
514 | A>S | No |
ClinGen gnomAD |
|
|
rs747146892 CA9810628 |
515 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9810629 rs771313778 |
516 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776788630 CA9810630 |
517 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9810631 rs759705660 |
517 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408586964 rs1241812878 |
520 | E>V | No |
ClinGen TOPMed |
|
|
rs1292607347 CA408586971 |
521 | P>T | No |
ClinGen gnomAD |
|
|
CA408587032 rs6058891 |
524 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1388120453 CA408587038 |
525 | Y>H | No |
ClinGen gnomAD |
|
|
CA408587071 rs1237892253 CA408587067 |
526 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763775814 CA9810635 |
526 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA313154345 rs960330899 |
528 | L>F | No |
ClinGen TOPMed |
|
|
rs555582979 CA9810636 |
528 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9810637 rs761304747 |
529 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761304747 CA313154353 |
529 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA408587101 rs1287035790 |
530 | Q>R | No |
ClinGen Ensembl |
|
|
CA9810642 rs374520428 |
531 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408587109 rs1237706309 |
532 | C>R | No |
ClinGen gnomAD |
|
|
CA9810643 rs758963586 |
533 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181056763 CA408587126 |
534 | G>D | No |
ClinGen gnomAD |
|
|
CA408587132 rs1163172380 |
535 | V>A | No |
ClinGen gnomAD |
|
|
rs200193299 COSM310681 COSM310682 CA9810645 |
535 | V>I | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM1025805 COSM1025806 CA9810646 rs771223602 |
537 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA313154379 rs987153673 |
538 | R>C | No |
ClinGen TOPMed |
|
|
rs1051749732 CA313154382 |
539 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs912852262 CA313154384 |
540 | K>E | No |
ClinGen Ensembl |
|
|
CA408587191 rs1227641097 |
542 | W>C | No |
ClinGen gnomAD |
|
|
rs775688885 CA408587213 |
544 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1411125 COSM1411126 CA9810651 rs372550911 |
545 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9810652 COSM2149382 rs572676072 COSM2149381 |
545 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408587248 rs1179565655 |
547 | Q>P | No |
ClinGen gnomAD |
|
|
CA9810653 COSM1204300 rs773958724 COSM1204301 |
549 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1200658023 CA408587318 |
552 | S>G | No |
ClinGen gnomAD |
|
|
CA408587322 rs1238835071 |
552 | S>N | No |
ClinGen gnomAD |
|
|
rs577581342 CA9810654 |
554 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1483248749 CA408587352 |
554 | T>P | No |
ClinGen gnomAD |
|
|
rs1424695736 CA408587375 |
555 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1422403201 CA408587391 |
557 | E>K | No |
ClinGen gnomAD |
|
|
CA408587420 CA408587418 rs2424922 |
558 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408587515 rs1173904784 |
560 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408587563 rs1601123452 |
564 | Y>S | No |
ClinGen Ensembl |
|
|
CA9810677 rs375825329 |
567 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773010625 CA9810676 |
567 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408587624 rs1007955291 |
569 | A>S | No |
ClinGen gnomAD |
|
|
CA313154678 rs1007955291 |
569 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA313154680 rs952998177 |
569 | A>V | No |
ClinGen TOPMed |
|
|
rs1217503696 CA408587639 |
570 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9810679 rs775949142 |
571 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9810680 rs778795266 |
571 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313154684 rs778795266 |
571 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9810682 rs143300013 |
573 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764722946 CA9810681 |
573 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408587701 rs1226308460 |
576 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1411129 COSM1411130 CA9810683 rs757889243 |
576 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408587749 rs1330985113 |
577 | V>I | No |
ClinGen TOPMed |
|
|
rs1242298577 CA408587906 |
584 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1242298577 CA408587907 |
584 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9810711 rs148312208 |
587 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408587967 rs1435332436 |
587 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810715 rs770730685 |
599 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA313155117 rs780900853 |
600 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408588374 rs1471648371 |
606 | V>M | No |
ClinGen gnomAD |
|
|
rs1165250227 CA408588387 |
607 | C>Y | No |
ClinGen gnomAD |
|
|
CA9810719 COSM1565845 COSM1565846 rs762537914 |
612 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408588427 rs768347895 |
613 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773822999 CA9810721 |
614 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138244100 CA408588440 |
615 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138244100 CA9810722 |
615 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408588461 rs759732480 |
618 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758232673 CA313155134 |
619 | E>D | No |
ClinGen gnomAD |
|
|
CA9810726 rs576798456 |
619 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs371864380 CA313155143 |
621 | N>S | No |
ClinGen ESP |
|
|
rs758473556 CA9810728 |
622 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313155152 rs1048134602 |
623 | K>T | No |
ClinGen Ensembl |
|
|
CA9810732 rs143711646 |
624 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9810730 rs751494757 |
624 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1181758591 CA408588494 |
624 | Y>H | No |
ClinGen TOPMed |
|
|
rs201657518 CA9810733 |
625 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1025807 COSM1025808 rs1477651398 CA408588511 |
627 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1236410976 CA408588877 |
640 | G>D | No |
ClinGen gnomAD |
|
|
rs1214237513 CA408588909 |
645 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 646 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9810767 rs774431732 |
646 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs371697425 CA9810770 |
650 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9810769 rs767675287 |
650 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1194842723 CA408588946 |
651 | C>R | No |
ClinGen gnomAD |
|
|
rs917029075 CA313155400 |
658 | N>H | No |
ClinGen Ensembl |
|
|
rs753687325 CA9810773 |
660 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs201168560 CA9810774 |
663 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs121908942 CA408589028 |
663 | G>C | No |
ClinGen Ensembl |
|
|
rs747897729 CA9810776 |
665 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9810798 rs756558325 |
670 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA313155575 rs936186612 |
671 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM1681614 COSM1681613 CA9810800 rs749860839 |
674 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408589168 rs1186097689 |
682 | S>A | No |
ClinGen TOPMed |
|
|
rs377397627 CA9810803 |
683 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1204302 COSM1204303 rs1165118132 CA408589183 |
683 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1407677251 CA408589203 |
685 | K>E | No |
ClinGen gnomAD |
|
|
CA9810806 rs773365247 |
686 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA313155589 rs559662934 |
687 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408589238 rs559662934 |
687 | G>V | No |
ClinGen gnomAD |
|
|
CA408589251 rs913519656 |
688 | D>E | No |
ClinGen gnomAD |
|
|
CA408589261 rs1601129548 |
689 | D>A | No |
ClinGen Ensembl |
|
|
CA408589277 rs1568859258 |
690 | R>Q | No |
ClinGen Ensembl |
|
|
RCV000762344 rs1568859301 CA408589401 |
699 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771197329 CA9810808 |
700 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA408589464 rs1216492184 |
704 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9810809 rs776675936 |
704 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1290986300 CA408589475 |
705 | G>D | No |
ClinGen TOPMed |
|
|
rs996239307 CA313155638 |
706 | D>N | No |
ClinGen gnomAD |
|
|
COSM2889615 COSM2889614 CA408589581 rs1282923538 |
712 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408589636 rs1394914089 |
715 | E>Q | No |
ClinGen TOPMed |
|
|
CA9810836 rs370027566 |
720 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319146760 CA408590529 |
721 | I>T | No |
ClinGen gnomAD |
|
|
rs1176559934 CA408590559 |
723 | A>D | No |
ClinGen TOPMed |
|
|
CA408590554 rs1256702701 |
723 | A>T | No |
ClinGen TOPMed |
|
|
CA9810838 rs189425528 |
724 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM4164673 CA408590666 rs1240056301 COSM4164674 |
730 | H>Y | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9810841 rs758755934 |
732 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758755934 CA9810840 |
732 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 733 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284473301 CA408590748 |
735 | F>S | No |
ClinGen gnomAD |
|
|
CA9810847 rs775494858 |
741 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs144522017 CA9810872 |
747 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776039012 CA9810874 |
751 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408592128 rs1469534868 |
751 | N>Y | No |
ClinGen gnomAD |
|
|
rs763489815 CA9810875 |
752 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1313945078 CA408592154 |
754 | L>P | No |
ClinGen Ensembl |
|
|
CA408592157 rs764716011 |
755 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9810876 rs764716011 |
755 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408592163 rs752174027 |
756 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA9810878 rs539018090 |
758 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408592224 rs1470720257 |
764 | R>T | No |
ClinGen gnomAD |
|
|
CA313158136 rs372465791 |
764 | R>W | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 767 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408592242 rs1476034675 |
767 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 774 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408592301 rs1165707563 |
774 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750756624 CA9810897 |
779 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 782 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564957434 CA9810900 |
782 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408592386 rs1236388289 |
786 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs369258965 CA9810902 |
787 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325488291 CA408592476 |
796 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs758296438 CA9810904 |
797 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1251215877 CA408592535 |
800 | L>F | No |
ClinGen gnomAD |
|
|
CA408592559 rs1470267081 |
803 | T>A | No |
ClinGen gnomAD |
|
|
rs1330224703 CA408592591 |
806 | E>K | No |
ClinGen gnomAD |
|
|
CA408592884 rs1460397140 |
814 | H>N | No |
ClinGen gnomAD |
|
|
rs765258381 CA9810921 |
816 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408592955 rs1348564459 |
819 | S>C | No |
ClinGen TOPMed |
|
|
CA408592957 rs1348564459 |
819 | S>F | No |
ClinGen TOPMed |
|
|
rs536641010 CA9810923 |
820 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408593015 rs1306339773 |
824 | G>S | No |
ClinGen gnomAD |
|
|
rs1366734818 CA408593027 |
825 | A>T | No |
ClinGen TOPMed |
|
|
CA9810925 rs756972254 |
826 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201579632 CA408593034 |
826 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781183120 CA9810926 |
833 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs955772228 CA408593108 |
835 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408593155 rs1182001726 |
840 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1189341990 CA408593177 |
842 | L>F | No |
ClinGen gnomAD |
|
|
CA634808410 rs1426676696 |
842 | L>H | No |
ClinGen gnomAD |
|
|
CA9810928 rs147402935 CA408593198 |
843 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267164985 CA408593201 |
844 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408593307 rs1601145431 |
853 | E>K | No |
ClinGen Ensembl |
|
|
rs773561827 CA9810931 |
854 | E>Q | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9UBC3
[MIM: 242860]: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619478]: Facioscapulohumeral muscular dystrophy 4, digenic (FSHD4)
A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. . Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. DNMT3B mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death. .
Without disease ID
- A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. . Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. DNMT3B mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death. .
No regional properties for Q9UBC3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UBC3 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.37 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23068 | DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED |
| PANTHER Subfamily | PTHR23068:SF9 | DNA (CYTOSINE-5)-METHYLTRANSFERASE 3B |
| PANTHER Protein Class | DNA methyltransferase | |
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic complex | A protein complex which is capable of catalytic activity. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA (cytosine-5-)-methyltransferase activity | Catalysis of the reaction |
| DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates | Catalysis of the reaction |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-methyltransferase activity | Catalysis of the transfer of a methyl group to a DNA molecule. |
| metal ion binding | Binding to a metal ion. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| C-5 methylation of cytosine | The covalent transfer of a methyl group to C-5 of cytosine in a DNA molecule. |
| DNA methylation | The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4W5Z4 | DNMT3A | DNA | Gallus gallus (Chicken) | SS |
| Q9Y6K1 | DNMT3A | DNA (cytosine-5)-methyltransferase 3A | Homo sapiens (Human) | EV |
| O88508 | Dnmt3a | DNA | Mus musculus (Mouse) | EV |
| P0DOY1 | Dnmt3c | DNA | Mus musculus (Mouse) | SS |
| O88509 | Dnmt3b | DNA | Mus musculus (Mouse) | SS |
| Q1LZ53 | Dnmt3a | DNA | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKGDTRHLNG | EEDAGGREDS | ILVNGACSDQ | SSDSPPILEA | IRTPEIRGRR | SSSRLSKREV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSLLSYTQDL | TGDGDGEDGD | GSDTPVMPKL | FRETRTRSES | PAVRTRNNNS | VSSRERHRPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRSTRGRQGR | NHVDESPVEF | PATRSLRRRA | TASAGTPWPS | PPSSYLTIDL | TDDTEDTHGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQSSSTPYAR | LAQDSQQGGM | ESPQVEADSG | DGDSSEYQDG | KEFGIGDLVW | GKIKGFSWWP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AMVVSWKATS | KRQAMSGMRW | VQWFGDGKFS | EVSADKLVAL | GLFSQHFNLA | TFNKLVSYRK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AMYHALEKAR | VRAGKTFPSS | PGDSLEDQLK | PMLEWAHGGF | KPTGIEGLKP | NNTQPVVNKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KVRRAGSRKL | ESRKYENKTR | RRTADDSATS | DYCPAPKRLK | TNCYNNGKDR | GDEDQSREQM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ASDVANNKSS | LEDGCLSCGR | KNPVSFHPLF | EGGLCQTCRD | RFLELFYMYD | DDGYQSYCTV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CCEGRELLLC | SNTSCCRCFC | VECLEVLVGT | GTAAEAKLQE | PWSCYMCLPQ | RCHGVLRRRK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DWNVRLQAFF | TSDTGLEYEA | PKLYPAIPAA | RRRPIRVLSL | FDGIATGYLV | LKELGIKVGK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YVASEVCEES | IAVGTVKHEG | NIKYVNDVRN | ITKKNIEEWG | PFDLVIGGSP | CNDLSNVNPA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RKGLYEGTGR | LFFEFYHLLN | YSRPKEGDDR | PFFWMFENVV | AMKVGDKRDI | SRFLECNPVM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IDAIKVSAAH | RARYFWGNLP | GMNRPVIASK | NDKLELQDCL | EYNRIAKLKK | VQTITTKSNS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IKQGKNQLFP | VVMNGKEDVL | WCTELERIFG | FPVHYTDVSN | MGRGARQKLL | GRSWSVPVIR |
| 850 | |||||
| HLFAPLKDYF | ACE |