F6VUX8 · F6VUX8_HUMAN
- ProteinCentromere protein J
- GeneCENPJ
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1136 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
COSV67883241 | 10 | L>V | cosmic curated | |||
COSV101121564 | 13 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121569 | 13 | G>W | cosmic curated | |||
COSV67884219 | 20 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA171698 COSV67882854 RCV000145583 RCV000152967 RCV000309037 RCV000401419 rs35498994 | 21 | M>L | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD | |
VAR_032427 CA149026 COSV67883494 RCV000020856 RCV000081958 RCV000263946 RCV000988968 RCV002054459 rs35498994 | 21 | M>V | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl) Seckel syndrome 1 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD | |
COSV101121534 | 23 | N>H | cosmic curated | |||
COSV104702701 | 25 | S>F | cosmic curated | |||
COSV67882885 | 26 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV106554850 rs769170833 | 26 | R>P | cosmic curated ExAC | |||
COSV67884095 | 28 | G>R | cosmic curated | |||
COSV67883113 rs770200554 | 33 | R>C | cosmic curated ExAC TOPMed gnomAD | |||
COSV67883230 rs745427182 | 33 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV67883882 | 36 | P>S | cosmic curated | |||
COSV67882894 rs377249179 | 45 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
COSV67883921 | 51 | S>C | cosmic curated | |||
COSV101121586 | 60 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882968 | 75 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105310121 | 83 | N>T | cosmic curated | |||
VAR_032430 CA171684 COSV67884526 RCV000145568 RCV000317427 RCV000372104 RCV000711280 rs9511510 | 85 | P>T | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883475 | 88 | P>A | cosmic curated | |||
COSV67882893 | 92 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121556 | 93 | S>Y | cosmic curated | |||
CA342344 COSV101121518 RCV000020853 RCV001113052 RCV002490398 RCV002513152 rs41306027 | 97 | T>A | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883526 | 104 | K>R | cosmic curated | |||
COSV67884408 | 105 | G>E | cosmic curated | |||
COSV67884175 | 109 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884010 | 110 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105933665 | 111 | C>* | cosmic curated | |||
COSV67883063 | 121 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883642 | 123 | N>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA6920029 COSV67883214 RCV000480183 rs190803157 | 130 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
COSV67883826 | 132 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883798 | 133 | F>L | cosmic curated | |||
COSV67883710 | 133 | F>S | cosmic curated | |||
COSV67883603 | 135 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121486 | 142 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121453 | 142 | L>R | cosmic curated | |||
COSV101121506 | 143 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884330 | 147 | E>V | cosmic curated | |||
COSV101121451 | 148 | Q>* | cosmic curated | |||
COSV67883425 | 151 | E>D | cosmic curated | |||
COSV67883324 | 153 | Q>H | cosmic curated | |||
COSV67884276 | 155 | K>E | cosmic curated | |||
COSV67883622 | 158 | E>* | cosmic curated | |||
COSV67883279 rs1327812314 | 159 | Q>K | cosmic curated TOPMed gnomAD | |||
COSV101121508 | 161 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121514 | 176 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883427 | 184 | G>V | cosmic curated | |||
COSV67883357 rs763694655 | 186 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV105933662 rs538260662 | 195 | P>L | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC gnomAD | ||
COSV67882916 | 196 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884253 | 198 | Q>H | cosmic curated | |||
COSV67883601 | 212 | E>D | cosmic curated | |||
COSV67883459 | 226 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883232 | 229 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104702703 | 233 | P>S | cosmic curated | |||
COSV67883148 | 236 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105310089 | 238 | S>F | cosmic curated | |||
COSV67883340 rs1329876474 | 240 | E>K | cosmic curated gnomAD | |||
COSV105310068 | 249 | H>Y | cosmic curated | |||
CA6919931 COSV67884014 RCV000593794 RCV000903211 RCV001007856 RCV001114340 rs150932292 | 255 | T>A | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
COSV101121563 rs377197058 | 258 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
COSV67883258 rs773425249 | 258 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |
COSV67883399 | 259 | A>T | cosmic curated | |||
COSV67883486 RCV002099295 rs532917061 | 259 | A>V | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
COSV67882954 | 260 | S>Y | cosmic curated | |||
COSV108235409 | 272 | A>T | cosmic curated | |||
COSV67884217 COSV67884251 | 275 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882950 | 275 | E>A | cosmic curated | |||
COSV67884251 | 275 | E>K | cosmic curated | |||
COSV101121545 | 276 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105310101 | 278 | N>S | cosmic curated | |||
COSV67883508 | 281 | E>Q | cosmic curated | |||
COSV101121450 rs753832552 | 282 | E>K | cosmic curated ExAC gnomAD | |||
COSV101121492 | 282 | E>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883854 RCV001769550 rs141469869 | 284 | R>C | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
COSV67883116 COSV67883522 rs369635681 | 284 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |
COSV67883116 | 284 | R>L | cosmic curated | |||
COSV101121590 | 289 | G>* | cosmic curated | |||
COSV101121593 | 299 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884124 | 301 | Q>E | cosmic curated | |||
COSV101121528 | 303 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883613 | 316 | S>C | cosmic curated | |||
COSV67883139 | 324 | E>Q | cosmic curated | |||
COSV105310103 | 326 | P>S | cosmic curated | |||
COSV67883381 rs745991478 | 327 | I>V | cosmic curated ExAC TOPMed gnomAD | |||
COSV101121469 | 332 | G>V | cosmic curated | |||
COSV67884232 | 339 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883780 | 342 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105310064 | 347 | Q>L | cosmic curated | |||
COSV67883463 | 355 | Q>K | cosmic curated | |||
COSV101121464 | 358 | L>M | cosmic curated | |||
COSV67884382 | 363 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV106554849 | 364 | P>S | cosmic curated | |||
COSV67883859 | 373 | Q>H | cosmic curated | |||
COSV67883856 rs749913523 | 374 | P>T | cosmic curated ExAC TOPMed gnomAD | |||
COSV67883223 rs761545596 | 378 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV67883771 | 388 | A>T | cosmic curated | |||
COSV67883482 | 394 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121467 rs1222002107 | 397 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
COSV67884152 | 402 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121583 | 403 | N>I | cosmic curated | |||
COSV101121583 COSV101121588 | 403 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883995 | 408 | E>D | cosmic curated | |||
COSV67883414 RCV001329074 RCV001820020 RCV001859254 RCV002546302 rs192296063 | 408 | E>K | Seckel syndrome 4 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
COSV67883217 | 409 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121561 rs776367665 COSV105310120 | 411 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV105310112 | 415 | M>I | cosmic curated | |||
COSV104702695 | 416 | D>Y | cosmic curated | |||
COSV67883256 | 417 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121579 | 418 | Q>H | cosmic curated | |||
COSV101121554 | 419 | Q>* | cosmic curated | |||
COSV105310116 | 421 | Q>* | cosmic curated | |||
COSV67884196 | 421 | Q>K | cosmic curated | |||
COSV67883032 rs773524787 | 422 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | ||
COSV105310087 rs1391032548 | 426 | L>F | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | ||
COSV101121491 | 434 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104702709 | 436 | P>S | cosmic curated | |||
COSV67883938 | 437 | I>F | cosmic curated | |||
COSV67883416 | 438 | L>F | cosmic curated | |||
COSV67884403 rs1364219026 | 438 | L>I | cosmic curated Ensembl | |||
COSV67883319 rs1566295021 | 468 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | ||
COSV104702697 | 470 | P>L | cosmic curated | |||
CA6919758 COSV67884299 RCV000302891 RCV000355343 RCV002056368 rs193181742 | 477 | T>M | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
COSV67883945 | 482 | D>N | cosmic curated | |||
COSV67884247 | 483 | G>A | cosmic curated | |||
COSV67883408 | 501 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884203 | 505 | E>D | cosmic curated | |||
COSV105310100 | 505 | E>Q | cosmic curated | |||
COSV67882848 rs754561101 | 507 | P>L | cosmic curated ExAC gnomAD | |||
COSV105933667 | 509 | P>A | cosmic curated | |||
COSV108235420 | 509 | P>L | cosmic curated | |||
COSV67884111 rs779744322 | 511 | D>N | cosmic curated ExAC gnomAD | |||
COSV101121582 COSV67884111 | 511 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883386 | 513 | G>C | cosmic curated | |||
COSV67883870 rs1230889329 | 515 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
COSV108235410 rs765312320 | 517 | W>G | cosmic curated ExAC gnomAD | |||
COSV104702689 | 527 | P>S | cosmic curated | |||
COSV67883947 | 531 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA10643147 COSV67883556 RCV000291472 RCV000344042 rs371842504 | 532 | P>L | Seckel syndrome 4 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD | |
COSV67884324 | 533 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883282 | 534 | S>G | cosmic curated | |||
COSV67883361 | 534 | S>N | cosmic curated | |||
COSV67883933 rs1593560049 | 537 | A>S | cosmic curated Ensembl | |||
COSV107504219 rs1433358566 | 540 | S>N | cosmic curated TOPMed gnomAD | |||
COSV101121505 | 541 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121443 rs1954540245 | 541 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | ||
COSV67883539 | 545 | T>A | cosmic curated | |||
COSV67884326 | 546 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV107504211 | 552 | S>F | cosmic curated | |||
COSV67883419 | 554 | D>H | cosmic curated | |||
COSV101121548 | 562 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV106554852 | 563 | T>S | cosmic curated | |||
CA6919712 COSV105933677 RCV000369854 RCV002265719 rs138228629 | 566 | R>* | Microcephaly 6, primary, autosomal recessive (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883669 rs748815881 | 566 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV67884271 | 575 | L>S | cosmic curated | |||
COSV101121557 | 577 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883578 RCV001730450 rs1453130615 | 582 | E>* | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
COSV104702712 | 583 | Q>E | cosmic curated | |||
COSV101121495 rs777755478 | 584 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV67883734 | 586 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV108235418 | 587 | E>D | cosmic curated | |||
COSV67883294 | 589 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105310093 | 597 | V>G | cosmic curated | |||
COSV67883628 | 600 | I>F | cosmic curated | |||
COSV107504214 | 604 | D>N | cosmic curated | |||
COSV101121494 | 605 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883173 rs141856342 | 612 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
COSV67883713 | 613 | M>V | cosmic curated | |||
COSV67882975 | 614 | S>P | cosmic curated | |||
COSV105310118 | 627 | P>S | cosmic curated | |||
COSV67883849 | 633 | H>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883816 | 635 | N>K | cosmic curated | |||
COSV67884284 rs1954531833 | 636 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | ||
COSV67883727 | 637 | S>C | cosmic curated | |||
COSV101121473 | 638 | E>* | cosmic curated | |||
COSV101121542 | 643 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882826 rs541232925 | 645 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |
CA6919671 COSV108235414 RCV000292697 RCV000389328 rs773079639 | 645 | R>H | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV67883457 | 646 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883424 | 646 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA271253 COSV67883061 RCV000145563 RCV000332352 RCV000604935 RCV000896401 rs140927921 | 654 | A>T | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV101121544 rs1225292635 | 654 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV67883372 | 661 | L>F | cosmic curated | |||
COSV101121550 | 667 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121504 | 670 | Q>R | cosmic curated | |||
COSV67883090 | 683 | S>F | cosmic curated | |||
COSV67884064 | 687 | T>I | cosmic curated | |||
COSV67882926 RCV001926463 rs576775053 | 692 | R>C | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
COSV101121562 RCV001905584 RCV002553487 rs200890637 | 692 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883911 | 703 | S>R | cosmic curated | |||
COSV67883851 | 708 | E>D | cosmic curated | |||
COSV101121476 | 712 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883136 | 720 | D>A | cosmic curated | |||
COSV67883433 | 721 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA16619622 COSV101121479 RCV000483220 rs989387440 | 723 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | |
COSV67883497 | 725 | I>V | cosmic curated | |||
COSV67884243 | 727 | S>N | cosmic curated | |||
COSV67884415 | 728 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121510 | 731 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121481 | 732 | P>S | cosmic curated | |||
COSV107504215 | 739 | G>E | cosmic curated | |||
COSV67883591 | 739 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882946 rs983379216 | 740 | P>S | cosmic curated TOPMed | |||
COSV67883387 | 748 | E>D | cosmic curated | |||
COSV101121555 | 755 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882923 | 758 | L>F | cosmic curated | |||
COSV104432447 | 762 | D>Y | cosmic curated | |||
COSV67883472 rs772264460 | 766 | D>N | cosmic curated ExAC TOPMed gnomAD | |||
COSV67883961 rs779276722 | 769 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD | ||
COSV101121474 | 771 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883093 | 775 | H>L | cosmic curated | |||
COSV101121553 rs755714584 | 777 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV67884092 | 780 | P>L | cosmic curated | |||
COSV67883645 RCV001112893 RCV001112894 rs201828176 | 781 | S>L | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV105933682 | 792 | D>E | cosmic curated | |||
COSV101121444 | 794 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883792 | 811 | V>A | cosmic curated | |||
COSV101121500 | 813 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121570 rs1414892924 | 814 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV101121480 | 816 | E>* | cosmic curated | |||
COSV67884504 | 820 | G>V | cosmic curated | |||
CA259904 COSV101121525 RCV000023763 RCV000597472 RCV000885649 RCV000988967 RCV001110892 RCV004541015 rs144938364 | 821 | T>M | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl) Seckel syndrome 1 (ClinVar) CENPJ-related disorder (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883417 | 828 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883177 COSV67884312 | 831 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883177 rs1433433164 | 831 | I>V | cosmic curated TOPMed gnomAD | |||
COSV101121503 | 834 | L>M | cosmic curated | |||
COSV67882836 rs989356433 | 838 | I>V | cosmic curated TOPMed | |||
COSV108235401 | 844 | P>R | cosmic curated | |||
COSV101121549 | 847 | R>S | cosmic curated | |||
COSV67883696 rs770154338 | 848 | G>E | cosmic curated ExAC TOPMed gnomAD | |||
COSV67884164 | 850 | D>E | cosmic curated | |||
COSV67884008 | 855 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV107504217 | 860 | P>S | cosmic curated | |||
COSV67883302 | 861 | P>L | cosmic curated | |||
COSV67883441 | 866 | M>I | cosmic curated | |||
COSV67884048 rs1254416735 | 867 | M>I | cosmic curated TOPMed gnomAD | |||
COSV67883270 | 876 | K>N | cosmic curated | |||
COSV67883268 | 877 | P>A | cosmic curated | |||
VAR_032432 CA171686 COSV67883550 RCV000020851 RCV000145569 RCV000294504 RCV000711281 rs17402892 | 879 | S>A | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (mcph6) (Ensembl) Microcephaly 6, primary, autosomal recessive (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV101121465 | 879 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121516 rs1194740975 | 890 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
COSV67884367 | 893 | Q>* | cosmic curated | |||
COSV107504218 | 896 | P>L | cosmic curated | |||
COSV67883951 rs541140338 | 897 | P>S | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
COSV67883506 rs1954466063 | 901 | A>V | cosmic curated Ensembl | |||
CA6919530 COSV104702716 RCV000598603 RCV000778389 rs374057641 | 902 | R>* | CENPJ-related disorder (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883141 rs941556834 | 902 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |
COSV101121488 | 904 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV108235403 | 904 | Q>E | cosmic curated | |||
COSV101121511 | 904 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121446 | 912 | E>K | cosmic curated | |||
COSV101121571 | 916 | E>* | cosmic curated | |||
COSV67884055 | 916 | E>K | cosmic curated | |||
COSV101121580 | 919 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121509 COSV67883410 | 922 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882920 | 922 | A>T | cosmic curated | |||
COSV101121509 COSV67883410 | 922 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883989 rs371350350 | 925 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | ||
COSV101121517 RCV001110134 RCV001110135 RCV001856471 RCV003259097 rs199749446 | 931 | R>C | Seckel syndrome 4 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | |
COSV67882864 rs761276069 | 934 | R>* | cosmic curated ExAC TOPMed gnomAD | |||
COSV67883331 | 937 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121502 | 939 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883066 | 942 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV101121478 | 951 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA271261 COSV106113385 RCV000145571 RCV000280271 RCV000380596 RCV000895689 rs138675304 | 951 | Q>R | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883384 COSV67883708 rs1053431940 | 955 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | Likely pathogenic (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |
COSV67883384 rs1053431940 | 955 | E>Q | Likely pathogenic (Ensembl) | cosmic curated TOPMed gnomAD | ||
COSV67884319 | 957 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA6919486 COSV67882965 RCV000497511 RCV000762911 rs749343808 | 958 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Microcephaly 6, primary, autosomal recessive (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV67882961 RCV001923204 rs1452062416 | 958 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | |
COSV67884315 | 961 | E>* | cosmic curated | |||
COSV101121513 COSV67884315 | 961 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104702694 | 968 | R>W | cosmic curated | |||
COSV99062058 | 972 | K>N | cosmic curated | |||
COSV101121485 | 978 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884517 | 981 | T>A | cosmic curated | |||
COSV67883954 | 986 | T>N | cosmic curated | |||
COSV67883606 rs150134807 | 988 | P>S | cosmic curated ESP ExAC TOPMed gnomAD | |||
COSV105933674 | 989 | D>H | cosmic curated | |||
COSV67884482 | 991 | K>R | cosmic curated | |||
COSV67883757 rs375262924 | 993 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | ||
COSV67883085 rs200583239 | 1001 | Q>K | cosmic curated 1000Genomes TOPMed gnomAD | |||
COSV101121448 RCV001112817 RCV001112818 rs1954196857 | 1002 | Q>K | Seckel syndrome 4 (ClinVar) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | |
COSV67883345 rs1313804167 | 1007 | R>Q | cosmic curated gnomAD | |||
CA6919422 COSV67883067 RCV000398214 rs568294978 | 1007 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
COSV67884261 | 1009 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884132 COSV67882867 | 1010 | L>F | cosmic curated | |||
COSV67883240 | 1012 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882918 | 1020 | T>I | cosmic curated | |||
COSV67883553 | 1021 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883039 | 1022 | S>G | cosmic curated | |||
COSV67883165 rs1165168883 | 1023 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | ||
CA6919415 COSV101121567 RCV000284181 RCV000336835 RCV002520875 rs146950242 | 1023 | R>H | Seckel syndrome 4 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Microcephaly 6, primary, autosomal recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV67883787 | 1024 | L>R | cosmic curated | |||
COSV67883088 | 1027 | Q>L | cosmic curated | |||
COSV67883876 | 1036 | T>I | cosmic curated | |||
COSV67883978 | 1037 | D>E | cosmic curated | |||
COSV67883210 rs749766620 | 1039 | R>W | cosmic curated ExAC TOPMed gnomAD | |||
COSV101121573 | 1040 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67882937 | 1041 | E>Q | cosmic curated | |||
COSV101121538 COSV67882933 COSV67883987 | 1047 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883987 rs970616578 | 1047 | R>K | Variant of uncertain significance (Ensembl) | cosmic curated Ensembl | ||
COSV67882933 | 1047 | R>T | cosmic curated | |||
COSV101121442 rs757159265 | 1049 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV67883524 rs1954193320 | 1049 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | ||
COSV67884428 | 1052 | A>G | cosmic curated | |||
COSV67884431 | 1052 | A>S | cosmic curated | |||
COSV67884295 | 1053 | W>* | cosmic curated | |||
COSV101121501 | 1055 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883593 | 1057 | E>V | cosmic curated | |||
COSV67882851 | 1060 | E>D | cosmic curated | |||
COSV67883500 rs773458980 | 1064 | E>K | cosmic curated ExAC TOPMed gnomAD | |||
COSV67883975 | 1066 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67883671 rs772256266 | 1067 | K>E | cosmic curated ExAC TOPMed gnomAD | |||
COSV101121537 | 1071 | L>I | cosmic curated | |||
CA6919387 COSV67883049 RCV000485858 rs769000518 | 1072 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV67883740 | 1073 | N>T | cosmic curated | |||
COSV67884116 rs897793933 | 1074 | T>I | cosmic curated Ensembl | |||
COSV67883312 rs1392548690 | 1075 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | ||
COSV105933685 | 1076 | V>I | cosmic curated | |||
COSV67883316 rs763373509 | 1077 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV101121498 | 1091 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV67884088 | 1093 | K>R | cosmic curated | |||
COSV101121535 | 1094 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104702715 rs770506371 | 1095 | N>S | cosmic curated ExAC gnomAD | |||
COSV67883259 rs1954098721 | 1095 | N>Y | cosmic curated Ensembl | |||
COSV105933675 | 1101 | G>C | cosmic curated | |||