Q9HCE0
PR
Gene name |
EPG5 (KIAA1632) |
Protein name |
Ectopic P granules protein 5 homolog |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57724 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9HCE0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7JHX | X-ray | 191 A | C/D | 560-571 | PDB |
| AF-Q9HCE0-F1 | Predicted | AlphaFoldDB |
2068 variants for Q9HCE0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1135402728 RCV000496982 |
1 | M>T | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001855042 rs1135402732 RCV000496985 |
1 | M>V | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2051286087 RCV001348555 |
10 | R>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8950033 RCV001252895 rs767991398 |
15 | A>G | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001213665 rs746311646 CA8950009 |
35 | S>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs145177562 CA8950008 RCV000828284 RCV001080010 |
35 | S>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8950003 rs370173694 RCV001058140 |
45 | E>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000768389 rs866435487 CA299792744 |
46 | Q>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_081369 | 46 | Q>del | VICIS [UniProt] | Yes | UniProt |
|
CA8949999 RCV000826992 RCV001086361 rs188069373 |
51 | L>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949998 rs761554872 RCV000807779 |
56 | K>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8949996 RCV001706669 RCV000548885 rs201067154 |
72 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000760667 RCV002533844 RCV001383670 rs183478189 CA8949984 |
88 | L>* | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA299792654 RCV001248150 rs374098492 |
90 | I>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA8949981 RCV001058061 rs371113007 |
97 | T>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000224829 RCV001088295 CA8949978 rs200530606 |
100 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822589 rs1483969601 |
105 | E>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822040 CA8949971 rs761327582 |
110 | R>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002307703 rs375017695 CA8949967 RCV001228106 |
114 | G>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949964 rs372840001 RCV000799627 |
117 | A>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001219782 CA8949953 rs773717848 |
135 | P>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688912 CA8949952 RCV002547133 rs199571302 |
136 | K>R | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691032 CA402351760 rs190673127 |
142 | E>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs190673127 CA8949949 RCV000809144 |
142 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775702849 RCV001322364 CA8949947 |
144 | N>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA299792430 rs368719987 RCV001300283 |
146 | S>L | Variant assessed as Somatic; impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA dbSNP |
|
rs371755239 CA8949939 RCV001238960 |
162 | Y>H | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA402351619 COSM438136 RCV001313484 rs1167290983 |
163 | T>I | Vici syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs201402291 RCV000533231 CA8949935 |
165 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949930 VAR_062210 rs59422275 RCV001512743 RCV000839786 RCV000455380 |
182 | K>E | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822262 rs749123170 CA8949922 |
204 | K>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753111853 CA8949913 RCV000798551 |
218 | Q>H | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200910594 CA8949911 RCV000705440 |
225 | G>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949910 rs776920434 RCV001206174 |
226 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8949908 rs200151675 RCV000815809 |
228 | P>Q | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774387511 RCV000812149 CA8949907 |
230 | L>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs370270531 CA8949901 RCV001027782 |
238 | R>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA299792189 RCV001332380 rs372940918 |
241 | R>* | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001538212 rs140494095 CA8949896 COSM1324584 RCV000528950 |
247 | P>L | ovary Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs180913079 RCV000968293 RCV001702836 RCV000736055 CA8949889 |
267 | S>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047367 RCV001252711 rs367846863 CA8949884 |
272 | V>I | Microcephaly Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001219249 rs2050982781 |
277 | E>G | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402350848 rs1358436668 RCV001326425 |
282 | M>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs767638289 RCV000768392 CA8949871 |
299 | R>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081370 | 299 | R>del | VICIS [UniProt] | Yes | UniProt |
|
CA8949861 RCV001071929 rs199732702 |
323 | S>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769257858 RCV001203418 CA8949859 |
324 | R>Q | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402350562 rs1181548699 RCV000794323 |
325 | L>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs374633337 CA8949856 RCV000818683 |
332 | Q>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201757275 VAR_069224 RCV000505787 RCV000702544 CA302650 |
336 | Q>R | Vici syndrome VICIS; relatively mild phenotype characterized by absence or later onset of cardiac or immunologic features; a normally spliced transcript with the missense variant and multiple misspliced transcripts are detected in patient cells; results in 50% decrease of mRNA levels in patient cells most probably due to nonsense-mediated decay of misspliced transcripts [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001244204 rs1195446026 CA402350469 |
337 | G>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2050937885 RCV001209389 |
340 | A>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8949827 RCV001296385 COSM1237812 rs761594653 |
348 | Y>C | thyroid Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8949825 RCV000642227 rs148098259 |
350 | R>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA402350098 RCV000804909 rs1431365834 |
383 | S>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000496977 rs1135402734 |
395 | S>* | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050251 rs968213343 CA299790674 |
397 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel RCV001211235 rs2050930158 |
413 | H>Y | Variant assessed as Somatic; impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA299790613 rs961245497 RCV000768387 |
417 | R>* | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_081371 | 417 | R>del | VICIS [UniProt] | Yes | UniProt |
|
RCV001047676 rs2050902019 |
419 | S>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3692121 RCV001572651 RCV001560978 rs117817123 RCV000547301 CA8949766 |
424 | S>N | large_intestine Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200123131 RCV001205537 CA8949759 |
440 | F>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_081372 RCV000768395 CA8949752 rs746862679 |
457 | L>P | Vici syndrome VICIS; unknown pathological significance; associated in cis with P-784 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000642214 rs572513821 CA8949735 |
464 | V>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001231803 rs370669049 CA8949733 |
466 | V>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000592484 CA8949729 rs189145719 RCV002532376 |
473 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs762639913 RCV000704115 |
478 | F>* | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200364337 CA8949726 RCV000687062 RCV001731889 |
479 | L>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000578230 CA402349230 rs1203870830 |
501 | K>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001070200 CA8949694 rs754120095 |
504 | H>P | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762634619 RCV001569770 RCV000559298 RCV002526143 CA8949689 |
511 | H>D | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8949687 CA402349150 RCV002531086 RCV000591878 RCV001237883 rs369120436 |
513 | M>I | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs746558016 RCV001327155 |
515 | S>Y | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209704 rs748453305 |
522 | P>A | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8949656 rs183660877 RCV000897447 |
537 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8949654 rs142601828 RCV001069313 |
538 | R>Q | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8949651 rs754742313 RCV001047172 |
542 | S>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402348921 rs1599633287 RCV001027987 |
547 | S>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624307 rs1229414685 CA402348876 |
555 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000707494 rs1568179586 RCV001772015 |
555 | E>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767119998 CA8949628 RCV000706574 |
566 | S>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1302366422 CA402348772 RCV000819041 |
568 | I>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001243970 rs1483709735 |
595 | K>E | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234875 RCV002563247 rs373011809 CA8949597 |
604 | T>R | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371526822 RCV001322263 CA8949596 |
605 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050711394 RCV001227583 |
606 | R>G | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760748113 CA8949595 RCV000685145 |
607 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001038573 RCV002551425 CA8949594 rs200214318 CA8949593 |
610 | M>I | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs572756147 CA8949587 RCV001064936 |
623 | L>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001052103 rs2050708572 |
638 | Q>P | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299784267 RCV000578398 rs912986968 |
642 | R>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000819786 CA8949570 rs770599313 |
647 | I>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371884344 RCV001220509 CA8949548 RCV002562509 |
650 | T>A | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050618634 RCV001214330 |
682 | V>I | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267656 rs2050617604 |
688 | F>* | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001088153 CA8949530 RCV000224558 rs61978576 RCV001726057 |
688 | F>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568173320 CA402347929 RCV000690236 |
690 | R>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001332375 CA8949508 rs769257326 |
703 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs950420567 CA299776890 RCV000792365 |
709 | E>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779316506 RCV001045885 CA8949499 |
726 | L>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2050483526 RCV001041340 |
727 | M>T | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002536371 CA8949493 rs549760994 RCV000703413 |
730 | V>A | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001230383 CA402347646 rs1218574370 |
731 | E>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001209390 rs2050481336 |
746 | Q>* | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2050480635 RCV001305571 |
752 | Q>R | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1163010781 RCV001312841 CA402347481 |
754 | P>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001418884 CA8949461 rs61736031 |
768 | N>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949457 rs201694766 RCV001056480 |
778 | T>A | Variant assessed as Somatic; 4.646e-05 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000768396 VAR_081373 rs754795342 CA8949452 |
784 | Q>P | Vici syndrome VICIS; unknown pathological significance; associated in cis with P-457 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000490632 rs1085308062 |
785 | A>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376598755 CA299775181 RCV001070560 |
799 | V>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1303743 CA8949446 RCV000694125 rs762353654 |
803 | Y>H | Variant assessed as Somatic; 0.0 impact. urinary_tract Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1436830345 RCV000798307 CA402346823 |
807 | Y>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8949427 RCV001485190 rs181383334 |
809 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA402346778 rs1192483869 RCV001201744 |
810 | L>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001225644 rs2050338855 |
815 | T>I | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs944929737 CA299774545 RCV000803415 |
815 | T>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000496981 CA8949419 rs759625169 RCV002519023 |
821 | R>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_035278 rs3744999 CA8949408 RCV000831713 RCV001522790 |
844 | E>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000033117 CA214400 COSM988457 rs587776941 |
859 | E>* | Variant assessed as Somatic; impact. endometrium Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_081374 | 859 | E>del | VICIS [UniProt] | Yes | UniProt |
|
rs1479239564 RCV001003008 CA402345998 |
870 | S>C | Syndromic retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000694394 rs201678945 COSM1130063 CA8949383 |
873 | A>V | prostate Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949376 RCV001322480 rs767545552 |
883 | N>S | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201315023 CA8949365 RCV001061094 |
901 | W>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001574246 RCV001041165 CA8949360 rs756503608 |
906 | Q>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001317582 CA8949339 rs751746856 |
920 | A>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8949330 RCV000819016 rs773907627 |
938 | G>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001044781 rs2050184005 |
949 | Y>F | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8949314 RCV000819339 rs750349437 |
949 | Y>H | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200744548 RCV001299608 RCV002541896 CA8949306 RCV002307723 |
961 | E>K | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001080650 RCV000829590 rs148777356 CA8949304 |
971 | L>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949298 rs568221137 RCV001252894 |
981 | D>N | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8949296 RCV000549652 rs755139046 |
986 | P>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001281010 rs2050179430 |
994 | S>F | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8949291 rs377499566 RCV001065434 COSM1212257 |
995 | V>I | large_intestine Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949288 RCV000642220 RCV000731491 RCV001572064 rs144334723 |
1000 | M>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060949 CA8949286 rs369506924 |
1001 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs890699630 RCV000805037 CA299768065 |
1005 | T>M | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8949281 RCV001062912 rs773390222 |
1012 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000496979 RCV001753740 rs1135402736 RCV002519024 CA402344084 |
1015 | A>V | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs946420837 CA299768027 RCV001228812 |
1016 | G>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001222154 rs373402310 CA8949278 |
1019 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001570192 RCV000642223 COSM709492 CA8949275 rs200114829 |
1027 | M>V | lung Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050174462 RCV001246250 |
1028 | T>R | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2050066834 RCV001048398 |
1038 | C>Y | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000496976 rs746885334 CA402343670 COSM563886 |
1051 | S>* | lung Variant assessed as Somatic; impact. Vici syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000819735 rs144908324 CA8949250 |
1056 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000454737 CA8949248 RCV000839780 RCV000990094 rs3744998 VAR_035279 |
1058 | V>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001205383 CA8949247 rs200633997 |
1059 | H>Y | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001090123 rs2050064434 |
1069 | Y>C | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199586840 RCV000983829 CA8949238 |
1079 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949218 RCV001722484 rs78339727 RCV000525752 RCV001702506 |
1083 | S>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050038241 RCV001061896 |
1090 | H>Q | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217161 rs200966889 CA8949212 |
1094 | G>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001343130 rs199524137 CA8949211 |
1096 | P>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA402343166 RCV000807703 rs1599566046 |
1098 | G>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8949210 RCV001306973 RCV001796433 RCV002543182 rs201545867 |
1101 | Q>H | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001567061 CA8949209 RCV000884860 rs200305944 |
1105 | H>Y | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001332376 rs2050036468 |
1111 | L>P | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_035280 rs3744997 RCV000550947 CA8949179 |
1131 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050027099 RCV001318812 |
1137 | P>L | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8949167 RCV000793820 rs771510931 |
1143 | V>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886276412 CA402342536 RCV001003007 |
1149 | W>* | Syndromic retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587776940 CA214398 RCV000033116 |
1161 | R>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_081375 | 1161 | R>del | VICIS [UniProt] | Yes | UniProt |
|
CA8949154 RCV000642224 rs61744077 |
1165 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772777352 CA8949152 RCV000768201 |
1166 | L>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200186919 RCV000983836 CA8949118 |
1203 | R>Q | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568150793 RCV000691082 |
1205 | L>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2050011051 RCV001230611 |
1210 | V>A | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs571987859 RCV001041357 CA8949113 |
1211 | S>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000794186 CA8949107 rs546759895 |
1218 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1388769 CA8949106 RCV000811795 rs556565796 |
1228 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000239138 CA8949105 COSM175228 rs778094374 RCV001854925 |
1229 | P>H | Variant assessed as Somatic; 0.0 impact. large_intestine Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8949104 rs772294581 RCV001236957 |
1230 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202747 rs772294581 |
1230 | T>N | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402341377 rs1555673917 RCV000605098 |
1233 | W>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1258237376 RCV001051186 CA402341322 |
1241 | M>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000761479 CA402341244 rs1568149047 |
1251 | L>P | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs78690150 RCV000810153 CA8949074 |
1252 | R>W | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs766928627 RCV001323860 RCV002546109 CA8949072 |
1256 | E>G | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003166420 CA8949068 rs374324769 RCV001232164 |
1264 | A>V | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555673890 RCV000526506 |
1264 | A>Y* | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2049964767 RCV001338488 |
1267 | P>A | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2049927667 RCV001348106 |
1276 | T>I | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781740724 RCV001234669 CA8949035 |
1293 | R>H | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201495638 RCV001220037 CA8949032 |
1300 | V>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1000037657 RCV001217594 CA299761740 |
1311 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2049924645 RCV001045062 |
1313 | Q>R | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8949023 RCV001572756 RCV000539107 rs148641800 |
1322 | R>H | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8949003 RCV000426995 RCV001851027 RCV002524722 rs775284965 |
1331 | I>V | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001061193 CA299760495 rs938393640 |
1334 | C>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402340281 VAR_081376 rs1085308061 RCV000490629 |
1336 | G>E | Variant assessed as Somatic; impact. Vici syndrome VICIS; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA8948996 RCV000799289 rs200456950 RCV003166176 |
1345 | H>R | Variant assessed as Somatic; 0.0 impact. Vici syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201968905 CA8948995 RCV001069881 |
1346 | I>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000442384 rs144860976 CA358108 RCV000210627 RCV001082743 RCV001573112 |
1347 | N>H | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948993 RCV001207659 rs371508723 |
1347 | N>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV001239656 CA249026 RCV000202824 rs775481546 |
1358 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1135402731 RCV000496985 |
1370 | L>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332377 rs2049869676 |
1370 | L>F | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200079588 RCV000691520 RCV002544913 CA8948975 |
1384 | H>Q | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200040634 RCV001219647 CA8948974 |
1385 | S>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs543543733 CA8948970 RCV000642209 |
1388 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001041888 rs2049867986 |
1389 | G>C | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358038 RCV000210583 RCV001060641 rs551488784 |
1390 | Y>C | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA8948960 RCV000805104 RCV002537194 rs749547713 |
1402 | R>K | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1135402729 RCV000496976 CA402339013 |
1410 | W>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1406862002 RCV000822294 CA402339007 |
1411 | L>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2049798752 RCV001041625 |
1417 | Q>P | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377196959 RCV001212031 CA8948926 |
1420 | D>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061329 CA402338860 rs1231659675 |
1421 | T>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1568142333 RCV000704113 |
1429 | H>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299757995 RCV001089500 rs374321183 |
1443 | Q>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA8948877 rs761064074 RCV001027783 RCV002552428 |
1456 | Y>C | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1599536432 RCV000991406 |
1463 | V>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746749336 RCV001297768 CA8948868 RCV000424961 |
1482 | V>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001297147 rs201986809 CA8948839 |
1500 | L>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8948837 rs186784974 RCV000532446 |
1501 | R>Q | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001350289 rs370776793 CA8948838 |
1501 | R>W | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199718702 CA8948831 RCV000808239 |
1508 | P>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948828 VAR_035281 RCV000832779 rs1893523 RCV001523279 |
1511 | A>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642225 rs139209033 CA8948827 |
1514 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642230 rs199811412 CA8948825 RCV001545366 |
1515 | T>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823020 CA8948823 rs369136227 |
1517 | P>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948819 RCV000539895 RCV002528405 rs375867560 |
1520 | P>L | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel CA8948813 rs199978382 RCV000970495 |
1528 | L>F | Vici syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD NCI-TCGA |
|
rs587776939 RCV000033114 CA214396 |
1530 | Q>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081377 | 1530 | Q>del | VICIS [UniProt] | Yes | UniProt |
|
rs374899586 RCV001245185 CA8948808 |
1533 | A>T | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
TCGA novel CA402337528 RCV000815993 rs1599529163 |
1534 | T>I | Variant assessed as Somatic; impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001313005 CA8948778 rs372801548 |
1552 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000416351 rs1057519318 |
1555 | E>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8948775 RCV001053660 RCV001759792 rs780030419 |
1555 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs944495980 RCV001041160 |
1561 | L>V | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700590 rs751554863 CA8948773 |
1563 | G>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402336884 rs1345938343 RCV001332378 |
1582 | L>P | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA402336873 rs1568133760 RCV000768397 |
1584 | L>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081378 | 1584 | L>del | VICIS [UniProt] | Yes | UniProt |
|
rs201062477 RCV002538059 CA8948761 RCV000809633 |
1589 | S>N | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370120497 COSM988449 CA8948759 RCV001343776 |
1591 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000768398 CA402336748 rs1568133724 |
1595 | Q>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081379 | 1595 | Q>del | VICIS [UniProt] | Yes | UniProt |
|
CA8948754 RCV000887836 rs200576622 |
1601 | T>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs182512524 RCV000973577 CA8948725 |
1631 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948722 RCV001323459 rs375030392 |
1639 | I>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001344602 rs2049253483 |
1655 | N>K | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222240 rs756852013 CA8948705 |
1656 | A>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375606930 RCV000816188 CA8948700 |
1663 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948692 rs200776693 RCV000809602 |
1675 | T>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2049251873 RCV001047987 |
1676 | I>V | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210941 rs2049251601 |
1678 | D>A | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs188800635 RCV000822591 CA8948688 |
1684 | T>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948658 COSM3422192 rs750664406 RCV001299535 |
1708 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002552491 rs370311674 CA8948656 RCV001040184 |
1716 | V>I | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143519809 CA8948634 RCV000960464 |
1758 | N>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8948612 rs554975133 RCV001520103 |
1770 | D>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA402344921 rs1555667238 RCV000622685 |
1786 | T>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8948598 RCV001060142 rs750395264 |
1787 | R>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001212947 rs2049117384 |
1791 | S>P | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299714200 RCV000800524 rs369731452 |
1795 | A>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1411482327 RCV001038679 |
1797 | T>S | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224129 rs759019063 CA8948590 |
1811 | F>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1568118775 RCV000768393 CA402344642 VAR_081380 |
1827 | P>A | Vici syndrome VICIS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2049113990 RCV001338516 |
1834 | L>I | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8948559 RCV000820205 rs777698208 |
1849 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1599479322 RCV001350076 |
1850 | C>S | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758263741 CA8948558 RCV000798553 |
1854 | T>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002305594 RCV001301725 rs34977955 CA8948553 RCV002543089 |
1862 | A>S | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948552 RCV000529467 RCV002292563 rs34977955 |
1862 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_035282 CA8948549 RCV000839726 rs34064739 RCV000546636 |
1864 | S>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762207905 CA8948548 RCV000624316 RCV000685343 |
1868 | G>W | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000701997 CA402343432 rs1568116795 |
1872 | T>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8948541 rs148241618 RCV000908812 |
1873 | E>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000642207 CA402343390 rs1213600316 RCV002544666 |
1879 | S>N | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8948533 rs750003350 RCV001048677 |
1883 | A>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2049058963 RCV001265567 |
1887 | D>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345842 CA8948501 rs773270236 |
1892 | E>Q | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8948499 rs138221907 RCV001348552 |
1894 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2049037342 RCV001245754 |
1897 | L>F | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522129 rs759013844 RCV001361517 CA8948490 COSM988443 |
1905 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754227425 CA8948486 RCV000822235 |
1912 | K>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402342838 RCV000642216 rs1555666104 |
1913 | S>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA299710906 rs968834469 RCV001309731 |
1929 | T>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1135402727 RCV000496982 |
1931 | L>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_081381 | 1945 | C>del | VICIS [UniProt] | Yes | UniProt |
|
RCV002543815 RCV001320992 rs111806310 CA299710846 |
1952 | A>T | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402342073 RCV001050944 rs1295248603 |
1962 | H>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000642215 CA8948438 rs150214973 |
1979 | N>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA402341877 rs763614919 RCV000705880 |
1980 | E>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000542934 rs34674177 CA8948415 RCV001538460 VAR_035283 |
1985 | R>Q | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218558 rs146306069 CA8948416 |
1985 | R>W | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA402341581 rs1568112543 RCV000768388 |
1989 | W>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081382 | 1989 | W>del | VICIS [UniProt] | Yes | UniProt |
|
rs2048970400 RCV001319442 |
1991 | E>G | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8948413 RCV002533577 rs777008903 RCV000700002 |
1994 | T>I | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1568112516 CA402341522 RCV000768386 |
1998 | S>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081383 | 1998 | S>del | VICIS [UniProt] | Yes | UniProt |
|
rs1064795230 RCV000487406 RCV002526602 |
2007 | C>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374158728 RCV002525217 RCV001853669 CA8948408 RCV000521515 |
2013 | E>K | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs756154171 RCV000803870 CA8948406 |
2015 | F>S | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1568107449 CA402340899 RCV000761428 |
2028 | W>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081384 | 2028 | W>del | VICIS [UniProt] | Yes | UniProt |
|
CA8948366 RCV001055245 rs375057925 |
2038 | C>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375057925 VAR_081385 RCV000768385 CA402340771 |
2038 | C>R | Vici syndrome VICIS; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948365 rs768999379 RCV000697078 |
2039 | T>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000560030 RCV000609518 rs200926094 CA8948359 |
2054 | T>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8948355 COSM188215 rs753386481 RCV001039292 |
2056 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Vici syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000421782 RCV000768206 COSM33655 RCV002522674 VAR_036527 CA8948356 rs116076204 |
2056 | R>W | Vici syndrome breast Inborn genetic diseases a breast cancer sample; somatic mutation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA402340443 RCV001306043 RCV002543152 rs1269756096 |
2064 | H>Y | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002534696 RCV000802092 CA8948348 rs764464544 |
2072 | A>G | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587776942 CA214402 RCV000033118 |
2078 | R>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_081386 | 2078 | R>del | VICIS [UniProt] | Yes | UniProt |
|
rs200152090 CA8948316 RCV001243924 |
2086 | L>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568104317 CA402339804 VAR_081387 RCV000768390 |
2092 | L>P | Vici syndrome VICIS; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs141854483 RCV001888410 CA299699565 COSM106589 |
2096 | N>T | skin Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs377726262 RCV001348902 CA8948309 |
2098 | V>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001302583 rs201980410 CA8948308 |
2100 | V>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8948302 RCV001332379 rs775329245 |
2114 | R>C | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1599447883 RCV000807682 |
2118 | V>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8948286 rs202038268 RCV001565604 RCV000792450 |
2135 | D>N | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000692645 rs764947795 CA8948267 |
2146 | G>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs369070714 CA8948252 RCV000797672 RCV003128703 |
2171 | H>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA402339195 rs1476353006 RCV001049859 |
2173 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001326309 CA8948245 rs201095962 |
2176 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA402339165 rs1245545639 RCV000704152 |
2179 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA402339039 RCV001203508 rs1280775043 |
2190 | L>F | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1599445663 RCV000990092 |
2193 | V>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402338943 RCV000642210 rs1555662276 |
2199 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823021 CA402338643 rs1177226409 |
2208 | D>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1431261711 RCV001303455 |
2220 | M>V | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866193216 CA299698157 RCV000818412 |
2242 | M>I | Variant assessed as Somatic; impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA8948185 rs560080785 RCV000915923 |
2244 | K>E | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1057516194 RCV000408773 |
2251 | V>missing | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049741 CA8948179 rs776541656 |
2254 | P>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000809919 CA8948151 rs201722679 |
2257 | M>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA299694628 RCV001321873 rs973783719 |
2262 | R>C | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375960377 RCV002543517 RCV001309312 CA8948148 |
2262 | R>H | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201639757 RCV000807688 CA8948147 |
2263 | H>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642208 rs547681142 CA8948145 |
2264 | M>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001337174 rs766271900 CA8948143 |
2272 | E>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000642211 rs200754523 CA8948133 |
2280 | A>V | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201213000 RCV000690125 CA8948131 |
2282 | I>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338489 rs781691565 CA8948132 |
2282 | I>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8948130 rs777908648 RCV001322387 |
2284 | T>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8948125 RCV000804353 RCV000432919 rs372382701 |
2291 | S>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA299694358 RCV001061407 rs772325682 |
2295 | W>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599429977 RCV000814703 CA402337435 |
2297 | G>R | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048570351 RCV001313369 |
2338 | P>L | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046521 CA402336744 rs1283916552 |
2343 | S>L | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs374750937 RCV000548275 CA8948080 |
2361 | E>A | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948073 RCV000804259 rs201507415 |
2384 | N>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373944025 RCV001051976 |
2386 | E>* | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000513502 rs199602966 RCV000817319 CA8948067 RCV002527409 |
2389 | L>V | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001322595 CA402336364 rs1399290496 |
2392 | E>K | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8948059 RCV002544772 RCV000687231 rs137887553 |
2401 | K>R | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8948039 rs764568339 RCV001346415 |
2411 | V>M | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000768391 CA402336204 VAR_081388 rs1568094451 |
2414 | E>K | Vici syndrome VICIS; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001348105 CA8948036 RCV002545586 rs777351158 |
2420 | W>R | Vici syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2048553679 RCV001346717 |
2422 | H>Q | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042655 rs2048553005 |
2429 | L>H | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048551891 RCV001209587 |
2436 | D>G | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299692379 rs764577859 RCV001231952 |
2442 | S>P | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780889226 CA8948025 RCV000691031 |
2445 | R>* | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_081389 | 2445 | R>del | VICIS [UniProt] | Yes | UniProt |
|
RCV001230532 rs2048549989 |
2458 | A>S | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201265 CA279162 rs863225064 |
2483 | R>* | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_081390 | 2483 | R>del | VICIS [UniProt] | Yes | UniProt |
|
RCV001052396 CA8947986 rs777272603 |
2485 | V>D | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000642212 CA299688148 rs912810095 COSM1388760 |
2487 | R>Q | large_intestine Variant assessed as Somatic; impact. Vici syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1374928586 CA402335695 RCV001054881 |
2492 | F>I | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8947979 RCV001241851 rs370315826 |
2496 | Q>E | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642217 rs191244915 RCV001706694 CA8947976 COSM1388759 |
2499 | M>V | large_intestine Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235753 rs979554550 CA299688068 |
2504 | R>H | Variant assessed as Somatic; 0.0 impact. Vici syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751623844 CA8947974 RCV001232165 |
2508 | G>V | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1189685 CA402335582 rs1447140985 RCV000802094 |
2509 | S>F | lung Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs2048438947 RCV001305322 |
2522 | N>S | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320765 rs2048438822 |
2523 | A>G | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299685725 RCV001208329 rs748731055 |
2538 | D>Y | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001304027 CA402335344 rs1172390303 |
2543 | A>T | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757431427 RCV001315323 |
2562 | A>S | Vici syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777854920 CA299685670 COSM988435 RCV000791693 |
2565 | V>I | endometrium Vici syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001336006 rs1171989598 CA402335095 |
2579 | R>G | Vici syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| TCGA novel | 3 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402350199 rs1246731922 |
3 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402350170 rs1599673196 |
5 | V>G | No |
ClinGen Ensembl |
|
|
rs751686358 CA8950044 |
7 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA402350142 rs1368802413 |
7 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1368802413 CA402350140 |
7 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751686358 CA8950043 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764203340 CA402350125 |
8 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs764203340 CA8950042 |
8 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs368321414 CA402350114 |
9 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8950040 rs776386001 |
9 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368321414 CA8950041 |
9 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298963677 CA402350105 |
10 | R>G | No |
ClinGen gnomAD |
|
|
rs766375417 CA299734686 |
10 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766375417 CA8950039 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402350087 rs773037161 |
11 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA299734683 rs375661582 |
11 | A>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs375661582 CA8950038 |
11 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA658799050 RCV002286763 rs1555683798 |
11 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8950037 rs773037161 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752936373 CA299734678 |
12 | K>T | No |
ClinGen Ensembl |
|
|
rs1190395474 CA402350066 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs1479299665 CA402350057 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA299734674 rs759657335 |
14 | K>E | No |
ClinGen Ensembl |
|
|
CA8950034 rs773993932 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748850677 CA8950031 |
17 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1328157041 CA402350011 |
17 | R>W | No |
ClinGen TOPMed |
|
|
rs1212906696 CA402349995 |
18 | T>S | No |
ClinGen gnomAD |
|
|
rs1342730910 CA402349955 |
21 | K>T | No |
ClinGen gnomAD |
|
|
rs775124308 CA8950012 |
22 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366684500 CA402352523 |
26 | Y>C | No |
ClinGen TOPMed |
|
|
CA402352519 rs1182334611 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA402352503 rs1159699120 |
29 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402352470 rs1167353740 |
33 | E>D | No |
ClinGen gnomAD |
|
|
CA402352476 rs1354775349 |
33 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746311646 CA299792753 |
35 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402352461 rs145177562 |
35 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8950006 rs747411280 |
38 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1321243187 CA402352438 |
39 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1568188600 CA402352415 |
42 | T>N | No |
ClinGen Ensembl |
|
|
CA402352418 rs1599650727 |
42 | T>P | No |
ClinGen Ensembl |
|
|
rs1402761087 CA402352407 |
43 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 47 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779111682 CA8950002 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8950001 rs755015686 |
50 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267060009 CA402352358 |
51 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 61 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200007844 CA402352282 |
62 | V>L | No |
ClinGen TOPMed |
|
|
CA402352278 rs1458071307 |
63 | V>I | No |
ClinGen gnomAD |
|
|
CA402352234 rs1367457197 |
69 | Q>R | No |
ClinGen gnomAD |
|
|
CA402352227 rs1440942364 |
70 | D>G | No |
ClinGen gnomAD |
|
|
rs751395952 CA8949997 |
70 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA402352226 rs1440942364 |
70 | D>V | No |
ClinGen gnomAD |
|
|
rs1253979449 CA402352217 |
71 | D>E | No |
ClinGen TOPMed |
|
|
CA299792720 rs748153409 |
71 | D>N | No |
ClinGen Ensembl |
|
|
rs775010392 CA8949993 |
75 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs769290826 CA8949992 |
76 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488276059 CA402352168 |
78 | S>R | No |
ClinGen gnomAD |
|
|
CA402352164 rs1568188485 |
79 | E>A | No |
ClinGen Ensembl |
|
|
CA402352153 rs1410991160 |
80 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 83 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949990 rs376730504 |
84 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778254960 CA8949987 |
86 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748333288 CA299792664 |
88 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA402352100 rs75687071 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs1300823685 CA402352098 |
89 | T>I | No |
ClinGen gnomAD |
|
|
rs75687071 CA299792657 |
89 | T>S | No |
ClinGen gnomAD |
|
|
rs1421016158 CA402352095 |
90 | I>V | No |
ClinGen gnomAD |
|
|
CA402352055 rs1599650397 |
95 | S>C | No |
ClinGen Ensembl |
|
|
CA299792644 rs201682875 |
95 | S>P | No |
ClinGen 1000Genomes |
|
|
CA8949982 rs753948535 |
96 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1200008383 CA402352027 |
100 | T>A | No |
ClinGen gnomAD |
|
|
CA8949976 rs752347100 |
102 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759089487 CA8949974 |
104 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348443076 CA402351994 |
105 | E>A | No |
ClinGen gnomAD |
|
|
rs776334139 CA402351991 CA8949973 |
105 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204559552 CA402351997 |
105 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1233714344 CA402351986 |
106 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402351987 rs1233714344 |
106 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1233714344 CA402351985 |
106 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766983961 CA8949972 |
107 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA402351967 rs1280997324 |
109 | A>G | No |
ClinGen gnomAD |
|
|
TCGA novel CA402351961 rs1425365945 |
110 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs773592824 CA8949970 |
111 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA402351950 rs1297036950 |
112 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772420839 CA8949969 |
113 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402351937 rs1465876496 |
114 | G>V | No |
ClinGen gnomAD |
|
|
CA8949966 rs768905605 |
115 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402351921 rs1370550072 |
117 | A>T | No |
ClinGen TOPMed |
|
|
rs1295662543 CA402351898 |
121 | K>E | No |
ClinGen TOPMed |
|
|
CA8949962 rs746907007 |
125 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777595339 CA8949961 |
126 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA402351861 rs1376787433 |
126 | D>V | No |
ClinGen gnomAD |
|
|
rs758174305 CA8949960 |
127 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA299792538 rs1027702347 |
127 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1260985018 CA402351846 |
129 | G>R | No |
ClinGen gnomAD |
|
|
rs764923663 CA8949958 |
131 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA402351834 rs764923663 |
131 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8949956 rs746081416 |
132 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8949954 rs760272470 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402351776 rs1247099629 |
139 | T>I | No |
ClinGen TOPMed |
|
|
rs372303214 CA8949948 |
143 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 145 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949946 rs769817832 |
146 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs368719987 CA299792434 |
146 | S>W | No |
ClinGen ESP |
|
|
rs1241104458 CA402351710 |
149 | G>A | No |
ClinGen gnomAD |
|
|
rs891069232 CA299792402 |
151 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1421324259 CA402351686 |
153 | E>A | No |
ClinGen gnomAD |
|
|
rs758319070 CA8949943 |
154 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949942 rs747965536 |
155 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1284271569 CA402351667 |
156 | P>R | No |
ClinGen gnomAD |
|
|
rs1357897550 CA402351671 |
156 | P>S | No |
ClinGen gnomAD |
|
|
rs754821148 CA8949940 |
158 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1333880560 CA402351649 |
159 | N>I | No |
ClinGen gnomAD |
|
|
rs1354258666 CA402351626 |
162 | Y>C | No |
ClinGen gnomAD |
|
|
rs779871939 CA8949938 |
163 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA402351620 rs1167290983 |
163 | T>S | No |
ClinGen TOPMed |
|
|
rs1019121308 CA299792382 |
164 | Q>H | No |
ClinGen Ensembl |
|
|
CA8949936 rs201402291 |
165 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1162993691 CA402351599 |
167 | M>V | No |
ClinGen gnomAD |
|
|
rs762283905 CA8949934 |
169 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1009964076 CA299792380 |
169 | N>S | No |
ClinGen Ensembl |
|
|
CA299792376 rs956069024 |
170 | I>T | No |
ClinGen Ensembl |
|
|
rs751948772 CA8949933 |
173 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs764384617 CA8949932 |
176 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA402351527 rs1232061817 |
177 | N>S | No |
ClinGen gnomAD |
|
|
rs1202088395 CA402351520 |
178 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402351519 rs1202088395 |
178 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1482099768 CA402351471 |
184 | G>V | No |
ClinGen gnomAD |
|
|
rs1221105354 CA402351465 |
186 | V>I | No |
ClinGen gnomAD |
|
|
rs1221105354 CA402351464 |
186 | V>L | No |
ClinGen gnomAD |
|
|
CA402351456 rs1367694881 |
187 | C>Y | No |
ClinGen TOPMed |
|
|
CA402351434 rs1435833215 |
190 | E>V | No |
ClinGen TOPMed |
|
|
CA402351418 rs1356594908 |
193 | Q>E | No |
ClinGen gnomAD |
|
|
rs1296973157 CA402351415 |
193 | Q>R | No |
ClinGen TOPMed |
|
|
rs199689972 CA8949927 |
196 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8949928 rs565743896 |
196 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772046735 CA8949926 |
199 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA299792344 rs868474586 |
201 | C>F | No |
ClinGen Ensembl |
|
|
CA402351354 rs1201131903 |
202 | P>L | No |
ClinGen gnomAD |
|
|
rs370502544 CA8949925 |
202 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768519047 CA8949923 |
204 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA402351344 rs749123170 |
204 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362482942 CA402351337 |
205 | H>R | No |
ClinGen gnomAD |
|
|
CA402351330 rs779820586 |
206 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8949921 rs779820586 |
206 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA402351322 rs1320855905 |
207 | F>L | No |
ClinGen TOPMed |
|
|
rs538841155 CA402351313 |
208 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402351317 rs1211658213 |
208 | Q>R | No |
ClinGen TOPMed |
|
|
rs749934166 CA8949919 |
209 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1465076152 CA402351307 |
210 | P>T | No |
ClinGen TOPMed |
|
|
CA402351301 rs1187307540 |
211 | R>G | No |
ClinGen TOPMed |
|
|
CA8949917 rs756805638 |
212 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367865576 CA8949918 |
212 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949916 rs571324055 |
214 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764617680 CA8949915 |
216 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763275403 CA8949914 |
217 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA299792284 rs946499668 |
218 | Q>K | No |
ClinGen TOPMed |
|
|
rs1218065454 CA402351213 |
224 | A>V | No |
ClinGen gnomAD |
|
|
rs770854669 CA8949909 |
227 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA402351175 rs1298870369 |
231 | V>E | No |
ClinGen gnomAD |
|
|
CA8949905 rs376489146 |
232 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949906 rs376489146 |
232 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949904 rs780053907 |
235 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402351152 rs1356997202 |
235 | P>T | No |
ClinGen gnomAD |
|
|
rs1415985550 CA402351142 |
237 | L>F | No |
ClinGen gnomAD |
|
|
rs745445439 CA8949902 |
238 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370270531 CA8949900 |
238 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949899 rs369316500 |
241 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949898 rs778229378 |
243 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs376018044 CA8949897 |
245 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402351087 rs1281760623 |
246 | L>V | No |
ClinGen TOPMed |
|
|
rs1221979675 CA402351072 |
248 | S>F | No |
ClinGen gnomAD |
|
|
rs764715323 CA8949894 |
251 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs753961737 CA8949893 |
252 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA402351038 rs1359899957 |
254 | P>Q | No |
ClinGen gnomAD |
|
|
rs1287097128 CA402351020 |
257 | K>E | No |
ClinGen gnomAD |
|
|
rs1599649080 CA402351016 |
257 | K>N | No |
ClinGen Ensembl |
|
|
CA8949892 rs77428812 |
257 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555681647 RCV000578547 CA402351012 |
258 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1414683118 CA402351005 |
259 | Q>E | No |
ClinGen TOPMed |
|
|
CA8949887 rs748473526 |
268 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs763052295 CA8949888 |
268 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775573444 CA8949886 |
270 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs372723196 CA8949885 |
271 | N>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA8949883 rs374954693 |
273 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA299792079 rs374954693 |
273 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402350877 rs1243011266 |
278 | E>K | No |
ClinGen gnomAD |
|
|
rs1202177538 CA402350867 |
279 | F>S | No |
ClinGen gnomAD |
|
|
CA8949881 rs200418143 |
280 | D>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs1441973419 CA402350853 |
281 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402350834 rs1412886615 |
283 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402350829 rs1258977222 |
284 | H>R | No |
ClinGen gnomAD |
|
|
rs371684643 CA8949880 |
284 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402350819 rs1202692106 |
285 | Q>H | No |
ClinGen Ensembl |
|
|
CA402350813 rs1226943091 |
286 | D>G | No |
ClinGen gnomAD |
|
|
CA402350803 rs1227636418 |
288 | H>N | No |
ClinGen TOPMed |
|
|
CA8949878 rs748593365 |
289 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs1568187178 CA402350795 |
289 | E>K | No |
ClinGen Ensembl |
|
|
CA8949875 rs754272347 |
291 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs374637282 CA8949876 |
291 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298439001 CA402350766 |
293 | L>M | No |
ClinGen gnomAD |
|
|
rs750528141 CA8949872 |
294 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 295 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402350726 rs1352322842 |
298 | S>L | No |
ClinGen gnomAD |
|
|
CA402350731 rs1568187122 |
298 | S>T | No |
ClinGen Ensembl |
|
|
rs767638289 CA402350725 |
299 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949870 rs761998075 |
299 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1182237956 CA402350721 |
300 | C>R | No |
ClinGen gnomAD |
|
|
CA8949869 rs775251241 |
300 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765259239 CA8949868 |
304 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8949867 rs759228440 |
305 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1223321091 CA402350642 |
312 | L>P | No |
ClinGen gnomAD |
|
|
rs1599648657 CA402350644 |
312 | L>V | No |
ClinGen Ensembl |
|
|
rs1483583190 CA402350639 |
313 | T>A | No |
ClinGen TOPMed |
|
|
CA402350636 rs1358767845 |
313 | T>I | No |
ClinGen gnomAD |
|
|
CA299791994 rs966120915 |
315 | T>I | No |
ClinGen TOPMed |
|
|
CA402350613 rs1378886392 |
317 | D>V | No |
ClinGen gnomAD |
|
|
CA8949863 rs772860656 |
318 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402350588 rs1390547473 |
320 | N>K | No |
ClinGen gnomAD |
|
|
rs771518381 CA8949862 |
321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402350581 rs1294882967 |
322 | K>E | No |
ClinGen gnomAD |
|
|
CA402350578 rs1424774896 |
322 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA402350577 rs1424774896 |
322 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779260764 CA8949860 |
324 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA299791937 rs765476971 |
327 | Q>P | No |
ClinGen Ensembl |
|
|
CA299791932 rs78752411 |
328 | F>V | No |
ClinGen Ensembl |
|
|
CA402350528 rs1417631496 |
330 | E>K | No |
ClinGen gnomAD |
|
|
rs1371156173 CA402350516 |
331 | E>G | No |
ClinGen TOPMed |
|
|
rs1170411804 CA402350520 |
331 | E>K | No |
ClinGen TOPMed |
|
|
CA8949855 rs371038514 |
333 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1052199553 CA299791920 |
333 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs376346776 CA8949854 |
335 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376346776 CA8949853 |
335 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298011903 CA402350491 |
335 | V>L | No |
ClinGen Ensembl |
|
|
CA299790831 rs1015983877 |
338 | I>V | No |
ClinGen TOPMed |
|
|
rs766330976 CA8949831 |
341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8949830 rs760436799 |
342 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773880955 CA8949826 |
349 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761712550 CA402350377 |
350 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949824 rs761712550 |
350 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402350355 rs1244830789 |
353 | R>K | No |
ClinGen gnomAD |
|
|
rs987186261 CA299790782 |
354 | V>G | No |
ClinGen TOPMed |
|
|
rs770471589 CA8949822 |
355 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1487152902 CA402350337 |
356 | M>K | No |
ClinGen TOPMed |
|
|
CA402350336 rs1487152902 |
356 | M>T | No |
ClinGen TOPMed |
|
|
CA8949821 rs746219623 |
356 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777200087 CA8949820 |
357 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402350313 rs1339528715 |
359 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747193373 CA8949818 |
360 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8949816 rs758460793 |
362 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8949815 rs552802219 |
363 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8949812 rs750217075 |
369 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA402350252 rs1395939976 COSM188250 |
369 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs866739749 CA299790733 |
370 | A>S | No |
ClinGen Ensembl |
|
|
CA299790721 rs376656925 |
373 | E>* | No |
ClinGen ESP |
|
|
CA8949810 rs371484691 |
373 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949811 rs767234775 |
373 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs778126200 CA8949809 |
374 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA402350184 rs1599644685 |
375 | L>F | No |
ClinGen Ensembl |
|
|
rs1443827591 CA402350163 |
376 | H>Q | No |
ClinGen gnomAD |
|
|
rs763686047 CA8949808 COSM3821480 |
380 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438033923 CA402350091 |
384 | Y>C | No |
ClinGen gnomAD |
|
|
rs765833570 CA8949805 |
385 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039269038 CA299790692 |
385 | T>I | No |
ClinGen TOPMed |
|
|
CA402350068 rs1416447634 |
386 | S>C | No |
ClinGen TOPMed |
|
|
CA8949803 rs777287772 |
387 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA402350040 rs1281626933 |
389 | S>* | No |
ClinGen gnomAD |
|
|
rs1335399941 CA402349978 |
394 | E>A | No |
ClinGen gnomAD |
|
|
rs1335399941 CA402349975 |
394 | E>V | No |
ClinGen gnomAD |
|
|
rs749500894 CA8949798 |
396 | Y>* | No |
ClinGen ExAC |
|
|
rs773448279 CA8949799 |
396 | Y>* | No |
ClinGen ExAC |
|
|
CA402349936 rs1366246422 |
397 | I>T | No |
ClinGen gnomAD |
|
|
rs748217443 CA8949796 |
398 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772236283 CA8949797 |
398 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1411427830 CA402349911 |
401 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779034631 CA8949795 |
402 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1226076178 CA402349905 |
402 | S>N | No |
ClinGen TOPMed |
|
|
rs1317039849 CA402349898 |
403 | S>C | No |
ClinGen TOPMed |
|
|
rs1023776192 CA299790621 |
405 | A>S | No |
ClinGen Ensembl |
|
|
CA8949793 rs755058164 |
405 | A>V | No |
ClinGen ExAC |
|
|
CA8949792 rs745750669 |
407 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781015270 CA8949791 |
409 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1568184842 CA402349833 |
414 | Q>* | No |
ClinGen Ensembl |
|
|
CA402349816 rs1490709433 |
416 | G>S | No |
ClinGen gnomAD |
|
|
CA8949790 rs369094716 |
417 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751359984 CA8949789 |
418 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8949769 rs746814891 |
418 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758279694 CA8949767 |
424 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8949765 rs778736190 |
426 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754502344 CA8949764 |
427 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 434 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766900458 CA8949762 |
436 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761157349 CA8949761 |
437 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750946464 CA8949760 |
438 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774516663 CA402349641 |
441 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949757 rs774516663 |
441 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295265829 CA402349625 |
443 | T>S | No |
ClinGen gnomAD |
|
|
CA402349623 rs1240072703 |
444 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768907771 CA8949756 |
450 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs775499286 CA8949754 |
451 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
rs769919323 CA8949753 |
452 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs568433236 CA299789636 |
453 | H>L | No |
ClinGen gnomAD |
|
|
rs1054136753 CA299789632 |
455 | D>E | No |
ClinGen TOPMed |
|
|
CA402349515 rs1455364971 |
459 | W>L | No |
ClinGen TOPMed |
|
|
CA402349504 RCV000760867 rs1568183567 |
461 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1427338254 CA402349502 |
461 | Q>R | No |
ClinGen gnomAD |
|
|
CA8949751 rs777785904 |
463 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8949732 rs765181007 |
466 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1171711393 CA402349449 |
468 | Q>P | No |
ClinGen gnomAD |
|
|
rs1482135186 CA402349436 |
470 | V>I | No |
ClinGen gnomAD |
|
|
CA8949730 rs772989307 |
472 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949728 rs576926580 |
476 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA299788510 rs576926580 |
476 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774358780 CA8949727 |
477 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA402349392 rs774358780 |
477 | L>I | No |
ClinGen ExAC TOPMed |
|
|
rs558579717 CA299788469 |
482 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs748837273 CA8949724 |
483 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8949723 rs779782368 |
484 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745425455 CA8949721 |
485 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8949720 rs369502506 |
485 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8949719 rs757827239 |
487 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8949717 rs764382463 |
488 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752818740 CA402349273 |
496 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752818740 CA8949715 |
496 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765533344 CA8949714 |
497 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8949712 rs776905444 |
498 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8949713 rs759508418 |
498 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402349231 rs1203870830 |
501 | K>E | No |
ClinGen gnomAD |
|
|
CA299787859 rs778147277 |
502 | V>E | No |
ClinGen Ensembl |
|
| TCGA novel | 502 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949692 rs760863379 |
506 | P>L | No |
ClinGen ExAC |
|
|
CA8949693 rs766510909 |
506 | P>S | No |
ClinGen ExAC |
|
|
CA8949691 rs751505829 |
507 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA402349185 rs1320335538 |
508 | G>E | No |
ClinGen TOPMed |
|
|
rs1002785703 CA299787796 |
509 | V>D | No |
ClinGen TOPMed |
|
|
CA8949690 rs764132273 |
509 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8949688 rs775414996 |
513 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8949686 rs759168281 |
514 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8949683 rs746558016 |
515 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949684 rs746558016 |
515 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772690435 CA8949681 |
520 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1169727556 CA402349111 |
520 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1410627276 CA402349102 |
521 | S>F | No |
ClinGen gnomAD |
|
|
CA8949679 rs748453305 |
522 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250419564 CA402349066 |
525 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402349059 rs779313684 |
526 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs779313684 CA8949661 |
526 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8949660 rs769029039 |
527 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368399347 CA8949659 |
527 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271787544 CA402349039 |
529 | F>L | No |
ClinGen TOPMed |
|
|
CA402349032 rs1452845374 |
530 | M>I | No |
ClinGen TOPMed |
|
|
rs1354658517 CA402349034 |
530 | M>T | No |
ClinGen gnomAD |
|
|
rs1281528739 CA402349000 |
534 | K>R | No |
ClinGen gnomAD |
|
|
rs1443194422 CA402348987 |
536 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs375990723 CA299786470 |
536 | S>R | No |
ClinGen ESP |
|
|
CA402348984 rs527293119 |
536 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8949655 rs372785168 |
538 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA402348960 rs1324074870 |
540 | P>L | No |
ClinGen gnomAD |
|
|
CA402348954 rs1392476434 |
541 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs754742313 CA8949652 |
542 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402348938 rs1388353048 |
544 | G>V | No |
ClinGen TOPMed |
|
|
rs1470315889 CA402348933 |
545 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8949650 rs753686339 |
545 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179428467 CA402348913 |
549 | T>A | No |
ClinGen gnomAD |
|
|
CA299786452 rs368530443 |
551 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772756617 CA8949647 |
553 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767006850 CA8949646 |
559 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1324444702 CA402348826 |
560 | D>G | No |
ClinGen gnomAD |
|
|
CA402348825 rs1324444702 |
560 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 561 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402348808 rs1188601890 |
562 | D>E | No |
ClinGen TOPMed |
|
|
rs1026189696 CA299784863 |
563 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750054758 CA8949629 |
565 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402348773 rs1599628370 |
567 | W>* | No |
ClinGen Ensembl |
|
|
CA8949627 rs761367664 |
568 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402348771 rs1302366422 |
568 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA299784855 rs1033731897 |
570 | L>V | No |
ClinGen Ensembl |
|
|
rs1364153002 CA402348749 |
571 | N>K | No |
ClinGen gnomAD |
|
|
rs534698342 CA8949626 |
572 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1315524943 CA402348737 |
573 | D>G | No |
ClinGen TOPMed |
|
|
rs763489689 CA8949624 |
575 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949623 rs776155927 |
576 | V>F | No |
ClinGen ExAC |
|
|
CA299784845 rs776155927 |
576 | V>I | No |
ClinGen ExAC |
|
|
rs1174754316 CA402348713 |
577 | T>A | No |
ClinGen gnomAD |
|
|
CA402348709 rs1390764507 |
577 | T>I | No |
ClinGen gnomAD |
|
|
CA402348707 rs1314051567 |
578 | I>V | No |
ClinGen TOPMed |
|
|
CA299784840 rs868443599 |
583 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA402348632 rs1281707766 |
588 | F>C | No |
ClinGen TOPMed |
|
|
CA8949619 rs771112415 |
589 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8949620 rs61734402 |
589 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246571349 CA402348621 |
590 | H>Y | No |
ClinGen gnomAD |
|
|
rs1007745198 CA299784833 |
593 | G>E | No |
ClinGen TOPMed |
|
|
rs888785002 TCGA novel CA8949617 |
594 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA402348591 rs1483709735 |
595 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 597 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949599 rs759930853 |
599 | D>A | No |
ClinGen ExAC |
|
|
CA8949600 rs765892676 |
599 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371526822 CA402348507 |
605 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760748113 CA402348495 |
607 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311623694 CA402348497 |
607 | P>S | No |
ClinGen gnomAD |
|
|
rs1277904180 CA402348477 |
610 | M>V | No |
ClinGen TOPMed |
|
|
CA8949592 rs561314071 |
611 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402348463 rs1369267967 |
612 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1305466825 CA402348459 |
612 | K>R | No |
ClinGen gnomAD |
|
|
CA299784324 rs909410720 |
613 | I>S | No |
ClinGen Ensembl |
|
|
CA8949590 rs369253167 |
618 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402348416 rs978507882 CA299784316 |
618 | N>K | No |
ClinGen TOPMed |
|
|
rs745672059 CA8949589 |
619 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA402348395 rs1568176728 |
622 | E>G | No |
ClinGen Ensembl |
|
|
CA8949584 rs757958571 |
625 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1476053057 CA402348372 |
626 | V>A | No |
ClinGen TOPMed |
|
|
rs1488725589 CA402348367 |
627 | G>E | No |
ClinGen gnomAD |
|
|
rs1219038752 CA402348346 |
630 | T>I | No |
ClinGen gnomAD |
|
|
rs765831533 CA8949582 |
632 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372581222 CA8949581 |
632 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764895705 CA8949579 |
635 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402348315 rs764895705 |
635 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949578 rs761134702 |
635 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773395403 CA402348301 |
637 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs773395403 CA8949577 |
637 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 637 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 641 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402348267 rs1455631275 COSM1388773 |
642 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs768787634 CA8949573 |
644 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs774481779 CA8949574 |
644 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776655554 CA8949571 |
646 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949572 rs745736928 |
646 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053593389 CA299782072 |
649 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402348201 rs1342520686 |
650 | T>I | No |
ClinGen gnomAD |
|
|
CA402348200 rs1335046172 |
651 | L>F | No |
ClinGen gnomAD |
|
|
CA402348194 rs754417895 |
652 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754417895 CA8949547 |
652 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400151325 CA402348188 |
653 | Y>H | No |
ClinGen gnomAD |
|
|
CA8949546 rs748881298 |
653 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1167758099 CA402348138 |
659 | A>V | No |
ClinGen gnomAD |
|
|
rs756685169 CA402348120 |
662 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756685169 CA8949544 |
662 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764115549 CA299782066 |
664 | H>L | No |
ClinGen Ensembl |
|
|
CA402348095 rs1405394413 |
665 | N>K | No |
ClinGen TOPMed |
|
|
CA8949540 rs751693805 |
669 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778333024 CA299782037 |
671 | A>V | No |
ClinGen Ensembl |
|
|
CA299782016 rs928367570 |
673 | Q>H | No |
ClinGen TOPMed |
|
|
CA8949537 rs775705136 |
673 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1358885035 CA402348038 |
674 | P>R | No |
ClinGen gnomAD |
|
|
rs773301726 CA8949534 |
675 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771949556 CA8949533 |
676 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761738451 CA8949532 |
677 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402348010 rs1245281353 |
678 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 681 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773856202 CA402347984 |
682 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773856202 CA8949531 |
682 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402347970 rs1307309980 |
684 | F>Y | No |
ClinGen gnomAD |
|
|
CA402347962 rs1392554965 |
685 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs942247039 CA299782002 |
689 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367653654 CA8949528 |
693 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929769017 CA299781985 |
694 | H>Q | No |
ClinGen gnomAD |
|
|
CA8949525 rs781688088 |
694 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8949526 rs746326692 |
694 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402347904 rs1203624904 |
695 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757588432 CA8949524 |
696 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA299781984 rs201671648 |
699 | K>E | No |
ClinGen Ensembl |
|
|
CA402347877 rs1568173261 |
699 | K>R | No |
ClinGen Ensembl |
|
|
rs775030892 CA8949509 |
702 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 704 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402347808 rs1259505082 |
707 | M>I | No |
ClinGen Ensembl |
|
|
rs1487711257 CA402347796 |
709 | E>G | No |
ClinGen TOPMed |
|
|
rs781654020 CA8949505 |
709 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1275322556 CA402347785 |
710 | M>I | No |
ClinGen gnomAD |
|
|
rs771491947 CA8949504 |
711 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402347776 rs1368478765 |
712 | F>Y | No |
ClinGen gnomAD |
|
|
CA402347760 rs1193550642 |
714 | T>I | No |
ClinGen TOPMed |
|
|
rs375228487 CA8949503 |
715 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778138372 CA8949502 |
715 | L>P | No |
ClinGen ExAC |
|
| rs1344466516 | 716 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402347749 rs1387370344 |
717 | V>L | No |
ClinGen gnomAD |
|
|
CA402347719 rs1568168835 RCV000760778 |
721 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA402347716 rs1426540532 |
721 | W>* | No |
ClinGen gnomAD |
|
|
rs1415632418 CA402347721 |
721 | W>R | No |
ClinGen gnomAD |
|
|
rs1172470852 CA402347698 |
724 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8949497 rs370714624 |
727 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8949496 rs767560157 |
728 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA8949495 rs575623740 |
729 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376495076 CA8949494 |
730 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762691864 CA8949492 |
732 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402347628 rs1387144639 |
734 | N>D | No |
ClinGen gnomAD |
|
|
rs764921844 CA8949489 |
734 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1449630964 CA402347605 |
737 | Q>R | No |
ClinGen gnomAD |
|
|
rs908280606 CA299776853 |
738 | L>F | No |
ClinGen TOPMed |
|
|
CA8949487 rs776049981 |
741 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402347575 rs1392502195 |
742 | L>R | No |
ClinGen gnomAD |
|
|
CA402347559 rs564487069 |
745 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564487069 CA8949485 |
745 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443228798 CA402347546 |
747 | C>R | No |
ClinGen TOPMed |
|
|
CA402347530 rs773623294 |
749 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8949484 rs773623294 |
749 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA402347528 rs1236988446 |
749 | Q>R | No |
ClinGen gnomAD |
|
|
CA402347514 rs560673236 |
751 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA299776830 rs922225568 |
751 | L>I | No |
ClinGen TOPMed |
|
|
rs560673236 CA8949483 |
751 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748508343 CA8949482 |
752 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA402347488 rs1348456661 |
753 | D>A | No |
ClinGen TOPMed |
|
|
CA402347400 rs1230349021 |
765 | S>C | No |
ClinGen TOPMed |
|
|
rs1006436383 CA299775237 |
767 | M>V | No |
ClinGen Ensembl |
|
|
CA8949459 rs780459083 |
771 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8949458 rs756191650 |
773 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 776 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251506615 CA402347322 |
777 | T>A | No |
ClinGen TOPMed |
|
|
rs996455960 CA299775214 |
779 | F>C | No |
ClinGen Ensembl |
|
|
rs1272201076 CA402347306 |
779 | F>L | No |
ClinGen gnomAD |
|
|
rs752641749 CA8949454 |
780 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330678250 CA402347262 |
783 | A>V | No |
ClinGen gnomAD |
|
|
CA299775204 rs764959017 |
784 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949453 rs764959017 |
784 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568165158 CA402347242 |
785 | A>T | No |
ClinGen Ensembl |
|
|
rs1568165144 CA402347180 |
789 | N>S | No |
ClinGen Ensembl |
|
|
rs765995776 CA8949450 |
791 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs188738484 CA8949448 |
792 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA299775193 rs943904124 |
793 | D>G | No |
ClinGen Ensembl |
|
|
CA402347094 rs1599596913 |
795 | I>M | No |
ClinGen Ensembl |
|
|
rs1368648533 CA402347074 |
797 | I>V | No |
ClinGen TOPMed |
|
|
rs1437563422 CA402347042 |
799 | V>A | No |
ClinGen gnomAD |
|
|
rs376598755 CA8949447 |
799 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 803 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 804 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451070251 CA402346851 |
805 | V>L | No |
ClinGen gnomAD |
|
|
CA8949426 rs372559810 |
811 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485650325 CA402346752 |
813 | R>G | No |
ClinGen gnomAD |
|
|
rs763399377 CA8949424 |
813 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207799967 COSM282204 CA402346728 |
814 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8949422 rs908790331 |
817 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8949420 rs770205476 |
820 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA402346691 rs1568163827 |
820 | G>S | No |
ClinGen Ensembl |
|
|
rs776940588 CA8949418 |
821 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402346672 rs368314420 |
823 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368314420 CA8949417 |
823 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402346655 rs1374823712 |
826 | T>S | No |
ClinGen gnomAD |
|
|
CA402346647 rs1370923883 |
827 | I>T | No |
ClinGen gnomAD |
|
|
CA402346651 rs1431465478 |
827 | I>V | No |
ClinGen gnomAD |
|
|
CA402346644 rs1474223945 |
828 | T>A | No |
ClinGen gnomAD |
|
|
CA299774529 rs879725915 |
828 | T>I | No |
ClinGen Ensembl |
|
|
rs768644448 CA8949414 |
829 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187668592 CA402346633 |
830 | V>L | No |
ClinGen gnomAD |
|
|
rs779658335 CA8949412 |
832 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229569254 CA402346616 |
832 | P>L | No |
ClinGen TOPMed |
|
|
rs779658335 CA8949413 |
832 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402346613 rs1256072834 |
833 | E>K | No |
ClinGen gnomAD |
|
|
CA8949411 rs755960172 |
834 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1312845136 CA402346563 |
836 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA299774519 rs374638575 |
837 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 838 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402346533 rs1194374920 |
839 | L>V | No |
ClinGen gnomAD |
|
|
CA402346511 rs1568163686 |
840 | D>E | No |
ClinGen Ensembl |
|
|
rs1568163677 CA402346509 |
841 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 841 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934919689 CA299774517 |
841 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1568163662 CA402346496 |
842 | V>I | No |
ClinGen Ensembl |
|
|
CA8949407 rs751174875 |
845 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1250644149 CA402346449 |
845 | T>S | No |
ClinGen TOPMed |
|
|
CA402346408 rs1411600924 |
848 | Q>* | No |
ClinGen gnomAD |
|
|
CA299774506 rs199547969 |
850 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758915121 CA8949405 |
850 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA402346364 rs1459219144 CA402346362 |
851 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA402346078 rs1332601834 |
858 | K>R | No |
ClinGen gnomAD |
|
|
CA299773158 rs74561023 |
859 | E>D | No |
ClinGen TOPMed |
|
|
rs1415942232 CA402346060 |
861 | P>R | No |
ClinGen TOPMed |
|
|
rs528589226 CA8949385 |
861 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402346043 rs1391750251 |
864 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1160786631 CA402346031 |
865 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1599585885 CA402346019 |
867 | P>T | No |
ClinGen Ensembl |
|
|
rs1407939790 CA402346011 |
868 | S>F | No |
ClinGen gnomAD |
|
|
CA402345972 rs1467334236 |
874 | V>A | No |
ClinGen gnomAD |
|
|
CA8949381 COSM1388772 rs755283620 |
876 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754294946 CA8949380 |
877 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA402345946 rs1283557669 |
877 | D>Y | No |
ClinGen gnomAD |
|
|
CA402345924 rs1224629580 |
878 | W>L | No |
ClinGen TOPMed |
|
|
rs760827488 CA8949378 |
880 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8949377 rs773446788 |
882 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA402345849 rs767545552 |
883 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402345829 rs1291441379 |
885 | T>A | No |
ClinGen TOPMed |
|
|
rs761994856 CA8949375 |
886 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1315532287 CA402345800 |
887 | V>E | No |
ClinGen gnomAD |
|
|
rs775272151 CA8949373 |
887 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs769833086 CA8949372 |
888 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757009134 CA299773101 |
895 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770869880 CA8949369 |
895 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187328434 CA402345677 |
896 | L>P | No |
ClinGen gnomAD |
|
|
rs927044367 CA299773099 |
896 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777604641 CA8949367 |
898 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA402345616 rs1444098801 |
901 | W>R | No |
ClinGen gnomAD |
|
|
CA8949364 rs755444122 |
902 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8949363 rs755444122 |
902 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8949362 rs754355395 |
904 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369921890 CA8949361 |
905 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA299772175 rs956531816 |
907 | A>P | No |
ClinGen gnomAD |
|
|
rs956531816 CA402345396 |
907 | A>S | No |
ClinGen gnomAD |
|
|
CA8949342 rs750847825 |
908 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8949341 rs781269702 |
910 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402345364 rs781269702 |
910 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949340 rs757435994 |
911 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461759787 CA402345321 |
914 | A>G | No |
ClinGen gnomAD |
|
|
rs1461759787 CA402345319 |
914 | A>V | No |
ClinGen gnomAD |
|
|
CA299772166 rs368949455 |
915 | V>L | No |
ClinGen ESP |
|
| TCGA novel | 917 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386886699 CA402345287 |
918 | E>K | No |
ClinGen TOPMed |
|
|
CA299772158 rs779267029 |
924 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8949336 rs367881374 |
926 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8949337 rs371695724 |
926 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480168541 CA402345155 |
930 | Y>C | No |
ClinGen gnomAD |
|
|
CA402345156 rs1480168541 |
930 | Y>S | No |
ClinGen gnomAD |
|
|
rs760542128 CA8949334 |
931 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8949333 rs773074606 |
934 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA8949332 rs771774729 |
936 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA402345115 rs1335013919 |
936 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402345114 rs1335013919 |
936 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs761477031 CA8949331 |
937 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299772118 rs905969244 |
938 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 939 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768182979 CA8949329 |
940 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8949327 rs780526148 |
942 | E>A | No |
ClinGen ExAC |
|
| TCGA novel | 942 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402344514 rs1463866515 |
950 | L>F | No |
ClinGen TOPMed |
|
|
CA8949313 rs767301545 |
951 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238972425 CA402344504 |
952 | S>N | No |
ClinGen gnomAD |
|
|
CA402344496 rs1315578420 |
953 | I>N | No |
ClinGen gnomAD |
|
|
CA8949312 COSM270841 rs761554022 |
955 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA8949311 rs774033511 |
955 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1437453197 CA402344463 |
958 | E>D | No |
ClinGen gnomAD |
|
|
CA402344469 rs1568158140 |
958 | E>K | No |
ClinGen Ensembl |
|
|
rs1190771359 CA402344456 |
959 | T>I | No |
ClinGen gnomAD |
|
|
CA402344450 rs1385744457 |
960 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1343325094 CA402344437 |
962 | T>I | No |
ClinGen gnomAD |
|
|
rs1454438359 CA402344405 |
967 | W>R | No |
ClinGen TOPMed |
|
|
CA402344361 rs370534373 |
973 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778048769 CA8949302 |
974 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202340720 CA402344347 |
975 | L>V | No |
ClinGen Ensembl |
|
|
CA8949301 CA402344337 rs758626338 |
976 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs376151942 CA299768101 |
977 | L>V | No |
ClinGen ESP |
|
|
CA299768096 rs75521775 |
978 | H>Q | No |
ClinGen Ensembl |
|
|
CA402344291 rs1485189801 |
983 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1212093839 CA402344277 |
985 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA402344269 rs1301596513 COSM1611246 |
986 | P>L | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1599578626 CA402344268 |
987 | N>H | No |
ClinGen Ensembl |
|
|
rs1253995415 CA402344263 |
987 | N>S | No |
ClinGen TOPMed |
|
|
CA402344260 rs1599578587 |
988 | C>S | No |
ClinGen Ensembl |
|
|
rs1327179728 CA402344240 |
991 | V>I | No |
ClinGen gnomAD |
|
|
CA402344239 rs1327179728 |
991 | V>L | No |
ClinGen gnomAD |
|
|
CA402344221 rs1158333141 |
993 | F>L | No |
ClinGen TOPMed |
|
|
CA402344208 rs1382764849 |
996 | T>A | No |
ClinGen gnomAD |
|
|
rs1314614536 CA402344204 |
996 | T>I | No |
ClinGen gnomAD |
|
|
CA8949289 rs763883423 |
999 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8949290 rs375094086 |
999 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949287 rs369506924 |
1001 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568157867 CA402344173 |
1002 | E>K | No |
ClinGen Ensembl |
|
|
CA402344157 rs1309491550 |
1004 | P>S | No |
ClinGen TOPMed |
|
|
rs377551412 CA8949284 |
1007 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935010738 CA299768062 |
1010 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761245167 CA8949282 |
1011 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402344089 rs1250948604 |
1015 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA402344081 rs1277121372 |
1016 | G>C | No |
ClinGen TOPMed |
|
|
rs1415324814 CA402344074 |
1017 | M>T | No |
ClinGen gnomAD |
|
|
CA402344077 rs1389484389 |
1017 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1331972294 CA402344060 |
1019 | I>T | No |
ClinGen gnomAD |
|
|
CA8949277 rs768835666 |
1021 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA402344018 rs1191711906 |
1026 | S>P | No |
ClinGen TOPMed |
|
|
rs1164926126 CA402343988 |
1030 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1037 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253839839 CA402343757 |
1038 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA402343702 rs1225405739 |
1046 | G>E | No |
ClinGen gnomAD |
|
|
CA8949255 rs535730878 |
1047 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402343690 rs1361044131 |
1048 | L>P | No |
ClinGen TOPMed |
|
|
rs746885334 CA8949254 |
1051 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1237631899 CA402343673 |
1051 | S>P | No |
ClinGen gnomAD |
|
|
rs777731844 CA8949253 |
1052 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949252 RCV000730514 rs758172811 |
1053 | H>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs560455554 CA299765823 |
1055 | R>K | No |
ClinGen Ensembl |
|
|
rs752551701 CA8949251 |
1056 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754526356 CA8949249 |
1058 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA299765785 rs936848208 |
1059 | H>R | No |
ClinGen gnomAD |
|
|
rs1223082350 CA402343609 |
1062 | D>G | No |
ClinGen gnomAD |
|
|
CA8949245 rs750942783 |
1062 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA402343580 rs1216538532 |
1066 | P>L | No |
ClinGen gnomAD |
|
|
rs1229849956 CA402343583 |
1066 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8949243 rs768198385 |
1068 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1568153124 CA402343553 |
1070 | P>L | No |
ClinGen Ensembl |
|
|
rs762263988 CA8949242 |
1070 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763038687 CA8949239 |
1072 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764534620 CA8949240 COSM1471123 |
1072 | Q>R | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA402343535 rs1233130010 |
1073 | Y>C | No |
ClinGen gnomAD |
|
|
rs369286199 CA299765710 |
1074 | Y>H | No |
ClinGen ESP gnomAD |
|
|
rs1271449400 CA402343517 |
1076 | L>M | No |
ClinGen gnomAD |
|
|
rs1599566182 CA402343306 |
1081 | F>V | No |
ClinGen Ensembl |
|
|
CA8949219 rs765558018 |
1082 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1082 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771017938 CA8949216 |
1085 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181105473 CA402343276 |
1086 | L>F | No |
ClinGen gnomAD |
|
|
rs748035716 CA8949215 |
1090 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA402343242 rs1204792835 |
1091 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402343239 rs1436797065 |
1091 | L>W | No |
ClinGen gnomAD |
|
|
CA8949214 rs72918350 |
1093 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs979278504 CA299764928 |
1098 | G>V | No |
ClinGen Ensembl |
|
|
rs1599566024 CA402343159 |
1099 | V>I | No |
ClinGen Ensembl |
|
|
CA299764927 rs368077462 |
1100 | T>R | No |
ClinGen ESP TOPMed |
|
|
CA299764926 rs1037521116 |
1103 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1599565969 CA402343106 |
1104 | T>P | No |
ClinGen Ensembl |
|
|
rs1398331624 CA402343052 |
1108 | A>V | No |
ClinGen gnomAD |
|
|
CA402343049 rs1279711396 |
1109 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA402343033 rs1599565915 |
1110 | H>P | No |
ClinGen Ensembl |
|
|
rs1452967088 CA402342979 |
1115 | S>N | No |
ClinGen TOPMed |
|
|
CA8949205 rs764715572 |
1119 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8949204 rs758682538 |
1120 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402342908 rs1177527928 |
1121 | K>R | No |
ClinGen gnomAD |
|
|
CA402342900 rs1203437133 |
1122 | L>I | No |
ClinGen gnomAD |
|
|
rs753035594 CA8949203 |
1124 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1129 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760739462 CA8949178 |
1131 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA299764705 rs960863831 |
1131 | I>T | No |
ClinGen Ensembl |
|
|
CA8949177 rs750451013 |
1132 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1196176370 CA402342725 |
1133 | V>L | No |
ClinGen gnomAD |
|
|
CA402342711 rs1429746787 |
1134 | S>N | No |
ClinGen gnomAD |
|
|
CA299764684 rs928043854 |
1136 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1012101862 CA299764683 |
1137 | P>T | No |
ClinGen TOPMed |
|
|
CA402342665 rs775323310 |
1138 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949173 rs769682760 |
1138 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs775323310 CA8949174 |
1138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949171 rs776414813 |
1141 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770637062 CA8949170 |
1142 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402342615 rs771510931 |
1143 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949166 rs748656204 |
1144 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1147 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886276412 CA299764594 |
1149 | W>C | No |
ClinGen TOPMed |
|
|
CA8949163 rs754267694 |
1149 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1463142683 CA402342500 |
1152 | A>G | No |
ClinGen gnomAD |
|
|
CA8949162 rs780401402 |
1152 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402342496 rs997660046 |
1153 | L>F | No |
ClinGen TOPMed |
|
|
CA299764583 rs997660046 |
1153 | L>V | No |
ClinGen TOPMed |
|
|
rs900190158 CA299764581 |
1154 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA299764578 rs747819870 |
1155 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1157 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949159 rs767595730 |
1157 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201959853 CA299764560 |
1158 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs587776940 CA8949157 |
1161 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1254415183 CA402342395 |
1162 | E>K | No |
ClinGen gnomAD |
|
|
CA402342371 rs1221428043 |
1163 | Q>H | No |
ClinGen TOPMed |
|
|
CA8949156 rs759405296 |
1163 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA402342367 rs1481048175 |
1164 | P>A | No |
ClinGen gnomAD |
|
|
rs1257526885 CA402342362 |
1164 | P>L | No |
ClinGen gnomAD |
|
|
CA402342369 rs1481048175 |
1164 | P>S | No |
ClinGen gnomAD |
|
|
rs61744077 CA8949155 |
1165 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402342327 rs1474104324 |
1167 | F>L | No |
ClinGen TOPMed |
|
|
CA8949150 rs747668301 |
1169 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA402342309 rs747668301 |
1169 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402342290 rs1331891468 COSM3772565 |
1170 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8949149 rs774835244 |
1171 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402342275 rs1400525515 |
1171 | H>P | No |
ClinGen gnomAD |
|
|
CA402342274 rs1400525515 |
1171 | H>R | No |
ClinGen gnomAD |
|
|
CA8949147 rs749810129 |
1174 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1178 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA299764521 rs181792390 |
1178 | Q>E | No |
ClinGen 1000Genomes |
|
|
CA402342173 rs1397395232 |
1180 | M>V | No |
ClinGen gnomAD |
|
|
CA402342162 rs1183352101 |
1181 | Q>P | No |
ClinGen gnomAD |
|
|
rs1166280208 CA402342127 |
1184 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8949146 rs780348341 |
1186 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1186 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529882920 CA8949145 |
1186 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746074230 CA8949144 |
1187 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781321117 CA8949143 |
1189 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8949141 rs751759759 |
1190 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1384287854 CA402341984 |
1194 | K>E | No |
ClinGen TOPMed |
|
|
rs908523439 CA402341871 CA299764188 |
1197 | L>F | No |
ClinGen TOPMed |
|
|
rs758515302 CA8949122 |
1200 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1401058638 CA402341819 |
1202 | D>E | No |
ClinGen gnomAD |
|
|
rs764221778 CA8949121 |
1203 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM188232 rs764221778 CA8949119 |
1203 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8949117 rs767330132 |
1205 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8949115 rs539209051 |
1208 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539209051 CA8949116 |
1208 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8949114 rs763623673 |
1209 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8949112 rs775986925 |
1213 | I>L | No |
ClinGen ExAC TOPMed |
|
|
CA299764108 rs770129197 |
1213 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949111 rs770129197 |
1213 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402341734 rs1452531483 |
1217 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1221 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434039787 CA402341692 |
1224 | E>K | No |
ClinGen TOPMed |
|
|
CA402341671 rs1214126005 |
1227 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402341670 rs1214126005 |
1227 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA299764082 rs556565796 |
1228 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402341654 rs1292886679 |
1230 | T>S | No |
ClinGen TOPMed |
|
|
rs756064897 CA8949101 |
1231 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs756064897 CA8949102 |
1231 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA402341360 rs1414269313 |
1235 | A>D | No |
ClinGen gnomAD |
|
|
rs1425411274 CA402341363 |
1235 | A>S | No |
ClinGen gnomAD |
|
|
rs1181031199 CA402341348 |
1237 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1234826157 CA402341343 |
1237 | T>I | No |
ClinGen TOPMed |
|
|
CA299762860 rs867091699 |
1238 | V>A | No |
ClinGen Ensembl |
|
|
rs1346371913 CA402341304 |
1243 | S>A | No |
ClinGen TOPMed |
|
|
rs1471631349 CA402341299 |
1244 | I>V | No |
ClinGen gnomAD |
|
|
rs1034556998 CA299762849 |
1249 | S>A | No |
ClinGen gnomAD |
|
|
CA402341250 rs1255916696 |
1250 | Q>H | No |
ClinGen TOPMed |
|
|
CA402341242 rs78690150 |
1252 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8949073 COSM3403541 rs186446511 |
1252 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 1253 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216113203 CA402341222 |
1255 | I>T | No |
ClinGen gnomAD |
|
|
rs1025374194 CA299762806 |
1258 | E>G | No |
ClinGen TOPMed |
|
|
rs773771880 CA8949070 |
1261 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767971761 CA8949069 |
1264 | A>T | No |
ClinGen ExAC |
|
|
rs1555673890 CA629481196 |
1264 | A>Y | No |
ClinGen Ensembl |
|
|
rs1568148936 CA402341154 |
1266 | T>A | No |
ClinGen Ensembl |
|
|
rs1327937071 CA402341143 |
1267 | P>H | No |
ClinGen gnomAD |
|
|
CA299762782 rs774592573 |
1268 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1459411448 CA402341142 |
1268 | D>N | No |
ClinGen gnomAD |
|
|
CA299762779 rs1036019427 |
1270 | A>T | No |
ClinGen TOPMed |
|
|
CA402341097 rs1364365770 |
1273 | K>E | No |
ClinGen gnomAD |
|
|
CA402341090 rs1599556709 |
1274 | A>T | No |
ClinGen Ensembl |
|
|
rs773088550 CA299761921 |
1275 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8949044 rs773088550 |
1275 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778569508 CA8949041 |
1277 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1189982627 CA402341059 |
1279 | K>E | No |
ClinGen gnomAD |
|
|
CA402341049 rs1489522902 |
1280 | L>P | No |
ClinGen gnomAD |
|
|
CA299761905 rs377030279 |
1283 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA402341017 rs377030279 |
1283 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1416434773 CA402341004 |
1284 | P>A | No |
ClinGen TOPMed |
|
|
rs779751217 CA8949038 |
1285 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299211030 CA402340949 |
1288 | R>K | No |
ClinGen gnomAD |
|
|
rs750989043 CA402340886 |
1293 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750989043 CA8949036 |
1293 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757564770 CA8949034 |
1296 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599556483 CA402340840 |
1296 | H>P | No |
ClinGen Ensembl |
|
|
rs866853735 CA299761853 |
1297 | Q>* | No |
ClinGen Ensembl |
|
|
CA402340826 rs1599556468 |
1297 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1297 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949033 rs370279838 |
1298 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1299 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA299761843 rs911532531 |
1299 | L>V | No |
ClinGen Ensembl |
|
|
rs1599556425 CA402340785 |
1300 | V>G | No |
ClinGen Ensembl |
|
|
CA402340774 rs1392575107 |
1301 | T>I | No |
ClinGen gnomAD |
|
|
CA402340783 rs1599556411 |
1301 | T>P | No |
ClinGen Ensembl |
|
|
rs752880947 CA8949030 |
1305 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs534935599 CA299761787 |
1306 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs534935599 CA299761782 |
1306 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs765327583 CA8949029 |
1307 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8949028 rs199712716 |
1307 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765327583 CA402340704 |
1307 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1000037657 CA402340661 |
1311 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8949027 rs773141353 |
1311 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA299761735 rs372400629 |
1312 | W>G | No |
ClinGen ESP TOPMed |
|
|
CA299761726 rs986592823 RCV000760704 |
1313 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA299761712 rs267605189 |
1316 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1319 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949025 rs761644148 |
1319 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1319 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1320 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8949024 rs201983775 |
1322 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402340504 rs148641800 |
1322 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8949022 rs143970247 |
1323 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1014157554 CA299761689 |
1323 | P>S | No |
ClinGen Ensembl |
|
|
rs1410796384 CA402340444 |
1327 | Y>C | No |
ClinGen TOPMed |
|
|
CA8949019 rs745308717 |
1328 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA402340319 rs1377017614 |
1330 | P>H | No |
ClinGen gnomAD |
|
|
rs1408746832 CA402340301 |
1333 | G>D | No |
ClinGen gnomAD |
|
|
CA402340287 rs1164250692 |
1335 | I>T | No |
ClinGen gnomAD |
|
|
CA402340278 rs1367006382 |
1337 | R>G | No |
ClinGen gnomAD |
|
|
CA402340269 rs1180747686 |
1338 | R>K | No |
ClinGen gnomAD |
|
|
rs776251131 CA8949001 CA8949000 |
1338 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8948999 rs770312938 |
1339 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402340238 rs1436046962 |
1342 | S>N | No |
ClinGen gnomAD |
|
|
CA402340236 rs1269363241 |
1342 | S>R | No |
ClinGen gnomAD |
|
|
CA8948997 rs778087221 |
1344 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402340225 rs1378417806 |
1344 | A>V | No |
ClinGen TOPMed |
|
|
rs1219396841 CA402340224 |
1345 | H>N | No |
ClinGen gnomAD |
|
|
CA8948994 rs201968905 |
1346 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1348 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402340193 rs1353924182 |
1349 | L>F | No |
ClinGen gnomAD |
|
|
rs1372937171 CA402340173 |
1352 | M>T | No |
ClinGen gnomAD |
|
|
rs1283493619 CA402340176 |
1352 | M>V | No |
ClinGen TOPMed |
|
|
CA8948992 rs766512091 |
1353 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA402340154 rs756098385 |
1354 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368134723 CA8948990 |
1355 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374649165 CA299760449 |
1357 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8948988 rs775481546 |
1358 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379880801 CA402340117 |
1361 | D>H | No |
ClinGen gnomAD |
|
|
CA299760432 rs559185102 |
1362 | F>L | No |
ClinGen 1000Genomes |
|
|
rs541452152 CA299760431 |
1363 | H>N | No |
ClinGen 1000Genomes |
|
|
rs770493500 CA8948984 |
1364 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473640828 CA402340089 |
1365 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402340076 rs1378210882 |
1367 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8948983 rs746441691 |
1368 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA402340060 rs1176961877 |
1369 | A>S | No |
ClinGen TOPMed |
|
|
CA402340059 rs1358655268 |
1369 | A>V | No |
ClinGen TOPMed |
|
|
rs772778341 CA8948982 |
1370 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948981 rs368438786 |
1371 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402340049 rs748634612 |
1371 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748634612 CA8948980 |
1371 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA8948979 rs779291137 |
1377 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1445842010 CA402340007 |
1377 | S>T | No |
ClinGen TOPMed |
|
|
rs1284852523 CA402339990 |
1378 | E>G | No |
ClinGen gnomAD |
|
|
rs749548903 CA402339976 |
1379 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1346513172 CA402339978 |
1379 | G>R | No |
ClinGen gnomAD |
|
|
CA8948977 rs749548903 |
1379 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA402339942 rs1233182316 |
1382 | E>G | No |
ClinGen gnomAD |
|
|
rs780080424 CA8948976 |
1383 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8948972 rs758455914 |
1387 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8948967 rs760364143 |
1389 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs776354551 CA8948968 |
1389 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8948966 rs760364143 |
1389 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8948965 rs551488784 |
1390 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
rs1322402625 CA402339824 |
1391 | L>Q | No |
ClinGen gnomAD |
|
|
rs1458477975 CA402339822 |
1392 | T>A | No |
ClinGen TOPMed |
|
|
CA402339758 rs200759465 |
1397 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8948963 rs200759465 |
1397 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1398 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443737412 CA402339738 |
1398 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1568145102 CA402339729 RCV000723171 |
1399 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA299760271 rs773767816 |
1401 | V>L | No |
ClinGen Ensembl |
|
|
CA299760273 rs773767816 |
1401 | V>M | No |
ClinGen Ensembl |
|
|
rs1599546471 CA402339115 |
1403 | L>P | No |
ClinGen Ensembl |
|
|
CA8948939 rs746105575 |
1404 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8948938 rs374012879 |
1405 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771145899 CA8948937 |
1406 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747155722 CA8948936 |
1407 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953377599 CA299758164 |
1408 | I>M | No |
ClinGen TOPMed |
|
|
CA8948935 rs369984684 |
1408 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8948933 rs753786827 |
1412 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8948931 rs755889304 |
1413 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8948932 rs779746112 |
1413 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1599546286 CA402338967 |
1414 | E>K | No |
ClinGen Ensembl |
|
|
CA8948929 rs767091703 |
1415 | N>Y | No |
ClinGen ExAC TOPMed |
|
|
rs761448533 CA8948928 |
1417 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751126069 CA8948927 |
1419 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020010664 CA299758080 |
1422 | Y>C | No |
ClinGen TOPMed |
|
|
rs371495580 CA8948925 |
1422 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776021923 CA8948924 |
1423 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8948920 rs369111537 |
1426 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1730691 CA8948922 rs369111537 |
1426 | L>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1329572416 CA402338785 |
1429 | H>R | No |
ClinGen TOPMed |
|
|
CA8948919 rs202065249 |
1430 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8948918 rs202065249 |
1430 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402338775 rs1296377084 |
1431 | D>N | No |
ClinGen gnomAD |
|
|
CA8948917 rs772155087 |
1432 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345900687 CA402338759 |
1433 | H>Y | No |
ClinGen TOPMed |
|
|
rs749205486 CA8948916 |
1434 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1422409571 CA402338747 |
1435 | L>I | No |
ClinGen gnomAD |
|
|
rs779984615 CA8948915 |
1438 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8948914 rs755868058 |
1440 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs745728397 CA8948913 |
1442 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1221544587 CA402338671 |
1444 | D>A | No |
ClinGen gnomAD |
|
|
CA8948885 rs746682542 |
1444 | D>N | No |
ClinGen ExAC |
|
|
CA8948884 rs777421823 |
1446 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA402338642 rs567955471 |
1447 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567955471 CA8948883 |
1447 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8948882 rs752316096 |
1448 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA402338620 rs1599536598 |
1448 | E>G | No |
ClinGen Ensembl |
|
|
CA402338605 rs778267082 |
1449 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402338609 rs1599536577 |
1449 | Y>D | No |
ClinGen Ensembl |
|
|
CA8948881 rs778267082 |
1449 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296132524 CA402338589 |
1450 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1451 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755585404 CA8948880 |
1452 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA402338562 rs755585404 |
1452 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs550924483 CA8948879 |
1454 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8948878 rs766875773 COSM188230 |
1454 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA402338531 rs766875773 |
1454 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402338525 rs1174912014 |
1455 | I>F | No |
ClinGen gnomAD |
|
|
CA299754946 rs761064074 |
1456 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402338445 rs1424827834 |
1460 | Q>R | No |
ClinGen gnomAD |
|
|
CA8948876 rs750614729 |
1462 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003017426 CA299754923 |
1463 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1466 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767849521 CA8948875 |
1467 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs951246520 CA299754920 |
1467 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1182592458 CA402338344 |
1468 | Q>R | No |
ClinGen gnomAD |
|
|
rs761926136 CA8948874 |
1470 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs997723404 CA299754917 |
1471 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1319858041 CA402338267 |
1474 | H>Y | No |
ClinGen gnomAD |
|
|
rs768691121 CA8948872 |
1475 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA402338236 rs1226386110 |
1476 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8948871 rs759500686 |
1477 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402338180 rs1452825705 |
1481 | S>T | No |
ClinGen gnomAD |
|
|
rs898425710 CA299754875 |
1483 | Q>K | No |
ClinGen gnomAD |
|
|
rs1401633377 CA402338132 |
1485 | D>N | No |
ClinGen gnomAD |
|
|
CA299754870 rs1017656205 |
1486 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1167757417 CA402338094 |
1487 | T>I | No |
ClinGen gnomAD |
|
|
rs1460787313 CA402338083 |
1488 | D>V | No |
ClinGen gnomAD |
|
|
rs771809666 CA8948866 |
1490 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1490 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747726931 CA8948865 |
1491 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA402337995 rs1327239916 |
1493 | K>E | No |
ClinGen gnomAD |
|
|
CA8948844 rs771727510 |
1494 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8948843 rs201631971 |
1494 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768286664 CA8948841 |
1495 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1317968076 CA402337970 |
1497 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8948840 rs748874666 |
1499 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA402337931 rs370776793 |
1501 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402337913 rs1423852376 |
1502 | K>N | No |
ClinGen gnomAD |
|
|
CA299752370 rs781643115 |
1503 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781643115 CA8948836 |
1503 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1504 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757513321 CA8948835 |
1505 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751816092 CA8948834 |
1506 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758611855 CA8948832 |
1507 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948833 rs764231107 |
1507 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462381114 CA402337837 |
1508 | P>L | No |
ClinGen TOPMed |
|
|
rs760701597 CA8948829 |
1510 | L>F | No |
ClinGen ExAC gnomAD |
|
| VAR_036525 | 1511 | A>T | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA402337789 rs1218370856 |
1513 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1516 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402337735 rs369136227 |
1517 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775178422 CA8948822 |
1517 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8948821 rs769144205 |
1518 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402337713 rs1599529370 |
1519 | V>L | No |
ClinGen Ensembl |
|
|
rs757640985 CA402337655 |
1524 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757640985 CA8948818 |
1524 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402337656 rs757640985 |
1524 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340551157 CA402337630 |
1526 | V>A | No |
ClinGen gnomAD |
|
|
CA8948816 rs778094633 |
1526 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8948815 rs529503518 |
1527 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754958549 CA8948812 |
1529 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750383421 CA8948811 |
1530 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767422149 CA8948810 |
1532 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA299752232 rs147859828 |
1535 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs1425782325 CA402337410 |
1543 | L>V | No |
ClinGen TOPMed |
|
|
rs1339060037 CA402337359 |
1546 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1268642926 CA402337344 |
1547 | Q>K | No |
ClinGen gnomAD |
|
|
rs1450396643 CA402337320 |
1549 | R>G | No |
ClinGen gnomAD |
|
|
CA299751086 rs930409896 |
1550 | T>S | No |
ClinGen Ensembl |
|
|
rs1220446900 CA402337084 |
1551 | A>V | No |
ClinGen gnomAD |
|
|
CA8948777 rs768810758 |
1553 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs749496135 CA402337071 |
1554 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900212390 CA402337069 |
1554 | R>L | No |
ClinGen Ensembl |
|
|
rs900212390 CA299751043 |
1554 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs749496135 CA8948776 |
1554 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406529418 CA402337066 |
1555 | E>V | No |
ClinGen gnomAD |
|
|
rs1038895723 CA299751020 |
1556 | S>C | No |
ClinGen Ensembl |
|
|
rs1300143578 CA402337040 |
1559 | V>I | No |
ClinGen TOPMed |
|
|
rs1227873728 CA402337031 |
1560 | A>D | No |
ClinGen TOPMed |
|
|
rs568568831 CA8948771 |
1569 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402336965 rs752489324 COSM1290832 |
1570 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752489324 CA8948770 |
1570 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA402336954 rs1202126061 |
1572 | Q>E | No |
ClinGen gnomAD |
|
|
rs759148474 CA8948768 |
1573 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA402336943 rs1268551170 |
1573 | Y>C | No |
ClinGen gnomAD |
|
|
rs753483404 CA8948767 |
1575 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402336927 rs1261427390 COSM988450 |
1576 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8948766 rs368539419 |
1576 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553484474 CA8948765 |
1580 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000522150 rs1555671254 |
1581 | T>missing | No |
ClinVar dbSNP |
|
|
CA402336889 rs1266171640 |
1581 | T>K | No |
ClinGen gnomAD |
|
|
rs1345938343 CA402336883 |
1582 | L>R | No |
ClinGen gnomAD |
|
|
rs772625462 CA8948763 |
1583 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA402336880 rs772625462 |
1583 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs535029628 CA8948764 |
1583 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1588 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762287177 CA8948762 |
1588 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1592 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979130683 CA299750974 |
1595 | Q>R | No |
ClinGen gnomAD |
|
|
CA8948757 rs769998231 |
1598 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244505539 CA402347245 |
1606 | G>V | No |
ClinGen TOPMed |
|
|
CA402347213 rs1599502205 |
1608 | H>Q | No |
ClinGen Ensembl |
|
|
CA402347217 rs1426923295 |
1608 | H>R | No |
ClinGen gnomAD |
|
|
rs1387204877 CA402347197 |
1609 | K>N | No |
ClinGen gnomAD |
|
|
CA402347181 rs1599502182 |
1610 | N>K | No |
ClinGen Ensembl |
|
|
rs917674036 CA299719616 |
1611 | E>K | No |
ClinGen TOPMed |
|
|
rs770199550 CA8948736 |
1612 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8948735 rs746065186 |
1613 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8948733 rs776889343 |
1614 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778845669 CA8948730 |
1618 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299719570 rs373141219 |
1621 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373141219 CA402347041 |
1621 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs566219944 CA8948729 |
1621 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8948728 rs749166354 |
1623 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8948726 rs755807871 |
1628 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767038738 CA8948724 |
1631 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1185099762 CA402346891 |
1637 | L>R | No |
ClinGen TOPMed |
|
|
rs756732050 CA8948723 |
1638 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA402346882 rs1367671037 |
1639 | I>V | No |
ClinGen gnomAD |
|
|
CA8948720 rs763351795 |
1642 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1185353140 CA402346858 |
1642 | A>T | No |
ClinGen gnomAD |
|
|
rs1251020021 CA402346798 |
1647 | E>K | No |
ClinGen gnomAD |
|
|
rs1194989082 CA402346777 |
1648 | N>T | No |
ClinGen gnomAD |
|
|
rs776045617 CA8948719 |
1650 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532605075 CA8948718 |
1651 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000598803 rs1555668791 |
1652 | A>* | No |
ClinVar dbSNP |
|
|
CA402346590 rs1287192440 |
1653 | L>S | No |
ClinGen gnomAD |
|
|
CA299718185 rs376511683 |
1654 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA402346537 rs1227036004 |
1657 | Y>C | No |
ClinGen gnomAD |
|
|
CA8948703 rs368900129 |
1662 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8948702 rs758984085 |
1662 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753214468 CA8948701 |
1663 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA402346392 rs1474201689 |
1668 | V>G | No |
ClinGen TOPMed |
|
|
CA8948697 rs754252738 |
1668 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA299718137 rs1057250433 |
1670 | I>V | No |
ClinGen TOPMed |
|
|
rs371927126 CA8948694 |
1672 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772009526 CA8948693 |
1673 | F>S | No |
ClinGen ExAC |
|
|
CA8948691 rs368012788 |
1676 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389174159 CA402346314 |
1677 | V>A | No |
ClinGen TOPMed |
|
|
rs936499337 CA299718077 |
1680 | V>I | No |
ClinGen gnomAD |
|
|
rs745726464 CA8948689 |
1682 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM161953 rs1398320709 CA402346275 |
1683 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs746611209 CA8948686 |
1686 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8948685 rs375463159 |
1686 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1223264505 CA402346246 |
1687 | H>L | No |
ClinGen gnomAD |
|
|
CA8948684 rs757797464 |
1689 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779632392 CA8948682 |
1690 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402346226 rs1318587009 |
1691 | R>G | No |
ClinGen gnomAD |
|
|
CA8948680 rs754304137 |
1692 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs766622192 CA8948679 |
1696 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA402346185 rs1413706863 |
1697 | C>R | No |
ClinGen gnomAD |
|
|
CA402346174 rs1422734045 |
1698 | I>T | No |
ClinGen gnomAD |
|
|
CA402346177 rs1283217730 |
1698 | I>V | No |
ClinGen TOPMed |
|
|
CA402346159 rs1444938563 |
1700 | I>T | No |
ClinGen TOPMed |
|
|
rs760993353 CA8948678 |
1701 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA402346155 rs1169310600 |
1701 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA299716315 rs982203129 |
1704 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1705 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402345752 rs1442654655 |
1719 | T>I | No |
ClinGen gnomAD |
|
|
CA402345726 rs1305811200 |
1722 | K>* | No |
ClinGen gnomAD |
|
|
rs375963773 CA8948653 |
1722 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365692737 CA402345703 |
1723 | N>S | No |
ClinGen gnomAD |
|
|
rs1365692737 CA402345705 |
1723 | N>T | No |
ClinGen gnomAD |
|
|
rs1163435459 CA402345696 |
1724 | S>G | No |
ClinGen gnomAD |
|
|
rs766207973 CA8948651 |
1727 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766207973 CA402345652 |
1727 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948649 rs773048874 |
1729 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8948647 rs747772457 |
1735 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747772457 CA8948648 |
1735 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1201907159 CA402345553 |
1736 | P>H | No |
ClinGen gnomAD |
|
|
rs201509640 CA8948646 |
1737 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768237272 CA8948645 |
1738 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780361493 CA8948644 |
1739 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8948643 rs780361493 |
1739 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402345508 rs1224212439 |
1741 | A>V | No |
ClinGen gnomAD |
|
|
rs756643630 CA8948642 |
1742 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1345737435 CA402345487 |
1744 | I>M | No |
ClinGen gnomAD |
|
|
CA8948640 rs781595923 |
1744 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8948639 rs757506077 |
1745 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299716263 rs951226268 |
1745 | Q>R | No |
ClinGen TOPMed |
|
|
rs1468071648 CA402345451 |
1750 | V>M | No |
ClinGen TOPMed |
|
|
rs900905959 CA299716246 |
1751 | V>E | No |
ClinGen TOPMed |
|
|
CA299716247 rs997958397 |
1751 | V>M | No |
ClinGen TOPMed |
|
|
CA402345432 rs1405886847 |
1753 | F>L | No |
ClinGen TOPMed |
|
|
rs753817522 CA8948635 |
1755 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs557455562 CA299716245 |
1757 | D>H | No |
ClinGen Ensembl |
|
|
CA402345363 rs1311751638 |
1759 | S>G | No |
ClinGen TOPMed |
|
|
CA299716219 rs774484850 |
1760 | D>Y | No |
ClinGen Ensembl |
|
|
CA402345309 rs1179009821 |
1761 | M>I | No |
ClinGen gnomAD |
|
|
rs1047449075 CA299716213 |
1761 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402345293 rs1599489572 |
1762 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1764 | M>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201267515 CA299716202 |
1766 | L>P | No |
ClinGen Ensembl |
|
| rs369940983 | 1769 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369940983 CA402345027 |
1769 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774900019 CA8948609 |
1772 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777063993 CA8948606 |
1777 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948605 rs771289617 |
1778 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs747438358 CA8948604 |
1780 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8948603 rs778090513 |
1781 | P>S | No |
ClinGen ExAC |
|
|
CA402344944 rs1460858428 |
1782 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1783 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8948601 rs778882158 |
1785 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755031204 CA8948599 |
1785 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8948600 rs778882158 |
1785 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555667231 RCV000521202 |
1794 | L>missing | No |
ClinVar dbSNP |
|
|
CA402344858 rs1162592269 |
1796 | L>V | No |
ClinGen TOPMed |
|
|
rs1411482327 CA402344848 |
1797 | T>I | No |
ClinGen TOPMed |
|
|
CA402344843 rs1255268891 |
1798 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757251253 CA8948596 |
1801 | L>V | No |
ClinGen ExAC |
|
|
rs763947617 CA402344821 |
1802 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763947617 CA8948594 |
1802 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1274919516 CA402344818 |
1802 | E>V | No |
ClinGen gnomAD |
|
|
rs1203929656 CA402344813 |
1803 | P>A | No |
ClinGen gnomAD |
|
|
CA402344804 rs1339483494 |
1804 | D>A | No |
ClinGen gnomAD |
|
|
CA8948593 rs758014247 |
1805 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948592 rs752340942 |
1806 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1807 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340559081 CA402344781 |
1807 | I>M | No |
ClinGen TOPMed |
|
|
rs764666107 CA8948591 |
1807 | I>T | No |
ClinGen ExAC |
|
|
rs1340373546 CA402344780 |
1808 | L>M | No |
ClinGen gnomAD |
|
|
rs1311100994 CA402344766 |
1809 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1393506239 CA402344759 |
1810 | P>L | No |
ClinGen gnomAD |
|
|
rs1428018967 CA402344750 |
1812 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1812 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8948588 rs766928203 |
1813 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1813 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377682689 CA402344735 |
1814 | F>S | No |
ClinGen TOPMed |
|
|
rs1164266555 CA402344726 |
1815 | C>S | No |
ClinGen gnomAD |
|
|
rs1225940289 CA402344714 |
1817 | H>N | No |
ClinGen TOPMed |
|
|
CA8948586 rs773600008 |
1817 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA402344697 rs1367810444 |
1819 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772433396 CA8948585 |
1819 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs748332643 CA8948584 |
1830 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774570206 CA8948583 |
1831 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536773034 CA8948581 |
1832 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8948582 rs768759926 |
1832 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA402344574 rs1471157038 |
1837 | L>F | No |
ClinGen TOPMed |
|
|
CA402343943 rs1461655489 |
1842 | A>T | No |
ClinGen TOPMed |
|
|
CA8948564 rs367619633 |
1842 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1843 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232750336 CA402343926 |
1844 | Q>R | No |
ClinGen gnomAD |
|
|
CA299712209 rs763662171 |
1845 | L>F | No |
ClinGen Ensembl |
|
|
rs1389270695 CA402343896 |
1849 | E>G | No |
ClinGen gnomAD |
|
|
CA402343889 rs1599479322 |
1850 | C>G | No |
ClinGen Ensembl |
|
|
CA402343856 rs1455455939 |
1854 | T>I | No |
ClinGen gnomAD |
|
|
CA299712181 rs1023469699 |
1855 | L>V | No |
ClinGen Ensembl |
|
|
CA402343847 rs1404028043 |
1856 | R>K | No |
ClinGen gnomAD |
|
|
rs1172830032 CA402343843 |
1857 | A>P | No |
ClinGen gnomAD |
|
|
CA402343839 rs1210711478 |
1857 | A>V | No |
ClinGen TOPMed |
|
|
rs778548949 CA8948555 |
1859 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402343832 rs778548949 |
1859 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402343829 rs1450706583 |
1859 | G>V | No |
ClinGen gnomAD |
|
|
CA402343823 rs1184651935 |
1860 | C>F | No |
ClinGen TOPMed |
|
|
rs755556298 CA8948551 |
1862 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1279738280 CA402343805 |
1863 | P>L | No |
ClinGen gnomAD |
|
|
CA299712157 rs1035537922 |
1863 | P>T | No |
ClinGen TOPMed |
|
|
CA402343472 rs1272061911 VAR_036526 COSM33654 |
1865 | C>Y | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
CA402343461 rs1229227556 |
1867 | Q>K | No |
ClinGen gnomAD |
|
|
rs751998000 CA8948547 |
1868 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs762207905 CA402343452 CA402343453 |
1868 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764322574 CA8948546 |
1869 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA299712109 COSM3672676 rs370720753 |
1873 | E>* | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8948542 rs370720753 |
1873 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8948539 rs748003451 |
1875 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402343415 rs748003451 |
1875 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402343410 rs1474043173 |
1876 | V>M | No |
ClinGen gnomAD |
|
|
CA299712057 rs567139217 |
1877 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8948534 rs755752825 |
1880 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs748945271 CA8948536 |
1880 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755752825 CA8948535 |
1880 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402343381 rs1206076654 |
1881 | S>P | No |
ClinGen gnomAD |
|
|
rs921765552 CA402343363 |
1884 | L>F | No |
ClinGen TOPMed |
|
|
CA299712025 rs921765552 |
1884 | L>V | No |
ClinGen TOPMed |
|
|
rs1568116604 CA402343352 |
1885 | L>F | No |
ClinGen Ensembl |
|
|
rs1568116597 CA402343349 |
1886 | S>T | No |
ClinGen Ensembl |
|
|
rs1338419754 CA402343344 |
1887 | D>H | No |
ClinGen gnomAD |
|
|
CA8948530 rs538625008 |
1888 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA299711044 rs760734107 |
1890 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948502 rs760734107 |
1890 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402343160 rs138221907 |
1894 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372631564 CA8948498 COSM257228 |
1894 | I>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140331614 CA299711003 |
1895 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140331614 CA8948497 |
1895 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286086047 CA402343096 |
1898 | S>P | No |
ClinGen gnomAD |
|
|
CA402343085 rs1220548409 |
1899 | D>N | No |
ClinGen gnomAD |
|
|
CA8948495 rs376947065 |
1900 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34545102 CA402343047 |
1900 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568115473 CA402343060 |
1900 | F>V | No |
ClinGen Ensembl |
|
|
rs954756857 CA402343029 |
1901 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746556448 CA8948493 |
1901 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs760768451 | 1902 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457053057 CA402343022 |
1902 | Y>N | No |
ClinGen gnomAD |
|
|
rs777398434 CA8948491 |
1904 | L>F | No |
ClinGen ExAC |
|
|
rs1176388681 CA402342970 |
1905 | R>Q | No |
ClinGen gnomAD |
|
|
rs1433955913 CA402342939 |
1907 | S>Y | No |
ClinGen gnomAD |
|
|
CA8948489 rs748625145 |
1908 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA402342907 rs1452581235 |
1909 | M>T | No |
ClinGen gnomAD |
|
|
rs1189538286 CA402342917 |
1909 | M>V | No |
ClinGen gnomAD |
|
|
CA8948487 rs755230600 |
1910 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8948488 rs779434039 |
1910 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1917 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402342755 rs1399915095 |
1920 | W>R | No |
ClinGen TOPMed |
|
|
CA299710942 rs977677513 |
1921 | S>N | No |
ClinGen TOPMed |
|
|
rs780245388 CA8948485 |
1922 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780245388 CA299710923 |
1922 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780245388 CA402342722 |
1922 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1926 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402342574 rs1225576191 |
1931 | L>S | No |
ClinGen TOPMed |
|
|
rs750545436 CA8948483 |
1934 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8948480 rs775345075 |
1939 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1316329110 CA402342459 |
1939 | I>T | No |
ClinGen TOPMed |
|
|
CA8948481 rs762904160 |
1939 | I>V | No |
ClinGen ExAC |
|
|
CA8948479 rs765081514 |
1940 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402342372 rs1466800275 |
1944 | T>I | No |
ClinGen gnomAD |
|
|
rs1174142163 CA402342326 |
1947 | A>V | No |
ClinGen gnomAD |
|
|
CA299710872 rs1013120364 |
1948 | Q>R | No |
ClinGen Ensembl |
|
|
CA8948475 rs377120710 |
1951 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8948474 rs772879937 |
1951 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA402342234 rs1599475579 |
1955 | K>E | No |
ClinGen Ensembl |
|
|
CA402342214 rs1259465679 |
1956 | T>I | No |
ClinGen gnomAD |
|
|
rs528443920 CA402342089 |
1961 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1367726599 CA402342061 |
1963 | S>* | No |
ClinGen gnomAD |
|
|
rs760613861 CA8948441 |
1964 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1966 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402341970 rs1455457286 |
1970 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs993104799 CA299710280 |
1971 | P>L | No |
ClinGen Ensembl |
|
|
rs750230003 CA8948440 |
1977 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948439 rs767329258 |
1978 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763614919 CA8948436 |
1980 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8948418 rs763521313 |
1981 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs377447365 CA8948417 |
1982 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402341621 rs1203659819 |
1983 | Q>R | No |
ClinGen gnomAD |
|
|
rs1189693692 CA402341592 |
1987 | Y>* | No |
ClinGen TOPMed |
|
|
CA8948414 rs760003456 |
1992 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777008903 CA299708662 |
1994 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1995 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8948412 rs377616391 |
1995 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1161459856 CA402341531 |
1997 | A>T | No |
ClinGen TOPMed |
|
|
CA402341517 rs1398653306 |
1999 | S>N | No |
ClinGen gnomAD |
|
|
CA8948410 rs773417279 |
2002 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299708625 rs773417279 |
2002 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977012157 CA299708620 |
2004 | F>I | No |
ClinGen Ensembl |
|
|
CA402341480 rs1419966168 |
2005 | T>A | No |
ClinGen TOPMed |
|
|
rs772171146 CA299708610 |
2005 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772171146 CA8948409 |
2005 | T>N | No |
ClinGen ExAC gnomAD |
|
| rs1064795230 | 2007 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201815038 CA299708601 |
2008 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 2010 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021132710 CA299708580 |
2011 | L>R | No |
ClinGen Ensembl |
|
|
CA402341434 rs1157678315 |
2012 | H>P | No |
ClinGen TOPMed |
|
|
CA8948407 rs779106020 |
2013 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA402341421 rs1397326089 |
2014 | S>C | No |
ClinGen TOPMed |
|
|
rs1309399920 CA402341035 |
2017 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA299702170 rs368931316 |
2018 | K>Q | No |
ClinGen ESP TOPMed |
|
|
rs1327476156 CA402341007 |
2019 | L>P | No |
ClinGen gnomAD |
|
|
CA299702140 rs374784153 |
2021 | P>A | No |
ClinGen ESP gnomAD |
|
|
rs374784153 CA402340988 |
2021 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs927407562 CA299702132 |
2022 | G>C | No |
ClinGen Ensembl |
|
|
CA8948370 rs761057196 |
2024 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750831983 CA8948369 |
2026 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402340884 rs1599456103 |
2029 | L>F | No |
ClinGen Ensembl |
|
|
CA402340894 rs1469719757 |
2029 | L>M | No |
ClinGen gnomAD |
|
|
CA402340879 rs1231216647 |
2030 | H>N | No |
ClinGen gnomAD |
|
|
rs971428390 CA299702107 |
2032 | M>R | No |
ClinGen Ensembl |
|
|
rs1453237016 CA402340778 |
2037 | A>G | No |
ClinGen gnomAD |
|
|
rs1453237016 CA402340777 |
2037 | A>V | No |
ClinGen gnomAD |
|
|
CA402340716 rs1568107349 |
2042 | K>R | No |
ClinGen Ensembl |
|
|
CA402340694 rs1289861507 |
2044 | P>S | No |
ClinGen gnomAD |
|
|
rs1278608704 CA402340680 |
2045 | E>A | No |
ClinGen TOPMed |
|
|
rs937113976 CA299702089 |
2047 | I>V | No |
ClinGen TOPMed |
|
|
rs746878988 CA8948361 |
2050 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402340610 rs1439293362 |
2050 | A>V | No |
ClinGen gnomAD |
|
|
CA402340608 rs1350972634 |
2051 | F>L | No |
ClinGen gnomAD |
|
|
rs777644749 CA8948360 |
2052 | H>R | No |
ClinGen ExAC |
|
|
rs1280478698 CA402340593 |
2052 | H>Y | No |
ClinGen TOPMed |
|
|
CA402340573 rs1391238792 |
2053 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs116076204 CA8948357 |
2056 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs911399962 CA299702035 |
2057 | K>Q | No |
ClinGen TOPMed |
|
|
CA299702015 rs1005746569 |
2059 | P>S | No |
ClinGen Ensembl |
|
|
CA402340495 rs1387088435 |
2060 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA299702006 rs758035948 |
2062 | D>G | No |
ClinGen Ensembl |
|
|
rs1395832994 CA402340470 |
2062 | D>Y | No |
ClinGen TOPMed |
|
|
rs767925401 CA8948352 |
2063 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948350 rs757760213 |
2064 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402340427 rs1410349699 |
2065 | P>S | No |
ClinGen TOPMed |
|
|
CA8948349 rs557508624 |
2066 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1281608789 CA402340402 |
2068 | M>L | No |
ClinGen gnomAD |
|
|
rs775746962 CA299701949 |
2073 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs775746962 CA8948346 |
2073 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA402340346 rs1439300133 |
2075 | K>I | No |
ClinGen gnomAD |
|
|
CA402340000 rs1277644596 |
2076 | V>L | No |
ClinGen gnomAD |
|
|
rs191824898 CA8948322 |
2079 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748941224 CA8948320 |
2081 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195780333 CA402339912 |
2083 | S>N | No |
ClinGen gnomAD |
|
|
CA299699651 rs775069400 |
2083 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA8948318 rs769470632 |
2085 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402339888 rs769470632 |
2085 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2087 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8948315 rs757874630 COSM460128 |
2090 | S>F | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 2090 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8948314 rs747472504 |
2091 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA402339808 rs1388230855 |
2092 | L>F | No |
ClinGen gnomAD |
|
|
rs758771528 CA8948312 |
2094 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778298437 CA8948313 |
2094 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8948310 rs779062170 |
2096 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA402339751 rs141854483 |
2096 | N>S | No |
ClinGen gnomAD |
|
|
rs1371099514 CA402339744 |
2097 | W>R | No |
ClinGen gnomAD |
|
|
CA8948307 rs766396310 |
2104 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA402339662 rs766396310 |
2104 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751430418 CA8948305 |
2105 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs764011985 CA8948304 |
2108 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA402339627 rs1318745133 |
2109 | P>L | No |
ClinGen TOPMed |
|
|
CA402339623 rs1344319821 |
2110 | H>R | No |
ClinGen TOPMed |
|
|
CA402339615 rs1428297032 |
2111 | P>L | No |
ClinGen TOPMed |
|
|
CA402339618 rs1194757461 |
2111 | P>T | No |
ClinGen gnomAD |
|
|
CA8948301 rs769368560 |
2114 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759192033 CA402339585 |
2116 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs759192033 CA8948300 |
2116 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA402339572 rs1312232966 |
2117 | I>M | No |
ClinGen TOPMed |
|
|
CA402339574 rs1351663204 |
2117 | I>T | No |
ClinGen gnomAD |
|
|
rs1357953751 CA402339570 |
2118 | V>I | No |
ClinGen TOPMed |
|
|
rs1260290972 CA402339560 |
2119 | C>Y | No |
ClinGen gnomAD |
|
|
CA299699519 rs1025405891 |
2122 | F>L | No |
ClinGen Ensembl |
|
|
CA8948297 rs747525438 |
2123 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA402339537 rs747525438 |
2123 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8948295 CA8948296 rs537052000 |
2124 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2124 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745678786 CA299699472 |
2124 | M>T | No |
ClinGen Ensembl |
|
|
rs781199951 CA299699486 |
2124 | M>V | No |
ClinGen Ensembl |
|
|
CA402339522 rs1239404850 |
2125 | I>T | No |
ClinGen TOPMed |
|
|
CA8948294 rs748510392 |
2125 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779296458 CA402339514 |
2126 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2128 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8948291 rs754032976 |
2130 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461858491 CA402339490 |
2130 | E>K | No |
ClinGen TOPMed |
|
|
rs1385232197 CA402339482 |
2131 | V>I | No |
ClinGen gnomAD |
|
|
rs780110061 CA8948290 |
2132 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs151192754 CA299699411 |
2134 | V>A | No |
ClinGen 1000Genomes |
|
|
rs764063278 CA8948288 |
2134 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764063278 CA8948287 |
2134 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948284 rs565916665 |
2136 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8948283 rs565916665 |
2136 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402339451 rs1398717405 |
2136 | Q>H | No |
ClinGen TOPMed |
|
|
CA402339425 rs1382037769 |
2138 | D>E | No |
ClinGen TOPMed |
|
|
CA299699145 rs1037411579 |
2140 | P>L | No |
ClinGen TOPMed |
|
|
rs1170098407 CA402339416 |
2140 | P>S | No |
ClinGen gnomAD |
|
|
rs758294478 CA8948269 |
2143 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767946843 CA299699138 |
2143 | S>R | No |
ClinGen Ensembl |
|
|
rs752625052 CA8948268 |
2144 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2145 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2146 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568103466 CA402339367 |
2148 | T>I | No |
ClinGen Ensembl |
|
|
CA402339363 rs1258399991 |
2149 | S>G | No |
ClinGen gnomAD |
|
|
rs1329332238 CA402339360 |
2149 | S>T | No |
ClinGen gnomAD |
|
|
CA8948266 rs756820643 |
2150 | S>N | No |
ClinGen ExAC |
|
|
CA8948264 rs754870705 |
2151 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA402339343 rs1238105126 |
2152 | S>* | No |
ClinGen TOPMed |
|
|
rs753673177 CA8948263 |
2152 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA299699088 rs540479767 |
2155 | L>H | No |
ClinGen TOPMed |
|
|
CA8948259 rs766994492 |
2157 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224869107 CA402339294 |
2159 | V>A | No |
ClinGen gnomAD |
|
|
rs774987491 CA8948257 |
2160 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2160 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402339281 rs1413653727 |
2161 | Y>* | No |
ClinGen gnomAD |
|
|
CA402339263 rs1373055142 |
2164 | V>M | No |
ClinGen gnomAD |
|
|
CA402339230 rs1253248984 |
2168 | F>L | No |
ClinGen TOPMed |
|
|
rs775796704 CA8948254 |
2169 | S>R | No |
ClinGen ExAC |
|
|
rs770031830 CA8948253 COSM35555 |
2169 | S>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781150178 CA8948251 |
2171 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775158816 CA8948248 |
2174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755840290 CA8948244 |
2181 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402339150 rs755840290 |
2181 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402339151 rs755840290 |
2181 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402339105 rs1336609906 |
2185 | E>* | No |
ClinGen gnomAD |
|
|
CA402339106 rs1336609906 |
2185 | E>K | No |
ClinGen gnomAD |
|
|
CA402339086 rs1273460515 |
2186 | L>F | No |
ClinGen gnomAD |
|
|
rs761443059 CA8948241 |
2187 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA402339065 rs1347158736 |
2188 | M>T | No |
ClinGen TOPMed |
|
|
CA8948240 rs773709086 |
2189 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1568103098 CA402338999 |
2193 | V>E | No |
ClinGen Ensembl |
|
|
CA8948239 rs764699240 |
2195 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA299698977 rs955218325 |
2198 | S>C | No |
ClinGen gnomAD |
|
|
CA402338931 rs1320851434 |
2199 | I>M | No |
ClinGen TOPMed |
|
|
CA8948236 rs770089846 |
2199 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs770089846 CA402338933 |
2199 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746099258 CA8948235 |
2203 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164534761 CA402338871 |
2204 | Q>R | No |
ClinGen gnomAD |
|
|
rs1568103027 RCV000727937 |
2205 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 2205 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460055354 CA402338861 |
2205 | K>E | No |
ClinGen gnomAD |
|
|
rs1289708780 CA402338629 |
2209 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8948198 rs769830823 |
2211 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780807149 CA402338553 |
2215 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780807149 CA8948196 |
2215 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299698230 rs367791827 |
2217 | T>I | No |
ClinGen Ensembl |
|
|
CA402338510 rs751110940 |
2218 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948194 rs751110940 |
2218 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172883917 CA402338490 CA402338492 |
2219 | Q>H | No |
ClinGen gnomAD |
|
|
CA402338488 rs1431261711 |
2220 | M>L | No |
ClinGen gnomAD |
|
|
CA402338470 rs1421354882 |
2221 | V>L | No |
ClinGen gnomAD |
|
|
rs757974561 CA8948192 |
2225 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1568101761 CA402338328 |
2231 | G>R | No |
ClinGen Ensembl |
|
|
CA402338318 rs1280275297 |
2232 | K>E | No |
ClinGen gnomAD |
|
|
rs933505939 CA299698195 |
2232 | K>R | No |
ClinGen TOPMed |
|
|
CA8948187 rs766604013 |
2239 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs375447544 CA8948188 |
2239 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402338098 rs1440725586 |
2248 | D>G | No |
ClinGen gnomAD |
|
|
CA8948182 rs762032630 |
2248 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292556617 CA402338086 |
2249 | I>V | No |
ClinGen TOPMed |
|
|
rs1297631454 CA402338062 |
2250 | I>M | No |
ClinGen TOPMed |
|
|
rs1383445556 CA402338066 |
2250 | I>T | No |
ClinGen TOPMed |
|
|
CA402338053 rs1488282951 |
2251 | V>D | No |
ClinGen Ensembl |
|
|
rs1189572669 CA402338012 |
2255 | P>L | No |
ClinGen gnomAD |
|
|
CA402337932 rs780474089 |
2256 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948176 rs746819105 |
2256 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402337925 rs1441277758 |
2257 | M>T | No |
ClinGen gnomAD |
|
|
rs750845189 CA8948150 |
2258 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1161045934 CA402337878 |
2260 | Q>R | No |
ClinGen gnomAD |
|
|
CA8948149 rs767940928 |
2261 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA402337853 rs375960377 |
2262 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764375495 CA8948146 |
2264 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181457009 CA402337833 |
2264 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764375495 CA402337838 |
2264 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2267 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265568552 CA402337780 |
2268 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1265568552 CA402337779 |
2268 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402337768 rs1207084840 |
2269 | L>F | No |
ClinGen gnomAD |
|
|
CA299694571 rs866541727 |
2271 | M>I | No |
ClinGen Ensembl |
|
|
CA8948142 rs368888695 |
2273 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8948141 rs773012956 |
2273 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA402337717 rs368888695 |
2273 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8948139 rs774046986 |
2274 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs768330083 CA8948137 |
2275 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402337672 COSM3821478 rs1487918314 |
2276 | M>I | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs748788401 CA8948136 |
2276 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299694513 rs902607812 |
2276 | M>R | No |
ClinGen Ensembl |
|
|
rs1022692220 CA299694511 |
2277 | M>I | No |
ClinGen gnomAD |
|
|
rs1599430296 CA402337663 |
2277 | M>L | No |
ClinGen Ensembl |
|
|
rs1361988763 CA402337645 |
2278 | N>S | No |
ClinGen TOPMed |
|
|
CA8948134 COSM988440 rs373340664 |
2280 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1038351738 CA299694497 |
2281 | T>S | No |
ClinGen TOPMed |
|
|
rs1311774658 CA402337590 |
2283 | P>S | No |
ClinGen gnomAD |
|
|
CA8948129 rs777908648 |
2284 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429331925 CA402337518 |
2289 | R>L | No |
ClinGen gnomAD |
|
|
rs1429331925 CA402337516 |
2289 | R>Q | No |
ClinGen gnomAD |
|
|
CA8948127 rs532561653 |
2289 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1261218556 CA402337506 |
2290 | G>V | No |
ClinGen gnomAD |
|
|
CA402337494 rs1282424187 |
2291 | S>R | No |
ClinGen gnomAD |
|
|
CA8948123 rs767427212 |
2293 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs180886291 CA8948124 |
2293 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402337469 rs1272845915 |
2294 | T>I | No |
ClinGen gnomAD |
|
|
CA402337455 rs1599430019 |
2295 | W>L | No |
ClinGen Ensembl |
|
|
CA299694346 rs921995592 |
2296 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2300 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402337389 rs1472344546 |
2300 | M>T | No |
ClinGen TOPMed |
|
|
rs1397620563 CA402337393 |
2300 | M>V | No |
ClinGen gnomAD |
|
|
CA299694318 rs929691891 |
2307 | P>S | No |
ClinGen Ensembl |
|
|
CA8948120 rs561196352 |
2308 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1462762255 CA402337277 |
2311 | A>V | No |
ClinGen gnomAD |
|
|
CA402337262 rs1157569783 |
2314 | Q>K | No |
ClinGen TOPMed |
|
|
rs752588462 CA8948117 |
2314 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA402337235 rs1599429765 |
2318 | S>P | No |
ClinGen Ensembl |
|
|
CA8948114 rs199635841 |
2319 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376802980 CA8948112 |
2320 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339777513 COSM1212259 CA402337224 |
2320 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8948113 rs376802980 |
2320 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402337212 rs1257071280 |
2322 | M>V | No |
ClinGen gnomAD |
|
|
CA8948111 rs372153543 |
2323 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1313358662 CA402337196 |
2324 | E>A | No |
ClinGen TOPMed |
|
|
CA8948110 rs752906979 |
2324 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778865590 CA8948109 |
2326 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1446560293 CA402337169 |
2328 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1446560293 CA402337168 |
2328 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402337159 rs1241113240 |
2330 | I>L | No |
ClinGen TOPMed |
|
|
rs755119328 CA8948108 |
2333 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA402337140 rs1285514909 |
2333 | Y>N | No |
ClinGen TOPMed |
|
|
rs1348643756 CA402337133 |
2334 | F>I | No |
ClinGen TOPMed |
|
|
CA402337116 rs1392366444 |
2336 | E>Q | No |
ClinGen gnomAD |
|
|
rs200080895 CA8948088 |
2340 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1486004173 CA402336792 |
2340 | N>S | No |
ClinGen Ensembl |
|
|
COSM275716 rs542786306 CA8948087 |
2341 | Q>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 2342 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402336736 rs1160282356 |
2344 | G>E | No |
ClinGen gnomAD |
|
|
CA402336708 rs1599426742 |
2346 | G>E | No |
ClinGen Ensembl |
|
|
rs372176624 CA8948086 |
2350 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1273335008 CA402336647 |
2352 | L>V | No |
ClinGen gnomAD |
|
|
CA8948085 rs763931697 |
2353 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200932619 CA8948084 |
2353 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754517519 CA299693091 |
2356 | E>K | No |
ClinGen Ensembl |
|
|
rs1452844026 CA402336590 |
2359 | M>T | No |
ClinGen TOPMed |
|
|
rs1224893556 CA402336591 |
2359 | M>V | No |
ClinGen gnomAD |
|
|
CA402336584 rs1199488664 |
2360 | E>K | No |
ClinGen TOPMed |
|
|
CA402336537 rs1174846698 |
2366 | C>Y | No |
ClinGen TOPMed |
|
|
rs1372136322 CA402336528 |
2367 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1434558466 CA402336521 |
2368 | T>I | No |
ClinGen gnomAD |
|
|
CA402336524 rs1274529865 |
2368 | T>S | No |
ClinGen gnomAD |
|
|
CA402336511 rs1319067325 |
2370 | G>S | No |
ClinGen gnomAD |
|
|
CA402336506 rs1359845502 |
2371 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA299693049 rs867457346 |
2371 | S>I | No |
ClinGen Ensembl |
|
|
CA8948077 rs773838341 |
2374 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8948076 rs772446491 |
2375 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1425579964 CA402336471 |
2376 | Y>F | No |
ClinGen gnomAD |
|
|
CA8948075 rs748584845 |
2377 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402336445 rs1477246720 |
2380 | L>F | No |
ClinGen gnomAD |
|
|
rs1477246720 CA402336446 |
2380 | L>V | No |
ClinGen gnomAD |
|
|
rs774657431 CA8948074 |
2381 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201195321 CA8948072 |
2385 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8948070 rs373944025 |
2386 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402336372 rs1344860554 |
2390 | R>S | No |
ClinGen TOPMed |
|
|
CA8948066 rs752571576 |
2391 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754694586 CA8948064 |
2393 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753475634 CA8948063 |
2395 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs376052978 CA8948061 |
2398 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376052978 CA8948060 |
2398 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1030476117 CA299692965 |
2400 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402336281 rs1599426107 |
2404 | E>G | No |
ClinGen Ensembl |
|
|
rs1489617016 CA402336263 |
2406 | V>G | No |
ClinGen TOPMed |
|
|
CA299692941 rs369134151 |
2408 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8948057 rs369134151 |
2408 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274877697 RCV000513089 CA402336196 |
2415 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA8948037 rs775798583 |
2418 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA402336164 rs1555660179 |
2419 | L>F | No |
ClinGen Ensembl |
|
|
rs1226700218 CA402336135 |
2423 | Q>R | No |
ClinGen gnomAD |
|
|
rs1332299352 CA402336123 |
2425 | L>V | No |
ClinGen gnomAD |
|
|
CA8948035 rs759631263 |
2426 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8948033 rs770854534 COSM1388761 |
2427 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1599424744 CA402336091 |
2430 | I>T | No |
ClinGen Ensembl |
|
|
rs1599424700 CA402336077 |
2432 | T>I | No |
ClinGen Ensembl |
|
|
rs768694584 CA8948030 |
2432 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1568094308 RCV000722600 |
2435 | N>missing | No |
ClinVar dbSNP |
|
|
CA8948028 rs779664257 |
2436 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2436 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755804179 CA8948027 |
2437 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA299692387 rs868233133 |
2438 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756772032 COSM988437 CA8948024 |
2445 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568094207 CA402335947 |
2452 | S>R | No |
ClinGen Ensembl |
|
|
CA402335939 rs1303800705 |
2454 | Q>K | No |
ClinGen gnomAD |
|
|
rs758865215 CA8948021 |
2456 | L>R | No |
ClinGen ExAC |
|
|
CA299692307 rs765465837 |
2457 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948019 rs765465837 |
2457 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759813946 CA8948018 |
2460 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA402335893 rs1173822145 |
2461 | R>G | No |
ClinGen gnomAD |
|
|
CA402335882 rs1360577350 |
2462 | L>P | No |
ClinGen gnomAD |
|
|
CA8948016 rs776785851 |
2463 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA919977700 rs1568094127 |
2466 | I>* | No |
ClinGen Ensembl |
|
|
rs766612265 CA8948015 |
2469 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299692287 rs766612265 |
2469 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8948013 rs369512968 |
2470 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8948011 rs377116657 |
2474 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1522958 rs1188184108 CA402335812 |
2474 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1216016584 CA402335805 |
2475 | K>R | No |
ClinGen gnomAD |
|
|
rs373566983 COSM988436 CA8948010 |
2476 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1351710252 CA402335800 |
2476 | S>P | No |
ClinGen gnomAD |
|
|
rs1330870132 CA402335796 |
2477 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8948008 rs745658144 |
2479 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8947988 rs770594769 |
2483 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8947989 rs770594769 |
2483 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8947987 rs181533840 |
2484 | V>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA402335736 rs1333699180 |
2485 | V>F | No |
ClinGen TOPMed |
|
|
CA299688231 rs368259417 |
2486 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8947985 rs368259417 |
2486 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1465952175 CA402335720 |
2488 | S>N | No |
ClinGen gnomAD |
|
|
CA8947983 rs779338461 |
2489 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA299688129 rs915990255 |
2490 | A>V | No |
ClinGen gnomAD |
|
|
rs1473764175 CA402335698 |
2491 | A>G | No |
ClinGen gnomAD |
|
|
CA402335697 rs1473764175 |
2491 | A>V | No |
ClinGen gnomAD |
|
|
CA8947980 rs754187176 |
2493 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA299688070 rs938677456 |
2499 | M>I | No |
ClinGen Ensembl |
|
|
rs767838891 CA8947975 |
2502 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1344970570 CA402335627 |
2502 | Q>R | No |
ClinGen TOPMed |
|
|
rs921463655 CA402335615 |
2504 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA299688069 rs921463655 |
2504 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1568091772 CA402335602 |
2506 | R>K | No |
ClinGen Ensembl |
|
|
rs751623844 CA8947973 |
2508 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759467055 CA8947971 |
2512 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs770649730 CA8947969 |
2515 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402335546 rs1414473878 |
2515 | P>S | No |
ClinGen gnomAD |
|
|
CA402335540 rs1568091718 |
2516 | K>R | No |
ClinGen Ensembl |
|
|
rs1472510462 CA402335533 |
2517 | A>S | No |
ClinGen gnomAD |
|
|
rs963861143 CA299685820 |
2521 | L>P | No |
ClinGen Ensembl |
|
|
rs766290238 CA8947952 |
2522 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402335482 rs1287489625 |
2523 | A>S | No |
ClinGen gnomAD |
|
|
CA8947950 rs772963749 |
2526 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8947949 rs771745709 |
2527 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8947948 rs761480130 |
2527 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA299685767 rs201736917 |
2528 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1274073919 CA402335429 |
2531 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 2533 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434163709 CA402335416 |
2533 | Y>H | No |
ClinGen gnomAD |
|
|
rs1300055636 CA402335385 |
2537 | Q>* | No |
ClinGen gnomAD |
|
|
CA8947946 rs768276691 |
2537 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748731055 CA8947945 |
2538 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157179634 CA402335360 |
2540 | I>M | No |
ClinGen gnomAD |
|
|
CA402335323 rs1479713807 |
2546 | F>L | No |
ClinGen gnomAD |
|
|
CA8947942 rs746264665 |
2547 | I>M | No |
ClinGen ExAC |
|
| TCGA novel | 2548 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA299685687 rs953839533 |
2549 | H>R | No |
ClinGen Ensembl |
|
|
rs1487671341 CA402335281 |
2552 | H>P | No |
ClinGen gnomAD |
|
|
CA402335268 rs1239915974 |
2554 | L>I | No |
ClinGen gnomAD |
|
|
rs1211769011 CA402335262 |
2555 | Q>K | No |
ClinGen gnomAD |
|
|
CA402335246 rs1568088592 |
2557 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 2561 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8947940 rs757431427 |
2562 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2563 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777854920 CA8947938 |
2565 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402335180 rs1399391628 |
2567 | C>R | No |
ClinGen gnomAD |
|
|
CA8947936 rs752752046 |
2567 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752752046 CA402335177 |
2567 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402335141 rs1568088524 |
2572 | V>G | No |
ClinGen Ensembl |
|
|
rs1333857609 CA402335135 |
2573 | H>R | No |
ClinGen gnomAD |
|
|
rs761506859 CA402335111 |
2576 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8947932 rs200967600 |
2576 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1310596553 CA402335108 |
2577 | H>Y | No |
ClinGen TOPMed |
|
|
rs763628666 CA8947930 |
2579 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs763628666 CA8947929 |
2579 | R>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9HCE0
[MIM: 242840]: Vici syndrome (VICIS)
A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. {ECO:0000269|PubMed:23222957, ECO:0000269|PubMed:25331754, ECO:0000269|PubMed:26917586, ECO:0000269|PubMed:27343256, ECO:0000269|PubMed:28168853, ECO:0000269|PubMed:29130391}. Note=The disease is caused by variants affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957). {ECO:0000269|PubMed:23222957}.
Without disease ID
- A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. {ECO:0000269|PubMed:23222957, ECO:0000269|PubMed:25331754, ECO:0000269|PubMed:26917586, ECO:0000269|PubMed:27343256, ECO:0000269|PubMed:28168853, ECO:0000269|PubMed:29130391}. Note=The disease is caused by variants affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957). {ECO:0000269|PubMed:23222957}.
1 regional properties for Q9HCE0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | SsrA-binding protein, conserved site | 30 - 42 | IPR020081 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagosome maturation | Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling. |
| cellular response to dsDNA | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a double-stranded DNA stimulus. |
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
| endosome to lysosome transport | The directed movement of substances from endosomes to lysosomes. |
| nucleotide transport | The directed movement of a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate, into, out of or within a cell. |
| toll-like receptor 9 signaling pathway | The series of molecular signals initiated by a ligand binding to toll-like receptor 9. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEAVKPQRR | AKAKASRTKT | KEKKKYETPQ | REESSEVSLP | KTSREQEIPS | LACEFKGDHL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KVVTDSQLQD | DASGQNESEM | FDVPLTSLTI | SNEESLTCNT | EPPKEGGEAR | PCVGDSAVTP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVHPGDNVGT | KVETPKNFTE | VEENMSVQGG | LSESAPQSNF | SYTQPAMENI | QVRETQNSKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DKQGLVCSSE | VPQNVGLQSS | CPAKHGFQTP | RVKKLYPQLP | AEIAGEAPAL | VAVKPLLRSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RLYPELPSQL | ELVPFTKEQL | KILEPGSWLE | NVESYLEEFD | SMAHQDRHEF | YELLLNYSRC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RKQLLLAEAE | LLTLTSDCQN | AKSRLWQFKE | EQMSVQGICA | DQVKVFSYHR | YQRVEMNENA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVELKKLFDA | KSEHLHQTLA | LHSYTSVLSR | LQVESYIYAL | LSSSAVLRSS | AIHQQGRASK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QTESIPSDLC | QLKECISVLF | MFTRRVNEDT | QFHDDILLWL | QKLVSVLQRV | GCPGDHLFLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NHILRCPAGV | SKWAVPFIQI | KVLHNPSGVF | HFMQSLALLM | SPVKNRAEFM | CHMKPSERKP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSSGPGSGTW | TLVDEGGEED | EDPETSWILL | NEDDLVTILA | QFPFHELFQH | LLGFKAKGDY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LPETTRPQEM | MKIFAFANSL | VELLAVGLET | FNRARYRQFV | KRIGYMIRMT | LGYVSDHWAQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YVSHNQGSGL | AQQPYSMEKL | QVEFDELFLR | AVLHVLKAKR | LGIWLFMSEM | PFGTLSVQML |
| 730 | 740 | 750 | 760 | 770 | 780 |
| WKLFYLMHQV | ESENLQQLSS | SLQPAQCKQQ | LQDPEHFTNF | EKCLSSMNSS | EEICLLTTFA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QMAQARRTNV | DEDFIKIIVL | EIYEVSYVTL | STRETFSKVG | RELLGTITAV | HPEIISVLLD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RVQETIDQVG | MVSLYLFKEL | PLYLWQPSAS | EIAVIRDWLL | NYNLTVVKNK | LACVILEGLN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| WGFAKQATLH | LDQAVHAEVA | LMVLEAYQKY | LAQKPYAGIL | SESMKQVSYL | ASIVRYGETP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ETSFNQWAWN | LILRLKLHKN | DYGIQPNCPA | VPFSVTVPDM | TESPTFHPLL | KAVKAGMPIG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| CYLALSMTAV | GHSIEKFCAE | GIPLLGILVQ | SRHLRTVVHV | LDKILPLFYP | CQYYLLKNEQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| FLSHLLLFLH | LDSGVPQGVT | QQVTHKVAQH | LTGASHGDNV | KLLNSMIQAH | ISVSTQPNEV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| GPVAVLEFWV | QALISQHLWY | REQPILFLMD | HLCKAAFQLM | QEDCIQKLLY | QQHKNALGYH |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| CDRSLLSSLV | SWIVAGNITP | SFVEGLATPT | QVWFAWTVLN | MESIFEEDSQ | LRRVIEGELV |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| INSAFTPDQA | LKKAQTQLKL | PIVPSLQRLL | IYRWAHQALV | TPSDHPLLPL | IWQKFFLLYL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| HRPGPQYGLP | IDGCIGRRFF | QSPAHINLLK | EMKRRLTEVA | DFHHAASKAL | RVPAEGSEGL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| PESHSGTPGY | LTSPELHKEL | VRLFNVYILW | LEDENFQKGD | TYIPSLPKHY | DIHRLAKVMQ |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| NQQDLWMEYL | NMERIYHEFQ | ETVGLWTQAK | LESHSTPCSL | SVQLDFTDPL | LAKERVLSNL |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| RKHEAPQPPL | ALHPTKPPVP | VISSAVLLSQ | KDATQLVCTD | LNLLQQQART | AALRESQQVA |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LDGELLDTMP | KQYVNREEQT | TLHLECRGSS | GKKCQGAAVV | TVQFEGMHKN | EAISQQLHVL |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| RKEVKQLQAE | AAKPPSLNIV | EAAVHAENLI | TALVNAYKLQ | PTPGIQKVGI | SLFFTIVDYV |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| SDETQRHPPT | RQFFTSCIEI | LGQVFISGIK | SECRKVLETI | LKNSRLCSLL | SPFFTPNAAP |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| AEFIQLYEQV | VKFLSEDNSD | MIFMLLTKFD | LKQWLSATKP | PLSDRTRLLE | SIHLALTAWG |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| LEPDEDILMP | FNLFCKHWTY | LLLYQFPDQY | SDILRLLMQS | SAEQLLSPEC | WKATLRALGC |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| CAPSCQQGAA | STEGAVLPSS | SDALLSDKQV | METIQWLSDF | FYKLRLSKMD | FKSFGLFSKW |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| SPYMADVKTF | LGYLVKRLID | LEMTCLAQDP | TASRKTVLKS | LHSVIIQLFK | PWILVLEDNE |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| SSQQRHYPWL | ESDTVVASSI | VQLFTDCIDS | LHESFKDKLL | PGDAGALWLH | LMHYCEACTA |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| PKMPEFILYA | FHSTYRKLPW | KDLHPDQMLM | EAFFKVERGS | PKSCFLFLGS | VLCEVNWVSV |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| LSDAWNSSPH | PETRSMIVCL | LFMMILLAKE | VQLVDQTDSP | LLSLLGQTSS | LSWHLVDIVS |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| YQSVLSYFSS | HYPPSIILAK | ESYAELIMKL | LKVSAGLSIP | TDSQKHLDAV | PKCQAFTHQM |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| VQFLSTLEQN | GKITLAVLEQ | EMSKLLDDII | VFNPPDMDSQ | TRHMALSSLF | MEVLMMMNNA |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| TIPTAEFLRG | SIRTWIGQKM | HGLVVLPLLT | AACQSLASVR | HMAETTEACI | TAYFKESPLN |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| QNSGWGPILV | SLQVPELTME | EFLQECLTLG | SYLTLYVYLL | QCLNSEQTLR | NEMKVLLILS |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| KWLEQVYPSS | VEEEAKLFLW | WHQVLQLSLI | QTEQNDSVLT | ESVIRILLLV | QSRQNLVAEE |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| RLSSGILGAI | GFGRKSPLSN | RFRVVARSMA | AFLSVQVPME | DQIRLRPGSE | LHLTPKAQQA |
| 2530 | 2540 | 2550 | 2560 | 2570 | |
| LNALESMASS | KQYVEYQDQI | LQATQFIRHP | GHCLQDGKSF | LALLVNCLYP | EVHYLDHIR |