Q03468
EV
Gene name |
ERCC6 (CSB) |
Protein name |
DNA excision repair protein ERCC-6 |
Names |
ATP-dependent helicase ERCC6, Cockayne syndrome protein CSB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2074 |
EC number |
|
Protein Class |
SNF2/RAD54 FAMILY MEMBER (PTHR45629) |
Descriptions
CSB is implicated in the repair of DNA lesions that induce replication stress. It possesses an intrinsic ATP-dependent fork reversal activity, activated upon removal of its N-terminal region, which autoinhibits CSB’s ATPase domain. This activity supports CSB's role in regulating slowdown in fork progression upon exposure to replication stress and in fork reversal in vivo.
Autoinhibitory domains (AIDs)
Target domain |
455-1009 (ATPase domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for Q03468
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4CVO | X-ray | 185 A | A | 84-160 | PDB |
| 7OO3 | EM | 280 A | b | 1-1493 | PDB |
| 7OOB | EM | 270 A | b | 1-1493 | PDB |
| 7OOP | EM | 290 A | b | 1-1493 | PDB |
| 7OPC | EM | 300 A | b | 1-1493 | PDB |
| 7OPD | EM | 300 A | b | 1-1493 | PDB |
| 8B3D | EM | 260 A | b | 1-1493 | PDB |
| 8B3F | EM | 310 A | b | 1-1493 | PDB |
| AF-Q03468-F1 | Predicted | AlphaFoldDB |
1343 variants for Q03468
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001048492 RCV003155345 rs1272960343 |
14 | E>missing | Cockayne syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA206585604 RCV002221572 RCV000666618 RCV002252204 RCV001381278 rs577021605 |
21 | Q>* | ERCC6-Related Disorders DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs751610688 RCV000672340 RCV002531314 |
43 | E>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000664765 COSM918682 rs186839348 CA5496604 RCV002532035 |
62 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium DE SANCTIS-CACCHIONE SYNDROME [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554794641 RCV001172036 RCV000672932 |
70 | P>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669424 rs1554794640 |
72 | L>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000001777 RCV001851562 CA115155 rs121917903 RCV000502276 |
77 | R>* | Uv-sensitive syndrome 1 (uvss1) UV-sensitive syndrome 1 Variant assessed as Somatic; 0.0 impact. Cockayne syndrome type 2 [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000667164 rs1554794620 |
87 | A>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000778284 rs1564447112 CA376712796 |
88 | Q>* | ERCC6-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001330794 rs1837497957 |
97 | V>M | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5496563 RCV000917252 RCV000278426 rs116275562 RCV000391442 RCV000340746 |
127 | V>I | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000329237 CA5496559 RCV000238687 VAR_054153 RCV000381521 RCV000873158 RCV000289449 rs148095899 |
134 | R>W | Macular degeneration COFS syndrome Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106964 CA5496532 RCV001106962 COSM918680 rs149382642 RCV003106118 RCV001106963 |
144 | T>M | Cerebrooculofacioskeletal syndrome 1 endometrium Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000672864 rs1554794360 |
146 | S>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984001 RCV000193828 CA277210 rs751838040 RCV002485298 RCV000224212 |
156 | Q>* | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623649 rs1554794342 |
163 | T>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000666614 CA5496516 rs771781694 RCV001731863 |
176 | R>* | Variant assessed as Somatic; 0.0 impact. DE SANCTIS-CACCHIONE SYNDROME [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001880074 RCV001264149 rs1837393519 |
192 | Q>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000356401 RCV000406450 RCV000669790 CA10635431 rs886047039 RCV000300289 |
199 | L>V | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000674902 RCV000211122 CA10576142 rs875989810 RCV001061726 |
215 | E>* | Premature ovarian failure 11 DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170393 CA199603 RCV000340086 RCV000404438 RCV000726037 rs150935953 RCV000287342 RCV002515216 |
224 | L>F | Cerebrooculofacioskeletal syndrome 1 Inborn genetic diseases Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs999171980 RCV001035922 CA206620468 RCV002551343 |
255 | K>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002530637 RCV000664845 rs1254008304 |
261 | R>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001103909 COSM918679 RCV001103908 RCV001856406 CA5496431 RCV001103907 RCV001664689 rs768589918 |
272 | E>K | Genetic non-acquired premature ovarian failure Variant assessed as Somatic; 0.0 impact. Cerebrooculofacioskeletal syndrome 1 endometrium breast Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs797045562 RCV000194098 |
284 | E>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000345666 RCV000983817 RCV000408050 CA5496425 RCV000288378 rs143260457 |
286 | K>N | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000346592 RCV002520599 CA5496417 RCV002520598 RCV000293985 rs766256094 RCV000385141 |
301 | P>S | Cerebrooculofacioskeletal syndrome 1 Inborn genetic diseases Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs765040780 RCV000664827 |
303 | T>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
CA376753732 RCV001107528 rs1218964618 RCV001107526 RCV001107527 |
320 | V>L | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs387906262 RCV000001773 |
325 | E>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626193 rs1554793305 |
335 | L>missing | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809201 RCV000665546 CA376753425 RCV001449817 rs1198241866 |
337 | K>* | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000001780 rs1590474873 RCV002510766 |
345 | K>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203195 RCV000670903 rs1554793270 CA376752794 |
379 | E>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000668743 rs1554793268 |
382 | E>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000668240 RCV000596097 rs1284316063 |
382 | E>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000406265 RCV000358992 CA5496378 RCV000871745 RCV000731973 RCV000307520 rs141391984 RCV000301875 RCV000359960 RCV000267854 CA10631775 |
386 | D>E | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148295935 CA5496377 RCV000348685 RCV000923032 RCV000388161 RCV000296235 |
387 | E>K | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000116994 RCV001657731 RCV001657730 VAR_001217 RCV001519187 RCV001657729 RCV001657732 RCV000375364 RCV000278377 rs2228528 RCV000335722 CA152774 |
399 | G>D | Macular degeneration COFS syndrome UV-sensitive syndrome 1 Cockayne syndrome Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772545860 RCV000674239 |
404 | L>Q | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000265852 RCV000318351 RCV000376746 rs138865542 CA5496364 RCV000943556 |
410 | G>D | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001107417 RCV002556102 rs374490261 CA5496361 RCV001107419 RCV001107418 RCV001819817 |
413 | R>W | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5496358 RCV000324334 RCV000364031 RCV000733377 RCV000266947 VAR_016301 rs4253046 |
425 | D>A | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000306991 RCV000664610 RCV000273044 RCV000365275 CA10628663 rs886047038 |
427 | F>S | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170364 rs786205166 RCV001850424 |
429 | S>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779180885 RCV000672534 |
440 | G>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672827 rs769020754 |
441 | E>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_016302 RCV000312969 RCV000350749 rs4253047 RCV000224117 RCV000403688 RCV000249641 CA5496347 |
446 | G>D | Macular degeneration COFS syndrome Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001384070 rs121917902 RCV000763212 RCV000669858 CA251920 RCV000001772 |
453 | R>* | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001105654 rs140135643 RCV001105656 RCV001105655 RCV002556078 CA5496338 |
460 | Y>S | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000730622 RCV001105651 RCV002536451 rs375995821 CA5496336 RCV001105652 RCV001105653 |
464 | R>W | Cerebrooculofacioskeletal syndrome 1 Inborn genetic diseases Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886047037 RCV000314571 RCV001208484 |
478 | K>missing | ERCC6-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5495972 RCV000280376 RCV000402785 RCV003114473 RCV000335550 rs61749175 |
479 | R>C | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000341135 RCV000392882 RCV000286147 RCV001508658 rs139161933 CA5495971 |
479 | R>H | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170368 rs786205168 RCV001850425 |
506 | K>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264148 rs1851434105 |
506 | K>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001851561 rs121917900 RCV000001768 CA251917 |
517 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001196299 CA16043449 rs1057518910 RCV001246234 RCV000415186 |
530 | L>P | Cockayne syndrome Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5495923 rs752712823 RCV000670772 |
532 | D>G | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000329433 CA199578 RCV000723972 RCV000170369 CA376728648 RCV000274383 RCV000384088 rs116373975 RCV002478526 |
553 | K>N | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA376728543 RCV000714665 rs1564430115 RCV000714664 |
561 | Y>D | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001293713 rs1361909458 |
576 | T>R | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000368604 RCV000277469 RCV000944209 RCV000332639 CA5495877 rs767709344 |
587 | T>M | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs115876786 RCV001172035 RCV002558727 CA5495870 |
591 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001264147 rs768188064 |
593 | R>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264146 rs961060711 |
606 | K>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001106688 RCV001106690 rs200832611 RCV001106689 CA5495858 RCV000522199 |
607 | K>R | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554789393 RCV000673910 |
608 | E>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293713 RCV002475978 CA5495825 RCV000664544 RCV001775125 rs376526037 RCV000622933 RCV000494216 |
612 | R>* | Variant assessed as Somatic; 0.0 impact. Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA199582 RCV000170372 rs201894064 RCV002516540 RCV000668823 |
612 | R>Q | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs786205167 RCV000170366 |
617 | C>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1307714476 RCV001869353 RCV000988356 |
624 | S>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367546930 CA5495818 RCV001871797 RCV001329037 |
639 | D>G | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1851015811 RCV001264145 RCV001063173 |
640 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767247987 RCV000667169 CA274694 RCV000170373 RCV001227175 COSM3415080 |
652 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs61760163 RCV000384253 RCV000170374 RCV000515272 RCV000344840 RCV000289884 CA199585 RCV000724215 RCV002515214 |
666 | R>C | COFS syndrome Macular degeneration Cockayne syndrome Inborn genetic diseases DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5495790 rs769904341 RCV001261851 |
666 | R>H | Cockayne syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs786205169 RCV000170375 |
667 | T>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1205623 RCV002515215 rs202080674 RCV000170376 VAR_001218 RCV000624050 CA274698 |
670 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases Cockayne syndrome type 2 CSB [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA376724405 VAR_063511 RCV000664690 rs1554788393 |
680 | N>D | DE SANCTIS-CACCHIONE SYNDROME CSB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001236985 RCV000001781 RCV000333649 CA115159 RCV002490293 rs121917904 RCV000983998 |
683 | R>* | ERCC6-Related Disorders Cerebrooculofacioskeletal syndrome 1 (cofs1) Variant assessed as Somatic; 0.0 impact. Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA239092 rs148845653 RCV000259781 RCV000173643 RCV000318448 RCV000354594 |
683 | R>Q | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000500198 RCV002527247 rs751292948 CA376724364 |
686 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5495779 RCV000733918 rs751292948 RCV001266077 VAR_063512 |
686 | W>C | Inborn genetic diseases CSB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000667893 VAR_063513 RCV001255758 CA206595753 rs1026438103 RCV001861762 |
687 | S>L | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 CSB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1554788383 RCV000674068 |
691 | F>PLFDF | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5495772 rs114852424 RCV001106593 RCV001759875 RCV001106592 RCV001106591 |
694 | P>L | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546790 RCV001336673 RCV002499665 rs1439211546 |
699 | T>missing | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000358004 CA5495770 RCV000304579 RCV000725973 rs55698015 RCV000263243 |
699 | T>M | COFS syndrome Macular degeneration Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774791374 RCV000668158 RCV001046396 RCV000170377 |
700 | L>missing | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369437807 RCV002480092 RCV000395741 RCV002520597 RCV000308072 RCV000362821 CA5495764 |
709 | V>I | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002469337 RCV001061824 rs780538788 CA5495761 |
715 | G>* | Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA274701 RCV000256036 RCV002505228 RCV000983999 RCV002271443 RCV000778283 rs151242354 RCV000170378 |
723 | Q>* | ERCC6-Related Disorders Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001264144 rs1850916835 |
734 | L>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000001770 rs121917901 CA115152 RCV000001769 RCV002476910 RCV001199022 RCV000521977 RCV000406377 |
735 | R>* | ERCC6-Related Disorders Variant assessed as Somatic; 0.0 impact. Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001105445 CA5495729 rs201930958 RCV001105446 RCV001105447 RCV002558053 |
735 | R>L | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1590413260 RCV000001783 CA376723539 |
752 | M>V | Cerebrooculofacioskeletal syndrome 1 (cofs1) Cerebrooculofacioskeletal syndrome 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5495685 RCV000364143 RCV002520596 rs139913322 RCV001859784 RCV000269783 RCV000324861 |
789 | L>V | Cerebrooculofacioskeletal syndrome 1 Inborn genetic diseases Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1850874595 RCV001263774 |
794 | Q>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000367782 RCV000273288 rs146043988 RCV000309721 CA5495653 RCV001546942 |
797 | S>C | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886047036 RCV000667627 RCV000326222 RCV000286508 RCV000380950 |
829 | E>missing | Macular degeneration COFS syndrome Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850832795 RCV001263773 |
835 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263772 rs1850832063 |
848 | L>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA376721328 RCV000195010 rs368728467 RCV000625851 RCV001844081 VAR_001219 CA277416 RCV001855324 RCV000675120 RCV001063571 |
851 | W>R | Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 CSB; DNA-dependent ATPase-dead mutant; loss of chromatin remodeling activity; loss of its ability to inhibit non-homologous end joining-mediated repair and promote homologous recombination-mediated repair of DNA double-strand breaks; loss of its ability to suppress premature exit from G2/M checkpoint; abrogation of its UV-induced chromatin association [ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP dbSNP UniProt |
|
RCV000673909 rs1554787509 CA376721285 |
854 | Q>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1850831525 RCV001263771 |
856 | Q>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057555 COSM1675221 CA5495625 RCV000668815 rs751448793 |
857 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine DE SANCTIS-CACCHIONE SYNDROME [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_063514 | 871 | L>P | COFS1 [UniProt] | Yes | UniProt |
|
RCV000314874 CA5495592 RCV001850587 RCV000274635 RCV000369202 rs116431130 RCV002487336 |
882 | Y>C | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000299513 RCV000259702 RCV000354408 RCV003144199 RCV000671017 rs374470147 CA5495581 |
899 | T>M | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142580756 CA5495546 RCV001812787 RCV000343009 RCV000404286 RCV000288031 |
914 | T>M | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765252538 RCV001106390 RCV001106389 RCV001106388 CA5495536 |
926 | A>P | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA376719054 rs1283213117 RCV001263770 |
936 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000375239 rs2228525 RCV000318258 RCV000871431 CA5495526 RCV000279516 RCV000250626 VAR_016303 |
942 | T>M | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000790906 CA376718929 rs1590407957 |
942 | T>P | ERCC6-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000592438 CA206586242 RCV000674384 rs906755254 |
947 | R>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA376718692 RCV001876284 RCV001199021 rs1332662295 |
947 | R>Q | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001263769 rs1850797541 |
949 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_001220 | 957 | V>G | CSB [UniProt] | Yes | UniProt |
|
rs190863815 RCV001105260 RCV000514529 CA5495497 RCV001105259 RCV001105258 |
959 | V>L | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000272205 CA10628651 RCV000329619 rs886047035 RCV000368132 |
969 | E>K | Cerebrooculofacioskeletal syndrome 1 Variant assessed as Somatic; impact. Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs772801089 RCV000502392 CA5495484 RCV001246953 |
975 | R>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000307545 RCV000397231 rs145720191 CA240638 RCV000364521 RCV000174989 |
975 | R>Q | Macular degeneration COFS syndrome Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002469293 rs1590406503 RCV001266389 RCV000797441 |
984 | N>missing | Cockayne syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000001782 VAR_063515 CA115162 rs121917905 |
987 | L>P | Cerebrooculofacioskeletal syndrome 1 (cofs1) Cerebrooculofacioskeletal syndrome 1 COFS1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000402532 RCV000666981 CA5495459 RCV000303633 RCV000360779 rs772104945 |
992 | Q>E | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000338857 rs375181157 RCV002487335 CA5495457 RCV000281519 RCV000403327 RCV002520595 |
997 | K>E | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000296287 RCV000388236 RCV000335362 CA5495454 RCV001850586 rs760694729 |
999 | N>S | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001263768 rs1850770605 |
1003 | E>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000363004 RCV000175123 RCV000328199 CA240809 rs41562713 RCV000270778 |
1021 | I>V | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001263767 rs1850769140 |
1024 | G>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850766086 TCGA novel RCV001263694 |
1033 | K>* | Variant assessed as Somatic; impact. Cockayne syndrome type 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001030756 rs1850765501 |
1038 | R>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002532129 rs1342267719 RCV000672557 |
1039 | R>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515412 RCV000266566 rs139007661 RCV000170382 RCV002516541 CA199591 RCV000323987 RCV000724216 RCV000988355 RCV000358951 |
1041 | Q>P | COFS syndrome Macular degeneration Cockayne syndrome Inborn genetic diseases DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_001221 | 1042 | P>L | CSB [UniProt] | Yes | UniProt |
|
RCV002522159 RCV000348563 CA5495391 rs200093886 RCV000403215 RCV000313595 |
1064 | N>S | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000224059 VAR_001222 rs4253208 RCV000988354 RCV000291488 RCV000345279 RCV000001776 RCV000170384 CA199597 |
1095 | P>R | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000287947 VAR_001223 RCV001519186 RCV000378942 rs2228526 RCV000116997 CA090900 RCV000322054 |
1097 | M>V | COFS syndrome Macular degeneration Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1850759141 RCV001263693 |
1119 | E>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000264621 RCV000375317 rs147079519 RCV002520594 CA5495358 RCV000994389 RCV000318342 |
1131 | N>D | Cerebrooculofacioskeletal syndrome 1 Inborn genetic diseases Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000668548 rs786205170 RCV000170385 |
1138 | T>missing | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1435512927 RCV000668999 |
1145 | E>R | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
CA376714769 RCV000988353 rs1250248245 RCV001858690 |
1149 | E>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1850757159 RCV001263692 |
1150 | K>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1286402535 CA376714593 RCV001263691 |
1155 | Y>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA915945902 RCV000876238 rs1590405627 RCV001261852 |
1161 | S>P | Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5495342 RCV000286114 rs142094044 RCV000342577 RCV000889650 RCV000405490 |
1161 | S>R | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5495341 RCV000282486 RCV000378213 RCV000889649 RCV000339799 rs148636026 |
1161 | S>T | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs786205171 RCV003114321 RCV000170386 RCV000224382 RCV000666242 |
1179 | Y>missing | Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850754584 RCV001263690 |
1182 | K>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263689 rs1850753467 |
1192 | E>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1248870490 RCV000669145 |
1194 | E>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1287286877 RCV000674275 RCV001386142 |
1198 | K>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671320 RCV000170387 RCV001092478 rs786205172 |
1203 | K>missing | DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000674969 rs1554875155 |
1205 | K>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205173 RCV000170388 |
1205 | K>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670522 rs1554875154 RCV001382561 |
1210 | K>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000260044 CA10604527 rs886042655 RCV000664624 |
1212 | C>S | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2228527 RCV001263688 |
1213 | R>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000329399 CA152785 RCV000272009 rs2228527 RCV001519185 RCV000116998 VAR_001224 RCV000367801 |
1213 | R>G | COFS syndrome Macular degeneration Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377041857 CA5495308 RCV000224784 RCV002516227 |
1215 | A>T | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs61760166 RCV000364264 RCV000307135 CA5495307 RCV000397087 RCV000513602 |
1217 | F>C | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1850750513 RCV001263687 RCV003151297 |
1219 | G>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000301693 RCV001511013 RCV000116999 rs4253211 CA152788 RCV000358890 RCV000403636 VAR_016305 |
1230 | R>P | Macular degeneration COFS syndrome Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1850747928 RCV001264262 |
1253 | E>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336675 rs1850747769 |
1254 | K>N | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1464826740 RCV001104965 RCV001104964 RCV001104963 |
1255 | L>P | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564725879 RCV000779030 |
1284 | A>missing | ERCC6-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1251473 RCV000024284 RCV000733375 RCV000622864 RCV000784896 rs185142838 CA129817 RCV000671085 |
1288 | R>* | Cerebrooculofacioskeletal syndrome 1 (cofs1) Cerebrooculofacioskeletal syndrome 1 oesophagus DE SANCTIS-CACCHIONE SYNDROME Inborn genetic diseases Cockayne syndrome type 2 [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1386369933 RCV001386579 RCV000666791 |
1291 | Q>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001103051 CA5495241 RCV001108249 rs139188695 RCV002558031 RCV001103052 |
1298 | R>G | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs367552064 RCV001108247 RCV001862868 RCV001108248 RCV001108246 CA5495238 |
1301 | R>C | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA274710 RCV000170389 rs786205174 RCV001850426 |
1302 | Q>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000674820 rs1554874085 |
1305 | L>P | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001731575 RCV000291244 RCV002487334 RCV000514743 CA5495229 RCV000383350 VAR_016306 rs2229761 RCV000330020 |
1308 | V>L | COFS syndrome Macular degeneration Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA376708280 rs1564725764 RCV000735200 |
1314 | W>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231998 RCV000170390 RCV000666483 RCV002271445 rs765825423 |
1318 | R>missing | Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002531345 RCV000674136 rs1554874073 |
1320 | I>missing | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746330518 RCV001106028 RCV002555040 CA5495223 |
1321 | S>C | Cerebrooculofacioskeletal syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000361480 CA5495222 RCV000326545 rs4253219 RCV000269110 RCV000914526 VAR_016307 |
1322 | G>V | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs786205175 RCV000170391 |
1336 | N>missing | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370285377 CA5495181 RCV001104863 RCV001104862 RCV001873502 RCV001104861 |
1356 | G>D | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA242019 RCV000176145 RCV000763654 rs574272317 |
1356 | G>S | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_016308 RCV000872595 rs4253227 RCV000359172 RCV000265741 CA5495173 RCV000323106 |
1372 | G>R | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001089544 rs1850531575 |
1392 | K>* | Cockayne syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745352643 CA199600 RCV000763653 RCV002517633 RCV000170392 COSM1505377 RCV000665525 |
1396 | R>G | lung Variant assessed as Somatic; 0.0 impact. DE SANCTIS-CACCHIONE SYNDROME [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000397973 COSM216221 rs755854972 RCV000299693 RCV000353273 CA5495154 RCV002520593 |
1404 | R>H | Variant assessed as Somatic; 0.0 impact. Cerebrooculofacioskeletal syndrome 1 endometrium central_nervous_system Cockayne syndrome type 2 Age related macular degeneration 5 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001102952 rs145622432 RCV001310921 RCV001102951 CA5495153 RCV001102950 |
1406 | E>K | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000352090 RCV000988351 rs61760167 RCV000865073 CA5495149 RCV000298443 RCV000592732 RCV000397993 |
1408 | E>A | Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_001225 CA152794 rs2228529 RCV000346112 RCV001510481 RCV000292311 RCV000117001 RCV000402619 |
1413 | Q>R | Macular degeneration COFS syndrome Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001105918 CA376703380 rs1360922012 RCV001105919 RCV001105920 |
1432 | R>K | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001105916 RCV001105917 CA5495134 RCV002558062 rs747941045 RCV001105915 |
1436 | A>T | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000326293 rs4253230 RCV000291208 RCV000870662 VAR_016311 RCV000380935 CA5495128 |
1441 | T>I | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1310971069 RCV000779029 |
1451 | L>missing | ERCC6-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665498 rs1554873743 CA376703038 |
1461 | S>* | DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759125039 CA5495123 RCV000322352 RCV000285276 RCV000379707 |
1464 | C>S | COFS syndrome Macular degeneration Cockayne syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000262594 rs201813523 RCV000483087 CA5495122 RCV002520592 RCV000375860 RCV000316584 |
1465 | V>I | Cerebrooculofacioskeletal syndrome 1 Inborn genetic diseases Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5495120 RCV002532091 rs762976316 RCV000669820 COSM1128042 |
1467 | R>* | prostate DE SANCTIS-CACCHIONE SYNDROME [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001104783 RCV001104782 RCV001104781 CA5495117 RCV002558046 rs114403790 |
1477 | H>R | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000668945 rs886047032 RCV000315496 RCV000261470 RCV000370155 |
1480 | S>missing | COFS syndrome Macular degeneration Cockayne syndrome DE SANCTIS-CACCHIONE SYNDROME [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1376663934 CA376715421 |
3 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1357952729 CA376715344 |
5 | G>R | No |
ClinGen gnomAD |
|
|
CA5496639 rs771825594 |
6 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1309929658 CA376715237 |
8 | H>L | No |
ClinGen gnomAD |
|
|
CA376715265 rs1371290208 |
8 | H>N | No |
ClinGen gnomAD |
|
|
rs1309929658 CA376715244 |
8 | H>P | No |
ClinGen gnomAD |
|
|
CA5496636 rs769990464 |
11 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000811568 rs1590492448 |
13 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1368056413 CA376715036 |
13 | Q>E | No |
ClinGen gnomAD |
|
|
CA5496635 rs748261677 |
13 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1018007589 CA206585635 |
16 | D>E | No |
ClinGen TOPMed |
|
|
rs781472671 CA5496634 |
16 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs868777378 CA206585619 |
17 | C>* | No |
ClinGen Ensembl |
|
|
rs1196819313 CA376714852 |
17 | C>S | No |
ClinGen TOPMed |
|
|
rs1196819313 CA376714854 |
17 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376714792 rs1436103479 |
19 | Q>* | No |
ClinGen TOPMed |
|
|
rs1205705497 CA376714787 |
19 | Q>R | No |
ClinGen TOPMed |
|
|
rs755077879 CA5496631 |
20 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747586740 CA5496630 |
22 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs747586740 CA376714680 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772633733 CA206585595 |
22 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376714679 rs1196976745 |
23 | V>I | No |
ClinGen gnomAD |
|
|
rs780697990 CA5496629 |
24 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA376714602 rs1264455535 |
25 | N>S | No |
ClinGen gnomAD |
|
|
rs758707340 CA5496628 |
26 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA376714507 rs1286816047 |
27 | E>D | No |
ClinGen gnomAD |
|
|
rs750735670 CA5496627 |
29 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA376714452 rs1204331764 |
29 | M>R | No |
ClinGen gnomAD |
|
|
rs201062280 CA5496626 |
31 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376714400 rs1385083248 |
31 | I>N | No |
ClinGen gnomAD |
|
|
rs1294289633 CA376714378 |
32 | K>E | No |
ClinGen gnomAD |
|
|
rs753464046 CA5496624 |
33 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763629907 CA5496623 |
34 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5496622 rs760171089 |
36 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376714218 rs760171089 |
36 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046979284 CA206585534 |
37 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5496620 rs147838944 |
38 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376714174 rs1266032728 |
38 | D>N | No |
ClinGen gnomAD |
|
|
rs759252862 CA5496619 |
39 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA206585489 rs929872916 |
40 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA376714062 rs1590492162 |
41 | V>G | No |
ClinGen Ensembl |
|
|
rs1564447267 RCV000735126 CA376713990 |
43 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1208438547 CA376714008 |
43 | E>V | No |
ClinGen gnomAD |
|
|
rs1331794721 CA376713961 |
44 | Y>* | No |
ClinGen TOPMed |
|
|
rs1590492128 CA376713979 |
44 | Y>D | No |
ClinGen Ensembl |
|
|
CA5496617 rs774154361 |
45 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs570753448 CA5496616 |
46 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776989320 CA5496615 |
47 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5496613 rs774463252 |
48 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5496612 rs780434796 |
48 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206585430 rs200769093 |
49 | S>P | No |
ClinGen Ensembl |
|
|
rs1160281106 CA376713809 |
50 | V>A | No |
ClinGen gnomAD |
|
|
CA5496610 rs746243560 |
50 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA206585391 rs199656826 |
51 | G>S | No |
ClinGen Ensembl |
|
|
rs753551732 CA5496608 |
53 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1245748723 CA376713627 |
56 | T>A | No |
ClinGen gnomAD |
|
|
CA5496606 rs41281957 |
56 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA206585346 rs933666963 |
57 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376713507 rs1590491935 |
61 | C>G | No |
ClinGen Ensembl |
|
|
rs1178512607 CA376713459 |
63 | S>A | No |
ClinGen TOPMed |
|
|
rs759569215 CA5496603 |
66 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1340348389 CA376713323 |
68 | R>K | No |
ClinGen gnomAD |
|
|
rs139075451 CA5496600 |
69 | G>E | No |
ClinGen ESP ExAC |
|
|
rs115251077 CA5496598 |
75 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775594609 CA5496596 |
76 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376713028 rs1173723641 |
78 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746424521 CA5496594 |
79 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs267602509 CA206585231 |
81 | Q>* | No |
ClinGen Ensembl |
|
|
CA5496593 rs779279311 |
82 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs201246957 CA376712893 |
84 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201246957 CA206585229 |
84 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5496591 rs570318531 |
85 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755721992 CA376712822 |
87 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755721992 CA5496589 |
87 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200893601 CA206585217 |
89 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1273977026 CA376712679 |
93 | Q>H | No |
ClinGen gnomAD |
|
|
CA376712686 rs1482145771 |
93 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271731250 CA376712578 |
99 | V>A | No |
ClinGen gnomAD |
|
|
CA376712585 rs375699479 COSM376544 |
99 | V>F | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs375699479 CA5496586 |
99 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376712509 rs1339834464 |
102 | Q>E | No |
ClinGen gnomAD |
|
|
CA376712468 rs766170632 |
103 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5496585 rs751572646 |
103 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs371100244 CA5496583 CA5496581 |
104 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5496582 rs371100244 |
104 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5496579 rs775540381 |
106 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs767700053 CA5496578 |
106 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1472833470 CA376712304 |
111 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201323217 CA5496576 |
113 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201447179 CA376712227 |
114 | D>A | No |
ClinGen TOPMed |
|
|
CA206585164 rs979639107 |
115 | N>D | No |
ClinGen TOPMed |
|
|
CA5496575 rs142097249 |
115 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1564447043 CA376712209 |
115 | N>K | No |
ClinGen Ensembl |
|
|
rs142097249 CA5496574 |
115 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5496573 rs770120527 |
117 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770120527 CA5496572 |
117 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376712179 rs1251251949 |
118 | H>R | No |
ClinGen gnomAD |
|
|
CA5496571 rs377708438 |
118 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000498528 rs1554794590 CA376712170 |
119 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5496570 rs780694810 |
121 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374014916 CA376712121 RCV000731899 |
122 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5496568 rs374014916 |
122 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5496566 rs562828066 |
122 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376712116 rs562828066 |
122 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs374014916 CA5496567 |
122 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750366811 CA5496565 |
123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564447008 CA376712095 |
124 | S>C | No |
ClinGen Ensembl |
|
|
rs1268042997 CA376712078 |
125 | Q>H | No |
ClinGen gnomAD |
|
|
CA376712022 rs1238514312 |
129 | V>A | No |
ClinGen TOPMed |
|
|
rs116360202 CA376712027 |
129 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5496561 RCV000873681 rs116360202 |
129 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1564446975 CA376711984 |
132 | E>Q | No |
ClinGen Ensembl |
|
|
CA5496560 rs759665340 |
133 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs766891583 CA5496558 |
134 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5496557 rs114768774 |
135 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5496554 rs748403975 |
137 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5496555 rs116698997 |
137 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471171212 CA376711885 |
139 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA206584955 rs781663379 |
141 | T>M | No |
ClinGen gnomAD |
|
|
rs1590488296 CA376710736 |
143 | C>R | No |
ClinGen Ensembl |
|
|
rs1357871183 COSM1205622 CA376710693 |
146 | S>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 151 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376710615 rs1564446177 |
151 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 152 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777478670 CA5496527 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755905226 CA5496526 |
155 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA206583825 rs961668800 |
158 | S>G | No |
ClinGen Ensembl |
|
|
rs908797851 CA206583820 |
158 | S>I | No |
ClinGen TOPMed |
|
|
CA376710505 rs1486809953 |
159 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769850417 CA5496525 |
160 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758479814 CA5496524 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750464264 CA376710466 |
162 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5496523 rs750464264 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376710459 rs1447884860 |
162 | A>V | No |
ClinGen TOPMed |
|
|
rs1045189730 CA206583764 |
164 | S>N | No |
ClinGen TOPMed |
|
|
rs762277865 CA5496521 |
165 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs567548745 CA206583744 |
165 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 166 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764437003 CA5496519 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs996939912 CA206583717 |
167 | I>M | No |
ClinGen Ensembl |
|
|
CA376710389 rs1227815590 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA376710370 rs1219379033 |
168 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376710334 rs1377658824 |
170 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1377658824 CA376710336 |
170 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA206583693 rs184894995 |
173 | S>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA376710292 rs184894995 |
173 | S>Y | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 175 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442811418 CA376710256 |
176 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs141372606 CA376710237 |
177 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141372606 CA5496515 |
177 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376710203 rs1355267555 |
179 | Y>C | No |
ClinGen gnomAD |
|
|
rs770450629 CA5496514 |
180 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA376710187 rs1288103707 |
180 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5496513 rs749223591 |
181 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA376709490 rs1272962297 |
184 | Q>* | No |
ClinGen gnomAD |
|
|
CA376709462 rs1428327445 |
186 | K>E | No |
ClinGen TOPMed |
|
|
rs1041205005 CA206581741 |
186 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 186 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376122913 CA376709436 |
187 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 188 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5496492 rs138822457 |
189 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376709391 rs776462885 |
190 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5496491 rs776462885 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376709367 rs1564445077 |
192 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 193 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328357103 CA376709308 |
196 | Q>R | No |
ClinGen TOPMed |
|
|
CA376709299 rs1309230061 |
197 | A>T | No |
ClinGen gnomAD |
|
|
rs146219430 CA5496490 |
197 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376709275 rs1370448307 |
198 | I>M | No |
ClinGen gnomAD |
|
|
rs1324973327 CA376709232 |
202 | A>S | No |
ClinGen gnomAD |
|
|
CA376709169 rs1441314089 |
206 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5496489 rs746159424 |
207 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA376709150 rs1156791806 |
207 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206581689 rs749319221 |
211 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369256002 CA5496487 |
211 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5496486 rs749319221 |
211 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376709029 rs1431101455 |
215 | E>D | No |
ClinGen gnomAD |
|
|
rs202126438 CA5496485 |
216 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202126438 CA376709018 |
216 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1051567321 CA206581676 |
216 | D>Y | No |
ClinGen Ensembl |
|
|
rs1275897017 CA376709002 |
217 | A>V | No |
ClinGen TOPMed |
|
|
rs367812837 CA5496459 |
219 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376755643 rs753790407 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753790407 CA5496457 |
221 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374395598 CA376755612 |
223 | S>G | No |
ClinGen gnomAD |
|
|
rs1472280704 CA376755546 |
227 | M>L | No |
ClinGen TOPMed |
|
|
rs1436211186 CA376755543 |
227 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376755517 rs1393784400 |
228 | L>P | No |
ClinGen gnomAD |
|
|
rs1167725262 CA376755478 |
230 | P>T | No |
ClinGen gnomAD |
|
|
CA376755466 rs1475915934 |
231 | V>I | No |
ClinGen gnomAD |
|
|
rs965743464 CA206620515 |
233 | E>K | No |
ClinGen Ensembl |
|
|
rs1375117599 CA376755420 |
234 | T>A | No |
ClinGen gnomAD |
|
|
rs1564442882 CA376755377 |
235 | A>P | No |
ClinGen Ensembl |
|
|
rs760414129 CA5496456 |
237 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5496455 rs142496478 |
241 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5496454 rs771739674 RCV000729115 |
241 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5496452 rs773561749 |
244 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748181487 CA376755204 |
245 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs748181487 CA5496450 |
245 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1252853286 CA376755145 |
247 | P>S | No |
ClinGen gnomAD |
|
|
rs747451736 CA5496447 |
249 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780509183 CA5496446 |
249 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5496445 rs758688919 |
250 | T>S | No |
ClinGen ExAC |
|
|
CA5496444 rs202175975 |
251 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398751173 CA376755024 |
253 | P>L | No |
ClinGen TOPMed |
|
| VAR_001216 | 255 | K>T | No | UniProt | |
|
CA376754952 rs1315858661 |
256 | Q>* | No |
ClinGen TOPMed |
|
|
CA376754948 rs1399165856 |
256 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206620457 rs373774673 |
264 | M>R | No |
ClinGen Ensembl |
|
|
CA5496440 rs764038554 |
264 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967255142 CA206620454 |
265 | L>H | No |
ClinGen gnomAD |
|
|
rs967255142 CA376754778 |
265 | L>P | No |
ClinGen gnomAD |
|
|
rs1199042452 CA376754766 |
266 | N>S | No |
ClinGen TOPMed |
|
|
rs548033657 CA5496437 |
268 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759238503 CA5496436 |
269 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs923535659 RCV000722969 |
270 | G>missing | No |
ClinVar dbSNP |
|
|
RCV000722415 CA891862837 rs1564442704 |
270 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs528081368 CA5496434 |
270 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5496435 RCV000728738 rs773581901 |
270 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs747621933 CA5496430 |
274 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1442559004 CA376754557 |
276 | A>T | No |
ClinGen gnomAD |
|
|
rs74693932 CA5496428 |
278 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5496427 rs374363185 |
282 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564442652 CA376754372 |
284 | E>A | No |
ClinGen Ensembl |
|
|
rs778562892 CA376754332 |
286 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs778562892 CA5496426 |
286 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs962257988 CA206620412 |
287 | K>R | No |
ClinGen TOPMed |
|
|
rs777302913 CA5496423 |
289 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA376754250 rs1159163328 |
290 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563356062 CA5496422 |
293 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376754174 rs1251327294 |
294 | A>S | No |
ClinGen gnomAD |
|
|
COSM918678 CA376754180 rs1251327294 |
294 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752737151 CA5496421 |
295 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA5496419 rs115643329 |
296 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376754120 rs1253361890 |
298 | A>T | No |
ClinGen gnomAD |
|
|
CA376754099 rs1223762999 |
300 | A>P | No |
ClinGen gnomAD |
|
|
CA5496418 rs373471724 |
300 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762167817 CA5496416 |
303 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764295401 CA5496414 |
305 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000584935 rs760618206 CA5496413 |
306 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA376753997 COSM3807285 rs1372271263 |
307 | P>A | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5496410 rs772414079 |
310 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5496409 rs746250916 |
310 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1564442536 CA376753872 |
312 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5496408 rs774743557 |
314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5496406 rs199899782 |
321 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1590475018 CA376753703 |
322 | S>Y | No |
ClinGen Ensembl |
|
|
CA376753594 rs1393318735 |
327 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs150065567 COSM1348088 CA5496405 |
327 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5496404 rs755663107 |
329 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA376753522 rs1192651141 |
331 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747545407 CA5496403 |
331 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1343581485 CA376753513 |
332 | I>F | No |
ClinGen TOPMed |
|
|
CA5496402 rs781212583 |
332 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs755016115 CA5496401 |
340 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489008250 CA376753348 |
341 | Q>H | No |
ClinGen gnomAD |
|
|
CA5496400 rs367965088 |
341 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414843012 CA376753319 |
343 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758257014 CA5496399 |
345 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209786479 CA376753240 |
349 | P>L | No |
ClinGen gnomAD |
|
|
rs754128408 CA5496397 |
351 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376753209 rs1160393978 |
351 | A>S | No |
ClinGen TOPMed |
|
|
CA376753202 rs754128408 |
351 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903050716 CA206620339 |
352 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1271329825 CA376753141 |
355 | W>C | No |
ClinGen gnomAD |
|
|
CA376753086 rs1590474748 |
359 | M>V | No |
ClinGen Ensembl |
|
|
rs752667183 CA5496394 |
361 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376753046 rs1418561890 |
361 | P>T | No |
ClinGen gnomAD |
|
|
CA206620329 rs767609722 |
362 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435584633 CA376753006 |
363 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA206620326 rs947200698 |
363 | A>T | No |
ClinGen TOPMed |
|
|
CA376753003 rs1435584633 |
363 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376752952 rs1177995093 |
368 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA376752904 rs1564442365 |
371 | E>D | No |
ClinGen Ensembl |
|
|
CA5496392 rs774833290 |
371 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5496391 rs774833290 |
371 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262014892 CA376752864 |
374 | Y>F | No |
ClinGen TOPMed |
|
|
CA376752853 rs1187104927 |
375 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5496387 rs763244874 |
377 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1485814112 CA376752812 |
378 | E>K | No |
ClinGen gnomAD |
|
|
CA206620308 rs56089364 |
382 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5496384 rs56089364 RCV000877492 |
382 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs747814000 CA5496382 |
383 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780608655 CA5496381 |
385 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs780608655 CA376752701 |
385 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758275606 CA5496376 |
389 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5496374 rs778075023 |
391 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376752606 rs1226553506 |
392 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1353767509 CA376752593 |
393 | A>T | No |
ClinGen gnomAD |
|
|
rs370925858 CA5496373 |
393 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5496372 rs569846055 |
394 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376752580 rs1467128923 |
394 | D>N | No |
ClinGen gnomAD |
|
|
rs569846055 CA206620266 |
394 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752073309 CA5496369 |
397 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA206620248 rs377357172 |
398 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA206620245 rs377357172 |
398 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 398 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376752487 rs1564442219 |
401 | D>N | No |
ClinGen Ensembl |
|
|
rs1366779161 CA376752465 |
402 | Y>C | No |
ClinGen TOPMed |
|
|
rs773498737 CA5496367 |
402 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376752450 rs1385055988 |
403 | E>D | No |
ClinGen TOPMed |
|
|
rs770164527 CA5496366 COSM3807283 |
403 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1436271973 CA376752404 |
408 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5496362 rs768296886 |
411 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA206620221 rs376040533 |
413 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5496360 rs376040533 |
413 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376752332 rs1461885607 |
416 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772090380 CA376752301 |
419 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5496359 rs772090380 |
419 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs777002239 CA206620216 |
420 | Q>E | No |
ClinGen Ensembl |
|
|
rs1156242603 CA376752267 |
422 | I>T | No |
ClinGen gnomAD |
|
|
rs1418152523 CA376752257 |
423 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 425 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376752225 rs1439096540 |
426 | F>I | No |
ClinGen TOPMed |
|
|
CA376752224 rs1439096540 |
426 | F>L | No |
ClinGen TOPMed |
|
|
CA376752222 rs1439096540 |
426 | F>V | No |
ClinGen TOPMed |
|
|
rs778610099 CA5496356 |
428 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1252759388 CA376752194 |
429 | S>G | No |
ClinGen gnomAD |
|
|
rs370292341 CA5496354 |
431 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000815019 CA5496353 rs781332656 |
433 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1238372734 CA376752141 |
434 | A>P | No |
ClinGen gnomAD |
|
|
rs1387267559 CA376752094 |
439 | V>I | No |
ClinGen TOPMed |
|
|
CA376752080 rs1317771897 |
440 | G>A | No |
ClinGen gnomAD |
|
|
CA376752081 rs1317771897 |
440 | G>E | No |
ClinGen gnomAD |
|
|
CA5496351 rs116733341 |
441 | E>G | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs755054032 CA5496349 |
443 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs751598627 CA5496348 |
444 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387291861 CA376752031 |
445 | G>E | No |
ClinGen gnomAD |
|
|
rs1167022514 CA376752037 |
445 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 446 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5496344 RCV000266194 rs750935710 |
447 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5496345 rs200818896 |
447 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452174369 CA376751968 |
452 | Y>C | No |
ClinGen gnomAD |
|
|
rs762176711 CA5496342 |
452 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776149423 CA5496341 |
453 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763796002 CA5496340 |
454 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA376751930 rs1435459745 |
456 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA206620148 rs888940189 |
457 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 457 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376751896 rs1249706413 |
459 | D>G | No |
ClinGen gnomAD |
|
|
rs760280622 CA5496339 |
460 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1209066771 CA376751847 |
463 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1259207001 CA376751851 |
463 | Q>P | No |
ClinGen TOPMed |
|
|
CA5496334 rs371544606 |
464 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5496335 rs371544606 |
464 | R>Q | Variant assessed as Somatic; 4.706e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA376751836 rs1181562384 |
465 | L>S | No |
ClinGen TOPMed |
|
|
CA5496333 rs749046917 |
465 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201935629 CA5495979 |
469 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5495977 rs771221191 |
474 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1037579008 CA206611858 |
474 | Q>R | No |
ClinGen Ensembl |
|
|
CA5495975 rs777886483 |
476 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376730196 rs1418941816 |
477 | E>G | No |
ClinGen gnomAD |
|
|
rs748921820 CA5495968 |
482 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 483 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495967 rs766622325 |
484 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750088876 CA5495965 |
485 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750088876 CA376730093 |
485 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236829441 CA376730077 |
486 | S>A | No |
ClinGen gnomAD |
|
|
CA376730055 rs1466991642 |
488 | E>K | No |
ClinGen TOPMed |
|
|
rs764842788 CA5495964 |
489 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5495963 rs761366414 |
489 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1343089582 CA376730015 |
490 | D>E | No |
ClinGen gnomAD |
|
|
CA376730022 rs1232031848 |
490 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150762517 CA5495961 CA376729937 |
494 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771748055 CA376729907 |
495 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749392467 CA5495959 COSM1348081 |
495 | E>K | large_intestine Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749392467 CA376729926 |
495 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376729822 rs1453707295 |
499 | V>G | No |
ClinGen gnomAD |
|
|
rs777906196 CA5495957 |
499 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495956 rs777906196 |
499 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161878403 CA376729813 |
500 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376729789 rs1325499671 |
501 | G>D | No |
ClinGen gnomAD |
|
|
CA5495954 rs748176822 |
502 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781113838 CA5495953 |
502 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481516583 CA376729751 |
503 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 509 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495933 rs141874502 |
510 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464456889 CA376729240 |
510 | Y>N | No |
ClinGen TOPMed |
|
|
rs1451119499 CA16621923 |
511 | Q>* | No |
ClinGen gnomAD |
|
|
CA376729232 rs1451119499 |
511 | Q>K | No |
ClinGen gnomAD |
|
|
rs1404428020 CA376729218 |
513 | T>A | No |
ClinGen gnomAD |
|
|
CA206608490 rs896726886 |
514 | G>V | No |
ClinGen Ensembl |
|
|
CA376729204 rs1337929506 |
515 | V>I | No |
ClinGen gnomAD |
|
|
RCV000627248 rs1554790012 CA376729169 |
517 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5495930 rs758853358 |
519 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5495929 rs746280615 |
520 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381306086 CA376729123 |
521 | L>S | No |
ClinGen TOPMed |
|
|
rs776514960 CA206608460 |
524 | Q>R | No |
ClinGen Ensembl |
|
|
CA376729067 rs1167571649 |
525 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1167571649 CA376729070 |
525 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753417618 CA5495926 |
526 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495927 rs757037155 |
526 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1322113138 CA376729022 |
530 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 533 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767394327 CA5495922 |
534 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1247720877 CA376728987 |
534 | M>V | No |
ClinGen gnomAD |
|
|
RCV001063950 rs774175886 CA5495920 |
536 | L>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1316422711 CA376728916 |
539 | T>I | No |
ClinGen gnomAD |
|
|
CA5495919 rs766162602 |
541 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA376728873 rs1334064557 |
542 | I>V | No |
ClinGen gnomAD |
|
|
rs1328222039 CA376728847 |
543 | I>T | No |
ClinGen gnomAD |
|
|
rs762156132 CA5495918 |
544 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs776663084 CA5495917 |
544 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768810263 CA5495916 |
547 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16618958 rs1064795562 RCV000483921 |
549 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs780446851 CA5495914 |
551 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376728682 rs1164135155 |
552 | S>G | No |
ClinGen gnomAD |
|
|
rs1851339301 RCV001055792 |
553 | K>* | No |
ClinVar dbSNP |
|
|
rs1161113429 CA376728618 |
555 | R>K | No |
ClinGen TOPMed |
|
|
rs1180526307 CA376728602 |
556 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs115582915 CA5495912 |
557 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5495911 rs41549213 |
557 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495908 rs777252763 |
562 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA376726663 rs1236251343 |
565 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA206604402 rs1036022665 |
566 | L>W | No |
ClinGen TOPMed |
|
|
rs1315875811 CA376726647 |
567 | G>V | No |
ClinGen gnomAD |
|
|
CA5495887 rs780742421 |
568 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751786870 CA5495885 |
569 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376726640 rs751786870 |
569 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs766629930 | 573 | C>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376726603 rs1192570117 |
575 | T>A | No |
ClinGen gnomAD |
|
|
CA376726592 rs1361909458 |
576 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 577 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376726574 rs1241836034 |
579 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376726566 rs1213371362 |
580 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 581 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194527614 CA376726551 |
582 | V>M | No |
ClinGen gnomAD |
|
|
rs200235830 CA206604361 |
583 | K>Q | No |
ClinGen Ensembl |
|
|
CA5495880 rs765071536 |
586 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5495878 rs767709344 |
587 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376726506 rs763486269 CA5495873 |
588 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495875 rs373522295 |
588 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495874 rs373522295 |
588 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376726500 rs1242443685 |
589 | W>C | No |
ClinGen TOPMed |
|
|
rs773516931 CA5495872 |
589 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA376726495 rs1336510061 |
590 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376726490 COSM32310 VAR_036021 rs1184760254 |
591 | P>A | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
CA5495868 rs768188064 |
593 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746568207 CA5495866 |
593 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA376726471 rs1177814245 |
594 | V>M | No |
ClinGen gnomAD |
|
|
CA206604311 rs1056671646 |
596 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs376250875 CA5495865 |
598 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778585863 CA5495862 |
601 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5495863 rs138758064 |
601 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376726421 rs1590428524 |
602 | S>C | No |
ClinGen Ensembl |
|
|
rs972879270 CA206604300 |
603 | Y>C | No |
ClinGen Ensembl |
|
|
rs963168603 CA5495860 |
604 | T>I | No |
ClinGen Ensembl |
|
|
CA376726408 rs963168603 |
604 | T>S | No |
ClinGen Ensembl |
|
|
CA5495859 rs757008329 |
605 | H>Y | Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA206604290 rs961060711 |
606 | K>E | No |
ClinGen TOPMed |
|
|
CA376726397 rs1437414291 |
606 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5495857 rs200832611 |
607 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229284794 CA376726388 |
607 | K>N | No |
ClinGen TOPMed |
|
|
CA376725275 rs1564424004 |
611 | I>M | No |
ClinGen Ensembl |
|
|
CA376725235 rs1303110191 |
615 | A>S | No |
ClinGen TOPMed |
|
|
rs777770092 CA5495824 |
623 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs755918437 CA5495823 |
629 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468281496 CA376725051 |
629 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780286121 CA5495821 |
630 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA376725020 rs1222900775 |
631 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 631 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206596291 rs1018233266 |
633 | D>G | No |
ClinGen TOPMed |
|
|
CA376724977 rs1269117037 |
634 | D>G | No |
ClinGen gnomAD |
|
|
rs758433804 CA5495820 |
634 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750554118 CA5495819 |
636 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206596266 rs1054617930 |
636 | S>N | No |
ClinGen gnomAD |
|
|
rs1305048710 CA376724929 |
638 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376724932 rs1250597594 |
638 | Y>H | No |
ClinGen TOPMed |
|
|
CA376724909 rs1248544568 |
639 | D>E | No |
ClinGen gnomAD |
|
|
rs1210099678 CA376724890 |
640 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 641 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376724847 rs1233450547 |
643 | V>A | No |
ClinGen gnomAD |
|
|
rs1262184628 CA376724853 |
643 | V>M | No |
ClinGen gnomAD |
|
|
CA376724840 rs1293835740 |
644 | I>V | No |
ClinGen gnomAD |
|
|
rs1366626540 CA376724817 |
646 | D>N | No |
ClinGen gnomAD |
|
|
CA376724803 rs1163269726 |
647 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376724771 rs1405364511 |
649 | H>R | No |
ClinGen gnomAD |
|
|
rs760987098 CA5495814 |
649 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
VAR_036022 rs1365187961 COSM33281 CA376724730 |
652 | R>L | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
COSM1348078 rs1365187961 CA376724728 |
652 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1169529231 CA376724700 |
655 | N>D | No |
ClinGen gnomAD |
|
|
rs1467736623 CA376724687 |
655 | N>K | No |
ClinGen gnomAD |
|
|
CA5495812 rs759080988 |
656 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA376724675 rs1168116183 |
657 | A>S | No |
ClinGen gnomAD |
|
|
COSM1187942 rs1590418218 CA376724670 |
657 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1390782294 CA376724609 |
662 | C>* | No |
ClinGen gnomAD |
|
|
rs1190418936 CA376724600 |
663 | K>T | No |
ClinGen gnomAD |
|
|
CA5495791 rs200272551 |
665 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376724481 rs1564423661 |
667 | T>S | No |
ClinGen Ensembl |
|
|
rs768273370 CA5495787 |
669 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA206595798 rs1033353171 |
670 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376724465 rs1033353171 |
670 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5495786 rs746104327 |
671 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1330291285 CA376724438 |
675 | G>S | No |
ClinGen TOPMed |
|
|
COSM1348077 rs749619397 CA206595768 |
677 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs777797420 CA5495782 |
678 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA376724392 rs1165952833 |
681 | N>K | No |
ClinGen gnomAD |
|
|
rs753133270 CA5495780 |
682 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA376724372 rs1275257135 |
685 | L>P | No |
ClinGen TOPMed |
|
|
CA206595759 rs577381204 |
685 | L>V | No |
ClinGen gnomAD |
|
|
CA376724369 rs1429901538 |
686 | W>R | No |
ClinGen gnomAD |
|
|
rs749996750 CA5495776 |
688 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5495774 rs199921831 |
693 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376724299 rs1247589237 |
696 | K>R | No |
ClinGen gnomAD |
|
|
CA376724281 rs1590417517 |
699 | T>A | No |
ClinGen Ensembl |
|
|
CA376724271 rs1445730075 |
700 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 701 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495767 rs372945029 |
705 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1331321733 CA376724230 |
706 | Q>R | No |
ClinGen gnomAD |
|
|
CA376724220 rs1261568867 |
707 | F>L | No |
ClinGen gnomAD |
|
|
CA376724213 rs1344070217 |
708 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM141289 rs1272456791 CA376724185 |
713 | M>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs201486862 CA5495763 |
713 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5495760 rs780538788 |
715 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390129621 CA376724165 |
716 | Y>F | No |
ClinGen gnomAD |
|
|
CA376724148 rs1170760627 |
719 | A>T | No |
ClinGen Ensembl |
|
|
rs1444560191 CA376724137 |
720 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs531091147 CA5495758 |
722 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5495757 rs756678342 |
723 | Q>R | No |
ClinGen ExAC |
|
|
CA206593052 rs921444692 |
730 | C>S | No |
ClinGen Ensembl |
|
|
rs114423177 CA5495732 |
731 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114423177 CA5495731 |
731 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376723807 rs1285612474 |
732 | C>S | No |
ClinGen gnomAD |
|
|
rs201930958 COSM218274 CA5495730 |
735 | R>Q | pancreas skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5495727 rs776098507 |
736 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs372128351 CA5495726 |
737 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373277796 CA5495725 |
738 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982932325 CA206592989 |
743 | L>P | No |
ClinGen TOPMed |
|
|
CA5495721 rs755554536 |
744 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5495720 rs755554536 |
744 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5495722 rs368188837 |
744 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376723591 rs1413002384 |
747 | K>E | No |
ClinGen TOPMed |
|
|
CA376723564 rs1390568048 |
749 | D>G | No |
ClinGen TOPMed |
|
|
CA206592946 rs967392743 |
749 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs754891486 CA5495717 |
754 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781059636 CA5495718 |
754 | L>V | No |
ClinGen ExAC |
|
|
CA376723464 rs1291337906 |
757 | P>S | No |
ClinGen gnomAD |
|
|
CA376723443 rs1435464850 |
758 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 758 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 759 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495715 rs766195719 |
762 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA376722804 rs1434548237 |
763 | V>I | No |
ClinGen gnomAD |
|
|
CA206591429 rs1050679421 |
764 | L>F | No |
ClinGen TOPMed |
|
|
RCV000722899 CA376722761 rs1157637875 |
765 | F>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs878853067 CA10581357 RCV000224794 |
766 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5495696 rs370105701 |
767 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM427635 rs56397747 CA5495695 |
767 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5495694 rs758168100 |
769 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs202046174 CA206591384 |
770 | D>E | No |
ClinGen gnomAD |
|
|
CA376722625 rs1284362109 |
773 | H>R | No |
ClinGen TOPMed |
|
|
CA5495693 rs559306653 |
775 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376722579 rs1323191631 |
776 | Y>H | No |
ClinGen TOPMed |
|
|
CA206591381 rs918474711 |
777 | Q>K | No |
ClinGen TOPMed |
|
|
CA376722557 rs1270572202 |
777 | Q>R | No |
ClinGen TOPMed |
|
|
CA376722514 rs114490473 |
779 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5495692 rs764456630 |
779 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5495690 rs762128995 COSM190811 |
780 | V>I | oesophagus large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA376722461 rs1464061215 |
783 | K>E | No |
ClinGen gnomAD |
|
|
CA5495689 rs767691315 |
784 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147231237 CA5495688 |
785 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143332960 CA5495687 |
786 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206591346 rs948909155 |
787 | R>G | No |
ClinGen TOPMed |
|
|
CA376722380 rs1211334191 |
788 | I>V | No |
ClinGen gnomAD |
|
|
CA5495684 rs773544808 |
793 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1174268737 CA376722301 |
793 | M>V | No |
ClinGen TOPMed |
|
|
CA376722277 rs1228233360 |
794 | Q>R | No |
ClinGen gnomAD |
|
|
CA376721919 rs1564420091 |
796 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 798 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495651 rs751703364 |
798 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181838986 CA5495650 |
799 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369864700 CA376721882 |
800 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369864700 CA5495648 |
800 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206588128 rs137940039 |
800 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA376721876 rs1435161794 |
801 | A>T | No |
ClinGen gnomAD |
|
|
rs765594141 CA5495647 |
801 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 804 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199588 rs375810438 RCV000170379 |
806 | C>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376721821 rs1403282743 |
806 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 810 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376721736 COSM1297293 rs1208368572 |
813 | S>F | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs760238086 CA5495643 |
814 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA376721719 rs1244031899 |
815 | G>V | No |
ClinGen TOPMed |
|
|
rs1488711332 CA376721709 |
817 | K>Q | No |
ClinGen TOPMed |
|
|
CA5495642 rs775122052 |
817 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5495641 rs771424857 |
819 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs115788540 CA5495640 |
820 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5495639 rs774391199 |
820 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495638 rs201939424 |
826 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777400318 CA5495636 |
827 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA376721599 rs115875661 |
827 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs886047036 | 829 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 830 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206588012 rs946001428 |
837 | R>C | No |
ClinGen TOPMed |
|
|
rs77027474 CA5495634 |
837 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs976745111 CA206587971 |
838 | S>C | No |
ClinGen Ensembl |
|
|
CA376721406 rs1297983028 |
843 | V>F | No |
ClinGen TOPMed |
|
|
rs758410428 CA5495632 |
845 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750945881 CA5495631 |
846 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761812362 CA206587941 |
847 | L>S | No |
ClinGen TOPMed |
|
|
rs148208319 CA206587931 |
849 | K>T | No |
ClinGen ESP |
|
|
rs757727257 CA5495629 |
851 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1411748395 CA376721293 |
853 | K>M | No |
ClinGen gnomAD |
|
|
rs754265680 CA5495628 |
854 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5495627 rs146786861 |
855 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5495626 rs146786861 |
855 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs111879751 CA206587892 |
858 | V>A | No |
ClinGen Ensembl |
|
|
rs1031601907 CA206587895 |
858 | V>I | No |
ClinGen TOPMed |
|
|
rs767084788 CA5495624 |
859 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1250994088 CA376721231 |
860 | L>Q | No |
ClinGen gnomAD |
|
|
rs773976648 CA5495622 |
862 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376721204 rs1287077084 |
863 | Q>R | No |
ClinGen gnomAD |
|
|
rs921680313 CA376721194 |
864 | S>* | No |
ClinGen TOPMed |
|
|
CA206587891 rs921680313 |
864 | S>L | No |
ClinGen TOPMed |
|
|
rs762980922 CA5495620 |
865 | R>K | Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761558075 CA5495598 |
867 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318810998 CA376720381 |
869 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM280851 CA206587440 rs1003526208 |
869 | D>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1564419685 CA376720336 |
872 | E>A | No |
ClinGen Ensembl |
|
|
rs534095433 CA5495597 |
873 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376720321 rs534095433 |
873 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772344335 CA5495596 |
874 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1420639024 CA376720252 |
877 | A>S | No |
ClinGen gnomAD |
|
|
CA376720257 rs1420639024 |
877 | A>T | No |
ClinGen gnomAD |
|
|
rs774425283 CA5495594 |
877 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273686756 CA376720232 |
878 | Q>L | No |
ClinGen TOPMed |
|
|
rs1273686756 CA376720235 |
878 | Q>P | No |
ClinGen TOPMed |
|
|
CA5495593 rs368646756 |
880 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190497532 CA376720205 |
880 | Y>H | No |
ClinGen gnomAD |
|
|
CA5495591 rs116431130 |
882 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464198195 CA376720155 |
883 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5495590 rs756622786 |
884 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779850702 RCV001243744 |
889 | T>missing | No |
ClinVar dbSNP |
|
|
CA5495588 rs748502209 |
890 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5495587 rs781688378 |
891 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376719948 rs1373327479 |
893 | S>L | No |
ClinGen gnomAD |
|
|
CA376719961 rs1235593868 |
893 | S>T | No |
ClinGen gnomAD |
|
|
CA376719927 rs1434429264 |
894 | R>S | No |
ClinGen gnomAD |
|
|
CA5495585 rs751201355 |
895 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs765994765 CA5495584 |
895 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs757810107 CA5495583 |
896 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750401832 CA5495582 |
898 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5495579 rs548455303 |
901 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs932417327 CA206587310 |
902 | N>D | No |
ClinGen Ensembl |
|
|
CA206587299 rs375669224 |
902 | N>K | No |
ClinGen Ensembl |
|
|
rs763811839 CA5495578 |
902 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376719737 rs1262001304 |
903 | E>D | No |
ClinGen gnomAD |
|
|
rs1253190448 CA376719606 |
905 | T>A | No |
ClinGen gnomAD |
|
|
rs74733025 CA5495555 |
905 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376719590 rs1321414601 |
906 | S>A | No |
ClinGen gnomAD |
|
|
CA5495554 rs377373795 |
906 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA376719569 rs1564419333 RCV000722777 |
907 | I>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5495552 rs762238572 |
907 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777226382 CA5495551 |
909 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747413351 CA5495549 |
911 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397084598 CA376719484 |
912 | L>V | No |
ClinGen gnomAD |
|
|
rs780557032 CA5495548 |
913 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs142580756 CA5495547 |
914 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753804966 CA376719444 |
915 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753804966 CA5495543 |
915 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs114093805 CA5495544 |
915 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777727975 CA5495542 |
916 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253275181 CA376719400 |
918 | G>S | No |
ClinGen gnomAD |
|
|
rs1318015125 CA376719357 |
920 | G>D | No |
ClinGen TOPMed |
|
|
CA5495539 rs568933083 |
922 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376719312 rs1180657741 |
922 | N>S | No |
ClinGen Ensembl |
|
|
rs1343984258 CA376719301 |
923 | L>M | No |
ClinGen TOPMed |
|
|
rs550516110 CA5495538 |
924 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765252538 CA5495535 |
926 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs984064183 CA206586747 |
927 | N>S | No |
ClinGen Ensembl |
|
|
rs1309048010 CA376719188 |
929 | V>A | No |
ClinGen gnomAD |
|
|
CA5495533 rs776817300 |
931 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA376719167 rs776817300 |
931 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs147121546 CA5495532 |
932 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206586707 rs997120106 |
933 | D>V | No |
ClinGen TOPMed |
|
|
rs538758429 CA206586687 |
934 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1554875536 RCV000591568 CA376719102 |
934 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA206586686 rs41557921 |
935 | D>H | No |
ClinGen Ensembl |
|
|
rs1445224925 CA376719043 |
936 | W>C | No |
ClinGen TOPMed |
|
|
CA376719064 rs1470716940 |
936 | W>R | No |
ClinGen gnomAD |
|
|
rs1366063995 CA376719040 |
937 | N>D | No |
ClinGen gnomAD |
|
|
rs965242028 CA206586685 |
937 | N>T | No |
ClinGen Ensembl |
|
|
rs776004687 CA5495529 |
940 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776004687 CA376718969 |
940 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 941 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251402577 CA376718751 |
944 | A>T | No |
ClinGen TOPMed |
|
|
CA5495500 rs769234947 |
945 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1726216 rs772713214 CA5495501 |
945 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5495499 rs748104956 |
950 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1364143853 CA376718628 |
951 | I>T | No |
ClinGen TOPMed |
|
|
CA206586237 rs1046584167 |
953 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5495496 rs746867691 |
959 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376718509 rs1368341508 |
960 | Y>C | No |
ClinGen TOPMed |
|
|
CA376718502 rs1564730179 |
961 | R>G | No |
ClinGen Ensembl |
|
|
rs200291655 CA5495494 |
964 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754058694 RCV001310922 CA5495493 |
965 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756223998 CA5495491 |
966 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1237578844 CA376718445 |
966 | G>V | No |
ClinGen TOPMed |
|
|
rs752689734 CA5495490 |
968 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495488 rs759947839 |
969 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs768119446 CA5495489 |
969 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs921275033 TCGA novel CA206586116 |
971 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA376718375 rs1341106554 |
972 | I>F | No |
ClinGen gnomAD |
|
|
CA5495487 rs552099159 |
972 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376718360 rs1590407442 |
973 | Y>S | No |
ClinGen Ensembl |
|
|
rs199581226 CA376718343 |
974 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199581226 CA206586096 |
974 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs145720191 CA5495483 |
975 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 982 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747651923 RCV000494454 |
984 | N>missing | No |
ClinVar dbSNP |
|
|
CA376717840 rs1335539393 |
984 | N>I | No |
ClinGen TOPMed |
|
|
CA376717824 rs1564729682 |
985 | R>K | No |
ClinGen Ensembl |
|
|
rs1192424921 CA376717812 |
986 | V>A | No |
ClinGen gnomAD |
|
|
CA206585284 rs41555612 |
986 | V>M | No |
ClinGen Ensembl |
|
|
rs760686954 CA5495461 |
987 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376717800 rs121917905 |
987 | L>R | Cerebrooculofacioskeletal syndrome 1 (cofs1) [Ensembl] | No |
ClinGen TOPMed |
|
CA5495460 rs775532307 |
988 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225936444 CA376717702 |
994 | R>Q | No |
ClinGen gnomAD |
|
|
rs745709338 CA5495458 |
994 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA376717699 rs1369390265 |
995 | F>L | No |
ClinGen gnomAD |
|
|
rs1472247694 CA376717684 |
996 | F>L | No |
ClinGen TOPMed |
|
|
CA5495456 rs766459533 |
997 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049759130 CA206585214 |
998 | S>C | No |
ClinGen gnomAD |
|
|
CA5495453 rs754962598 |
1000 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1564729633 CA376717619 |
1000 | D>Y | No |
ClinGen Ensembl |
|
|
rs4253206 CA5495451 VAR_016304 |
1002 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5495452 rs747581337 |
1002 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495447 rs753388562 |
1010 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756951136 CA5495448 |
1010 | P>S | No |
ClinGen ExAC |
|
|
CA376717456 rs1184355701 |
1011 | D>G | No |
ClinGen gnomAD |
|
|
rs760146233 CA5495446 |
1012 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399462552 CA376717446 |
1012 | A>T | No |
ClinGen gnomAD |
|
|
rs760146233 CA5495445 |
1012 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775119058 CA5495444 |
1015 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5495442 rs759542213 CA5495443 |
1015 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774293345 CA5495441 |
1016 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA206584996 rs762205885 |
1025 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA376717199 rs1225942149 |
1025 | T>I | No |
ClinGen TOPMed |
|
|
CA5495418 rs373893264 |
1026 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1474441899 CA376717163 |
1028 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376717147 rs1189056021 |
1029 | V>A | No |
ClinGen gnomAD |
|
|
rs1417536821 CA376717156 |
1029 | V>I | No |
ClinGen gnomAD |
|
|
CA376717140 rs1249014866 |
1030 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5495416 rs747223564 |
1031 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747223564 CA5495415 |
1031 | T>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001055175 rs755974092 |
1032 | P>missing | No |
ClinVar dbSNP |
|
|
CA5495414 rs775549101 |
1032 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs772094804 CA5495413 |
1033 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1034 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1035 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206584949 rs1038498892 |
1035 | H>L | No |
ClinGen TOPMed |
|
|
CA376717069 rs1486551929 |
1035 | H>Y | No |
ClinGen TOPMed |
|
|
rs771450153 CA5495410 |
1036 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_036023 | 1038 | R>T | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA5495408 rs749674398 |
1039 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778197774 CA5495407 |
1040 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs755833828 CA5495406 |
1041 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA376716928 rs139007661 |
1041 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1347404070 CA376716914 |
1042 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1043 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376716823 rs1166175317 |
1046 | A>V | No |
ClinGen gnomAD |
|
|
rs1459764314 CA376716801 |
1047 | D>E | No |
ClinGen gnomAD |
|
|
CA5495403 rs766274422 |
1048 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766274422 CA5495402 |
1048 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206584913 rs1008107416 |
1049 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1363312693 CA376716764 |
1049 | D>G | No |
ClinGen TOPMed |
|
|
CA5495401 rs545145840 |
1049 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376716751 rs139932923 |
1050 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495400 rs139932923 |
1050 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765012066 CA5495399 |
1053 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376716671 rs1240149298 COSM275005 |
1053 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA376716666 rs1240149298 |
1053 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376716661 rs1191803905 |
1054 | K>E | No |
ClinGen gnomAD |
|
|
rs1590406100 CA376716655 |
1054 | K>R | No |
ClinGen Ensembl |
|
|
CA206584910 rs935035148 |
1056 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200885276 CA5495397 |
1057 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200885276 CA206584907 |
1057 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA376716609 rs200885276 |
1057 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772254660 CA5495396 |
1060 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA5495395 rs759664342 |
1060 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376716538 rs1329171700 |
1061 | I>L | No |
ClinGen gnomAD |
|
|
CA5495393 rs148475034 |
1063 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376716488 rs1438060084 |
1064 | N>D | No |
ClinGen gnomAD |
|
|
rs770234264 CA5495390 |
1064 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1254086058 CA376716467 |
1065 | D>Y | No |
ClinGen TOPMed |
|
|
rs1388912671 CA376716439 |
1066 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA206584880 rs896621508 |
1068 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747833717 CA5495389 |
1069 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA376716379 rs1454808450 |
1070 | E>D | No |
ClinGen gnomAD |
|
|
CA376716359 rs1171931512 |
1071 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5495388 rs781029434 |
1071 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5495386 rs574011598 |
1075 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779608430 CA5495385 |
1076 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1850762108 RCV001205273 |
1077 | G>missing | No |
ClinVar dbSNP |
|
|
CA206584868 rs41555314 |
1077 | G>R | No |
ClinGen Ensembl |
|
|
rs758268075 CA5495384 |
1078 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5495382 rs776367874 |
1082 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354394440 CA376716159 |
1082 | A>V | No |
ClinGen gnomAD |
|
|
CA376716132 rs1463271489 |
1084 | T>S | No |
ClinGen TOPMed |
|
|
CA5495381 rs761638923 |
1086 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5495380 rs144445150 |
1087 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495379 COSM918656 rs767788819 |
1087 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1236758512 CA376716072 |
1088 | S>R | No |
ClinGen gnomAD |
|
|
CA206584847 rs866402704 |
1089 | D>N | No |
ClinGen Ensembl |
|
|
CA376716046 rs1438222649 |
1090 | P>A | No |
ClinGen gnomAD |
|
|
rs1324299242 CA376716031 |
1091 | L>V | No |
ClinGen gnomAD |
|
|
CA5495378 rs370757757 |
1093 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376715976 rs1383126160 |
1094 | D>N | No |
ClinGen gnomAD |
|
|
rs1311535007 CA376715952 |
1095 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs4253208 CA5495377 |
1095 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5495375 rs773727974 |
1096 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763394450 CA5495376 |
1096 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777122101 CA5495373 |
1102 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768486648 CA5495372 |
1103 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1590405866 CA376715787 |
1104 | N>H | No |
ClinGen Ensembl |
|
|
CA5495371 rs558274645 |
1104 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5495370 rs757873730 |
1105 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495369 rs757873730 |
1105 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914256108 CA206584730 |
1106 | R>K | No |
ClinGen Ensembl |
|
|
rs778873369 CA5495367 |
1107 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143502251 CA5495366 |
1108 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531562463 CA206584713 |
1108 | G>V | No |
ClinGen gnomAD |
|
|
CA376715677 rs1337120750 |
1110 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1110 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409921727 CA376715648 |
1112 | N>H | No |
ClinGen TOPMed |
|
|
CA5495365 rs746481213 |
1113 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755171192 CA5495363 |
1114 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1321390305 CA376715565 |
1116 | G>A | No |
ClinGen TOPMed |
|
| VAR_036024 | 1119 | E>Q | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| VAR_036025 | 1119 | E>V | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs375628281 CA206584693 |
1125 | G>A | No |
ClinGen ESP TOPMed |
|
|
rs1336304781 CA376715342 |
1127 | G>R | No |
ClinGen gnomAD |
|
|
rs147079519 CA5495359 |
1131 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA206584630 rs1019412556 |
1132 | S>P | No |
ClinGen TOPMed |
|
|
CA376715166 rs1396047201 |
1134 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA376715155 rs1396047201 |
1134 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5495356 rs777136413 |
1138 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762401051 CA5495357 |
1138 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs777136413 CA376715052 |
1138 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772100335 CA206584595 |
1140 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1185503704 CA376714944 |
1142 | S>F | No |
ClinGen gnomAD |
|
|
rs953886944 CA206584589 |
1142 | S>P | No |
ClinGen Ensembl |
|
|
CA5495353 rs371109408 |
1144 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275630513 CA376714916 |
1144 | D>N | No |
ClinGen TOPMed |
|
|
CA5495352 rs115698897 |
1146 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376714849 rs1211626560 |
1146 | S>N | No |
ClinGen gnomAD |
|
|
CA376714804 rs1271883467 |
1147 | I>T | No |
ClinGen gnomAD |
|
|
rs140604939 CA206584546 |
1148 | D>V | No |
ClinGen ESP |
|
|
CA5495349 rs778394934 |
1152 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495350 rs778394934 |
1152 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111317675 CA206584506 |
1154 | S>P | No |
ClinGen Ensembl |
|
|
CA5495346 rs777568431 |
1155 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5495345 rs755899444 |
1156 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752401611 CA5495344 |
1157 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA376714529 rs1471972426 |
1158 | E>K | No |
ClinGen TOPMed |
|
|
CA376714527 rs1471972426 |
1158 | E>Q | No |
ClinGen TOPMed |
|
|
rs1169862433 CA376714502 |
1159 | R>G | No |
ClinGen TOPMed |
|
|
CA5495343 rs200360361 |
1159 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5495340 rs146540023 |
1163 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495339 rs146540023 |
1163 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377711653 CA5495338 |
1164 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495337 rs764394351 |
1165 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1166 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376714293 rs1468186846 |
1167 | A>D | No |
ClinGen gnomAD |
|
|
rs1590405588 CA376714282 |
1168 | F>V | No |
ClinGen Ensembl |
|
|
CA376714264 rs1590405582 |
1169 | W>R | No |
ClinGen Ensembl |
|
|
CA376714163 rs1158741451 |
1173 | Q>* | No |
ClinGen gnomAD |
|
|
rs548520334 CA5495336 |
1173 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548520334 CA376714157 |
1173 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775707591 CA5495335 |
1175 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA206584394 rs369745517 |
1176 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs751679682 CA5495333 |
1177 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1178 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495331 rs536757172 |
1179 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5495330 rs773865593 |
1180 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs144328884 CA376713941 CA5495327 |
1181 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5495329 rs770380323 |
1181 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5495326 rs769594258 |
1182 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1182 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376713906 rs1342346410 |
1183 | S>P | No |
ClinGen TOPMed |
|
|
rs1439930499 CA376713880 |
1184 | K>R | No |
ClinGen gnomAD |
|
|
CA376713869 rs1350215226 |
1185 | T>P | No |
ClinGen gnomAD |
|
|
CA5495325 rs748033001 |
1185 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1350215226 CA376713864 |
1185 | T>S | No |
ClinGen gnomAD |
|
|
rs1398927624 CA376713807 |
1187 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA376713804 rs1398927624 |
1187 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs942462844 CA206584364 |
1189 | S>N | No |
ClinGen TOPMed |
|
|
rs780843888 CA5495323 |
1190 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs758647483 CA5495322 |
1193 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5495321 rs114479292 RCV000907354 RCV000360921 |
1194 | E>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5495320 rs779153104 |
1195 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs369489725 CA206584346 |
1196 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757369362 CA5495319 |
1197 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757369362 CA376713567 |
1197 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056502336 CA206584301 |
1198 | K>E | No |
ClinGen Ensembl |
|
|
rs368907663 CA5495317 |
1199 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761086051 CA5495316 |
1199 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs267602507 CA206584267 |
1202 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1369968395 CA376713443 |
1202 | P>S | No |
ClinGen gnomAD |
|
|
CA5495314 rs767716858 |
1203 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1211840867 CA376713390 |
1204 | Q>* | No |
ClinGen Ensembl |
|
|
rs1359825297 CA376713308 |
1207 | K>E | No |
ClinGen gnomAD |
|
|
CA5495312 rs773955400 |
1209 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs773955400 CA206584222 |
1209 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA376713244 rs1421008948 |
1210 | K>E | No |
ClinGen gnomAD |
|
|
CA5495311 rs770541513 |
1211 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388056621 CA376713214 |
1211 | H>Y | No |
ClinGen TOPMed |
|
|
CA206584193 rs113944820 |
1213 | R>I | No |
ClinGen Ensembl |
|
|
rs146493285 CA376713136 |
1214 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495306 VAR_037436 rs34704611 RCV000515027 |
1220 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs529174213 RCV001230129 CA5495304 |
1221 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5495303 rs200431100 COSM918653 |
1221 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445766431 CA376712971 |
1223 | P>A | No |
ClinGen gnomAD |
|
|
CA376712961 rs1274783426 |
1223 | P>L | No |
ClinGen TOPMed |
|
|
CA376712964 rs1274783426 |
1223 | P>R | No |
ClinGen TOPMed |
|
|
rs1339542140 CA376712948 |
1224 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5495301 rs777652521 |
1224 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1268827507 CA376712928 |
1226 | V>M | No |
ClinGen TOPMed |
|
|
rs767956069 CA5495298 |
1229 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5495297 rs755377100 |
1230 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495296 rs4253211 |
1230 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376712799 rs1477718702 |
1233 | K>T | No |
ClinGen gnomAD |
|
|
CA5495294 rs372743065 |
1237 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474544191 CA376712697 |
1238 | N>K | No |
ClinGen gnomAD |
|
|
CA5495291 RCV000728249 rs142219494 |
1240 | S>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1240 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1240 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761827662 CA5495290 |
1241 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5495289 rs776389883 |
1242 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768680674 CA5495288 |
1243 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5495286 rs775424153 |
1243 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746861269 CA5495287 |
1243 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1377027379 CA376712538 |
1245 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1247 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258521189 CA376712496 |
1247 | N>K | No |
ClinGen gnomAD |
|
|
rs974359761 CA206584027 |
1249 | D>A | No |
ClinGen gnomAD |
|
|
rs114234514 RCV000359194 CA5495284 RCV000871694 |
1249 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756108342 CA5495282 |
1250 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA376712379 rs1487649497 |
1254 | K>E | No |
ClinGen Ensembl |
|
|
CA376712341 rs1464826740 |
1255 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA376712353 rs1464826740 |
1255 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs35756610 CA5495280 |
1258 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376708831 rs541909446 |
1260 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541909446 CA5495264 |
1260 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1487381418 CA376708827 |
1261 | G>S | No |
ClinGen gnomAD |
|
|
CA5495263 rs115319252 |
1262 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5495262 rs115319252 |
1262 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA376708793 rs1382426722 |
1263 | H>R | No |
ClinGen gnomAD |
|
|
rs781243820 CA5495261 |
1265 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755479389 CA5495260 |
1266 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210204588 CA376708724 |
1267 | K>R | No |
ClinGen gnomAD |
|
|
rs1427584938 CA376708704 |
1268 | H>R | No |
ClinGen TOPMed |
|
|
CA206576386 rs757218885 |
1269 | D>A | No |
ClinGen gnomAD |
|
|
CA376708695 rs1258819525 |
1269 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5495258 rs369634749 |
1271 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376708617 rs199686337 |
1273 | D>E | No |
ClinGen TOPMed |
|
|
CA5495257 rs115686725 |
1273 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5495256 rs115686725 |
1273 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376708607 rs1564725914 |
1274 | G>E | No |
ClinGen Ensembl |
|
|
rs1231671919 CA376708585 |
1276 | S>N | No |
ClinGen gnomAD |
|
|
CA376708586 rs1311037216 |
1276 | S>R | No |
ClinGen gnomAD |
|
|
rs1324686182 CA376708551 |
1278 | D>E | No |
ClinGen gnomAD |
|
|
rs778477262 CA5495255 |
1278 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs202160105 CA5495254 |
1279 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs763644445 CA5495252 |
1283 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA5495250 rs752642347 |
1286 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1477858337 CA376708432 |
1287 | N>I | No |
ClinGen gnomAD |
|
|
CA376708425 rs1199305335 COSM918652 |
1288 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs759300101 CA5495249 |
1289 | V>G | No |
ClinGen ExAC |
|
|
CA5495248 rs774185021 |
1290 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA376708412 rs1564725860 |
1291 | Q>* | No |
ClinGen Ensembl |
|
|
rs1215754351 CA376708410 |
1291 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1300357287 CA376708402 |
1292 | D>G | No |
ClinGen TOPMed |
|
|
rs139509516 CA5495245 |
1296 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495244 rs139509516 |
1296 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747541056 CA5495243 |
1296 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297162137 CA376708374 |
1297 | L>P | No |
ClinGen gnomAD |
|
|
rs200516416 CA5495240 |
1299 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376708359 rs1277930972 |
1300 | S>P | No |
ClinGen gnomAD |
|
|
CA5495237 rs753496156 |
1301 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403192066 CA376708346 |
1302 | Q>H | No |
ClinGen gnomAD |
|
|
CA5495236 rs375878979 |
1302 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495233 rs767621835 |
1303 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767621835 CA5495234 |
1303 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495235 rs755725628 |
1303 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376708339 rs1173513523 |
1304 | C>F | No |
ClinGen gnomAD |
|
|
CA5495232 rs371533699 |
1305 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376708323 rs1478139768 |
1307 | A>P | No |
ClinGen gnomAD |
|
|
rs776789596 CA5495228 |
1308 | V>G | No |
ClinGen ExAC |
|
|
CA5495227 rs768832103 |
1312 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495226 rs760790493 |
1313 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1313 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775531195 CA5495225 |
1315 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1167014744 CA376708267 |
1316 | G>D | No |
ClinGen TOPMed |
|
|
rs1590397781 CA376708272 |
1316 | G>S | No |
ClinGen Ensembl |
|
|
rs937200876 CA206576216 |
1317 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5495224 rs772464804 |
1318 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA206576208 rs375358678 |
1319 | G>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 1320 | I>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1323 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590397733 CA376708223 |
1324 | P>S | No |
ClinGen Ensembl |
|
|
rs201495726 CA206576195 |
1328 | K>E | No |
ClinGen Ensembl |
|
|
CA376708183 rs1444648908 |
1328 | K>N | No |
ClinGen gnomAD |
|
|
RCV001037068 rs760027420 |
1329 | S>missing | No |
ClinVar dbSNP |
|
|
rs58985498 CA206575483 |
1329 | S>C | No |
ClinGen Ensembl |
|
|
CA5495206 rs767587702 |
1334 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1335 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332240327 CA376708127 |
1336 | N>S | No |
ClinGen gnomAD |
|
|
CA5495205 rs759996832 |
1337 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759996832 CA376708119 |
1337 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116715649 CA5495204 |
1339 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5495203 rs200428567 |
1339 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376708103 rs1404754899 |
1340 | S>P | No |
ClinGen gnomAD |
|
|
rs1414445787 CA376708096 |
1341 | V>L | No |
ClinGen gnomAD |
|
|
TCGA novel CA376708098 rs1414445787 |
1341 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1260743291 CA376708090 |
1342 | Q>* | No |
ClinGen TOPMed |
|
|
rs773708875 CA5495201 |
1345 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs115633798 CA5495200 |
1347 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376708049 rs1178818645 |
1348 | S>Y | No |
ClinGen gnomAD |
|
|
CA5495199 rs371522486 |
1349 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1349 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1350 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245390494 CA376708043 |
1350 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1352 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376708015 rs1202958491 |
1353 | C>* | No |
ClinGen TOPMed |
|
|
CA376708012 rs1223670390 |
1354 | Q>K | No |
ClinGen gnomAD |
|
|
CA376708009 rs1452760341 |
1354 | Q>R | No |
ClinGen gnomAD |
|
|
rs1300774334 CA376704862 |
1355 | D>A | No |
ClinGen gnomAD |
|
|
VAR_037437 CA5495183 RCV000864612 rs34917815 RCV000251631 |
1355 | D>E | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376704855 rs1300774334 |
1355 | D>V | No |
ClinGen gnomAD |
|
|
rs370285377 CA5495182 |
1356 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5495180 rs776383043 |
1359 | K>* | No |
ClinGen ExAC gnomAD |
|
|
COSM2151469 CA376704791 rs776383043 |
1359 | K>E | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1454834196 CA376704694 |
1363 | K>T | No |
ClinGen gnomAD |
|
|
CA5495176 RCV000888824 rs150277901 |
1365 | N>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5495178 rs746586048 |
1365 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs745758957 CA5495175 RCV000728381 |
1366 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376704597 rs1191937897 |
1367 | P>R | No |
ClinGen gnomAD |
|
|
rs1427754416 CA376704600 |
1367 | P>S | No |
ClinGen gnomAD |
|
|
rs568838614 CA5495174 CA376704567 |
1368 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376704496 rs1590395940 |
1371 | S>C | No |
ClinGen Ensembl |
|
|
rs1482287422 CA376704407 |
1375 | E>G | No |
ClinGen gnomAD |
|
|
CA5495172 rs753553933 |
1376 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255657939 RCV001812318 CA376704394 |
1376 | D>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs781538914 CA5495169 |
1377 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781538914 CA376704362 |
1377 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495168 rs755154783 |
1378 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1317229199 CA376704301 |
1381 | S>P | No |
ClinGen gnomAD |
|
|
VAR_016309 CA5495165 rs4253228 |
1382 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1349422199 CA376704278 |
1382 | G>V | No |
ClinGen TOPMed |
|
|
CA5495164 rs750916757 |
1384 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376704247 rs1407837313 |
1385 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5495162 rs762286899 |
1385 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs369444705 CA5495160 |
1387 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5495159 rs369444705 |
1387 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1391 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775089627 CA5495158 |
1392 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771532766 CA5495156 |
1395 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484399876 CA376704072 |
1396 | R>S | No |
ClinGen gnomAD |
|
|
rs961974385 CA206614627 |
1397 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA376703940 rs1156649878 |
1403 | E>V | No |
ClinGen TOPMed |
|
|
rs778871384 COSM172076 CA5495155 |
1404 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1258665677 CA376703911 |
1405 | L>S | No |
ClinGen gnomAD |
|
|
CA5495152 rs777367194 |
1407 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495151 rs755243867 |
1407 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5495150 rs61760167 |
1408 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5495147 rs4253229 VAR_016310 |
1410 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA376703761 rs1401528384 |
1411 | H>R | No |
ClinGen gnomAD |
|
|
rs1317670734 CA376703751 |
1412 | L>M | No |
ClinGen TOPMed |
|
|
rs754233465 CA5495144 |
1413 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5495143 rs760408945 |
1414 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1446462257 CA376703675 |
1415 | A>T | No |
ClinGen gnomAD |
|
|
CA5495142 rs775164694 |
1416 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs866442998 CA206614584 |
1417 | A>V | No |
ClinGen Ensembl |
|
|
CA376703607 rs1458365578 |
1419 | L>V | No |
ClinGen gnomAD |
|
|
rs771692143 CA5495141 |
1421 | T>A | No |
ClinGen ExAC |
|
|
CA376703563 rs1196481462 |
1422 | T>A | No |
ClinGen TOPMed |
|
|
rs1376795874 CA376703550 |
1422 | T>R | No |
ClinGen gnomAD |
|
|
rs773851299 CA5495139 |
1425 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA206614564 rs762337440 |
1430 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1430 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5495137 rs773083950 |
1431 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495136 rs773083950 |
1431 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376703399 rs1185626658 |
1431 | M>V | No |
ClinGen TOPMed |
|
|
CA5495135 rs769434036 |
1433 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1434 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239047281 CA376703342 |
1435 | I>V | No |
ClinGen gnomAD |
|
|
CA5495133 rs780469192 |
1436 | A>V | No |
ClinGen ExAC |
|
|
CA5495132 RCV000498342 rs758679804 COSM1675219 |
1437 | F>I | prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000895726 CA5495131 rs530673596 |
1439 | A>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5495129 rs757794095 |
1440 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA206614529 rs1034343100 |
1442 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1398881251 CA376703259 |
1442 | D>H | No |
ClinGen TOPMed |
|
|
rs1338290383 CA376703231 |
1444 | Q>* | No |
ClinGen TOPMed |
|
|
CA376703224 rs1440619945 |
1444 | Q>H | No |
ClinGen gnomAD |
|
|
CA376703213 rs1365686365 |
1445 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA206614521 rs1001560000 |
1448 | R>G | No |
ClinGen gnomAD |
|
|
CA376703134 rs1266622641 |
1451 | L>P | No |
ClinGen gnomAD |
|
|
CA376703126 rs756484672 |
1452 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5495126 rs756484672 |
1452 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376703077 rs1490812719 |
1455 | E>D | No |
ClinGen gnomAD |
|
|
CA5495125 rs753046633 |
1460 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1463 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376703016 rs1456486273 |
1464 | C>W | No |
ClinGen TOPMed |
|
|
CA5495121 rs200424879 |
1465 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145554525 CA5495119 |
1467 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407352245 CA376702992 |
1469 | L>I | No |
ClinGen gnomAD |
|
|
rs1430278383 CA376702990 |
1469 | L>P | No |
ClinGen TOPMed |
|
|
RCV000494535 rs1131691890 |
1472 | N>missing | No |
ClinVar dbSNP |
|
|
CA5495118 rs769745354 |
1477 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170994014 CA376702932 |
1478 | R>G | No |
ClinGen gnomAD |
|
|
CA376702924 rs1406391514 |
1479 | T>A | No |
ClinGen TOPMed |
|
|
CA376702908 rs1465700433 |
1481 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs574307052 CA5495116 |
1482 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1446785764 CA376702899 |
1483 | E>G | No |
ClinGen TOPMed |
|
|
CA5495115 rs772426762 |
1485 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1487 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376702861 rs1260858432 |
1488 | L>P | No |
ClinGen gnomAD |
|
|
rs779154837 CA5495113 |
1489 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1198412955 CA376702821 |
1494 | C>Q | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q03468
17 regional properties for Q03468
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 1242 - 1525 | IPR000719 |
| repeat | Leucine-rich repeat | 303 - 324 | IPR001611-1 |
| repeat | Leucine-rich repeat | 381 - 402 | IPR001611-2 |
| repeat | Leucine-rich repeat | 549 - 570 | IPR001611-3 |
| repeat | Ankyrin repeat | 119 - 148 | IPR002110-1 |
| repeat | Ankyrin repeat | 152 - 182 | IPR002110-2 |
| repeat | Ankyrin repeat | 193 - 223 | IPR002110-3 |
| repeat | Leucine-rich repeat, typical subtype | 278 - 300 | IPR003591-1 |
| repeat | Leucine-rich repeat, typical subtype | 301 - 324 | IPR003591-2 |
| repeat | Leucine-rich repeat, typical subtype | 328 - 351 | IPR003591-3 |
| repeat | Leucine-rich repeat, typical subtype | 379 - 401 | IPR003591-4 |
| repeat | Leucine-rich repeat, typical subtype | 403 - 427 | IPR003591-5 |
| repeat | Leucine-rich repeat, typical subtype | 472 - 493 | IPR003591-6 |
| repeat | Leucine-rich repeat, typical subtype | 548 - 569 | IPR003591-7 |
| repeat | Leucine-rich repeat, typical subtype | 570 - 594 | IPR003591-8 |
| domain | Roc domain | 632 - 826 | IPR020859 |
| domain | C-terminal of Roc (COR) domain | 844 - 1036 | IPR032171 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR45629 | SNF2/RAD54 FAMILY MEMBER |
| PANTHER Subfamily | PTHR45629:SF7 | DNA EXCISION REPAIR PROTEIN ERCC-6-RELATED |
| PANTHER Protein Class |
damaged DNA-binding protein
DNA metabolism protein |
|
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| B-WICH complex | A chromatin remodeling complex that positively regulates histone H3 acetylation, in particular H3K9, by recruiting histone acetyltransferases to rDNA gene regions. Located in the nucleolus where it assembles on RNA Polymerase I (Pol I) and possibly on RNA Polymerase III (Pol III) promoter and coding regions during early G1 phase and activates the post-initiation phases of Pol I transcription. May also activate RNA Polymerase II (Pol II) gene transcription. In mammals, B-WICH contains the WICH complex core of BAZ1B and SMARCA5, additional protein subunits and possibly rRNAs. Although it contains several catalytic subunits it is not clear which functions are carried out by the complex itself. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| transcription elongation factor complex | Any protein complex that interacts with RNA polymerase II to increase (positive transcription elongation factor) or reduce (negative transcription elongation factor) the rate of transcription elongation. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| ATP-dependent activity, acting on DNA | Catalytic activity that acts to modify DNA, driven by ATP hydrolysis. |
| ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| helicase activity | Catalysis of the reaction |
| protein tyrosine kinase activator activity | Increases the activity of a protein tyrosine kinase, an enzyme which phosphorylates a tyrosyl phenolic group on a protein. |
| RNA polymerase binding | Binding to an RNA polymerase molecule or complex. |
35 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA protection | Any process in which DNA is protected from damage by, for example, oxidative stress. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| double-strand break repair via classical nonhomologous end joining | An instance of double-strand break repair via nonhomologous end joining that requires a number of factors important for V(D)J recombination, including the KU70/80 heterodimer (KU), XRCC4, ligase IV, and DNA-PKcs in mammals. It does not produce translocations (as opposed to the alternative nonhomologous end joining). |
| intrinsic apoptotic signaling pathway in response to DNA damage | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| negative regulation of double-strand break repair via nonhomologous end joining | Any process that stops, prevents or reduces the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
| neurogenesis | Generation of cells within the nervous system. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| positive regulation of DNA repair | Any process that activates or increases the frequency, rate or extent of DNA repair. |
| positive regulation of DNA-templated transcription, elongation | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase. |
| positive regulation of double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of histone acetylation | Any process that activates or increases the frequency, rate or extent of the addition of an acetyl group to a histone protein. |
| positive regulation of transcription by RNA polymerase I | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription by RNA polymerase III | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase III. |
| positive regulation of transcription initiation by RNA polymerase II | Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter. |
| pyrimidine dimer repair | The repair of UV-induced T-T, C-T and C-C dimers. |
| regulation of DNA-templated transcription elongation | Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase. |
| regulation of transcription elongation by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| response to gamma radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to superoxide | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a superoxide stimulus. Superoxide is the anion, oxygen-, formed by addition of one electron to dioxygen (O2) or any compound containing the superoxide anion. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
| response to UV-B | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 280 to 315 nm. |
| response to X-ray | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
| single strand break repair | The repair of single strand breaks in DNA. Repair of such breaks is mediated by the same enzyme systems as are used in base excision repair. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transcription elongation by RNA polymerase I | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase I specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase I. |
| transcription-coupled nucleotide-excision repair | The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40352 | RAD26 | DNA repair and recombination protein RAD26 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| A3KMX0 | ERCC6L2 | DNA excision repair protein ERCC-6-like 2 | Bos taurus (Bovine) | PR |
| Q2NKX8 | ERCC6L | DNA excision repair protein ERCC-6-like | Homo sapiens (Human) | PR |
| F8VPZ5 | Ercc6 | DNA excision repair protein ERCC-6 | Mus musculus (Mouse) | SS |
| Q9ZV43 | CHR8 | Protein CHROMATIN REMODELING 8 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPNEGIPHSS | QTQEQDCLQS | QPVSNNEEMA | IKQESGGDGE | VEEYLSFRSV | GDGLSTSAVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CASAAPRRGP | ALLHIDRHQI | QAVEPSAQAL | ELQGLGVDVY | DQDVLEQGVL | QQVDNAIHEA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SRASQLVDVE | KEYRSVLDDL | TSCTTSLRQI | NKIIEQLSPQ | AATSRDINRK | LDSVKRQKYN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KEQQLKKITA | KQKHLQAILG | GAEVKIELDH | ASLEEDAEPG | PSSLGSMLMP | VQETAWEELI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RTGQMTPFGT | QIPQKQEKKP | RKIMLNEASG | FEKYLADQAK | LSFERKKQGC | NKRAARKAPA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVTPPAPVQN | KNKPNKKARV | LSKKEERLKK | HIKKLQKRAL | QFQGKVGLPK | ARRPWESDMR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PEAEGDSEGE | ESEYFPTEEE | EEEEDDEVEG | AEADLSGDGT | DYELKPLPKG | GKRQKKVPVQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EIDDDFFPSS | GEEAEAASVG | EGGGGGRKVG | RYRDDGDEDY | YKQRLRRWNK | LRLQDKEKRL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KLEDDSEESD | AEFDEGFKVP | GFLFKKLFKY | QQTGVRWLWE | LHCQQAGGIL | GDEMGLGKTI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QIIAFLAGLS | YSKIRTRGSN | YRFEGLGPTV | IVCPTTVMHQ | WVKEFHTWWP | PFRVAILHET |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GSYTHKKEKL | IRDVAHCHGI | LITSYSYIRL | MQDDISRYDW | HYVILDEGHK | IRNPNAAVTL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ACKQFRTPHR | IILSGSPMQN | NLRELWSLFD | FIFPGKLGTL | PVFMEQFSVP | ITMGGYSNAS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PVQVKTAYKC | ACVLRDTINP | YLLRRMKSDV | KMSLSLPDKN | EQVLFCRLTD | EQHKVYQNFV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DSKEVYRILN | GEMQIFSGLI | ALRKICNHPD | LFSGGPKNLK | GLPDDELEED | QFGYWKRSGK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MIVVESLLKI | WHKQGQRVLL | FSQSRQMLDI | LEVFLRAQKY | TYLKMDGTTT | IASRQPLITR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| YNEDTSIFVF | LLTTRVGGLG | VNLTGANRVV | IYDPDWNPST | DTQARERAWR | IGQKKQVTVY |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RLLTAGTIEE | KIYHRQIFKQ | FLTNRVLKDP | KQRRFFKSND | LYELFTLTSP | DASQSTETSA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| IFAGTGSDVQ | TPKCHLKRRI | QPAFGADHDV | PKRKKFPASN | ISVNDATSSE | EKSEAKGAEV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| NAVTSNRSDP | LKDDPHMSSN | VTSNDRLGEE | TNAVSGPEEL | SVISGNGECS | NSSGTGKTSM |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PSGDESIDEK | LGLSYKRERP | SQAQTEAFWE | NKQMENNFYK | HKSKTKHHSV | AEEETLEKHL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| RPKQKPKNSK | HCRDAKFEGT | RIPHLVKKRR | YQKQDSENKS | EAKEQSNDDY | VLEKLFKKSV |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| GVHSVMKHDA | IMDGASPDYV | LVEAEANRVA | QDALKALRLS | RQRCLGAVSG | VPTWTGHRGI |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| SGAPAGKKSR | FGKKRNSNFS | VQHPSSTSPT | EKCQDGIMKK | EGKDNVPEHF | SGRAEDADSS |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| SGPLASSSLL | AKMRARNHLI | LPERLESESG | HLQEASALLP | TTEHDDLLVE | MRNFIAFQAH |
| 1450 | 1460 | 1470 | 1480 | 1490 | |
| TDGQASTREI | LQEFESKLSA | SQSCVFRELL | RNLCTFHRTS | GGEGIWKLKP | EYC |