Q12840
EV
Gene name |
KIF5A (NKHC1) |
Protein name |
Kinesin heavy chain isoform 5A |
Names |
Kinesin heavy chain neuron-specific 1, Neuronal kinesin heavy chain, NKHC |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3798 |
EC number |
|
Protein Class |
CENTROMERE PROTEIN E (PTHR47968) |
Descriptions
Kinesin heavy chain isoforms (KIF5A, KIF5B, KIF5C) are microtubule-associated force-producing proteins that may play a role in organelle transport. The N-terminal motor domain of kinesin utilizes ATP hydrolysis to produce force along MTs. The motor domain is followed by the coiled-coil stalk domain and a disordered C-terminal tail domain. Regulated kinesin adopts a folded conformation in which it remains very tightly bound to ADP and does not bind strongly to microtubules. In the folded conformation, the interaction between the neck coiled-coil and the tail coiled-coil positions the C-terminal globular tail domain near the enzymatically active heads. Cargo adapters and MAP7 act synergistically to relieve kinesin autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
7-335 (Kinesin motor domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q12840
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4UXT | EM | 740 A | C | 1-340 | PDB |
| 4UXY | EM | 650 A | C | 1-340 | PDB |
| 4UY0 | EM | 770 A | C | 1-340 | PDB |
| AF-Q12840-F1 | Predicted | AlphaFoldDB |
710 variants for Q12840
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001036880 rs1881531764 COSM942105 |
41 | V>I | Variant assessed as Somatic; MODERATE impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001111424 rs149569914 CA6652500 RCV001303301 |
42 | I>M | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001111425 rs773336059 RCV002069798 RCV002298873 RCV003246695 CA6652519 |
51 | R>H | Hereditary spastic paraplegia 10 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385492401 RCV000633016 rs1555177348 |
53 | F>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058741 | 63 | Y>C | SPG10; complicated form [UniProt] | Yes | UniProt |
|
rs1060502525 RCV000460120 CA16613830 |
77 | G>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003227755 RCV000472975 rs1060502524 CA16613834 |
90 | S>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053519 CA385494463 rs777103564 |
109 | I>M | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001855872 RCV000756293 COSM1476784 rs144277716 CA6652565 |
114 | R>Q | Variant assessed as Somatic; MODERATE impact. Spastic paraplegia breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16614054 rs1060502522 RCV000457563 |
145 | D>H | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001268563 CA6652601 RCV001215426 rs748551786 |
162 | R>W | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1159429693 RCV001325879 CA385497600 COSM942108 |
172 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium Spastic paraplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001215694 rs1319232269 CA385497684 |
177 | P>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003151835 RCV001208679 rs1882089233 |
184 | I>T | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337471 RCV000311827 rs140144799 CA6652627 |
189 | S>L | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001391453 rs1488871976 RCV000516106 CA385497941 |
191 | R>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000693925 CA385497982 rs1565697675 RCV000713412 |
196 | T>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058742 | 198 | M>T | SPG10; complicated form [UniProt] | Yes | UniProt |
|
RCV003228881 RCV001316629 rs11172251 |
199 | N>K | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_066616 | 203 | S>C | SPG10 [UniProt] | Yes | UniProt |
|
RCV000030760 rs387907287 RCV002468980 VAR_058743 RCV001196631 RCV000168349 CA130087 RCV001682718 |
204 | R>Q | Myoclonus, intractable, neonatal KIF5A-Related Disorders Hereditary spastic paraplegia 10 Spastic paraplegia SPG10; complicated form [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555177629 RCV002222527 CA385499050 RCV000516107 RCV001391456 RCV000801216 |
204 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000149510 rs690016545 CA174974 |
232 | D>N | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA385499532 rs1594915468 RCV002245689 RCV000817670 |
233 | L>P | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594915468 RCV001250416 |
233 | L>Q | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3463845 CA130089 RCV000030762 rs387907289 |
235 | G>E | Hereditary spastic paraplegia 10 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
CA385499856 RCV000814503 rs1594916621 |
244 | A>P | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000756292 rs387907285 VAR_058744 RCV000030758 RCV000205648 CA130084 |
251 | E>K | Hereditary spastic paraplegia 10 Spastic paraplegia SPG10; complicated form [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_046744 | 253 | K>N | SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover [UniProt] | Yes | UniProt |
|
RCV000705704 rs1565698514 |
256 | N>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA118520 RCV000007208 rs121434441 VAR_032842 |
256 | N>S | Hereditary spastic paraplegia 10 SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_058745 | 256 | N>del | SPG10 [UniProt] | Yes | UniProt |
| VAR_058746 | 257 | K>N | SPG10; complicated form [UniProt] | Yes | UniProt |
|
RCV001337227 rs1882158696 |
258 | S>P | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000495879 CA385500267 rs1131692233 |
267 | S>P | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM282253 CA6652677 rs139015012 RCV001059220 |
268 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine Spastic paraplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1882160307 RCV001113422 |
273 | T>S | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518461 VAR_033108 rs121434443 RCV000534416 RCV000007210 CA118522 |
276 | Y>C | Hereditary spastic paraplegia 10 Spastic paraplegia SPG10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555177824 RCV000516067 CA385500471 RCV001391460 |
278 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1882168147 RCV001262254 |
278 | P>S | Myoclonus, intractable, neonatal [ClinVar] | Yes |
ClinVar dbSNP |
|
CA118521 RCV000993045 RCV000007209 RCV001387529 rs121434442 VAR_032843 RCV001847593 |
280 | R>C | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Variant assessed as Somatic; MODERATE impact. Spastic paraplegia SPG10 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000515919 COSM4043896 RCV001061322 CA130088 rs387907288 RCV001268862 RCV002051649 RCV000030761 RCV000516550 VAR_058747 |
280 | R>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Variant assessed as Somatic; MODERATE impact. Spastic paraplegia SPG10; complicated form [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_058748 | 280 | R>L | SPG10; pure form [UniProt] | Yes | UniProt |
|
rs1224640834 RCV000549214 CA385500572 |
286 | R>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA385500615 RCV000515861 rs1555177831 |
290 | D>H | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001847190 RCV001209948 COSM346362 CA385500637 rs761812789 |
291 | S>F | lung Hereditary spastic paraplegia Spastic paraplegia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM1289813 RCV001856510 RCV001114822 rs1404057685 CA385500717 |
297 | R>Q | Hereditary spastic paraplegia 10 Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue Spastic paraplegia [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1290797018 RCV001206694 |
300 | M>K | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713413 RCV001848809 COSM1363363 RCV000464334 RCV001391463 rs1012819766 CA16613836 |
323 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Variant assessed as Somatic; MODERATE impact. large_intestine Spastic paraplegia [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001197795 rs769712123 |
352 | K>N | Myoclonus, intractable, neonatal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001331326 CA6652740 RCV001871817 rs749301835 RCV001847243 |
355 | A>S | Myoclonus, intractable, neonatal Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000308405 rs886049700 CA10642091 |
360 | I>T | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA118523 COSM4043898 RCV001175553 RCV001066186 VAR_032844 RCV000007211 rs121434444 |
361 | A>V | kidney Hereditary spastic paraplegia 10 Variant assessed as Somatic; MODERATE impact. Spastic paraplegia SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001697585 RCV002516323 RCV001847957 CA6652748 RCV000229098 rs140929639 RCV000362839 |
369 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6652774 COSM5765282 rs755855553 RCV001034512 |
381 | R>H | Variant assessed as Somatic; MODERATE impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001087471 RCV000316036 rs143326964 RCV000725991 CA6652775 RCV002521970 RCV001114823 RCV001848061 |
384 | G>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1882197501 RCV001202554 |
388 | A>D | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341947 CA385504138 rs1313023330 |
405 | I>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_080647 CA385504245 rs1399145820 |
413 | E>G | ALS25; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs1170006745 RCV000815836 CA385504261 |
414 | R>Q | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002546626 RCV001333332 CA6652798 rs758500897 |
414 | R>W | Myoclonus, intractable, neonatal Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001289240 CA6652803 RCV001114824 RCV000458531 rs748402153 |
422 | R>C | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002518468 RCV001854877 CA6652808 RCV000236671 rs370132723 |
428 | L>R | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs962405110 RCV002543055 CA237784934 RCV001297214 |
464 | E>K | Variant assessed as Somatic; MODERATE impact. Spastic paraplegia Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs376249839 RCV001202912 CA6652853 |
469 | E>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA385506261 VAR_080648 rs1373971092 |
474 | Q>H | ALS25; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV001287991 RCV001871704 rs1882274569 |
477 | N>D | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1055742325 RCV002466662 RCV001326525 CA237785245 |
535 | R>W | KIF5A-related intractable neonatal myoclonus Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_080649 | 544 | R>del | ALS25 [UniProt] | Yes | UniProt |
|
RCV001331327 rs1882294516 |
570 | I>M | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754373609 CA6652914 VAR_080650 |
577 | S>G | ALS25; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001325976 rs1555178348 RCV000599044 CA385508959 |
588 | R>* | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6652955 rs772780431 RCV001202271 |
655 | R>Q | Variant assessed as Somatic; MODERATE impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs753975521 RCV000235514 RCV001854876 CA6652964 |
669 | A>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001856206 rs756646293 CA6653010 RCV000785115 |
707 | R>W | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001244777 rs554894381 RCV001391464 CA6653018 |
716 | R>Q | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs377539747 CA6653017 RCV000471143 RCV001843522 |
716 | R>W | Amyotrophic lateral sclerosis Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000236112 CA10584434 rs879254299 RCV001857818 |
721 | I>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM1562512 RCV001295024 CA6653030 rs757751684 RCV003317475 |
728 | I>T | Variant assessed as Somatic; MODERATE impact. large_intestine Spastic paraplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs387907286 CA130085 RCV001852613 RCV000030759 RCV000498777 |
755 | E>K | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001847646 COSM1212482 RCV000522245 RCV000389116 CA6653063 RCV001287992 rs140281678 RCV001084410 |
758 | E>K | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 large_intestine Spastic paraplegia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765493045 CA6653068 RCV001210098 |
767 | T>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000507176 rs1555178616 CA385512464 RCV001062527 |
772 | R>* | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001850633 rs777903778 RCV000401393 CA6653136 |
826 | Q>H | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs193920755 COSM1178590 RCV000149164 CA174489 |
831 | S>F | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001331328 RCV001542685 rs1882578572 RCV002546460 |
864 | R>* | Myoclonus, intractable, neonatal Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819853 rs1594925773 CA385515114 |
870 | E>* | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1017745641 RCV000993044 RCV002550651 CA237790895 |
886 | A>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001113505 RCV000802776 COSM1989412 rs767911747 CA6653171 |
891 | R>H | Hereditary spastic paraplegia 10 pancreas Spastic paraplegia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1192823802 RCV000809354 CA385515277 |
894 | Q>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002745300 CA237790938 rs267603613 |
909 | S>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002292579 RCV000756291 rs201098122 RCV002533785 CA6653186 |
912 | R>W | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001070549 rs1882585121 |
914 | H>R | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6653218 RCV000490061 rs764612223 RCV002526034 |
935 | P>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801570 rs1594926154 |
942 | E>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000625001 rs150672943 CA6653225 RCV001699440 RCV000860656 RCV000595607 RCV001848093 |
947 | T>A | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057519078 RCV000412536 |
952 | Q>missing | Myoclonus, intractable, neonatal [ClinVar] | Yes |
ClinVar dbSNP |
|
rs575223790 RCV001250992 |
957 | L>missing | Hereditary spastic paraplegia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003298372 RCV001201559 rs746095110 CA6653231 RCV000361512 |
961 | A>T | Hereditary spastic paraplegia 10 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000695342 rs1565705251 |
972 | A>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000412656 rs1057517673 |
975 | C>missing | Myoclonus, intractable, neonatal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039954 CA6653255 rs139801016 RCV001848094 RCV000994942 RCV001260220 RCV000391548 |
976 | T>I | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Amyotrophic lateral sclerosis Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759169064 RCV001266188 CA6653257 |
980 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001856513 RCV001114930 RCV002264190 CA6653258 rs371548640 |
985 | G>S | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000713410 CA6653261 RCV001081669 RCV001847959 VAR_080651 RCV000424199 RCV000625002 rs113247976 RCV001260204 |
986 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 10 Amyotrophic lateral sclerosis Spastic paraplegia ALS25; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6653262 RCV000313010 RCV001067408 rs113247976 |
986 | P>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000678471 rs146202502 RCV001539411 CA6653264 RCV002289954 |
997 | N>I | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002555972 rs1882640177 RCV001095391 |
1002 | D>G | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000598752 rs1555179087 RCV003311856 CA385517105 RCV002531121 VAR_080652 |
1007 | R>G | Amyotrophic lateral sclerosis, susceptibility to, 25 Spastic paraplegia ALS25 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000465321 CA16613765 rs1060502523 RCV001570371 |
1007 | R>K | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA385517437 RCV000809975 rs1485170378 |
1017 | E>G | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs756348570 RCV001850634 CA6653311 RCV000263091 |
1023 | F>C | Hereditary spastic paraplegia 10 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1882658654 RCV001218414 |
1028 | E>K | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6652487 rs780433858 |
2 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6652488 rs780433858 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385495583 rs1244142117 |
3 | E>Q | No |
ClinGen TOPMed |
|
|
CA6652489 rs755532095 |
5 | N>D | No |
ClinGen ExAC TOPMed |
|
|
rs1434215781 CA385495647 |
6 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 6 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5478327 | 7 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs940856567 CA237802428 |
8 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385495711 rs1376496207 |
9 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748864821 CA385495757 |
11 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748864821 CA6652491 |
11 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs770302674 COSM942104 CA6652492 |
18 | P>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6652494 rs745558435 |
22 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA385495971 rs1371053668 |
22 | A>T | No |
ClinGen gnomAD |
|
|
rs771847226 CA385496039 |
25 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771847226 CA6652495 |
25 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161092929 CA385496125 |
28 | D>E | No |
ClinGen TOPMed |
|
|
CA6652496 rs573410126 |
30 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6652497 rs199955108 |
31 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA237802458 rs540463538 |
33 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| COSM1363362 | 34 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM431589 | 36 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM282252 | 39 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1565690660 CA385496390 |
40 | V>I | No |
ClinGen Ensembl |
|
|
CA385496419 rs1207026111 |
42 | I>V | No |
ClinGen gnomAD |
|
|
rs769763596 CA6652518 |
51 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs536777412 CA6652520 |
53 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237780348 rs1014548294 |
55 | P>Q | No |
ClinGen TOPMed |
|
|
CA385492445 rs1169287923 |
55 | P>S | No |
ClinGen gnomAD |
|
|
rs1162282839 CA385492467 |
56 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6652522 rs774510700 |
56 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6652523 rs759785671 COSM3700323 |
57 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| COSM1323132 | 58 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385492547 rs1348634786 |
58 | T>S | No |
ClinGen gnomAD |
|
|
RCV001093316 rs1881973323 |
60 | E>Q | No |
ClinVar dbSNP |
|
|
rs975867260 CA237780371 |
64 | H>R | No |
ClinGen TOPMed |
|
|
CA6652526 rs756639633 |
65 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385492848 rs1230201278 |
68 | M>T | No |
ClinGen gnomAD |
|
|
CA385492895 rs1288040135 |
69 | Q>H | No |
ClinGen gnomAD |
|
|
rs1299838179 CA385493278 |
79 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385493426 rs1594912354 |
85 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 93 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385493664 rs1208551351 |
94 | H>R | No |
ClinGen gnomAD |
|
|
rs1485959906 CA385493758 COSM4403532 |
96 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1237275454 CA385493746 |
96 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385493747 rs1237275454 |
96 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1193791841 CA385494216 |
99 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385494230 rs1247952950 |
100 | L>P | No |
ClinGen gnomAD |
|
|
rs1171944114 CA385494259 |
102 | D>N | No |
ClinGen gnomAD |
|
| COSM694955 | 106 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 110 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237780704 rs988759816 |
111 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| COSM694954 | 111 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385494512 rs1161615188 COSM169125 |
111 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs762474618 CA6652564 |
112 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM942106 | 115 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1332933023 CA385494681 |
119 | H>Y | No |
ClinGen gnomAD |
|
|
rs887626771 CA237780716 |
121 | Y>C | No |
ClinGen TOPMed |
|
| COSM3463843 | 123 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3417030 CA385494834 rs1434891074 |
125 | E>D | large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated gnomAD NCI-TCGA Cosmic |
| TCGA novel | 132 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385495157 rs762206757 |
135 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000483882 CA6652585 rs758987045 |
142 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM261673 rs978901860 CA237780830 |
144 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine skin prostate [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA385495613 rs1343723233 |
152 | T>K | No |
ClinGen gnomAD |
|
|
CA385495608 rs1207892747 |
152 | T>S | No |
ClinGen gnomAD |
|
|
rs1273893076 CA385495723 |
156 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385495767 rs1594913208 |
157 | H>Y | No |
ClinGen Ensembl |
|
|
rs1469562271 CA385495808 |
158 | E>K | No |
ClinGen gnomAD |
|
|
rs1191334617 CA385495877 |
159 | D>G | No |
ClinGen gnomAD |
|
|
CA6652602 rs770143931 |
162 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385496177 rs1429751650 |
166 | V>I | No |
ClinGen TOPMed |
|
|
CA385496231 rs1594913246 |
167 | K>Q | No |
ClinGen Ensembl |
|
| COSM6073271 | 168 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs748426915 CA6652619 |
169 | C>F | No |
ClinGen ExAC gnomAD |
|
| COSM942107 | 170 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1565697616 CA385497626 |
174 | V>M | No |
ClinGen Ensembl |
|
|
CA385497657 rs1392363068 |
176 | S>G | No |
ClinGen TOPMed |
|
|
CA6652622 rs749561961 |
176 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299152245 CA385497829 |
185 | D>N | No |
ClinGen gnomAD |
|
|
rs147510678 CA237782076 |
187 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 189 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769315791 CA6652629 COSM192367 |
191 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385497946 rs1193407286 COSM1241355 |
192 | H>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1565697656 COSM3739807 CA385497944 RCV000761835 |
192 | H>Y | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1265956693 CA385497950 |
193 | V>M | No |
ClinGen gnomAD |
|
|
rs773071687 CA6652630 |
194 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6652631 rs762585533 |
195 | V>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000235813 CA10584433 rs879254292 |
200 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16606674 rs1057524193 RCV000436918 |
202 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057519195 RCV000415739 CA16043842 |
202 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385499123 rs1162007628 |
208 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237782265 rs867294594 |
215 | Q>* | No |
ClinGen Ensembl |
|
|
CA6652647 rs769491011 |
218 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1409047729 CA385499321 |
219 | E>A | No |
ClinGen gnomAD |
|
|
CA6652648 rs772697257 |
220 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA237782272 rs911601615 |
225 | S>C | No |
ClinGen Ensembl |
|
|
rs940334329 CA237782274 |
228 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 238 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237783099 rs151129834 |
248 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs375693647 CA385499962 |
250 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385499987 rs1191735053 |
252 | A>T | No |
ClinGen gnomAD |
|
|
rs947028044 CA237783105 |
257 | K>M | No |
ClinGen TOPMed |
|
| COSM942111 | 261 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM71346 | 261 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000994937 rs1594916694 CA385500183 |
262 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385500235 rs1174199852 |
265 | V>A | No |
ClinGen gnomAD |
|
|
rs772172027 CA6652679 |
271 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs373795817 CA237783131 |
273 | T>S | No |
ClinGen ESP |
|
|
CA385500456 rs1291404967 |
277 | V>F | No |
ClinGen gnomAD |
|
| COSM4939529 | 282 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000422449 CA16606592 rs1057523746 |
283 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1224640834 CA385500571 |
286 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761812789 CA6652702 |
291 | S>C | No |
ClinGen ExAC gnomAD |
|
| COSM3792866 | 293 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385500713 rs1416085161 |
297 | R>W | No |
ClinGen gnomAD |
|
|
rs1303126235 CA385500732 |
298 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 300 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290797018 CA385500754 |
300 | M>T | No |
ClinGen TOPMed |
|
|
rs1215911052 CA385500831 |
305 | S>A | No |
ClinGen gnomAD |
|
|
CA385500842 rs1305787310 |
306 | P>A | No |
ClinGen TOPMed gnomAD |
|
| COSM942112 | 307 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1295922331 CA385500866 |
308 | S>G | No |
ClinGen TOPMed |
|
|
rs1381157336 CA385500875 |
308 | S>I | No |
ClinGen TOPMed |
|
|
CA237783315 rs919318252 |
310 | N>S | No |
ClinGen Ensembl |
|
|
rs1048845476 CA237783322 |
311 | D>E | No |
ClinGen Ensembl |
|
|
rs267603608 CA237783320 |
311 | D>N | No |
ClinGen Ensembl |
|
|
CA385500935 rs1285398673 |
312 | A>S | No |
ClinGen gnomAD |
|
|
CA6652711 rs199886915 |
316 | S>T | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 323 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM942113 | 328 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385502251 rs1468981472 |
330 | T>S | No |
ClinGen gnomAD |
|
|
rs1385454359 CA385502287 |
333 | V>I | No |
ClinGen TOPMed |
|
|
rs1187290769 CA385502352 |
335 | L>F | No |
ClinGen gnomAD |
|
|
CA385502373 rs1399092435 |
336 | E>K | No |
ClinGen TOPMed |
|
|
CA385502632 rs1298908633 |
346 | Y>C | No |
ClinGen TOPMed |
|
|
rs748119521 CA6652737 |
347 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385502751 rs1352725704 |
351 | E>K | No |
ClinGen Ensembl |
|
|
rs200763210 CA237783427 |
351 | E>V | No |
ClinGen 1000Genomes |
|
|
CA385502816 rs1465327244 |
353 | T>A | No |
ClinGen TOPMed |
|
|
CA6652739 rs777886455 |
353 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385502820 rs1465327244 |
353 | T>S | No |
ClinGen TOPMed |
|
|
rs1331463458 CA385502856 |
354 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4043897 | 357 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6652741 rs771092084 |
358 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6652742 rs774586838 COSM694951 |
359 | T>M | lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371335708 CA237783469 |
364 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385503093 rs1434261778 |
365 | A>S | No |
ClinGen gnomAD |
|
|
rs1201387610 CA385503112 |
366 | E>K | No |
ClinGen gnomAD |
|
|
rs764640324 CA6652746 |
367 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6652747 rs749955896 |
368 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs140929639 CA237783485 |
369 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390179670 CA385503205 |
369 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385503200 rs1390179670 COSM4043899 |
369 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA385503243 rs1333285940 |
370 | W>C | No |
ClinGen gnomAD |
|
|
CA237783495 rs986406337 |
371 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6652750 rs751273893 |
371 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6652751 rs754551006 |
372 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1367412468 CA385503485 |
374 | E>G | No |
ClinGen TOPMed |
|
|
CA6652772 rs767095969 |
375 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866804200 CA237783692 |
380 | E>D | No |
ClinGen Ensembl |
|
|
CA6652773 rs752522963 |
381 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA385503686 rs1290297748 |
383 | A>V | No |
ClinGen gnomAD |
|
|
CA6652777 rs757142042 |
385 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs753854351 CA6652776 |
385 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1052752751 CA237783734 |
386 | E>Q | No |
ClinGen Ensembl |
|
|
rs1425088200 CA385503772 |
389 | L>V | No |
ClinGen gnomAD |
|
|
rs75907338 CA6652783 |
392 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs541181624 COSM1255866 CA237783752 |
392 | E>K | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs541181624 CA385503819 |
392 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1247656371 CA385503836 |
393 | L>I | No |
ClinGen gnomAD |
|
|
rs776826605 CA6652784 |
395 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3463849 | 395 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1565699328 CA385503923 |
398 | P>S | No |
ClinGen Ensembl |
|
|
CA237783761 rs908820800 |
399 | V>M | No |
ClinGen TOPMed |
|
|
rs1021367307 CA237783762 |
400 | N>S | No |
ClinGen gnomAD |
|
|
rs769968758 CA6652785 |
401 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA385504105 rs1287914572 |
402 | N>T | No |
ClinGen TOPMed |
|
|
rs773924317 CA6652788 COSM942114 |
406 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385504164 rs1216923500 |
407 | V>M | No |
ClinGen TOPMed |
|
|
rs767181570 COSM192370 CA6652790 |
408 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1203347152 CA385504182 |
408 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM942115 CA6652792 rs148888970 |
410 | A>T | Variant assessed as Somatic; MODERATE impact. urinary_tract endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs541896344 CA6652793 |
410 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 413 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755243063 CA6652801 |
419 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385504417 rs1272478065 |
422 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6652804 rs140917012 |
423 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778095192 CA6652805 COSM240413 |
423 | R>H | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749775296 CA6652806 |
424 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565699454 CA385504464 COSM3872176 |
425 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA385504454 rs1192349908 |
425 | Y>N | No |
ClinGen TOPMed |
|
|
rs1565699456 CA385504481 |
426 | K>* | No |
ClinGen Ensembl |
|
|
CA385504526 rs1201421601 |
428 | L>F | No |
ClinGen gnomAD |
|
|
rs1240356713 CA385504569 |
430 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385504553 rs1217850974 |
430 | D>N | No |
ClinGen gnomAD |
|
|
rs1267848296 CA385504825 |
435 | I>M | No |
ClinGen gnomAD |
|
|
CA6652828 rs776102034 |
436 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1469089525 CA385504845 |
437 | Q>R | No |
ClinGen gnomAD |
|
|
CA385504920 rs1379332888 |
442 | I>L | No |
ClinGen TOPMed |
|
|
rs773133711 CA6652831 |
442 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385505895 rs1594919190 |
457 | V>G | No |
ClinGen Ensembl |
|
|
CA10604351 rs886042524 RCV000287601 |
458 | S>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1445439522 CA385505923 |
458 | S>F | No |
ClinGen TOPMed |
|
|
RCV001267900 rs1882272161 COSM6015028 |
460 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar dbSNP |
|
COSM161990 CA6652849 rs573756569 |
460 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 464 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271167685 CA385506100 |
466 | V>F | No |
ClinGen TOPMed |
|
|
rs774379377 CA6652852 |
468 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6652851 COSM1606442 rs771021589 |
468 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 469 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6137703 | 471 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1245070281 CA385506217 |
472 | H>Y | No |
ClinGen gnomAD |
|
|
CA385506233 rs1318552404 |
473 | L>V | No |
ClinGen TOPMed |
|
|
CA385506246 rs1183553852 |
474 | Q>K | No |
ClinGen gnomAD |
|
|
rs1323875105 CA385506350 |
478 | D>N | No |
ClinGen TOPMed |
|
|
COSM5375708 CA237784980 rs867837134 |
479 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA6652858 rs754236824 |
480 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757571901 CA6652859 |
484 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA237785000 rs577815919 |
488 | L>R | No |
ClinGen Ensembl |
|
| COSM942117 | 491 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4043901 | 496 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1467600087 CA385506819 |
499 | D>N | No |
ClinGen TOPMed |
|
|
CA6652862 rs758937106 |
500 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414315845 CA385506932 |
503 | Q>* | No |
ClinGen Ensembl |
|
|
CA385507019 rs1167631801 |
505 | V>G | No |
ClinGen TOPMed |
|
|
rs1002863375 CA237785024 |
509 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385507236 rs1338931080 |
513 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| COSM942118 | 515 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1034361893 CA385507377 |
521 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA237785030 rs1034361893 |
521 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6652864 rs747632443 |
522 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1594919407 CA385507422 |
523 | V>A | No |
ClinGen Ensembl |
|
| COSM694950 | 532 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs755635476 CA6652882 |
534 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6652883 rs777398624 |
535 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6652884 rs753612831 |
537 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1386445853 CA385507691 |
539 | V>A | No |
ClinGen gnomAD |
|
|
CA385507694 rs1386445853 |
539 | V>G | No |
ClinGen gnomAD |
|
|
rs1318854821 CA385507769 |
544 | R>* | No |
ClinGen gnomAD |
|
|
COSM942119 CA6652886 rs778864713 |
544 | R>Q | Variant assessed as Somatic; MODERATE impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6652887 rs185438769 RCV001268732 |
546 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs199608047 CA237785265 COSM942120 |
546 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
rs771938131 CA6652888 |
547 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779997056 CA6652889 |
548 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 549 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1476785 | 550 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 551 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6652891 rs147493358 |
551 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385507978 rs1411015114 |
556 | K>Q | No |
ClinGen gnomAD |
|
|
rs1594919820 CA385508018 |
557 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 557 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 557 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237785310 COSM109024 rs142701108 |
560 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6652894 rs769941982 |
563 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1385718036 CA385508156 |
564 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1161389904 CA385508181 |
565 | V>A | No |
ClinGen gnomAD |
|
|
rs766817381 CA6652897 |
568 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1212483 rs763336788 CA6652896 CA385508235 |
568 | G>R | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA Cosmic NCI-TCGA |
|
CA385508287 rs1299010073 |
571 | K>M | No |
ClinGen gnomAD |
|
|
CA6652911 rs770034039 |
573 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773435627 CA6652912 |
575 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 575 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3417031 | 576 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1249966359 CA385508886 |
577 | S>N | No |
ClinGen TOPMed |
|
|
rs555833807 CA6652915 |
577 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760135493 RCV000592755 CA6652916 |
579 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA385508930 rs1242381298 |
583 | E>D | No |
ClinGen gnomAD |
|
|
CA6652917 rs768069998 |
588 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1417164425 CA385508967 |
589 | L>P | No |
ClinGen gnomAD |
|
|
rs761362390 CA6652919 |
591 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385509029 rs1307954078 |
598 | V>L | No |
ClinGen gnomAD |
|
|
rs1471037370 CA385509038 |
599 | K>R | No |
ClinGen gnomAD |
|
| COSM1363364 | 600 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA237786643 rs931757596 |
604 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385509068 rs1288743658 |
604 | R>W | No |
ClinGen TOPMed |
|
|
rs750134009 CA6652921 |
606 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1348214633 CA385509079 |
606 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA385509108 rs978303061 |
610 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA237786651 rs978303061 |
610 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385509107 rs978303061 |
610 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA237786652 rs987234168 |
613 | V>M | No |
ClinGen gnomAD |
|
|
RCV000489143 CA6652922 rs757985743 |
614 | E>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA385509138 rs1594921908 |
615 | C>G | No |
ClinGen Ensembl |
|
|
CA237786653 rs758289742 |
616 | H>Y | No |
ClinGen Ensembl |
|
|
CA237786656 rs202045039 RCV000521501 |
617 | R>C | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA237786655 rs202045039 |
617 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6652924 rs751295639 |
617 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1217911242 CA385509159 |
618 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385509165 rs1487870979 |
619 | M>L | No |
ClinGen gnomAD |
|
| COSM942121 | 623 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3727194 rs1174310373 CA385509199 |
624 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs748248329 CA6652927 |
624 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM694948 | 625 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM942122 | 628 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 629 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237786687 rs750826157 |
630 | Q>E | No |
ClinGen Ensembl |
|
|
CA385509268 rs1343792922 |
634 | S>T | No |
ClinGen gnomAD |
|
| COSM942123 | 635 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM431590 | 635 | Q>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1485918899 CA385509401 |
636 | H>R | No |
ClinGen gnomAD |
|
|
CA6652942 rs754718000 |
637 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767277745 CA6652943 |
641 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM6137702 | 641 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM177736 CA385509534 rs1422332328 |
642 | S>L | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA6652945 rs200965784 |
644 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6652949 rs779228716 |
647 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA385510441 rs1316855645 |
649 | S>N | No |
ClinGen gnomAD |
|
|
CA385510461 rs374729476 |
650 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374729476 CA237786903 |
650 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775994678 CA6652952 |
651 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1438614778 CA385510512 |
653 | K>R | No |
ClinGen gnomAD |
|
|
rs1236467846 CA385510533 |
654 | K>R | No |
ClinGen gnomAD |
|
|
CA6652954 rs768984357 |
655 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA6652957 rs770636366 |
656 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385510581 rs1427243293 |
658 | E>K | No |
ClinGen gnomAD |
|
|
CA385510630 rs1477671960 |
661 | Y>C | No |
ClinGen TOPMed |
|
|
CA385510657 rs1396694334 |
663 | S>F | No |
ClinGen gnomAD |
|
|
CA385510695 rs368783789 |
665 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385510681 rs1426873247 |
665 | S>R | No |
ClinGen TOPMed |
|
|
rs1398974670 COSM136906 CA385510698 |
666 | D>N | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 667 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6652961 rs752474331 |
668 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6652960 rs767365871 |
668 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6652963 rs142495781 RCV002051715 |
669 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753975521 CA385510741 COSM192375 |
669 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1279648981 CA385510784 COSM174241 |
673 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs751973359 CA6652987 |
675 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA385510923 rs1261934561 |
679 | E>D | No |
ClinGen gnomAD |
|
|
rs1191059574 CA385510912 COSM4533968 |
679 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1212119444 CA385510934 |
681 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 682 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 684 | D>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5900245 | 684 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385510989 rs1177916529 |
685 | K>E | No |
ClinGen gnomAD |
|
|
rs745954376 CA237787167 |
685 | K>R | No |
ClinGen TOPMed |
|
|
CA6652989 rs538986257 |
686 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1322426342 CA385511021 |
687 | P>A | No |
ClinGen TOPMed |
|
|
CA385511030 rs1391420451 |
688 | D>N | No |
ClinGen TOPMed |
|
|
CA385511045 rs1465463508 |
689 | T>A | No |
ClinGen gnomAD |
|
|
CA385511056 rs1235560158 |
690 | Q>E | No |
ClinGen gnomAD |
|
|
rs1159132449 CA385511060 |
690 | Q>R | No |
ClinGen gnomAD |
|
|
rs756599532 CA6652991 |
693 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753047724 CA6653009 |
697 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA237787310 rs971784374 |
698 | A>T | No |
ClinGen gnomAD |
|
|
rs1386216646 CA385511204 |
702 | Q>H | No |
ClinGen gnomAD |
|
|
CA385511250 rs1379699288 |
705 | S>N | No |
ClinGen gnomAD |
|
|
CA385511267 rs1360689553 |
707 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV001093318 rs1224244947 |
708 | E>D | No |
ClinVar dbSNP |
|
|
rs778204772 CA6653011 |
709 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6653012 rs368671947 |
709 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 711 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373969485 CA6653016 |
712 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385511299 rs373969485 |
712 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6653015 rs373969485 |
712 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779614400 CA6653014 |
712 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1437177704 CA385511309 |
714 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1162438120 CA385511331 |
718 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769871370 CA6653019 COSM145556 |
718 | R>W | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6653020 rs773330335 |
719 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594922783 CA385511336 |
719 | D>G | No |
ClinGen Ensembl |
|
|
rs1457616326 CA385511339 |
720 | E>K | No |
ClinGen gnomAD |
|
|
CA385511361 rs759690535 |
723 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1331338616 CA385511363 |
723 | E>G | No |
ClinGen gnomAD |
|
|
CA6653025 rs759690535 |
723 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6653024 rs759690535 |
723 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 724 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 724 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948053969 CA237787414 |
725 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs879254315 CA10584435 RCV000236020 |
725 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753083346 CA6653026 |
726 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6653027 rs756519830 |
727 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6653028 rs756519830 |
727 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | I>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000994939 rs1594922826 CA385511399 |
729 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751019108 CA6653032 |
730 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370904481 CA6653031 |
730 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6653033 rs754614296 |
731 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1243609134 CA385511418 |
732 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 733 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754561927 CA385511446 |
734 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6653054 rs780535025 |
736 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6653055 rs752462267 |
737 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6653056 rs755813386 |
739 | Q>H | No |
ClinGen ExAC gnomAD |
|
| COSM4931174 | 742 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1369177203 CA385511506 |
743 | E>K | No |
ClinGen gnomAD |
|
|
CA237787737 rs754593021 |
744 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6653058 rs749023785 |
747 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385511558 rs1218452123 |
750 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385511573 rs1269224635 |
752 | L>V | No |
ClinGen TOPMed |
|
|
CA6653060 rs778958309 |
753 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 756 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288959239 CA385511609 |
757 | H>Y | No |
ClinGen TOPMed |
|
|
CA385511657 rs1269746317 |
761 | T>P | No |
ClinGen gnomAD |
|
|
CA385511663 rs1271325672 |
761 | T>S | No |
ClinGen TOPMed |
|
|
CA6653064 rs768803434 |
762 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6653066 rs749616160 |
764 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385511703 rs1160784315 |
765 | E>K | No |
ClinGen gnomAD |
|
|
CA385511708 rs1359073475 |
765 | E>V | No |
ClinGen gnomAD |
|
| COSM942124 | 767 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1212481 CA6653067 rs765493045 |
767 | T>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| COSM6137700 | 767 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6653085 rs773433247 |
769 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6653086 rs201321066 |
770 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766924686 CA6653087 |
771 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs537001094 CA237789595 COSM1179117 |
772 | R>Q | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6653089 rs760213269 |
773 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289214173 CA385512516 |
774 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 775 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318769789 CA385512572 |
777 | K>R | No |
ClinGen gnomAD |
|
| COSM942125 | 778 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1461718357 CA385512641 |
781 | K>R | No |
ClinGen TOPMed |
|
|
CA385512652 rs1242302845 |
782 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 783 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236823586 CA385512715 |
786 | T>S | No |
ClinGen gnomAD |
|
|
CA385512728 rs1457728758 |
787 | V>I | No |
ClinGen gnomAD |
|
| COSM1989392 | 788 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA237789672 rs368469872 |
789 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6653099 rs781124099 |
789 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1594923970 CA385512844 |
790 | E>D | No |
ClinGen Ensembl |
|
|
rs1594923977 CA385512860 |
791 | L>P | No |
ClinGen Ensembl |
|
|
rs1594923986 CA385512879 |
793 | T>P | No |
ClinGen Ensembl |
|
| COSM1363367 | 796 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 797 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6653101 COSM942126 rs372633156 |
798 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA237789677 rs940071825 |
798 | R>H | No |
ClinGen TOPMed |
|
| COSM694947 | 799 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs749574366 CA6653103 |
804 | D>N | No |
ClinGen ExAC gnomAD |
|
| COSM6137699 | 806 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6653105 rs775039195 |
806 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385513082 rs1402124748 |
807 | T>I | No |
ClinGen gnomAD |
|
|
CA385513092 rs1276356855 COSM1677123 |
808 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385513137 rs1425429900 |
811 | K>R | No |
ClinGen TOPMed |
|
|
CA6653128 rs772785144 |
812 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs376501264 CA237789790 |
812 | S>T | No |
ClinGen ESP |
|
|
COSM942127 rs766050696 CA6653129 |
818 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6653130 rs766216492 |
820 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6653131 CA385513423 rs751295549 |
821 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3955010 | 821 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 822 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373328181 CA237789824 |
824 | H>Y | No |
ClinGen ESP |
|
|
rs1363391519 CA385513590 |
829 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 832 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754171273 CA6653137 |
832 | F>V | No |
ClinGen ExAC gnomAD |
|
| COSM3463853 | 838 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 839 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237789857 rs919116365 |
842 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 842 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237789861 rs953001626 |
845 | K>T | No |
ClinGen TOPMed |
|
| COSM3463854 | 846 | Q>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs779426030 CA6653139 |
846 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1003993907 CA237790847 |
847 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 847 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594925728 CA385514877 RCV000994941 |
847 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6653158 rs757582532 |
848 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA385514893 rs757582532 |
848 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 849 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765503816 CA6653159 |
849 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 850 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780457980 CA6653162 |
853 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 855 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755458436 CA6653164 |
860 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 863 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM694946 | 864 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs899351451 CA237790878 |
864 | R>Q | No |
ClinGen gnomAD |
|
| COSM6073268 | 866 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385515105 rs1295436882 |
868 | T>M | No |
ClinGen TOPMed |
|
|
RCV001268331 rs1882579168 |
871 | R>missing | No |
ClinVar dbSNP |
|
|
rs748759066 CA385515145 |
874 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs748759066 CA6653166 |
874 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1256355579 CA385515165 |
878 | A>T | No |
ClinGen gnomAD |
|
| COSM6073267 | 882 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1484153242 CA385515201 |
883 | K>R | No |
ClinGen gnomAD |
|
|
rs1017745641 CA237790897 |
886 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774040770 CA6653168 |
887 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385515226 rs1184691547 |
887 | M>L | No |
ClinGen TOPMed |
|
|
rs745502722 CA6653169 |
888 | K>N | No |
ClinGen ExAC gnomAD |
|
| COSM1363368 | 891 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA385515261 COSM5633452 rs1467847947 |
892 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA6653173 rs267603612 |
892 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385515301 rs1594925817 |
897 | V>G | No |
ClinGen Ensembl |
|
|
rs375737596 CA237790915 |
899 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA385515338 rs1198903062 |
903 | A>T | No |
ClinGen TOPMed |
|
|
rs1337848884 CA385515343 |
903 | A>V | No |
ClinGen gnomAD |
|
|
CA6653177 rs141590802 |
904 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758637368 CA6653178 |
905 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6653180 rs766671105 |
905 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs766671105 CA6653179 |
905 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1217692160 CA385515365 |
907 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs748632605 CA6653183 |
908 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA385515383 rs1476843909 |
910 | G>D | No |
ClinGen gnomAD |
|
|
rs1333544617 CA385515380 |
910 | G>S | No |
ClinGen TOPMed |
|
|
rs199953180 CA6653185 |
911 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385515389 rs199953180 |
911 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001200088 rs771687270 CA6653187 |
914 | H>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA385515430 rs1375277418 |
917 | Q>* | No |
ClinGen gnomAD |
|
|
rs1375277418 CA385515426 |
917 | Q>K | No |
ClinGen gnomAD |
|
|
CA385515444 rs1419915559 |
918 | I>V | No |
ClinGen gnomAD |
|
|
CA385515542 rs1594926059 |
920 | K>N | No |
ClinGen Ensembl |
|
|
rs1252859027 CA385515546 |
921 | P>T | No |
ClinGen gnomAD |
|
|
CA6653212 rs763041798 |
922 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6653213 rs770895618 COSM4821131 |
923 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231571339 COSM3987106 CA385515573 |
923 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs752993142 CA6653216 |
928 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385515635 rs1163611256 |
928 | P>S | No |
ClinGen gnomAD |
|
|
CA385515647 rs1420407259 |
929 | A>T | No |
ClinGen gnomAD |
|
|
CA385515656 rs1329021125 |
929 | A>V | No |
ClinGen gnomAD |
|
|
rs999227495 CA237791087 |
931 | S>P | No |
ClinGen Ensembl |
|
|
rs1284934647 CA385515705 |
933 | T>S | No |
ClinGen gnomAD |
|
|
CA385515719 rs1381639610 |
934 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1272664645 CA385515729 |
935 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6653219 rs754276707 |
936 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
RCV001268572 rs1882598771 |
938 | T>missing | No |
ClinVar dbSNP |
|
|
rs779422769 CA237791113 |
939 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA385515774 rs1188692048 |
939 | R>Q | No |
ClinGen gnomAD |
|
|
rs779422769 CA6653221 |
939 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1431696242 CA385515787 |
940 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 942 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866617917 CA237791116 |
943 | C>* | No |
ClinGen Ensembl |
|
|
CA237791118 rs201359295 |
946 | Y>C | No |
ClinGen Ensembl |
|
|
rs1478755471 CA385515890 |
947 | T>I | No |
ClinGen gnomAD |
|
|
rs1478755471 CA385515889 |
947 | T>S | No |
ClinGen gnomAD |
|
|
rs138919700 CA6653227 |
948 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6653226 rs138919700 |
948 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749151018 CA6653228 |
950 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs566471141 CA6653230 |
952 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM1476786 | 957 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1292729014 CA385516049 |
958 | Y>H | No |
ClinGen gnomAD |
|
|
CA385516068 rs1342455145 |
959 | L>Q | No |
ClinGen TOPMed |
|
|
rs1268871610 CA385516117 |
963 | P>H | No |
ClinGen gnomAD |
|
|
rs1220546540 CA385516112 |
963 | P>T | No |
ClinGen gnomAD |
|
|
CA6653232 rs772241902 |
965 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149433823 CA6653234 |
966 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6653233 rs775853828 |
966 | T>P | No |
ClinGen ExAC TOPMed |
|
|
CA385516134 rs775853828 |
966 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1461615572 CA385516145 |
967 | S>L | No |
ClinGen TOPMed |
|
|
CA6653235 rs764332673 |
968 | D>H | No |
ClinGen ExAC gnomAD |
|
| COSM942128 | 968 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777259435 CA6653236 |
969 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA385516193 rs1484472471 |
970 | Y>C | No |
ClinGen gnomAD |
|
|
rs1260487453 CA385516535 |
971 | F>Y | No |
ClinGen gnomAD |
|
|
CA385516545 rs1565705255 |
972 | A>V | No |
ClinGen Ensembl |
|
|
CA6653252 rs769120712 |
973 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs776798327 CA6653253 |
973 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385516548 rs1594926584 |
973 | N>T | No |
ClinGen Ensembl |
|
|
CA385516563 rs1172218291 |
975 | C>Y | No |
ClinGen TOPMed |
|
|
rs146406013 CA6653254 |
976 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385516580 rs1159045681 |
977 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1159045681 CA385516582 |
977 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6653256 rs774024961 |
978 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA237791382 rs200008143 |
978 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM3463855 rs1156869738 CA385516607 |
979 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs759169064 CA385516619 |
980 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA237791389 rs866481110 |
980 | A>P | No |
ClinGen TOPMed |
|
|
CA237791387 rs866481110 |
980 | A>T | No |
ClinGen TOPMed |
|
|
rs1387856537 CA385516627 |
981 | T>K | No |
ClinGen gnomAD |
|
|
rs1211468940 CA385516641 |
982 | S>F | No |
ClinGen TOPMed |
|
|
CA385516654 rs1328438334 |
984 | G>S | No |
ClinGen gnomAD |
|
|
rs371548640 CA6653259 |
985 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM6073265 | 988 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000427589 CA16603313 rs1057520171 |
991 | Q>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA385516744 rs1259619958 |
991 | Q>P | No |
ClinGen gnomAD |
|
|
CA6653263 rs757241534 |
994 | N>H | No |
ClinGen ExAC gnomAD |
|
| COSM3463857 | 998 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1594927252 CA385516943 |
999 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1005 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762906034 CA6653305 |
1007 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA385517290 rs1349876246 |
1009 | D>E | No |
ClinGen gnomAD |
|
|
CA6653307 rs751496558 |
1011 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781330396 CA6653309 |
1013 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs931443243 CA237792068 |
1014 | Y>C | No |
ClinGen Ensembl |
|
|
CA237792074 rs1048929484 |
1016 | A>S | No |
ClinGen Ensembl |
|
| COSM431591 | 1017 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1186511989 CA385517525 |
1021 | K>R | No |
ClinGen gnomAD |
|
|
rs1186511989 CA385517524 |
1021 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1022 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6653310 rs752920933 |
1023 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1172190035 CA385517586 |
1024 | P>H | No |
ClinGen gnomAD |
|
|
rs1441630174 CA385517584 |
1024 | P>S | No |
ClinGen TOPMed |
|
|
CA385517628 rs1594927625 |
1026 | H>Q | No |
ClinGen Ensembl |
|
|
rs778286513 CA6653312 |
1027 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs894996728 CA237792099 |
1028 | E>D | No |
ClinGen Ensembl |
|
|
CA385517680 rs1276293459 |
1029 | T>A | No |
ClinGen TOPMed |
|
|
CA385517706 rs1206507768 |
1030 | A>E | No |
ClinGen TOPMed |
|
|
rs749631031 CA6653313 |
1031 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA385517715 rs749631031 |
1031 | A>T | No |
ClinGen ExAC gnomAD |
|
| COSM1363369 | 1032 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM942130 | 1033 | S>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
3 associated diseases with Q12840
[MIM: 604187]: Spastic paraplegia 10, autosomal dominant (SPG10)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617235]: Myoclonus, intractable, neonatal (NEIMY)
An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617921]: Amyotrophic lateral sclerosis 25 (ALS25)
A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39. .
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39. .
No regional properties for Q12840
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q12840 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47968 | CENTROMERE PROTEIN E |
| PANTHER Subfamily | PTHR47968:SF56 | KINESIN MOTOR DOMAIN-CONTAINING PROTEIN |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| ciliary rootlet | A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
| kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
6 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 |
| cytoskeletal motor activity | Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force). |
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| plus-end-directed microtubule motor activity | A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde axonal protein transport | The directed movement of proteins along microtubules from the cell body toward the cell periphery in nerve cell axons. |
| anterograde dendritic transport of neurotransmitter receptor complex | The directed movement of a neurotransmitter receptor complex along microtubules in nerve cell dendrites towards the postsynapse. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| retrograde neuronal dense core vesicle transport | The directed movement of neuronal dense core vesicles along axonal microtubules towards the cell body. |
| synaptic vesicle transport | The directed movement of synaptic vesicles. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17210 | Khc | Kinesin heavy chain | Drosophila melanogaster (Fruit fly) | EV |
| P33176 | KIF5B | Kinesin-1 heavy chain | Homo sapiens (Human) | EV |
| O43896 | KIF1C | Kinesin-like protein KIF1C | Homo sapiens (Human) | SS |
| Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
| O60282 | KIF5C | Kinesin heavy chain isoform 5C | Homo sapiens (Human) | EV |
| Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
| Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
| O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
| Q9P2E2 | KIF17 | Kinesin-like protein KIF17 | Homo sapiens (Human) | EV |
| O00139 | KIF2A | Kinesin-like protein KIF2A | Homo sapiens (Human) | PR |
| Q9NQT8 | KIF13B | Kinesin-like protein KIF13B | Homo sapiens (Human) | EV |
| Q9H1H9 | KIF13A | Kinesin-like protein KIF13A | Homo sapiens (Human) | SS |
| P28738 | Kif5c | Kinesin heavy chain isoform 5C | Mus musculus (Mouse) | SS |
| P33175 | Kif5a | Kinesin heavy chain isoform 5A | Mus musculus (Mouse) | SS |
| Q61768 | Kif5b | Kinesin-1 heavy chain | Mus musculus (Mouse) | EV |
| Q2PQA9 | Kif5b | Kinesin-1 heavy chain | Rattus norvegicus (Rat) | SS |
| Q6QLM7 | Kif5a | Kinesin heavy chain isoform 5A | Rattus norvegicus (Rat) | SS |
| P34540 | unc-116 | Kinesin heavy chain | Caenorhabditis elegans | SS |
| Q9SV36 | KINUC | Kinesin-like protein KIN-UC | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAETNNECSI | KVLCRFRPLN | QAEILRGDKF | IPIFQGDDSV | VIGGKPYVFD | RVFPPNTTQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QVYHACAMQI | VKDVLAGYNG | TIFAYGQTSS | GKTHTMEGKL | HDPQLMGIIP | RIARDIFNHI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YSMDENLEFH | IKVSYFEIYL | DKIRDLLDVT | KTNLSVHEDK | NRVPFVKGCT | ERFVSSPEEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LDVIDEGKSN | RHVAVTNMNE | HSSRSHSIFL | INIKQENMET | EQKLSGKLYL | VDLAGSEKVS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KTGAEGAVLD | EAKNINKSLS | ALGNVISALA | EGTKSYVPYR | DSKMTRILQD | SLGGNCRTTM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FICCSPSSYN | DAETKSTLMF | GQRAKTIKNT | ASVNLELTAE | QWKKKYEKEK | EKTKAQKETI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AKLEAELSRW | RNGENVPETE | RLAGEEAALG | AELCEETPVN | DNSSIVVRIA | PEERQKYEEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IRRLYKQLDD | KDDEINQQSQ | LIEKLKQQML | DQEELLVSTR | GDNEKVQREL | SHLQSENDAA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KDEVKEVLQA | LEELAVNYDQ | KSQEVEEKSQ | QNQLLVDELS | QKVATMLSLE | SELQRLQEVS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GHQRKRIAEV | LNGLMKDLSE | FSVIVGNGEI | KLPVEISGAI | EEEFTVARLY | ISKIKSEVKS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VVKRCRQLEN | LQVECHRKME | VTGRELSSCQ | LLISQHEAKI | RSLTEYMQSV | ELKKRHLEES |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YDSLSDELAK | LQAQETVHEV | ALKDKEPDTQ | DADEVKKALE | LQMESHREAH | HRQLARLRDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| INEKQKTIDE | LKDLNQKLQL | ELEKLQADYE | KLKSEEHEKS | TKLQELTFLY | ERHEQSKQDL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KGLEETVARE | LQTLHNLRKL | FVQDVTTRVK | KSAEMEPEDS | GGIHSQKQKI | SFLENNLEQL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TKVHKQLVRD | NADLRCELPK | LEKRLRATAE | RVKALEGALK | EAKEGAMKDK | RRYQQEVDRI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KEAVRYKSSG | KRGHSAQIAK | PVRPGHYPAS | SPTNPYGTRS | PECISYTNSL | FQNYQNLYLQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ATPSSTSDMY | FANSCTSSGA | TSSGGPLASY | QKANMDNGNA | TDINDNRSDL | PCGYEAEDQA |
| 1030 | |||||
| KLFPLHQETA | AS |