Q14204
EV
Gene name |
DYNC1H1 (DHC1, DNCH1, DNCL, DNECL, DYHC, KIAA0325) |
Protein name |
Cytoplasmic dynein 1 heavy chain 1 |
Names |
Cytoplasmic dynein heavy chain 1, Dynein heavy chain, cytosolic |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1778 |
EC number |
|
Protein Class |
MALE FERTILITY FACTOR KL5 (PTHR46532) |
Descriptions
Cytoplasmic dynein (dynein hereafter) is an AAA+ motor responsible for nearly all motility and force generation towards the microtubule (MT) minus-end and involved in a wide variety of cellular functions, such as positioning of intracellular organelles, breakdown of the nuclear envelope and assembly of the mitotic spindle. The partial loss of dynein function has been implicated in a range of neurodegenerative and neurodevelopmental conditions, including spinal muscular atrophy, amyotrophic lateral sclerosis, Alzheimer's disease, and schizophrenia.
The core of the dynein complex is a homodimer of two heavy chains, the C-terminal motor domain of which is a catalytic ring of six AAA modules (AAA1-6). Dynein's MT binding domain is separated from the catalytic domain by a coiled-coil stalk. When dynein is not bound to its cargo, it forms two distinct conformations, the phi-particle, and open conformations, both of which move poorly along MTs. Formation of a dynein-dynactin-cargo adaptor complex aligns the dynein motor domains in a parallel conformation and activates processive motility along MTs.
Lissencephaly-1 (Lis-1) promotes the formation of the active complex with dynactin and also favors the recruitment of two dyneins to dynactin, resulting in increased velocity, higher force production and more effective competition against kinesin. Lis-1 binds to release dynein from its autoinhibited state and dissociates form motile complexes, indicating that its primary role is to orchestrate the assembly of the transport machinery.
Autoinhibitory domains (AIDs)
Target domain |
1901-3095 (Motor domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis |
Target domain |
1901-3095 (Motor domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis, Mutagenesis experiment |
Target domain |
1868-4221 (Motor domain in other dynein-1) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis, Mutagenesis experiment, Deletion assay |
Accessory elements
No accessory elements
References
- Reimer JM et al. (2023) "Structures of human dynein in complex with the lissencephaly 1 protein, LIS1", eLife, 12,
- Zhang K et al. (2017) "Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated", Cell, 169, 1303-1314.e18
- Elshenawy MM et al. (2020) "Lis1 activates dynein motility by modulating its pairing with dynactin", Nature cell biology, 22, 570-578
- Karasmanis EP et al. (2023) "Lis1 relieves cytoplasmic dynein-1 autoinhibition by acting as a molecular wedge", Nature structural & molecular biology, 30, 1357-1364
- Torisawa T et al. (2014) "Autoinhibition and cooperative activation mechanisms of cytoplasmic dynein", Nature cell biology, 16, 1118-24
Autoinhibited structure
Activated structure
21 structures for Q14204
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5NUG | EM | 380 A | A/B | 1-4646 | PDB |
| 5OWO | X-ray | 179 A | A/B/C/D | 1-201 | PDB |
| 6F1T | EM | 350 A | e/f/m/n | 1-1053 | PDB |
| 6F1U | EM | 340 A | f/m/n | 1-1186 | PDB |
| 6F1V | EM | 340 A | f/m | 1-1186 | PDB |
| 6F1Y | EM | 340 A | f | 780-927 | PDB |
| 6F38 | EM | 670 A | e/f/m/n | 1-1455 | PDB |
| 6F3A | EM | 820 A | e/f | 1-1455 | PDB |
| 7Z8F | EM | 2000 A | e/f/m/n | 1-4646 | PDB |
| 7Z8G | EM | 352 A | A | 1-4646 | PDB |
| 7Z8H | EM | 341 A | A | 1-4646 | PDB |
| 7Z8I | EM | 330 A | f/m/n | 1-4646 | PDB |
| 7Z8J | EM | 393 A | f/m/n | 1-4646 | PDB |
| 7Z8K | EM | 437 A | e/f | 1-4646 | PDB |
| 7Z8L | EM | 490 A | f | 1-4646 | PDB |
| 8DYU | EM | 400 A | A | 1320-4646 | PDB |
| 8DYV | EM | 397 A | A | 1320-4646 | PDB |
| 8FCY | EM | 340 A | PDB | ||
| 8FD6 | EM | 290 A | PDB | ||
| 8FDT | EM | 320 A | PDB | ||
| 8FDU | EM | 330 A | PDB |
2383 variants for Q14204
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001305561 rs2047642596 |
6 | G>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7351437 rs774412818 RCV001041805 |
8 | G>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001301703 CA7351439 rs772158466 |
13 | S>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391003124 RCV001202335 rs1377924324 |
22 | Q>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA915946451 RCV000824583 rs1595590120 |
25 | A>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001465772 CA7351444 rs765882472 |
28 | S>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1043956265 RCV000705622 CA266961870 RCV001662779 RCV002369961 |
31 | Q>R | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA266961884 rs903873576 RCV000707155 RCV003327453 |
33 | H>Y | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001215497 rs1245576701 CA391003390 |
45 | G>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1566991081 RCV000698186 CA391003408 |
46 | G>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595590195 RCV000856940 |
50 | A>missing | Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391003457 RCV000856941 rs1350501046 |
50 | A>D | Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7351456 RCV002402021 RCV000331295 rs772070566 RCV000540387 |
54 | A>V | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001215119 rs2047646207 |
57 | E>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302922 CA7351463 rs776102549 |
67 | K>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs751092252 CA7351466 RCV001536564 RCV000553521 RCV002315017 |
80 | E>G | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000856942 CA391003875 rs1400787976 |
83 | T>M | Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs749973847 RCV002424904 CA7351489 RCV000811286 |
89 | G>S | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001585899 CA391006221 rs1595595758 RCV000989259 |
99 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351497 rs781336672 RCV002316146 RCV001862021 |
114 | N>S | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000946423 CA266972852 rs953641294 |
119 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000649553 rs749548033 RCV002358867 CA391007351 |
124 | V>M | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555407885 CA391007389 VAR_070580 |
129 | K>I | CDCBM13 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs996476189 RCV001565301 RCV000516391 RCV001857900 CA391007450 COSM697076 |
136 | R>Q | lung Charcot-Marie-Tooth disease axonal type 2O [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001497475 RCV002317778 CA7351524 RCV001174006 rs143421325 RCV000711534 |
137 | V>I | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001551632 CA7351527 RCV000686839 rs776226690 RCV002317914 |
141 | S>N | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7351534 RCV001566306 RCV002341429 rs140905741 RCV000526187 |
153 | I>V | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391007922 rs1321265961 RCV000649559 |
168 | S>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA391008011 RCV000819164 rs1595597551 RCV001270077 |
174 | D>V | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566996419 CA391008193 RCV001281474 RCV002317604 |
190 | E>K | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824829 CA391008269 rs1595597572 |
196 | L>W | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260670 rs2047842129 |
200 | I>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704775 rs1566996430 CA391008311 |
200 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs556010695 RCV002060944 RCV002318131 CA7351557 |
208 | P>L | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000649550 CA658798272 rs1555407906 |
209 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM70552 rs138182529 CA7351559 RCV001372245 RCV001697855 |
212 | M>V | ovary Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1595597624 CA391008498 RCV000793185 |
216 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351561 rs757819428 RCV001051951 RCV002281157 |
223 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs561761105 RCV000867750 CA7351562 RCV002363241 |
223 | R>H | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1232919238 RCV001054053 CA391008674 RCV001759795 |
228 | K>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001045247 CA391008737 rs1301539761 |
232 | F>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001173854 rs769311346 RCV002557494 CA7351564 |
234 | D>E | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064520 rs376456164 CA7351565 RCV000433723 RCV002311482 |
236 | V>I | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2047843892 RCV001350535 |
244 | Q>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000649558 RCV000414974 rs879253979 RCV003325406 RCV001266345 CA16043476 RCV000512659 COSM199815 |
251 | R>C | Charcot-Marie-Tooth disease axonal type 2O large_intestine Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases Myopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs879253979 CA10584453 RCV001705306 RCV000797392 |
251 | R>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA245192 rs794727634 RCV000178163 RCV001836743 RCV000623418 RCV000548783 RCV002247590 |
251 | R>H | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Peripheral neuropathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_073156 CA346108 rs713993043 RCV000149554 |
264 | R>L | Spinal muscular atrophy SMALED1; slight increased BICD2-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs713993043 RCV001302580 RCV000789731 RCV000193618 CA207215 RCV000726892 RCV002273981 |
264 | R>Q | Autosomal dominant distal hereditary motor neuropathy Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210343 rs2047849651 |
266 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623818 CA391009642 rs1555407950 |
272 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266116 rs1057518935 RCV000415281 CA16043477 |
277 | F>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351597 RCV001241657 rs764341361 |
283 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002264988 CA391009876 RCV000816414 rs1595597922 |
283 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351598 RCV000696639 RCV002442476 rs774677904 |
284 | A>V | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2047850664 RCV002372705 RCV001858605 RCV001030994 |
292 | R>W | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291059 rs1566996726 |
305 | K>N | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_066651 RCV000192255 RCV000022929 rs387906738 RCV000055662 CA144804 RCV001091151 |
306 | H>R | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures CMT2O and SMALED1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000191045 RCV000236582 CA204992 rs797045177 RCV002514093 RCV001291169 |
309 | R>H | Lissencephaly Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747831868 RCV000697602 CA7351608 RCV001766510 |
314 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA391010471 RCV000989260 rs1595597963 |
315 | S>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789732 rs1555408131 CA391012401 |
338 | D>N | Autosomal dominant distal hereditary motor neuropathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351635 RCV000821264 rs372041146 |
348 | T>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002497783 rs1818621543 RCV002252336 RCV001230408 |
362 | T>I | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771355909 RCV001091153 RCV000649540 CA7351641 |
374 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391013692 rs1239478672 RCV000649554 |
389 | S>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000995759 rs1595599240 CA391013986 RCV000789733 |
399 | R>G | Autosomal dominant distal hereditary motor neuropathy Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1451197374 CA391014169 RCV000823643 |
403 | H>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16621664 RCV001851287 RCV000487662 rs1034508175 |
438 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA391015206 RCV002318333 rs1566997890 |
440 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777919963 RCV000551359 CA7351676 |
464 | D>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001308517 rs747183743 |
465 | Q>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776102509 CA7351682 RCV000649584 |
481 | V>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770305875 RCV001314787 |
481 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000235650 CA10584456 rs879254275 RCV000649576 |
485 | R>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351709 RCV000527924 rs773725715 RCV002315016 |
489 | T>M | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000649580 RCV002388132 rs1298953581 CA391017814 |
493 | Q>K | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1435555404 RCV001348267 CA391017954 |
502 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060502209 RCV000457373 CA16614082 |
503 | Q>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679967 CA391018265 RCV000995249 rs1566998962 |
515 | A>V | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391018381 rs1595600778 RCV000812812 RCV001759573 |
522 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1302970492 CA391018579 RCV001037460 RCV002264995 |
530 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7351723 RCV000696405 rs780247153 |
543 | T>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1469299067 RCV001340526 CA391018860 |
550 | M>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA266980526 RCV001068730 rs1003040427 |
554 | D>N | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001047378 rs2047931446 |
560 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144880 CA270950 rs587781253 |
567 | R>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs797045178 RCV000191046 RCV001291061 CA204994 |
569 | R>P | Lissencephaly Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM953442 CA279255 RCV000201421 RCV002284371 rs863223361 |
580 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA391019183 RCV000761894 CA391019188 rs1566999047 RCV000789734 |
581 | M>L | Autosomal dominant distal hereditary motor neuropathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266671 rs2047932366 |
583 | R>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022932 rs387906741 VAR_067820 CA128843 RCV000789730 |
584 | I>L | Autosomal dominant distal hereditary motor neuropathy Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures SMALED1; disrupts dynein complex stability and function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1371614408 RCV001051505 RCV001249746 CA391019310 RCV003117727 |
592 | F>L | DYNC1H1-related neurodevelopmental disorders Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001213489 rs2047932647 |
593 | V>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA174988 RCV000755714 RCV000144249 COSM367128 RCV000762919 RCV000624400 RCV000255067 rs587780564 RCV000149555 VAR_073157 |
598 | R>C | lung Hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases CMT2O and SMALED1; slight increased BICD2-binding [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA10584457 RCV000789735 RCV000235287 rs879254085 RCV001854863 |
598 | R>L | Autosomal dominant distal hereditary motor neuropathy Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16043478 RCV000414994 rs1057518776 |
601 | I>N | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391019397 RCV001578270 rs1595600898 RCV000789736 |
603 | E>V | Autosomal dominant distal hereditary motor neuropathy Spinal muscular atrophy with lower extremity predominance [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566999079 CA391019421 RCV000679968 RCV002531408 |
606 | T>I | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351738 RCV000427964 RCV000806150 rs760971556 |
609 | I>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001283724 rs2047933165 |
609 | I>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316633 rs907022997 CA266980641 |
611 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001310722 rs1555408333 CA391019454 RCV000789737 |
612 | V>M | Autosomal dominant distal hereditary motor neuropathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351741 RCV000379272 RCV001354735 RCV000703334 rs755333803 |
621 | D>N | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002063822 CA7351745 rs777262223 RCV000483252 |
629 | Q>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001027464 CA391019870 rs1383117534 RCV000804477 |
638 | V>I | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000649571 CA391019900 RCV001027463 rs1244748017 |
639 | R>H | Charcot-Marie-Tooth disease axonal type 2O Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7351751 RCV003314638 RCV000701434 rs775473086 |
648 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_070581 | 659 | T>del | CDCBM13 [UniProt] | Yes | UniProt |
|
rs2047935205 RCV001291062 |
668 | V>D | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1406149790 RCV001248581 CA391020243 |
668 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA128844 RCV000022933 rs387906742 VAR_067821 |
671 | K>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures SMALED1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA391020309 rs1555408345 RCV000789738 |
673 | W>C | Autosomal dominant distal hereditary motor neuropathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758895614 CA391020349 RCV000696756 |
676 | H>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000649566 RCV001584497 CA7351762 rs563050462 |
677 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA391020468 RCV001347859 rs1462327866 |
684 | Q>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7351766 RCV000378339 rs745510694 RCV000334270 |
691 | M>L | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7351775 RCV000552012 rs759802064 RCV000489195 |
716 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3493849 RCV000813425 CA391021499 rs1595601098 |
728 | R>* | Variant assessed as Somatic; HIGH impact. Charcot-Marie-Tooth disease axonal type 2O [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs2047937610 RCV001249747 |
728 | R>Q | DYNC1H1-related neurodevelopmental disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1002689170 CA266980856 RCV000703636 |
735 | L>P | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7351791 rs781320162 RCV000649541 |
760 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002318237 RCV000810070 RCV001772019 CA391022660 rs1358924141 |
763 | A>V | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002447079 rs1001125376 CA266980902 RCV001211941 |
765 | V>A | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001291063 rs2047938879 |
774 | L>P | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_078241 RCV000809340 CA16042831 RCV000625972 RCV000413532 rs1057518083 |
776 | P>L | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures SMALED1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs766014166 COSM6139940 RCV001326463 |
785 | V>F | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV000459849 rs766014166 CA7351802 |
785 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7351805 rs371431746 RCV000805751 |
790 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002451277 CA7351806 RCV001064236 rs752495590 |
792 | C>G | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000521608 rs768932305 RCV001215209 RCV002456015 CA7351813 |
798 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2047940382 RCV001226582 |
804 | L>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391024206 rs1391196036 RCV001110333 RCV001114354 |
821 | A>V | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001348821 rs1463717963 CA391024666 RCV002548461 |
835 | R>H | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001348822 rs2047950008 |
863 | S>Y | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047950288 RCV001262493 RCV001255359 |
882 | Q>K | Intellectual disability Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774004189 CA7351859 RCV000321103 RCV000529524 |
891 | H>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047951002 RCV001310723 RCV001052601 |
905 | M>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001095780 CA391028185 rs114021657 RCV002555979 |
907 | I>M | Charcot-Marie-Tooth disease axonal type 2O DYNC1H1-related neuronopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000649577 RCV001251969 RCV003278852 RCV000502191 rs372740994 CA7351880 |
913 | V>I | Intellectual disability Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223952 RCV002436871 CA7351882 rs760518511 |
923 | T>M | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595602265 RCV000801157 |
941 | D>missing | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810323 RCV001200092 CA7351911 rs140141126 RCV002440743 |
959 | V>I | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2047998539 RCV001260669 RCV002471064 |
967 | Q>R | Intellectual disability Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906743 VAR_067822 CA128845 RCV000022934 |
970 | Y>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures SMALED1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA266985117 RCV001294385 rs939424759 |
975 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518524 CA16042925 RCV001264648 RCV000413733 RCV001851001 |
991 | M>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1332902634 CA391030640 RCV000697983 |
993 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA391032090 rs1318726169 RCV001253638 RCV002570535 |
1018 | F>S | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001221605 rs2048031484 |
1019 | Y>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7351941 RCV001304180 rs769716075 |
1025 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7351940 RCV000693393 RCV002317358 rs777387819 RCV000768204 RCV000616278 |
1025 | R>W | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2048031667 RCV001061134 |
1026 | M>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3493854 CA16614084 rs1060502206 RCV000456898 |
1027 | P>S | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7351942 RCV000504506 RCV000692246 rs775528195 |
1028 | D>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2048031969 RCV001218108 |
1034 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369033191 RCV001051447 CA266986865 |
1036 | S>L | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
CA391032445 rs867890249 CA391032442 RCV000649547 |
1041 | M>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2048032260 RCV001046196 |
1042 | G>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270820 rs1412540989 CA391032573 RCV001880220 |
1049 | Q>R | DYNC1H1-related neurodevelopmental disorders Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2048038170 RCV001291064 |
1054 | W>S | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001095665 RCV001856290 rs2048038246 RCV001253563 |
1057 | Y>C | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391032812 rs1555408819 RCV000789097 |
1060 | L>S | Hereditary motor neuron disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048038347 RCV001266384 |
1062 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330579 rs2048038458 RCV001091156 |
1063 | M>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693531 CA7351969 rs775900761 |
1073 | G>E | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001041968 rs2048038698 |
1074 | E>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001474975 CA7351971 rs764451677 |
1077 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001824815 RCV000624185 rs1555408829 RCV000523856 CA391033272 |
1093 | F>S | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048039336 RCV001210688 |
1096 | A>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218907 rs2048039792 |
1109 | Y>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322892 rs2048042790 |
1127 | V>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078242 | 1132 | G>E | SMALED1 [UniProt] | Yes | UniProt |
|
CA152638 RCV001210598 RCV000116914 COSM288326 RCV002453428 rs587780331 |
1140 | T>M | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2048043377 RCV001208498 |
1141 | E>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262977 rs2048045967 |
1188 | E>G | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228142 rs774198261 CA7352054 RCV002516315 RCV000236103 COSM953452 |
1191 | R>C | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA391035638 RCV000856943 RCV002536210 rs1265590172 |
1192 | N>H | Charcot-Marie-Tooth disease axonal type 2O Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_072092 CA391035665 rs1555408964 |
1194 | Q>R | CMT2O; impairs function [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA185910 RCV000157064 rs727505393 RCV002254910 |
1201 | R>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2048071678 RCV001871618 RCV001280742 |
1222 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048071941 RCV001253406 RCV002348851 |
1227 | R>Q | Intellectual disability, autosomal dominant 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048071968 RCV001327564 |
1230 | S>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001114449 RCV001113067 rs2048072049 |
1233 | Q>H | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000235664 RCV000543522 CA10584460 rs867503066 RCV002347924 RCV001291705 |
1235 | Q>R | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779578539 RCV001306120 CA7352067 |
1248 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA391036608 RCV001203524 rs1217320477 |
1248 | R>W | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000560472 rs760571415 CA7352074 |
1256 | D>N | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs879253961 RCV001251974 |
1261 | W>G | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315739 RCV000523143 CA391036983 RCV002506274 rs751865408 |
1268 | T>M | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000856944 CA391038216 rs1479995920 |
1282 | I>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA391038212 RCV001059166 rs1479995920 |
1282 | I>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001173855 rs1567005557 CA391038209 |
1282 | I>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7352145 rs763711252 RCV000686953 |
1327 | Q>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000590898 rs1047509819 CA391039352 |
1348 | E>K | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000492926 rs1131691955 RCV000649565 CA391039381 |
1350 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048124807 RCV001779136 RCV001213327 |
1378 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318658 rs1567006190 RCV002222614 CA391039758 |
1380 | Y>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555409283 RCV000557410 CA391039872 |
1391 | K>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391039978 rs1567006255 RCV000700126 |
1398 | M>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001339935 rs2048126271 |
1399 | L>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302842 rs1941718258 |
1409 | K>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002534557 rs1567006266 CA391040156 RCV002313562 |
1411 | R>C | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595609005 CA391040167 RCV001004061 |
1412 | H>Y | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001301271 rs2048126705 |
1419 | R>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002559669 CA7352203 rs760230019 RCV002464403 RCV001173856 |
1422 | V>I | Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001114451 rs2048126886 RCV001114450 |
1427 | S>P | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047133 rs2048126921 |
1428 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1171366952 RCV002327615 CA391040507 RCV001269265 |
1430 | T>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM378197 RCV000297218 CA7352209 RCV000355957 rs141561289 |
1444 | A>V | lung Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000537990 CA7352212 rs367614843 |
1446 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391042058 RCV000767219 rs1567006359 |
1457 | M>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857265 RCV001815340 RCV000506360 rs566164007 CA7352241 |
1495 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000649564 RCV000236258 rs761695197 RCV002338774 CA7352246 RCV002057258 |
1504 | V>I | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004062 rs1327664377 CA391042819 COSM1732729 RCV000549631 |
1511 | P>L | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. pancreas [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
VAR_067823 RCV000022931 CA128842 rs387906740 |
1518 | E>K | Intellectual disability, autosomal dominant 13 CDCBM13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002341715 rs2048144507 RCV001345885 RCV001779156 |
1524 | E>D | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056430 rs1312121057 CA391043152 |
1543 | R>W | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7352275 rs762246186 RCV000461447 |
1551 | F>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000196858 rs797044901 CA210007 |
1567 | R>L | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001852534 RCV000236127 RCV000190726 RCV001261370 rs797044901 CA204734 VAR_070582 |
1567 | R>Q | Intellectual disability Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases CDCBM13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001234095 rs866469461 |
1587 | L>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002554624 RCV001772307 RCV001071334 CA266995847 rs200700087 |
1590 | D>H | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001253029 rs1233593354 |
1594 | I>S | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001542481 RCV000789739 RCV000679969 RCV001291065 rs1555409418 CA391043564 |
1603 | R>T | Autosomal dominant distal hereditary motor neuropathy Charcot-Marie-Tooth disease axonal type 2O Lissencephaly Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000476505 RCV002329050 rs1060502204 CA16614049 |
1617 | E>D | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002525958 CA16619826 RCV000626029 rs1064796765 RCV001291066 RCV000481138 |
1623 | R>Q | Lissencephaly Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048174582 RCV001593215 RCV001047303 |
1630 | Y>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173857 rs773425996 |
1653 | H>Q | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173858 rs2048175428 |
1655 | K>Q | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM4602415 CA266997377 RCV000707595 rs925942859 |
1668 | E>K | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758191823 RCV000810232 CA266997396 |
1670 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001482316 rs775007872 CA7352336 |
1671 | S>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs781664182 CA7352350 RCV000392140 RCV000299104 |
1684 | V>I | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000649551 rs1555409556 CA391045269 |
1685 | M>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775895683 CA7352353 RCV000235668 RCV003114408 |
1692 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003223417 rs2048178354 RCV001566462 |
1705 | V>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391045499 RCV000527100 rs1555409562 |
1719 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540127 RCV002476189 CA391045524 rs1555409563 |
1722 | T>M | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs138287354 RCV000649570 CA7352363 RCV002334186 RCV001251968 RCV001779034 |
1733 | I>V | Intellectual disability Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391045774 RCV000649548 rs1555409568 |
1742 | I>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199740595 CA7352386 RCV000552623 RCV002341430 RCV001568025 |
1750 | V>M | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000808357 rs1441272851 CA391046051 |
1751 | V>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2048181510 RCV001041804 |
1761 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780345145 RCV000649581 RCV001566125 CA7352388 |
1762 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001507855 rs144147463 RCV000533146 CA7352391 |
1765 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150687712 RCV000489468 RCV002350088 CA7352393 RCV001089289 |
1765 | A>V | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000502250 rs139842853 COSM244169 CA7352398 RCV000463416 RCV000414779 RCV001562760 RCV001114542 RCV002521450 |
1771 | G>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O prostate Inborn genetic diseases Myopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391046487 rs1489046941 RCV001212354 |
1773 | G>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000649572 RCV003311869 rs200722698 RCV002343347 COSM199821 CA7352402 |
1776 | A>T | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201902137 CA7352403 RCV001346700 |
1776 | A>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000374503 rs773630385 CA7352405 RCV002518083 RCV002487268 |
1783 | S>G | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1346194464 CA391046945 RCV000799572 |
1802 | P>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000385081 RCV000235536 rs879253937 CA10584464 RCV000322194 |
1808 | L>I | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000649583 rs1555409622 |
1832 | N>missing | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048192344 RCV001251973 |
1836 | F>S | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs577512264 RCV001238679 CA7352443 |
1840 | S>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001091157 rs2048192622 RCV002554826 |
1843 | R>* | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1399321780 RCV001173859 CA391048633 |
1860 | Q>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002350535 CA7352447 rs146678667 RCV001299222 |
1865 | K>R | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs748999002 RCV001239507 RCV001532745 CA7352453 |
1887 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7352454 rs768520247 RCV000699391 |
1887 | R>H | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA391049996 RCV001202195 rs1424457974 |
1934 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs879253881 RCV000236762 RCV001854846 VAR_070583 RCV003223399 RCV001249748 CA10584465 |
1962 | R>C | DYNC1H1-related neurodevelopmental disorders Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures CDCBM13 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001861429 RCV000414412 rs1057518287 RCV001267572 CA16042839 RCV000762920 |
1962 | R>H | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066166 rs1278877639 |
1991 | D>missing | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001579341 RCV000392925 RCV002315697 RCV000230174 CA7352512 rs151001016 |
1991 | D>N | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7352540 RCV001298700 rs752903521 |
1996 | P>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA391052621 rs1595613980 RCV000856945 |
2008 | V>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201856 rs2048239251 |
2010 | P>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041347 rs2048239365 |
2015 | F>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347495 rs2048239679 |
2037 | R>W | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000504317 CA391053203 rs1555409836 |
2041 | M>T | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001262678 CA391053312 RCV003156333 COSM1607334 rs1400178483 |
2046 | R>W | liver Intellectual disability, autosomal dominant 13 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs2048240046 RCV001260673 |
2051 | Q>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000470483 RCV003243138 rs1060502207 CA16614090 COSM1580836 |
2118 | R>Q | Charcot-Marie-Tooth disease axonal type 2O haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA391054809 rs1595614266 RCV000796703 |
2119 | G>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000498549 CA7352626 rs765613848 RCV002365636 COSM953465 RCV000463690 |
2141 | V>I | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001253729 rs2048250430 |
2156 | L>R | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316783 CA391055656 RCV003144578 rs1567010429 |
2168 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002365637 rs1060502208 CA16614091 RCV000472493 |
2171 | H>Y | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069445 CA7352634 rs377618857 |
2180 | E>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001206431 RCV001726450 rs2048263659 |
2235 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391057518 RCV000856948 rs1595615102 |
2243 | R>I | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000481286 RCV001851277 CA16619827 rs1064796963 VAR_069439 |
2247 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs2048263970 RCV001250996 |
2248 | E>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376274132 CA7352674 RCV001700438 RCV000649579 |
2255 | D>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693157 CA391058365 rs1567010983 |
2288 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001113272 rs1422291997 RCV001113273 CA391058494 |
2295 | L>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001113270 RCV001113271 rs1412108587 CA391058492 |
2295 | L>V | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs561339487 CA7352707 RCV001597223 RCV002363212 RCV000862366 |
2302 | V>I | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs142335110 RCV001779033 RCV000649567 COSM3386418 CA267004406 |
2329 | N>S | Charcot-Marie-Tooth disease axonal type 2O pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP dbSNP gnomAD |
|
RCV000623754 CA391059200 rs1555410010 |
2330 | G>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16043479 RCV003223402 RCV000414777 RCV001267559 RCV001198404 rs1057518961 |
2332 | R>C | Global developmental delay Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1236304133 RCV001260667 RCV003317469 CA391059240 |
2332 | R>H | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000493383 rs1131691358 RCV001242733 CA391059263 |
2333 | L>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001298789 rs765427772 |
2349 | K>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003155135 RCV002365226 RCV002519822 CA10584466 rs879254019 RCV000236944 |
2358 | R>C | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211432 rs1473788247 CA391059932 |
2360 | G>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002251513 RCV000693742 rs377242217 RCV002369872 CA7352743 CA267006068 |
2372 | D>E | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs775274723 CA7352744 RCV001114647 RCV000235615 RCV001114646 |
2376 | N>S | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003147429 RCV003147430 RCV000235243 rs550161377 CA7352745 RCV000806855 |
2380 | A>T | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16614345 rs1028991666 RCV002244937 RCV000466907 |
2383 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000501345 CA7352755 RCV001045229 rs751820545 |
2397 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000800906 rs1595616794 CA391060370 COSM953472 |
2397 | R>W | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001114649 COSM953473 CA7352756 rs141525226 RCV000725688 RCV001085654 RCV002374466 RCV000374519 |
2398 | R>C | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000696436 rs912429154 RCV002369895 RCV001585637 CA267006179 RCV001109011 |
2398 | R>H | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000700543 CA391060379 rs912429154 |
2398 | R>P | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000296295 RCV000711540 rs150888094 RCV001087519 RCV001255793 CA207947 COSM697065 RCV000194048 RCV001173173 RCV002317679 |
2401 | K>N | lung Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Intellectual disability, autosomal dominant 13 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2048307376 RCV001349112 |
2403 | D>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391060446 RCV000836639 rs779649338 CA7352759 RCV001858430 |
2404 | E>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs566204008 RCV002372766 RCV001569151 CA7352761 RCV001039887 |
2409 | A>T | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1296667481 RCV001318888 |
2412 | M>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001538867 rs1011204533 RCV001056319 CA266952054 |
2433 | V>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7352797 rs757980661 RCV001222043 |
2440 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000824122 CA391001935 rs1595617173 |
2450 | T>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000649552 RCV003222082 rs1161281176 CA391001978 |
2458 | L>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2048316541 RCV001314377 |
2467 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1441059709 RCV002466564 RCV000689728 COSM4878658 CA391002043 |
2467 | R>H | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
rs797045532 CA206358 RCV002517930 RCV000193099 RCV000658301 |
2468 | N>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001296226 RCV001289419 CA7352805 rs774419538 |
2470 | A>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001085082 CA7352809 RCV001111363 COSM953474 RCV001251972 RCV000236454 rs766837403 |
2474 | A>T | Autosomal dominant cerebellar ataxia Intellectual disability Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs776990880 RCV001249749 CA7352810 |
2474 | A>V | DYNC1H1-related neurodevelopmental disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002227482 CA266952229 rs1018948570 RCV000536290 |
2480 | P>A | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001113374 rs2048317566 RCV001113375 |
2481 | M>T | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763703432 CA7352815 RCV001321584 |
2481 | M>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000811834 CA7352819 rs780160519 |
2488 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002500776 RCV001114750 RCV002392689 COSM1580837 rs149581331 RCV000233429 CA7352820 RCV001682938 |
2488 | R>H | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001335828 rs2048322542 |
2492 | R>* | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391002222 rs1292509595 RCV000804388 |
2492 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001173860 RCV000205590 rs376901405 RCV001657995 CA349726 |
2513 | E>D | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs753894340 RCV001057865 |
2515 | G>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388424 rs1567012503 RCV000793830 CA391002382 |
2517 | Y>H | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs528647293 CA7352839 RCV001360458 RCV000494385 |
2522 | T>M | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs147836678 COSM3733020 RCV000236995 CA7352842 RCV001323088 |
2524 | V>M | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV003144253 rs1057518888 RCV000415121 RCV002521456 CA16043480 |
2547 | P>L | Congenital cerebellar hypoplasia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs368463825 RCV000989262 CA7352877 |
2569 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2048329586 RCV001037776 |
2576 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801606 rs756288729 CA7352881 |
2576 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM3493868 rs749628606 RCV002552457 RCV001036093 CA7352883 |
2578 | E>K | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001330582 rs2048329952 |
2583 | T>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048330336 RCV001330583 |
2593 | L>F | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048330369 RCV001299017 |
2597 | P>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048330550 RCV001291067 |
2605 | L>missing | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391003161 RCV000823572 rs1595617746 RCV003317386 |
2610 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303400 CA391003214 rs1207825074 |
2615 | M>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555410285 RCV002272355 CA391003233 RCV000789740 |
2616 | E>K | Autosomal dominant distal hereditary motor neuropathy Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297536 rs2048332709 |
2635 | F>missing | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048332764 RCV001341895 |
2638 | Y>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660532 rs797045535 RCV002517070 RCV000192412 CA205221 RCV000236144 |
2640 | E>K | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1595617838 RCV003152738 RCV000856949 CA391003665 |
2644 | T>I | Charcot-Marie-Tooth disease, type I Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048333160 RCV001237162 |
2646 | N>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1370530780 RCV001037644 CA391003702 |
2647 | G>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA391003751 RCV001066710 rs1240479409 |
2651 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000856951 RCV000856953 rs201272954 RCV000856954 RCV000856950 CA090980 RCV000989263 RCV000856952 |
2660 | V>G | Autosomal dominant distal hereditary motor neuropathy Charcot-Marie-Tooth disease type 5 Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001302048 rs1308813075 CA391004044 |
2680 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA391004220 RCV000649569 RCV001756086 rs1555410313 |
2690 | G>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1000550855 RCV001851096 RCV000427473 CA16606888 |
2729 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002424511 CA7352972 RCV001091158 RCV000649563 rs376679623 |
2734 | V>M | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs866647743 CA266954854 RCV001262938 |
2739 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7352978 RCV000807072 rs773460120 |
2742 | A>T | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2048350905 RCV001057220 |
2753 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391005587 RCV000493975 rs1131691452 RCV002227479 |
2759 | I>V | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002521483 CA7353018 RCV000415741 rs777184216 |
2806 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001231858 RCV000236229 CA7353022 rs762494017 RCV002444939 |
2814 | E>D | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324217 rs2048366964 RCV002447370 |
2821 | L>V | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048367270 RCV001348104 |
2829 | A>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322282 rs2048367430 |
2836 | R>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1475477801 RCV001061627 CA391007012 |
2840 | D>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001310725 rs150520534 CA7353051 RCV001203853 |
2844 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2048401118 RCV001228699 |
2845 | W>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7353055 RCV000476608 rs780522040 RCV002411470 |
2851 | D>N | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7353057 rs575806819 RCV000556283 |
2852 | T>M | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001297752 rs2048454256 |
2885 | D>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048454562 RCV001260674 |
2895 | A>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391010203 RCV000531569 rs1555410902 |
2958 | V>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192315 rs797045536 RCV002444778 CA205057 RCV001852554 |
2959 | Y>C | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs779621100 RCV001072016 CA7353143 |
2977 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1368314 RCV001253330 rs2048463341 |
2982 | R>H | Variant assessed as Somatic; MODERATE impact. Intellectual disability, autosomal dominant 13 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV000711543 RCV001861964 CA391010736 rs1269870036 |
2985 | C>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000502770 RCV001064644 CA391010795 rs1187943520 |
2993 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000236549 rs879253956 COSM3419634 RCV002057249 CA10584470 |
3031 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine Intellectual disability, autosomal dominant 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA391011110 rs769817685 RCV000690975 |
3037 | A>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000556880 rs1555410940 CA391011188 |
3047 | H>Y | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000594304 CA391011198 COSM4049153 VAR_072093 rs1555410941 RCV002532369 |
3048 | E>K | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. CMT2O; impairs function [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA7353171 RCV001113468 RCV001070027 rs774806132 RCV002374993 |
3052 | K>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000378924 CA7353174 rs773658296 RCV000236551 RCV001057932 |
3060 | R>C | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7353177 rs377668381 RCV000763905 RCV000557813 |
3065 | V>M | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391013599 RCV001253418 rs1595623556 RCV000856955 |
3111 | S>G | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001050281 CA7353209 rs374952401 |
3112 | K>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2048469916 RCV001315709 |
3123 | P>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs905098104 CA266962926 RCV000551560 |
3134 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000504213 RCV002376919 rs1049866462 CA266962940 RCV001857092 |
3135 | Q>K | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001265917 CA391014428 rs1215170600 |
3140 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2048470595 RCV001068424 |
3145 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291696 rs2048470658 |
3146 | S>G | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048470929 RCV001209441 |
3152 | Q>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693403 CA266962982 rs1053560376 |
3152 | Q>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001114866 rs2048487270 RCV001114865 |
3168 | T>M | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000649573 CA391015762 RCV001572193 rs1311056505 |
3185 | N>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756550022 RCV003235346 CA7353248 RCV000686181 |
3189 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391015932 rs1567017804 RCV000703723 |
3193 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000763906 rs1567017825 RCV000685361 RCV001266948 CA391016206 |
3203 | V>M | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001855365 RCV000658100 COSM1204764 CA391016599 rs1555411141 |
3219 | R>C | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567017900 RCV002369817 RCV000685116 CA391016832 |
3231 | V>L | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000856957 rs199966256 RCV000856956 CA7353278 |
3235 | A>P | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_070584 CA391016997 rs1555411145 |
3241 | K>T | CDCBM13 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001857674 RCV000190753 rs797044918 RCV001808529 RCV001091159 |
3254 | K>missing | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391017913 rs1567018077 RCV000693309 |
3262 | E>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391017961 RCV000989264 rs373682811 |
3264 | L>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7353303 rs765825369 RCV001047914 RCV002379531 RCV001585944 |
3266 | K>M | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2048495282 RCV001301766 |
3285 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756906168 CA7353308 RCV000856985 |
3286 | E>D | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2048495474 RCV001347998 |
3292 | A>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048518278 RCV001250995 |
3307 | V>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555411304 RCV000626806 CA391019809 |
3310 | M>I | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067033 rs770981625 CA7353336 |
3315 | A>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2048518511 RCV001291068 |
3318 | K>N | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391020479 RCV000509451 RCV000503154 rs1555411305 |
3320 | A>V | Intellectual disability, autosomal dominant 13 DYNC1H1-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397509410 CA143959 RCV000049270 VAR_070585 |
3336 | K>N | Intellectual disability, autosomal dominant 13 CDCBM13; shows a substantial reduction in the microtubule binding affinity compared to the wild-type control protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000049272 CA143961 VAR_070586 RCV001255327 rs397509412 RCV001291070 RCV001262933 |
3344 | R>Q | Intellectual disability Charcot-Marie-Tooth disease axonal type 2O Lissencephaly Intellectual disability, autosomal dominant 13 CDCBM13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2048519381 RCV001291069 RCV001849500 RCV001664806 |
3344 | R>W | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797044928 RCV000190767 CA204812 |
3345 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567018763 CA391021128 RCV002318188 |
3351 | I>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1458996905 RCV000818426 RCV002290465 CA391021287 RCV000995256 |
3357 | E>G | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA266969128 RCV001853636 rs113879661 RCV000519480 |
3362 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA391021873 rs1356616117 RCV001226205 |
3368 | K>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397509411 RCV000049271 CA143960 VAR_070587 RCV001091160 |
3384 | R>Q | Intellectual disability, autosomal dominant 13 CDCBM13; shows a substantial reduction in the microtubule binding affinity compared to the wild-type control protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA391022455 RCV000693395 rs1567019064 |
3387 | L>P | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555411378 RCV000656085 CA391022550 |
3391 | P>L | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253300 rs2048529643 |
3392 | M>T | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217066 rs2048531389 |
3405 | M>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001868142 CA391023373 rs1555411393 RCV003317300 RCV000622366 |
3414 | N>S | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7353385 RCV001201602 rs569322395 |
3421 | D>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA391023668 RCV000578240 rs1555411394 |
3427 | Q>P | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391023754 rs1315999225 RCV001479075 |
3431 | N>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002314487 RCV002534548 CA7353388 rs764127291 |
3431 | N>S | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA391023959 RCV001291071 rs1375729860 |
3438 | R>Q | Lissencephaly [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003328460 rs766521055 RCV000695194 CA391023993 |
3439 | D>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs755126314 RCV001299635 CA7353393 |
3445 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1407151844 CA391024255 RCV000812585 |
3446 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555411400 CA391024509 RCV000658400 RCV003117461 RCV000763907 |
3452 | A>T | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001366306 COSM1368318 RCV000855520 CA7353397 rs778115137 |
3453 | V>I | Fetal akinesia deformation sequence 1 Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000235908 RCV002051830 CA10584472 rs757725348 RCV001291072 |
3474 | R>W | Lissencephaly Spinal muscular atrophy with lower extremity predominance [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs149496322 RCV000430861 RCV002313049 RCV003224275 RCV001291673 CA7353426 RCV000711517 RCV000461707 |
3508 | L>I | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs869312693 CA353448 RCV000209943 RCV000657853 |
3525 | R>C | Variant assessed as Somatic; MODERATE impact. Intellectual disability, autosomal dominant 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001245685 rs2048543572 |
3538 | Q>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595626695 RCV001173998 RCV002508268 RCV000821159 CA391028049 |
3553 | L>V | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567019533 CA391028067 RCV000705967 |
3554 | S>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796932 RCV000485981 RCV000698259 CA16619828 |
3561 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260672 rs2048546391 |
3562 | W>R | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048546542 RCV001197685 |
3565 | S>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814727 RCV001766709 rs148203153 CA266970409 |
3568 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000552491 RCV002418048 RCV000236114 CA7353465 rs768668529 |
3581 | K>N | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000533596 rs1332342693 COSM3987510 CA391028624 |
3584 | N>D | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002267031 RCV000823197 CA7353466 rs774439464 |
3584 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003148916 RCV001036459 rs2048577600 |
3609 | I>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431457 RCV000503558 RCV001055761 CA7353488 rs760957660 |
3611 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001113557 rs2048578052 RCV001113556 |
3620 | R>G | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141133453 RCV001061066 |
3629 | F>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002541809 rs2048578300 RCV001291073 |
3630 | G>S | Lissencephaly Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002537999 CA7353514 RCV000798585 rs761427653 RCV002225118 |
3657 | G>A | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391031534 RCV001004059 rs1595629181 |
3658 | G>E | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200204286 RCV001060148 CA7353518 |
3663 | T>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200204286 RCV001051162 |
3663 | T>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000290688 RCV000347998 CA10634615 rs886050375 |
3711 | Q>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001291074 CA207318 RCV000193672 rs797045529 |
3728 | R>P | Lissencephaly Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2048608382 RCV001320301 |
3736 | G>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048610848 RCV002542851 RCV001267591 RCV001779147 |
3741 | R>C | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048611326 RCV001196323 |
3755 | E>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel rs2048611654 RCV001260668 |
3770 | L>P | Intellectual disability Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs2048611744 RCV001291075 |
3771 | E>K | Lissencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001109328 RCV001109327 rs775444653 RCV002320366 CA7353576 |
3789 | I>T | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1177877033 CA391033575 RCV001034529 RCV003313171 |
3789 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000856986 CA391033778 rs1595629587 |
3801 | Y>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7353582 rs571126286 RCV001040427 |
3803 | P>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2048613478 RCV001262150 |
3806 | T>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391033865 rs1595629612 RCV000856987 |
3806 | T>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756719644 CA7353589 RCV001351719 |
3819 | K>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs387906739 RCV000022930 VAR_065085 CA128841 |
3822 | H>P | Intellectual disability, autosomal dominant 13 CDCBM13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2048621150 RCV001111653 RCV001112118 |
3870 | R>Q | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745812006 RCV000856988 CA7353681 |
3873 | R>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771563083 CA7353688 RCV001291692 RCV001067018 |
3895 | T>I | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001253328 rs2048630862 |
3901 | Y>C | Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001512542 CA7353714 rs201024297 RCV000615778 |
3917 | S>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs141696238 RCV000420175 CA7353717 RCV000367593 RCV002314052 RCV001173222 RCV003103756 RCV000475565 |
3922 | P>L | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001858607 rs141696238 CA391036660 RCV000984908 |
3922 | P>R | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs760510345 RCV001299224 CA7353718 |
3925 | Q>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000236067 rs879254035 CA10584473 RCV001223502 |
3926 | G>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs867293260 RCV000499950 RCV001057642 CA266977120 |
3929 | V>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001049195 CA7353723 rs751780173 |
3934 | A>V | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001173999 rs770188348 CA7353727 |
3935 | V>M | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001212015 rs780676515 CA266977202 RCV002327490 |
3936 | V>L | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000767952 RCV002332545 RCV002275155 RCV001662807 RCV001855967 CA7353728 rs780676515 |
3936 | V>M | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989265 rs1006593304 CA266977208 |
3942 | P>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000800476 rs1595630600 TCGA novel CA391037098 |
3952 | Q>R | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001043348 rs2048633996 |
3953 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7353742 RCV000235989 rs767837334 RCV001238437 |
3955 | E>K | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2048637475 RCV002537609 RCV001260671 |
3957 | F>S | Intellectual disability Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034513 rs150118849 RCV001112120 RCV003222199 RCV002337080 CA7353766 |
3958 | G>V | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391037300 RCV002315476 rs879254021 |
3966 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000235497 RCV001210703 CA7353771 rs770525695 |
3969 | T>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002314663 RCV001082240 RCV000514576 RCV001173223 RCV002500512 CA203379 rs138428684 RCV001115070 RCV000179651 |
3981 | T>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000624558 rs1399236395 RCV003233765 CA391037682 |
3997 | R>W | Variant assessed as Somatic; MODERATE impact. Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA7353800 rs771049687 RCV001346206 |
4002 | L>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001244174 CA7353806 rs753650013 |
4011 | T>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370026529 CA7353810 RCV000807383 |
4016 | S>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2048651644 RCV001341893 |
4018 | M>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA152628 RCV001173224 RCV002312089 RCV000384271 VAR_020890 RCV000711521 RCV000116908 rs10129889 RCV000327419 |
4029 | H>Q | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7353815 rs748133009 RCV001206678 |
4030 | I>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA915946455 RCV000815179 rs1595631704 |
4037 | P>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003258909 RCV000649560 RCV001731841 CA391038329 rs1271427633 |
4038 | N>H | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7353839 RCV001585748 RCV000813594 rs768853660 |
4038 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2048657881 RCV001228317 |
4049 | Y>F | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750249796 RCV001580122 RCV001198310 COSM199837 CA266978711 |
4064 | T>M | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. large_intestine breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000190650 CA204593 rs797044851 |
4071 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs992393537 CA266978980 RCV001174000 |
4084 | I>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16616925 rs1060499574 RCV000477878 |
4111 | K>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1368324 RCV001196054 rs2048664099 |
4123 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
CA266979453 RCV001203480 rs144282707 |
4138 | L>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001035169 RCV002276592 rs751754403 CA7353930 |
4141 | A>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7353933 rs146075696 RCV001056995 |
4147 | F>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002466504 CA7353937 RCV000465263 rs754437318 |
4162 | S>I | Charcot-Marie-Tooth disease axonal type 2O DYNC1H1-related neuronopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567022806 RCV002289996 RCV002313556 CA391041703 |
4165 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200094 RCV000689884 RCV003243257 rs202107738 CA7353939 |
4166 | V>I | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002422383 CA7353976 rs140013253 RCV000649578 |
4195 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs879254018 RCV000766649 RCV001235804 CA10584477 RCV000236360 |
4197 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2048683611 RCV001318518 RCV001760392 |
4197 | A>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174001 rs2048684224 |
4217 | D>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776972173 CA391042687 RCV000699415 |
4226 | T>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001270152 rs778752793 CA7354024 |
4241 | S>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7354026 rs757275255 RCV001297691 |
4249 | Q>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391043784 rs1595633349 RCV000813033 |
4250 | S>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036143 rs2048688862 |
4252 | Y>* | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856989 CA7354029 rs770105370 |
4255 | R>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000856990 rs1298640455 CA391043862 |
4256 | V>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001347479 CA7354034 rs762441496 RCV002312321 |
4263 | R>H | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs760229878 RCV002377440 RCV001339608 CA7354037 |
4266 | N>S | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000555198 CA391044241 RCV002245008 RCV002384226 rs1555412242 |
4290 | G>E | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7354051 RCV002286826 rs748643448 RCV001226667 COSM320042 |
4290 | G>R | lung Charcot-Marie-Tooth disease axonal type 2O [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886050376 RCV000286503 CA10644938 RCV000341443 |
4296 | M>T | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853635 CA7354081 rs755680664 RCV000523213 |
4302 | R>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7354083 rs774296708 RCV000531242 |
4317 | T>M | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001067658 rs2048693948 |
4334 | T>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000649568 rs747829220 RCV000420808 CA7354132 |
4342 | K>E | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002379054 RCV000235370 rs879254327 CA391045766 CA10584479 |
4348 | M>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000626804 rs1555412533 |
4350 | E>missing | Corpus callosum, agenesis of [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1449580462 CA391045882 RCV002543834 RCV001321932 |
4354 | D>Y | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000649539 RCV002379050 RCV000235855 CA7354139 rs547205132 |
4358 | A>T | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1253900818 RCV001231859 |
4359 | E>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001705255 RCV001112195 RCV000230711 rs141925609 RCV001291385 CA7354141 RCV000856991 |
4363 | K>T | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV002318335 RCV001772020 rs1290022379 CA391046152 |
4369 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002317972 COSM3772877 rs1366928812 CA391046244 |
4373 | R>H | pancreas Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000649585 rs768797999 CA7354155 |
4384 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001115175 RCV001115174 CA7354156 rs201971718 |
4384 | A>V | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001109549 rs201575292 RCV002386099 RCV000649543 CA7354158 |
4386 | N>S | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391046562 RCV002381908 RCV002538888 RCV000856992 rs1206639344 |
4389 | H>R | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567025279 CA391046554 RCV000696064 |
4389 | H>Y | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391046628 RCV003144445 RCV000649545 rs1555412552 |
4394 | T>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM252483 RCV000116910 RCV001109550 rs149300055 RCV002381424 CA152632 RCV001719861 RCV001174052 RCV000233457 |
4394 | T>M | Autosomal dominant cerebellar ataxia ovary Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144570049 RCV002379457 RCV000469325 CA7354164 |
4398 | L>F | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA391046717 COSM953505 RCV001300306 rs1455844874 |
4400 | R>C | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000649546 rs1555412618 CA391047934 |
4419 | M>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376492799 VAR_069442 RCV000766879 CA7354195 RCV000501469 RCV001363378 |
4421 | A>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA391048007 RCV001298750 RCV002380003 rs1463058227 |
4422 | K>T | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000796164 RCV003319423 rs770395590 CA7354198 |
4428 | R>C | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7354201 rs763724110 RCV000559833 RCV000236964 |
4429 | Q>R | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001226244 rs2048759187 |
4432 | A>G | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
CA391048158 rs1567025587 RCV003165950 RCV002318247 |
4432 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000626805 rs1555412625 CA391048187 |
4433 | D>A | Cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002386162 rs749297332 RCV000685547 CA7354202 |
4433 | D>N | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002532830 CA7354204 RCV000622630 rs767195767 |
4435 | V>I | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000235280 CA7354206 rs142883042 RCV001084368 RCV002379043 |
4439 | E>K | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7354210 rs777866900 RCV001207869 |
4449 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000544383 RCV000421113 RCV002379385 CA7354212 rs146087540 RCV001251971 |
4450 | T>M | Intellectual disability Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7354214 RCV000800321 rs140033479 |
4453 | N>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000488347 rs1064797194 RCV001851288 CA16621667 |
4454 | E>K | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs376608392 RCV002379049 RCV000235870 RCV001040227 CA7354236 |
4462 | R>Q | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001854849 CA10584482 RCV000236500 rs879253914 RCV002379041 |
4462 | R>W | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199692678 RCV000763908 RCV000649549 CA266989027 COSM380382 |
4472 | G>S | lung Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA391049304 rs1243385324 RCV003232080 RCV000700095 |
4481 | D>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2048774638 COSM697049 RCV001323543 |
4484 | E>D | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001052608 rs2048775017 |
4492 | I>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346248 rs2048775017 |
4492 | I>V | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002533928 rs1567026040 CA391049502 RCV000767955 |
4495 | A>T | Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA391049645 RCV001855793 RCV000733889 rs1304570979 |
4503 | E>D | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA391050245 rs1595637702 RCV000856993 |
4522 | T>I | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003227003 RCV001873627 rs2048779548 RCV001174002 |
4537 | E>K | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229194 RCV003145433 rs2048780089 |
4547 | T>I | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991930 RCV001255800 CA7354296 rs145366078 RCV000802652 RCV002386432 |
4551 | A>T | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001224809 CA391050717 rs1181756021 RCV002379853 |
4551 | A>V | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002379046 RCV000237029 RCV001854857 rs142519155 CA7354299 |
4556 | C>Y | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000298136 rs761881469 RCV000352987 CA7354301 |
4559 | G>R | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001112298 rs1376784009 RCV002265943 CA391051019 RCV001555141 RCV001112299 RCV002379652 |
4561 | T>M | Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000550414 rs886050377 CA391051506 |
4573 | N>K | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1013209915 RCV002386100 RCV000649562 |
4573 | N>missing | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000194666 CA208982 RCV001226668 rs571005578 |
4573 | N>S | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002379768 CA391051640 rs1567026417 RCV001203482 |
4577 | L>P | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048787027 RCV001212544 |
4581 | I>T | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222150 CA7354348 rs544608488 RCV002383966 RCV000502315 |
4584 | A>T | Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA391051871 rs1273077328 RCV001228189 |
4586 | P>L | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7354353 RCV000704680 RCV003314639 rs765362140 RCV002386268 |
4591 | R>C | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs544530887 RCV001295209 CA266989995 |
4591 | R>H | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001211882 rs2048787955 RCV002562378 |
4595 | Q>R | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048787913 RCV001267249 |
4597 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856994 rs753454594 RCV000814459 CA7354357 |
4599 | E>K | Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502205 RCV000470232 CA16614055 |
4600 | K>Q | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2048788225 RCV001045641 |
4601 | K>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224197 rs2048788302 |
4601 | K>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231116 rs200731839 RCV001697256 RCV002378983 CA7354361 |
4603 | S>I | Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10584483 RCV002274953 RCV000236243 rs879254286 RCV000558294 |
4619 | I>V | Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002260655 CA7354385 rs750353606 RCV000649557 |
4623 | D>N | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3936411 RCV000767957 RCV000649555 rs200149883 CA7354387 |
4625 | E>K | Charcot-Marie-Tooth disease axonal type 2O oesophagus Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001229911 rs2048794686 |
4628 | T>A | Charcot-Marie-Tooth disease axonal type 2O [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM70555 CA7354395 rs200224597 RCV000856995 RCV001048187 |
4638 | R>W | ovary Charcot-Marie-Tooth disease axonal type 2O Variant assessed as Somatic; MODERATE impact. Charcot-Marie-Tooth disease large_intestine [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA391002901 rs867811283 |
5 | G>R | No |
ClinGen gnomAD |
|
|
rs867811283 CA266961783 |
5 | G>W | No |
ClinGen gnomAD |
|
|
CA391002927 rs769682126 |
7 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA7351436 rs769682126 |
7 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs769682126 CA391002924 |
7 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391002974 rs1304308327 |
11 | D>N | No |
ClinGen gnomAD |
|
|
CA391002995 rs1371114431 |
12 | G>V | No |
ClinGen gnomAD |
|
|
rs1232427645 CA391003012 |
14 | A>T | No |
ClinGen gnomAD |
|
|
CA391003056 rs1313218511 |
17 | E>G | No |
ClinGen gnomAD |
|
|
CA391003073 rs1566991030 |
18 | V>A | No |
ClinGen Ensembl |
|
|
rs1179768638 CA391003098 |
20 | A>V | No |
ClinGen gnomAD |
|
|
CA391003100 rs1238309918 |
21 | V>M | No |
ClinGen gnomAD |
|
|
rs776917333 CA7351442 |
24 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1424037930 CA391003167 |
26 | D>H | No |
ClinGen gnomAD |
|
|
rs765882472 CA266961843 |
28 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352508759 CA391003206 |
29 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 31 | Q>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347832786 CA391003263 |
33 | H>Q | No |
ClinGen TOPMed |
|
|
CA391003277 rs1368588440 |
35 | R>H | No |
ClinGen gnomAD |
|
|
rs369058949 CA266961888 |
36 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs756874444 CA266961920 |
42 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7351451 rs745720896 |
45 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1417184494 CA391003424 |
47 | E>D | No |
ClinGen gnomAD |
|
|
rs780018678 CA391003434 |
48 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7351452 rs756016984 |
48 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780018678 CA7351453 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391003437 rs1402375700 |
49 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391003445 rs1459755913 |
49 | P>L | No |
ClinGen gnomAD |
|
|
CA391003443 rs1459755913 |
49 | P>R | No |
ClinGen gnomAD |
|
|
rs1402375700 CA391003439 |
49 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391003453 rs1350501046 |
50 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1384805769 CA391003487 |
53 | E>A | No |
ClinGen gnomAD |
|
|
rs749252604 CA391003494 |
53 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7351457 rs772070566 |
54 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280428111 CA391003515 |
55 | A>V | No |
ClinGen gnomAD |
|
|
CA391003587 rs1333366955 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA391003600 rs777022618 |
62 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1595590229 CA391003638 |
64 | Q>H | No |
ClinGen Ensembl |
|
|
CA7351461 CA391003652 rs577413889 |
65 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770303875 CA7351462 |
66 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs763561186 CA391003731 |
71 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1194129893 CA391003734 |
72 | P>S | No |
ClinGen gnomAD |
|
|
CA391003768 rs1471786642 |
74 | V>A | No |
ClinGen gnomAD |
|
|
rs1162552295 CA391003776 |
75 | H>Y | No |
ClinGen gnomAD |
|
|
CA391003799 rs1307406561 |
77 | V>M | No |
ClinGen gnomAD |
|
|
rs1274079049 CA391003886 |
84 | L>P | No |
ClinGen TOPMed |
|
|
CA266970256 rs75113705 |
87 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1199675729 CA391006099 |
88 | V>A | No |
ClinGen gnomAD |
|
|
CA266970258 rs988847052 COSM4049126 |
88 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
| VAR_073155 | 94 | E>K | found in a patient with spinal muscular atrophy; unknown pathological significance [UniProt] | No | UniProt |
| COSM4049127 | 95 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM949377 | 97 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM949378 | 97 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 97 | E>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 98 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000487412 rs1064795200 CA16619822 |
98 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA266970302 rs1002004066 |
102 | N>T | No |
ClinGen Ensembl |
|
|
rs778763364 CA7351494 |
105 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358971449 CA391006354 |
107 | I>V | No |
ClinGen TOPMed |
|
| COSM953436 | 108 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM697077 | 108 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7351496 rs757242487 |
112 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1368299 rs201746558 CA266972862 |
121 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA |
|
CA7351516 rs750599686 |
122 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001171685 CA7351519 rs749548033 |
124 | V>L | No |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
|
rs964625013 CA266972926 |
125 | I>F | No |
ClinGen TOPMed |
|
|
rs1595597352 CA391007390 |
129 | K>N | No |
ClinGen Ensembl |
|
|
rs1488184652 CA391007400 |
131 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs996476189 CA266972984 |
136 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7351523 rs772700375 |
136 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_069437 | 142 | E>A | No | UniProt | |
|
rs1318022002 CA391007540 |
144 | S>L | No |
ClinGen TOPMed |
|
|
rs1366267511 CA391007557 |
146 | Y>C | No |
ClinGen gnomAD |
|
|
rs1255698645 CA391007584 |
148 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7351532 rs549896767 |
152 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140905741 CA7351535 |
153 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340861264 CA391007664 |
155 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | F>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566996283 COSM1368300 |
161 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| TCGA novel | 162 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7351536 rs766600844 |
165 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391007906 rs1310470123 |
167 | E>G | No |
ClinGen gnomAD |
|
|
CA266973057 rs1057031512 |
167 | E>K | No |
ClinGen TOPMed |
|
|
rs1465527547 CA391007966 |
173 | R>G | No |
ClinGen TOPMed |
|
|
CA391008005 rs1458935416 |
174 | D>N | No |
ClinGen TOPMed |
|
|
CA391008041 rs1352761127 |
177 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 185 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7351553 rs761850867 |
188 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA391008292 rs1437264415 |
198 | Q>R | No |
ClinGen gnomAD |
|
|
CA266973245 rs77216005 |
199 | N>S | No |
ClinGen Ensembl |
|
|
rs1177698609 CA391008351 |
203 | P>L | No |
ClinGen gnomAD |
|
|
rs992852984 CA266973246 |
203 | P>S | No |
ClinGen Ensembl |
|
|
rs758747746 CA7351558 COSM1607332 |
209 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1555407907 RCV000502551 CA391008440 |
211 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM1368302 | 215 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1357929889 CA391008573 |
222 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745425454 CA7351563 |
227 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA266973331 rs941435600 |
231 | D>E | No |
ClinGen TOPMed |
|
|
CA391008712 rs1217652731 |
231 | D>N | No |
ClinGen gnomAD |
|
|
CA391008750 rs1566996459 |
233 | G>R | No |
ClinGen Ensembl |
|
|
CA266973372 rs995994279 COSM1707892 |
236 | V>A | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7351567 rs768502998 |
240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs371221480 CA7351568 |
240 | T>I | No |
ClinGen ESP ExAC |
|
| COSM4400653 | 244 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7351589 rs778815661 |
267 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs748001948 CA7351590 |
271 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763157981 CA7351596 |
281 | L>V | No |
ClinGen ExAC |
|
|
CA391009922 rs1341308384 |
285 | L>S | No |
ClinGen TOPMed |
|
|
CA7351601 rs368436945 |
287 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA266973947 rs866384751 |
287 | R>H | No |
ClinGen Ensembl |
|
|
CA266973948 rs1026514943 RCV001091150 |
291 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1354776283 CA391010110 |
295 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753435051 CA7351604 |
297 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM953437 | 301 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1193898454 CA391010234 |
302 | D>G | No |
ClinGen gnomAD |
|
|
CA391010222 rs1487834019 |
302 | D>N | No |
ClinGen gnomAD |
|
| COSM469667 | 303 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs112558840 CA266973972 |
305 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA391010301 rs1243783430 |
306 | H>N | No |
ClinGen gnomAD |
|
|
RCV000500111 rs1555407963 |
316 | F>* | No |
ClinVar dbSNP |
|
| TCGA novel | 318 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391012012 rs1221615651 |
321 | G>D | No |
ClinGen TOPMed |
|
|
rs759075006 CA7351626 |
325 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1335439055 COSM4613358 |
329 | V>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA391012247 rs1388289029 |
332 | Y>C | No |
ClinGen TOPMed |
|
|
CA7351627 rs764842673 |
332 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000519746 rs879254267 CA391012425 |
338 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001091152 rs1555408131 |
338 | D>H | No |
ClinVar dbSNP |
|
|
RCV000236737 CA10584454 rs879254267 |
338 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7351628 rs752337814 |
340 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777620211 CA7351630 |
341 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757196911 CA7351632 |
343 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs7157623 CA266978413 |
349 | E>* | No |
ClinGen Ensembl |
|
|
rs1196852395 CA391012709 |
349 | E>D | No |
ClinGen gnomAD |
|
|
CA391012771 rs1237597409 |
352 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA266978421 rs1020301877 |
354 | R>K | No |
ClinGen Ensembl |
|
| COSM4403855 | 361 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 366 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177522973 CA391013156 |
368 | R>* | No |
ClinGen gnomAD |
|
|
CA391013213 rs1408962219 |
369 | N>S | No |
ClinGen gnomAD |
|
|
rs997487088 CA266978447 |
370 | T>I | No |
ClinGen Ensembl |
|
| COSM274907 | 371 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1328724513 CA391013277 |
372 | Y>* | No |
ClinGen gnomAD |
|
|
rs760131654 CA7351643 |
379 | R>C | No |
ClinGen ExAC gnomAD |
|
| COSM552229 | 379 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7351644 rs764826411 |
379 | R>L | No |
ClinGen ExAC gnomAD |
|
| COSM3814255 | 381 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7351646 rs762636220 |
384 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 389 | S>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480994953 CA391013837 |
393 | L>F | No |
ClinGen gnomAD |
|
|
rs1566997749 CA391013955 |
397 | G>D | No |
ClinGen Ensembl |
|
|
CA266978515 rs866272638 |
397 | G>S | No |
ClinGen Ensembl |
|
|
rs1314946037 CA391013968 |
398 | T>P | No |
ClinGen TOPMed |
|
|
CA391014152 rs1305947826 |
402 | M>I | No |
ClinGen TOPMed |
|
|
CA391014197 rs1566997761 |
404 | V>F | No |
ClinGen Ensembl |
|
|
rs1241172841 CA391014228 |
405 | A>T | No |
ClinGen TOPMed |
|
|
CA7351653 rs778963440 |
406 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391014273 rs778963440 |
406 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs201446486 CA7351652 |
406 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170566501 CA391014337 |
408 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | M>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367292809 CA391014797 |
420 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs544603368 CA7351673 |
422 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 423 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000236209 CA10584455 rs879254303 |
426 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA266978648 rs989797438 |
427 | Y>H | No |
ClinGen Ensembl |
|
|
rs1555408161 RCV000585187 |
430 | L>missing | No |
ClinVar dbSNP |
|
| COSM1322787 | 430 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953440 | 449 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953439 | 449 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel RCV001171594 rs2047891781 |
451 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
CA391015521 rs1421871108 |
453 | N>S | No |
ClinGen TOPMed |
|
|
rs1421871108 CA391015518 |
453 | N>T | No |
ClinGen TOPMed |
|
|
rs1362114769 CA391015537 |
454 | P>S | No |
ClinGen TOPMed |
|
|
CA391015552 rs1247065537 |
455 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391015766 rs1174557723 |
461 | A>V | No |
ClinGen gnomAD |
|
|
rs202204063 CA266978649 |
462 | R>H | No |
ClinGen Ensembl |
|
|
CA391015800 rs1595599366 |
463 | L>F | No |
ClinGen Ensembl |
|
|
rs1351708144 CA391015851 |
465 | Q>R | No |
ClinGen gnomAD |
|
|
rs757619280 CA7351678 |
471 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770305875 CA7351681 |
481 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs75648834 CA266980433 |
492 | A>S | No |
ClinGen Ensembl |
|
|
rs75648834 CA391017799 |
492 | A>T | No |
ClinGen Ensembl |
|
|
rs1217850239 CA391017882 |
497 | G>R | No |
ClinGen gnomAD |
|
|
CA7351712 rs140744226 |
498 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7351713 rs760345114 |
499 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1324284280 CA391017937 |
501 | E>D | No |
ClinGen TOPMed |
|
|
rs776531061 CA266980446 |
502 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776531061 CA7351715 |
502 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057522046 CA391017971 |
503 | Q>H | No |
ClinGen gnomAD |
|
|
CA391018002 rs1233112601 |
505 | M>T | No |
ClinGen gnomAD |
|
|
CA391018120 rs1595600751 |
510 | V>G | No |
ClinGen Ensembl |
|
|
CA7351717 rs765277712 |
512 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 516 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764885198 CA266980468 |
523 | V>I | No |
ClinGen Ensembl |
|
|
rs1171160071 CA391018446 |
524 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767736004 CA7351720 |
525 | L>I | No |
ClinGen ExAC gnomAD |
|
| COSM432678 | 529 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2047930757 RCV001280753 |
540 | K>E | No |
ClinVar dbSNP |
|
|
rs780247153 CA391018783 |
543 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897652590 CA391018893 |
553 | Y>D | No |
ClinGen Ensembl |
|
|
CA266980519 rs897652590 |
553 | Y>H | No |
ClinGen Ensembl |
|
|
CA391018928 rs1490450015 |
556 | R>K | No |
ClinGen gnomAD |
|
|
rs1035408536 RCV001310721 |
563 | R>P | No |
ClinVar dbSNP |
|
|
rs1035408536 CA266980535 |
563 | R>Q | No |
ClinGen TOPMed |
|
|
RCV000435368 CA16606480 rs1057523839 |
568 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs797045178 CA391019063 COSM4049128 |
569 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1421708361 CA391019062 |
569 | R>W | No |
ClinGen gnomAD |
|
|
rs746635345 CA7351729 |
571 | Q>H | No |
ClinGen ExAC |
|
| TCGA novel | 573 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163161759 CA391019101 |
573 | G>D | No |
ClinGen gnomAD |
|
|
CA7351730 rs770685485 |
574 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391019144 rs1426952744 |
577 | N>I | No |
ClinGen gnomAD |
|
|
CA391019164 rs1296676411 |
579 | N>S | No |
ClinGen gnomAD |
|
|
CA7351732 rs759317878 |
587 | R>K | No |
ClinGen ExAC gnomAD |
|
| COSM953443 | 592 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs879254085 RCV000493258 CA391019368 |
598 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2047932815 RCV001091154 |
599 | G>E | No |
ClinVar dbSNP |
|
|
rs2047932793 RCV001171559 |
599 | G>R | No |
ClinVar dbSNP |
|
|
COSM5929524 CA7351735 rs763005275 |
602 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA7351736 rs767680991 |
602 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| COSM6075314 | 610 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 611 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 611 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA266980644 rs1002760127 |
616 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 622 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000413767 rs1057518250 CA16042868 |
623 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1455120229 CA391019639 |
625 | V>F | No |
ClinGen TOPMed |
|
|
rs868245688 CA266980677 |
626 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 632 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 639 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391019964 rs557248415 |
643 | P>A | No |
ClinGen gnomAD |
|
|
CA266980721 rs557248415 |
643 | P>S | No |
ClinGen gnomAD |
|
| COSM5228282 | 644 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs745536861 CA7351749 |
645 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA391020000 rs1224336906 |
647 | S>A | No |
ClinGen gnomAD |
|
|
rs1203140150 CA391020030 |
649 | I>M | No |
ClinGen gnomAD |
|
|
CA391020059 rs1462861994 |
652 | K>E | No |
ClinGen gnomAD |
|
|
COSM1188904 CA7351754 rs773408379 |
655 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7351756 rs369703045 |
659 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595600987 CA391020216 |
665 | V>G | No |
ClinGen Ensembl |
|
|
RCV000995250 CA391020227 rs1595600991 |
666 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA391020229 rs1408892605 |
667 | D>N | No |
ClinGen gnomAD |
|
|
CA266980762 rs866502233 |
669 | L>I | No |
ClinGen Ensembl |
|
|
CA391020356 rs563050462 |
677 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391020422 rs1321373475 |
681 | K>M | No |
ClinGen gnomAD |
|
|
rs374954887 CA391020475 |
685 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7351763 rs374954887 |
685 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs909212560 CA266980783 |
687 | D>N | No |
ClinGen Ensembl |
|
|
CA7351765 rs780588491 |
690 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA391020617 rs1411940199 |
690 | R>H | No |
ClinGen TOPMed |
|
|
CA391020647 rs1595601032 |
691 | M>I | No |
ClinGen Ensembl |
|
|
CA391020707 rs1595601037 |
694 | N>S | No |
ClinGen Ensembl |
|
|
CA391020731 rs1312447748 |
695 | T>M | No |
ClinGen TOPMed |
|
|
CA7351769 rs749149789 |
697 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA391021006 rs1595601050 |
706 | V>G | No |
ClinGen Ensembl |
|
|
CA391021047 rs1404360541 |
707 | Q>H | No |
ClinGen TOPMed |
|
| COSM953446 | 708 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4049129 | 709 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 709 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368826425 CA266980803 |
709 | R>L | No |
ClinGen ESP |
|
|
rs1177774954 CA391021150 |
712 | G>A | No |
ClinGen gnomAD |
|
|
CA391021140 rs748062639 |
712 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM469668 rs748062639 CA7351772 |
712 | G>S | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3493848 CA391021190 rs1429466018 |
714 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA391021213 rs1209629857 |
716 | R>C | No |
ClinGen TOPMed |
|
|
rs765502137 CA7351776 |
717 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391021259 rs1309672835 |
718 | F>C | No |
ClinGen gnomAD |
|
|
rs1064796870 CA16619823 RCV000483854 |
719 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7351777 rs775702816 |
719 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391021304 rs1283849893 |
720 | I>V | No |
ClinGen gnomAD |
|
|
rs764472618 CA7351779 |
723 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7351780 rs752054736 |
725 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752054736 CA266980851 |
725 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs199986472 CA7351783 |
726 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767021083 COSM953447 CA7351782 |
726 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1200514743 CA391021565 |
731 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 733 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279969795 CA391021628 |
733 | L>R | No |
ClinGen TOPMed |
|
|
TCGA novel rs751992666 CA266980870 |
742 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs1292909632 CA391021908 |
743 | I>T | No |
ClinGen TOPMed |
|
|
rs1190439146 CA391021895 |
743 | I>V | No |
ClinGen gnomAD |
|
|
rs1371973387 CA391022008 |
745 | T>A | No |
ClinGen gnomAD |
|
|
rs1595601139 CA391022423 |
756 | L>F | No |
ClinGen Ensembl |
|
|
rs894255413 CA266980875 |
757 | G>S | No |
ClinGen Ensembl |
|
|
rs748090258 CA7351789 |
758 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA391022484 rs1303476982 |
759 | R>C | No |
ClinGen gnomAD |
|
|
rs1369675175 CA391022488 |
759 | R>H | No |
ClinGen gnomAD |
|
|
CA7351794 rs775651372 |
762 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7351796 rs768985665 |
769 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 774 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566999327 CA391023117 |
783 | E>K | No |
ClinGen Ensembl |
|
|
CA391023139 rs1383023254 |
784 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 786 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181434652 CA391023161 |
786 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1233503817 CA391023211 |
788 | Y>C | No |
ClinGen gnomAD |
|
|
CA7351804 rs754721239 |
788 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA266980959 rs976305931 |
792 | C>Y | No |
ClinGen Ensembl |
|
|
CA7351808 rs777505460 |
793 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1261838392 CA391023391 |
795 | V>G | No |
ClinGen gnomAD |
|
|
rs1381588698 CA391023358 |
795 | V>M | No |
ClinGen TOPMed |
|
|
rs749479158 CA7351812 |
798 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs953526773 CA391023485 |
799 | N>D | No |
ClinGen TOPMed |
|
|
rs953526773 CA266980991 |
799 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 800 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5606497 | 802 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs762024019 CA7351815 |
804 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA7351816 rs772485925 |
805 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7351817 rs773547996 |
812 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777277383 CA266981016 |
813 | Q>H | No |
ClinGen TOPMed |
|
|
CA391023874 rs1364337730 |
813 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs140342004 CA7351818 |
814 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA266981045 rs986169838 |
816 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7351820 rs753467717 |
817 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266981053 rs941994899 |
823 | V>A | No |
ClinGen TOPMed |
|
|
CA391024398 rs1190498417 |
827 | Y>* | No |
ClinGen TOPMed |
|
|
rs1047679128 CA266981060 |
828 | K>R | No |
ClinGen TOPMed |
|
|
rs758088144 CA7351824 |
831 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755569688 CA266981108 |
833 | V>I | No |
ClinGen Ensembl |
|
|
CA7351827 rs570580763 |
834 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM166535 | 835 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391024785 rs1176442421 |
839 | T>S | No |
ClinGen gnomAD |
|
|
CA391024788 rs1473561672 |
840 | V>I | No |
ClinGen gnomAD |
|
|
CA391024964 rs1354581545 |
844 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7351828 rs749426107 |
846 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs758717208 CA7351850 |
853 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7351849 rs748291368 |
853 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1345600865 CA391026812 |
855 | E>K | No |
ClinGen TOPMed |
|
| COSM953448 | 857 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391026927 rs1297892930 |
860 | E>Q | No |
ClinGen gnomAD |
|
|
CA266981776 rs865971340 |
862 | R>C | No |
ClinGen TOPMed |
|
|
CA266981769 rs865971340 |
862 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 864 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771428113 CA7351853 |
868 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4049132 | 869 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7351854 rs368026551 |
871 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184868637 CA7351855 |
875 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 879 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 880 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM274908 | 881 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391027489 rs1157300034 |
883 | K>R | No |
ClinGen TOPMed |
|
|
CA7351856 rs775105649 |
884 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 890 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442965290 CA391027638 |
891 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3493851 CA266981855 rs267603881 |
894 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA391027719 rs1316843849 |
895 | N>S | No |
ClinGen gnomAD |
|
|
CA266981871 rs956026037 |
896 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 896 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7351862 rs750307137 |
897 | P>S | No |
ClinGen ExAC |
|
|
CA7351864 rs760712164 |
898 | I>T | No |
ClinGen ExAC |
|
|
rs1235292023 CA391027787 |
898 | I>V | No |
ClinGen TOPMed |
|
|
rs1566999778 CA391027911 |
905 | M>T | No |
ClinGen Ensembl |
|
|
CA391028319 rs1390186634 |
914 | R>C | No |
ClinGen gnomAD |
|
| COSM4049133 | 924 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA266982968 rs753727576 |
925 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7351884 rs753727576 |
925 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199663361 CA7351885 |
927 | L>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs1349922267 CA391028601 |
929 | Q>K | No |
ClinGen gnomAD |
|
|
CA266982984 rs767866683 |
930 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 932 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228912585 CA391028688 |
932 | D>V | No |
ClinGen gnomAD |
|
|
rs764291219 CA7351886 |
934 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751810989 CA7351887 |
940 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1244840377 CA391028877 |
942 | A>V | No |
ClinGen TOPMed |
|
|
rs1257149150 CA391028903 |
944 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 954 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754345817 CA7351912 |
960 | H>L | No |
ClinGen ExAC |
|
|
CA266985108 rs778763814 |
960 | H>Q | No |
ClinGen Ensembl |
|
| COSM3493852 | 963 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953449 | 964 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1219376694 CA391030295 |
974 | P>Q | No |
ClinGen TOPMed |
|
|
CA391030314 rs1478840996 |
975 | I>M | No |
ClinGen gnomAD |
|
|
CA391030316 rs1165792011 |
976 | E>K | No |
ClinGen gnomAD |
|
|
CA391030520 rs1567001479 |
986 | M>I | No |
ClinGen Ensembl |
|
|
CA391030545 rs1368843946 |
987 | F>L | No |
ClinGen TOPMed |
|
|
rs1302136713 CA391030615 |
991 | M>T | No |
ClinGen gnomAD |
|
|
CA391030638 rs1222754772 |
992 | V>G | No |
ClinGen Ensembl |
|
|
CA391030669 rs1225249612 |
995 | S>P | No |
ClinGen gnomAD |
|
|
CA391030682 rs1194361096 |
996 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391030706 rs1269839971 |
997 | P>L | No |
ClinGen gnomAD |
|
|
CA391030762 rs1207782480 |
1000 | Q>R | No |
ClinGen gnomAD |
|
|
rs765669418 CA7351933 |
1008 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1008 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240809477 CA391031836 |
1009 | H>P | No |
ClinGen gnomAD |
|
| COSM953451 | 1009 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs533720836 RCV001091155 |
1010 | Y>F | No |
ClinVar dbSNP |
|
|
rs533720836 CA266986830 |
1010 | Y>S | No |
ClinGen 1000Genomes |
|
|
rs1370153222 CA391031916 |
1012 | L>S | No |
ClinGen gnomAD |
|
|
rs1158585472 CA391031946 |
1013 | T>I | No |
ClinGen gnomAD |
|
| COSM1368303 | 1016 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs756929342 CA7351938 |
1016 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000827211 rs1595605066 CA391032101 |
1018 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1318726169 CA391032088 |
1018 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1019 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567002577 CA391032133 |
1019 | Y>F | No |
ClinGen Ensembl |
|
|
CA391032147 rs1328036796 |
1020 | R>W | No |
ClinGen gnomAD |
|
|
CA391032266 rs1164255476 |
1028 | D>N | No |
ClinGen TOPMed |
|
|
rs570408889 CA266986856 |
1030 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570408889 CA7351943 |
1030 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772165450 CA7351944 |
1031 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1035 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000236587 rs867890249 CA10584458 |
1041 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1035544174 CA266986880 |
1044 | V>L | No |
ClinGen TOPMed |
|
|
CA391032554 rs1417308248 |
1048 | E>K | No |
ClinGen gnomAD |
|
| COSM697073 | 1048 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7351949 rs759858460 |
1052 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA391032846 rs1429535306 |
1062 | D>V | No |
ClinGen gnomAD |
|
|
rs1372987939 CA391032875 |
1065 | A>V | No |
ClinGen gnomAD |
|
|
rs1361633775 CA391032893 |
1067 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1068 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1072 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366288212 CA391032985 |
1074 | E>K | No |
ClinGen gnomAD |
|
|
rs752109929 CA7351972 |
1081 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7351973 rs761186402 |
1081 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391033162 rs1488854310 |
1086 | I>V | No |
ClinGen gnomAD |
|
|
rs2048039273 RCV001310724 |
1094 | D>Y | No |
ClinVar dbSNP |
|
| TCGA novel | 1099 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547313887 CA7351977 |
1099 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392403831 CA391033384 |
1101 | E>A | No |
ClinGen gnomAD |
|
|
rs1323484772 CA391033423 |
1105 | V>I | No |
ClinGen gnomAD |
|
|
rs753742264 CA7351978 |
1107 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA266987250 rs1006582484 |
1108 | D>G | No |
ClinGen Ensembl |
|
|
rs1595605449 RCV001004063 CA391033630 |
1116 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1121 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459382670 CA391033719 |
1122 | S>C | No |
ClinGen TOPMed |
|
|
rs879254164 RCV000236857 CA10584459 |
1124 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1128 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391033852 rs1567002916 |
1130 | K>R | No |
ClinGen Ensembl |
|
|
rs774815375 CA7352007 |
1137 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs768880140 CA7352006 |
1137 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA391034006 rs1165543057 |
1138 | N>D | No |
ClinGen TOPMed |
|
|
CA7352008 rs748595916 |
1138 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs773866301 CA7352010 |
1139 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1412377186 CA391034038 |
1139 | M>V | No |
ClinGen gnomAD |
|
|
rs776128986 CA7352012 |
1143 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868078939 CA266987552 |
1143 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7352014 rs764937390 |
1144 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs752596293 CA7352015 |
1145 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7352016 rs758205241 |
1148 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1595605555 CA391035052 |
1149 | S>P | No |
ClinGen Ensembl |
|
|
rs747570801 CA7352027 |
1150 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770538736 CA7352028 |
1155 | Q>R | No |
ClinGen ExAC gnomAD |
|
| COSM269068 | 1157 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200290958 CA266987662 |
1160 | T>M | No |
ClinGen gnomAD |
|
|
rs1265803876 CA391035291 |
1165 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775012149 CA7352032 |
1172 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000420819 CA16606481 rs1057524432 |
1178 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA391035397 rs1459407759 |
1178 | R>W | No |
ClinGen TOPMed |
|
|
COSM953453 rs1003718521 CA266989071 |
1191 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs761720831 CA7352055 |
1192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767427937 CA7352056 |
1195 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1267132371 CA391035677 |
1195 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1210 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595606684 CA391035858 |
1211 | I>V | No |
ClinGen Ensembl |
|
|
rs758763603 CA7352060 |
1214 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7352063 rs757568646 |
1215 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1217 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391035939 rs1595606698 |
1218 | W>G | No |
ClinGen Ensembl |
|
|
CA391035951 rs1301519837 |
1219 | G>R | No |
ClinGen gnomAD |
|
|
CA7352065 rs746386497 |
1224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7352066 rs755626459 |
1226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000725714 CA266989140 COSM953454 |
1226 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA266989151 rs765275336 |
1231 | A>V | No |
ClinGen Ensembl |
|
|
rs1287129606 CA391036140 |
1237 | A>T | No |
ClinGen gnomAD |
|
|
rs747869675 CA7352071 |
1250 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs369914512 VAR_069438 CA7352069 |
1250 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7352070 rs369914512 |
1250 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1251 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391036730 rs1595606741 |
1254 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1255 | T>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775771488 CA7352076 |
1259 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA391036835 rs1190011519 |
1260 | D>N | No |
ClinGen TOPMed |
|
|
RCV000236037 CA10584461 rs879253961 |
1261 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1315401599 CA391036890 |
1263 | K>E | No |
ClinGen gnomAD |
|
|
RCV000500480 rs1555408996 CA391036939 |
1265 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM4918663 | 1265 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6139938 | 1266 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs764348397 CA7352078 |
1267 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7352079 rs751865408 |
1268 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449370459 CA391038026 |
1270 | N>K | No |
ClinGen gnomAD |
|
|
CA391038024 rs1246328675 |
1270 | N>S | No |
ClinGen gnomAD |
|
|
COSM1368306 rs1189823431 CA391038045 |
1272 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated gnomAD |
|
CA391038048 rs1189823431 |
1272 | R>L | No |
ClinGen gnomAD |
|
|
CA391038065 rs1403976093 |
1273 | P>L | No |
ClinGen gnomAD |
|
|
rs1422044803 CA391038055 |
1273 | P>S | No |
ClinGen gnomAD |
|
|
CA7352112 rs746719683 |
1286 | K>E | No |
ClinGen ExAC |
|
|
CA391038290 rs1327311938 |
1287 | F>L | No |
ClinGen gnomAD |
|
|
CA7352116 rs201107645 |
1293 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA266993651 rs899068418 |
1295 | E>K | No |
ClinGen gnomAD |
|
|
CA7352117 rs774359082 |
1297 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391038498 rs1311825688 |
1298 | A>T | No |
ClinGen gnomAD |
|
|
CA266993653 rs867554814 |
1300 | A>D | No |
ClinGen Ensembl |
|
|
CA391038540 rs1335711922 |
1301 | K>R | No |
ClinGen gnomAD |
|
|
CA7352119 rs753819954 |
1303 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762078700 CA7352118 |
1303 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1308 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217068951 CA391038643 |
1308 | D>N | No |
ClinGen gnomAD |
|
|
CA391038679 rs1244347213 |
1309 | T>I | No |
ClinGen gnomAD |
|
|
CA391038701 rs1484646489 |
1311 | L>F | No |
ClinGen gnomAD |
|
|
CA266993669 rs895568337 |
1313 | S>G | No |
ClinGen Ensembl |
|
|
CA391038752 rs1471974846 |
1314 | G>D | No |
ClinGen gnomAD |
|
|
CA391038782 rs1595608287 |
1315 | S>R | No |
ClinGen Ensembl |
|
|
rs80342281 CA266993678 |
1316 | E>G | No |
ClinGen Ensembl |
|
|
rs1419100412 CA391038826 |
1318 | R>C | No |
ClinGen gnomAD |
|
|
CA7352120 rs143114300 |
1318 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA266993704 rs370976687 |
1319 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs1456265870 CA391038868 |
1320 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1322 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292923605 CA391039060 |
1327 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA16619824 RCV000484802 rs763711252 |
1327 | Q>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs868387324 CA266993875 |
1329 | L>F | No |
ClinGen Ensembl |
|
|
rs1285376370 CA391039139 |
1330 | K>R | No |
ClinGen TOPMed |
|
|
CA391039174 rs1567005720 |
1332 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1350425668 CA391039249 |
1339 | V>F | No |
ClinGen gnomAD |
|
|
CA266993877 rs759503395 |
1340 | W>R | No |
ClinGen Ensembl |
|
|
rs111306376 CA266993878 |
1343 | I>V | No |
ClinGen Ensembl |
|
|
CA7352147 rs767404799 |
1344 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA266993883 rs575285403 |
1344 | D>N | No |
ClinGen Ensembl |
|
| COSM4826676 | 1345 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1311123937 CA391039350 |
1347 | K>N | No |
ClinGen TOPMed |
|
|
CA266993893 rs1047509819 |
1348 | E>Q | No |
ClinGen TOPMed |
|
|
rs1436842162 CA391039377 |
1350 | P>S | No |
ClinGen gnomAD |
|
|
rs750180922 COSM3987506 CA7352148 |
1352 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| TCGA novel | 1357 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3401119 | 1360 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1368307 | 1360 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1361 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1363 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391039589 rs755815163 |
1364 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766244729 CA7352169 |
1365 | A>S | No |
ClinGen ExAC gnomAD |
|
| COSM3493857 | 1365 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1461177565 CA391039607 |
1366 | L>P | No |
ClinGen gnomAD |
|
|
CA391039706 rs1217557889 |
1376 | R>G | No |
ClinGen TOPMed |
|
|
rs778731013 CA7352172 |
1376 | R>Q | No |
ClinGen ExAC gnomAD |
|
| COSM5513060 | 1378 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7352176 rs746142702 |
1380 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1161153708 CA391039880 |
1392 | G>V | No |
ClinGen Ensembl |
|
|
CA391039900 rs1441108389 |
1394 | M>L | No |
ClinGen TOPMed |
|
|
rs368615686 CA7352199 |
1398 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391040000 rs1224711745 COSM1477372 |
1400 | V>A | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| COSM953455 | 1405 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4049136 | 1411 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1064795677 RCV000479120 CA16619825 |
1412 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA391040297 rs1445333829 |
1420 | L>I | No |
ClinGen TOPMed |
|
|
rs1364506950 CA391040361 |
1423 | N>D | No |
ClinGen gnomAD |
|
|
CA391040487 rs1455776554 |
1428 | E>V | No |
ClinGen gnomAD |
|
|
CA7352205 rs776179822 |
1432 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7352207 rs765070068 |
1434 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1158222416 CA391040611 |
1434 | I>T | No |
ClinGen TOPMed |
|
| COSM4049137 | 1435 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs752604757 CA7352208 |
1436 | D>A | No |
ClinGen ExAC |
|
|
CA391040662 rs752604757 |
1436 | D>G | No |
ClinGen ExAC |
|
|
CA391040693 rs1305638906 |
1437 | V>A | No |
ClinGen gnomAD |
|
|
rs79375714 CA266994597 |
1442 | N>I | No |
ClinGen Ensembl |
|
|
CA266994595 rs79375714 |
1442 | N>T | No |
ClinGen Ensembl |
|
|
rs750457011 CA7352211 |
1445 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7352214 rs754025510 |
1449 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA391041966 rs1487315030 |
1451 | L>F | No |
ClinGen TOPMed |
|
|
rs768149343 CA266994632 |
1452 | V>M | No |
ClinGen Ensembl |
|
| COSM4817967 | 1467 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1401420048 CA391042297 |
1469 | V>M | No |
ClinGen Ensembl |
|
|
rs781421178 CA266994868 |
1476 | D>N | No |
ClinGen Ensembl |
|
| COSM1477373 | 1484 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1305558731 CA391042528 |
1485 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1486 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745509545 CA7352240 |
1487 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215238724 CA391042566 |
1488 | R>C | No |
ClinGen TOPMed |
|
|
rs1227534612 CA391042702 |
1498 | K>R | No |
ClinGen TOPMed |
|
|
rs368821864 CA7352243 |
1501 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768457729 CA7352244 |
1502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7352247 rs766475544 |
1505 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA391042810 rs1177087868 |
1511 | P>A | No |
ClinGen gnomAD |
|
| COSM3493858 | 1511 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1511 | P>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1516 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000235630 rs879254213 CA10584462 |
1527 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7352271 rs775825001 |
1533 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000757190 CA391043144 rs1567006939 |
1542 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7352274 rs751816690 |
1543 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595609821 CA391043157 |
1544 | W>G | No |
ClinGen Ensembl |
|
|
rs78499581 CA266995607 |
1545 | V>G | No |
ClinGen Ensembl |
|
|
rs767868450 CA7352276 |
1553 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1554 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391043228 rs1595609838 |
1554 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1557 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4049139 | 1558 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391043261 rs1595609846 |
1559 | H>P | No |
ClinGen Ensembl |
|
|
CA391043296 rs1595609857 |
1565 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1567 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7352299 rs753285530 |
1571 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391043392 rs778389365 |
1577 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778389365 CA7352301 |
1577 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000236919 rs879254112 CA10584463 |
1581 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3493859 | 1583 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1404885274 CA391043442 |
1584 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA266995819 rs866469461 |
1587 | L>F | No |
ClinGen Ensembl |
|
|
CA266995821 rs1002358544 |
1588 | V>I | No |
ClinGen TOPMed |
|
|
CA7352305 rs746930956 |
1589 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs376671826 CA7352304 |
1589 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1592 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391043497 rs1159404433 |
1593 | N>S | No |
ClinGen TOPMed |
|
|
CA391043505 rs1233593354 |
1594 | I>T | No |
ClinGen gnomAD |
|
|
CA7352306 rs371276643 |
1600 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391043580 rs1440754457 |
1605 | A>V | No |
ClinGen gnomAD |
|
| COSM6139936 | 1606 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs748439827 CA7352311 |
1613 | K>R | No |
ClinGen ExAC |
|
|
rs960963989 CA266995867 |
1614 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1623 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1628 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1636 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4391222 | 1639 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391044957 rs1447381164 |
1641 | I>F | No |
ClinGen gnomAD |
|
|
rs772223606 CA7352330 |
1648 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266997364 rs772850112 |
1651 | Q>R | No |
ClinGen Ensembl |
|
|
CA7352332 rs747334023 |
1657 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA391045094 rs1452214964 |
1659 | A>V | No |
ClinGen gnomAD |
|
|
rs771306204 CA7352333 |
1660 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA391045100 rs1164439449 |
1661 | V>I | No |
ClinGen Ensembl |
|
|
COSM4497499 rs1386055609 CA391045110 |
1662 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs117199211 CA391045146 |
1667 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs925942859 CA391045147 |
1668 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7352335 rs764641693 |
1669 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762560304 CA7352337 |
1671 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA391045176 rs1316787179 |
1672 | V>A | No |
ClinGen TOPMed |
|
|
rs1567007853 CA391045198 |
1676 | I>V | No |
ClinGen Ensembl |
|
|
rs1363933930 CA391045221 |
1679 | R>P | No |
ClinGen TOPMed |
|
|
CA391045217 rs1351401023 |
1679 | R>W | No |
ClinGen gnomAD |
|
|
rs763803992 CA266997402 |
1680 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763803992 CA7352338 |
1680 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7352352 COSM1368309 rs770272627 |
1685 | M>I | large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
|
CA7352351 rs746233284 |
1685 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA391045291 rs1257985362 |
1688 | T>A | No |
ClinGen gnomAD |
|
|
rs1442055313 CA391045336 |
1695 | H>Y | No |
ClinGen gnomAD |
|
|
CA391045356 rs1195463096 |
1698 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1700 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192340814 CA391045387 |
1701 | W>C | No |
ClinGen gnomAD |
|
|
rs1394803691 COSM3814257 CA391045389 |
1702 | L>F | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA391045399 rs1214266499 |
1703 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7352356 rs774112675 |
1707 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1273779803 CA391045424 |
1707 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1709 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595611251 CA391045452 |
1711 | V>I | No |
ClinGen Ensembl |
|
|
rs375249187 CA7352357 |
1717 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs77319596 CA266997561 |
1728 | G>C | No |
ClinGen Ensembl |
|
|
rs77319596 CA266997558 |
1728 | G>S | No |
ClinGen Ensembl |
|
| COSM3369894 | 1730 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391045606 rs1567007982 |
1731 | T>P | No |
ClinGen Ensembl |
|
|
rs781519120 CA266997570 |
1736 | N>I | No |
ClinGen Ensembl |
|
|
rs1064797192 RCV000488070 CA16621665 |
1737 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs777895943 CA7352364 |
1737 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA391045703 rs751768340 |
1738 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7352365 rs751768340 |
1738 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266997584 rs1038905111 |
1739 | I>N | No |
ClinGen TOPMed |
|
| COSM953456 | 1739 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953457 | 1741 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391045785 rs1392613151 |
1743 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1745 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7352384 rs757314893 |
1747 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199740595 CA7352385 |
1750 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263444622 CA391046123 |
1754 | A>D | No |
ClinGen gnomAD |
|
|
rs370679038 CA266997742 |
1756 | I>R | No |
ClinGen ESP |
|
|
CA391046154 rs1595611380 |
1756 | I>V | No |
ClinGen Ensembl |
|
|
CA266997743 rs968042654 |
1758 | W>* | No |
ClinGen TOPMed |
|
|
CA7352389 rs749796285 |
1762 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144147463 CA7352392 |
1765 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391046409 rs1470753138 |
1768 | S>T | No |
ClinGen TOPMed |
|
|
CA391046415 rs770746870 |
1769 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs776353972 CA7352396 |
1769 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7352395 rs770746870 |
1769 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs546844198 CA7352399 |
1772 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1316914842 CA391046479 |
1772 | G>S | No |
ClinGen gnomAD |
|
|
rs1418482416 CA391046590 |
1777 | P>H | No |
ClinGen gnomAD |
|
| COSM953459 | 1783 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA266997887 rs183510947 |
1787 | V>A | No |
ClinGen 1000Genomes |
|
|
rs1223144450 CA391046755 |
1787 | V>I | No |
ClinGen TOPMed |
|
|
rs1277912523 CA391046784 |
1789 | L>V | No |
ClinGen gnomAD |
|
|
rs1241550540 CA391046815 |
1790 | N>S | No |
ClinGen TOPMed gnomAD |
|
| COSM4049141 | 1800 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391046948 rs1346194464 |
1802 | P>L | No |
ClinGen gnomAD |
|
| COSM4049142 | 1804 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4679784 CA7352412 rs746543001 |
1804 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA391046998 rs1211592233 |
1808 | L>Q | No |
ClinGen gnomAD |
|
|
CA266998341 rs377744517 |
1812 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1172992833 CA391047655 |
1814 | E>D | No |
ClinGen gnomAD |
|
|
CA7352434 rs745562998 |
1820 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1324576458 CA391047805 |
1822 | T>S | No |
ClinGen gnomAD |
|
|
CA266998394 rs971750436 |
1824 | S>T | No |
ClinGen Ensembl |
|
|
rs779885899 CA7352437 |
1826 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA266998406 rs1025889998 |
1829 | K>N | No |
ClinGen gnomAD |
|
|
rs1259488868 CA391048020 |
1830 | I>M | No |
ClinGen gnomAD |
|
|
CA7352438 rs529978859 |
1830 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391047997 rs1316995979 |
1830 | I>V | No |
ClinGen gnomAD |
|
|
rs1332545356 CA391048038 |
1831 | D>V | No |
ClinGen gnomAD |
|
|
rs1209197570 CA391048066 |
1832 | N>D | No |
ClinGen gnomAD |
|
|
CA391048079 rs1446476604 |
1832 | N>S | No |
ClinGen TOPMed |
|
|
rs150846332 CA7352440 |
1833 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7352441 rs771182799 |
1834 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776960857 CA7352442 |
1839 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1841 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391048240 rs1247116985 |
1841 | Q>R | No |
ClinGen TOPMed |
|
|
rs951591727 CA266998424 |
1845 | Y>F | No |
ClinGen Ensembl |
|
|
CA7352445 rs752938954 |
1855 | Q>K | No |
ClinGen ExAC |
|
|
CA391048503 rs1164357880 |
1855 | Q>R | No |
ClinGen gnomAD |
|
|
CA266998457 rs893299206 |
1860 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA391048742 rs1567008463 |
1867 | N>I | No |
ClinGen Ensembl |
|
|
CA391049058 rs1567008470 |
1883 | P>L | No |
ClinGen Ensembl |
|
| COSM5053798 | 1884 | L>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391049114 rs748999002 |
1887 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203144221 CA391049158 |
1889 | Y>C | No |
ClinGen gnomAD |
|
| COSM6075313 | 1893 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1488717977 CA391049300 |
1897 | E>V | No |
ClinGen gnomAD |
|
|
CA391049359 rs1370693832 |
1902 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1902 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6075312 | 1906 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1918 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391049800 COSM199822 rs1183114043 |
1925 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs745893369 CA7352477 |
1925 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1595612427 CA391049813 |
1926 | F>V | No |
ClinGen Ensembl |
|
|
CA391050152 rs1375557094 |
1939 | Q>L | No |
ClinGen gnomAD |
|
|
rs372377918 CA7352500 |
1943 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA391051116 rs1595612984 |
1951 | V>G | No |
ClinGen Ensembl |
|
|
CA391051126 rs1320583631 |
1953 | A>S | No |
ClinGen gnomAD |
|
| COSM3968673 | 1955 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs867427292 CA267001278 |
1960 | F>L | No |
ClinGen Ensembl |
|
|
rs76714579 CA267001292 |
1961 | N>T | No |
ClinGen Ensembl |
|
|
CA391051435 rs1057518287 |
1962 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs764893204 CA7352507 |
1970 | A>S | No |
ClinGen ExAC gnomAD |
|
| COSM4049143 | 1972 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391051745 rs1595613019 |
1975 | V>G | No |
ClinGen Ensembl |
|
|
rs1423762384 CA391051740 |
1975 | V>L | No |
ClinGen gnomAD |
|
|
CA391051772 rs1467078079 |
1976 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1979 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1981 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM953462 rs200934709 CA7352510 |
1983 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA267001346 rs866013244 |
1983 | R>S | No |
ClinGen Ensembl |
|
|
rs1295125727 CA391051966 |
1985 | H>D | No |
ClinGen gnomAD |
|
| COSM3493862 | 1985 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs957164618 CA267001359 |
1987 | N>I | No |
ClinGen gnomAD |
|
|
rs957164618 CA391051992 |
1987 | N>S | No |
ClinGen gnomAD |
|
|
COSM1514857 COSM6139935 CA391052012 rs1399670309 |
1988 | P>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM697069 | 1990 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391052077 rs1312630267 |
1991 | D>G | No |
ClinGen gnomAD |
|
|
rs750380197 CA7352538 |
1993 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391052475 rs1376892171 |
1999 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 2002 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7352543 rs747348966 |
2010 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7352545 rs781701141 |
2011 | D>H | No |
ClinGen ExAC gnomAD |
|
| COSM1300390 | 2018 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1595613995 CA391052820 |
2019 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 2020 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939689573 CA267002584 |
2023 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391052954 rs1232475320 |
2029 | P>L | No |
ClinGen TOPMed |
|
|
CA391053003 rs1178991693 |
2031 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2037 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7352550 rs768380390 |
2038 | S>N | No |
ClinGen ExAC gnomAD |
|
| COSM4049144 | 2043 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs773200201 CA391053297 |
2045 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7352554 rs773200201 |
2045 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2045 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760664167 CA7352555 |
2047 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA391053416 rs1433781008 |
2050 | A>G | No |
ClinGen gnomAD |
|
|
rs1395925460 CA391053438 |
2053 | M>L | No |
ClinGen gnomAD |
|
| COSM4850966 | 2056 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391053521 rs1255651657 |
2061 | T>A | No |
ClinGen gnomAD |
|
|
rs1199222996 CA391053619 |
2067 | N>K | No |
ClinGen gnomAD |
|
|
rs751769427 CA7352560 |
2070 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757634780 CA7352561 |
2071 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391053712 rs1191556291 |
2072 | F>L | No |
ClinGen gnomAD |
|
| COSM5516911 | 2073 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2074 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391053901 COSM1562738 rs1356421450 |
2075 | L>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs1244011747 CA391053943 |
2077 | D>N | No |
ClinGen gnomAD |
|
|
CA7352586 rs749856076 |
2079 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| COSM3885636 | 2082 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391054104 rs1384843594 |
2085 | H>L | No |
ClinGen TOPMed |
|
|
rs1555409850 RCV000521107 CA391054152 |
2087 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA391054216 rs1387399556 COSM1322786 |
2091 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000520997 CA267002818 rs866242352 COSM4049145 |
2091 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 2092 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391054313 rs1392394439 |
2095 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 2096 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1037029765 CA267002823 |
2100 | A>T | No |
ClinGen TOPMed |
|
|
CA391054598 rs1316819123 |
2109 | Q>K | No |
ClinGen Ensembl |
|
|
rs1036673776 CA267002825 |
2111 | I>M | No |
ClinGen Ensembl |
|
|
CA7352594 rs770752094 |
2113 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA391054820 rs1187063688 |
2120 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 2122 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391054883 rs1465812739 |
2124 | E>A | No |
ClinGen TOPMed |
|
|
CA391054892 rs1270730106 |
2124 | E>D | No |
ClinGen TOPMed |
|
|
rs866945552 CA267002833 |
2130 | N>D | No |
ClinGen Ensembl |
|
| COSM552221 | 2133 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4840527 | 2138 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391055310 rs1355108231 |
2144 | T>M | No |
ClinGen gnomAD |
|
|
rs1595614476 CA391055446 |
2153 | D>G | No |
ClinGen Ensembl |
|
|
CA391055485 rs1390255004 |
2155 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 2155 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751081074 CA7352630 |
2162 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA267003360 rs778882542 |
2163 | D>N | No |
ClinGen Ensembl |
|
|
rs1567010427 CA391055597 RCV000678314 |
2164 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7352632 rs780851039 |
2169 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391055850 rs1222784464 |
2179 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 2181 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2183 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391055984 rs1189061641 |
2188 | E>A | No |
ClinGen TOPMed |
|
|
rs369648890 CA267003399 |
2188 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA7352636 rs749317390 |
2192 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367705340 CA391056105 |
2195 | D>A | No |
ClinGen gnomAD |
|
|
CA391056107 rs1367705340 |
2195 | D>G | No |
ClinGen gnomAD |
|
|
CA391056140 rs1261310237 |
2197 | E>G | No |
ClinGen gnomAD |
|
|
RCV000425065 rs1057524545 CA16606878 |
2199 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1447594945 CA391056213 |
2202 | M>I | No |
ClinGen TOPMed |
|
|
CA7352640 rs771240057 |
2202 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391057018 rs1595615061 |
2209 | Q>H | No |
ClinGen Ensembl |
|
|
rs374106455 CA267004003 |
2209 | Q>R | No |
ClinGen ESP |
|
|
rs1307577502 CA391057021 |
2210 | L>I | No |
ClinGen gnomAD |
|
|
CA7352659 rs746158536 |
2211 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2213 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267004005 rs1046079714 |
2215 | Q>E | No |
ClinGen TOPMed |
|
| COSM3987507 | 2216 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4936243 | 2218 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953467 | 2226 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA267004045 rs929749827 |
2231 | S>T | No |
ClinGen TOPMed |
|
|
CA7352667 rs750033251 |
2232 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2232 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2233 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7352669 rs765956720 |
2235 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA267004052 rs765956720 |
2235 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1175510296 CA391057476 |
2241 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 2243 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407435640 CA391057528 |
2244 | L>F | No |
ClinGen gnomAD |
|
|
rs1046784611 CA267004068 |
2246 | G>S | No |
ClinGen TOPMed |
|
|
CA391057663 rs1595615112 |
2251 | A>G | No |
ClinGen Ensembl |
|
|
rs1440939347 CA391057675 |
2252 | H>Y | No |
ClinGen gnomAD |
|
|
rs778972833 CA7352672 |
2254 | I>V | No |
ClinGen ExAC gnomAD |
|
| COSM953469 | 2260 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1330058411 CA391057922 |
2265 | Y>C | No |
ClinGen TOPMed |
|
|
rs745939537 CA7352676 |
2270 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1437010377 CA391058057 |
2276 | T>I | No |
ClinGen gnomAD |
|
|
CA391058171 rs1229957063 |
2282 | H>Y | No |
ClinGen TOPMed |
|
|
rs374569905 CA7352679 |
2283 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7352678 rs374569905 |
2283 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM4049146 | 2284 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs779194599 CA7352700 |
2291 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 2298 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391058640 rs1315657444 |
2301 | I>V | No |
ClinGen gnomAD |
|
|
rs1435144120 CA391058706 |
2304 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA267004375 rs956609153 |
2306 | D>N | No |
ClinGen gnomAD |
|
|
CA267004379 rs981974629 |
2310 | E>D | No |
ClinGen TOPMed |
|
| COSM2262218 | 2310 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391058847 rs1595615302 |
2311 | W>G | No |
ClinGen Ensembl |
|
|
rs1595615306 CA391058875 |
2312 | V>G | No |
ClinGen Ensembl |
|
| COSM2262220 | 2334 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7352716 rs753931323 |
2337 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469258300 CA391059551 |
2339 | V>L | No |
ClinGen gnomAD |
|
| COSM3419633 | 2345 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6139934 | 2346 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4652448 | 2351 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000522286 rs1555410129 CA391059865 |
2355 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7352739 rs372635298 |
2360 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 2361 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2363 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2364 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204874268 CA391060049 |
2367 | D>E | No |
ClinGen gnomAD |
|
|
CA7352741 rs781770062 |
2368 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA391060099 rs1442792138 |
2372 | D>N | No |
ClinGen TOPMed |
|
|
CA391060143 rs1249357752 |
2374 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1249357752 CA391060141 |
2374 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1241731098 CA391060211 |
2380 | A>V | No |
ClinGen TOPMed |
|
|
rs979730486 CA267006107 |
2382 | L>Q | No |
ClinGen Ensembl |
|
|
rs773952714 CA7352746 |
2383 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2384 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397429831 CA391060243 |
2384 | S>N | No |
ClinGen gnomAD |
|
|
rs771951943 CA7352748 |
2386 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1301304334 CA391060265 |
2386 | P>S | No |
ClinGen gnomAD |
|
|
rs1285741549 CA391060276 |
2387 | L>P | No |
ClinGen gnomAD |
|
|
CA391060328 rs1439899908 |
2392 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765368725 CA7352751 |
2394 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765368725 CA391060350 |
2394 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7352752 rs752951988 |
2395 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs763030235 COSM953471 CA7352753 |
2396 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA391060386 rs1411447093 |
2399 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391060394 rs1431309653 |
2400 | G>S | No |
ClinGen gnomAD |
|
|
CA7352758 rs755668441 |
2403 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1355909155 CA391060464 |
2406 | E>G | No |
ClinGen gnomAD |
|
|
rs1161896109 CA391060456 |
2406 | E>K | No |
ClinGen gnomAD |
|
|
rs945555313 CA267006203 COSM432680 |
2408 | A>T | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| COSM459227 | 2410 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1309639905 CA391060523 |
2412 | M>I | No |
ClinGen gnomAD |
|
|
rs1296667481 CA391060518 |
2412 | M>K | No |
ClinGen gnomAD |
|
|
rs771898765 CA7352763 |
2412 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA266952006 rs927181915 |
2417 | R>K | No |
ClinGen TOPMed |
|
|
CA391001733 rs529589123 |
2419 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529589123 CA7352781 |
2419 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391001742 rs1212848705 |
2421 | T>A | No |
ClinGen TOPMed |
|
|
rs770803375 CA7352783 |
2421 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA266952021 rs374117928 |
2423 | M>V | No |
ClinGen ESP |
|
|
rs1283596757 CA391001761 |
2424 | Q>E | No |
ClinGen TOPMed |
|
|
COSM379048 rs1406145337 CA391001773 |
2425 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA391001771 rs1406145337 |
2425 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7352787 COSM1204755 rs774418749 |
2428 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA391001799 rs1468721324 |
2429 | S>C | No |
ClinGen gnomAD |
|
|
rs773669775 CA391001809 |
2431 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7352790 rs773669775 |
2431 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391001817 rs1343397232 |
2432 | L>P | No |
ClinGen TOPMed |
|
|
CA391001822 rs1595617149 |
2433 | V>A | No |
ClinGen Ensembl |
|
|
CA7352792 rs766777466 |
2436 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754413236 CA7352793 |
2436 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764860331 CA7352795 |
2439 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757980661 CA391001863 |
2440 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs866372089 CA266952082 |
2442 | Q>* | No |
ClinGen Ensembl |
|
|
CA391001905 rs1231375066 |
2446 | I>F | No |
ClinGen gnomAD |
|
|
CA7352798 rs777436032 |
2447 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7352799 rs746782631 |
2449 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA391001938 rs1415287907 |
2451 | R>C | No |
ClinGen gnomAD |
|
|
CA266952120 rs528603081 |
2451 | R>H | No |
ClinGen 1000Genomes |
|
|
rs780986838 CA7352801 |
2456 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2460 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595617186 CA391002015 |
2463 | H>P | No |
ClinGen Ensembl |
|
|
CA391002027 rs1471146240 |
2465 | A>P | No |
ClinGen gnomAD |
|
|
CA391002026 rs1471146240 |
2465 | A>T | No |
ClinGen gnomAD |
|
|
rs1327313169 CA391002031 |
2465 | A>V | No |
ClinGen gnomAD |
|
|
rs1441059709 CA391002045 |
2467 | R>L | No |
ClinGen gnomAD |
|
|
CA7352804 rs774419538 |
2470 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1220699480 CA391002067 |
2471 | Q>R | No |
ClinGen gnomAD |
|
|
rs201407474 CA266952168 |
2472 | Y>H | No |
ClinGen Ensembl |
|
|
CA266952173 rs889332509 |
2475 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs557305014 CA7352811 |
2476 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391002106 rs1198848397 |
2477 | P>T | No |
ClinGen gnomAD |
|
|
rs752165315 CA7352813 |
2478 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA391002129 rs1229845145 |
2480 | P>L | No |
ClinGen TOPMed |
|
|
rs1018948570 CA391002126 |
2480 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7352816 rs570035312 |
2483 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7352817 rs200144084 |
2484 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1302033545 CA391002161 |
2485 | Q>E | No |
ClinGen gnomAD |
|
|
CA391002164 rs1346014628 |
2485 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 2487 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA266952272 rs369395256 |
2490 | I>V | No |
ClinGen ESP |
|
|
CA391002256 rs1284156336 |
2498 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 2499 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5596635 | 2501 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1210928829 CA391002319 |
2507 | R>Q | No |
ClinGen gnomAD |
|
| COSM6139932 | 2510 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7352837 rs753894340 |
2515 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA16621666 rs1064797193 RCV000487616 |
2515 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1562736 CA391002394 rs1172501503 |
2518 | I>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs758539644 CA7352838 |
2518 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2519 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985261953 CA266952619 |
2520 | R>K | No |
ClinGen TOPMed |
|
|
CA391002426 RCV000995253 rs147836678 |
2524 | V>L | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs370219646 CA266952645 |
2528 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA391002452 rs370219646 |
2528 | T>S | No |
ClinGen ESP gnomAD |
|
|
CA7352843 rs746209887 |
2529 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775960028 CA7352845 |
2530 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7352846 rs763389399 |
2531 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2537 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7352868 rs769101846 |
2542 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769101846 CA7352869 |
2542 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892693926 CA266953098 |
2543 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391002564 rs1434419089 |
2544 | E>Q | No |
ClinGen TOPMed |
|
|
CA391002581 rs1411705160 |
2546 | S>P | No |
ClinGen gnomAD |
|
|
CA391002588 COSM4404445 rs1301406207 |
2547 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA391002618 rs1387872742 |
2551 | K>R | No |
ClinGen gnomAD |
|
|
rs1595617656 CA391002626 |
2552 | V>G | No |
ClinGen Ensembl |
|
|
rs1325046587 CA391002641 |
2554 | Q>H | No |
ClinGen gnomAD |
|
|
COSM3732779 CA391002676 rs1324450395 |
2559 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs1567012734 CA391002682 |
2560 | H>R | No |
ClinGen Ensembl |
|
|
rs766138702 CA7352873 |
2561 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1567012740 CA391002688 |
2561 | K>R | No |
ClinGen Ensembl |
|
|
rs559164474 CA266953113 |
2562 | V>A | No |
ClinGen Ensembl |
|
|
rs559164474 CA391002696 |
2562 | V>G | No |
ClinGen Ensembl |
|
|
CA391002730 RCV000761895 rs765245789 |
2568 | V>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765245789 CA7352876 COSM697064 |
2568 | V>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7352884 rs370626934 |
2579 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7352886 rs748663437 |
2580 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000658705 rs1236685924 CA391002812 |
2581 | L>F | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1298846405 CA391002846 |
2586 | A>G | No |
ClinGen gnomAD |
|
|
CA266953242 rs147684971 |
2587 | E>K | No |
ClinGen ESP |
|
|
rs111483497 CA266953249 |
2591 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 2593 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000235681 rs879253971 CA10584467 |
2598 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs894300624 CA266953268 |
2606 | F>L | No |
ClinGen TOPMed |
|
|
rs764997194 CA7352892 |
2611 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764997194 CA391003164 |
2611 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237088147 CA391003348 |
2622 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391003430 rs1183628735 |
2628 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2628 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391003475 rs1472514198 |
2632 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 2635 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1322785 | 2637 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391003635 rs1336516693 |
2642 | R>T | No |
ClinGen gnomAD |
|
| COSM697063 | 2643 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391003651 rs1332178277 |
2643 | R>P | No |
ClinGen gnomAD |
|
|
CA391003714 rs1288886820 |
2648 | V>M | No |
ClinGen gnomAD |
|
|
rs1240479409 CA391003749 |
2651 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 2652 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391003775 rs1208612980 |
2653 | V>L | No |
ClinGen TOPMed |
|
|
CA7352911 rs367991209 |
2661 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1212521257 CA391003891 |
2661 | L>W | No |
ClinGen gnomAD |
|
|
CA7352914 rs760737536 |
2673 | K>R | No |
ClinGen ExAC |
|
|
rs1595617885 CA391004016 |
2676 | T>P | No |
ClinGen Ensembl |
|
|
CA391004042 rs1595617892 |
2679 | V>G | No |
ClinGen Ensembl |
|
|
rs1479753756 CA391004072 |
2683 | I>L | No |
ClinGen gnomAD |
|
|
CA266953589 rs767469923 CA266953587 |
2686 | M>L | No |
ClinGen TOPMed gnomAD |
|
| COSM953475 | 2688 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs774259755 CA7352931 |
2693 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7352932 rs761683655 |
2694 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000995254 CA391004281 rs1387895396 |
2694 | R>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7352934 rs776652737 |
2701 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2705 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2706 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3493869 | 2710 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs765359154 CA7352936 |
2714 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2716 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2719 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391004598 rs1268218281 |
2722 | P>A | No |
ClinGen gnomAD |
|
|
rs1364651047 CA391004605 |
2723 | L>F | No |
ClinGen gnomAD |
|
|
rs764493120 CA7352939 |
2724 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1300180362 CA391004617 |
2725 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 2731 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774753241 CA7352975 |
2735 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391005342 rs1342350207 |
2737 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 2738 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595618645 CA391005358 |
2738 | Y>S | No |
ClinGen Ensembl |
|
|
CA266954863 rs1025226244 |
2740 | G>A | No |
ClinGen TOPMed |
|
|
rs145876293 CA7352979 |
2744 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7352981 rs372377150 |
2749 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10584468 rs879253915 RCV000235432 |
2752 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs764842403 CA7352983 |
2753 | R>H | No |
ClinGen ExAC gnomAD |
|
| COSM953479 | 2754 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs757167931 CA7352988 |
2763 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7352989 rs781036111 |
2764 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7352993 rs748320904 |
2776 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs772426649 CA7352994 |
2779 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974534325 CA266955012 |
2780 | S>T | No |
ClinGen TOPMed |
|
|
CA7353014 rs772290316 |
2787 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs190094426 CA7353015 |
2791 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391006453 rs1289007117 |
2792 | Y>C | No |
ClinGen TOPMed |
|
|
CA391006466 rs1353711965 |
2793 | I>V | No |
ClinGen TOPMed |
|
|
CA7353019 rs759983101 |
2809 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774929269 RCV000761896 CA7353021 |
2811 | R>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA391006759 rs1275034460 |
2815 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs546021069 CA266956460 |
2815 | T>P | No |
ClinGen Ensembl |
|
|
rs1451451314 CA391006842 |
2822 | I>M | No |
ClinGen TOPMed |
|
|
CA391006834 rs1207919534 |
2822 | I>V | No |
ClinGen gnomAD |
|
|
rs1034689180 CA266956465 |
2823 | R>Q | No |
ClinGen TOPMed |
|
|
rs1248835520 CA391006845 |
2823 | R>W | No |
ClinGen TOPMed gnomAD |
|
| COSM953480 | 2831 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391006994 rs1375241221 |
2838 | V>I | No |
ClinGen gnomAD |
|
|
rs1185425190 CA391007006 |
2839 | E>D | No |
ClinGen TOPMed |
|
|
rs751668595 CA7353050 |
2844 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3493873 | 2850 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs780522040 CA391007089 |
2851 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391007097 RCV000995255 rs1595620859 |
2852 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778246294 CA7353058 RCV001264656 CA266958754 |
2858 | F>L | No |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
|
rs1273252656 CA391007145 |
2859 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs139461837 CA7353060 |
2862 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773039767 CA7353061 |
2863 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7353062 rs374570936 |
2864 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770910961 CA7353063 |
2867 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA391007197 rs1425847473 |
2867 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391007196 rs1425847473 |
2867 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776582823 CA7353064 |
2869 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760845688 CA7353097 |
2880 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1388106443 CA391008633 |
2880 | D>N | No |
ClinGen gnomAD |
|
| COSM78933 | 2889 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2891 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285270824 CA391008868 |
2893 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs890305364 CA266961813 |
2898 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 2907 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391009299 rs1595622920 |
2917 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 2920 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746552692 CA7353105 |
2921 | R>K | No |
ClinGen ExAC gnomAD |
|
| COSM2262252 | 2927 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs764724223 CA7353121 COSM4679792 |
2927 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs764724223 CA391009653 |
2927 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162461328 CA391009662 |
2928 | Q>* | No |
ClinGen TOPMed |
|
|
CA391009666 rs1460737313 |
2928 | Q>L | No |
ClinGen TOPMed |
|
| COSM4049149 | 2933 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3493874 | 2948 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000236413 rs780690762 CA7353124 COSM199830 |
2948 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA391010042 rs1555410900 |
2950 | V>A | No |
ClinGen Ensembl |
|
|
rs1321995457 COSM5470205 CA391010034 |
2950 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM1322784 | 2951 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs755723273 CA391010126 |
2954 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391010140 rs1303779307 |
2955 | G>S | No |
ClinGen gnomAD |
|
|
CA266962211 rs370592448 |
2957 | S>N | No |
ClinGen Ensembl |
|
| COSM4049150 | 2977 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM552217 | 2980 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA266962342 rs759558372 |
2982 | R>C | No |
ClinGen TOPMed |
|
|
rs1463719914 CA391010731 |
2984 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 2989 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM469673 | 2991 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1325458825 CA391010780 |
2991 | A>T | No |
ClinGen gnomAD |
|
| COSM4823396 | 2996 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs754834522 CA7353145 |
3000 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186009471 CA391010861 |
3002 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 3007 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000193691 CA207349 rs797045537 COSM167007 |
3007 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 3017 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879254170 RCV000236837 CA10584469 |
3017 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 3020 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1300392 | 3022 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs768209680 CA266962521 |
3024 | D>G | No |
ClinGen gnomAD |
|
|
rs1032073396 CA266962533 |
3026 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 3029 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391011076 rs1348362707 |
3032 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 3036 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353168 COSM4049152 rs769817685 |
3037 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 3042 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318987217 CA391011178 |
3046 | S>L | No |
ClinGen gnomAD |
|
|
rs762132479 CA7353172 |
3056 | S>G | No |
ClinGen ExAC gnomAD |
|
| COSM4049154 | 3059 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1408182872 CA391011366 |
3060 | R>H | No |
ClinGen gnomAD |
|
|
COSM432681 rs765818743 CA7353176 |
3064 | V>I | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs2048466928 RCV001264617 |
3077 | D>H | No |
ClinVar dbSNP |
|
| COSM4917347 | 3079 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1555410958 CA391011630 RCV000520141 |
3081 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs866111625 CA266962802 |
3095 | G>R | No |
ClinGen Ensembl |
|
|
rs779182108 CA7353205 |
3096 | D>G | No |
ClinGen ExAC |
|
|
CA391013275 rs1239847993 |
3099 | T>S | No |
ClinGen gnomAD |
|
|
rs1421623932 CA391013492 |
3107 | K>R | No |
ClinGen gnomAD |
|
|
RCV000236969 CA10584471 rs879254260 |
3111 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1395404099 CA391013607 |
3111 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 3112 | K>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250148140 CA391013617 |
3112 | K>Q | No |
ClinGen TOPMed |
|
|
CA266962880 rs1046324894 |
3113 | M>L | No |
ClinGen TOPMed |
|
|
CA266962872 rs1046324894 |
3113 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 3114 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353212 rs547968657 |
3121 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 3121 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391013929 rs1567017307 |
3122 | V>M | No |
ClinGen Ensembl |
|
| COSM4049155 | 3127 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs570999828 CA7353215 |
3128 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7353214 rs775083305 |
3128 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA266962918 rs1038533453 |
3132 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 3135 | Q>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000501141 rs1555410999 CA391014425 |
3140 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1365391901 CA391014590 |
3147 | C>Y | No |
ClinGen TOPMed |
|
|
rs1299402565 CA391014674 |
3151 | H>Y | No |
ClinGen TOPMed |
|
|
rs777423061 CA266964100 |
3160 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7353238 rs773154187 |
3160 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs760640376 CA7353239 |
3161 | L>P | No |
ClinGen ExAC |
|
|
CA7353240 rs766369444 |
3164 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM953483 rs1393341368 CA391015271 |
3166 | G>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs764206230 CA7353243 |
3168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1447561147 CA391015369 |
3171 | I>V | No |
ClinGen TOPMed |
|
|
rs1595624277 CA391015384 |
3172 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 3173 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595624286 CA391015655 |
3181 | N>S | No |
ClinGen Ensembl |
|
|
CA391015725 rs1447551753 |
3183 | Y>H | No |
ClinGen gnomAD |
|
|
rs1311056505 CA391015765 |
3185 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1368315 CA391015904 rs1280908648 |
3191 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs377618077 CA266964183 |
3193 | E>D | No |
ClinGen ESP TOPMed |
|
| COSM6075309 | 3196 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs779606268 CA266964186 |
3199 | M>V | No |
ClinGen Ensembl |
|
| COSM1493145 | 3206 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1460582982 CA391016603 |
3219 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868813394 CA266964446 |
3220 | R>H | No |
ClinGen Ensembl |
|
|
CA391016696 rs1487100402 |
3223 | R>S | No |
ClinGen TOPMed |
|
|
CA7353274 rs770822721 |
3224 | I>M | No |
ClinGen ExAC gnomAD |
|
| COSM6075308 | 3228 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000497652 rs1555411143 CA391016788 |
3228 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567017900 CA391016828 |
3231 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 3232 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353276 rs745756120 |
3234 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs745756120 CA391016882 |
3234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199966256 CA391016888 |
3235 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1220860441 CA391016946 |
3238 | D>E | No |
ClinGen TOPMed |
|
|
CA391017109 rs1291221765 |
3246 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| COSM432682 | 3252 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3269 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3272 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255779162 CA391018141 |
3272 | A>V | No |
ClinGen TOPMed |
|
|
rs1199619119 CA391018203 |
3276 | M>K | No |
ClinGen TOPMed |
|
|
rs1461589823 CA391018235 |
3277 | S>N | No |
ClinGen TOPMed |
|
|
rs763556991 CA7353305 |
3277 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3279 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353310 rs750222078 |
3290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA266968467 rs758961846 |
3298 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 3300 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595625505 CA391019844 |
3312 | N>T | No |
ClinGen Ensembl |
|
|
CA391019905 rs1302908758 |
3316 | A>T | No |
ClinGen TOPMed |
|
|
rs781334256 CA7353337 |
3320 | A>T | No |
ClinGen ExAC gnomAD |
|
| COSM3793469 | 3328 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3330 | E>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3336 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM697059 | 3337 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1379488925 CA391020886 |
3341 | I>T | No |
ClinGen TOPMed |
|
|
rs1466597853 CA391020884 |
3341 | I>V | No |
ClinGen TOPMed |
|
|
rs769196812 CA7353342 |
3343 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368045189 CA7353343 |
3352 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA266968565 rs372187488 |
3353 | N>S | No |
ClinGen ESP TOPMed |
|
|
rs772665813 CA391021639 |
3361 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113879661 CA7353363 |
3362 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM953485 | 3365 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1322783 | 3366 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs760226505 CA7353364 |
3372 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3373 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391022132 rs1315518345 |
3378 | N>K | No |
ClinGen TOPMed |
|
|
CA391022146 rs1277036036 |
3379 | Y>N | No |
ClinGen TOPMed |
|
|
CA391022263 rs1281508808 |
3381 | I>M | No |
ClinGen gnomAD |
|
| COSM3419635 | 3384 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391022620 rs1595625927 |
3393 | V>G | No |
ClinGen Ensembl |
|
| COSM1368316 | 3394 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs776331029 CA7353366 |
3397 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391023063 rs1567019118 |
3401 | N>S | No |
ClinGen Ensembl |
|
|
RCV001172078 rs2048531389 |
3405 | M>L | No |
ClinVar dbSNP |
|
| COSM953486 | 3410 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3411 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353383 rs776130043 |
3413 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 3421 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM199836 CA7353387 rs762851661 |
3423 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
| TCGA novel | 3429 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3438 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391024001 rs1595626055 |
3439 | D>A | No |
ClinGen Ensembl |
|
|
CA7353391 rs766521055 |
3439 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755126314 CA266969343 |
3445 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3689941 CA7353394 rs779245575 |
3446 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV000658142 rs1555411398 CA391024405 |
3449 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000521322 CA391024417 rs1555411399 |
3450 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 3471 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6075307 | 3472 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1297544368 CA391025658 |
3486 | R>C | No |
ClinGen gnomAD |
|
|
rs755588046 CA7353419 |
3486 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs201109134 CA391025781 |
3491 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA266970017 rs376065869 |
3492 | T>A | No |
ClinGen ESP |
|
|
rs1234633455 CA391025870 |
3496 | F>C | No |
ClinGen TOPMed |
|
|
rs1185540725 CA391025907 |
3498 | N>T | No |
ClinGen TOPMed |
|
|
CA7353425 rs771891310 |
3504 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391027023 rs1349769503 |
3509 | L>S | No |
ClinGen TOPMed |
|
|
CA391027044 rs1283644221 |
3510 | S>L | No |
ClinGen TOPMed |
|
|
rs1239283124 CA391027089 |
3512 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| COSM3493878 | 3513 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953488 | 3515 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391027208 rs1165122605 |
3517 | A>V | No |
ClinGen gnomAD |
|
|
rs1339434402 CA391027210 |
3518 | G>S | No |
ClinGen TOPMed |
|
|
rs775454182 CA7353428 |
3523 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1361124045 CA391027348 |
3523 | Q>R | No |
ClinGen gnomAD |
|
|
CA391027365 rs1365563528 |
3524 | M>V | No |
ClinGen gnomAD |
|
|
rs1310857467 CA391027472 |
3528 | L>S | No |
ClinGen gnomAD |
|
|
rs1378258320 CA391027519 |
3531 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 3535 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs935024621 CA266970045 |
3537 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391027687 rs1163121657 |
3538 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA391027722 rs1366727912 |
3540 | N>S | No |
ClinGen gnomAD |
|
|
rs1379301487 CA391027906 |
3543 | F>L | No |
ClinGen gnomAD |
|
|
CA7353454 rs761216533 COSM1748693 |
3544 | R>H | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766845861 CA7353455 |
3547 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7353456 rs753385774 |
3550 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3551 | E>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353458 rs752337704 |
3556 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA391028090 rs752337704 |
3556 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758008365 CA7353459 |
3557 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3557 | D>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777583611 COSM953489 CA7353460 |
3559 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| COSM3493879 | 3561 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3562 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353462 rs370154533 |
3563 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7353463 rs547814062 |
3565 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547814062 CA266970406 |
3565 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391028274 rs1194737872 |
3566 | S>F | No |
ClinGen TOPMed |
|
| COSM3885640 | 3572 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4679796 | 3577 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3579 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353464 rs200525912 |
3580 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866994746 COSM953490 CA266970428 |
3582 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA391029644 rs1446944059 |
3598 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 3598 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM953491 | 3599 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA266972283 rs199735285 |
3601 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 3603 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288527198 CA391029751 |
3605 | K>E | No |
ClinGen gnomAD |
|
|
CA7353487 rs773374068 |
3607 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA391029784 COSM5018578 rs1321841274 |
3607 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1223641618 CA391029819 |
3609 | I>M | No |
ClinGen gnomAD |
|
|
rs777156911 CA7353490 |
3612 | T>I | No |
ClinGen ExAC gnomAD |
|
| COSM4049156 | 3613 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3617 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3618 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1300393 | 3620 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3621 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760080222 CA7353491 |
3621 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414585001 COSM5237835 CA391030003 |
3626 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA7353509 rs746283010 |
3638 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1382922601 CA391031316 |
3643 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1333048158 CA391031335 |
3645 | L>M | No |
ClinGen gnomAD |
|
| COSM70553 | 3649 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM697056 | 3650 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7353511 rs763516982 |
3651 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA391031420 rs1306439035 |
3651 | R>S | No |
ClinGen gnomAD |
|
|
rs763451915 CA7353512 |
3654 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3654 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1368320 | 3655 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs761427653 CA7353515 COSM2262278 |
3657 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA391031570 rs1199669093 |
3660 | V>M | No |
ClinGen gnomAD |
|
|
CA266973804 rs953436026 |
3669 | I>V | No |
ClinGen TOPMed |
|
|
rs757529671 CA7353522 |
3674 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| COSM953492 | 3675 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391031913 rs1470749260 |
3676 | V>I | No |
ClinGen gnomAD |
|
|
rs1555411755 RCV000499395 CA391032065 |
3682 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7353525 rs770214032 |
3682 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266973853 rs267603883 |
3684 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| rs1363138805 | 3686 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353541 rs757475625 |
3686 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs543319257 CA7353542 |
3687 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM4402925 | 3692 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391032349 rs1555411772 RCV000521801 |
3696 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA391032355 rs1595629344 |
3696 | V>G | No |
ClinGen Ensembl |
|
|
CA7353544 rs756379552 |
3705 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs977079015 CA266973963 |
3705 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA391032551 rs1270123444 |
3711 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 3723 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264422999 CA391032680 |
3724 | V>M | No |
ClinGen gnomAD |
|
|
CA266973982 rs797045529 |
3728 | R>Q | No |
ClinGen TOPMed |
|
|
rs771514326 CA7353550 |
3735 | Q>H | No |
ClinGen ExAC gnomAD |
|
| COSM697055 | 3737 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM697054 | 3739 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391032990 rs1360902238 |
3743 | R>H | No |
ClinGen gnomAD |
|
|
CA7353563 rs756271644 |
3747 | K>R | No |
ClinGen ExAC |
|
| TCGA novel | 3748 | S>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000501525 rs1555411787 CA391033061 |
3749 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 3750 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353564 rs780384517 |
3751 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3758 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391033187 rs1410110655 |
3759 | R>C | No |
ClinGen TOPMed |
|
| COSM5460666 | 3759 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7353566 rs777581372 |
3765 | T>M | No |
ClinGen ExAC gnomAD |
|
| COSM953496 | 3773 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1128333 | 3774 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs75855880 CA266974196 |
3780 | V>G | No |
ClinGen Ensembl |
|
|
CA391033530 rs1482714496 |
3784 | V>I | No |
ClinGen gnomAD |
|
|
rs745508003 CA7353574 |
3785 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA266974205 rs997706398 |
3787 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs762940668 CA7353577 |
3792 | Q>K | No |
ClinGen ExAC gnomAD |
|
| COSM953497 | 3795 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs528149981 CA7353578 |
3795 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391033676 rs1309336867 |
3796 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 3796 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309336867 CA391033675 |
3796 | T>P | No |
ClinGen TOPMed |
|
|
rs760876077 CA7353580 |
3797 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 3799 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391033755 rs1339000930 |
3800 | Q>R | No |
ClinGen gnomAD |
|
|
CA391033808 rs1595629593 |
3802 | L>P | No |
ClinGen Ensembl |
|
|
CA266974245 rs571126286 |
3803 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571126286 CA391033824 |
3803 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA266974253 rs201692735 |
3805 | S>P | No |
ClinGen Ensembl |
|
|
rs778307172 CA7353587 |
3809 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759668340 CA7353625 |
3821 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA391034327 rs1270434499 |
3822 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 3823 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353628 rs763172229 |
3825 | Y>H | No |
ClinGen ExAC gnomAD |
|
| COSM4049158 | 3827 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000502960 CA391034450 rs1425329166 |
3831 | F>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA7353630 rs148513391 |
3835 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391034556 rs1216705331 |
3839 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| COSM70554 | 3841 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs749946187 CA7353633 COSM1172186 |
3844 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA391034622 rs1218485865 |
3844 | P>S | No |
ClinGen gnomAD |
|
|
CA7353637 rs754712755 |
3848 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753496239 CA7353636 |
3848 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs754712755 CA7353638 |
3848 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266974697 rs943487161 |
3849 | V>I | No |
ClinGen gnomAD |
|
| COSM4049159 | 3850 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs747944264 CA7353639 |
3850 | T>N | No |
ClinGen ExAC TOPMed |
|
|
CA391034690 rs1401684233 |
3851 | D>N | No |
ClinGen gnomAD |
|
|
rs777634435 CA7353641 |
3853 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000761897 rs1567021411 CA391034722 |
3853 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769803487 CA7353643 |
3854 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs763121294 CA7353645 |
3855 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA391034764 rs768800353 |
3858 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7353646 rs768800353 |
3858 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774754180 CA7353647 |
3859 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA266974760 rs971123586 |
3860 | T>A | No |
ClinGen TOPMed |
|
|
rs370974731 CA7353648 |
3861 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370974731 CA7353649 |
3861 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1595629871 CA391034806 |
3862 | D>A | No |
ClinGen Ensembl |
|
|
CA7353651 rs761286942 |
3864 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA391034823 rs1567021445 |
3864 | F>L | No |
ClinGen Ensembl |
|
|
CA7353679 rs757163052 COSM4049160 |
3867 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 3871 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745812006 CA7353682 |
3873 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1262187792 CA391034989 |
3876 | L>V | No |
ClinGen TOPMed |
|
|
rs144177631 CA266974961 |
3878 | Q>H | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 3882 | T>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391035230 rs1329096166 |
3891 | K>E | No |
ClinGen gnomAD |
|
|
rs773694254 CA7353686 |
3894 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1326124955 CA391035285 |
3895 | T>A | No |
ClinGen TOPMed |
|
| COSM3814265 | 3896 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs567629350 CA7353689 |
3896 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA266976976 rs751618300 |
3899 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 3901 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA266976988 VAR_020889 rs17512818 |
3902 | D>N | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA266976998 rs1044452799 |
3903 | A>V | No |
ClinGen Ensembl |
|
|
rs1194676358 CA391036452 |
3904 | E>Q | No |
ClinGen gnomAD |
|
|
rs1366270188 CA391036486 |
3907 | H>N | No |
ClinGen gnomAD |
|
|
CA207106 RCV000193548 RCV001547778 rs774840535 |
3907 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7353712 rs762581002 |
3910 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7353713 COSM1629212 rs768291996 |
3914 | I>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs141469535 CA7353715 |
3917 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391036620 rs1332271433 |
3919 | G>R | No |
ClinGen gnomAD |
|
|
rs1382179095 CA391036636 |
3920 | S>F | No |
ClinGen gnomAD |
|
|
CA7353716 rs767259550 |
3921 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA391036645 rs767259550 |
3921 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA391036654 rs1288938461 |
3922 | P>S | No |
ClinGen TOPMed |
|
|
CA266977056 rs1054765176 |
3924 | I>N | No |
ClinGen TOPMed |
|
|
rs771773704 CA266977059 |
3925 | Q>E | No |
ClinGen Ensembl |
|
|
CA391036762 rs1201789387 |
3928 | T>P | No |
ClinGen Ensembl |
|
|
RCV001310726 rs2048632306 |
3929 | V>missing | No |
ClinVar dbSNP |
|
|
CA391036805 rs1361726688 |
3931 | Q>K | No |
ClinGen TOPMed |
|
|
COSM1368322 CA7353720 rs752716582 |
3932 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA391036853 rs751780173 |
3934 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778010675 CA7353722 |
3934 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1595630552 CA391036878 |
3935 | V>G | No |
ClinGen Ensembl |
|
|
CA391036865 rs770188348 |
3935 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595630557 CA391036891 |
3936 | V>G | No |
ClinGen Ensembl |
|
|
CA391036936 rs1186944265 |
3939 | S>T | No |
ClinGen TOPMed |
|
|
rs187563446 CA7353731 |
3941 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771764035 CA7353734 |
3942 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771764035 CA7353733 |
3942 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7353738 rs759566577 |
3943 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7353737 rs753748839 |
3943 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391036999 rs759566577 |
3943 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7353739 rs764225518 |
3945 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1306609313 CA391037060 |
3949 | A>T | No |
ClinGen TOPMed |
|
|
rs751725085 CA7353740 |
3950 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA391037091 rs1595630595 |
3951 | V>G | No |
ClinGen Ensembl |
|
| COSM4049162 | 3952 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391037115 rs1319152853 |
3953 | A>V | No |
ClinGen gnomAD |
|
|
CA391037119 rs1567021835 |
3954 | D>H | No |
ClinGen Ensembl |
|
|
rs755467279 CA7353765 |
3956 | Q>* | No |
ClinGen ExAC gnomAD |
|
| COSM953499 | 3957 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1420012349 CA391037197 |
3958 | G>S | No |
ClinGen gnomAD |
|
|
CA391037253 rs1466474771 |
3963 | S>G | No |
ClinGen TOPMed |
|
|
rs757869882 CA391037273 |
3964 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391037285 rs1595630803 RCV000991929 |
3965 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000235365 rs879254021 CA10584474 |
3966 | P>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA7353770 rs746630656 |
3967 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA391037357 rs1567021935 |
3971 | P>L | No |
ClinGen Ensembl |
|
|
rs1366626883 CA391037401 |
3975 | S>N | No |
ClinGen gnomAD |
|
|
CA391037410 rs1459731964 |
3976 | E>Q | No |
ClinGen TOPMed |
|
|
rs1262882387 CA391037439 |
3978 | T>S | No |
ClinGen TOPMed |
|
|
rs756652501 CA7353774 |
3980 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3981 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775499797 CA7353775 |
3981 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200449441 CA7353796 |
3982 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216829534 CA391037538 |
3982 | P>S | No |
ClinGen gnomAD |
|
|
CA391037557 rs1369927772 |
3984 | G>R | No |
ClinGen TOPMed |
|
|
CA266978321 rs893293077 |
3986 | A>T | No |
ClinGen Ensembl |
|
|
rs1460055545 CA391037592 |
3988 | H>N | No |
ClinGen gnomAD |
|
|
rs1460055545 CA391037594 |
3988 | H>Y | No |
ClinGen gnomAD |
|
|
CA7353797 rs142701168 |
3989 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7353798 rs377516509 |
3989 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 3996 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391037684 rs1157186575 |
3997 | R>Q | No |
ClinGen gnomAD |
|
|
rs879254105 RCV000236555 CA10584475 |
3999 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1407764077 CA391037712 |
4000 | R>C | No |
ClinGen gnomAD |
|
| COSM953500 | 4001 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 4003 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159403427 CA391037746 |
4003 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7353802 rs569052480 |
4005 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7353804 rs753097294 |
4007 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs765542840 CA7353803 |
4007 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763492318 CA7353805 |
4008 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7353807 rs751075435 |
4012 | N>H | No |
ClinGen ExAC |
|
|
CA391037837 rs1595631413 |
4012 | N>T | No |
ClinGen Ensembl |
|
|
CA7353808 rs756653612 |
4013 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7353809 rs780863505 |
4014 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1203128797 CA391037873 |
4015 | E>D | No |
ClinGen gnomAD |
|
|
rs370026529 CA391037882 |
4016 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs946854191 CA266978406 |
4018 | M>V | No |
ClinGen TOPMed |
|
|
rs1595631437 CA391037949 |
4021 | M>R | No |
ClinGen Ensembl |
|
|
CA391037977 rs1255934407 |
4023 | Q>H | No |
ClinGen TOPMed |
|
|
rs905443465 CA266978419 |
4023 | Q>L | No |
ClinGen TOPMed |
|
|
rs879254308 RCV000236751 CA10584476 |
4024 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7353814 rs768636289 |
4026 | D>N | No |
ClinGen ExAC gnomAD |
|
| COSM400505 | 4026 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1305012458 CA391038031 |
4027 | L>M | No |
ClinGen TOPMed |
|
|
rs1413726053 CA391038047 |
4028 | T>A | No |
ClinGen gnomAD |
|
| COSM3885642 | 4029 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391038138 rs1406226969 |
4032 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs967831620 CA266978435 |
4032 | G>R | No |
ClinGen Ensembl |
|
|
CA391038141 rs1406226969 |
4032 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770952640 CA7353816 |
4033 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775507314 CA7353837 |
4035 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774809334 CA7353840 |
4039 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA391038354 rs1303921661 |
4039 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 4041 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353842 rs768196646 |
4048 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7353844 rs760197091 |
4054 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7353845 rs143757179 |
4055 | V>I | No |
ClinGen ESP ExAC |
|
|
CA205535 rs797045530 RCV000192606 |
4061 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs144124371 CA7353848 |
4062 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333350891 CA391038825 |
4064 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 4065 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777752281 CA7353851 |
4065 | Q>H | No |
ClinGen ExAC gnomAD |
|
| COSM1322782 | 4067 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6075305 | 4068 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3968674 | 4069 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs746950373 COSM3885643 |
4071 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| COSM4791903 | 4073 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391039043 rs1567022547 |
4076 | G>V | No |
ClinGen Ensembl |
|
|
rs1567022551 CA616580582 |
4082 | K>L | No |
ClinGen Ensembl |
|
|
CA391039143 rs1333412604 |
4083 | A>T | No |
ClinGen gnomAD |
|
|
rs1394701012 CA391040354 |
4087 | A>S | No |
ClinGen gnomAD |
|
|
rs1394701012 CA391040352 |
4087 | A>T | No |
ClinGen gnomAD |
|
|
rs1278705600 CA391040419 |
4090 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| COSM3689942 | 4096 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3689943 | 4109 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391040948 rs1295680026 |
4112 | K>N | No |
ClinGen TOPMed |
|
|
CA7353902 rs768347139 |
4112 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA391040985 rs1220449162 |
4116 | L>Q | No |
ClinGen gnomAD |
|
|
CA7353904 rs377620179 |
4117 | Q>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs970531550 CA266979239 |
4118 | P>A | No |
ClinGen Ensembl |
|
|
rs772596250 CA266979266 |
4119 | H>L | No |
ClinGen Ensembl |
|
|
CA7353907 rs139284699 |
4119 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM953501 | 4123 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391041123 rs1404569324 |
4128 | M>V | No |
ClinGen TOPMed |
|
|
rs112050355 CA266979267 |
4133 | K>Q | No |
ClinGen Ensembl |
|
|
rs1229650037 CA391041304 |
4136 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 4139 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764278958 CA7353929 |
4140 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770451110 CA266979472 |
4140 | R>H | No |
ClinGen gnomAD |
|
|
COSM953502 VAR_069440 CA391041384 rs1316357429 |
4143 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000501407 CA266979483 rs867634752 |
4143 | R>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA391041443 rs1460347715 |
4148 | E>K | No |
ClinGen gnomAD |
|
| COSM3493884 | 4150 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391041623 rs1463499518 |
4160 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| COSM3814267 | 4164 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391041692 rs1174819123 |
4165 | P>S | No |
ClinGen TOPMed |
|
|
CA391041732 rs1468120172 COSM3369896 |
4168 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs892276941 CA266979551 |
4168 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs771674356 CA391041776 |
4171 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771674356 CA7353940 |
4171 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 4172 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353967 rs772206416 |
4174 | N>S | No |
ClinGen ExAC gnomAD |
|
| COSM697052 | 4175 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM953503 | 4176 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs773258825 CA7353968 |
4177 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166113560 CA391041951 |
4177 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 4178 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203917028 CA391042182 |
4189 | I>N | No |
ClinGen gnomAD |
|
|
rs757793470 CA7353975 |
4194 | L>S | No |
ClinGen ExAC gnomAD |
|
| COSM1368325 | 4201 | W>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1290127731 CA391042346 |
4202 | S>T | No |
ClinGen gnomAD |
|
|
rs756074780 CA7353981 |
4204 | K>N | No |
ClinGen ExAC |
|
| TCGA novel | 4209 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM953504 | 4213 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1368326 | 4213 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391042533 rs1452868593 |
4215 | A>G | No |
ClinGen gnomAD |
|
|
rs1463492844 CA391042554 |
4217 | D>N | No |
ClinGen TOPMed |
|
|
rs773319640 CA7353985 |
4218 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA266980648 rs1006275897 |
4221 | T>M | No |
ClinGen Ensembl |
|
|
rs1383201522 CA391042637 |
4222 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 4222 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7353988 rs776972173 |
4226 | T>M | No |
ClinGen ExAC |
|
|
COSM6075304 rs994411940 |
4229 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| COSM3361067 | 4229 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391042839 rs1230082306 |
4231 | Q>K | No |
ClinGen gnomAD |
|
|
CA391042874 rs1486511807 |
4233 | I>V | No |
ClinGen gnomAD |
|
|
rs926098587 CA266980979 |
4234 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 4235 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595633309 CA391042898 |
4236 | D>G | No |
ClinGen Ensembl |
|
|
rs754865373 CA7354023 |
4240 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1012807291 COSM4921746 CA266981041 |
4248 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA391043757 rs757275255 |
4249 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467036408 CA391043789 |
4251 | I>L | No |
ClinGen gnomAD |
|
|
rs770105370 CA391043840 |
4255 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1307030683 CA391043841 |
4255 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7354032 rs376420321 |
4256 | V>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA7354031 rs376420321 |
4256 | V>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA266981068 rs949276295 |
4257 | D>G | No |
ClinGen Ensembl |
|
| COSM1300394 | 4257 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1595633382 CA391043920 |
4261 | D>A | No |
ClinGen Ensembl |
|
|
rs1047356934 CA266981095 |
4266 | N>D | No |
ClinGen TOPMed |
|
|
rs1484194546 CA391043991 |
4267 | T>A | No |
ClinGen gnomAD |
|
|
rs1043455 CA266981110 |
4267 | T>I | No |
ClinGen Ensembl |
|
|
rs573730260 CA266981125 |
4271 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1434208432 CA391044038 |
4271 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA391044058 rs1371632535 |
4273 | F>L | No |
ClinGen gnomAD |
|
|
rs975959267 CA266981165 |
4275 | T>I | No |
ClinGen gnomAD |
|
|
CA7354042 rs551349885 |
4275 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391044081 rs1363506540 |
4276 | R>G | No |
ClinGen gnomAD |
|
|
rs142900209 CA7354045 |
4279 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1303329380 CA391044135 |
4280 | S>R | No |
ClinGen gnomAD |
|
|
rs756288179 CA7354046 |
4282 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs749486351 RCV000236877 CA10584478 VAR_069441 |
4285 | A>S | No |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
|
CA7354048 rs749486351 |
4285 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA266981228 rs908965270 |
4285 | A>V | No |
ClinGen Ensembl |
|
|
CA391044195 rs1219670708 |
4286 | C>R | No |
ClinGen gnomAD |
|
|
COSM1300395 CA7354049 rs368476290 |
4289 | D>N | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1580839 CA7354053 rs772591144 |
4295 | Q>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs998265653 CA266981236 |
4295 | Q>R | No |
ClinGen TOPMed |
|
|
rs1392473036 CA391044305 |
4296 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 4304 | E>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230290054 CA391044521 |
4313 | P>S | No |
ClinGen gnomAD |
|
|
rs1353447923 CA391044540 |
4314 | D>E | No |
ClinGen TOPMed |
|
|
rs758156822 CA266981529 |
4327 | A>T | No |
ClinGen Ensembl |
|
|
CA391044682 rs1270150920 |
4328 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7354090 rs758784043 |
4335 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1274421450 CA391045569 |
4336 | G>A | No |
ClinGen gnomAD |
|
|
rs778025706 CA7354091 |
4336 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748908578 CA7354129 |
4337 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7354130 rs768250649 |
4338 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7354133 rs771912291 |
4342 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA391045811 rs1595636086 |
4350 | E>D | No |
ClinGen Ensembl |
|
|
rs1449580462 CA391045880 |
4354 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs769959461 CA7354136 |
4355 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA391045906 rs1404824156 |
4356 | A>P | No |
ClinGen gnomAD |
|
|
CA391045914 rs1324356853 |
4356 | A>V | No |
ClinGen gnomAD |
|
|
CA391045923 rs1237099368 |
4357 | Y>C | No |
ClinGen TOPMed |
|
|
rs1253900818 CA391045945 |
4359 | E>V | No |
ClinGen TOPMed |
|
|
rs1281342842 CA391045979 |
4362 | K>E | No |
ClinGen TOPMed |
|
|
CA7354142 rs750890352 |
4364 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA266985091 rs750890352 |
4364 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1013881762 CA266985115 |
4365 | R>T | No |
ClinGen TOPMed |
|
|
CA7354144 rs779525425 |
4368 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391046140 rs1446933049 |
4369 | T>A | No |
ClinGen TOPMed |
|
|
rs1417841744 CA391046172 |
4370 | S>P | No |
ClinGen TOPMed |
|
|
CA7354147 rs778370920 |
4371 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA391046218 rs1195128714 |
4372 | G>R | No |
ClinGen gnomAD |
|
|
rs995509621 CA266985166 |
4373 | R>C | No |
ClinGen TOPMed |
|
|
CA391046265 rs1472613465 |
4375 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 4376 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771721565 CA7354149 |
4377 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3401120 CA391046313 rs1567025256 |
4378 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs777747436 CA7354150 |
4378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771053958 CA7354152 |
4382 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7354153 rs775712157 |
4382 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391046418 rs775712157 |
4382 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1488228351 CA391046449 |
4385 | S>T | No |
ClinGen TOPMed |
|
|
rs201575292 CA266985264 |
4386 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267408651 CA391046522 |
4387 | W>* | No |
ClinGen gnomAD |
|
|
rs138618346 CA7354159 CA266985274 |
4387 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1180039826 CA391046584 |
4391 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA391046619 rs910411090 |
4393 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA266985295 rs910411090 |
4393 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10584480 rs879253906 RCV000235700 |
4399 | K>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA10584481 RCV000236617 rs879254217 |
4400 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA266985347 rs977186240 |
4402 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1313121695 CA391046835 |
4406 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 4407 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7354189 rs756128189 |
4408 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA391047777 rs1273421053 COSM953506 |
4412 | F>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs2048758625 RCV001091162 |
4413 | F>I | No |
ClinVar dbSNP |
|
|
CA266987940 rs772150327 |
4414 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266987946 rs1053380753 |
4419 | M>T | No |
ClinGen Ensembl |
|
|
rs376492799 CA7354194 |
4421 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391048015 rs1291353621 |
4422 | K>N | No |
ClinGen gnomAD |
|
|
rs1364644418 CA391048070 |
4425 | Q>E | No |
ClinGen TOPMed |
|
|
CA7354197 rs573728571 |
4427 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770395590 CA7354199 |
4428 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762496944 CA7354200 |
4428 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA391048120 rs763724110 |
4429 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749297332 CA391048185 |
4433 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391048224 rs1469263725 |
4435 | V>A | No |
ClinGen gnomAD |
|
|
CA391048274 rs750291750 |
4438 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391048270 rs1170815274 |
4438 | C>Y | No |
ClinGen TOPMed |
|
| COSM432683 | 4439 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7354208 rs753794752 |
4443 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429972858 CA391048417 |
4447 | Y>C | No |
ClinGen gnomAD |
|
|
rs770069992 CA7354215 |
4457 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7354237 rs747634585 |
4466 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431567490 CA391049005 |
4466 | H>Y | No |
ClinGen TOPMed |
|
|
rs771502731 CA7354238 |
4467 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA266989001 rs899591600 |
4468 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7354241 rs150906249 |
4470 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM3493885 | 4471 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs868026347 CA266989028 |
4472 | G>D | No |
ClinGen gnomAD |
|
|
CA391049115 rs868026347 |
4472 | G>V | No |
ClinGen gnomAD |
|
|
rs759462206 CA7354243 |
4473 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA391049243 rs1395483626 |
4477 | Q>H | No |
ClinGen gnomAD |
|
|
rs1467713246 CA391049346 |
4483 | S>N | No |
ClinGen TOPMed |
|
|
CA7354248 rs756341245 |
4487 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA391049415 rs1253254452 |
4487 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 4489 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780553042 CA391049445 |
4490 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 4491 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595637487 CA391049472 |
4493 | S>P | No |
ClinGen Ensembl |
|
|
rs985820560 CA266989056 |
4497 | A>T | No |
ClinGen Ensembl |
|
|
rs1272908678 CA391049562 |
4499 | G>V | No |
ClinGen TOPMed |
|
|
CA391049598 rs1341526440 |
4501 | A>T | No |
ClinGen TOPMed |
|
|
CA266989060 rs369167656 |
4502 | K>E | No |
ClinGen ESP |
|
|
rs369167656 CA391049610 |
4502 | K>Q | No |
ClinGen ESP |
|
| VAR_069443 | 4507 | I>S | No | UniProt | |
|
CA391049937 rs1235761850 |
4508 | H>Y | No |
ClinGen gnomAD |
|
|
rs888890361 CA391049991 |
4510 | C>F | No |
ClinGen TOPMed |
|
|
CA266989330 rs888890361 |
4510 | C>S | No |
ClinGen TOPMed |
|
|
CA391050018 rs1595637674 |
4511 | L>R | No |
ClinGen Ensembl |
|
|
CA391050084 rs754081062 |
4515 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA391050086 rs1158295938 |
4516 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4518 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276160719 CA391050202 |
4520 | Y>C | No |
ClinGen gnomAD |
|
|
RCV001172079 rs2048779147 |
4522 | T>A | No |
ClinVar dbSNP |
|
| TCGA novel | 4532 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3814268 | 4532 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 4533 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357269687 CA391050490 |
4538 | E>A | No |
ClinGen gnomAD |
|
|
rs1567026170 CA391050518 |
4540 | C>Y | No |
ClinGen Ensembl |
|
|
rs1259892532 CA391050563 |
4542 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs544426507 CA7354292 |
4543 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756718161 CA7354293 |
4544 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs963048075 CA266989399 |
4545 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs377323091 CA7354294 |
4548 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391050662 rs1224118030 |
4549 | Q>E | No |
ClinGen TOPMed |
|
| COSM1204757 | 4552 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA266989436 rs997929938 |
4553 | L>F | No |
ClinGen TOPMed |
|
|
rs375286762 CA266989442 |
4555 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs1567026221 CA391050835 |
4555 | A>V | No |
ClinGen Ensembl |
|
| COSM953508 | 4558 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 4563 | L>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 4564 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391051301 rs1469174194 |
4566 | Q>E | No |
ClinGen gnomAD |
|
|
rs1007361669 CA266989878 |
4569 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 4577 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391051693 rs1441321381 |
4579 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA391051710 rs1391180102 |
4579 | N>S | No |
ClinGen TOPMed |
|
| COSM6139928 | 4580 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1310446969 CA391051768 |
4581 | I>M | No |
ClinGen TOPMed |
|
|
rs1327747226 CA391051750 |
4581 | I>V | No |
ClinGen gnomAD |
|
|
rs1360114030 CA391051810 |
4583 | T>S | No |
ClinGen gnomAD |
|
|
rs544608488 CA7354347 |
4584 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7354349 rs374235890 |
4584 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7354350 rs768994097 |
4585 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA391051837 rs768994097 |
4585 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA266989969 rs951746546 |
4586 | P>A | No |
ClinGen Ensembl |
|
|
rs200971499 CA7354351 |
4588 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750566844 CA266990001 |
4593 | V>I | No |
ClinGen Ensembl |
|
|
rs761291846 CA7354355 |
4597 | N>D | No |
ClinGen ExAC gnomAD |
|
| COSM3793470 | 4599 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7354358 rs758972677 |
4601 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166575456 CA391052222 |
4601 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4602 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_069444 | 4603 | S>G | No | UniProt | |
|
rs752419424 CA7354360 |
4603 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs777749552 CA7354362 |
4604 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1212198619 CA391052267 |
4605 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 4609 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7354382 rs751439366 |
4614 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1485723453 CA391052334 |
4615 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391052351 rs1231105227 |
4617 | D>E | No |
ClinGen gnomAD |
|
|
rs1177514789 CA391052361 |
4619 | I>T | No |
ClinGen gnomAD |
|
|
CA7354383 rs757007288 |
4622 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4623 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391052439 rs375918532 CA266990426 |
4624 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 4624 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7354388 rs748354451 |
4626 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772344432 CA7354389 |
4627 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1333704330 CA391052498 |
4629 | K>Q | No |
ClinGen gnomAD |
|
|
rs910511556 CA266990458 |
4630 | E>K | No |
ClinGen Ensembl |
|
|
rs1302206599 CA391052563 |
4632 | P>R | No |
ClinGen gnomAD |
|
|
CA7354390 rs777859033 |
4632 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA391052575 rs1595638424 |
4633 | R>C | No |
ClinGen Ensembl |
|
|
CA7354391 rs566253677 |
4633 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771222506 CA7354392 |
4634 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA391052625 rs1270293412 |
4635 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391052655 rs1239720681 |
4637 | E>G | No |
ClinGen gnomAD |
|
|
rs746415747 CA7354394 |
4637 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166749863 CA391052713 |
4641 | A>G | No |
ClinGen TOPMed |
|
|
rs762692352 CA7354397 |
4641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1449607821 CA703188821 |
4647 | E>L | No |
ClinGen TOPMed |
3 associated diseases with Q14204
[MIM: 614228]: Charcot-Marie-Tooth disease, axonal, 2O (CMT2O)
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
[MIM: 614563]: Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13)
An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development. Some patients show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. CDCBM13 is associated with variable neuronal migration defects resulting in cortical malformations. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 158600]: Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1)
A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
- An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development. Some patients show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. CDCBM13 is associated with variable neuronal migration defects resulting in cortical malformations. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q14204
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14204 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR46532 | MALE FERTILITY FACTOR KL5 |
| PANTHER Subfamily | PTHR46532:SF13 | DYNEIN CYTOPLASMIC 1 HEAVY CHAIN 1 |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasmic dynein complex | Any dynein complex with a homodimeric dynein heavy chain core that catalyzes movement along a microtubule. Cytoplasmic dynein complexes participate in many cytoplasmic transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Some complexes participate in intraflagellar transport. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes, and may include light chains and light intermediate chains. |
| cytoplasmic microtubule | Any microtubule in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dynein complex | Any of several large complexes that contain two or three dynein heavy chains and several light chains, and have microtubule motor activity. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| dynein intermediate chain binding | Binding to an intermediate chain of the dynein complex. |
| dynein light intermediate chain binding | Binding to a light intermediate chain of the dynein complex. |
| minus-end-directed microtubule motor activity | A motor activity that generates movement along a microtubule toward the minus end, driven by ATP hydrolysis. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cytoplasmic microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell. |
| establishment of spindle localization | The directed movement of the spindle to a specific location in the cell. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| nuclear migration | The directed movement of the nucleus to a specific location within a cell. |
| P-body assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a cytoplasmic mRNA processing body. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of intracellular transport | Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. |
| positive regulation of spindle assembly | Any process that activates or increases the frequency, rate or extent of spindle assembly. |
| regulation of metaphase plate congression | Any process that modulates the rate, frequency, or extent of metaphase plate congression, the alignment of chromosomes at the metaphase plate, a plane halfway between the poles of the spindle. |
| regulation of mitotic spindle organization | Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| retrograde axonal transport | The directed movement of organelles or molecules along microtubules from the cell periphery toward the cell body in nerve cell axons. |
| stress granule assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a stress granule. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P36022 | DYN1 | Dynein heavy chain, cytoplasmic | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | EV |
| P37276 | Dhc64C | Dynein heavy chain, cytoplasmic | Drosophila melanogaster (Fruit fly) | SS |
| Q9JHU4 | Dync1h1 | Cytoplasmic dynein 1 heavy chain 1 | Mus musculus (Mouse) | SS |
| P38650 | Dync1h1 | Cytoplasmic dynein 1 heavy chain 1 | Rattus norvegicus (Rat) | SS |
| Q19020 | dhc-1 | Dynein heavy chain, cytoplasmic | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSEPGGGGGE | DGSAGLEVSA | VQNVADVSVL | QKHLRKLVPL | LLEDGGEAPA | ALEAALEEKS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALEQMRKFLS | DPQVHTVLVE | RSTLKEDVGD | EGEEEKEFIS | YNINIDIHYG | VKSNSLAFIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RTPVIDADKP | VSSQLRVLTL | SEDSPYETLH | SFISNAVAPF | FKSYIRESGK | ADRDGDKMAP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVEKKIAELE | MGLLHLQQNI | EIPEISLPIH | PMITNVAKQC | YERGEKPKVT | DFGDKVEDPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLNQLQSGVN | RWIREIQKVT | KLDRDPASGT | ALQEISFWLN | LERALYRIQE | KRESPEVLLT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDILKHGKRF | HATVSFDTDT | GLKQALETVN | DYNPLMKDFP | LNDLLSATEL | DKIRQALVAI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FTHLRKIRNT | KYPIQRALRL | VEAISRDLSS | QLLKVLGTRK | LMHVAYEEFE | KVMVACFEVF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QTWDDEYEKL | QVLLRDIVKR | KREENLKMVW | RINPAHRKLQ | ARLDQMRKFR | RQHEQLRAVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VRVLRPQVTA | VAQQNQGEVP | EPQDMKVAEV | LFDAADANAI | EEVNLAYENV | KEVDGLDVSK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EGTEAWEAAM | KRYDERIDRV | ETRITARLRD | QLGTAKNANE | MFRIFSRFNA | LFVRPHIRGA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IREYQTQLIQ | RVKDDIESLH | DKFKVQYPQS | QACKMSHVRD | LPPVSGSIIW | AKQIDRQLTA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YMKRVEDVLG | KGWENHVEGQ | KLKQDGDSFR | MKLNTQEIFD | DWARKVQQRN | LGVSGRIFTI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ESTRVRGRTG | NVLKLKVNFL | PEIITLSKEV | RNLKWLGFRV | PLAIVNKAHQ | ANQLYPFAIS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LIESVRTYER | TCEKVEERNT | ISLLVAGLKK | EVQALIAEGI | ALVWESYKLD | PYVQRLAETV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FNFQEKVDDL | LIIEEKIDLE | VRSLETCMYD | HKTFSEILNR | VQKAVDDLNL | HSYSNLPIWV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NKLDMEIERI | LGVRLQAGLR | AWTQVLLGQA | EDKAEVDMDT | DAPQVSHKPG | GEPKIKNVVH |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ELRITNQVIY | LNPPIEECRY | KLYQEMFAWK | MVVLSLPRIQ | SQRYQVGVHY | ELTEEEKFYR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| NALTRMPDGP | VALEESYSAV | MGIVSEVEQY | VKVWLQYQCL | WDMQAENIYN | RLGEDLNKWQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ALLVQIRKAR | GTFDNAETKK | EFGPVVIDYG | KVQSKVNLKY | DSWHKEVLSK | FGQMLGSNMT |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EFHSQISKSR | QELEQHSVDT | ASTSDAVTFI | TYVQSLKRKI | KQFEKQVELY | RNGQRLLEKQ |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| RFQFPPSWLY | IDNIEGEWGA | FNDIMRRKDS | AIQQQVANLQ | MKIVQEDRAV | ESRTTDLLTD |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| WEKTKPVTGN | LRPEEALQAL | TIYEGKFGRL | KDDREKCAKA | KEALELTDTG | LLSGSEERVQ |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| VALEELQDLK | GVWSELSKVW | EQIDQMKEQP | WVSVQPRKLR | QNLDALLNQL | KSFPARLRQY |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| ASYEFVQRLL | KGYMKINMLV | IELKSEALKD | RHWKQLMKRL | HVNWVVSELT | LGQIWDVDLQ |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| KNEAIVKDVL | LVAQGEMALE | EFLKQIREVW | NTYELDLVNY | QNKCRLIRGW | DDLFNKVKEH |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| INSVSAMKLS | PYYKVFEEDA | LSWEDKLNRI | MALFDVWIDV | QRRWVYLEGI | FTGSADIKHL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LPVETQRFQS | ISTEFLALMK | KVSKSPLVMD | VLNIQGVQRS | LERLADLLGK | IQKALGEYLE |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| RERSSFPRFY | FVGDEDLLEI | IGNSKNVAKL | QKHFKKMFAG | VSSIILNEDN | SVVLGISSRE |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| GEEVMFKTPV | SITEHPKINE | WLTLVEKEMR | VTLAKLLAES | VTEVEIFGKA | TSIDPNTYIT |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| WIDKYQAQLV | VLSAQIAWSE | NVETALSSMG | GGGDAAPLHS | VLSNVEVTLN | VLADSVLMEQ |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| PPLRRRKLEH | LITELVHQRD | VTRSLIKSKI | DNAKSFEWLS | QMRFYFDPKQ | TDVLQQLSIQ |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| MANAKFNYGF | EYLGVQDKLV | QTPLTDRCYL | TMTQALEARL | GGSPFGPAGT | GKTESVKALG |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| HQLGRFVLVF | NCDETFDFQA | MGRIFVGLCQ | VGAWGCFDEF | NRLEERMLSA | VSQQVQCIQE |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| ALREHSNPNY | DKTSAPITCE | LLNKQVKVSP | DMAIFITMNP | GYAGRSNLPD | NLKKLFRSLA |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| MTKPDRQLIA | QVMLYSQGFR | TAEVLANKIV | PFFKLCDEQL | SSQSHYDFGL | RALKSVLVSA |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| GNVKRERIQK | IKREKEERGE | AVDEGEIAEN | LPEQEILIQS | VCETMVPKLV | AEDIPLLFSL |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| LSDVFPGVQY | HRGEMTALRE | ELKKVCQEMY | LTYGDGEEVG | GMWVEKVLQL | YQITQINHGL |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| MMVGPSGSGK | SMAWRVLLKA | LERLEGVEGV | AHIIDPKAIS | KDHLYGTLDP | NTREWTDGLF |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| THVLRKIIDS | VRGELQKRQW | IVFDGDVDPE | WVENLNSVLD | DNKLLTLPNG | ERLSLPPNVR |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| IMFEVQDLKY | ATLATVSRCG | MVWFSEDVLS | TDMIFNNFLA | RLRSIPLDEG | EDEAQRRRKG |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| KEDEGEEAAS | PMLQIQRDAA | TIMQPYFTSN | GLVTKALEHA | FQLEHIMDLT | RLRCLGSLFS |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| MLHQACRNVA | QYNANHPDFP | MQIEQLERYI | QRYLVYAILW | SLSGDSRLKM | RAELGEYIRR |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| ITTVPLPTAP | NIPIIDYEVS | ISGEWSPWQA | KVPQIEVETH | KVAAPDVVVP | TLDTVRHEAL |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| LYTWLAEHKP | LVLCGPPGSG | KTMTLFSALR | ALPDMEVVGL | NFSSATTPEL | LLKTFDHYCE |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| YRRTPNGVVL | APVQLGKWLV | LFCDEINLPD | MDKYGTQRVI | SFIRQMVEHG | GFYRTSDQTW |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| VKLERIQFVG | ACNPPTDPGR | KPLSHRFLRH | VPVVYVDYPG | PASLTQIYGT | FNRAMLRLIP |
| 2770 | 2780 | 2790 | 2800 | 2810 | 2820 |
| SLRTYAEPLT | AAMVEFYTMS | QERFTQDTQP | HYIYSPREMT | RWVRGIFEAL | RPLETLPVEG |
| 2830 | 2840 | 2850 | 2860 | 2870 | 2880 |
| LIRIWAHEAL | RLFQDRLVED | EERRWTDENI | DTVALKHFPN | IDREKAMSRP | ILYSNWLSKD |
| 2890 | 2900 | 2910 | 2920 | 2930 | 2940 |
| YIPVDQEELR | DYVKARLKVF | YEEELDVPLV | LFNEVLDHVL | RIDRIFRQPQ | GHLLLIGVSG |
| 2950 | 2960 | 2970 | 2980 | 2990 | 3000 |
| AGKTTLSRFV | AWMNGLSVYQ | IKVHRKYTGE | DFDEDLRTVL | RRSGCKNEKI | AFIMDESNVL |
| 3010 | 3020 | 3030 | 3040 | 3050 | 3060 |
| DSGFLERMNT | LLANGEVPGL | FEGDEYATLM | TQCKEGAQKE | GLMLDSHEEL | YKWFTSQVIR |
| 3070 | 3080 | 3090 | 3100 | 3110 | 3120 |
| NLHVVFTMNP | SSEGLKDRAA | TSPALFNRCV | LNWFGDWSTE | ALYQVGKEFT | SKMDLEKPNY |
| 3130 | 3140 | 3150 | 3160 | 3170 | 3180 |
| IVPDYMPVVY | DKLPQPPSHR | EAIVNSCVFV | HQTLHQANAR | LAKRGGRTMA | ITPRHYLDFI |
| 3190 | 3200 | 3210 | 3220 | 3230 | 3240 |
| NHYANLFHEK | RSELEEQQMH | LNVGLRKIKE | TVDQVEELRR | DLRIKSQELE | VKNAAANDKL |
| 3250 | 3260 | 3270 | 3280 | 3290 | 3300 |
| KKMVKDQQEA | EKKKVMSQEI | QEQLHKQQEV | IADKQMSVKE | DLDKVEPAVI | EAQNAVKSIK |
| 3310 | 3320 | 3330 | 3340 | 3350 | 3360 |
| KQHLVEVRSM | ANPPAAVKLA | LESICLLLGE | STTDWKQIRS | IIMRENFIPT | IVNFSAEEIS |
| 3370 | 3380 | 3390 | 3400 | 3410 | 3420 |
| DAIREKMKKN | YMSNPSYNYE | IVNRASLACG | PMVKWAIAQL | NYADMLKRVE | PLRNELQKLE |
| 3430 | 3440 | 3450 | 3460 | 3470 | 3480 |
| DDAKDNQQKA | NEVEQMIRDL | EASIARYKEE | YAVLISEAQA | IKADLAAVEA | KVNRSTALLK |
| 3490 | 3500 | 3510 | 3520 | 3530 | 3540 |
| SLSAERERWE | KTSETFKNQM | STIAGDCLLS | AAFIAYAGYF | DQQMRQNLFT | TWSHHLQQAN |
| 3550 | 3560 | 3570 | 3580 | 3590 | 3600 |
| IQFRTDIART | EYLSNADERL | RWQASSLPAD | DLCTENAIML | KRFNRYPLII | DPSGQATEFI |
| 3610 | 3620 | 3630 | 3640 | 3650 | 3660 |
| MNEYKDRKIT | RTSFLDDAFR | KNLESALRFG | NPLLVQDVES | YDPVLNPVLN | REVRRTGGRV |
| 3670 | 3680 | 3690 | 3700 | 3710 | 3720 |
| LITLGDQDID | LSPSFVIFLS | TRDPTVEFPP | DLCSRVTFVN | FTVTRSSLQS | QCLNEVLKAE |
| 3730 | 3740 | 3750 | 3760 | 3770 | 3780 |
| RPDVDEKRSD | LLKLQGEFQL | RLRQLEKSLL | QALNEVKGRI | LDDDTIITTL | ENLKREAAEV |
| 3790 | 3800 | 3810 | 3820 | 3830 | 3840 |
| TRKVEETDIV | MQEVETVSQQ | YLPLSTACSS | IYFTMESLKQ | IHFLYQYSLQ | FFLDIYHNVL |
| 3850 | 3860 | 3870 | 3880 | 3890 | 3900 |
| YENPNLKGVT | DHTQRLSIIT | KDLFQVAFNR | VARGMLHQDH | ITFAMLLARI | KLKGTVGEPT |
| 3910 | 3920 | 3930 | 3940 | 3950 | 3960 |
| YDAEFQHFLR | GNEIVLSAGS | TPRIQGLTVE | QAEAVVRLSC | LPAFKDLIAK | VQADEQFGIW |
| 3970 | 3980 | 3990 | 4000 | 4010 | 4020 |
| LDSSSPEQTV | PYLWSEETPA | TPIGQAIHRL | LLIQAFRPDR | LLAMAHMFVS | TNLGESFMSI |
| 4030 | 4040 | 4050 | 4060 | 4070 | 4080 |
| MEQPLDLTHI | VGTEVKPNTP | VLMCSVPGYD | ASGHVEDLAA | EQNTQITSIA | IGSAEGFNQA |
| 4090 | 4100 | 4110 | 4120 | 4130 | 4140 |
| DKAINTAVKS | GRWVMLKNVH | LAPGWLMQLE | KKLHSLQPHA | CFRLFLTMEI | NPKVPVNLLR |
| 4150 | 4160 | 4170 | 4180 | 4190 | 4200 |
| AGRIFVFEPP | PGVKANMLRT | FSSIPVSRIC | KSPNERARLY | FLLAWFHAII | QERLRYAPLG |
| 4210 | 4220 | 4230 | 4240 | 4250 | 4260 |
| WSKKYEFGES | DLRSACDTVD | TWLDDTAKGR | QNISPDKIPW | SALKTLMAQS | IYGGRVDNEF |
| 4270 | 4280 | 4290 | 4300 | 4310 | 4320 |
| DQRLLNTFLE | RLFTTRSFDS | EFKLACKVDG | HKDIQMPDGI | RREEFVQWVE | LLPDTQTPSW |
| 4330 | 4340 | 4350 | 4360 | 4370 | 4380 |
| LGLPNNAERV | LLTTQGVDMI | SKMLKMQMLE | DEDDLAYAET | EKKTRTDSTS | DGRPAWMRTL |
| 4390 | 4400 | 4410 | 4420 | 4430 | 4440 |
| HTTASNWLHL | IPQTLSHLKR | TVENIKDPLF | RFFEREVKMG | AKLLQDVRQD | LADVVQVCEG |
| 4450 | 4460 | 4470 | 4480 | 4490 | 4500 |
| KKKQTNYLRT | LINELVKGIL | PRSWSHYTVP | AGMTVIQWVS | DFSERIKQLQ | NISLAAASGG |
| 4510 | 4520 | 4530 | 4540 | 4550 | 4560 |
| AKELKNIHVC | LGGLFVPEAY | ITATRQYVAQ | ANSWSLEELC | LEVNVTTSQG | ATLDACSFGV |
| 4570 | 4580 | 4590 | 4600 | 4610 | 4620 |
| TGLKLQGATC | NNNKLSLSNA | ISTALPLTQL | RWVKQTNTEK | KASVVTLPVY | LNFTRADLIF |
| 4630 | 4640 | ||||
| TVDFEIATKE | DPRSFYERGV | AVLCTE |