O95163
PR
Gene name |
ELP1 |
Protein name |
Elongator complex protein 1 |
Names |
ELP1, IkappaB kinase complex-associated protein, IKK complex-associated protein, p150 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8518 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O95163
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5CQR | X-ray | 302 A | A | 715-1332 | PDB |
| AF-O95163-F1 | Predicted | AlphaFoldDB |
1198 variants for O95163
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000667495 rs1554703907 |
1 | M>L | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197531800 rs926177767 RCV000667461 RCV001204091 |
2 | R>* | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001829972 RCV001245864 rs1829992932 |
6 | L>F | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002462051 CA5175484 rs370041985 RCV000701177 RCV002533614 |
8 | R>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000692828 rs370041985 CA5175483 RCV002462029 RCV002485658 RCV001276646 |
8 | R>Q | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150202264 COSM3432750 RCV001342070 RCV000544785 CA5175485 RCV002483347 |
8 | R>W | Familial dysautonomia Medulloblastoma large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001834018 rs1250977761 RCV001232618 CA374395200 |
15 | I>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000235303 rs771715592 CA5175476 RCV001828121 |
19 | G>E | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667539 rs1554703874 |
20 | N>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5175472 RCV000667419 rs868073099 RCV001855480 |
27 | R>* | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000816537 CA5175470 RCV002500837 COSM1459203 rs375666523 RCV002461038 RCV000236785 |
27 | R>Q | Familial dysautonomia Medulloblastoma large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554703851 RCV000671254 RCV002531274 |
33 | V>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042658 RCV001276645 rs1829988830 |
40 | G>V | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001836165 RCV001219391 rs1829988347 |
44 | V>A | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs151209640 CA5175461 RCV001830154 RCV001298960 |
47 | V>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV002461280 rs143494120 RCV000540885 CA5175441 RCV002525282 |
52 | K>E | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000286470 CA10632038 rs755988042 |
60 | E>Q | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5175432 RCV000863374 RCV000345015 RCV002461129 rs143723093 |
68 | S>I | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs3737311 RCV000278649 RCV002461056 CA5175431 RCV000287654 VAR_047476 |
70 | R>C | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5175430 RCV000384303 RCV000858275 rs111936933 RCV001271221 |
70 | R>H | Familial dysautonomia Hereditary sensory and autonomic neuropathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002499032 RCV000630679 CA5175429 rs111936933 RCV001771848 |
70 | R>L | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001243189 RCV001829018 rs1241114854 CA374394118 |
77 | L>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554703582 CA374394082 RCV000630687 RCV001320689 |
79 | D>H | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797629 RCV001825561 rs1587926883 CA374394004 |
81 | E>D | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757852635 RCV002499278 CA5175424 RCV000707047 RCV001345125 |
92 | V>I | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000556713 RCV001271220 CA5175421 rs35942802 |
96 | S>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA374392175 rs1291760879 RCV000778872 RCV000596363 |
104 | C>* | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001047134 RCV001827295 rs764767995 CA5175394 |
105 | V>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000293104 RCV002523713 CA5175393 rs192047457 |
108 | V>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA374392032 RCV001279512 rs1451932418 |
112 | I>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000235685 RCV002479946 RCV001276640 CA5175389 rs775972369 |
120 | D>E | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10584298 RCV000235530 rs879254229 RCV001276641 |
120 | D>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002462158 CA5175365 RCV001830729 RCV000802027 rs370034421 |
142 | P>S | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001835413 RCV001298066 rs1829829317 |
151 | D>V | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000230652 rs557686367 RCV001833248 CA5175337 |
157 | K>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224714 RCV001833942 rs1829697305 |
172 | G>E | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001508264 RCV000542595 RCV002461286 rs758924768 CA5175332 RCV002291654 |
174 | E>K | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758442235 RCV000552955 RCV002525283 CA5175330 |
179 | A>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5175329 RCV000857493 RCV000242076 VAR_047477 RCV000332913 rs10521092 |
182 | M>K | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA197523264 RCV002542927 rs775011794 RCV001279510 |
192 | D>N | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001835581 rs1682473914 RCV001317856 |
194 | H>R | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197523253 RCV001051342 rs948923581 RCV001276637 |
198 | V>A | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5175300 RCV000630698 rs367552387 RCV002528840 |
201 | R>P | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000816184 RCV001772113 RCV002478899 CA5175299 rs367552387 |
201 | R>Q | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001051167 CA5175301 RCV002489618 RCV001827323 rs773117166 |
201 | R>W | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1829558657 RCV001279509 |
203 | D>V | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs184739734 RCV002495292 RCV002462204 RCV000869982 CA5175294 RCV001271218 |
206 | F>C | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1039834492 RCV001169198 |
209 | V>A | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805100 CA5175291 RCV001274638 rs541666513 |
210 | S>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV000668489 RCV000808850 RCV002462008 RCV002254707 rs759412460 |
214 | P>missing | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374387108 rs1564102159 RCV001279508 |
218 | A>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001563850 RCV002462870 rs749382362 CA5175270 RCV001242638 |
219 | R>Q | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374238430 CA5175271 RCV001880270 RCV002462899 RCV001278732 |
219 | R>W | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060029 rs777975034 RCV001274637 CA5175269 |
222 | R>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001832374 CA5175268 rs769746039 RCV001035671 |
223 | V>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812404 rs1274927283 CA374386823 RCV002537371 |
235 | E>K | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001247852 RCV001835312 CA374386525 rs1394468770 |
248 | P>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA291204 rs17853166 RCV000125396 RCV000353935 RCV000857369 |
251 | S>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5175236 RCV001302908 RCV000799924 rs371587578 |
260 | P>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA374386247 RCV002487860 rs1370759222 RCV001825674 RCV000824305 |
273 | L>I | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000668767 rs1554700891 |
273 | L>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564100993 COSM422011 CA374386219 RCV001278730 |
275 | H>R | Familial dysautonomia Variant assessed as Somatic; impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA5175228 RCV000560554 RCV001320817 rs770755917 |
281 | P>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000686633 RCV002462019 RCV001274635 rs777790000 CA5175226 RCV002477530 |
286 | E>Q | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755938001 RCV002491835 CA5175225 RCV001246660 RCV001835275 |
287 | V>I | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA197520471 RCV001205394 RCV002480672 RCV001833804 rs890474380 |
289 | V>A | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA374385411 RCV001278729 RCV001880269 rs1288706972 |
298 | S>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5175196 RCV000262689 RCV000755553 rs78135392 |
308 | L>P | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA291210 rs1140064 VAR_047478 RCV000857368 RCV000359268 RCV000125398 |
312 | E>K | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374814563 RCV000493897 RCV002488820 RCV000302687 RCV002461128 CA5175187 |
316 | P>L | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5175150 RCV001168464 RCV000613358 rs56053149 RCV000534244 RCV002461277 CA5175151 |
339 | S>R | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV002480906 rs770333327 RCV001278727 CA5175148 |
340 | T>A | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5175146 RCV002563204 RCV001834007 rs772819713 RCV001231650 |
345 | K>R | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000630680 CA5175144 RCV001276242 rs748458910 |
347 | V>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374429531 RCV000810073 rs1587908989 RCV001274633 |
348 | S>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002528300 RCV000549129 rs918763626 CA374429519 RCV001362399 CA197545105 |
350 | M>I | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795344 RCV001856247 rs187183483 CA5175138 |
354 | V>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002461127 rs139091484 RCV002481253 RCV000360847 RCV000791436 RCV003153567 CA5175135 |
358 | R>Q | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs774132326 RCV000699824 COSM1254710 CA5175130 RCV002533573 |
362 | L>F | Familial dysautonomia oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs367921553 CA5175128 RCV001830426 RCV001340581 |
365 | G>C | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1564096412 RCV000696060 CA374429428 RCV001295739 |
365 | G>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059964 rs376671881 CA5175116 RCV002482046 RCV003153919 RCV001276241 |
376 | T>M | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002485601 RCV000686605 rs766255360 CA5175112 RCV002544757 COSM201111 |
379 | R>W | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001060532 CA5175110 rs749865081 RCV002462302 RCV001832541 |
380 | S>T | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001278726 rs769108524 RCV002462898 CA5175106 RCV002480905 |
381 | V>M | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000727251 CA5175104 RCV002461021 RCV001274631 rs776167946 |
382 | G>R | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667470 RCV001232986 rs774890086 |
384 | N>* | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5175099 RCV001056979 RCV001274630 rs771123534 |
392 | A>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001829774 RCV000630682 rs1554699340 CA374429258 |
392 | A>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002541692 RCV002462897 rs571143526 RCV002486042 RCV001278725 CA5175098 |
394 | I>T | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002462869 rs1414061926 RCV001242474 |
396 | G>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369242781 RCV000542389 RCV002527667 CA5175079 |
405 | R>Q | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000780354 RCV001168463 CA5175080 RCV002461135 rs139703788 RCV000630703 RCV001276240 |
405 | R>W | Familial dysautonomia Hereditary sensory and autonomic neuropathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000696121 RCV001278723 CA5175074 RCV002462035 rs375957332 |
410 | P>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000626095 rs1554699019 CA374429005 |
419 | L>P | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002534609 RCV000796780 CA5175059 RCV002495051 RCV002462148 rs148609833 |
437 | N>H | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1829197624 RCV001064643 RCV002554466 |
446 | N>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147575152 RCV001278719 CA197543662 |
448 | I>T | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA5175052 RCV001834115 RCV001240160 rs755630402 |
449 | S>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002493597 rs1829196320 RCV001830210 RCV001304536 |
451 | Y>C | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001535663 RCV001228618 rs1829195961 |
452 | K>T | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5175034 rs149685738 RCV002461023 RCV001276239 RCV000227222 |
455 | D>G | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001066347 rs754743691 CA5175032 RCV001274629 |
462 | T>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1829093766 RCV001166748 |
464 | K>Q | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056066 RCV002482010 RCV002462295 rs368040993 CA5175030 RCV001276238 |
467 | A>D | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002462300 rs765727987 CA5175027 RCV001059966 |
470 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002488819 rs746116617 RCV000823322 RCV000404116 RCV002461126 |
480 | P>missing | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001274628 CA5175023 RCV000630678 rs764155403 |
486 | Y>C | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000667413 rs1554698037 |
489 | Q>* | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1829023404 RCV001166747 |
494 | E>D | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5174990 RCV001860493 rs779307491 RCV000630695 |
500 | P>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778215292 RCV002462838 CA5174986 RCV001217525 RCV001828729 |
504 | G>D | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5174982 RCV002461937 RCV000630689 rs755282356 RCV001274627 |
510 | E>G | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA197540437 RCV001276237 rs201706900 RCV000700992 |
513 | V>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
CA5174977 RCV002462865 RCV001240671 rs776729454 |
519 | H>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000860540 RCV000347949 RCV000125401 CA291217 rs838827 VAR_047479 |
525 | R>Q | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5174974 RCV001861909 rs766737737 RCV002462031 |
525 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001830118 CA5174973 RCV001294506 rs745586570 |
528 | I>M | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1829018937 RCV001278716 |
529 | H>R | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000290763 rs749608070 RCV002488818 CA5174969 CA374427230 RCV001850929 |
538 | M>I | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001338446 RCV002487634 rs1388151143 CA374427238 |
538 | M>T | Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1829015512 RCV001306663 RCV001830231 |
548 | S>G | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139891858 RCV001166746 |
552 | A>G | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376515761 RCV002462266 RCV001832378 CA5174934 RCV001036953 |
553 | V>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10632220 rs886063348 RCV000391792 |
570 | V>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554697136 RCV000672778 |
570 | V>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000605065 RCV001000053 CA5174923 rs35455790 RCV000757402 RCV001276236 |
574 | A>V | Familial dysautonomia Hereditary sensory and autonomic neuropathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001276235 CA10584297 rs879254309 RCV000235240 RCV002487103 |
577 | Q>R | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002462274 RCV001044042 rs199555804 CA5174921 RCV001832418 |
579 | F>I | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002499392 rs199555804 RCV001239109 CA5174920 |
579 | F>L | Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
TCGA novel RCV001166744 rs1828896752 |
583 | W>C | Familial dysautonomia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1828896602 RCV001827284 RCV001045581 |
584 | E>K | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835923 RCV000698326 RCV002533521 rs369856286 CA5174904 |
590 | I>V | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001855486 rs749959888 RCV000667718 |
592 | P>Q | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042450 CA5174900 RCV001832409 rs749510215 |
596 | S>P | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001297829 rs886063347 RCV000295825 RCV002461125 CA10628779 |
598 | G>R | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001299857 RCV002462912 rs369627815 RCV002504449 RCV001835428 CA5174893 |
602 | R>Q | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001247648 CA5174894 rs200397694 RCV002491840 |
602 | R>W | Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA240717 RCV000175047 RCV001832001 rs756919296 RCV002478566 |
605 | Y>C | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374425590 rs1428249476 RCV001831097 RCV001343508 |
607 | C>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5174863 rs370377909 RCV001278714 |
620 | C>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374424935 RCV001836288 RCV001313873 rs202085601 |
626 | D>N | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3763507 rs148378319 RCV002460953 CA240882 RCV000316773 RCV000724344 RCV000214808 |
629 | R>H | Familial dysautonomia large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001278713 rs1828814518 |
630 | F>L | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554696650 RCV000667503 |
634 | D>* | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5174836 RCV002493485 COSM245015 RCV002291742 RCV002462896 rs144370288 RCV002541691 RCV001278712 |
638 | A>V | kidney Familial dysautonomia Medulloblastoma prostate Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001276234 RCV001065144 rs377020122 CA5174833 |
642 | T>K | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000630684 RCV001276233 rs377020122 RCV002499033 CA5174832 RCV002461936 |
642 | T>M | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001278711 rs1828805989 RCV002480904 |
647 | Y>F | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667066 rs1554696595 |
648 | D>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764320309 RCV000698994 RCV001303762 CA5174827 |
654 | T>K | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA197537643 RCV000630697 rs372151936 RCV001034682 |
658 | H>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001831020 RCV001326656 rs200117008 |
659 | T>A | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673301 rs1554696580 |
661 | Q>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374423933 RCV000793147 rs1587896793 RCV001830694 |
669 | S>P | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527357 RCV000508233 RCV002481639 CA5174817 rs139479557 RCV002461265 RCV001276232 |
670 | F>C | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376699949 CA5174818 RCV000265311 RCV000823514 RCV002488817 |
670 | F>L | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001169160 CA5174792 rs537930129 RCV000863776 RCV002462200 |
676 | G>S | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000702982 rs756120509 RCV002462053 RCV002533675 CA5174791 |
678 | S>G | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1321906641 RCV001201383 RCV000554301 CA374423499 |
684 | H>Q | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000236057 rs201390288 RCV002479948 RCV001276230 CA5174787 |
689 | R>W | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA374423470 RCV001340483 rs761858315 RCV000630681 |
690 | K>E | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5174785 rs761858315 RCV001836215 RCV001241885 |
690 | K>Q | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000412398 rs763445509 |
693 | R>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002482833 RCV000006459 RCV000789660 VAR_011327 CA253767 rs137853022 RCV001380395 |
696 | R>P | Familial dysautonomia Charcot-Marie-Tooth disease Medulloblastoma HSAN3; mild phenotype; phosphorylation is reduced; does not affect interaction with ELP2; reduced interaction with ELP3; does not affect dimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002491803 RCV001835098 RCV002462866 RCV001241330 CA5174778 rs137853022 |
696 | R>Q | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002568565 RCV001243174 CA5174779 rs771647322 |
696 | R>W | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001828520 RCV001069698 RCV002497476 rs1828721515 |
698 | V>I | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693963 RCV002493188 rs370772658 CA197536699 RCV001868312 |
712 | P>S | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1828702034 RCV001278710 |
716 | L>F | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516865 RCV000411836 |
720 | H>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244637 CA5174753 RCV002491821 RCV001829934 rs370575901 |
722 | R>Q | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5174748 rs374558203 COSM1103683 RCV000306378 RCV002487264 |
730 | R>Q | Variant assessed as Somatic; 0.0 impact. Medulloblastoma endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001169159 CA5174729 rs747028759 |
737 | M>T | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002487659 RCV001358791 CA197534037 RCV002462143 RCV000794350 rs1034776233 |
748 | L>R | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000457066 CA16612684 RCV001314908 rs182287137 |
752 | L>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001827349 RCV002479333 RCV001054856 rs201601641 CA5174722 |
753 | N>S | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs146338880 CA5174700 RCV002493223 RCV002533597 RCV002462046 RCV000700681 |
762 | V>M | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000176295 CA201891 rs2230792 RCV000376411 VAR_047480 RCV000860346 |
765 | G>E | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554695751 RCV000672088 |
770 | F>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374421844 RCV001337986 rs1587893028 RCV000792738 |
774 | I>T | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001274119 RCV000630693 rs757701039 CA5174697 |
775 | D>E | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374421796 RCV001274118 RCV000823468 rs1431007165 |
779 | H>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1182966138 RCV001830987 CA374421761 RCV001324090 |
782 | L>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000669186 rs750344128 |
790 | E>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001834031 RCV001234722 CA5174661 rs532550445 |
791 | D>A | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002541690 RCV002480903 RCV001278709 rs546587836 CA197533297 |
792 | V>I | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201596987 RCV002462145 RCV001873238 CA5174655 RCV000795644 |
793 | T>M | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001835201 CA197533290 rs201596987 RCV001244341 |
793 | T>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5174654 RCV001830001 RCV001247011 RCV002484385 rs748482757 |
796 | M>V | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000665040 rs1358881100 |
800 | P>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835518 RCV001309318 rs1828592002 |
802 | T>S | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374421420 rs1445493033 RCV001825492 RCV000756273 |
803 | S>N | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs191464698 RCV002542868 RCV001277388 RCV002504390 CA5174650 RCV003166599 |
806 | Y>C | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA374421227 RCV000125405 CA291226 RCV000266693 VAR_047481 RCV000860345 rs2230793 |
816 | I>L | Familial dysautonomia [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
COSM3432749 RCV002507204 RCV000693286 rs770590151 RCV002532232 CA5174642 |
821 | D>N | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA291229 RCV000363674 RCV000860430 RCV000125406 rs2230794 VAR_047482 |
830 | I>M | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246444 RCV002568655 RCV001277386 CA374420907 rs1307998361 |
832 | P>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002480786 RCV002462863 RCV001277385 RCV001239450 CA5174636 rs201714373 |
833 | H>P | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000793636 rs767527819 RCV003168972 RCV000483202 |
834 | K>* | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001274117 CA5174634 rs764026138 RCV001057573 |
834 | K>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs879253977 RCV000306698 CA10584296 RCV000236473 |
836 | C>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5174613 RCV001880226 rs779097269 RCV001277383 |
839 | I>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1828577961 RCV001277382 |
843 | H>R | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002461028 RCV000514111 RCV000272652 RCV000236972 VAR_047483 CA5174608 rs10979599 |
848 | T>N | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199796698 CA5174598 RCV001226484 RCV001836176 |
860 | E>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002462894 RCV002537749 rs137983175 CA5174600 RCV001277381 |
860 | E>K | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000805892 rs146958186 CA5174569 RCV001274115 |
877 | A>T | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001224059 RCV001563852 CA374419911 rs1423041055 |
892 | D>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5174561 RCV001277380 rs200590656 RCV001308071 |
896 | G>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1828552741 RCV001277379 |
903 | V>I | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006460 rs28939712 CA253769 VAR_085681 RCV000789661 |
914 | P>L | Familial dysautonomia Charcot-Marie-Tooth disease HSAN3; reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000806494 RCV001274114 rs1378971881 CA374418974 RCV002462168 |
929 | T>S | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000811480 CA5174538 COSM1459192 rs763312635 RCV001274113 RCV002501105 |
933 | R>W | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs776891269 RCV002499270 RCV000705075 CA5174534 RCV001342880 |
934 | F>C | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000351107 rs145484092 RCV000757403 RCV002291624 CA5174532 RCV002461121 |
935 | T>S | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246011 RCV001835255 CA5174531 rs199617267 RCV002462876 |
936 | I>T | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1239561807 RCV002483348 RCV000536658 RCV002528301 CA374418905 |
936 | I>V | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs749052963 RCV000410939 CA5174529 |
939 | Y>* | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001052645 rs761911009 RCV002505601 RCV002462289 CA5174528 |
942 | R>* | Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001166669 RCV002291611 COSM1242372 RCV002461019 RCV000757401 CA5174526 rs149845612 |
942 | R>Q | Familial dysautonomia oesophagus Medulloblastoma Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493220 CA5174524 rs201440191 RCV001271567 RCV000700131 |
949 | H>Y | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2230798 RCV000857357 CA5174521 VAR_047484 RCV000249304 RCV000465354 |
952 | K>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758112773 RCV001828677 RCV001209068 CA5174504 |
955 | P>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001277378 rs1828405751 RCV002537748 |
957 | Y>F | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374418363 COSM1489544 RCV001828764 rs146198104 RCV002462841 RCV001221309 |
970 | L>F | Familial dysautonomia breast Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002499435 RCV002462882 RCV001844278 RCV001248536 CA5174498 rs180931232 RCV001830041 |
970 | L>M | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001277377 CA5174494 RCV002462893 rs151120244 RCV002493464 RCV002542867 |
974 | A>T | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002461022 RCV000229285 rs749200669 RCV000798294 CA5174492 |
983 | Q>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5174491 rs371186754 RCV001060589 RCV001832542 |
984 | Q>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1376166738 RCV000674918 |
998 | Q>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828328786 RCV001277376 RCV002499465 |
998 | Q>E | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5174465 RCV001044713 rs144959233 RCV001832423 RCV002462276 |
1001 | M>T | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001275746 RCV000235922 rs55658431 RCV002461037 CA5174462 RCV002487102 |
1005 | A>V | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002568556 rs763981711 CA5174455 RCV001563851 RCV001242713 RCV002480813 |
1011 | R>C | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000630683 RCV002477378 rs368999377 CA5174454 RCV000999198 |
1011 | R>H | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_047485 RCV000407382 RCV000857492 rs2230795 CA5174450 RCV000254080 |
1013 | G>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341017 RCV002476574 RCV001830431 rs770540843 CA5174449 |
1014 | A>T | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001205995 CA5174448 rs762687399 RCV001828651 |
1015 | H>Y | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001277375 CA374416850 RCV002504389 RCV002462892 rs1296107083 |
1021 | A>S | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA374416838 rs1226103389 RCV001827310 RCV001049100 |
1021 | A>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5174443 RCV001836162 RCV002462839 rs372822046 RCV001218044 |
1022 | F>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5174438 rs778943416 RCV001047302 RCV001275744 |
1027 | N>D | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA374416266 RCV000630685 rs1554694121 RCV001327709 |
1042 | K>N | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001000951 CA374416247 rs1388335304 |
1043 | D>G | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1286140759 RCV001277374 CA374416173 RCV002486022 |
1046 | V>A | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001789780 RCV000999197 CA5174425 rs148548795 |
1051 | T>A | Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA197528451 RCV001833947 RCV002491711 RCV001225399 rs147069577 |
1057 | V>A | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA197528443 rs972475636 COSM245014 RCV000791589 RCV001296600 |
1065 | A>V | Familial dysautonomia Variant assessed as Somatic; impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000630694 rs140024352 RCV001201381 RCV002461938 CA5174389 |
1071 | E>D | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_047486 RCV000280679 RCV000250637 rs3204145 RCV000589688 CA5174387 COSM3763505 |
1072 | C>S | Familial dysautonomia large_intestine reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5174367 RCV001828932 RCV001239684 rs752344797 |
1079 | A>V | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000339347 RCV001201382 RCV002461120 rs61749203 RCV002502402 RCV001789773 CA5174364 |
1087 | A>T | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001166178 CA5174360 RCV002461020 RCV000659118 rs146440397 |
1094 | R>G | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200941360 RCV003166490 RCV002491784 RCV001239314 RCV001277371 CA5174359 |
1094 | R>K | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001835517 rs1827936975 RCV001309315 |
1109 | V>A | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5174343 rs761896714 RCV002536364 RCV000702826 |
1109 | V>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001830120 RCV001294903 rs763262745 |
1113 | I>L | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671903 rs1554691848 |
1120 | Y>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374412550 RCV001007912 rs1587873285 |
1123 | F>S | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001830298 RCV001315845 CA5174324 rs753992200 |
1125 | D>E | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5174320 RCV001041168 rs372499865 COSM1103678 RCV002532058 RCV000666894 |
1133 | R>C | Familial dysautonomia endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5174317 RCV001829402 rs143580972 RCV000489816 |
1133 | R>H | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5174315 RCV001880225 rs377679012 RCV001277370 |
1137 | R>C | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5174314 RCV002506288 rs202080366 RCV000548552 RCV002461285 |
1139 | L>F | Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002495083 CA5174310 RCV000802774 rs771838754 RCV001316191 |
1152 | G>S | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs202165319 RCV001299480 RCV002504448 RCV001830162 CA5174287 |
1154 | D>G | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886063346 CA10632215 RCV000326098 |
1157 | V>I | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5174286 COSM3763504 VAR_047487 RCV000860288 RCV000245565 rs1538660 RCV000268649 |
1158 | P>L | Familial dysautonomia thyroid large_intestine reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1032686725 RCV000807672 RCV001275742 RCV002537259 CA197520413 |
1160 | G>R | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs144301886 CA197520390 RCV001277369 RCV001880224 |
1165 | L>F | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs143008686 CA374411800 RCV001234270 RCV001828864 |
1174 | S>N | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002485626 RCV001271564 RCV002462024 RCV000689067 rs749668335 CA5174271 |
1176 | S>N | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201781695 RCV001231074 RCV002491742 RCV001828845 CA197520314 |
1184 | H>R | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000366999 rs886063345 CA10632028 COSM461379 |
1197 | R>H | cervix Familial dysautonomia Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002499163 rs376078668 CA5174237 RCV000668488 RCV001071602 |
1198 | R>* | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001245324 CA5174235 RCV001277366 rs200322331 RCV002480834 COSM1103675 |
1198 | R>Q | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201168521 CA5174231 RCV002505579 RCV001045574 RCV002462277 RCV001271563 |
1202 | R>W | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000669752 rs1453695293 |
1208 | K>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588759 RCV001224978 rs781333644 |
1215 | D>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279855 rs1827793180 |
1217 | A>T | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835269 rs1306291143 RCV001246489 |
1226 | V>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835149 RCV001242977 rs1272852371 RCV002462871 CA374411199 |
1227 | Q>R | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002527668 CA5174217 RCV000541831 rs764936574 |
1230 | E>Q | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000231324 RCV002461024 CA5174199 RCV001828118 rs756928248 |
1244 | F>V | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001279854 RCV003166514 CA5174193 RCV001242639 rs760084617 |
1253 | R>G | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766517046 RCV000553861 CA5174191 RCV002483349 RCV001308313 |
1256 | Q>R | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001212892 rs1827768156 RCV001833863 |
1260 | E>V | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671711 rs1554691544 |
1262 | T>missing | Familial dysautonomia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200634033 CA5174188 RCV001279853 |
1262 | T>A | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002523712 RCV000315333 CA5174187 RCV000756274 rs199723919 |
1262 | T>M | Familial dysautonomia Inborn genetic diseases Variant assessed as Somatic; 0.000231 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002504257 RCV002290642 RCV001214239 rs1827767235 |
1264 | Q>* | Medulloblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002524579 rs201888676 RCV000276571 CA5174185 |
1264 | Q>R | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002462312 RCV001275740 CA5174179 RCV002482088 RCV001065145 rs558588647 |
1276 | L>P | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1446325480 RCV001224188 RCV002480739 |
1278 | Y>missing | Medulloblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5174173 RCV003163101 RCV002545892 RCV000685828 rs199813856 |
1285 | P>L | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000355008 rs145319352 RCV002461118 RCV000757404 CA5174147 |
1290 | N>S | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002462263 RCV001034877 RCV001271560 rs762773957 CA5174144 |
1296 | I>V | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001247403 RCV001830013 rs200524123 RCV002484388 CA5174139 |
1301 | Q>H | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs780649768 CA374410372 RCV000672545 |
1306 | S>* | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780649768 COSM3847289 RCV000685217 RCV002493136 CA5174138 RCV001324208 |
1306 | S>L | Familial dysautonomia Variant assessed as Somatic; 0.0 impact. Medulloblastoma breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554735745 RCV000667529 CA374409656 |
1313 | E>* | Familial dysautonomia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001861910 rs1554735745 CA374409659 RCV002462033 RCV000693675 |
1313 | E>K | Familial dysautonomia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5174114 RCV002462877 RCV001279852 RCV001246735 rs199595486 RCV002480843 |
1317 | P>T | Familial dysautonomia Medulloblastoma Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374409428 rs1554735724 RCV002477505 RCV000671681 |
1326 | W>* | Familial dysautonomia Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA374395501 rs1201237100 |
2 | R>Q | No |
ClinGen gnomAD |
|
|
rs1379847365 CA374395358 |
7 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs761669364 CA5175481 |
9 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765095525 CA5175482 |
9 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1587928571 CA374395293 |
11 | E>A | No |
ClinGen Ensembl |
|
|
CA5175480 rs776542345 |
12 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA374395212 rs1213913313 |
14 | D>G | No |
ClinGen gnomAD |
|
|
CA374395221 rs1480025536 |
14 | D>H | No |
ClinGen TOPMed |
|
|
rs184017312 CA5175479 |
17 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760154804 CA5175478 |
18 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5175477 rs775044790 |
19 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201242143 CA5175475 |
20 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374395106 rs201242143 |
20 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5175474 rs774711175 |
21 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228229738 CA374395093 |
21 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 23 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374395070 rs1481645757 |
23 | C>R | No |
ClinGen gnomAD |
|
|
TCGA novel rs1829990677 RCV001054841 |
25 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
COSM606920 rs868073099 CA374395019 |
27 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs977172542 CA197531669 |
29 | E>K | No |
ClinGen TOPMed |
|
|
rs528897110 CA5175469 |
30 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756305418 CA5175467 |
32 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5175465 rs781294771 |
33 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5175464 rs140944971 |
34 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374394889 rs1425599728 |
35 | I>T | No |
ClinGen gnomAD |
|
|
rs1478106253 CA374394896 |
35 | I>V | No |
ClinGen gnomAD |
|
|
CA374394872 rs1191432842 |
36 | G>A | No |
ClinGen gnomAD |
|
|
CA374394848 rs1267475297 |
38 | E>G | No |
ClinGen gnomAD |
|
|
CA197531653 rs986509123 |
41 | L>V | No |
ClinGen gnomAD |
|
|
COSM3745747 CA5175462 rs765142861 |
42 | I>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1264033111 CA374394732 |
45 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1293267613 CA374394725 |
46 | P>S | No |
ClinGen TOPMed |
|
|
rs151209640 CA5175460 |
47 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5175459 rs763985571 |
49 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197530743 rs576897189 |
51 | V>A | No |
ClinGen 1000Genomes |
|
|
CA374394534 rs1320969095 |
51 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374394442 rs1447829991 |
56 | S>C | No |
ClinGen gnomAD |
|
|
rs1329107856 CA374394397 |
58 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5175439 rs777709324 |
59 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA374394381 rs750249949 |
60 | E>A | No |
ClinGen Ensembl |
|
|
CA197530713 rs750249949 |
60 | E>G | No |
ClinGen Ensembl |
|
|
rs755988042 CA5175438 |
60 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 63 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758948098 CA5175436 |
64 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374394302 rs1587926947 |
66 | D>G | No |
ClinGen Ensembl |
|
|
rs766091903 CA5175434 |
67 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5175433 rs143723093 |
68 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374394215 rs1202726398 |
73 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1419071826 CA374394205 |
74 | V>L | No |
ClinGen TOPMed |
|
|
rs747026449 CA5175427 |
75 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374393882 rs1587926867 |
87 | T>P | No |
ClinGen Ensembl |
|
|
CA374393836 rs1237972841 |
89 | S>F | No |
ClinGen gnomAD |
|
|
rs1181341289 CA374393706 |
93 | I>T | No |
ClinGen gnomAD |
|
|
CA5175423 rs777478250 |
94 | L>P | No |
ClinGen ExAC |
|
|
CA5175420 rs372571633 |
98 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754549877 CA5175419 |
99 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5175395 rs750152367 |
102 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1333911698 CA374392139 |
107 | S>I | No |
ClinGen gnomAD |
|
|
CA374392102 rs1220421991 |
109 | A>T | No |
ClinGen gnomAD |
|
|
CA374392082 rs1336475651 |
109 | A>V | No |
ClinGen TOPMed |
|
|
rs754105026 CA5175392 |
113 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1587924458 RCV001383019 |
117 | W>missing | No |
ClinVar dbSNP |
|
|
RCV000806264 rs1587924452 |
118 | S>missing | No |
ClinVar dbSNP |
|
|
CA5175388 rs767633275 |
122 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229842710 CA374391741 |
125 | L>P | No |
ClinGen TOPMed |
|
|
rs774585995 CA5175386 |
128 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1171973605 CA374391672 |
128 | T>I | No |
ClinGen gnomAD |
|
|
CA197529044 rs868555271 |
129 | G>S | No |
ClinGen Ensembl |
|
|
rs753242604 CA5175370 |
130 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA5175369 rs767971157 |
131 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5175368 rs201460139 |
137 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5175367 rs535050583 |
141 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA197528362 rs571422569 |
143 | I>V | No |
ClinGen gnomAD |
|
|
CA5175364 rs773466412 |
145 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1266265071 CA374391168 |
147 | Q>P | No |
ClinGen TOPMed |
|
|
rs1443600437 CA374391152 |
148 | I>F | No |
ClinGen gnomAD |
|
|
rs1443600437 CA374391156 |
148 | I>V | No |
ClinGen gnomAD |
|
|
CA5175363 rs760519575 |
149 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197528312 rs983028169 |
155 | E>Q | No |
ClinGen Ensembl |
|
|
rs1438474317 CA374389622 |
156 | S>I | No |
ClinGen TOPMed |
|
|
CA5175338 rs748791244 |
157 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1829700782 RCV001201788 |
159 | I>missing | No |
ClinVar dbSNP |
|
|
rs149617554 CA5175336 |
161 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374389514 rs1406884630 |
161 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5175334 rs565257577 |
162 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374389464 rs1184388083 |
164 | G>D | No |
ClinGen gnomAD |
|
|
rs765765951 CA197525390 |
164 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 168 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001232391 rs1829698275 |
169 | Q>missing | No |
ClinVar dbSNP |
|
|
CA374389375 rs755319650 |
169 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA5175333 rs755319650 |
169 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
rs202179488 CA197525373 |
171 | H>D | No |
ClinGen Ensembl |
|
|
CA374389287 rs758924768 |
174 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222681518 CA374389280 |
174 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA374389289 rs758924768 |
174 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374389190 rs1323890213 |
179 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5175331 rs758442235 |
179 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233243651 CA374389136 |
181 | Q>H | No |
ClinGen gnomAD |
|
|
rs1361676312 CA374389112 |
183 | Q>E | No |
ClinGen TOPMed |
|
|
rs1280230991 CA374389106 |
183 | Q>P | No |
ClinGen gnomAD |
|
|
rs1367376224 CA374389094 |
184 | M>L | No |
ClinGen gnomAD |
|
|
rs1325046180 CA374388764 |
185 | H>R | No |
ClinGen gnomAD |
|
|
rs1564102567 CA374388753 |
186 | E>K | No |
ClinGen Ensembl |
|
|
CA374388719 rs1267050514 |
188 | A>P | No |
ClinGen gnomAD |
|
|
CA374388663 rs1343495027 |
190 | P>S | No |
ClinGen TOPMed |
|
|
rs751308604 CA197523270 |
191 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751308604 CA5175304 |
191 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215388428 CA374388588 |
192 | D>E | No |
ClinGen TOPMed |
|
|
CA374388594 rs1316096023 |
192 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 192 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197523262 rs1054248843 |
194 | H>D | No |
ClinGen Ensembl |
|
|
rs948923581 CA197523255 |
198 | V>D | No |
ClinGen TOPMed |
|
|
rs990602864 CA197523235 |
199 | T>N | No |
ClinGen TOPMed |
|
|
rs776300430 CA5175298 |
202 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374388355 rs1156519021 |
202 | G>W | No |
ClinGen TOPMed |
|
| rs752490541 | 203 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747349523 CA5175296 |
203 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197523215 rs559784156 |
208 | A>G | No |
ClinGen 1000Genomes |
|
| rs765038815 | 209 | V>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039834492 CA197523209 |
209 | V>E | No |
ClinGen Ensembl |
|
|
rs1302952766 CA374387392 |
211 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs944325914 CA197523163 |
216 | T>I | No |
ClinGen Ensembl |
|
|
rs1429838721 CA374387049 |
222 | R>K | No |
ClinGen TOPMed |
|
|
CA374387045 rs1190729400 |
222 | R>S | No |
ClinGen gnomAD |
|
|
CA374387036 rs1312638005 |
223 | V>E | No |
ClinGen Ensembl |
|
|
rs1829544561 RCV001210278 |
224 | W>* | No |
ClinVar dbSNP |
|
|
RCV000793111 rs1449016398 |
225 | N>missing | No |
ClinVar dbSNP |
|
|
rs748449813 CA5175267 |
226 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5175266 rs758239907 |
226 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758239907 CA5175265 |
226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462652310 CA374386959 |
227 | E>D | No |
ClinGen gnomAD |
|
|
CA5175264 rs750173937 |
228 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1356812138 CA374386856 RCV001295495 COSM1701501 |
233 | T>A | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA374386852 rs1356812138 |
233 | T>S | No |
ClinGen gnomAD |
|
|
rs374008013 CA197522901 |
236 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA374386812 rs1231418805 |
236 | P>T | No |
ClinGen gnomAD |
|
|
CA374386691 rs1278339521 |
242 | P>R | No |
ClinGen gnomAD |
|
|
CA5175262 rs757122140 |
243 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5175261 rs200836328 |
244 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1317221906 CA374386655 |
246 | W>* | No |
ClinGen gnomAD |
|
|
rs1411690049 CA374386531 |
248 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755681735 CA5175240 |
249 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5175239 rs376142604 |
253 | I>T | No |
ClinGen ESP ExAC |
|
|
rs754741665 CA5175238 |
254 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1453585233 CA374386450 |
256 | T>A | No |
ClinGen gnomAD |
|
|
CA374386429 rs1238666994 |
257 | Q>L | No |
ClinGen gnomAD |
|
|
rs1206581781 CA374386420 |
258 | D>G | No |
ClinGen gnomAD |
|
|
CA374386424 rs1442524577 |
258 | D>H | No |
ClinGen TOPMed |
|
|
rs1442524577 CA374386425 |
258 | D>N | No |
ClinGen TOPMed |
|
|
CA5175237 rs751242117 |
259 | K>Q | No |
ClinGen ExAC |
|
|
CA5175234 rs773795684 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5175235 rs773795684 |
261 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA5175233 rs765609760 |
263 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1278541052 CA374386350 |
264 | D>G | No |
ClinGen TOPMed |
|
|
CA374386355 rs1349687127 |
264 | D>H | No |
ClinGen gnomAD |
|
|
rs1024528175 CA197521743 |
265 | I>T | No |
ClinGen Ensembl |
|
|
CA374386342 rs1350877547 |
265 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300812263 CA374386309 |
268 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339594475 CA374386260 |
272 | G>R | No |
ClinGen gnomAD |
|
|
CA374386209 rs1352823572 |
276 | G>E | No |
ClinGen gnomAD |
|
|
CA5175231 rs768721635 |
276 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5175229 rs775668128 |
280 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5175230 rs775668128 |
280 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770755917 CA374386156 |
281 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172028452 CA374386150 |
282 | F>V | No |
ClinGen gnomAD |
|
|
rs748996793 CA5175227 |
282 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV001326810 rs1829487738 |
285 | D>V | No |
ClinVar dbSNP |
|
| TCGA novel | 285 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197521632 rs1031067109 |
287 | V>A | No |
ClinGen Ensembl |
|
|
CA197521631 rs202184408 |
288 | K>E | No |
ClinGen gnomAD |
|
|
rs1231811799 CA374386084 |
288 | K>R | No |
ClinGen gnomAD |
|
|
CA5175205 rs754561781 |
290 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374385481 rs1337015456 |
292 | L>F | No |
ClinGen gnomAD |
|
|
rs1291582004 CA374385447 |
295 | N>S | No |
ClinGen gnomAD |
|
|
rs1362844556 CA374385422 |
297 | D>G | No |
ClinGen gnomAD |
|
|
CA374385407 rs1344429906 |
299 | S>A | No |
ClinGen gnomAD |
|
|
CA374385404 rs1488895662 |
299 | S>C | No |
ClinGen TOPMed |
|
|
CA374385402 rs1488895662 |
299 | S>F | No |
ClinGen TOPMed |
|
|
rs548158784 CA5175201 COSM302415 |
300 | V>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
rs1463001089 CA374385375 |
302 | A>V | No |
ClinGen gnomAD |
|
|
CA374385369 rs1163492529 |
303 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368237362 CA5175199 |
304 | W>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs754384114 CA5175198 |
306 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754384114 CA374385336 |
306 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5175197 rs764545778 |
307 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5175194 rs767578318 |
309 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374385227 rs1470273863 |
310 | R>G | No |
ClinGen gnomAD |
|
|
rs1271832936 CA374385221 |
310 | R>K | No |
ClinGen gnomAD |
|
|
rs774610905 CA5175193 |
313 | S>G | No |
ClinGen ExAC |
|
|
rs774610905 CA374385169 |
313 | S>R | No |
ClinGen ExAC |
|
|
CA5175191 rs769516004 |
314 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5175188 rs768653979 |
315 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5175189 rs776727368 |
315 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs145866678 CA197520398 |
320 | V>I | No |
ClinGen Ensembl |
|
|
CA374429702 rs1355576974 |
323 | W>* | No |
ClinGen gnomAD |
|
|
rs1159235595 CA374429704 |
323 | W>R | No |
ClinGen TOPMed |
|
|
rs943886815 CA197545188 |
324 | T>A | No |
ClinGen TOPMed |
|
|
CA5175155 rs750663365 |
328 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374429668 rs750663365 |
328 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750663365 CA374429667 |
328 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764033545 CA5175154 |
329 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5175153 rs760519594 |
332 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1454642061 CA374429625 |
334 | Q>* | No |
ClinGen gnomAD |
|
|
rs775321513 CA5175152 |
336 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA374429591 rs1350193684 |
339 | S>G | No |
ClinGen TOPMed |
|
|
CA197545181 rs1041795228 |
339 | S>N | No |
ClinGen TOPMed |
|
|
CA374429590 rs1350193684 |
339 | S>R | No |
ClinGen TOPMed |
|
|
CA197545137 rs200449531 |
340 | T>I | No |
ClinGen 1000Genomes |
|
|
rs770333327 CA5175149 |
340 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374294411 CA5175147 |
344 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374429545 rs1484853512 |
346 | I>F | No |
ClinGen gnomAD |
|
|
rs1289022007 CA374429542 |
346 | I>M | No |
ClinGen TOPMed |
|
|
CA5175145 rs770175441 |
346 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374429527 rs1222508100 |
349 | L>P | No |
ClinGen TOPMed |
|
|
CA5175142 rs755444003 |
350 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227753250 CA374429509 |
352 | D>N | No |
ClinGen gnomAD |
|
|
CA5175139 rs780241310 |
353 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374429483 rs1339454272 |
356 | P>S | No |
ClinGen gnomAD |
|
|
CA197545069 rs914639779 |
357 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs750718439 CA5175136 |
358 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5175134 rs2230789 |
359 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759585958 CA5175131 |
360 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767363050 CA5175132 |
360 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5175127 rs772872777 |
366 | W>* | No |
ClinGen ExAC |
|
|
rs748461473 CA5175126 |
367 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286235792 CA374429417 |
367 | H>R | No |
ClinGen gnomAD |
|
|
CA5175125 rs748461473 |
367 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5175124 rs777118540 |
369 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768886458 CA5175123 |
370 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5175122 rs747603780 |
371 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197544970 rs755055316 |
372 | D>H | No |
ClinGen gnomAD |
|
|
CA5175120 rs141141120 |
373 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5175119 rs745895326 |
374 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5175118 rs201976177 |
375 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5175117 rs757489921 |
376 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs34487171 CA5175114 |
377 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5175113 rs766255360 RCV001344006 |
379 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5175111 rs762459195 |
379 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5175109 rs771575205 |
380 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769108524 CA5175107 |
381 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374429322 rs1254770684 |
383 | D>Y | No |
ClinGen gnomAD |
|
|
CA374429312 rs1435639013 |
384 | N>S | No |
ClinGen TOPMed |
|
|
CA374429296 rs1450510797 |
386 | S>R | No |
ClinGen gnomAD |
|
|
CA5175101 rs745948468 |
389 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5175100 rs779202159 |
390 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA374429271 RCV000630677 rs1273486554 |
390 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1372225878 CA374429249 |
394 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374429234 rs1445991549 |
396 | G>* | No |
ClinGen gnomAD |
|
|
CA374429231 rs1414061926 |
396 | G>V | No |
ClinGen gnomAD |
|
|
rs749277039 CA5175081 |
397 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA374429209 rs1271603200 |
398 | R>K | No |
ClinGen TOPMed |
|
|
CA374429204 rs1173610620 |
399 | V>M | No |
ClinGen gnomAD |
|
|
rs1413715892 CA374429197 |
400 | L>V | No |
ClinGen gnomAD |
|
|
rs1305712005 CA374429183 |
402 | T>S | No |
ClinGen TOPMed |
|
|
rs1471308928 CA374429175 |
403 | V>A | No |
ClinGen gnomAD |
|
|
CA374429178 rs1160263530 |
403 | V>L | No |
ClinGen gnomAD |
|
|
CA374429166 rs1188204761 |
404 | F>L | No |
ClinGen gnomAD |
|
|
CA374429169 rs1410649262 |
404 | F>S | No |
ClinGen gnomAD |
|
|
CA5175077 rs779879493 |
406 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs779879493 CA5175078 |
406 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA197543916 rs536685247 |
407 | T>I | No |
ClinGen 1000Genomes |
|
|
rs980348883 CA197543903 |
409 | V>F | No |
ClinGen TOPMed |
|
|
CA197543876 CA5175072 rs753233448 |
413 | M>I | No |
ClinGen ExAC |
|
|
rs756192004 CA197543855 |
415 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5175071 rs749596892 |
416 | Y>* | No |
ClinGen ExAC |
|
|
CA374429039 rs1564095399 |
416 | Y>* | No |
ClinGen Ensembl |
|
|
rs1285154178 CA374429045 |
416 | Y>C | No |
ClinGen Ensembl |
|
|
rs1301344134 CA374429033 |
417 | Q>* | No |
ClinGen gnomAD |
|
|
rs1272529826 CA374429027 |
417 | Q>R | No |
ClinGen gnomAD |
|
|
CA5175065 rs775019079 |
422 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5175066 rs759937441 |
422 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA374428945 rs1464125669 |
424 | V>E | No |
ClinGen TOPMed |
|
|
rs1042476573 CA197543818 |
424 | V>M | No |
ClinGen Ensembl |
|
|
rs1179256882 CA374428928 |
426 | Q>K | No |
ClinGen TOPMed |
|
|
rs1332564048 CA374428713 |
431 | A>V | No |
ClinGen TOPMed |
|
|
rs773228197 CA5175062 |
432 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748415692 CA5175060 |
436 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1243110226 CA374428681 |
436 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA374428677 rs1218550029 |
436 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374428672 rs1224785997 |
437 | N>K | No |
ClinGen TOPMed |
|
|
CA197543775 rs368802950 |
437 | N>S | No |
ClinGen ESP |
|
|
CA5175058 rs372117651 |
439 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372117651 CA374428661 |
439 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5175056 rs778927429 |
441 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374428611 rs1271784136 |
447 | Q>K | No |
ClinGen gnomAD |
|
|
rs755630402 CA374428593 |
449 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344156465 CA374428592 |
450 | V>I | No |
ClinGen gnomAD |
|
|
rs1476911644 CA374428584 |
451 | Y>H | No |
ClinGen TOPMed |
|
|
CA5175051 rs752427486 |
453 | C>Y | No |
ClinGen ExAC |
|
|
CA5175050 rs767229022 |
454 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1194101760 CA374428548 |
454 | G>V | No |
ClinGen gnomAD |
|
|
rs1355868839 CA374428545 |
455 | D>N | No |
ClinGen gnomAD |
|
|
rs780996375 CA5175033 |
461 | P>S | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA5175031 rs751206488 |
466 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA374428468 rs1269246218 |
467 | A>P | No |
ClinGen TOPMed |
|
|
rs758755864 CA5175029 |
469 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758755864 CA374428457 |
469 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5175028 rs541458884 |
469 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 475 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761896298 CA5175026 |
481 | H>R | No |
ClinGen ExAC |
|
|
CA374428259 rs1361220963 |
484 | K>N | No |
ClinGen TOPMed |
|
|
rs1235143099 CA374428224 |
486 | Y>H | No |
ClinGen gnomAD |
|
|
rs761889998 CA5174996 |
488 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5174995 rs140229715 |
489 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374427733 rs1421812017 |
490 | F>L | No |
ClinGen gnomAD |
|
|
CA374427728 rs768311202 CA374427727 |
490 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205641282 CA374427722 |
491 | E>G | No |
ClinGen gnomAD |
|
|
rs768857819 CA197540465 |
493 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs746477382 CA5174993 |
493 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA374427687 rs749704610 RCV000791631 |
496 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs749704610 CA197540457 |
496 | Q>E | No |
ClinGen TOPMed |
|
|
rs771689433 CA5174991 |
498 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779307491 CA5174989 |
500 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756159400 CA5174985 |
505 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5174983 rs767487606 |
506 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417134412 CA374427627 |
506 | L>H | No |
ClinGen TOPMed |
|
|
CA197540445 rs767487606 |
506 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456745710 CA374427589 |
511 | E>D | No |
ClinGen gnomAD |
|
|
CA374427555 rs1451126639 |
517 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1246076770 CA374427546 |
518 | S>N | No |
ClinGen gnomAD |
|
|
rs1207551249 CA374427482 |
524 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA374427474 rs1207551249 |
524 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 526 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367843785 CA374427427 |
527 | V>A | No |
ClinGen gnomAD |
|
|
CA374427415 rs1185699166 |
528 | I>T | No |
ClinGen TOPMed |
|
|
CA374427393 rs1435087122 |
529 | H>Q | No |
ClinGen gnomAD |
|
|
rs773725155 CA197540388 |
530 | H>R | No |
ClinGen gnomAD |
|
|
CA374427374 rs1564092005 |
531 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 532 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197540377 rs987026487 |
534 | A>D | No |
ClinGen TOPMed |
|
|
rs200170465 CA197540372 |
535 | S>P | No |
ClinGen 1000Genomes |
|
|
rs1168749657 CA374427286 |
536 | S>P | No |
ClinGen gnomAD |
|
|
rs1388151143 CA374427241 |
538 | M>K | No |
ClinGen gnomAD |
|
|
CA374427245 rs1564091969 |
538 | M>V | No |
ClinGen Ensembl |
|
|
rs1454606212 CA374427204 |
539 | D>G | No |
ClinGen gnomAD |
|
|
CA374427202 rs1454606212 |
539 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 540 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5174968 rs778254283 |
540 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA374427157 rs1450571045 |
541 | E>G | No |
ClinGen gnomAD |
|
|
rs1196070285 COSM455113 CA374427165 |
541 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1250751801 CA374427138 |
542 | H>N | No |
ClinGen gnomAD |
|
|
CA5174967 rs756707486 |
543 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374427053 rs1344743355 |
544 | Q>P | No |
ClinGen gnomAD |
|
|
CA5174966 rs748586071 |
546 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780430327 CA5174940 |
548 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs895668701 CA197538866 |
549 | S>P | No |
ClinGen TOPMed |
|
|
rs539141671 CA5174938 |
550 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5174937 rs539141671 |
550 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139891858 CA5174936 |
552 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376515761 CA374426118 |
553 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1363152563 CA374426089 |
555 | G>A | No |
ClinGen gnomAD |
|
|
rs765859547 CA5174932 |
556 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs765859547 CA5174931 |
556 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA374426069 rs1210621548 |
557 | I>M | No |
ClinGen gnomAD |
|
|
COSM1459198 rs762639892 CA5174930 |
557 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772705478 CA5174929 |
558 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174928 rs150638391 |
559 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374426061 rs150638391 |
559 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374426059 rs1229160499 |
559 | S>T | No |
ClinGen gnomAD |
|
|
CA5174927 rs372706811 |
561 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174926 rs777206524 |
561 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041875977 CA197538842 |
562 | C>* | No |
ClinGen TOPMed |
|
|
CA197538844 rs910815351 |
562 | C>F | No |
ClinGen TOPMed |
|
|
rs141915722 CA197538839 |
565 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA374426004 rs1322507539 |
567 | K>N | No |
ClinGen gnomAD |
|
|
CA374425987 rs886063348 |
570 | V>A | No |
ClinGen gnomAD |
|
|
CA5174922 rs56229130 |
576 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755964054 CA5174919 |
581 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374425912 rs1249155076 |
582 | L>I | No |
ClinGen gnomAD |
|
|
RCV001228339 rs1828866977 |
585 | S>* | No |
ClinVar dbSNP |
|
|
rs772313194 CA5174905 |
587 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA374425846 rs1244617140 |
590 | I>M | No |
ClinGen gnomAD |
|
|
CA374425833 rs1191794886 |
592 | P>L | No |
ClinGen gnomAD |
|
|
rs376596678 CA197538525 |
592 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376596678 CA374425837 |
592 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs558694110 CA5174901 |
595 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5174898 rs533780607 |
597 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369627815 CA374425645 |
602 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764797085 CA5174892 |
604 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5174890 rs146077661 |
607 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434963101 CA374425546 |
610 | T>A | No |
ClinGen gnomAD |
|
|
RCV001304626 CA197538479 rs1034282177 |
610 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1459196 CA374425537 rs1198964450 |
611 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5174886 rs141324198 |
613 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868435986 CA197538468 |
613 | A>V | No |
ClinGen Ensembl |
|
|
rs568478937 CA5174884 |
614 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1256490426 CA374425479 |
615 | I>T | No |
ClinGen gnomAD |
|
|
CA374425484 rs1175409013 |
615 | I>V | No |
ClinGen TOPMed |
|
|
rs371941072 CA5174883 |
616 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174864 rs555979688 |
619 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374425147 rs1208768726 |
619 | E>Q | No |
ClinGen gnomAD |
|
|
CA5174861 rs762016978 |
621 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA374425032 rs1313801879 |
622 | L>V | No |
ClinGen gnomAD |
|
|
CA5174860 rs150819862 |
623 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174859 rs202085601 |
626 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 627 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374424874 rs1457812727 |
629 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1038922476 CA197537767 |
631 | F>L | No |
ClinGen Ensembl |
|
|
rs1453239599 CA374424817 |
631 | F>L | No |
ClinGen gnomAD |
|
|
rs1214674980 CA374424776 |
633 | N>S | No |
ClinGen TOPMed |
|
|
rs770370611 CA5174857 |
635 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384443720 CA374424631 |
637 | V>I | No |
ClinGen gnomAD |
|
|
rs1451184045 CA374424612 |
638 | A>T | No |
ClinGen gnomAD |
|
|
CA5174834 rs142265393 |
641 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374424517 rs1371566738 |
643 | S>* | No |
ClinGen gnomAD |
|
|
rs561889226 CA197537665 |
647 | Y>H | No |
ClinGen 1000Genomes |
|
|
rs765342029 CA5174830 |
648 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1564088262 CA374424370 |
649 | E>D | No |
ClinGen Ensembl |
|
|
CA197537660 rs201520655 |
649 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 650 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374424284 rs1344875419 |
652 | L>F | No |
ClinGen gnomAD |
|
|
rs530574306 CA197537650 |
655 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs530574306 CA374424219 |
655 | T>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1403412003 CA374424165 |
657 | S>P | No |
ClinGen gnomAD |
|
|
CA5174826 rs200117008 |
659 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5174824 rs763036149 |
661 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 664 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5174823 rs762636526 |
664 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776151340 CA5174820 |
667 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs747601216 CA5174821 |
667 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs369164780 CA5174819 |
668 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374423928 rs1587896788 RCV001383399 |
669 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs537930129 CA5174793 |
676 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374423549 rs1210683221 |
677 | L>R | No |
ClinGen gnomAD |
|
|
CA5174790 rs752982596 |
678 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1587895234 RCV000793731 |
679 | S>missing | No |
ClinVar dbSNP |
|
|
rs1828727895 RCV001350938 |
679 | S>N | No |
ClinVar dbSNP |
|
|
rs1358262361 CA374423528 |
680 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1312815600 CA374423521 |
681 | H>P | No |
ClinGen gnomAD |
|
|
rs1564087076 CA374423511 |
682 | V>G | No |
ClinGen Ensembl |
|
|
rs1245240190 CA374423516 COSM1132628 |
682 | V>M | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA197536995 rs1004295863 |
683 | S>P | No |
ClinGen TOPMed |
|
|
CA5174789 rs570649293 |
684 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1428069735 CA374423483 |
687 | V>I | No |
ClinGen gnomAD |
|
|
rs758269537 CA5174788 |
688 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374423475 rs1258464383 |
688 | L>P | No |
ClinGen TOPMed |
|
|
rs201742754 CA5174786 COSM201108 |
689 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753686703 CA5174784 |
691 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763692410 CA5174782 |
693 | R>W | No |
ClinGen ExAC |
|
| TCGA novel | 695 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394596658 CA374423433 |
695 | S>L | No |
ClinGen gnomAD |
|
|
CA5174777 rs369663142 |
697 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197536947 rs148769518 |
699 | T>A | No |
ClinGen ESP |
|
|
rs1479251755 CA374423405 |
701 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5174774 rs778089058 |
702 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749844611 CA5174775 |
702 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 703 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374423388 rs1394398830 |
703 | Q>R | No |
ClinGen TOPMed |
|
|
rs1342728475 CA374423367 |
705 | T>A | No |
ClinGen gnomAD |
|
|
rs769927115 CA5174773 |
707 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769927115 CA374423338 |
707 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460282387 CA374423308 |
710 | Q>* | No |
ClinGen TOPMed |
|
|
CA374423300 rs1275065654 |
710 | Q>R | No |
ClinGen gnomAD |
|
|
CA5174759 rs752272003 |
712 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA197536682 rs1049350751 |
715 | N>S | No |
ClinGen Ensembl |
|
|
CA5174758 rs767003999 |
716 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5174756 rs773965863 |
718 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs773965863 CA5174757 |
718 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs952814837 CA197536677 |
719 | V>I | No |
ClinGen TOPMed |
|
|
rs138076464 CA5174754 |
720 | H>L | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 720 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300413546 CA374423128 COSM1701499 |
721 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA374423114 rs1460858565 |
722 | R>* | No |
ClinGen gnomAD |
|
|
CA5174752 rs150005243 |
724 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174750 rs748672764 |
727 | A>V | No |
ClinGen ExAC |
|
|
rs899854364 CA197536623 |
729 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375967301 CA5174749 |
730 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374422958 rs1472790743 |
733 | L>S | No |
ClinGen gnomAD |
|
|
CA374422284 rs1311467461 |
736 | L>F | No |
ClinGen Ensembl |
|
|
rs1248893276 CA374422222 |
741 | A>G | No |
ClinGen gnomAD |
|
|
CA374422218 RCV001313665 rs1564085701 |
742 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA374422214 rs772250912 |
742 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs772250912 CA5174727 |
742 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA374422180 rs1435868507 |
745 | M>T | No |
ClinGen gnomAD |
|
|
rs1387458399 CA374422170 |
746 | R>K | No |
ClinGen gnomAD |
|
|
rs777480840 CA5174725 |
747 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA374422142 rs1452809051 |
749 | R>K | No |
ClinGen gnomAD |
|
|
rs1471306333 CA374422134 |
750 | I>V | No |
ClinGen TOPMed |
|
|
rs369421634 CA197534035 |
751 | N>S | No |
ClinGen ESP gnomAD |
|
|
rs182287137 CA5174724 |
752 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA197534028 rs201601641 |
753 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1188684991 CA374422094 |
754 | L>M | No |
ClinGen gnomAD |
|
|
RCV001040845 rs1828651198 |
756 | Y>* | No |
ClinVar dbSNP |
|
|
rs754484472 CA5174721 |
756 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375290469 CA197534026 |
756 | Y>H | No |
ClinGen ESP TOPMed |
|
|
rs765897393 CA5174719 |
759 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 760 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1003255472 CA197534018 RCV001304312 |
761 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA374421970 rs146338880 |
762 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374421943 rs1402894235 |
764 | L>R | No |
ClinGen gnomAD |
|
|
CA197533929 rs2230792 |
765 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA197533923 rs908734242 |
767 | V>M | No |
ClinGen Ensembl |
|
|
CA374421905 rs1411651705 |
768 | E>D | No |
ClinGen gnomAD |
|
|
CA374421900 rs1363023260 |
769 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1007256726 CA197533918 |
769 | T>I | No |
ClinGen TOPMed |
|
|
CA374421883 rs1159912520 |
770 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374421880 rs1419843948 |
771 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA374421882 rs1419843948 |
771 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1370184609 CA374421848 |
774 | I>L | No |
ClinGen TOPMed |
|
|
CA374421828 rs1447890613 |
776 | S>T | No |
ClinGen TOPMed |
|
|
rs544471248 CA5174694 |
780 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA197533912 rs1051376375 |
780 | I>V | No |
ClinGen TOPMed |
|
|
CA5174693 rs753219591 |
782 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5174691 rs759616135 |
784 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5174692 rs767528527 |
784 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1324308503 CA374421737 |
785 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1324308503 CA374421735 |
785 | T>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 785 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 786 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384891650 CA374421632 |
788 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA374421704 rs1265243953 |
788 | K>R | No |
ClinGen gnomAD |
|
|
rs772114554 CA197533322 |
790 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477728054 CA374421566 |
791 | D>E | No |
ClinGen TOPMed |
|
|
rs532550445 CA5174659 |
791 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5174660 rs532550445 |
791 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5174657 rs748982820 |
792 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA374421501 rs748482757 |
796 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377728941 CA5174653 |
796 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374421477 rs1181862976 |
797 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 798 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242931068 CA374421457 |
799 | A>S | No |
ClinGen gnomAD |
|
|
CA374421446 rs1402544707 |
800 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 800 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751976438 CA5174651 |
802 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866274296 CA197533265 |
804 | S>N | No |
ClinGen Ensembl |
|
|
rs1564084435 CA374421396 |
805 | V>A | No |
ClinGen Ensembl |
|
|
CA5174649 rs758422556 |
808 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA374421359 rs1361555927 |
809 | R>G | No |
ClinGen gnomAD |
|
|
CA5174648 rs750655614 |
810 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA374421321 rs765376716 |
811 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765376716 CA5174647 |
811 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs528801644 CA5174645 |
813 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374421238 rs1211909830 |
815 | K>R | No |
ClinGen TOPMed |
|
|
CA374421195 rs1342930158 |
817 | D>E | No |
ClinGen gnomAD |
|
|
CA5174644 rs759559373 |
818 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899198470 CA197533230 |
821 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5174641 rs748753813 |
822 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5174640 rs773007237 |
823 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs769539986 CA5174639 |
824 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1262707190 CA374421049 |
826 | V>I | No |
ClinGen gnomAD |
|
|
rs781660225 CA5174637 |
827 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 828 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197533205 rs761694499 |
829 | S>I | No |
ClinGen gnomAD |
|
|
CA374420970 rs761694499 |
829 | S>N | No |
ClinGen gnomAD |
|
|
rs1289518183 CA374420955 |
830 | I>V | No |
ClinGen gnomAD |
|
|
rs201714373 CA374420897 |
833 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA197533186 rs1007814986 |
833 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1564084140 CA374420808 RCV001380960 |
835 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1265217196 CA374420823 |
835 | Y>H | No |
ClinGen gnomAD |
|
|
rs746343046 CA5174614 |
837 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1175136606 CA374420694 |
841 | T>A | No |
ClinGen gnomAD |
|
|
rs1419407069 CA374420674 |
841 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374420684 rs1419407069 |
841 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5174611 rs754119022 |
844 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5174610 rs777787704 |
845 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754831109 CA5174609 |
846 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5174606 rs34550675 |
849 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750340284 CA5174605 |
849 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34550675 CA374420515 |
849 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174603 rs142186193 |
856 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142186193 CA374420390 |
856 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226691975 CA374420341 |
859 | H>R | No |
ClinGen TOPMed |
|
|
CA5174602 rs776360931 |
859 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199796698 CA5174599 |
860 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374420298 rs563636288 |
862 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174597 rs563636288 |
862 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327824630 CA374420187 |
864 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1463755265 CA374420167 |
866 | P>S | No |
ClinGen gnomAD |
|
|
CA5174573 rs769949254 |
868 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781499664 CA5174571 |
869 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5174572 rs748414921 |
869 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174570 rs758283605 |
870 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758283605 CA374420123 |
870 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374420112 rs1373139422 |
871 | A>G | No |
ClinGen TOPMed |
|
|
rs1345834711 CA374420115 |
871 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 878 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs180790273 CA5174567 |
880 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753791141 CA5174566 |
883 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs755579189 CA5174564 |
885 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169441555 CA374419964 |
885 | V>I | No |
ClinGen gnomAD |
|
|
rs1270126477 CA374419953 |
886 | D>V | No |
ClinGen gnomAD |
|
|
CA5174563 rs752349406 |
888 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5174562 rs373837396 |
891 | Y>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5174560 rs199679232 |
898 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374419840 rs1341492364 |
901 | D>N | No |
ClinGen gnomAD |
|
|
CA197532849 rs953533643 |
904 | L>R | No |
ClinGen TOPMed |
|
|
rs1218321803 CA374419781 |
907 | A>T | No |
ClinGen gnomAD |
|
|
rs1324519014 CA374419770 |
908 | E>K | No |
ClinGen gnomAD |
|
|
rs1285011372 CA374419727 |
912 | K>* | No |
ClinGen gnomAD |
|
|
CA374419202 rs1358495520 |
913 | D>V | No |
ClinGen TOPMed |
|
|
rs749213608 CA5174546 |
915 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1426434141 CA374419166 |
915 | K>N | No |
ClinGen TOPMed |
|
|
rs777619468 CA5174545 |
916 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374419132 rs1407873204 |
917 | Y>C | No |
ClinGen gnomAD |
|
|
rs1564082052 CA374419140 |
917 | Y>H | No |
ClinGen Ensembl |
|
|
rs540615950 CA197531491 |
921 | L>F | No |
ClinGen Ensembl |
|
|
rs1330283788 CA374419041 |
923 | T>I | No |
ClinGen TOPMed |
|
|
CA374418999 rs1442136727 |
927 | M>R | No |
ClinGen gnomAD |
|
|
CA374419000 rs1442136727 |
927 | M>T | No |
ClinGen gnomAD |
|
|
rs766689615 CA5174539 |
932 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs750983215 CA5174537 |
933 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174533 rs145484092 |
935 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439801646 CA374418886 |
937 | D>E | No |
ClinGen TOPMed |
|
|
CA5174530 rs770634206 |
937 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 938 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992252304 CA197531447 |
939 | Y>H | No |
ClinGen Ensembl |
|
|
CA5174527 rs149845612 |
942 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA197531417 rs924119518 |
943 | Y>C | No |
ClinGen Ensembl |
|
|
rs1319436059 CA374418830 |
943 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA374418832 rs1319436059 |
943 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA197531403 rs978773866 |
951 | S>T | No |
ClinGen TOPMed |
|
|
rs2230798 CA5174522 |
952 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765668014 CA5174520 |
953 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA5174519 rs765668014 |
953 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1472616915 CA374418707 |
954 | G>* | No |
ClinGen gnomAD |
|
|
rs1422732923 CA374418627 |
955 | P>S | No |
ClinGen gnomAD |
|
|
rs1587886924 CA374418557 |
959 | P>L | No |
ClinGen Ensembl |
|
|
CA5174501 rs757656007 |
967 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1220214305 CA374418417 |
968 | K>E | No |
ClinGen gnomAD |
|
|
CA197530923 rs1003549159 |
969 | N>D | No |
ClinGen Ensembl |
|
|
rs1312848493 CA374418352 |
971 | Y>* | No |
ClinGen TOPMed |
|
|
CA197530890 rs902510567 |
971 | Y>C | No |
ClinGen Ensembl |
|
|
COSM1103679 rs767461304 CA5174495 |
973 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774504340 CA5174493 |
974 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 974 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435854424 CA374418281 |
978 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 980 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374418255 rs1278748548 |
980 | P>S | No |
ClinGen TOPMed |
|
|
CA197530830 rs187975522 |
981 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA197530824 rs568425709 |
984 | Q>* | No |
ClinGen Ensembl |
|
|
CA5174471 rs760684727 |
987 | D>N | No |
ClinGen ExAC |
|
|
CA5174470 rs775251575 |
990 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372723869 CA5174469 |
992 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174468 rs372723869 |
992 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA197530098 rs201873298 |
993 | G>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 993 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1047908624 CA197530095 |
995 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770772147 CA5174466 |
997 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288718353 CA374417249 |
999 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA374417265 rs1355083059 |
999 | E>K | No |
ClinGen gnomAD |
|
|
rs144959233 CA374417218 |
1001 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1195212153 CA374417229 |
1001 | M>V | No |
ClinGen TOPMed |
|
|
rs778246908 CA5174464 |
1002 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374417196 rs778246908 |
1002 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398063965 CA374417186 |
1003 | E>Q | No |
ClinGen gnomAD |
|
|
CA374417165 rs1377217537 |
1004 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1007 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA5174457 rs758670783 |
1008 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC |
|
CA5174459 rs751707171 |
1008 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA5174458 rs780079514 |
1008 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA374417093 rs751707171 |
1008 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs750563722 CA5174456 |
1009 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174452 rs767619903 |
1012 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs868601119 CA197530030 |
1016 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770211449 CA5174446 |
1017 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1422315058 CA374416911 |
1018 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1019 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5174445 rs748522415 |
1019 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5174439 rs547319456 |
1025 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374416727 rs778943416 |
1027 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5174437 rs757486866 |
1029 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA374416590 rs1478593499 |
1031 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA197529990 rs774427341 |
1032 | L>F | No |
ClinGen Ensembl |
|
|
CA197529979 rs767388738 |
1033 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174435 rs767388738 |
1033 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146319455 CA197529965 |
1034 | V>E | No |
ClinGen ESP |
|
|
CA374416486 rs1211729866 |
1035 | A>V | No |
ClinGen gnomAD |
|
|
CA5174431 rs766016072 RCV001340875 |
1036 | A>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5174432 rs751489413 |
1036 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs751489413 CA374416474 |
1036 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA374416440 rs1587884793 |
1037 | Q>P | No |
ClinGen Ensembl |
|
|
rs1219540457 CA374416403 |
1038 | L>P | No |
ClinGen gnomAD |
|
|
CA197529906 rs1032844917 |
1040 | F>C | No |
ClinGen TOPMed |
|
|
CA374416275 rs1355295793 |
1042 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374416219 rs1217750168 |
1044 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1045 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374416177 rs1331635473 |
1046 | V>L | No |
ClinGen gnomAD |
|
|
CA374416088 rs1564079947 |
1049 | G>D | No |
ClinGen Ensembl |
|
|
CA5174427 rs761500263 |
1049 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174426 rs528454527 |
1050 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000396196 CA5174424 rs747546817 |
1051 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA374415004 rs1370476500 |
1057 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374414998 rs1236583859 |
1058 | E>K | No |
ClinGen gnomAD |
|
|
rs1828239449 RCV001217430 |
1059 | Q>* | No |
ClinVar dbSNP |
|
|
rs1306996262 CA374414972 |
1060 | R>W | No |
ClinGen TOPMed |
|
|
CA5174396 rs754831171 |
1063 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174395 rs746871379 |
1064 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs143091867 CA197528440 |
1067 | M>I | No |
ClinGen TOPMed |
|
|
rs750330348 CA5174392 |
1069 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs376878918 CA5174390 |
1070 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174391 rs778318147 |
1070 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753041406 CA374414827 |
1072 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3204145 CA5174388 |
1072 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753041406 CA5174386 |
1072 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759982706 CA5174384 |
1074 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1827955472 RCV001056055 |
1075 | D>G | No |
ClinVar dbSNP |
|
|
rs1299171036 CA374413714 |
1079 | A>T | No |
ClinGen gnomAD |
|
|
rs1359152552 CA374413693 |
1080 | V>A | No |
ClinGen gnomAD |
|
|
rs1317760242 CA374413684 |
1081 | L>V | No |
ClinGen gnomAD |
|
|
CA374413655 CA5174366 rs767800484 |
1082 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374413653 rs1416245963 |
1083 | L>V | No |
ClinGen gnomAD |
|
|
rs1397495556 CA374413634 |
1084 | L>V | No |
ClinGen Ensembl |
|
|
CA197522447 rs61749203 |
1087 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174363 rs763526417 |
1088 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763526417 CA5174362 |
1088 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763526417 CA197522437 |
1088 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197522426 rs560928595 |
1091 | E>D | No |
ClinGen 1000Genomes |
|
|
CA374413488 rs1587875300 |
1092 | A>T | No |
ClinGen Ensembl |
|
|
CA374413452 rs1194896823 |
1093 | L>F | No |
ClinGen TOPMed |
|
|
rs374434020 CA197522405 |
1095 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA374413420 rs374434020 |
1095 | L>R | No |
ClinGen ESP TOPMed |
|
|
CA197522407 rs150595103 |
1095 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5174349 rs754571065 |
1096 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA197522215 rs924743948 |
1097 | Y>* | No |
ClinGen Ensembl |
|
|
rs752025820 CA5174348 |
1098 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455391652 CA374413282 |
1099 | Y>C | No |
ClinGen TOPMed |
|
|
rs758999777 CA5174346 |
1100 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA374413250 rs1157289563 |
1101 | R>K | No |
ClinGen TOPMed |
|
|
rs1370321841 CA374413231 |
1102 | L>Q | No |
ClinGen gnomAD |
|
|
rs1140075 CA197522208 |
1103 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs764473283 CA197522191 |
1105 | I>T | No |
ClinGen Ensembl |
|
|
CA374413132 rs1377950183 |
1108 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374413133 rs1377950183 |
1108 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374413083 rs1192488638 |
1113 | I>T | No |
ClinGen gnomAD |
|
|
rs763262745 COSM1727176 CA5174341 |
1113 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA197522172 rs906880093 |
1115 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 1120 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197520890 rs910335280 |
1121 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1587873279 CA374412515 |
1125 | D>A | No |
ClinGen Ensembl |
|
|
rs1587873265 CA374412462 |
1128 | T>P | No |
ClinGen Ensembl |
|
|
rs1229825513 CA374412396 |
1132 | S>G | No |
ClinGen gnomAD |
|
|
rs143580972 CA5174318 |
1133 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5174319 rs143580972 |
1133 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769833448 CA5174316 |
1135 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1138 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1459190 rs768015419 CA5174313 |
1142 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5174312 rs746668947 |
1142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197520792 rs560506429 |
1148 | A>V | No |
ClinGen Ensembl |
|
|
CA374412105 rs1328479125 |
1150 | Q>E | No |
ClinGen TOPMed |
|
|
CA374412001 rs1331526630 |
1155 | D>G | No |
ClinGen gnomAD |
|
|
rs1236050758 CA374411986 |
1156 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs763943577 CA197520429 |
1157 | V>E | No |
ClinGen Ensembl |
|
|
rs763943577 CA374411978 |
1157 | V>G | No |
ClinGen Ensembl |
|
|
CA197520427 rs1021245588 |
1158 | P>S | No |
ClinGen Ensembl |
|
|
CA5174284 rs755240124 |
1159 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs996237420 CA197520409 |
1160 | G>E | No |
ClinGen Ensembl |
|
|
CA374411940 rs1178343860 |
1161 | Q>R | No |
ClinGen gnomAD |
|
|
rs1252450233 CA374411931 |
1162 | E>K | No |
ClinGen gnomAD |
|
|
CA374411914 rs1459244306 |
1163 | S>* | No |
ClinGen gnomAD |
|
|
rs1587872506 CA374411918 |
1163 | S>A | No |
ClinGen Ensembl |
|
|
rs1198624688 CA374411910 |
1164 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA374411909 rs1198624688 |
1164 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs761461883 CA5174280 |
1164 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1198624688 CA374411911 |
1164 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs144301886 CA374411895 |
1165 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764005359 CA5174278 |
1166 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA374411874 rs1346607644 |
1167 | S>Y | No |
ClinGen gnomAD |
|
|
CA374411850 rs1309333270 |
1169 | T>I | No |
ClinGen gnomAD |
|
|
rs760659024 CA5174277 |
1170 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374411837 rs1289493938 |
1170 | S>R | No |
ClinGen TOPMed |
|
|
CA5174276 rs775190677 |
1171 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA374411813 CA5174273 rs771339771 |
1173 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771339771 CA5174272 COSM1459189 |
1173 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA197520356 rs143008686 |
1174 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1587872425 CA374411766 |
1176 | S>R | No |
ClinGen Ensembl |
|
|
CA197520350 rs149585292 |
1177 | E>D | No |
ClinGen Ensembl |
|
|
rs200543069 CA197520351 |
1177 | E>G | No |
ClinGen Ensembl |
|
|
CA5174269 rs367582146 |
1181 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374411645 rs1441814020 |
1183 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA374411649 rs1441814020 |
1183 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs748630171 CA5174268 |
1185 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1180833917 CA374411599 |
1186 | N>K | No |
ClinGen gnomAD |
|
|
CA5174266 rs754986873 |
1188 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1191 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780202201 CA374411530 |
1191 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5174264 rs780202201 |
1191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA197520270 rs930566431 |
1191 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs897006383 CA197519698 |
1195 | K>R | No |
ClinGen TOPMed |
|
|
CA374411461 rs1564071274 |
1196 | N>D | No |
ClinGen Ensembl |
|
|
rs370450007 CA5174238 |
1197 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886063345 CA197519691 |
1197 | R>L | No |
ClinGen gnomAD |
|
|
CA5174236 rs200322331 |
1198 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762224071 CA5174234 |
1199 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1827797013 RCV001039039 |
1199 | K>N | No |
ClinVar dbSNP |
|
|
rs776976107 CA5174233 |
1200 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1103674 rs775458140 CA5174230 |
1202 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772153288 CA5174229 |
1203 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA374411413 rs1364384644 |
1204 | K>N | No |
ClinGen TOPMed |
|
|
rs922561917 CA197519656 |
1204 | K>R | No |
ClinGen TOPMed |
|
|
CA374411403 rs1269703646 |
1206 | S>G | No |
ClinGen gnomAD |
|
|
CA374411386 rs1437222998 |
1208 | K>R | No |
ClinGen gnomAD |
|
|
rs1157374350 CA374411382 |
1209 | E>K | No |
ClinGen TOPMed |
|
|
rs1367926130 CA374411363 |
1211 | S>N | No |
ClinGen TOPMed |
|
|
rs200009363 CA5174228 |
1212 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197519651 rs200009363 |
1212 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1802207 CA197519649 |
1213 | L>M | No |
ClinGen Ensembl |
|
|
rs781102903 CA5174224 |
1215 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5174222 rs754920127 |
1218 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455139749 CA374411275 |
1221 | A>V | No |
ClinGen gnomAD |
|
|
rs751463861 CA5174221 |
1222 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374411257 rs1192681197 |
1223 | S>N | No |
ClinGen gnomAD |
|
|
rs779459585 CA5174220 |
1224 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA374411175 rs1220313076 |
1229 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5174218 rs749922418 |
1229 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197519572 rs926211121 |
1230 | E>G | No |
ClinGen TOPMed |
|
|
CA374410848 rs1299499511 |
1236 | V>L | No |
ClinGen gnomAD |
|
|
rs1564070677 CA374410838 |
1237 | Y>* | No |
ClinGen Ensembl |
|
|
CA374410840 rs1358464947 |
1237 | Y>C | No |
ClinGen TOPMed |
|
|
CA374410832 rs1426290197 |
1238 | H>R | No |
ClinGen TOPMed |
|
|
CA374410827 rs1407768469 |
1239 | I>V | No |
ClinGen gnomAD |
|
|
CA374410808 rs1303478733 |
1241 | K>N | No |
ClinGen TOPMed |
|
|
CA374410799 rs1189046458 |
1243 | L>F | No |
ClinGen gnomAD |
|
|
rs778376709 CA5174200 |
1243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5174198 rs753451741 |
1245 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA5174197 rs764373685 |
1246 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756441006 CA5174196 |
1247 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA589603326 rs1213973640 |
1247 | E>SKII* | No |
ClinGen gnomAD |
|
|
CA918531357 rs1587870837 |
1248 | F>L | No |
ClinGen Ensembl |
|
|
rs752988049 CA5174195 |
1248 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs75395135 CA197519270 |
1249 | D>A | No |
ClinGen Ensembl |
|
|
CA374410755 rs1587870823 |
1250 | E>K | No |
ClinGen Ensembl |
|
|
rs1234851458 CA374410739 COSM486877 |
1252 | G>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774622315 CA5174192 |
1254 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA374410706 rs1286580501 |
1257 | K>E | No |
ClinGen gnomAD |
|
|
CA197519233 rs778170450 |
1257 | K>T | No |
ClinGen Ensembl |
|
|
CA5174190 rs763298552 |
1258 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5174189 rs773500103 |
1260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA374410669 rs199723919 |
1262 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374410640 rs1429610797 |
1266 | M>I | No |
ClinGen gnomAD |
|
|
CA5174184 rs372773763 |
1271 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1273 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543759021 CA5174182 |
1274 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5174181 rs576438853 |
1275 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5174180 rs777536646 |
1276 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767751268 CA5174177 |
1277 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5174178 rs753141812 |
1277 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5174175 rs752071786 |
1279 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA374410543 rs1163986312 |
1281 | N>S | No |
ClinGen TOPMed |
|
|
rs766569938 CA5174174 |
1282 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA374410530 rs1327576381 |
1283 | A>V | No |
ClinGen gnomAD |
|
|
CA197519181 rs749552737 |
1284 | T>A | No |
ClinGen Ensembl |
|
|
CA374410523 rs1438249652 |
1284 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1471265839 CA374410501 |
1286 | V>F | No |
ClinGen gnomAD |
|
|
rs1402616534 CA374410482 |
1289 | P>L | No |
ClinGen TOPMed |
|
|
CA5174148 rs767316416 |
1289 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374410481 rs1180779908 |
1290 | N>D | No |
ClinGen gnomAD |
|
|
RCV001045300 rs1827646757 |
1291 | S>C | No |
ClinVar dbSNP |
|
|
rs945633667 CA197517804 |
1292 | T>P | No |
ClinGen TOPMed |
|
|
CA374410459 rs1372282592 |
1293 | A>G | No |
ClinGen TOPMed |
|
|
rs770891146 CA5174145 |
1294 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197517769 rs989681376 |
1295 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1206579042 CA374410440 |
1296 | I>T | No |
ClinGen gnomAD |
|
|
rs769146127 CA5174142 |
1297 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374410429 rs1587867690 |
1298 | A>T | No |
ClinGen Ensembl |
|
|
CA374410424 rs1587867687 |
1298 | A>V | No |
ClinGen Ensembl |
|
|
CA5174141 rs747840196 |
1299 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs777103049 CA5174140 |
1300 | Y>* | No |
ClinGen ExAC |
|
|
CA197517752 rs1022019183 |
1301 | Q>E | No |
ClinGen Ensembl |
|
|
CA197517739 rs867431578 |
1303 | Q>H | No |
ClinGen Ensembl |
|
|
RCV001352166 CA374410392 rs1554737851 |
1303 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5174136 rs747419554 |
1307 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA374410366 rs747419554 |
1307 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5174135 rs750055987 |
1308 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA374410363 rs1410805331 |
1308 | P>S | No |
ClinGen TOPMed |
|
|
rs758997539 CA5174134 |
1309 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750858926 CA5174133 |
1310 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374410354 COSM161689 rs1234369777 |
1310 | L>V | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs746404029 CA5174115 |
1316 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1231640330 CA374409593 |
1317 | P>L | No |
ClinGen TOPMed |
|
|
rs757781758 CA5174113 |
1318 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5174112 rs749365565 |
1319 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370439847 CA197514843 |
1319 | K>M | No |
ClinGen ESP |
|
|
rs1216826175 CA374409535 |
1320 | I>T | No |
ClinGen gnomAD |
|
|
CA197514840 rs367795801 |
1321 | N>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA374409409 rs1373407345 |
1327 | K>Q | No |
ClinGen gnomAD |
|
|
rs756347891 CA5174110 |
1332 | D>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with O95163
[MIM: 223900]: Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. {ECO:0000269|PubMed:11179008, ECO:0000269|PubMed:11179021, ECO:0000269|PubMed:12687659}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. {ECO:0000269|PubMed:11179008, ECO:0000269|PubMed:11179021, ECO:0000269|PubMed:12687659}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O95163
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95163 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| elongator holoenzyme complex | A heterohexameric protein complex composed two discrete heterotrimeric subcomplexes that is involved in modification of wobble nucleosides in tRNA. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein self-association | Binding to a domain within the same polypeptide. |
| tRNA binding | Binding to a transfer RNA. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation | The process whereby a wobble base uridine residue in a tRNA is modified to 5-methoxycarbonylmethyl-2-thiouridine. |
| tRNA wobble uridine modification | The process in which a uridine in position 34 of a tRNA is post-transcriptionally modified. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRNLKLFRTL | EFRDIQGPGN | PQCFSLRTEQ | GTVLIGSEHG | LIEVDPVSRE | VKNEVSLVAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GFLPEDGSGR | IVGVQDLLDQ | ESVCVATASG | DVILCSLSTQ | QLECVGSVAS | GISVMSWSPD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QELVLLATGQ | QTLIMMTKDF | EPILEQQIHQ | DDFGESKFIT | VGWGRKETQF | HGSEGRQAAF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QMQMHESALP | WDDHRPQVTW | RGDGQFFAVS | VVCPETGARK | VRVWNREFAL | QSTSEPVAGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPALAWKPSG | SLIASTQDKP | NQQDIVFFEK | NGLLHGHFTL | PFLKDEVKVN | DLLWNADSSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LAVWLEDLQR | EESSIPKTCV | QLWTVGNYHW | YLKQSLSFST | CGKSKIVSLM | WDPVTPYRLH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLCQGWHYLA | YDWHWTTDRS | VGDNSSDLSN | VAVIDGNRVL | VTVFRQTVVP | PPMCTYQLLF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PHPVNQVTFL | AHPQKSNDLA | VLDASNQISV | YKCGDCPSAD | PTVKLGAVGG | SGFKVCLRTP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HLEKRYKIQF | ENNEDQDVNP | LKLGLLTWIE | EDVFLAVSHS | EFSPRSVIHH | LTAASSEMDE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EHGQLNVSSS | AAVDGVIISL | CCNSKTKSVV | LQLADGQIFK | YLWESPSLAI | KPWKNSGGFP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VRFPYPCTQT | ELAMIGEEEC | VLGLTDRCRF | FINDIEVASN | ITSFAVYDEF | LLLTTHSHTC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QCFCLRDASF | KTLQAGLSSN | HVSHGEVLRK | VERGSRIVTV | VPQDTKLVLQ | MPRGNLEVVH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HRALVLAQIR | KWLDKLMFKE | AFECMRKLRI | NLNLIYDHNP | KVFLGNVETF | IKQIDSVNHI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NLFFTELKEE | DVTKTMYPAP | VTSSVYLSRD | PDGNKIDLVC | DAMRAVMESI | NPHKYCLSIL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TSHVKKTTPE | LEIVLQKVHE | LQGNAPSDPD | AVSAEEALKY | LLHLVDVNEL | YDHSLGTYDF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DLVLMVAEKS | QKDPKEYLPF | LNTLKKMETN | YQRFTIDKYL | KRYEKAIGHL | SKCGPEYFPE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| CLNLIKDKNL | YNEALKLYSP | SSQQYQDISI | AYGEHLMQEH | MYEPAGLMFA | RCGAHEKALS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AFLTCGNWKQ | ALCVAAQLNF | TKDQLVGLGR | TLAGKLVEQR | KHIDAAMVLE | ECAQDYEEAV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LLLLEGAAWE | EALRLVYKYN | RLDIIETNVK | PSILEAQKNY | MAFLDSQTAT | FSRHKKRLLV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VRELKEQAQQ | AGLDDEVPHG | QESDLFSETS | SVVSGSEMSG | KYSHSNSRIS | ARSSKNRRKA |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ERKKHSLKEG | SPLEDLALLE | ALSEVVQNTE | NLKDEVYHIL | KVLFLFEFDE | QGRELQKAFE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| DTLQLMERSL | PEIWTLTYQQ | NSATPVLGPN | STANSIMASY | QQQKTSVPVL | DAELFIPPKI |
| 1330 | |||||
| NRRTQWKLSL | LD |