Q3SYG4
PR
Gene name |
BBS9 (PTHB1) |
Protein name |
Protein PTHB1 |
Names |
Bardet-Biedl syndrome 9 protein, Parathyroid hormone-responsive B1 gene protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27241 |
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
3 structures for Q3SYG4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4YD8 | X-ray | 180 A | A/B | 1-407 | PDB |
| 6XT9 | EM | 380 A | I | 1-887 | PDB |
| AF-Q3SYG4-F1 | Predicted | AlphaFoldDB |
773 variants for Q3SYG4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001299318 rs746345067 |
4 | F>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4213849 rs184994140 RCV001047188 RCV002481935 |
7 | R>C | Bardet-Biedl syndrome 9 Variant assessed as Somatic; 4.62e-05 impact. Bardet-Biedl syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002482082 RCV001064389 CA367189168 rs746340993 |
7 | R>L | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001351767 rs746340993 |
7 | R>P | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_051289 rs4498440 RCV000253697 CA4213853 RCV000317282 RCV001095207 |
12 | T>A | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001321260 rs1329996453 CA367189270 |
17 | K>E | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779638896 CA4213857 RCV002487721 RCV000804921 |
20 | F>V | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1792335317 RCV001345663 |
24 | C>Y | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208191 rs1792337794 |
28 | A>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000787794 rs1584179629 CA367190187 |
39 | K>E | Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000793644 rs145241295 CA4213886 |
46 | M>I | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777409972 CA4213888 RCV001210787 |
49 | L>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs756750359 RCV001230281 CA4213890 |
52 | F>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4213893 rs769256027 RCV001880048 RCV001262946 |
64 | Q>* | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001345336 CA156277522 rs375757123 |
69 | L>I | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771129780 CA4213899 RCV001309012 |
69 | L>P | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001251462 rs1384578916 RCV001879824 |
72 | V>missing | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4213903 RCV000256453 RCV000787795 rs775081992 |
75 | R>* | Bardet-Biedl syndrome Retinal vascular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4213908 rs766917697 RCV001307864 |
84 | G>E | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA236280 RCV000171406 RCV000256468 rs749974697 |
88 | S>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10629108 rs886062283 RCV000371965 |
91 | E>V | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548595 RCV002248767 rs747388658 |
104 | C>missing | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063674 rs1797497751 |
114 | N>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000286809 RCV002519506 CA10626025 rs886062284 |
129 | H>Y | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4213977 RCV001044232 RCV002479275 rs10255104 |
132 | Q>H | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs542324847 RCV001324310 CA156709871 |
132 | Q>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001237556 CA4213980 rs752108930 |
137 | N>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001267377 rs1797510907 |
138 | M>I | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137852857 RCV000002778 VAR_026389 CA252387 |
141 | G>R | Bardet-Biedl syndrome 9 BBS9; severe loss of protein stability, probably due to aberrant folding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001296335 CA4213982 rs144340890 RCV001074699 |
145 | G>S | Bardet-Biedl syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000432847 RCV002481321 rs372412756 CA4213983 RCV001861591 |
146 | V>I | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000626295 CA4214012 rs781174906 |
149 | R>* | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043980 rs1797227483 |
162 | M>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071281 rs776941068 CA4214038 |
189 | R>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001350937 rs1225416201 CA367253432 |
211 | A>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1562901016 RCV001242026 |
221 | E>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767766656 CA4214067 RCV001305358 |
221 | E>D | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA367253578 rs1317691865 RCV001302090 |
222 | T>I | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA367253605 RCV001242023 rs1562901214 |
226 | K>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202397 rs1798450904 |
230 | G>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562917450 CA367253957 RCV000735943 |
243 | E>K | Variant assessed as Somatic; impact. Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000223980 RCV001318226 CA4214100 rs140821420 RCV000341765 |
246 | L>F | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs577724923 RCV001038848 CA4214102 |
248 | I>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002509640 RCV002504363 rs1279852557 CA367254141 RCV001247432 |
254 | N>S | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs149790873 RCV002534733 RCV000803065 CA4214107 |
256 | S>L | Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309828 rs149790873 CA4214108 |
256 | S>W | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4214110 RCV001230564 rs149093988 |
260 | V>F | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000256397 rs886039875 CA10588927 |
262 | V>A | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs939805930 CA156719960 RCV001236720 |
268 | F>I | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000349311 RCV003105843 rs780367770 |
269 | F>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001074703 rs763742314 CA367254395 |
270 | C>F | Variant assessed as Somatic; impact. Retinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000701112 CA367254450 rs1264926096 RCV002485725 |
273 | D>G | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001327145 rs1800123284 |
277 | I>M | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001702081 rs767005321 RCV001061507 RCV001073836 COSM3431561 CA4214117 COSM3431560 |
278 | R>* | Variant assessed as Somatic; 4.623e-05 impact. large_intestine Bardet-Biedl syndrome Retinal dystrophy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001243221 CA4214148 RCV001760274 rs369647403 RCV002491812 |
310 | N>D | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001317515 rs533714503 |
313 | H>P | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002557392 CA4214149 rs533714503 RCV001163081 |
313 | H>R | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886039799 RCV000256419 |
319 | T>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001163082 CA4214153 rs377207430 RCV001062921 |
325 | Q>R | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4214156 rs370056161 RCV001305445 |
330 | P>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001163083 rs1815378459 |
351 | D>V | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA252388 RCV000002779 RCV003221780 RCV001002885 rs137852858 |
355 | Q>* | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042630 rs1815389952 |
368 | A>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4214190 RCV001036744 rs138436479 |
371 | V>A | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000347146 CA10623870 rs886062285 |
377 | N>S | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001262960 CA4214197 rs370729939 |
380 | E>* | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001242142 rs1030973947 CA156726917 RCV002504342 |
383 | V>I | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002499405 CA367255137 rs1312526837 RCV001242155 |
400 | G>D | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779666112 RCV002557414 CA4214219 RCV001165170 |
404 | M>V | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000205415 RCV001165173 RCV000082809 CA149643 RCV000709636 rs61764067 |
416 | V>M | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs751604593 RCV002497414 RCV001053620 |
417 | V>F | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751604593 RCV001208173 |
417 | V>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515021 RCV000204910 rs138072724 RCV000174426 RCV001095289 CA200975 |
427 | A>V | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4214251 RCV001058995 rs767170924 RCV002479357 |
431 | E>D | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140675013 CA4214254 RCV001857078 RCV000502842 RCV002481610 |
441 | T>M | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001320808 rs370631861 CA4214290 |
454 | K>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_051290 RCV001095135 RCV000390761 RCV000709663 RCV001709566 rs11773504 RCV000250416 CA4214291 |
455 | A>T | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762511626 RCV000199446 CA338649 |
457 | L>* | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762511626 RCV002499574 RCV001305117 CA367255521 |
457 | L>S | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA335980 RCV000195839 rs863224534 RCV002485317 |
475 | E>* | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1443035026 RCV001316427 RCV002493654 CA367255657 |
477 | M>I | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000466983 CA4214353 rs760084192 RCV002489088 RCV002525624 |
490 | Y>H | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765846163 RCV001214007 CA367256040 |
494 | S>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775868685 RCV001339099 CA4214355 |
494 | S>N | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000199717 RCV002485325 CA338815 rs369146555 |
496 | T>A | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002515522 rs139303948 CA348733 RCV000204506 RCV002494525 |
496 | T>I | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886062286 RCV000313433 CA10626026 |
512 | T>I | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000368161 RCV000709635 RCV001706406 RCV001095136 CA4214392 rs73688160 RCV000247367 |
516 | P>T | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001701442 RCV000791063 rs769669385 CA4214430 RCV001201677 |
520 | P>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061532 CA4214429 rs149730302 |
520 | P>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001235914 CA4214435 rs34218557 |
521 | R>P | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_051291 COSM279134 RCV000252330 COSM279133 RCV000301231 CA4214434 RCV000709634 rs34218557 RCV001095137 |
521 | R>Q | Bardet-Biedl syndrome 1 large_intestine Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000985132 COSM248988 CA367252135 rs1326810030 COSM248987 |
535 | C>Y | pancreas Bardet-Biedl syndrome 9 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA367252223 RCV001095754 rs1310602174 RCV002555976 |
549 | T>A | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001161656 RCV000175109 rs59252892 CA201299 RCV001081435 VAR_066292 RCV000419646 |
549 | T>I | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000625094 RCV000514864 COSM73814 rs150399299 RCV000175110 CA201301 RCV001084942 |
550 | I>V | Bardet-Biedl syndrome 1 ovary Bardet-Biedl syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228652 rs1819942366 |
557 | V>G | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1698524 CA4214480 rs537110423 RCV002504272 RCV001219140 COSM1698525 |
581 | H>Y | skin Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000256188 rs746797123 CA10588819 RCV002518770 |
587 | R>* | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001161657 COSM1089284 CA4214482 RCV001337362 COSM1089283 rs149042169 RCV001732056 |
587 | R>Q | endometrium Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000175254 rs143016114 CA240978 RCV001069518 |
590 | V>I | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000735941 RCV000002776 CA252384 rs137852856 |
598 | R>* | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002479354 RCV001058212 CA4214519 rs749018243 |
600 | R>H | Variant assessed as Somatic; 4.723e-05 impact. Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1584588488 RCV001037559 |
603 | S>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779536 rs1229015450 RCV001207839 |
604 | E>missing | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4214527 RCV001243323 rs752845007 RCV003166522 RCV002480818 |
612 | I>M | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324309 rs1825501129 |
614 | N>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370925964 RCV001349309 CA4214528 RCV002486435 |
615 | E>G | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs993175361 CA156731705 RCV001340327 |
615 | E>K | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001095211 RCV000261105 CA4214530 rs34209904 RCV000515058 RCV000252776 |
617 | I>L | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4214533 rs750412402 RCV001352281 |
619 | R>H | Variant assessed as Somatic; 0.0 impact. Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001095755 rs1302171532 |
624 | F>missing | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709632 rs606231137 RCV000433738 RCV000002781 RCV000614851 |
626 | K>missing | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4214538 RCV001161658 rs778505224 |
633 | A>T | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000316370 rs771777721 CA4214540 RCV002519507 |
637 | S>L | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761174142 RCV001300723 |
640 | I>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000392986 rs144112103 CA4214544 RCV001242482 |
640 | I>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060625 CA156731709 rs1048014676 |
643 | Q>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4214546 RCV001816581 RCV002529879 RCV000638364 rs201876934 |
650 | D>G | Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002467603 RCV000152847 rs116262072 CA179797 VAR_066293 RCV000463844 |
665 | L>F | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002559562 RCV001163182 CA4214579 rs746543061 |
678 | R>C | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4214582 RCV001038545 rs749841788 |
679 | R>W | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4214586 RCV001163183 rs772347593 |
682 | A>T | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000002777 rs587777810 |
683 | R>missing | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760800602 RCV001702095 RCV001299477 CA4214588 |
687 | K>E | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4214591 rs759571062 RCV001320494 |
691 | P>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752548438 CA4214593 RCV001201583 |
696 | D>E | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4214592 rs117543061 RCV001095245 RCV000322112 RCV001699394 |
696 | D>N | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002484099 RCV001203579 rs1274816953 CA367254255 |
700 | D>N | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001087341 COSM1329848 RCV003150969 RCV000175493 CA241249 COSM1329847 rs149362446 |
702 | T>N | ovary Bardet-Biedl syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001263422 rs1369313123 |
718 | G>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749948775 RCV001314379 CA4214619 RCV002476459 |
725 | T>I | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001314856 RCV002476461 rs1393453305 |
729 | S>N | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4214628 RCV001349724 COSM1089290 COSM1089289 rs369881355 |
739 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium Bardet-Biedl syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000709631 CA209597 RCV000195041 rs116483694 RCV001163185 RCV000625095 |
739 | A>V | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002544801 RCV000688143 rs1563271285 CA367256094 |
749 | V>L | Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001165275 RCV002521642 RCV001083313 CA4214639 rs61764068 RCV000417647 |
753 | E>V | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4214642 RCV001165276 RCV003159181 rs757754301 |
758 | P>L | Variant assessed as Somatic; 0.0 impact. Bardet-Biedl syndrome 9 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000638349 CA4214647 RCV002533213 rs140882212 |
765 | E>G | Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001770151 rs149668719 RCV003150977 RCV001095291 CA336220 RCV000196183 |
770 | E>G | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_066294 CA4214668 RCV003151001 RCV000514762 RCV001086797 rs142434516 |
779 | L>Q | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000243461 RCV001165277 RCV001085388 RCV000723782 CA242114 rs61753526 |
788 | S>F | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA367256821 rs1402083567 RCV002564112 RCV001246820 RCV002504361 |
789 | K>E | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4214672 RCV001340576 rs758968522 |
791 | Q>H | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774701632 RCV002484085 RCV001202522 CA4214674 |
794 | N>S | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000176242 RCV001038508 CA242116 RCV002517693 rs137993290 |
801 | I>M | Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886062288 CA10626030 RCV000292024 |
802 | P>S | Bardet-Biedl syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231547 CA4214681 RCV002484267 rs779871496 |
812 | I>F | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001339830 rs781476538 CA4214685 RCV002493745 |
817 | D>N | Variant assessed as Somatic; 0.0 impact. Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1851006563 RCV001347653 |
821 | K>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230528 rs1176589347 CA367257050 |
823 | G>D | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000862417 RCV000625096 CA4214693 RCV001165278 rs146752751 |
824 | R>C | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002522404 RCV001704442 RCV000695322 CA4214700 rs368704638 RCV001165279 |
830 | D>N | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1851012393 RCV001321891 |
831 | A>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859031 RCV001158559 rs771310981 CA4214704 |
837 | M>V | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219183 rs1864358642 |
861 | T>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA367256514 RCV001226931 rs1490049568 |
864 | F>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000288312 rs143963391 RCV001095141 CA4214740 |
865 | T>A | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA156756409 RCV001308687 rs938197989 |
869 | H>Y | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002481932 RCV001047034 rs755911247 CA4214745 |
875 | P>S | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000818670 RCV001585755 rs150826095 CA4214746 RCV002478911 |
878 | E>* | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223670 CA367256654 RCV002562585 rs1238854328 |
885 | V>A | Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA156756433 rs950624105 RCV001058055 RCV002497432 |
885 | V>F | Bardet-Biedl syndrome 9 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4213847 rs746345067 |
4 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1182260212 CA367189130 |
5 | K>N | No |
ClinGen gnomAD |
|
|
rs746340993 CA4213851 |
7 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4213850 rs184994140 |
7 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367189173 rs1427525818 |
8 | D>N | No |
ClinGen gnomAD |
|
|
CA367189182 rs1308528209 |
8 | D>V | No |
ClinGen TOPMed |
|
|
CA4213852 rs770310531 |
9 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA367189194 rs1175031170 |
10 | W>R | No |
ClinGen gnomAD |
|
|
rs4498440 CA367189208 |
12 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4213855 rs768869485 |
13 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1436396518 CA367189238 |
15 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4213856 rs774422808 |
19 | E>K | No |
ClinGen ExAC |
|
|
rs1434724719 CA367189341 |
20 | F>L | No |
ClinGen gnomAD |
|
|
CA367189364 rs1470489475 |
23 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750581462 CA4213859 |
26 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217447585 CA367189385 |
26 | C>Y | No |
ClinGen Ensembl |
|
|
rs1255525264 CA367189391 |
27 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4213860 rs760638472 |
30 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs766448677 CA4213861 |
32 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA367189434 rs1449724531 CA367189433 |
33 | S>R | No |
ClinGen gnomAD |
|
|
CA156274427 rs577536627 |
35 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367189451 rs1184452364 |
36 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4213864 rs778823074 |
37 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753701101 CA4213883 |
38 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381039813 CA367190215 |
41 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753930404 CA4213884 |
43 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764906719 CA4213885 |
43 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1028914924 CA156277380 |
46 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1028914924 CA367190247 |
46 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367190311 rs1488560000 |
55 | H>R | No |
ClinGen TOPMed |
|
|
CA156277410 rs1008748533 |
56 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367190322 rs1237680939 |
57 | A>T | No |
ClinGen gnomAD |
|
|
rs749727731 CA4213892 |
59 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367190349 rs749727731 |
59 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367190389 rs1265089322 |
63 | A>S | No |
ClinGen TOPMed |
|
|
COSM746094 rs769256027 COSM746095 CA4213894 |
64 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 65 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4213898 rs773577974 |
66 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4213897 rs773577974 |
66 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776811498 CA4213900 |
70 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4213901 rs376183075 |
71 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4213902 rs765240871 |
72 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367190479 rs765240871 |
72 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367190488 rs1453964109 |
73 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4213904 rs762752188 |
76 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367190530 rs1454089841 |
77 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA156277554 rs370508659 |
79 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4213906 rs751209650 |
83 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343006020 CA367190671 |
87 | V>A | No |
ClinGen gnomAD |
|
|
rs1255605179 CA367190662 |
87 | V>I | No |
ClinGen gnomAD |
|
|
CA4213909 rs749974697 |
88 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA156278982 rs923591528 |
89 | G>S | No |
ClinGen TOPMed |
|
|
COSM185856 CA4213934 rs541526329 COSM185855 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1053986865 CA156278985 |
92 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4213935 rs781491876 |
97 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244522464 CA367191114 |
100 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1244522464 CA367191115 |
100 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA367191117 rs1212458053 |
101 | R>G | No |
ClinGen gnomAD |
|
|
CA367191144 rs1337475758 |
103 | L>H | No |
ClinGen TOPMed |
|
|
rs1307561420 CA367191147 |
104 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399134427 CA367251769 |
110 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750627869 CA367251774 |
111 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750627869 CA4213966 |
111 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904098347 CA156709868 |
112 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367251786 rs1562741237 |
113 | G>V | No |
ClinGen Ensembl |
|
|
rs756343574 CA4213967 |
115 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA367251800 rs1335394532 |
116 | E>K | No |
ClinGen gnomAD |
|
|
CA4213968 rs780063415 |
117 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367251826 rs1162035621 |
119 | N>I | No |
ClinGen TOPMed |
|
|
CA4213969 rs749403663 |
120 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs768515615 CA4213970 |
121 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA367251837 rs768515615 |
121 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs556340713 CA4213972 |
124 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367251881 rs1177531768 CA367251880 |
126 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4213973 rs771893428 |
126 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4213975 rs760353562 |
130 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs74591112 CA156709870 |
132 | Q>K | No |
ClinGen Ensembl |
|
|
rs759120113 CA4213978 |
133 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375243042 CA156709872 |
133 | R>S | No |
ClinGen Ensembl |
|
|
CA367251931 rs1211754868 |
134 | T>A | No |
ClinGen TOPMed |
|
|
CA4213981 rs762267565 |
140 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA156709873 rs188817948 |
140 | Y>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA156709874 rs1023969420 |
143 | F>L | No |
ClinGen Ensembl |
|
|
CA4213984 rs545925422 |
148 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4213985 rs545925422 |
148 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1371853094 CA367252681 |
149 | R>Q | No |
ClinGen gnomAD |
|
|
CA4214014 rs769592818 |
150 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA367252714 rs1422430875 |
154 | I>L | No |
ClinGen TOPMed |
|
|
rs748755825 CA4214016 |
154 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367252715 rs1422430875 |
154 | I>V | No |
ClinGen TOPMed |
|
|
CA367252737 rs1315521717 |
157 | M>T | No |
ClinGen gnomAD |
|
|
rs148763093 CA4214018 |
157 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766695425 CA4214020 |
159 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488697955 CA367252776 |
162 | M>I | No |
ClinGen TOPMed |
|
|
rs1583917876 CA367252781 |
163 | V>G | No |
ClinGen Ensembl |
|
|
rs765408140 CA4214023 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4214024 rs752753753 |
165 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs758419730 CA4214025 |
165 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA367252797 rs1204664319 |
166 | Q>E | No |
ClinGen gnomAD |
|
|
rs1158893380 CA367252813 |
168 | S>G | No |
ClinGen gnomAD |
|
|
rs942758963 CA156718346 |
169 | Y>N | No |
ClinGen Ensembl |
|
|
CA4214027 rs751423443 |
170 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367252830 rs751423443 |
170 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243065905 CA367252871 |
176 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4214030 rs750278720 |
177 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA156718350 rs933977059 |
179 | L>F | No |
ClinGen Ensembl |
|
|
rs1052883436 CA156718351 |
180 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779588488 CA4214032 |
181 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA156718352 rs892702027 |
181 | P>S | No |
ClinGen Ensembl |
|
|
rs749030583 CA4214033 |
182 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA367252900 rs946999139 |
182 | G>C | No |
ClinGen gnomAD |
|
|
rs946999139 CA156718353 |
182 | G>R | No |
ClinGen gnomAD |
|
|
CA367252908 rs1295694044 |
183 | P>L | No |
ClinGen TOPMed |
|
|
rs1562888583 RCV000722690 CA367252928 |
186 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771447042 CA4214037 |
187 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547643751 CA4214039 COSM3768351 COSM3768352 |
189 | R>H | ovary Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466761703 CA367252947 |
190 | T>A | No |
ClinGen TOPMed |
|
|
CA367252966 rs1375381638 |
193 | F>I | No |
ClinGen TOPMed |
|
|
CA4214041 rs775560451 |
196 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4214042 rs763276826 |
199 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1244073921 CA367253022 |
201 | Q>R | No |
ClinGen gnomAD |
|
|
rs1002790240 CA156718354 |
202 | V>A | No |
ClinGen TOPMed |
|
|
CA367253044 rs1418831666 |
204 | S>T | No |
ClinGen gnomAD |
|
|
rs183569253 CA156718355 |
205 | Y>C | No |
ClinGen 1000Genomes |
|
| TCGA novel | 206 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751710938 CA4214044 |
206 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1398942596 CA367253383 |
207 | Y>C | No |
ClinGen gnomAD |
|
|
rs537007633 CA156719069 |
208 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4214064 rs537007633 |
208 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 209 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367253415 rs774509877 |
210 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774509877 CA4214065 |
210 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1055482079 CA156719070 |
214 | T>R | No |
ClinGen TOPMed |
|
|
CA367253476 rs1427785353 |
215 | D>V | No |
ClinGen TOPMed |
|
|
CA4214066 rs762002164 |
219 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1307359911 CA367253544 |
219 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262187085 CA367253558 |
221 | E>K | No |
ClinGen TOPMed |
|
|
CA367253565 rs1195518581 |
221 | E>V | No |
ClinGen TOPMed |
|
|
rs760703761 CA4214069 |
223 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583964086 CA367253579 |
223 | E>K | No |
ClinGen Ensembl |
|
|
rs754542801 CA4214072 |
228 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1025553671 CA156719071 |
231 | K>I | No |
ClinGen Ensembl |
|
|
rs752144921 CA4214074 |
232 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373380343 CA4214075 |
234 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4214092 rs752341066 |
235 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA367253882 rs1562917313 |
236 | D>G | No |
ClinGen Ensembl |
|
|
CA156719957 rs908560742 |
237 | W>* | No |
ClinGen TOPMed |
|
|
rs758097081 CA4214094 |
237 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs763548323 CA4214095 |
238 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs756512853 CA4214097 |
241 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4214098 rs147656579 |
243 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283079942 CA367253986 |
244 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs749820680 CA4214099 |
244 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA367254010 rs1314684001 |
247 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1261247088 CA367254040 |
248 | I>M | No |
ClinGen gnomAD |
|
|
rs748355352 CA4214103 |
249 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4214104 rs772441123 |
249 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773383679 CA4214105 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747113759 CA4214106 |
251 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1382587192 CA367254107 |
252 | S>F | No |
ClinGen TOPMed |
|
|
CA367254186 rs1243574132 |
257 | A>S | No |
ClinGen gnomAD |
|
|
CA367254222 rs1241493246 |
259 | S>F | No |
ClinGen TOPMed |
|
|
COSM159343 rs149093988 COSM159344 CA156719958 |
260 | V>I | NS [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs183674003 CA156719959 |
261 | F>L | No |
ClinGen 1000Genomes |
|
| TCGA novel | 261 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs188371821 CA4214111 |
262 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367254312 rs1278607147 |
265 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214114 rs763742314 |
270 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA156719961 rs868719132 |
272 | K>E | No |
ClinGen Ensembl |
|
|
rs761375820 CA4214116 |
274 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203482403 CA367254494 |
276 | Q>L | No |
ClinGen gnomAD |
|
|
CA4214118 rs754343745 |
278 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214119 rs754343745 |
278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179046496 CA367254524 |
279 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4214121 rs143119193 |
280 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA156719963 rs995158512 |
287 | P>L | No |
ClinGen Ensembl |
|
|
rs898188620 CA156719962 |
287 | P>S | No |
ClinGen Ensembl |
|
|
rs146770174 CA4214124 |
288 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367254644 rs1584018373 |
289 | C>F | No |
ClinGen Ensembl |
|
|
rs1301680787 CA367254698 |
293 | Y>S | No |
ClinGen TOPMed |
|
|
rs1328556114 CA367254742 |
295 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367254734 rs1204443342 |
295 | S>P | No |
ClinGen gnomAD |
|
|
CA4214126 rs747251300 |
296 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4214125 rs747251300 |
296 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1363893377 CA367254840 |
297 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4214144 rs757469936 |
298 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367254854 rs1275635091 |
299 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1288749236 CA367254864 |
300 | T>A | No |
ClinGen TOPMed |
|
|
CA4214145 rs781293442 |
301 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA367254901 rs1452222175 |
305 | I>T | No |
ClinGen gnomAD |
|
|
rs1292179625 CA367254898 |
305 | I>V | No |
ClinGen gnomAD |
|
|
rs769663141 CA4214147 |
307 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357961739 CA367254920 |
308 | H>R | No |
ClinGen TOPMed |
|
|
rs1341125124 CA367254936 |
310 | N>I | No |
ClinGen TOPMed |
|
|
CA367254950 rs1189541228 |
312 | L>V | No |
ClinGen gnomAD |
|
|
CA367254961 rs372698195 |
314 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4214150 rs372698195 |
314 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367254972 rs1165057648 |
315 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA156720021 rs145256315 |
318 | V>M | No |
ClinGen ESP |
|
|
CA367254997 rs1406188478 |
319 | T>A | No |
ClinGen TOPMed |
|
|
rs1316205248 CA367255018 |
322 | W>* | No |
ClinGen gnomAD |
|
|
rs928813600 CA156720023 |
322 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA367255041 rs772777644 CA367255040 |
325 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214155 rs760272596 |
327 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367255056 rs1286176309 |
328 | H>R | No |
ClinGen gnomAD |
|
|
rs943663192 CA156720024 |
328 | H>Y | No |
ClinGen Ensembl |
|
|
CA367255062 rs1425031985 |
329 | I>V | No |
ClinGen TOPMed |
|
|
rs776135400 CA4214157 |
331 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA156720025 rs1040997575 |
336 | G>V | No |
ClinGen Ensembl |
|
|
CA156720026 rs989039655 |
338 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs763593328 CA4214158 |
339 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914827242 CA156720027 |
339 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA367253966 rs1346350710 |
340 | D>H | No |
ClinGen Ensembl |
|
|
rs372905559 CA4214181 |
341 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1449798570 CA367254018 |
342 | K>N | No |
ClinGen TOPMed |
|
|
rs1563019258 CA367254011 |
342 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 343 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749416649 CA156726912 |
344 | V>M | No |
ClinGen gnomAD |
|
|
rs1426530664 CA367254058 |
345 | I>V | No |
ClinGen gnomAD |
|
|
CA367254098 rs1190192699 |
347 | T>I | No |
ClinGen gnomAD |
|
|
rs1006757168 CA156726913 |
349 | S>N | No |
ClinGen Ensembl |
|
|
rs1450271969 CA367254139 |
350 | D>H | No |
ClinGen gnomAD |
|
|
COSM98138 rs756380526 COSM3720956 CA4214186 |
355 | Q>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1459499164 CA367254256 |
357 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367254322 rs1294645796 |
361 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222235391 CA367254376 |
364 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367254377 rs1222235391 |
364 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs377289479 CA156726914 |
367 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs753954372 CA4214188 |
370 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1366355966 CA367254479 |
371 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs998200637 CA156726915 |
374 | R>* | No |
ClinGen gnomAD |
|
|
CA4214193 rs758120778 |
374 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs758120778 CA4214192 |
374 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367254576 rs886062285 |
377 | N>I | No |
ClinGen gnomAD |
|
|
CA156726916 rs996121499 |
378 | Y>C | No |
ClinGen TOPMed |
|
|
rs1182595664 CA367254610 |
379 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 382 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745384211 CA4214198 |
382 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367254699 rs1563019861 |
385 | M>R | No |
ClinGen Ensembl |
|
|
CA4214200 rs769404963 |
388 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA156726918 rs1028924806 |
390 | K>Q | No |
ClinGen TOPMed |
|
|
rs886042258 RCV000344268 |
391 | I>missing | No |
ClinVar dbSNP |
|
|
rs1323097042 CA367254780 |
393 | K>* | No |
ClinGen gnomAD |
|
|
rs1452353339 CA367254790 |
394 | D>V | No |
ClinGen gnomAD |
|
|
CA367254794 rs1300725879 |
395 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367254835 rs762425767 |
399 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs772407155 CA4214203 |
399 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs762425767 CA4214202 |
399 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1563026668 CA367255142 |
401 | V>I | No |
ClinGen Ensembl |
|
|
rs1274169022 CA367255160 |
403 | P>L | No |
ClinGen gnomAD |
|
|
CA4214221 rs772602748 |
404 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748557360 CA4214220 |
404 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266402792 CA367255191 |
408 | E>G | No |
ClinGen Ensembl |
|
|
rs761037803 CA4214223 |
409 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs773503585 CA4214222 |
409 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA156727319 rs1000831388 |
410 | D>Y | No |
ClinGen Ensembl |
|
|
rs778518775 CA367255225 |
413 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778518775 CA4214225 |
413 | V>I | Variant assessed as Somatic; 0.0005083 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759840530 CA4214226 |
414 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs765207622 CA4214227 |
415 | V>I | No |
ClinGen ExAC |
|
|
rs1230012192 CA367255240 |
416 | V>E | No |
ClinGen TOPMed |
|
|
CA4214229 rs61764067 |
416 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751604593 CA4214230 |
417 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4214231 rs147507624 |
419 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367255260 rs1436119227 |
420 | N>D | No |
ClinGen TOPMed |
|
|
CA367255259 rs1436119227 |
420 | N>H | No |
ClinGen TOPMed |
|
|
rs781174771 CA4214232 |
420 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1274193598 CA367255268 |
421 | F>V | No |
ClinGen gnomAD |
|
|
CA4214233 rs140198337 |
422 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1584422300 CA367255323 |
427 | A>S | No |
ClinGen Ensembl |
|
|
CA4214249 rs774401569 |
429 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 430 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367255339 rs1465497304 |
430 | V>I | No |
ClinGen TOPMed |
|
|
CA4214252 rs750267054 |
433 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs750267054 CA367255361 |
433 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214253 rs755659693 |
437 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA367255407 rs1468269486 |
441 | T>A | No |
ClinGen TOPMed |
|
|
CA4214255 COSM1549564 rs753543455 COSM1549565 |
442 | V>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA156727711 rs774821284 |
443 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200817595 CA156728107 |
444 | V>L | No |
ClinGen Ensembl |
|
|
rs772105704 CA4214285 |
450 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778119428 CA156728108 |
451 | I>M | No |
ClinGen Ensembl |
|
|
rs773192233 CA4214287 |
451 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367255486 rs760567112 |
452 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA4214289 rs770734697 |
453 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_026390 rs764873070 CA4214292 |
455 | A>V | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs752144853 CA4214293 |
456 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1372563219 CA367255529 |
458 | S>L | No |
ClinGen gnomAD |
|
|
rs377149733 CA4214295 |
460 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780524334 CA4214298 |
461 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1450479 rs780524334 CA4214297 COSM1450480 |
461 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181042697 CA367255554 |
462 | Q>H | No |
ClinGen TOPMed |
|
|
CA156728110 rs1050854835 |
463 | P>L | No |
ClinGen TOPMed |
|
|
rs772163711 CA4214302 |
469 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA156728111 rs890978342 |
470 | D>G | No |
ClinGen TOPMed |
|
|
rs777767263 CA367255614 |
471 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs150858260 CA4214304 |
473 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1268206050 CA367255626 |
473 | T>S | No |
ClinGen TOPMed |
|
|
rs770807702 CA4214305 |
477 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4214347 rs749047846 |
480 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1482114240 CA367255901 |
481 | L>W | No |
ClinGen gnomAD |
|
|
rs1207317949 CA367255913 |
482 | T>S | No |
ClinGen gnomAD |
|
|
rs1233909396 CA367255916 |
483 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245905683 CA367255936 |
485 | V>L | No |
ClinGen TOPMed |
|
|
CA4214349 rs773866720 |
486 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA367255954 rs1189803526 |
486 | S>R | No |
ClinGen gnomAD |
|
|
CA4214352 rs375968976 |
489 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367255993 rs375968976 |
489 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431041076 CA367256014 |
491 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 493 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214354 rs765846163 |
494 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA367256050 rs1434052816 |
495 | Y>D | No |
ClinGen gnomAD |
|
|
rs1235389251 CA367256070 |
497 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 497 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214357 rs751700178 |
500 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767543735 CA4214358 |
500 | L>W | No |
ClinGen ExAC |
|
| TCGA novel | 503 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 504 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750504833 CA4214359 |
504 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216338032 CA367256165 |
505 | V>A | No |
ClinGen gnomAD |
|
|
rs1186179711 CA367256159 |
505 | V>L | No |
ClinGen TOPMed |
|
|
CA4214360 rs755986159 |
506 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1474808052 CA367256209 |
509 | S>F | No |
ClinGen TOPMed |
|
|
rs779840211 CA4214361 |
510 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA367256229 rs965817527 |
511 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA156728333 rs965817527 |
511 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367256317 rs1401715737 |
514 | R>* | No |
ClinGen gnomAD |
|
|
COSM1089282 rs899716022 CA156728476 COSM1089281 |
514 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs774639031 CA4214393 |
516 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367256340 rs1296417654 |
518 | G>S | No |
ClinGen TOPMed |
|
|
rs1214051217 CA367252041 |
519 | I>T | No |
ClinGen gnomAD |
|
|
rs767182913 CA4214428 |
519 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4214433 COSM3411998 rs748601675 COSM3411997 |
521 | R>* | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4214432 rs748601675 |
521 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA156728962 rs917934488 |
525 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746119144 CA4214438 |
525 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 527 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214439 rs775178031 |
528 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214441 rs762915979 |
529 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214440 rs775734956 |
529 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1039154373 CA156728964 |
530 | P>L | No |
ClinGen gnomAD |
|
|
CA367252104 rs1362054920 |
530 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4214442 rs768727577 |
532 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA367252116 rs1357238219 |
532 | K>R | No |
ClinGen gnomAD |
|
|
rs774211866 CA4214443 |
535 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1486252113 CA367252150 |
537 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1255462578 CA367252153 |
538 | G>S | No |
ClinGen gnomAD |
|
|
CA367252170 rs1189258650 |
540 | P>L | No |
ClinGen gnomAD |
|
|
rs200636897 CA4214448 |
541 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs760338740 CA4214447 |
541 | S>T | No |
ClinGen ExAC |
|
|
rs1417640176 CA367252177 |
542 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1417640176 CA367252176 |
542 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1157665106 CA367252188 |
543 | T>N | No |
ClinGen gnomAD |
|
|
CA4214449 rs753353686 |
544 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4214450 rs758848851 |
545 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA367252196 rs1248984371 |
545 | S>N | No |
ClinGen TOPMed |
|
|
CA367252199 rs1211007235 |
545 | S>R | No |
ClinGen TOPMed |
|
|
CA4214451 rs778332830 |
546 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367252205 rs1380584977 |
546 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1050416352 CA156728965 |
548 | I>V | No |
ClinGen TOPMed |
|
|
CA4214452 rs59252892 |
549 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746053978 CA4214453 |
551 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1225218086 CA367252242 |
552 | T>N | No |
ClinGen gnomAD |
|
|
rs1309448923 CA367252272 |
556 | P>L | No |
ClinGen gnomAD |
|
|
rs575057023 CA4214454 |
558 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575057023 CA367252283 |
558 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233801109 CA367252287 |
559 | L>V | No |
ClinGen gnomAD |
|
|
CA156728966 rs896832021 |
560 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 567 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768755301 CA4214475 |
567 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA156729972 rs200439561 |
567 | A>S | No |
ClinGen TOPMed |
|
|
CA156729971 rs200439561 |
567 | A>T | No |
ClinGen TOPMed |
|
|
CA367252356 rs1167467484 |
568 | S>G | No |
ClinGen gnomAD |
|
|
rs1416734863 CA367252372 |
570 | S>P | No |
ClinGen gnomAD |
|
|
CA367252399 rs1171039520 |
573 | D>E | No |
ClinGen gnomAD |
|
|
CA4214476 rs778878237 |
575 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs771905244 CA4214478 |
577 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1291124812 CA367252436 |
579 | G>C | No |
ClinGen TOPMed |
|
|
rs763009434 CA4214479 |
581 | H>L | No |
ClinGen ExAC |
|
|
CA367252480 rs1584516205 |
585 | G>S | No |
ClinGen Ensembl |
|
|
rs1269719837 CA367252485 |
586 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1359954966 CA367252490 |
586 | A>V | No |
ClinGen gnomAD |
|
|
CA4214481 rs746797123 |
587 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs183015712 CA4214483 |
588 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759237200 CA4214484 |
589 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs143016114 CA4214485 |
590 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM452993 rs1188195735 CA367252510 COSM452994 |
591 | L>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA156729974 rs894244428 |
595 | T>A | No |
ClinGen gnomAD |
|
|
rs751035704 CA4214487 |
596 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA367252542 rs751035704 |
596 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA156729975 rs948418225 |
597 | Q>* | No |
ClinGen Ensembl |
|
|
rs148232898 CA4214516 |
598 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4214515 rs148232898 |
598 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223966229 CA367253082 |
599 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4214518 rs775703296 |
600 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749018243 CA4214520 |
600 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367253086 rs775703296 |
600 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214521 rs377588119 |
601 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761192913 CA4214522 |
602 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367253105 rs1584588488 |
603 | S>N | No |
ClinGen Ensembl |
|
|
CA367253110 rs1563095682 |
604 | E>K | No |
ClinGen Ensembl |
|
|
CA4214523 rs771575427 |
607 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4214526 rs765676769 |
610 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 615 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 615 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214529 COSM1187281 COSM1187280 rs562055155 |
616 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA367253199 rs1198307629 |
616 | L>P | No |
ClinGen TOPMed |
|
|
rs543113169 CA4214532 COSM231835 COSM231834 |
619 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs755842426 CA4214534 |
621 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214535 rs779921215 |
627 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748849364 CA4214536 |
628 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4214537 rs561404900 |
630 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 631 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 631 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA156731706 rs959168118 |
632 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 633 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214539 rs747644340 |
634 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214541 rs776974656 |
638 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs929261629 CA156731708 |
640 | I>M | No |
ClinGen Ensembl |
|
|
CA4214545 rs775954730 |
641 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1472827261 CA367253418 |
645 | Y>C | No |
ClinGen gnomAD |
|
|
COSM3698370 COSM3698371 rs1399102946 CA367253483 |
649 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA156731711 rs147334286 |
654 | E>A | No |
ClinGen ESP TOPMed |
|
|
rs751839746 CA4214548 |
654 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1006435630 CA156731710 |
654 | E>K | No |
ClinGen Ensembl |
|
|
RCV001269695 rs1825528981 |
655 | L>missing | No |
ClinVar dbSNP |
|
|
rs531788298 CA4214570 |
656 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4214569 rs762045410 |
656 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 669 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214571 rs760467259 |
669 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4214572 rs766324306 |
671 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1263923004 CA367253799 |
673 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs555671554 CA4214574 |
674 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM600887 CA156732193 rs555671554 COSM600886 |
674 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4214573 COSM1698527 COSM1698526 rs368526968 |
674 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4214578 rs777081013 |
676 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4214580 rs200654248 |
678 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768958916 CA4214583 |
679 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313736607 CA367253844 |
682 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs924130132 CA156732194 |
685 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4214587 rs773359962 |
686 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584610838 CA367253917 |
688 | T>P | No |
ClinGen Ensembl |
|
|
rs1262639135 CA367253956 |
690 | A>S | No |
ClinGen gnomAD |
|
|
rs1488623911 CA367253971 |
690 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4214590 rs776690298 |
691 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759571062 CA367254006 |
691 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182855810 CA367254023 |
692 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 692 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182855810 CA367254019 |
692 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA156732196 rs373667337 |
698 | L>M | No |
ClinGen ESP |
|
|
rs763790518 CA4214595 |
700 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4214596 rs751239554 |
701 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 701 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214597 rs780588389 |
703 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1303550043 CA367254399 |
704 | K>R | No |
ClinGen TOPMed |
|
|
CA367254435 rs1448647488 |
705 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367254439 rs1448647488 |
705 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762804983 CA4214614 |
707 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA156745231 rs930440318 |
708 | A>P | No |
ClinGen TOPMed |
|
|
rs763837610 CA4214615 |
709 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751173437 CA4214616 |
712 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1048975482 CA156745233 |
713 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA367255739 rs1259085778 |
716 | N>I | No |
ClinGen gnomAD |
|
|
rs1467787080 CA367255742 |
716 | N>K | No |
ClinGen gnomAD |
|
|
rs1399541960 CA367255762 |
719 | N>S | No |
ClinGen gnomAD |
|
|
CA367255782 rs1211437677 |
722 | Q>* | No |
ClinGen gnomAD |
|
|
CA4214617 rs761402596 |
722 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs961181468 CA156745234 |
723 | S>P | No |
ClinGen Ensembl |
|
|
CA4214618 rs766946553 |
724 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367255792 rs766946553 |
724 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367255810 rs1417236946 |
726 | R>S | No |
ClinGen gnomAD |
|
|
CA4214620 rs755674949 |
728 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367255827 rs1393453305 |
729 | S>T | No |
ClinGen gnomAD |
|
|
CA367255845 rs1563270967 |
732 | H>D | No |
ClinGen Ensembl |
|
|
CA367255848 rs1461173831 |
732 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 734 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214622 rs753240417 |
734 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148536971 CA4214626 |
738 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 742 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139269190 CA4214632 |
742 | Q>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1220593234 CA367256007 |
744 | L>V | No |
ClinGen gnomAD |
|
|
rs761471578 CA4214633 |
745 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs976584722 CA156745236 |
745 | S>R | No |
ClinGen Ensembl |
|
|
rs767138951 CA4214634 |
746 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 746 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367256063 rs1489268490 |
747 | D>V | No |
ClinGen gnomAD |
|
|
CA367256076 rs1487662240 |
748 | Q>* | No |
ClinGen gnomAD |
|
|
rs760144500 CA4214636 |
748 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760144500 CA367256078 |
748 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765919756 CA4214637 |
751 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs376108948 CA4214638 |
752 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4214640 rs567750476 |
754 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1343507292 CA367256170 |
755 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 757 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214643 rs757754301 |
758 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367256273 rs1355234269 |
763 | T>I | No |
ClinGen gnomAD |
|
|
CA4214645 rs756242209 |
764 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367256293 rs1222843042 |
766 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 766 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367256685 rs1240182735 |
767 | G>D | No |
ClinGen gnomAD |
|
|
CA367256680 rs1378512035 |
767 | G>S | No |
ClinGen gnomAD |
|
|
CA367256695 rs1213406611 |
769 | E>K | No |
ClinGen TOPMed |
|
|
CA4214660 COSM3698374 COSM3698373 rs370662412 |
771 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4214662 rs756407829 |
773 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4214664 rs547262253 |
774 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547262253 CA4214663 |
774 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571795495 CA4214667 |
775 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4214666 rs571795495 |
775 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367256751 rs1229532839 |
778 | H>Y | No |
ClinGen TOPMed |
|
|
CA367256760 rs142434516 |
779 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746600699 CA4214670 |
783 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4214671 rs770586723 |
785 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770586723 CA367256799 |
785 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377403564 CA156748356 |
786 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1396602019 CA367256835 |
790 | E>D | No |
ClinGen TOPMed |
|
|
CA367256844 rs748137047 |
792 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214673 rs748137047 |
792 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451906506 CA367256846 |
792 | A>V | No |
ClinGen TOPMed |
|
|
rs1455021236 CA367256864 |
795 | L>F | No |
ClinGen TOPMed |
|
|
rs1235349225 CA367256866 |
795 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367256867 rs1235349225 |
795 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA156748358 rs934023077 |
796 | N>S | No |
ClinGen gnomAD |
|
|
rs767924647 CA4214676 |
800 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs913994189 CA156748359 |
801 | I>T | No |
ClinGen Ensembl |
|
|
rs750828528 CA4214677 |
801 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA367256908 rs886062288 |
802 | P>T | No |
ClinGen Ensembl |
|
|
rs754129389 CA4214679 |
805 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 807 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367256951 rs1279579122 |
808 | L>M | No |
ClinGen TOPMed |
|
|
rs758013591 CA156748360 |
809 | K>R | No |
ClinGen Ensembl |
|
|
rs1475362320 CA367256974 |
811 | H>R | No |
ClinGen gnomAD |
|
|
rs752588678 CA367256981 |
812 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs752588678 CA4214682 |
812 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1585159456 CA367256983 |
813 | T>P | No |
ClinGen Ensembl |
|
|
CA367257008 rs375606348 |
816 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4214686 rs770826582 |
818 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs745586445 CA4214688 |
820 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4214690 rs775099530 |
821 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4214692 rs568983909 |
822 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568983909 CA367257043 |
822 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4214694 rs376641244 |
824 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4214695 rs376641244 |
824 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214698 rs765165022 |
829 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214701 rs368704638 |
830 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751542968 CA4214702 |
832 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA156748361 rs1056157062 |
832 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367257138 rs1340926955 |
838 | V>I | No |
ClinGen gnomAD |
|
|
rs1413887557 CA367257161 |
841 | G>R | No |
ClinGen gnomAD |
|
|
CA367256372 rs1249321517 |
842 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779818517 CA4214726 |
843 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367256382 rs1424137148 |
844 | T>A | No |
ClinGen TOPMed |
|
|
rs148386829 CA156756406 |
844 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs545725547 CA4214727 |
845 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376692708 CA4214731 |
846 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214729 rs778596742 |
846 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746240388 CA4214733 |
849 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1470680412 CA367256418 |
850 | D>A | No |
ClinGen TOPMed |
|
|
CA4214735 rs768072201 |
850 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214738 rs764122627 |
856 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367256465 rs1481731972 |
857 | E>G | No |
ClinGen TOPMed |
|
|
rs1270373846 CA367256470 |
858 | Q>E | No |
ClinGen TOPMed |
|
|
rs1377660851 CA367256472 |
858 | Q>P | No |
ClinGen gnomAD |
|
|
CA4214741 rs367869428 |
865 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA156756408 rs143963391 |
865 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367256521 rs1456219954 |
866 | N>H | No |
ClinGen gnomAD |
|
|
rs1358424664 CA367256536 |
867 | H>Q | No |
ClinGen gnomAD |
|
|
CA367256539 rs1200126873 |
868 | R>K | No |
ClinGen gnomAD |
|
|
rs371761356 CA4214742 |
868 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 870 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367256551 rs1189435999 |
870 | L>V | No |
ClinGen gnomAD |
|
|
CA367256560 rs1427121577 |
871 | T>S | No |
ClinGen gnomAD |
|
|
CA367256564 rs1433683899 |
872 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 873 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214743 rs750363787 |
874 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1333531416 CA367256585 |
875 | P>L | No |
ClinGen gnomAD |
|
|
CA367256581 rs755911247 |
875 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA156756430 rs976242629 |
879 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 879 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 880 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4214774 rs750907204 |
880 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA156756431 rs756620095 |
881 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214775 rs756620095 |
881 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367256631 rs756620095 |
881 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1400026652 CA367256636 |
882 | L>P | No |
ClinGen gnomAD |
|
|
rs967703053 CA156756432 |
883 | Q>R | No |
ClinGen Ensembl |
|
|
rs769046790 CA4214777 |
884 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA367256658 rs779169794 |
886 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4214778 rs779169794 |
886 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772149404 CA4214780 |
887 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1205141608 CA367256671 |
888 | E>L | No |
ClinGen TOPMed |
2 associated diseases with Q3SYG4
[MIM: 615986]: Bardet-Biedl syndrome 9 (BBS9)
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:16380913, ECO:0000269|PubMed:26085087}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:16380913, ECO:0000269|PubMed:26085087}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| BBSome | A ciliary protein complex involved in cilium biogenesis. It consists of at least seven Bardet-Biedl syndrome (BBS) proteins and BBIP10. It moves in association with IFT trains through cilia (likely as an IFT-A/B adaptor or cargo), and is required for the integrity of IFT-A and IFT-B. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| pericentriolar material | A network of small fibers that surrounds the centrioles in cells; contains the microtubule nucleating activity of the centrosome. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
| protein localization to cilium | A process in which a protein is transported to, or maintained in, a location within a cilium. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q811G0 | Bbs9 | Protein PTHB1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLFKARDWW | STILGDKEEF | DQGCLCLANV | DNSGNGQDKI | IVGSFMGYLR | IFSPHPAKTG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DGAQAEDLLL | EVDLRDPVLQ | VEVGKFVSGT | EMLHLAVLHS | RKLCVYSVSG | TLGNVEHGNQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CQMKLMYEHN | LQRTACNMTY | GSFGGVKGRD | LICIQSMDGM | LMVFEQESYA | FGRFLPGFLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGPLAYSSRT | DSFLTVSSCQ | QVESYKYQVL | AFATDADKRQ | ETEQQKLGSG | KRLVVDWTLN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGEQALDICI | VSFNQSASSV | FVLGERNFFC | LKDNGQIRFM | KKLDWSPSCF | LPYCSVSEGT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| INTLIGNHNN | MLHIYQDVTL | KWATQLPHIP | VAVRVGCLHD | LKGVIVTLSD | DGHLQCSYLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDPSLFQAPN | VQSRELNYDE | LDVEMKELQK | IIKDVNKSQG | VWPMTEREDD | LNVSVVVSPN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FDSVSQATDV | EVGTDLVPSV | TVKVTLQNRV | ILQKAKLSVY | VQPPLELTCD | QFTFEFMTPD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTRTVSFSVY | LKRSYTPSEL | EGNAVVSYSR | PTDRNPDGIP | RVIQCKFRLP | LKLICLPGQP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SKTASHKITI | DTNKSPVSLL | SLFPGFASQS | DDDQVNVMGF | HFLGGARITV | LASKTSQRYR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IQSEQFEDLW | LITNELILRL | QEYFEKQGVK | DFACSFSGSI | PLQEYFELID | HHFELRINGE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLEELLSERA | VQFRAIQRRL | LARFKDKTPA | PLQHLDTLLD | GTYKQVIALA | DAVEENQGNL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FQSFTRLKSA | THLVILLIAL | WQKLSADQVA | ILEAAFLPLQ | EDTQELGWEE | TVDAAISHLL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KTCLSKSSKE | QALNLNSQLN | IPKDTSQLKK | HITLLCDRLS | KGGRLCLSTD | AAAPQTMVMP |
| 850 | 860 | 870 | 880 | ||
| GGCTTIPESD | LEERSVEQDS | TELFTNHRHL | TAETPRPEVS | PLQGVSE |