Q9Y5Y9
PR
Gene name |
SCN10A |
Protein name |
Sodium channel protein type 10 subunit alpha |
Names |
Peripheral nerve sodium channel 3, PN3, hPN3, Sodium channel protein type X subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6336 |
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
5 structures for Q9Y5Y9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7WE4 | EM | 270 A | A | 1-1956 | PDB |
| 7WEL | EM | 320 A | A | 1-1956 | PDB |
| 7WFR | EM | 300 A | A | 1-1956 | PDB |
| 7WFW | EM | 310 A | A | 1-1956 | PDB |
| AF-Q9Y5Y9-F1 | Predicted | AlphaFoldDB |
1943 variants for Q9Y5Y9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000803673 rs1156489183 CA352163554 |
5 | I>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs747174454 CA2321320 COSM1537897 RCV000638734 |
9 | E>K | lung Brugada syndrome Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000690545 CA2321317 RCV002325375 rs750771811 |
14 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141207048 RCV001206781 CA2321316 RCV002327473 |
14 | R>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002329115 RCV000476799 RCV001704570 CA2321315 rs141207048 RCV000987256 RCV000755653 |
14 | R>L | Episodic pain syndrome, familial, 2 Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002350018 RCV000841266 RCV001082558 rs190176472 CA2321311 |
18 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002350017 CA2321309 rs141810266 RCV000489765 RCV001486569 |
19 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553626259 RCV000638650 CA352163345 |
21 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352163090 RCV000552988 rs1553626242 |
40 | K>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388297 RCV000699317 rs757655001 CA2321298 |
50 | K>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs368312678 RCV001060807 CA72963535 RCV002393298 |
51 | P>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs145900411 CA2321290 RCV002409311 RCV000983846 RCV001664586 |
60 | C>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002429987 RCV001231565 rs1200209497 |
75 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002446973 RCV001237432 RCV000498801 rs753292241 CA2321278 |
78 | P>S | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060501717 RCV000475022 CA16611303 RCV000786209 |
81 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs140609990 RCV001443889 CA2321275 RCV002427135 |
84 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1173154320 RCV002458203 CA352162492 RCV000686498 |
86 | Y>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000638739 CA352162460 rs1226072923 |
88 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000228334 CA2321271 RCV001658063 RCV002436034 rs144270136 |
90 | R>W | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001491365 RCV002434134 RCV000987255 CA2321257 rs202143516 |
94 | V>G | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001206709 CA72962609 rs758035498 RCV002484116 |
100 | T>N | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2321252 RCV002325237 rs199973777 RCV000638754 |
103 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750073618 CA2321253 RCV000638736 COSM1131455 |
103 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. pancreas prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000699094 CA2321251 rs757050845 RCV002325404 |
107 | T>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs141278729 RCV003099324 CA2321250 RCV002445588 |
108 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs760579685 RCV002453898 CA72962573 RCV000822928 |
115 | P>L | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000786213 RCV000229954 RCV002450699 CA2321244 rs142884499 |
122 | T>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs537640516 RCV000509537 CA352160752 |
123 | A>G | SCN10A-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs537640516 CA2321242 RCV001479057 RCV002345965 |
123 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1553625946 RCV000555790 CA352160702 |
126 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2321212 rs148663098 RCV000533330 RCV001755829 RCV002323952 |
137 | T>M | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000998053 rs745868315 RCV002550715 CA2321205 |
149 | R>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000811122 rs745868315 CA352159852 |
149 | R>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1224819 RCV000439872 CA2321203 RCV000822488 RCV002329005 rs201706560 |
149 | R>Q | Brugada syndrome large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs202192818 CA2321184 RCV002289756 RCV000547184 RCV002341307 RCV000998052 RCV000764505 |
158 | Y>D | Episodic pain syndrome, familial, 2 Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003163603 RCV003142144 CA2321178 rs558639346 RCV001210901 |
168 | A>D | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA352156415 RCV000792758 rs769305453 |
170 | I>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA72954419 rs371221408 RCV001298573 |
180 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002343248 RCV000638672 rs142203439 CA2321170 RCV001756059 |
181 | E>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352156272 RCV000547590 rs1553623225 |
182 | F>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000794436 rs1553623225 CA352156270 |
182 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2321165 RCV002345971 RCV000866488 rs767815241 |
188 | P>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2321157 RCV000685565 RCV002352110 RCV001653976 RCV000987254 rs554062977 COSM1658966 |
200 | A>V | Brugada syndrome NS Brugada syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
TCGA novel rs2063900078 RCV001351873 |
202 | V>A | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA2321133 rs774347834 RCV001294527 RCV003166635 |
203 | G>S | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2321130 RCV000420038 rs74717885 RCV000470384 RCV002356547 |
206 | I>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2063899867 RCV001226047 |
206 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1240131 CA2321127 RCV001759776 rs779184623 RCV002365693 RCV001049546 |
209 | R>H | Brugada syndrome oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141368548 RCV000638728 RCV001756060 CA2321119 RCV002360552 |
228 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2321117 RCV000539164 RCV002367835 rs147844607 |
230 | P>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2321094 rs764095900 RCV002365944 RCV001209729 |
231 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2321086 RCV000764504 rs140288103 RCV000556288 RCV002376960 RCV003155222 RCV000523846 |
242 | S>T | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA72995123 RCV000532507 rs747296872 RCV003159802 |
251 | I>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs766143752 RCV000638689 CA352171733 |
254 | I>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000821115 rs758197140 CA2321079 RCV002397718 |
258 | S>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2063866964 RCV001198910 |
275 | K>T | Episodic pain syndrome, familial, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352171584 RCV001318895 RCV002431911 rs1251019283 |
276 | C>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000467091 CA2321063 RCV000613043 rs146151670 RCV002411541 RCV001079652 |
285 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002409312 RCV000983950 rs147150438 CA2321062 |
286 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs147150438 RCV001232219 |
286 | T>K | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542785 rs371909817 CA2321057 RCV002483407 RCV002377057 |
295 | P>S | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA72994413 rs553913580 RCV000700855 RCV002369925 |
297 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201955990 RCV000764503 RCV002446645 RCV000423278 RCV000559889 CA2321030 |
302 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2063859649 RCV001345196 |
310 | C>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531542 CA2321002 RCV002377058 rs199715855 |
319 | C>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001052541 CA2320990 rs370603046 RCV002481968 RCV002393263 RCV001563074 |
351 | R>C | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002397390 rs767987787 RCV001281545 RCV000690371 RCV002485638 CA2320988 |
351 | R>H | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM212292 rs773808340 RCV002418743 RCV001216769 CA352170025 |
360 | R>C | Brugada syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA2320984 RCV000863864 RCV002415993 rs762451403 |
360 | R>H | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2320952 RCV000795793 RCV001569535 rs147835034 RCV002440639 |
373 | Y>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2320949 RCV001700188 RCV000464851 rs142276689 RCV002323786 RCV002489111 |
380 | V>I | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000540232 rs142276689 CA2320950 |
380 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150923753 RCV000624191 RCV002455872 RCV001081257 CA2320948 RCV000599884 |
381 | I>V | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001561080 RCV002356297 RCV000234104 rs78555408 CA2320947 |
386 | F>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2320946 RCV000861565 RCV002284447 RCV002319952 rs199734710 |
388 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA72991200 rs371834396 RCV002482069 RCV002339309 RCV001062851 |
399 | A>V | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002402393 RCV000528966 RCV000987252 RCV001712444 rs758898721 |
417 | K>missing | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229072 rs143033805 CA2320924 RCV002500796 RCV002374370 COSM1582580 RCV001473617 |
426 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002369874 rs532774213 CA2320925 RCV000694296 RCV000764502 |
426 | R>W | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2320891 RCV002386392 RCV003156292 rs146536985 RCV002493451 RCV000795088 |
439 | T>A | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA352169042 RCV000638731 rs1373914068 |
442 | L>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000539429 RCV002384097 RCV002280127 RCV002289754 CA2320882 rs766017851 |
457 | E>G | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001557408 RCV002393662 CA2320879 RCV001248307 rs764168768 |
466 | V>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs527577666 RCV001477630 CA2320877 RCV002390794 |
470 | S>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002393461 CA2320875 rs143920053 RCV001205174 RCV001586046 |
473 | D>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002393697 CA2320874 RCV001296052 rs774806601 |
473 | D>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2320872 RCV002487079 rs142235256 RCV002392710 RCV000231917 RCV001081469 |
477 | P>L | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002395749 CA2320870 RCV001342530 rs770389041 |
478 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002261348 CA352168761 rs1245630548 RCV001341455 |
479 | S>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000419590 CA2320865 RCV001704001 rs151153639 RCV002390239 RCV000468209 |
485 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2320864 RCV000765748 RCV000551900 rs746690639 |
485 | R>H | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002388473 CA2320843 RCV000800116 rs745630620 |
490 | L>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM263526 CA2320840 rs146596599 RCV002393526 RCV001219736 |
493 | A>T | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs755100226 RCV002393114 CA2320837 RCV000466931 |
496 | K>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370009920 CA2320836 COSM1422870 RCV002477543 RCV002388221 RCV000689091 |
497 | R>C | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003142138 RCV001208095 RCV002393467 CA2320832 rs372716583 |
498 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377467259 CA2320834 RCV002393241 COSM76347 RCV001048985 |
498 | R>W | ovary Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771671647 RCV001247035 CA2320826 |
505 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745555704 RCV002393247 RCV001050332 CA2320825 |
506 | H>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001052099 rs2063759462 |
507 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393620 RCV001240691 CA2320823 rs368776882 |
508 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM225170 RCV002395774 RCV001349740 CA2320824 rs112774699 |
508 | R>W | Brugada syndrome NS [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002392972 rs7630989 RCV001517744 RCV000425053 VAR_020605 CA2320822 |
509 | S>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780315709 RCV001044755 CA2320817 |
510 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2320814 RCV002400172 rs200714519 RCV001040445 RCV000998050 |
512 | R>* | Brugada syndrome Variant assessed as Somatic; 4.631e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002527128 RCV001262794 rs200714519 CA2320813 RCV000496453 RCV000622755 RCV001565417 |
512 | R>G | Episodic pain syndrome, familial, 2 Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200889952 CA2320812 RCV002400283 RCV001050307 |
512 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147246725 RCV001247019 COSM1224809 RCV002402787 CA2320801 RCV002280171 |
534 | R>Q | ovary Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3696071 RCV000459881 CA2320802 rs542554745 |
534 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2320799 RCV001320121 rs556526024 |
535 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001055098 rs779182285 CA2320797 |
540 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352167303 rs1576001893 RCV000814397 |
549 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000805966 RCV000998049 rs138404783 CA145437 RCV002222378 RCV000074497 VAR_070878 RCV002399426 |
554 | L>P | Episodic pain syndrome, familial, 2 Brugada syndrome FEPS2; increases the excitability of small DRG neurons [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770276976 RCV002397408 RCV000693831 CA2320791 |
556 | Q>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs553784643 RCV000658465 RCV000466540 CA2320780 RCV003168785 |
572 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313872 rs1380478295 |
574 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472428 RCV002411452 CA16611281 rs1060501716 |
577 | L>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs535115766 RCV000702732 CA72986331 |
578 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857963 rs781705809 CA2320772 RCV000521996 RCV002413407 |
585 | S>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747486328 RCV002525558 RCV000477014 CA2320751 |
588 | D>N | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_048696 CA2320748 RCV002491004 RCV000602431 RCV000545229 rs35332705 RCV002404422 |
590 | G>R | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs764965507 CA2320746 RCV000521065 RCV002413414 RCV000696333 |
596 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002409038 rs367548480 RCV001465259 CA2320741 |
606 | R>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001206780 RCV002411762 rs367548480 CA2320742 |
606 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000692214 RCV002406567 CA2320740 rs139355449 |
607 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000456799 CA2320730 RCV002411451 RCV000479693 RCV002480388 rs151303346 |
620 | V>I | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327919 CA2320702 rs139209095 |
626 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001060910 rs772810661 CA2320691 |
644 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1553619038 RCV002536323 RCV000658264 CA352165782 |
648 | C>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2320689 rs747848559 RCV000469735 |
649 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2320688 rs201698323 RCV001698319 RCV000866711 RCV002411405 |
650 | M>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2320678 RCV002422693 rs759953813 RCV000794244 |
672 | T>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000658036 CA2320672 RCV002536320 COSM1753192 RCV002422442 rs576503650 |
676 | V>M | Brugada syndrome urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001295740 rs2063642099 |
678 | N>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352165069 RCV000529424 rs1553619005 |
684 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA72977209 RCV001296761 rs921491588 |
685 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204585 CA2320666 rs779931477 RCV000497643 COSM228036 |
688 | G>S | Brugada syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2320657 RCV001235721 rs147482520 RCV002418810 RCV003223707 |
702 | I>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2320621 RCV001759834 rs758843257 RCV001065764 RCV002429716 |
719 | F>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2320620 RCV000638666 RCV002483818 RCV002424410 COSM1044334 rs781354273 |
720 | D>N | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747114420 RCV001751487 RCV001243346 CA2320618 RCV002430033 |
721 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2320615 rs138751097 RCV001063792 RCV002429709 |
724 | Y>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220047 RCV002491687 rs373216811 CA72974479 RCV001751421 |
732 | F>S | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs910678839 CA72974470 RCV000638683 RCV002424411 |
734 | C>W | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002429862 CA2320610 RCV001202742 rs764654464 |
737 | V>I | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002429501 RCV000471529 CA2320607 rs201342036 |
741 | L>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs137906740 RCV002486446 CA2320609 RCV001350750 RCV003169738 |
741 | L>V | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1319283606 CA352164068 RCV001223979 |
753 | S>C | Brugada syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000765747 CA2320598 rs374341474 RCV002448981 RCV000638653 |
756 | R>W | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002442436 rs745659019 RCV000689393 RCV002477545 CA2320594 |
759 | R>G | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778131235 RCV000703277 COSM247201 CA2320575 |
762 | R>H | Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001773476 CA352161365 RCV001213459 rs1330358186 RCV002447083 |
769 | S>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2063486138 RCV002445356 RCV001068729 |
771 | P>A | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546619 rs758157003 CA352161318 |
771 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148851890 RCV000696265 CA352161099 RCV002442472 CA2320560 |
781 | G>R | Variant assessed as Somatic; 4.623e-05 impact. Brugada syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002489145 CA2320557 RCV000479109 RCV001370097 rs770046573 RCV002446917 |
789 | N>K | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2320553 rs779733116 RCV001341545 |
805 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779733116 CA2320552 RCV002458258 RCV000696734 RCV002249413 |
805 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs145712124 CA2320548 RCV002289755 RCV000559316 RCV000786212 RCV002448671 |
810 | G>W | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2320547 RCV000520091 RCV001372076 rs77049337 |
811 | E>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139861061 RCV000535345 RCV000485771 RCV002455919 RCV000765746 RCV002289627 CA2320543 |
814 | R>H | Episodic pain syndrome, familial, 2 Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001853391 COSM79043 rs763084100 CA2320540 RCV000490406 |
817 | R>* | ovary Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002429641 rs770101312 RCV001050051 CA2320538 |
820 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144304164 RCV001219701 CA2320535 RCV003142173 RCV002451500 COSM2986998 |
822 | A>T | lung Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2320534 RCV002497115 RCV002431588 rs747839312 RCV002274062 RCV000543559 |
822 | A>V | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM308423 RCV001699261 CA2320532 RCV000612933 rs146028829 RCV002450697 RCV000234778 |
825 | E>D | kidney Brugada syndrome haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002448672 RCV000560497 rs199535863 RCV001566062 CA2320530 |
826 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000998046 CA2320531 rs199535863 RCV000638743 RCV002448983 |
826 | D>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001316945 CA2320528 rs749000689 RCV003222304 |
828 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs939348732 CA72961972 RCV000797183 |
828 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000638698 COSM3380567 CA2320525 rs752623537 |
829 | R>H | Brugada syndrome pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP |
|
rs2063482693 RCV001059456 |
835 | F>Y | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002458417 rs768541787 RCV001535444 RCV000794482 CA2320517 |
843 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002450717 RCV001854842 CA056051 rs140158387 |
844 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000426088 rs375274122 RCV002429458 RCV001216998 CA2320513 |
852 | E>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001050521 rs2063481465 |
859 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800160 rs781073957 RCV002487689 CA2320507 |
860 | V>A | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747984594 RCV001230829 CA2320508 |
860 | V>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003159697 rs1553617020 RCV000523695 RCV001056507 RCV002506281 CA352160131 |
865 | I>V | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764470746 CA2320501 RCV000795258 RCV001759500 |
873 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2063465316 RCV001762606 RCV001351053 |
882 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2320453 RCV001051952 RCV002436604 rs370965011 |
901 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201054824 RCV000861733 RCV002495221 CA2320443 RCV002434060 COSM167234 |
913 | A>T | Episodic pain syndrome, familial, 2 Brugada syndrome large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs267599804 RCV002440923 RCV001903967 CA2320438 |
916 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001236945 RCV002436926 VAR_064748 CA2320440 COSM51893 rs370208223 |
916 | R>W | kidney Brugada syndrome Variant assessed as Somatic; 0.0 impact. prostate found in a renal cell carcinoma sample; somatic mutation [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2063463158 RCV001315939 |
922 | H>D | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267599803 RCV002433569 RCV001770073 RCV000689282 CA2320435 COSM730957 |
923 | R>C | lung Brugada syndrome Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001205620 CA2320433 rs759458296 RCV002436790 |
923 | R>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774405519 RCV001247656 CA2320432 |
927 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2320427 rs202174472 VAR_070879 RCV002436412 RCV000658478 RCV001078937 |
939 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA2320421 rs372907454 RCV002436414 RCV000468112 |
945 | P>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002436413 RCV000829976 RCV001084117 CA2320420 rs145694222 RCV000765745 |
948 | V>L | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145694222 CA352158186 RCV000638682 RCV002438694 |
948 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327825 rs755728923 RCV002546237 CA2320418 RCV002286838 |
951 | L>H | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000465972 rs370880796 CA16611480 |
952 | P>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000247107 RCV001510997 rs57326399 RCV001807023 CA2320409 RCV002433590 |
962 | I>V | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000638690 rs1553616744 |
968 | R>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067435 rs559166014 RCV002436667 CA2320399 |
979 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001222018 CA2320397 rs751340142 |
980 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002486408 RCV001346235 RCV002547056 CA2320396 rs766280701 |
989 | A>T | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000232312 CA2320395 RCV002436035 rs138413438 RCV000601861 |
991 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2320393 rs765269419 RCV001242983 |
992 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001344276 CA2320391 rs775672433 |
998 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA72960448 rs963394464 RCV001036577 |
1006 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000538054 rs751252167 CA2320379 |
1021 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002448673 CA2320377 RCV000548565 rs201106879 RCV000786214 |
1024 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2063457731 RCV001219801 |
1026 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2320351 RCV001240563 rs751664345 |
1033 | L>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001869403 CA2320348 rs773394234 |
1038 | R>S | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001322592 CA2320347 rs765623505 |
1039 | C>Y | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002320275 RCV001048817 rs147093541 CA2320345 |
1044 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000226123 RCV002321881 CA2320343 rs73062575 RCV000430868 |
1045 | P>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047893 rs771555935 |
1047 | S>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374447261 RCV000462073 CA2320339 |
1051 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1559424975 CA352156689 RCV000695738 |
1057 | L>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2320331 RCV001509211 rs750655728 RCV002322194 RCV001298826 |
1060 | S>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774803610 CA2320325 RCV000699052 |
1064 | T>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000249220 CA2320322 VAR_020606 rs6795970 RCV001807172 RCV002321929 RCV001513526 |
1073 | V>A | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745921364 CA352156493 RCV001052101 |
1079 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001704669 RCV001333543 RCV002323949 rs376528831 CA2320294 RCV000524565 |
1080 | D>N | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000253983 RCV002321930 rs12632942 RCV001510995 CA2320282 VAR_020607 RCV001807173 |
1092 | L>P | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1397301108 CA352156267 RCV000638709 |
1097 | I>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002489110 RCV002323785 RCV000610177 RCV000477565 rs148041371 CA2320281 |
1097 | I>M | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001202782 rs928529158 CA72958537 |
1100 | K>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000701172 rs771127702 RCV002325413 RCV000998040 CA2320275 |
1114 | C>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1450059546 CA352155821 RCV000541834 RCV003105947 |
1119 | C>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs146965005 RCV000638669 RCV002325234 RCV001574864 CA2320253 |
1121 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146965005 RCV002320234 RCV001036307 RCV002307656 CA2320252 |
1121 | R>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002458418 CA352155738 RCV000794510 rs1481868189 |
1125 | C>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2320245 RCV002456472 RCV001337720 rs756848600 |
1132 | K>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352155581 RCV001052641 RCV003160413 rs1278228854 |
1137 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003126888 RCV000638661 RCV002483817 CA2320241 rs143744796 RCV002458032 |
1139 | W>C | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA72957780 RCV001061375 RCV002489669 rs112412281 |
1141 | V>M | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002458035 CA2320234 RCV000638694 rs375926577 |
1147 | R>H | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001041611 RCV001593207 rs560631745 RCV002454295 CA2320231 |
1149 | V>M | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs145568435 RCV001508501 RCV000412880 RCV001861437 CA2320227 RCV002481284 RCV002460071 |
1158 | I>M | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2063398350 RCV001303358 |
1160 | F>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765744 RCV002456103 RCV003155229 RCV000554308 CA2320224 rs200713724 RCV001662548 |
1161 | M>T | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691060 CA352153567 rs1167279918 RCV001535722 |
1174 | Y>C | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs150773437 RCV000607752 RCV000225971 RCV002450698 CA2320194 |
1181 | T>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000460979 rs759842238 CA2320193 |
1184 | A>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000638803 rs201025253 CA352153295 CA2320192 |
1185 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA348189 RCV002453747 rs192493052 RCV000203899 |
1186 | L>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000803889 CA352153260 rs549879065 |
1188 | Y>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001797831 rs756162245 CA2320180 RCV001235401 |
1207 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685375 rs1559419984 |
1219 | C>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212903 CA2320176 rs774519441 |
1222 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003162857 CA352152758 rs1334180362 RCV000638727 |
1223 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002343249 CA2320173 RCV000638675 rs371834340 |
1225 | I>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001087793 rs139638446 RCV000603074 RCV002455988 RCV000514921 RCV000987251 CA2320174 |
1225 | I>T | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705203 CA2320150 rs775185585 RCV002352209 |
1231 | I>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147130891 COSM76346 RCV002348490 RCV001071767 CA2320149 |
1231 | I>T | ovary Brugada syndrome Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs765984332 RCV002348139 RCV000416156 RCV001851010 CA2320143 |
1235 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061624 CA16617957 rs960602539 RCV000485752 RCV002350079 |
1238 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002348443 RCV001061270 rs764555780 CA2320135 |
1248 | A>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002348680 rs202134330 RCV001207718 CA2320134 |
1250 | R>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA349089 RCV002363033 rs774893568 COSM284813 RCV000204898 |
1250 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002348714 RCV001215054 CA2320131 rs145909172 |
1253 | R>C | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001333544 CA352151563 rs1280130231 RCV001865786 |
1256 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747044382 RCV002343251 RCV000638742 COSM247200 CA2320126 |
1256 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002348338 CA2320123 rs765230695 RCV001038403 RCV001759944 |
1259 | R>W | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001770429 rs779316495 RCV000531833 RCV002350240 CA2320122 |
1260 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001469689 CA2320119 RCV002363308 RCV000876818 rs199892190 |
1266 | G>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs774337248 RCV001325553 RCV002366201 CA2320115 RCV001760416 RCV002493702 |
1267 | M>R | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001000659 RCV000987250 RCV002356298 RCV000418561 CA2320112 rs138832868 RCV001080967 RCV000786211 |
1268 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1362890643 RCV000818420 CA352151384 |
1274 | L>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001858873 CA2320083 RCV002363524 RCV000998036 rs200324539 |
1280 | S>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1006794198 RCV001304356 RCV002366146 |
1282 | M>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2320079 rs145032037 RCV001316345 |
1287 | V>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145032037 CA2320078 RCV000723645 RCV003137621 RCV001080181 RCV002354280 |
1287 | V>I | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000865260 RCV002352528 rs779527264 CA2320075 |
1296 | S>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1044327 VAR_070882 RCV000074498 RCV001318345 CA145439 rs142173735 |
1304 | A>T | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium FEPS2; increases the excitability of small DRG neurons [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002485635 COSM187325 CA2320068 rs147640811 RCV002369853 RCV000690253 |
1315 | D>N | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000735256 COSM1044326 rs756046052 CA2320060 |
1324 | S>L | Brugada syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000694674 CA352150943 rs1372622252 |
1330 | S>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA352150929 RCV001759397 rs1559415879 RCV000701578 |
1331 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001085860 RCV000428262 RCV000224393 rs11711062 CA2320055 RCV002354624 |
1337 | S>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375458594 CA2320044 RCV000539988 RCV002323950 |
1355 | M>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002323951 CA2320017 rs748854017 RCV000552485 |
1365 | T>N | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2063266357 RCV001301155 |
1369 | W>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2320015 RCV001208880 RCV002322020 rs376193439 |
1371 | D>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA352150212 RCV001242314 rs1131691400 RCV000493315 |
1373 | M>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1160216765 RCV001241238 |
1374 | Y>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149155352 RCV000638744 CA2320008 RCV002331152 RCV002477407 RCV001571756 |
1380 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340955 rs371600996 CA2320009 RCV002329315 |
1380 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352149999 rs1559414230 RCV000705757 |
1384 | M>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756253735 RCV000558477 RCV000579049 CA2319989 RCV002330860 |
1388 | W>* | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA72949346 rs767699386 RCV001236070 |
1391 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002329041 RCV000457590 rs539215014 CA2319986 |
1392 | V>M | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs572843309 RCV001240558 CA72949304 |
1401 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559414131 RCV000678916 |
1401 | F>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638717 CA2319979 RCV002331151 rs140825889 |
1403 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319977 rs201280426 RCV001216610 |
1406 | G>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060501715 CA16611478 RCV000461535 |
1407 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769359391 RCV001223469 |
1411 | N>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685171 RCV002223903 RCV003163094 CA352149573 rs1334461772 |
1422 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001038160 CA2319940 rs760268052 RCV002327258 |
1432 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2319937 rs759286277 RCV000804642 |
1435 | M>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056056 rs1278000627 |
1436 | T>R | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460457 RCV002329042 rs762798134 CA2319933 |
1443 | Y>H | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1420782164 RCV001046877 RCV001796352 |
1448 | K>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002332614 RCV000798732 CA2319921 rs369399424 |
1460 | R>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000471987 rs369399424 RCV002329116 RCV001704571 CA2319920 |
1460 | R>Q | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319923 RCV000604482 RCV000233191 rs148619598 RCV002327135 |
1460 | R>W | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001071956 rs2063220383 |
1461 | P>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001785617 RCV000469463 rs199931920 RCV002329040 CA2319897 |
1466 | Q>* | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs532793715 RCV001349065 |
1469 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706191 CA352147143 rs1559409413 |
1474 | T>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352146977 RCV002327472 rs1406169129 RCV001206622 |
1480 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771215180 RCV001037007 CA2319890 RCV001759940 RCV002327253 |
1482 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352146755 RCV000702104 rs1199205585 |
1490 | M>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000697894 RCV001568539 rs184521520 RCV002493213 CA2319882 RCV002334335 |
1505 | T>M | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM187320 CA2319875 RCV002334094 RCV000638676 rs202040659 RCV001551133 |
1518 | V>I | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001061274 rs2063160638 |
1519 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341666 RCV002261338 rs763221534 CA2319872 RCV001322793 |
1523 | C>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA350331 VAR_070883 RCV002336569 RCV000206267 RCV001795337 RCV001722133 rs142217269 |
1523 | C>Y | Brugada syndrome no gain in function in response to depolarization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373085099 RCV002336685 RCV003223679 CA2319869 RCV000814320 |
1525 | M>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369978695 CA2319867 RCV001062216 RCV002339306 RCV001836942 |
1527 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs757916036 CA352145915 RCV001312731 |
1529 | A>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002339151 RCV000469370 rs757916036 RCV003139653 CA2319865 |
1529 | A>T | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2319860 RCV002341229 RCV000687974 rs377492327 RCV000523387 |
1547 | V>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA72945448 rs762610159 RCV000807060 |
1548 | V>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000998032 RCV002327136 RCV000233013 rs756133876 RCV000765743 CA2319859 |
1552 | A>V | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000227973 CA2319835 rs754130748 |
1555 | I>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1559407312 CA352155991 RCV000697039 |
1558 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs369399641 RCV001348569 CA72947589 |
1559 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000638772 RCV000611942 RCV002334008 CA2319833 rs200063383 |
1565 | S>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001567329 CA2319831 COSM187319 rs772484960 RCV000530028 RCV002483405 RCV002341306 |
1570 | T>M | Episodic pain syndrome, familial, 2 Brugada syndrome Variant assessed as Somatic; 0.0 impact. pancreas large_intestine central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001235180 RCV001760244 rs1293275271 |
1574 | V>I | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064796379 RCV002526662 CA16617955 RCV000482843 |
1575 | I>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM187318 RCV002339243 RCV001048337 rs781118074 CA2319823 |
1579 | R>Q | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine skin endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000638737 CA2319822 rs569261408 RCV002334100 |
1582 | R>C | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000417575 CA2319817 RCV002506031 RCV001306470 rs376439863 |
1588 | R>Q | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002531119 RCV002483667 rs1191414961 RCV001697420 RCV002341536 |
1593 | I>missing | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2319810 RCV002289941 rs762600386 RCV002334095 RCV000638680 |
1593 | I>F | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA2319809 RCV001298707 RCV002341589 RCV002476386 rs373347787 |
1594 | R>C | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001059605 CA2319807 rs747919920 RCV002339297 |
1595 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002461932 rs777980971 CA2319800 RCV002483741 RCV002334032 RCV001231916 RCV000623531 |
1611 | G>R | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375940680 RCV001704586 RCV002341126 RCV000577983 RCV000578045 RCV002496851 CA2319796 |
1617 | V>F | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1575917442 CA352155414 RCV000823516 RCV003169053 |
1618 | M>L | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002223944 RCV000797967 rs767025015 RCV002334498 CA2319794 |
1619 | F>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA915942363 RCV000798638 rs1575917354 |
1623 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553613078 RCV000559737 |
1625 | G>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371337228 RCV000533644 CA2319787 RCV001591225 CA2319786 RCV002330861 |
1626 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA352155272 rs1279255819 RCV002563824 RCV001235260 |
1628 | S>I | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs771997067 RCV001308359 CA2319783 |
1631 | H>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000493698 RCV002350102 RCV001856972 CA2319779 rs368582725 |
1639 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774186159 RCV002341649 RCV001318100 |
1641 | M>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336699 RCV000819311 CA2319774 rs780649338 |
1650 | S>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2319765 RCV002341091 VAR_070884 RCV000987249 rs151090729 RCV002496819 RCV000613459 RCV002254167 RCV000466946 |
1662 | G>S | Episodic pain syndrome, familial, 2 Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319754 rs564943632 RCV001067815 |
1675 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs748973626 RCV001213179 |
1677 | Y>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1575916731 RCV000817507 CA352154808 |
1679 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146999807 RCV002341308 RCV002483406 RCV000550795 CA2319749 RCV000616544 |
1683 | P>S | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000230812 RCV002338748 RCV002274943 CA2319736 RCV000438285 rs77804526 |
1697 | V>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201985536 CA2319735 RCV002336627 RCV000804108 |
1698 | G>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001221932 rs2063114690 RCV002348741 |
1711 | L>F | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987248 RCV002338804 RCV001513524 RCV000254499 CA2319731 VAR_020608 RCV001807175 rs6599241 |
1713 | M>V | Episodic pain syndrome, familial, 2 Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553612991 CA352154423 RCV000624379 |
1714 | V>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000638662 rs777258179 CA352154415 |
1715 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777258179 RCV002286769 RCV002334099 CA2319730 RCV000638721 |
1715 | N>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767177596 RCV001295615 CA2319727 CA2319728 |
1726 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001350127 CA2319725 RCV001762602 COSM446449 RCV002341732 rs751384151 |
1729 | T>M | Episodic pain syndrome, familial, 2 Brugada syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002334096 CA2319721 rs200645452 RCV001591425 RCV000638687 RCV002507083 |
1734 | E>K | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341524 rs2063113172 |
1737 | S>G | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794772 rs1575916146 CA915942362 |
1739 | D>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352154251 rs1445722582 RCV001052131 |
1740 | D>N | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002531482 rs145589241 RCV000693952 CA2319714 |
1750 | K>R | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs138532656 CA72947098 RCV000688526 |
1752 | D>E | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs552795944 RCV001347658 |
1755 | A>G | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346543 CA352154116 rs1226335596 |
1759 | I>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2319706 rs758177964 RCV001058149 |
1762 | S>F | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2319702 RCV000699863 rs369137515 RCV002343518 COSM3728288 RCV002060879 |
1765 | S>L | Brugada syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001337155 rs769329264 |
1770 | T>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372368062 CA2319690 RCV000638700 RCV002343250 |
1781 | N>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375735101 RCV003223716 CA2319685 RCV002350556 RCV001307097 |
1789 | D>N | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2319681 RCV002350241 RCV000534987 rs371803816 |
1791 | P>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001773557 rs1559405898 CA352153422 COSM1044315 RCV001245283 |
1814 | E>* | Brugada syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001302619 rs2063107708 |
1820 | S>F | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795309 rs1201354997 CA352153324 |
1823 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000817408 RCV001815481 RCV002345875 rs772082757 |
1827 | E>missing | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757155232 RCV001071955 CA2319666 |
1827 | E>K | Brugada syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002348679 CA2319663 RCV001207703 rs777591347 |
1839 | Y>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000799130 RCV000523173 CA2319658 RCV002490920 RCV002350155 rs199503439 |
1847 | R>* | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319657 RCV002350244 rs148537653 RCV000549095 RCV003114658 COSM3408646 |
1847 | R>Q | Brugada syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1575914976 RCV000817494 CA352153032 |
1848 | W>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000638663 RCV002506197 rs149504103 CA2319656 RCV002350103 RCV000494167 |
1850 | Q>* | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001319954 rs370779258 RCV002350588 CA72946829 COSM187317 |
1863 | R>W | Brugada syndrome Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA72946820 rs377518708 RCV002348779 RCV001232023 |
1865 | Y>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319643 RCV002345843 RCV000811477 rs373299553 |
1867 | L>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002350245 RCV000525217 rs115463830 CA2319642 |
1868 | H>P | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001700131 RCV000542355 CA2319641 rs141648641 RCV002350062 |
1869 | R>C | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319639 RCV001053077 rs370483003 |
1871 | M>I | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759136534 RCV002348249 RCV000802322 RCV000417802 CA2319633 |
1876 | T>A | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002480696 RCV002348689 rs143523403 CA2319630 RCV001210727 |
1877 | P>L | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319631 RCV000820293 rs770710528 COSM3380565 |
1877 | P>S | Brugada syndrome pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs148979438 CA72946772 RCV000803401 |
1886 | A>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs142653846 RCV000987247 CA2319627 RCV002345396 RCV000591685 RCV000554968 |
1886 | A>V | Brugada syndrome Brugada syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001045076 rs2063103746 |
1888 | S>T | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2063103684 RCV001232338 |
1891 | D>Y | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352152584 rs1195353680 RCV001246887 |
1893 | G>S | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002493160 rs747321219 RCV002343439 RCV000688218 RCV001508498 |
1899 | A>missing | Episodic pain syndrome, familial, 2 Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352152539 RCV000638681 rs1265687114 |
1900 | N>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002350630 RCV001343961 rs764330725 CA2319619 |
1900 | N>K | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2319618 RCV000231202 rs756547221 |
1902 | N>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1047449169 CA72946703 RCV000823696 RCV001759621 |
1919 | P>L | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002552483 rs778955408 RCV001039169 |
1921 | Y>F | Brugada syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002354798 rs752180138 CA2319595 RCV000934771 |
1930 | D>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003160198 rs2063100815 RCV001034789 |
1940 | I>M | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243524 rs2063100701 |
1943 | E>* | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372702302 CA2319586 RCV000441452 RCV002356617 RCV000456511 |
1945 | E>G | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2319583 rs770070419 RCV001057453 RCV002355050 |
1953 | A>V | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003104622 CA352152190 rs1575913891 |
1955 | G>R | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2319581 RCV002358494 RCV000531139 rs748441157 |
1956 | P>T | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 2 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2321322 rs781089009 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2321321 rs557317287 |
5 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352163555 rs1156489183 |
5 | I>V | No |
ClinGen gnomAD |
|
|
CA352163541 rs1486527017 |
6 | G>R | No |
ClinGen TOPMed |
|
|
CA72963614 rs201415200 |
11 | N>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2321319 rs537640883 |
11 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352163468 rs1209324221 |
12 | N>D | No |
ClinGen gnomAD |
|
|
CA72963611 rs981530434 |
13 | F>Y | No |
ClinGen gnomAD |
|
|
CA352163433 rs754392803 |
15 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754392803 CA2321314 |
15 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2321313 rs763455818 |
15 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352163419 rs1432009058 |
16 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1443029802 CA352163404 |
17 | T>A | No |
ClinGen TOPMed |
|
|
CA352163378 rs190176472 |
18 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322802155 CA352163382 |
18 | P>S | No |
ClinGen gnomAD |
|
|
CA352163320 rs1456404908 |
23 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2321308 rs773989494 |
24 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160387185 CA352163307 |
24 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs367571651 CA2321307 COSM1738887 |
27 | Q>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2321306 rs749126779 |
29 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452309366 CA352163175 |
34 | T>A | No |
ClinGen gnomAD |
|
|
CA352163171 rs1025338659 |
34 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA72963561 rs1025338659 |
34 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs570161889 CA2321304 |
39 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747084510 CA72963559 |
41 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780164986 TCGA novel CA2321302 |
42 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA352163022 rs1373042549 |
45 | K>M | No |
ClinGen gnomAD |
|
|
rs1575184008 CA352163018 |
45 | K>N | No |
ClinGen Ensembl |
|
|
rs1317981802 CA352162995 |
47 | Q>R | No |
ClinGen gnomAD |
|
|
CA72963553 rs368338265 |
48 | E>D | No |
ClinGen Ensembl |
|
|
rs1433639626 CA352162988 |
48 | E>K | No |
ClinGen gnomAD |
|
|
rs866362615 CA72963551 |
49 | E>K | No |
ClinGen gnomAD |
|
|
CA352162973 rs866362615 |
49 | E>Q | No |
ClinGen gnomAD |
|
|
CA2321296 rs778340868 |
52 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754234000 CA2321297 |
52 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752235456 CA352162919 |
53 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2321294 rs752235456 |
53 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352162917 rs1559469178 |
54 | Q>* | No |
ClinGen Ensembl |
|
|
rs763817509 CA2321293 |
55 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2321292 rs759227621 |
56 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 59 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762808748 CA2321289 |
60 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA352162812 CA352162810 rs1440527140 |
61 | N>K | No |
ClinGen gnomAD |
|
|
rs1251803173 CA352162809 |
62 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72963509 rs1028618421 |
65 | K>R | No |
ClinGen gnomAD |
|
|
rs199812598 CA2321287 |
66 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761786138 CA2321286 |
66 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352162735 rs1308883210 |
67 | Y>C | No |
ClinGen gnomAD |
|
|
CA352162721 rs1227118356 |
68 | G>D | No |
ClinGen gnomAD |
|
|
CA2321285 rs775516663 |
69 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2321284 rs772170435 |
71 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1044354 CA352162658 rs1333951004 |
73 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1435652224 CA352162646 |
74 | L>M | No |
ClinGen gnomAD |
|
|
rs1200209497 CA352162628 |
75 | I>S | No |
ClinGen TOPMed |
|
|
CA2321280 CA352162620 rs749652481 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352162611 rs1429242461 |
77 | E>Q | No |
ClinGen gnomAD |
|
|
CA2321277 rs753292241 |
78 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780804421 CA2321276 |
78 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352162596 rs753292241 |
78 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053152886 CA72963487 |
80 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766047928 COSM172305 CA2321273 |
87 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762568013 CA2321272 |
87 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443796927 CA352162481 |
87 | S>R | No |
ClinGen gnomAD |
|
|
rs1274546439 CA352162468 |
88 | T>A | No |
ClinGen gnomAD |
|
|
CA352162462 rs1226072923 |
88 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352162440 rs1284416574 |
90 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2321258 rs781764568 |
92 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286871655 CA352161592 |
93 | M>K | No |
ClinGen gnomAD |
|
|
CA352161453 rs1434479522 |
97 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM1692582 CA352161448 rs1322189440 |
98 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1326877942 CA352161414 |
99 | R>G | No |
ClinGen gnomAD |
|
|
rs758035498 CA2321254 |
100 | T>I | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866597161 CA352161306 |
102 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs866597161 CA72962607 |
102 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 105 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 105 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471527204 CA352161171 |
106 | A>V | No |
ClinGen TOPMed |
|
|
CA352161140 rs1131691525 |
108 | R>G | No |
ClinGen gnomAD |
|
|
COSM3408649 RCV000493475 rs1131691525 CA352161136 RCV002323855 |
108 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA72962576 rs1043114273 |
111 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2321249 rs764007884 |
111 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1317884608 CA352160979 |
114 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2321248 rs760579685 |
115 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA72962563 rs947179485 |
116 | F>S | No |
ClinGen TOPMed |
|
|
rs774462243 CA2321247 |
117 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299061693 CA352160866 |
117 | N>S | No |
ClinGen TOPMed |
|
|
rs989355332 CA352160855 |
118 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs989355332 CA352160853 |
118 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1443123896 CA352160797 |
120 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2321245 rs142884499 |
122 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142884499 CA2321246 |
122 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575521978 CA352160729 |
124 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777191601 CA2321241 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2321239 rs747508932 |
125 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1352742342 CA352160691 |
126 | V>A | No |
ClinGen TOPMed |
|
|
CA352160679 rs1216988091 |
127 | S>C | No |
ClinGen TOPMed |
|
|
CA352160682 rs1395549928 |
127 | S>P | No |
ClinGen gnomAD |
|
|
rs1314701591 CA352160016 |
131 | W>* | No |
ClinGen gnomAD |
|
|
CA72961331 rs1053499924 |
133 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748973627 CA2321216 |
133 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1006768253 CA72961330 |
134 | L>* | No |
ClinGen Ensembl |
|
|
rs1168009514 CA352159998 |
134 | L>V | No |
ClinGen gnomAD |
|
|
rs372138097 CA2321214 |
136 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752618492 CA2321213 |
137 | T>S | No |
ClinGen ExAC TOPMed |
|
|
CA352159959 rs1045236727 |
139 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA72961315 rs1045236727 |
139 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA72961310 rs530038819 |
140 | I>N | No |
ClinGen Ensembl |
|
|
CA352159923 rs750505680 |
142 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2321210 rs750505680 |
142 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA352159930 rs1575180317 |
142 | V>I | No |
ClinGen Ensembl |
|
|
CA352159901 rs1314478944 |
144 | C>F | No |
ClinGen gnomAD |
|
|
rs1314478944 CA2321208 |
144 | C>S | No |
ClinGen gnomAD |
|
|
rs367751260 CA2321207 |
145 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2321206 rs762085792 |
146 | C>Y | No |
ClinGen ExAC |
|
|
CA2321202 rs149491608 |
151 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2321201 rs772436481 |
152 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2321199 rs773812695 |
156 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899184068 CA72954446 |
160 | F>L | No |
ClinGen TOPMed |
|
|
rs767957891 CA2321183 |
161 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1208664844 CA352156473 |
165 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1327837307 CA352156482 |
165 | T>P | No |
ClinGen TOPMed |
|
|
RCV000497602 rs1553623239 |
166 | F>missing | No |
ClinVar dbSNP |
|
|
CA2321179 rs558639346 |
168 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765812732 CA2321180 |
168 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352156435 rs558639346 |
168 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1223349313 TCGA novel CA352156422 |
169 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs761597194 CA72954434 |
170 | I>L | No |
ClinGen Ensembl |
|
|
rs769305453 CA2321177 |
170 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352156403 rs1440914322 |
171 | K>R | No |
ClinGen gnomAD |
|
|
CA2321176 rs747872827 |
175 | R>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1044349 CA2321175 rs776247771 |
176 | G>E | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs373947111 CA2321174 |
178 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2321171 rs142203439 |
181 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2321172 rs746883877 |
181 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778169470 CA72954410 |
183 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA72954406 rs751101455 |
184 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1049447110 CA72954404 |
185 | L>P | No |
ClinGen Ensembl |
|
|
CA352156228 rs1049447110 |
185 | L>R | No |
ClinGen Ensembl |
|
|
CA72954402 rs932283233 |
186 | R>S | No |
ClinGen Ensembl |
|
|
CA2321167 rs756251559 |
187 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2321168 rs777950383 |
187 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2321166 rs767815241 |
188 | P>S | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352156186 rs1379282429 |
189 | W>R | No |
ClinGen TOPMed |
|
|
CA2321162 rs766854459 |
190 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763559997 CA2321161 |
191 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA352156120 rs1575166708 |
193 | D>G | No |
ClinGen Ensembl |
|
|
CA352156087 rs1234455440 |
195 | S>N | No |
ClinGen gnomAD |
|
|
COSM187343 rs1294999278 CA352156079 |
196 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761321050 CA2321158 |
198 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs956822774 CA72997195 |
201 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1195147442 CA352172241 |
201 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | I>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002367745 CA2321129 RCV000523839 rs377716847 |
207 | D>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs964407975 CA352172185 |
207 | D>G | No |
ClinGen TOPMed |
|
|
rs964407975 CA72997167 |
207 | D>V | No |
ClinGen TOPMed |
|
|
CA352172188 rs1454410857 |
207 | D>Y | No |
ClinGen TOPMed |
|
|
CA2321128 rs138262927 |
209 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352172138 rs779471280 |
212 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779471280 CA2321124 |
212 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352172116 rs1417349620 |
215 | R>Q | No |
ClinGen gnomAD |
|
|
CA2321122 rs774876702 |
215 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370544343 CA352172113 |
216 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 218 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2321120 rs760354089 |
222 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352172035 rs1303578110 |
223 | L>S | No |
ClinGen TOPMed |
|
|
CA352172028 rs1305821703 |
224 | K>E | No |
ClinGen TOPMed |
|
|
CA352172019 rs1470238053 |
224 | K>N | No |
ClinGen gnomAD |
|
|
CA352172014 rs1234149977 |
225 | T>I | No |
ClinGen gnomAD |
|
|
CA72997094 rs903814344 |
225 | T>P | No |
ClinGen TOPMed |
|
|
CA352171988 rs141368548 CA72997064 |
228 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559451781 CA352171974 |
229 | I>M | No |
ClinGen Ensembl |
|
|
CA2321118 rs370200847 |
229 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147844607 CA352171971 |
230 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72995189 rs200583405 |
232 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2321091 rs772316620 |
233 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1379458295 CA352171854 |
234 | V>F | No |
ClinGen TOPMed |
|
|
rs1433615694 CA352171829 |
238 | A>S | No |
ClinGen gnomAD |
|
|
CA2321085 rs140292361 |
243 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576999040 CA2321084 |
244 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780602857 CA2321083 |
245 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1209323370 CA352171782 |
245 | K>N | No |
ClinGen gnomAD |
|
|
rs1347727821 CA352171777 |
246 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751196812 CA2321081 |
248 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2321082 rs754623438 |
248 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1306046476 CA352171764 |
249 | V>M | No |
ClinGen gnomAD |
|
|
CA352171758 rs1295125392 |
250 | T>P | No |
ClinGen gnomAD |
|
|
CA352171729 rs1559450290 |
254 | I>M | No |
ClinGen Ensembl |
|
|
CA2321080 rs766143752 |
254 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310798272 CA352171716 |
256 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750288334 CA2321078 |
259 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA352171661 rs1372213955 |
265 | L>V | No |
ClinGen gnomAD |
|
|
CA352171657 rs1170668596 |
266 | Q>K | No |
ClinGen gnomAD |
|
|
rs908773400 CA72995065 |
267 | L>H | No |
ClinGen TOPMed |
|
|
rs908773400 CA72995056 |
267 | L>P | No |
ClinGen TOPMed |
|
|
rs1175162314 CA352171629 |
270 | G>S | No |
ClinGen TOPMed |
|
|
CA352171623 rs1186204399 |
271 | N>D | No |
ClinGen gnomAD |
|
|
rs375401531 CA2321072 |
271 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2321071 rs759744820 |
273 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352171586 rs1479682432 |
276 | C>R | No |
ClinGen gnomAD |
|
|
CA2321069 rs142124216 |
277 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352171556 rs1320222905 |
280 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA352171558 rs1320222905 |
280 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749655279 CA2321067 |
282 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs749655279 CA2321068 |
282 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2321066 rs773757900 |
282 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2321065 rs770389881 |
283 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA352171514 rs147150438 |
286 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779570073 CA2321060 |
287 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA72994930 rs779570073 |
287 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779570073 CA352171510 |
287 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2321059 rs758105444 |
290 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72994916 rs758105444 |
290 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352171487 rs1190198136 |
291 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1190198136 CA352171489 |
291 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2321058 rs750196811 |
294 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2321035 rs751271372 |
296 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2321033 rs553913580 |
297 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751558593 CA2321034 |
297 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370912250 COSM3392389 CA2321032 |
301 | K>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1168396269 CA352170930 COSM79044 |
302 | R>* | ovary Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA352170927 rs201955990 COSM1422873 |
302 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762083371 CA2321029 |
303 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352170909 rs762083371 |
303 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576014108 CA352170898 RCV000998051 |
304 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs777112698 CA2321028 |
306 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1264648115 CA352170849 |
307 | P>L | No |
ClinGen TOPMed |
|
|
rs761285678 CA2321026 |
307 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388333952 CA352170823 |
309 | L>P | No |
ClinGen Ensembl |
|
|
rs745457404 CA2321023 |
310 | C>G | No |
ClinGen ExAC |
|
|
CA352170814 rs745457404 |
310 | C>R | No |
ClinGen ExAC |
|
|
CA2321021 rs773986296 |
310 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762473664 CA2321020 |
311 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777661319 CA2321018 |
312 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1438943055 CA352170773 |
312 | N>S | No |
ClinGen TOPMed |
|
|
CA72994322 rs1028863903 |
313 | G>* | No |
ClinGen gnomAD |
|
|
CA352170708 rs1397498242 |
316 | S>A | No |
ClinGen gnomAD |
|
|
CA352170301 rs199715855 |
319 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2321001 rs373391820 |
322 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320999 rs769640361 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 327 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889763116 CA72991682 |
328 | T>A | No |
ClinGen Ensembl |
|
|
CA352170223 rs1360994164 |
330 | D>E | No |
ClinGen gnomAD |
|
|
CA352170221 rs1326895485 |
331 | N>H | No |
ClinGen gnomAD |
|
|
CA352170216 rs1424135069 |
331 | N>I | No |
ClinGen TOPMed |
|
|
rs1424135069 CA352170217 |
331 | N>S | No |
ClinGen TOPMed |
|
|
rs748034773 CA2320998 |
332 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72991643 rs781360926 |
333 | D>E | No |
ClinGen Ensembl |
|
|
rs755026641 CA2320996 |
333 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA72991635 rs966272776 RCV000489557 |
335 | N>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA352170175 rs1576009792 |
337 | T>S | No |
ClinGen Ensembl |
|
|
CA2320995 rs745922042 |
338 | S>G | No |
ClinGen ExAC |
|
|
rs779091257 CA2320994 |
340 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA72991628 rs867045779 |
340 | D>N | No |
ClinGen Ensembl |
|
|
CA352170135 rs1182352973 |
343 | A>V | No |
ClinGen gnomAD |
|
|
CA2320993 rs757382094 |
344 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1203125052 CA352170122 |
345 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754113034 CA2320992 |
347 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA352170100 rs1231818823 |
348 | S>L | No |
ClinGen gnomAD |
|
|
CA2320991 rs764298098 |
350 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767987787 CA2320989 |
351 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352170061 rs1391585391 |
355 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs760073097 CA2320987 |
356 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs866241905 CA72991583 |
357 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2320986 rs773808340 |
360 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762451403 CA2320985 |
360 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352170023 rs1378014700 |
361 | L>F | No |
ClinGen gnomAD |
|
|
rs772926214 CA2320983 |
363 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs754960592 CA72991347 |
365 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320957 rs754960592 |
365 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342841269 CA352169961 |
368 | T>I | No |
ClinGen gnomAD |
|
|
CA352169955 rs1175974495 |
369 | S>F | No |
ClinGen TOPMed |
|
|
rs536859847 CA2320953 |
372 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352169933 rs1356480365 |
373 | Y>H | No |
ClinGen TOPMed |
|
|
rs867785573 CA72991284 |
374 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs780073349 CA72991308 |
374 | M>K | No |
ClinGen Ensembl |
|
|
rs1349493723 CA352169920 |
375 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA72991275 rs867151152 |
377 | F>L | No |
ClinGen TOPMed |
|
|
rs1295265728 CA352169903 |
377 | F>S | No |
ClinGen TOPMed |
|
|
rs1364202423 CA352169893 |
378 | V>G | No |
ClinGen TOPMed |
|
|
rs1362320697 CA352169869 |
382 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177765772 CA352169831 |
389 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760504745 CA2320944 |
391 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2320943 rs191389107 |
396 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1193310633 CA352169780 |
397 | T>A | No |
ClinGen gnomAD |
|
|
rs1265956514 CA352169771 |
398 | M>I | No |
ClinGen gnomAD |
|
|
rs551816827 CA352169774 |
398 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs978338746 CA72991202 |
398 | M>T | No |
ClinGen Ensembl |
|
|
rs551816827 CA2320942 |
398 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1256859821 CA352169755 |
401 | E>K | No |
ClinGen gnomAD |
|
|
CA2320939 rs769871282 |
404 | N>K | No |
ClinGen ExAC |
|
|
rs1219004051 CA352169705 |
407 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1219004051 CA352169707 |
407 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352169700 rs1576009002 |
408 | T>I | No |
ClinGen Ensembl |
|
|
CA2320937 rs748299503 |
408 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA352169453 rs1402327130 |
409 | D>E | No |
ClinGen gnomAD |
|
|
CA2320936 rs201174558 |
409 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768926509 CA2320935 |
410 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 410 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954095804 CA72991146 |
411 | I>T | No |
ClinGen Ensembl |
|
|
rs1473080019 CA352169423 |
412 | E>K | No |
ClinGen Ensembl |
|
|
CA352169407 rs1353501005 |
413 | A>T | No |
ClinGen gnomAD |
|
|
rs780326732 CA2320933 |
414 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140123977 CA72991108 |
416 | K>R | No |
ClinGen ESP |
|
| TCGA novel | 417 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2063810129 RCV001200159 |
420 | E>G | No |
ClinVar dbSNP |
|
|
CA352169278 rs1256986487 |
421 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1423689567 CA352169286 |
421 | A>T | No |
ClinGen gnomAD |
|
|
rs778511014 CA2320929 |
422 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1319710057 CA352169255 |
423 | E>D | No |
ClinGen gnomAD |
|
|
CA2320927 rs748821446 |
423 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763814663 CA2320926 |
423 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293454955 CA352169233 |
425 | L>V | No |
ClinGen TOPMed |
|
|
CA352169183 rs62244070 |
428 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2320920 rs766367727 |
429 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1331566750 CA352169175 |
429 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776744339 CA2320918 |
430 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2320919 rs761871771 |
430 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576007568 CA352169105 |
431 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 435 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352169076 rs1233050566 COSM1537901 |
436 | G>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1273852097 CA352169079 |
436 | G>R | No |
ClinGen gnomAD |
|
|
CA352169074 rs772406653 |
437 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772406653 CA2320893 |
437 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320892 rs759955803 |
438 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360385154 CA352169057 |
439 | T>I | No |
ClinGen gnomAD |
|
|
rs1018712886 CA72990365 |
440 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1018712886 CA72990366 |
440 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2320890 rs771524228 |
440 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320889 rs749835090 |
444 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749835090 CA72990323 |
444 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs888821595 CA72990310 |
446 | N>S | No |
ClinGen gnomAD |
|
|
rs865947577 CA72990299 |
447 | G>R | No |
ClinGen Ensembl |
|
|
CA2320887 rs769187039 |
448 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs775188334 CA72990295 |
448 | S>P | No |
ClinGen Ensembl |
|
|
CA352169000 rs1459887240 |
449 | P>L | No |
ClinGen TOPMed |
|
|
CA352168996 rs1477460829 |
450 | L>S | No |
ClinGen gnomAD |
|
|
rs747758544 CA2320886 |
451 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA72990266 rs898730949 |
452 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1039004616 CA72990250 |
455 | A>D | No |
ClinGen Ensembl |
|
|
CA2320885 rs780692388 |
456 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751326575 CA2320883 |
457 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1576007359 CA352168946 |
458 | R>K | No |
ClinGen Ensembl |
|
|
rs1286879566 CA352168937 |
459 | R>K | No |
ClinGen TOPMed |
|
|
rs545511554 CA72990193 |
459 | R>S | No |
ClinGen Ensembl |
|
|
rs1217168259 CA352168931 |
460 | H>R | No |
ClinGen gnomAD |
|
|
CA2320881 rs201575317 |
463 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320880 rs750374458 |
464 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373895507 CA2320878 |
467 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352168879 rs1415257347 |
468 | E>G | No |
ClinGen gnomAD |
|
|
rs1464883195 CA352168866 |
469 | G>A | No |
ClinGen gnomAD |
|
|
CA352168871 rs1168358589 |
469 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2320876 rs767602286 |
472 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553620983 CA2320868 COSM1422871 |
478 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA352168756 rs1576007145 |
479 | S>C | No |
ClinGen Ensembl |
|
|
CA352168731 rs1259053793 |
481 | P>R | No |
ClinGen gnomAD |
|
|
CA352168738 rs1317657047 |
481 | P>T | No |
ClinGen gnomAD |
|
|
CA2320867 rs150383700 |
482 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352168709 rs1474305258 |
483 | N>S | No |
ClinGen TOPMed |
|
|
CA352168694 rs1164262773 |
484 | Q>P | No |
ClinGen TOPMed |
|
|
rs1559446220 CA352168679 COSM1692576 |
486 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1342532542 CA352168664 |
487 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771771881 CA2320844 |
488 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1377852956 CA352167795 |
489 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352167782 rs1333189383 |
490 | L>I | No |
ClinGen gnomAD |
|
|
CA352167767 rs1462468438 |
491 | G>A | No |
ClinGen TOPMed |
|
|
CA542615841 rs1559444196 |
493 | A>* | No |
ClinGen Ensembl |
|
|
rs866085887 CA72986654 |
495 | G>E | No |
ClinGen Ensembl |
|
|
CA2320835 rs766682646 |
497 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352167703 rs370009920 |
497 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377467259 CA352167696 |
498 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320833 rs372716583 |
498 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2320831 rs762173213 |
499 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777204274 CA352167681 |
500 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2320830 rs777204274 |
500 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1453769486 CA352167676 |
501 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1327172629 CA352167664 |
502 | G>D | No |
ClinGen TOPMed |
|
|
rs764652287 CA2320829 |
503 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1311697487 CA352167658 |
503 | S>R | No |
ClinGen gnomAD |
|
|
rs760165295 CA2320828 |
504 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217311568 CA352167656 |
504 | V>M | No |
ClinGen gnomAD |
|
|
CA2320821 rs777835811 |
509 | S>F | No |
ClinGen ExAC |
|
|
rs747051634 CA2320818 |
510 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750676187 CA2320815 |
511 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758503519 CA2320816 |
511 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267599806 CA2320811 |
515 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369629253 CA2320810 |
519 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72986479 rs753205323 |
521 | T>I | No |
ClinGen Ensembl |
|
|
rs752151307 CA2320809 |
522 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1208322324 CA352167551 |
522 | D>V | No |
ClinGen gnomAD |
|
|
rs1199418291 CA352167531 |
525 | V>G | No |
ClinGen TOPMed |
|
|
CA2320808 rs767026353 |
525 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA352167530 rs1468541965 |
526 | F>L | No |
ClinGen gnomAD |
|
|
CA352167496 rs1559443951 |
529 | D>H | No |
ClinGen Ensembl |
|
|
CA352167476 rs1400484773 |
530 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774048085 CA2320806 |
530 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866716316 CA72986456 |
531 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2320804 rs762783481 |
531 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2320803 rs553274082 |
532 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2320800 rs147246725 |
534 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 535 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422171625 CA352167422 |
535 | G>R | No |
ClinGen gnomAD |
|
|
CA352167409 rs1263946534 |
536 | S>F | No |
ClinGen gnomAD |
|
|
CA352167405 rs1275526557 |
537 | L>V | No |
ClinGen gnomAD |
|
|
rs1205372971 CA352167375 |
540 | G>D | No |
ClinGen gnomAD |
|
|
rs779182285 CA352167381 |
540 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352167373 rs1315864029 |
541 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352167371 rs1315864029 |
541 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2320795 rs754171794 |
542 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA352167350 rs1310034820 |
543 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs905291594 CA72986403 |
544 | G>D | No |
ClinGen gnomAD |
|
|
rs778131383 CA2320794 |
547 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1398594024 CA352167305 |
548 | P>L | No |
ClinGen gnomAD |
|
|
rs1466610597 CA352167293 |
550 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1375274039 CA352167279 |
552 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 555 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352167255 rs1423285355 |
556 | Q>L | No |
ClinGen gnomAD |
|
|
CA2320790 rs751076013 |
559 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352167229 rs1490993092 |
560 | P>R | No |
ClinGen TOPMed |
|
|
rs1553620443 CA2320788 |
560 | P>T | No |
ClinGen Ensembl |
|
|
rs762541504 CA2320785 |
561 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 567 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769728383 CA2320783 |
568 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169933908 CA352167161 |
570 | Q>E | No |
ClinGen TOPMed |
|
|
CA352167159 rs1576001748 |
570 | Q>P | No |
ClinGen Ensembl |
|
|
CA2320782 rs148046286 |
571 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352167154 rs1243498426 |
571 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 573 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380478295 CA352167134 |
574 | T>S | No |
ClinGen TOPMed |
|
|
CA352167132 rs1356542268 |
575 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352167131 rs1356542268 |
575 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774336593 CA2320778 |
577 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535115766 CA2320775 |
578 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749524029 CA2320776 |
578 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1438129268 CA352167107 |
579 | P>S | No |
ClinGen gnomAD |
|
|
CA2320774 rs756466412 |
580 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1422869 CA72986326 rs910976049 |
583 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2320753 rs781437757 |
586 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352166841 rs1465457623 |
587 | F>C | No |
ClinGen TOPMed |
|
|
rs757978975 CA2320749 |
589 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352166818 rs1339984747 |
589 | A>S | No |
ClinGen gnomAD |
|
|
rs757978975 CA72984247 |
589 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352166805 rs1400313911 |
591 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352166792 rs1559442319 |
592 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs971295700 CA72984216 |
597 | S>P | No |
ClinGen Ensembl |
|
|
CA2320745 rs757014692 |
598 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455432389 CA352166719 |
599 | E>V | No |
ClinGen TOPMed |
|
|
rs1023212727 CA72984156 |
603 | E>D | No |
ClinGen Ensembl |
|
|
CA72984150 rs753631651 |
604 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320744 rs753631651 |
604 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320743 rs763821142 |
606 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2320739 rs762994113 |
607 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72984115 rs139355449 |
607 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324748514 CA352166630 |
608 | Q>R | No |
ClinGen gnomAD |
|
|
rs1317781407 CA352166615 |
609 | R>S | No |
ClinGen gnomAD |
|
|
CA2320737 rs769962695 |
609 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352166614 rs1337516400 |
610 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 611 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320735 rs776994087 |
615 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1011098004 CA72984086 |
616 | I>F | No |
ClinGen TOPMed |
|
|
CA352166546 rs1559442182 |
616 | I>T | No |
ClinGen Ensembl |
|
|
CA352166535 rs1333728789 |
617 | I>T | No |
ClinGen gnomAD |
|
|
rs768908878 CA2320734 |
618 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2320729 rs778601005 |
622 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352166488 rs756924729 |
623 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320728 rs756924729 |
623 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 624 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320701 rs761787151 |
627 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352165978 rs1246599567 |
631 | C>* | No |
ClinGen TOPMed |
|
|
CA2320698 rs760993327 COSM1692572 |
633 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1303298626 CA352165949 |
634 | C>S | No |
ClinGen gnomAD |
|
|
rs768010524 CA2320696 |
635 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA352165914 rs1157697851 |
637 | S>T | No |
ClinGen gnomAD |
|
|
rs1409177961 CA352165886 |
639 | S>F | No |
ClinGen gnomAD |
|
|
rs1477366021 CA352165874 |
640 | Q>H | No |
ClinGen gnomAD |
|
|
CA352165885 rs1179259947 |
640 | Q>K | No |
ClinGen gnomAD |
|
|
CA2320693 rs771515339 |
641 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352165833 rs1200291359 |
644 | I>V | No |
ClinGen gnomAD |
|
|
CA72977424 rs930076962 |
648 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769280972 CA2320690 |
648 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1317685569 CA352165764 |
649 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201698323 CA72977387 |
650 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868734370 CA72977382 |
651 | W>* | No |
ClinGen Ensembl |
|
|
CA72977373 rs904281640 |
652 | V>L | No |
ClinGen Ensembl |
|
|
rs145340027 CA2320687 |
657 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779945160 CA2320685 |
658 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352165635 rs1346592471 |
659 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753826066 CA2320683 |
659 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320684 rs758401577 |
659 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868367483 CA72977341 |
661 | L>F | No |
ClinGen TOPMed |
|
|
rs1559437304 CA352165596 |
662 | V>A | No |
ClinGen Ensembl |
|
|
rs1161786818 CA352165584 |
663 | T>M | No |
ClinGen gnomAD |
|
|
rs752975240 CA2320680 |
664 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA352165577 rs1177831483 |
664 | D>G | No |
ClinGen gnomAD |
|
|
CA352165581 rs756235256 COSM1044335 |
664 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756235256 CA2320681 |
664 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1559437259 CA352165569 |
665 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1208028440 CA352165185 |
669 | L>F | No |
ClinGen gnomAD |
|
|
CA352165182 rs1559437246 |
669 | L>P | No |
ClinGen Ensembl |
|
|
CA352165164 rs1185993927 |
671 | I>V | No |
ClinGen gnomAD |
|
|
rs1181438824 CA352165139 |
674 | C>* | No |
ClinGen TOPMed |
|
|
CA2320675 rs774892364 |
674 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352165143 rs774892364 |
674 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268947413 CA352165135 |
675 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2320674 rs766751199 |
675 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352165122 rs1225273841 |
677 | V>A | No |
ClinGen gnomAD |
|
|
CA352165102 rs1315925457 |
680 | I>T | No |
ClinGen gnomAD |
|
|
rs1382268173 CA352165082 |
683 | A>T | No |
ClinGen gnomAD |
|
|
rs934256008 CA72977224 |
684 | M>L | No |
ClinGen Ensembl |
|
|
rs747722134 CA2320670 |
686 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2320668 rs768347496 |
687 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1457623408 CA352165052 |
687 | H>Y | No |
ClinGen TOPMed |
|
|
CA2320667 rs779931477 |
688 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303027495 CA352165009 |
693 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 693 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320662 rs756216388 |
694 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352165002 rs1169871700 |
694 | E>V | No |
ClinGen gnomAD |
|
|
rs539654093 CA2320661 |
695 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352164999 rs1429171505 |
695 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1180365336 CA352164986 |
696 | M>I | No |
ClinGen gnomAD |
|
|
rs767813915 CA2320660 |
697 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205315141 CA352164974 COSM2987013 |
698 | Q>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2320658 rs777774052 |
699 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352164963 rs1250669621 |
700 | G>D | No |
ClinGen TOPMed gnomAD |
|
| rs1308782974 | 702 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753297701 CA2320629 |
703 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs762338672 CA2320630 |
703 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 704 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559435378 CA352164675 |
705 | T>S | No |
ClinGen Ensembl |
|
|
CA352164663 rs1418024595 |
706 | I>M | No |
ClinGen gnomAD |
|
|
rs763611276 CA2320628 |
706 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 708 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72974634 rs267599805 |
708 | F>V | No |
ClinGen gnomAD |
|
|
rs1182244019 CA352164633 |
709 | T>I | No |
ClinGen gnomAD |
|
|
CA2320624 rs759342224 |
712 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs377708955 CA2320625 |
712 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490375691 CA352164597 |
713 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352164599 rs1490375691 |
713 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774042540 CA2320623 |
717 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA72974578 rs934933414 |
718 | A>V | No |
ClinGen gnomAD |
|
|
rs1011837516 CA72974560 |
719 | F>L | No |
ClinGen TOPMed |
|
|
rs1281955309 CA352164516 |
721 | P>Q | No |
ClinGen gnomAD |
|
|
rs1281955309 CA352164517 |
721 | P>R | No |
ClinGen gnomAD |
|
|
CA2320619 rs747114420 |
721 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320617 rs780302599 |
722 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1245180167 CA352164495 |
723 | Y>C | No |
ClinGen gnomAD |
|
|
rs758590686 CA2320616 |
723 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1398451055 CA352164481 |
724 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 724 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320916260 CA352164461 |
726 | Q>R | No |
ClinGen gnomAD |
|
|
CA2320614 rs779272569 |
727 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352164441 rs1320413493 |
728 | K>R | No |
ClinGen TOPMed |
|
|
rs1212109538 CA352164420 |
730 | N>D | No |
ClinGen TOPMed |
|
|
rs1175649386 CA352164391 |
732 | F>L | No |
ClinGen gnomAD |
|
|
CA352164386 rs373216811 |
732 | F>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1190860628 CA352164352 |
735 | I>N | No |
ClinGen gnomAD |
|
|
rs201342036 CA352164278 |
741 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201342036 CA2320608 |
741 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352164260 rs1575982996 |
743 | E>K | No |
ClinGen Ensembl |
|
|
rs907199641 CA352164232 |
744 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA72974437 rs907199641 |
744 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774134060 CA2320605 |
746 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352164179 rs1474093404 |
748 | K>R | No |
ClinGen TOPMed |
|
|
CA352164136 rs1384093469 |
750 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2320602 CA72974420 rs773267272 |
750 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352164113 rs1335768886 |
751 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369656358 CA2320600 |
752 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 755 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352164053 rs1167967511 |
755 | L>V | No |
ClinGen gnomAD |
|
|
CA2320597 rs746092299 |
756 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1194887673 CA352164040 |
757 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2320595 rs745659019 |
759 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048676042 CA72974333 |
759 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1048676042 CA352163987 |
759 | R>L | No |
ClinGen TOPMed |
|
|
CA2320577 rs139988577 |
761 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2320576 rs577819850 COSM1670070 |
762 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA72962199 rs577819850 |
762 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 763 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569904203 CA2320573 |
763 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2320571 rs754432361 |
765 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352161435 rs1210697220 |
766 | L>V | No |
ClinGen gnomAD |
|
|
rs751162345 CA2320570 |
767 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352161390 rs1339640029 |
768 | K>I | No |
ClinGen Ensembl |
|
|
CA352161359 rs1422194927 |
769 | S>F | No |
ClinGen gnomAD |
|
|
rs1364356306 CA352161335 |
770 | W>* | No |
ClinGen gnomAD |
|
|
rs758157003 CA2320568 |
771 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72962147 rs200304117 |
774 | N>S | No |
ClinGen 1000Genomes |
|
|
CA352161233 rs1416423873 |
775 | T>A | No |
ClinGen gnomAD |
|
|
rs150501065 CA2320566 |
775 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2320565 rs761743865 |
776 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320563 rs764154554 |
779 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1361846482 CA352161069 |
782 | N>I | No |
ClinGen gnomAD |
|
|
rs1281973322 CA352161064 |
782 | N>K | No |
ClinGen gnomAD |
|
|
CA72962120 rs918711529 |
783 | S>A | No |
ClinGen TOPMed |
|
|
CA2320559 rs763172665 |
784 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA352161033 rs1222966349 |
784 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 785 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111788645 CA72962115 |
789 | N>S | No |
ClinGen Ensembl |
|
|
rs1303166399 CA352160899 |
791 | T>S | No |
ClinGen gnomAD |
|
|
COSM730954 CA2320556 rs563110484 |
792 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA352160867 rs1343065591 |
793 | I>T | No |
ClinGen gnomAD |
|
|
CA352160839 rs1157423409 |
795 | A>T | No |
ClinGen gnomAD |
|
|
rs781527310 CA2320555 |
795 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1327785311 CA352160805 |
796 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1400466899 CA352160793 |
797 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352160782 rs1575966340 |
798 | V>F | No |
ClinGen Ensembl |
|
|
CA352160751 rs1409110506 |
800 | V>L | No |
ClinGen gnomAD |
|
|
CA2320551 rs758068950 |
806 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA72962064 rs867469849 |
810 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2320550 rs145712124 |
810 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000478652 RCV002446948 rs751810656 |
811 | E>missing | No |
ClinVar dbSNP |
|
|
CA72962060 rs77049337 |
811 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756992674 CA2320546 |
812 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs753720414 CA2320545 |
813 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA352160544 rs1385845692 |
813 | Y>H | No |
ClinGen gnomAD |
|
|
CA2320544 rs763911156 |
814 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139861061 CA352160526 |
814 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148748248 CA2320542 |
815 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766449347 CA2320541 |
815 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2320539 rs201068959 |
817 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 823 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352160412 rs779646839 |
824 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72961984 rs561655654 |
824 | H>Q | No |
ClinGen gnomAD |
|
|
rs779646839 CA2320533 |
824 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559427905 CA352160415 |
824 | H>Y | No |
ClinGen Ensembl |
|
|
CA352160392 rs1199729142 |
826 | D>E | No |
ClinGen gnomAD |
|
|
rs1326369873 CA352160395 |
826 | D>G | No |
ClinGen TOPMed |
|
|
rs1273210195 CA352160387 |
827 | W>* | No |
ClinGen Ensembl |
|
|
rs756977771 CA2320529 |
827 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755974168 CA2320526 |
829 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352160364 rs1470008399 |
831 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA72961962 rs137858823 |
833 | H>L | No |
ClinGen ESP TOPMed |
|
|
rs767498321 COSM187330 CA2320523 |
834 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA352160341 COSM1741402 rs767498321 |
834 | D>Y | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1294155266 CA352160323 |
836 | F>C | No |
ClinGen gnomAD |
|
|
rs750554318 CA2320521 |
836 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1184583877 CA352160303 |
839 | F>S | No |
ClinGen TOPMed |
|
|
rs765336626 CA2320520 |
840 | L>F | No |
ClinGen ExAC |
|
|
CA2320519 rs762119038 |
841 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776804111 CA2320518 |
842 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320516 rs562091549 COSM187329 |
844 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462695708 CA352160268 |
845 | I>N | No |
ClinGen TOPMed |
|
|
CA352160259 rs1467966822 |
846 | L>R | No |
ClinGen gnomAD |
|
|
rs772757323 CA2320515 |
847 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352160243 rs1326134595 |
849 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 849 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745343181 CA2320514 |
850 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs938846460 CA72961929 |
850 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352160229 rs1483267310 |
851 | I>V | No |
ClinGen gnomAD |
|
|
rs770429498 CA2320512 |
852 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1183530821 CA352160205 |
854 | M>K | No |
ClinGen gnomAD |
|
|
rs1441503452 CA352160195 |
855 | W>L | No |
ClinGen TOPMed |
|
|
rs777353402 CA2320510 |
856 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044499700 CA72961914 |
856 | A>V | No |
ClinGen Ensembl |
|
|
CA352160182 rs1250337216 |
857 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352160180 rs1347088302 |
857 | C>W | No |
ClinGen gnomAD |
|
|
rs1250337216 CA352160184 |
857 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs755887904 CA352160179 |
858 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs755887904 CA2320509 |
858 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382498264 CA352160156 |
861 | G>A | No |
ClinGen gnomAD |
|
|
rs779519063 CA72961890 |
861 | G>S | No |
ClinGen Ensembl |
|
|
CA72961886 rs948794452 |
866 | C>R | No |
ClinGen Ensembl |
|
|
rs1398369804 CA352160116 |
867 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA352160103 rs1297726448 |
869 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2320503 rs757355631 |
872 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761102708 CA2320500 |
874 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA352160072 rs1385649443 |
874 | M>V | No |
ClinGen gnomAD |
|
|
rs776039606 CA2320499 |
875 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs965694242 CA72961798 |
875 | V>L | No |
ClinGen TOPMed |
|
|
rs201330370 CA2320496 |
879 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2320494 rs748804697 |
879 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA352160042 rs748804697 |
879 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2320465 rs191056911 |
884 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA72960929 rs967347660 |
887 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352159391 rs967347660 |
887 | A>T | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2320460 rs763390654 |
890 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA352159217 rs1575963206 |
895 | A>G | No |
ClinGen Ensembl |
|
|
rs375765886 CA2320456 |
896 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320455 rs566823128 |
899 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566823128 CA352159107 |
899 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 900 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774493534 CA2320449 |
904 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA72960854 rs375924387 |
905 | G>R | No |
ClinGen ESP |
|
|
rs769977897 CA72960850 |
906 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 906 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320446 COSM3780896 rs567269429 |
909 | N>K | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs755185309 CA2320445 |
911 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2320444 rs747348729 |
912 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2320442 rs758836437 COSM583645 |
913 | A>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2320441 rs750925394 |
914 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 915 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320439 rs267599804 |
916 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA352158722 rs1483116302 |
917 | I>N | No |
ClinGen TOPMed |
|
|
CA72960803 rs995638455 |
917 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1194116173 CA352158698 |
918 | Q>R | No |
ClinGen gnomAD |
|
|
CA2320436 rs760270839 |
922 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352158628 rs1275656060 |
922 | H>R | No |
ClinGen gnomAD |
|
|
rs763764330 CA2320437 |
922 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320434 rs759458296 |
923 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352158605 rs759458296 |
923 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342190715 CA352158577 |
925 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 928 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953629185 CA72960767 |
930 | S>N | No |
ClinGen gnomAD |
|
|
rs912854357 CA72960753 |
933 | S>N | No |
ClinGen TOPMed |
|
|
CA352158401 rs1422299614 |
934 | R>S | No |
ClinGen gnomAD |
|
|
rs748196037 CA2320430 |
935 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA352158380 rs1473433134 |
936 | C>F | No |
ClinGen gnomAD |
|
|
rs1029017064 RCV000431169 CA16604581 |
937 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs776593982 CA2320429 |
938 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352158326 rs1300873650 |
939 | P>S | No |
ClinGen TOPMed |
|
|
rs780390487 CA72960714 |
940 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320426 rs780390487 |
940 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_070880 | 940 | Q>L | No | UniProt | |
| TCGA novel | 942 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575962741 CA352158262 |
942 | K>R | No |
ClinGen Ensembl |
|
|
rs141861200 CA2320422 |
944 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320423 rs746281706 |
944 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72960687 rs11707331 |
945 | P>L | No |
ClinGen Ensembl |
|
|
rs1350583818 CA352158192 |
947 | L>Q | No |
ClinGen gnomAD |
|
|
rs1402786888 CA352158172 |
948 | V>E | No |
ClinGen gnomAD |
|
|
CA72960665 rs970660714 |
950 | K>E | No |
ClinGen Ensembl |
|
|
CA352158141 rs7374804 |
950 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352158149 rs1323365889 |
950 | K>T | No |
ClinGen gnomAD |
|
|
rs774315933 CA352158105 |
952 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320414 rs774315933 |
952 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370880796 CA2320415 |
952 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320413 rs766368581 |
955 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA352158031 rs1413571889 |
957 | K>* | No |
ClinGen TOPMed |
|
|
CA2320412 rs762995346 |
958 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA352158004 rs1222532333 |
959 | E>K | No |
ClinGen gnomAD |
|
|
rs57326399 CA352157951 |
962 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352157935 rs1329768354 |
963 | A>T | No |
ClinGen gnomAD |
|
|
rs367725043 CA72960558 |
965 | N>S | No |
ClinGen gnomAD |
|
|
CA2320406 rs746193804 |
968 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352157851 rs1362972831 |
969 | G>R | No |
ClinGen TOPMed |
|
|
CA352157833 rs1344267354 |
970 | S>N | No |
ClinGen gnomAD |
|
|
rs779274547 CA2320405 |
973 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 974 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755553717 CA2320401 |
975 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200163378 CA72960505 |
977 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 977 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352157720 rs1367067246 |
978 | R>T | No |
ClinGen TOPMed |
|
|
CA2320400 rs752287839 |
979 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA72960499 rs970548051 |
982 | D>G | No |
ClinGen TOPMed |
|
|
CA352157658 rs1266734033 |
983 | E>K | No |
ClinGen TOPMed |
|
|
rs1559426077 CA352157587 |
988 | I>L | No |
ClinGen Ensembl |
|
|
rs1357634459 CA352157556 |
991 | P>S | No |
ClinGen Ensembl |
|
|
CA72960478 rs765269419 |
992 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352157541 rs1278645956 |
993 | V>M | No |
ClinGen gnomAD |
|
|
CA72960473 rs770653074 |
994 | W>C | No |
ClinGen Ensembl |
|
|
CA72960469 rs533149362 |
995 | V>L | No |
ClinGen Ensembl |
|
|
CA352157497 rs1268831131 |
997 | V>M | No |
ClinGen gnomAD |
|
|
rs150111722 CA2320389 |
1003 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320388 rs186031413 |
1004 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs963394464 CA352157400 |
1006 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1006 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199641736 CA2320386 |
1007 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM365797 CA352157394 rs1434459687 |
1007 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2320385 rs749707385 |
1009 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2320384 rs558930737 |
1010 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181696390 CA352157324 |
1012 | D>V | No |
ClinGen gnomAD |
|
|
CA352157311 rs1228092020 |
1013 | G>V | No |
ClinGen TOPMed |
|
|
CA352157306 rs1237617535 |
1014 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1014 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211578836 CA352157288 |
1016 | D>N | No |
ClinGen gnomAD |
|
|
CA2320382 rs200601591 |
1016 | D>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA2320381 rs780861535 |
1017 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2320380 rs754610376 |
1018 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1300252512 CA352157221 |
1022 | Q>R | No |
ClinGen gnomAD |
|
|
CA2320378 rs772571344 |
1023 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352157190 rs1219647829 |
1025 | I>V | No |
ClinGen TOPMed |
|
|
CA352157177 rs1450322307 |
1026 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1029 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778772059 CA2320357 |
1030 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2320356 rs757082613 |
1030 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1368790006 CA352156852 |
1031 | E>G | No |
ClinGen gnomAD |
|
|
rs753759590 CA2320355 |
1031 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2320353 rs371331011 |
1032 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371331011 CA352156848 |
1032 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320349 rs376815753 |
1037 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352156807 rs1488359815 |
1038 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA352156799 rs765623505 |
1039 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs762335489 COSM1537906 CA352156783 |
1041 | D>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1042 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769336373 CA2320344 |
1044 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352156759 rs1299508220 |
1046 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1046 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352156751 rs1262515384 |
1047 | S>G | No |
ClinGen TOPMed |
|
|
CA2320341 rs771555935 |
1047 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs745545483 CA2320340 |
1048 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451593343 CA352156737 |
1049 | G>D | No |
ClinGen gnomAD |
|
|
CA2320338 rs528738403 |
1051 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749117765 CA2320337 |
1052 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA72959587 rs962402134 |
1053 | S>T | No |
ClinGen Ensembl |
|
|
CA2320335 rs777190579 |
1053 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_070881 rs751574392 CA2320334 |
1056 | D>N | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs370202955 CA2320333 |
1058 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463974488 CA352156682 |
1059 | P>A | No |
ClinGen gnomAD |
|
|
CA2320330 rs765419083 |
1061 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320328 rs754277291 |
1062 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320329 rs754277291 |
1062 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764654987 CA2320327 |
1063 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2320326 rs761268185 |
1063 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA352156648 rs1347009711 |
1065 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352156632 rs1559424903 |
1067 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1069 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352156612 rs1321143633 |
1070 | V>D | No |
ClinGen gnomAD |
|
|
CA352156613 rs759031742 |
1070 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2320323 rs759031742 |
1070 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA352156603 rs1458693100 |
1072 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs6795970 CA352156592 |
1073 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352156595 rs1171483410 |
1073 | V>I | No |
ClinGen gnomAD |
|
|
CA2320320 rs749045543 |
1074 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777551972 CA2320319 |
1075 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs769663323 CA2320318 |
1076 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370762311 CA352156529 |
1077 | G>R | No |
ClinGen gnomAD |
|
|
rs1309415508 CA352156523 |
1077 | G>V | No |
ClinGen gnomAD |
|
|
rs1163198911 CA352156512 |
1078 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768500142 CA2320296 |
1078 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352156508 rs1224342410 |
1079 | D>N | No |
ClinGen TOPMed |
|
|
rs757496015 CA2320293 |
1081 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs778204738 CA2320291 |
1082 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs143610297 CA2320289 |
1085 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1288811554 CA352156423 |
1085 | E>G | No |
ClinGen gnomAD |
|
|
CA2320290 rs756513893 |
1085 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352156410 rs1234564695 |
1086 | G>D | No |
ClinGen TOPMed |
|
|
rs755448967 CA2320287 |
1086 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA72958561 rs1048494396 |
1088 | T>M | No |
ClinGen gnomAD |
|
|
CA2320284 rs539704919 |
1089 | V>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA352156345 rs1433777718 |
1091 | C>R | No |
ClinGen gnomAD |
|
|
rs1164096524 CA352156303 |
1094 | P>L | No |
ClinGen TOPMed |
|
|
CA72958557 rs973127854 |
1094 | P>T | No |
ClinGen TOPMed |
|
|
CA352156297 rs1413461284 |
1095 | E>K | No |
ClinGen TOPMed |
|
|
CA352156289 rs1406503890 |
1095 | E>V | No |
ClinGen gnomAD |
|
|
CA2320279 rs776321471 |
1099 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA72958534 rs775788526 |
1101 | I>N | No |
ClinGen Ensembl |
|
|
RCV000413612 rs1057518542 CA16042470 |
1102 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs768571080 CA2320278 |
1103 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1331382578 CA352156203 |
1103 | E>K | No |
ClinGen TOPMed |
|
|
rs376090722 CA72958515 |
1104 | L>P | No |
ClinGen ESP |
|
|
rs867277316 CA72958513 |
1105 | A>V | No |
ClinGen Ensembl |
|
|
CA352156131 rs1169163299 |
1109 | E>K | No |
ClinGen gnomAD |
|
|
CA72958501 rs201871493 |
1110 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs201871493 CA72958487 |
1110 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs746932296 CA2320277 |
1111 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199275410 CA352156104 |
1111 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2320276 rs775624502 |
1112 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775624502 CA72958475 |
1112 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA352156068 rs969881678 CA352156065 |
1113 | D>E | No |
ClinGen gnomAD |
|
|
CA2320274 rs749417123 |
1114 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1478144117 CA352156010 |
1115 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2320273 rs778116360 |
1116 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352155830 rs868030985 |
1118 | G>A | No |
ClinGen gnomAD |
|
|
rs868030985 CA72957827 |
1118 | G>E | No |
ClinGen gnomAD |
|
|
rs990959866 CA72957821 |
1119 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1166775380 CA352155805 |
1120 | I>V | No |
ClinGen TOPMed |
|
|
CA2320251 rs201588811 |
1121 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143208505 CA2320250 |
1124 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150260693 CA2320249 |
1127 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352155708 rs1279958261 |
1127 | K>R | No |
ClinGen TOPMed |
|
|
CA352155686 rs1274496159 |
1129 | D>G | No |
ClinGen gnomAD |
|
|
CA2320248 rs758936629 |
1130 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2320247 rs749868817 |
1131 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352155664 rs749868817 |
1131 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA352155667 rs1341023150 |
1131 | T>S | No |
ClinGen TOPMed |
|
|
rs1347238671 CA352155637 |
1133 | S>T | No |
ClinGen TOPMed |
|
|
CA2320244 COSM1692567 rs753427557 |
1135 | W>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1692567 CA352155610 rs1409110733 |
1135 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769714725 CA72957789 |
1135 | W>R | No |
ClinGen gnomAD |
|
|
rs745599005 CA2320243 |
1137 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352155563 rs1430203617 |
1138 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2320242 rs143744796 |
1139 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320240 rs767519344 |
1140 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2320239 rs759562845 |
1141 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774491733 CA2320238 |
1142 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200584416 CA2320237 COSM292451 |
1142 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA352155496 rs1478725654 |
1143 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1145 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1422863 rs373470651 CA2320235 |
1147 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2320232 rs201827217 |
1148 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2320233 rs201827217 |
1148 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2320230 rs746361329 |
1150 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352155342 rs1360998753 |
1153 | W>* | No |
ClinGen TOPMed |
|
|
CA72957753 rs199542685 |
1156 | S>G | No |
ClinGen 1000Genomes |
|
|
CA2320229 rs779538718 |
1156 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1159 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352155250 rs1234083892 |
1159 | I>M | No |
ClinGen TOPMed |
|
|
rs777240104 CA2320225 |
1159 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753434251 CA2320226 |
1159 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352155237 rs865977732 |
1160 | F>L | No |
ClinGen TOPMed |
|
|
rs1033468196 CA72957721 |
1161 | M>L | No |
ClinGen gnomAD |
|
|
CA352155232 rs1033468196 |
1161 | M>V | No |
ClinGen gnomAD |
|
|
rs757176136 CA72957713 |
1166 | S>N | No |
ClinGen Ensembl |
|
|
CA352155143 rs1483015148 |
1167 | G>* | No |
ClinGen gnomAD |
|
|
rs1182519862 CA352155136 |
1167 | G>V | No |
ClinGen gnomAD |
|
|
CA2320222 rs540928678 |
1168 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2320197 rs267599801 |
1170 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267599801 CA72956187 |
1170 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72956185 rs267599801 |
1170 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760811102 CA2320196 |
1173 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1301912357 CA352153402 |
1181 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs150773437 CA352153396 |
1181 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396134485 CA352153389 |
1182 | V>L | No |
ClinGen gnomAD |
|
|
CA72956160 rs549879065 |
1188 | Y>C | No |
ClinGen 1000Genomes |
|
|
CA2320190 rs773662455 |
1191 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72956156 rs896091573 |
1191 | R>K | No |
ClinGen TOPMed |
|
|
CA352153224 rs773662455 |
1191 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747712985 CA2320188 |
1193 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2320187 rs780945258 |
1194 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2320184 rs779913231 |
1198 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs202199966 CA72956117 |
1200 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2320182 rs202199966 |
1200 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415061824 CA352153040 |
1203 | L>F | No |
ClinGen gnomAD |
|
|
CA352153016 rs1322310217 |
1205 | W>R | No |
ClinGen TOPMed |
|
|
CA2320179 rs752793109 |
1211 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352152885 rs1169053727 |
1214 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1215 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476670496 CA352152861 |
1215 | T>I | No |
ClinGen gnomAD |
|
|
CA352152855 rs1366834332 |
1216 | N>I | No |
ClinGen gnomAD |
|
|
CA352152852 rs1366834332 |
1216 | N>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs757805145 CA72956104 |
1220 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1575948366 CA352152767 |
1222 | D>G | No |
ClinGen Ensembl |
|
|
rs759804091 CA2320177 |
1222 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759804091 CA2320178 |
1222 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200597401 CA2320175 |
1224 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA72956088 rs952541400 |
1224 | L>P | No |
ClinGen TOPMed |
|
|
rs200597401 CA72956100 |
1224 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482614372 CA352152732 |
1225 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1482614372 CA352152735 |
1225 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA72951174 rs943479967 |
1228 | I>L | No |
ClinGen gnomAD |
|
|
rs563514624 CA72951171 |
1228 | I>T | No |
ClinGen 1000Genomes |
|
|
rs775185585 CA352151869 |
1231 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352151853 rs745633219 |
1232 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2320148 rs745633219 |
1232 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2320147 rs373750985 |
1232 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770795008 CA2320146 |
1232 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs749207703 CA2320145 |
1233 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777731699 CA2320144 |
1233 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777731699 CA352151831 |
1233 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA72951155 rs950779366 |
1235 | A>T | No |
ClinGen gnomAD |
|
|
rs750759174 CA2320139 COSM446452 |
1242 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765684724 CA2320138 |
1243 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352151714 rs1279091659 |
1244 | A>T | No |
ClinGen TOPMed |
|
|
rs1484498541 CA352151702 |
1244 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA72951139 rs964686767 |
1246 | I>M | No |
ClinGen TOPMed |
|
|
CA352151679 rs1319074185 |
1246 | I>N | No |
ClinGen gnomAD |
|
|
CA352151684 rs1218467833 |
1246 | I>V | No |
ClinGen TOPMed |
|
|
CA2320136 rs754365087 |
1247 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352151649 rs1320552059 |
1248 | A>V | No |
ClinGen gnomAD |
|
|
CA352151603 rs1455379558 |
1252 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1252 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1253 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770705124 CA2320130 |
1253 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs145909172 CA2320132 |
1253 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769655303 CA2320127 |
1254 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA352151582 rs773155259 |
1254 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320128 rs773155259 |
1254 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352151539 rs1559417146 |
1258 | L>P | No |
ClinGen Ensembl |
|
|
CA352151533 rs765230695 |
1259 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72951119 rs957441210 |
1259 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352151521 rs779316495 |
1260 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181759782 CA352151489 |
1262 | S>F | No |
ClinGen gnomAD |
|
|
CA72951113 rs868612986 |
1263 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2320120 rs754277304 |
1263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754277304 COSM1044329 CA72951109 |
1263 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1264 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320118 rs752189483 |
1266 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752189483 CA2320117 |
1266 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2320114 rs773973849 |
1267 | M>I | No |
ClinGen ExAC |
|
|
rs774337248 CA2320116 |
1267 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774337248 CA352151438 |
1267 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1044328 CA2320113 rs766044301 |
1268 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA352151401 rs1463045047 |
1271 | V>A | No |
ClinGen TOPMed |
|
|
CA2320089 rs371258438 |
1271 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1273 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1692563 CA2320088 rs776408436 |
1273 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1420061502 COSM263524 CA352151376 |
1275 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA352151368 rs1296278088 |
1277 | A>T | No |
ClinGen gnomAD |
|
|
CA2320084 rs771215781 |
1279 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA72950553 rs371378512 |
1282 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA72950560 rs1006794198 |
1282 | M>V | No |
ClinGen Ensembl |
|
|
CA72950548 rs889663475 |
1283 | N>K | No |
ClinGen Ensembl |
|
|
rs770020418 CA2320081 |
1286 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2320076 rs749044361 |
1288 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA352151276 rs527401897 |
1291 | F>L | No |
ClinGen TOPMed |
|
|
rs1305478773 CA352151264 |
1293 | L>F | No |
ClinGen gnomAD |
|
|
CA352151261 rs1234260311 |
1293 | L>R | No |
ClinGen TOPMed |
|
|
CA352151249 rs1380029472 |
1295 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA72950521 rs978977328 |
1297 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750014529 CA2320073 |
1298 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377708853 CA2320074 |
1298 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs938377844 CA72950512 |
1299 | G>S | No |
ClinGen gnomAD |
|
|
CA72950509 rs1023062862 |
1301 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
RCV000482487 rs1064796846 CA16617956 |
1303 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2320072 rs142173735 |
1304 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352151182 rs1162257637 |
1306 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA352151150 rs1371430082 |
1310 | C>R | No |
ClinGen TOPMed |
|
|
rs764055874 CA2320070 |
1310 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1559415991 CA352151117 |
1314 | T>I | No |
ClinGen Ensembl |
|
|
rs866794466 CA352151108 |
1316 | G>* | No |
ClinGen TOPMed |
|
|
rs866794466 CA72950495 |
1316 | G>R | No |
ClinGen TOPMed |
|
|
CA2320065 rs773281939 |
1319 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763130803 CA2320066 |
1319 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs373466551 CA2320063 |
1320 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1295637022 CA352151042 |
1322 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1295637022 CA352151044 |
1322 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA72950474 rs780172964 |
1322 | P>S | No |
ClinGen Ensembl |
|
|
rs1353202737 CA352151036 |
1323 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769071290 CA2320061 |
1323 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1353202737 CA352151034 |
1323 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA72950463 rs897937757 |
1326 | V>M | No |
ClinGen TOPMed |
|
|
rs757826438 CA2320058 |
1328 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1204063286 CA352150965 |
1328 | N>K | No |
ClinGen TOPMed |
|
|
rs958426415 CA72950457 |
1328 | N>S | No |
ClinGen gnomAD |
|
|
CA72950455 rs867698159 |
1330 | S>F | No |
ClinGen Ensembl |
|
|
rs778389269 CA2320056 |
1333 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1188093260 CA352150854 |
1335 | Q>R | No |
ClinGen TOPMed |
|
|
rs1269747297 CA352150811 |
1338 | T>A | No |
ClinGen gnomAD |
|
|
CA72950441 rs942103215 |
1339 | G>S | No |
ClinGen TOPMed |
|
|
rs1191498319 CA352150789 |
1339 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1340 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753519453 CA2320054 |
1342 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs763963972 CA2320053 |
1342 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1000006330 CA72950429 |
1343 | W>* | No |
ClinGen Ensembl |
|
|
CA2320052 rs756036768 RCV000599467 |
1343 | W>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA352150712 rs1575938244 |
1344 | V>G | No |
ClinGen Ensembl |
|
|
rs752648254 CA2320051 |
1344 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2320050 rs767609550 |
1345 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2320049 rs762905000 |
1350 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000998035 rs1575938186 |
1352 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1353 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2320046 rs765322398 |
1353 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA352150556 rs1377647555 |
1354 | A>V | No |
ClinGen TOPMed |
|
|
CA2320043 rs768979263 |
1356 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs199703203 CA2320042 |
1357 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775929381 CA2320041 |
1358 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1415748876 CA352150498 |
1359 | A>T | No |
ClinGen gnomAD |
|
|
rs745307800 CA352150449 CA2320039 |
1362 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1281711254 CA352150297 |
1364 | A>T | No |
ClinGen gnomAD |
|
|
rs1350489552 CA352150290 |
1365 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1368 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352150249 rs1441740263 |
1370 | M>I | No |
ClinGen gnomAD |
|
|
CA72949945 rs138786127 |
1371 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2320013 rs781030516 |
1372 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352150209 rs1559414943 |
1373 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1160216765 CA352150196 |
1374 | Y>C | No |
ClinGen gnomAD |
|
|
CA2320011 rs751484106 |
1377 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1379 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352150121 rs149155352 |
1380 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352150117 rs1447191624 |
1381 | E>K | No |
ClinGen gnomAD |
|
|
CA352149996 rs1393117491 |
1384 | M>T | No |
ClinGen TOPMed |
|
|
rs753855829 CA2319991 |
1386 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA352149966 rs1280393125 |
1388 | W>L | No |
ClinGen gnomAD |
|
|
rs777815787 CA2319990 |
1388 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1390 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1390 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374352107 CA2319988 |
1391 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150442007 CA352149914 |
1393 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352149920 rs1317455820 |
1393 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2319982 rs773923447 |
1394 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72949327 rs751843738 |
1394 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763542745 CA2319983 |
1394 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA72949330 rs751843738 |
1394 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201234101 CA72949314 |
1398 | F>L | No |
ClinGen 1000Genomes |
|
|
CA72949311 rs1037828138 |
1399 | V>A | No |
ClinGen Ensembl |
|
|
CA2319981 rs769397943 |
1400 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761462940 CA2319980 |
1402 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs201280426 CA72949285 |
1406 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417665800 CA352149757 |
1406 | G>C | No |
ClinGen gnomAD |
|
|
rs779723844 CA2319976 |
1408 | F>C | No |
ClinGen ExAC |
|
|
rs1444910170 CA352149720 |
1410 | L>P | No |
ClinGen TOPMed |
|
|
CA72949278 rs769359391 |
1411 | N>S | No |
ClinGen Ensembl |
|
|
CA352149676 rs1383213942 |
1414 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1415 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319974 rs745797756 |
1416 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs566913539 CA2319973 |
1418 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA72949268 rs922198973 |
1421 | F>L | No |
ClinGen gnomAD |
|
|
rs1231754635 CA352149575 |
1422 | N>S | No |
ClinGen gnomAD |
|
|
rs1395799630 CA352149564 |
1423 | Q>H | No |
ClinGen TOPMed |
|
|
rs1294063610 CA352149570 |
1423 | Q>K | No |
ClinGen gnomAD |
|
|
CA352149562 rs1027297455 |
1424 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA72949265 rs1027297455 |
1424 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1027297455 CA352149563 |
1424 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA352149529 rs1338826423 |
1426 | K>* | No |
ClinGen TOPMed |
|
|
rs1245589706 CA352149506 |
1427 | K>N | No |
ClinGen TOPMed |
|
|
CA2319972 rs756164092 |
1427 | K>Q | No |
ClinGen ExAC gnomAD |
|
| rs750400627 | 1427 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383770090 CA352149519 |
1427 | K>T | No |
ClinGen TOPMed |
|
| rs750400627 | 1428 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319945 rs750853186 |
1429 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754423728 CA352148784 |
1430 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757721860 CA2319943 |
1430 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754423728 CA2319942 |
1430 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278127829 CA352148758 |
1432 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2319939 rs564222571 |
1433 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767179565 CA2319938 |
1435 | M>V | No |
ClinGen ExAC |
|
|
CA352148697 rs1278000627 |
1436 | T>I | No |
ClinGen TOPMed |
|
|
rs370610736 CA352148670 |
1438 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2319935 rs370610736 |
1438 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268286686 CA352148655 |
1439 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352148622 rs1289047511 |
1441 | K>E | No |
ClinGen gnomAD |
|
|
rs773243150 CA2319932 |
1444 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA352148566 rs1434639234 |
1445 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352148556 rs1378337722 COSM3823809 |
1445 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs867476480 CA72948333 |
1446 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1446 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319931 RCV000998033 rs527290934 |
1446 | M>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1420782164 CA352148517 |
1448 | K>E | No |
ClinGen TOPMed |
|
|
CA72948311 rs202131976 |
1450 | G>S | No |
ClinGen Ensembl |
|
|
rs780387548 CA2319929 |
1452 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1452 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319928 rs772430907 |
1453 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2319927 rs746180135 |
1456 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779410370 CA2319925 |
1458 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM136330 rs757704367 CA2319924 |
1459 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757704367 CA352148375 |
1459 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929977747 CA72945623 |
1463 | N>K | No |
ClinGen TOPMed |
|
|
CA352147350 rs1459648917 |
1464 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762616423 CA352147326 |
1465 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319899 rs766078662 |
1465 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA72945617 rs550011049 |
1466 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA352147300 COSM233307 rs1451721054 |
1467 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs532793715 CA2319895 |
1469 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352147180 rs1286314604 |
1472 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2319893 rs767670989 |
1473 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319891 rs774383876 |
1476 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774383876 CA352147068 |
1476 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1479 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352146975 rs1406169129 |
1480 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1306909087 CA352146946 |
1481 | T>I | No |
ClinGen TOPMed |
|
|
rs749549443 CA2319889 |
1483 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773638118 CA2319888 |
1484 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773638118 CA352146894 |
1484 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1486 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452080016 CA352146794 |
1489 | N>H | No |
ClinGen gnomAD |
|
|
CA352146775 rs1251797044 |
1489 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352146749 rs1359568771 |
1490 | M>K | No |
ClinGen TOPMed |
|
|
rs770200336 CA2319887 |
1493 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353380633 CA352146603 |
1496 | E>A | No |
ClinGen gnomAD |
|
|
CA352146606 rs1203792114 |
1496 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2319885 rs781701921 |
1499 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA352146542 rs1575922756 |
1499 | D>V | No |
ClinGen Ensembl |
|
|
rs868500654 CA72945556 |
1502 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754437136 CA2319884 |
1503 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1333051279 CA352146417 |
1504 | K>R | No |
ClinGen gnomAD |
|
|
CA2319883 rs184521520 |
1505 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs924858573 CA72945544 |
1509 | G>D | No |
ClinGen Ensembl |
|
|
CA2319880 rs187118004 |
1509 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs267599798 CA352146267 |
1511 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA72945519 rs976249845 |
1513 | Q>E | No |
ClinGen Ensembl |
|
|
rs1240027569 CA352146196 |
1514 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2319877 rs776552739 |
1514 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs573852888 CA2319876 |
1515 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1519 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352146048 rs1219508254 |
1521 | G>V | No |
ClinGen gnomAD |
|
|
CA2319873 rs760978530 COSM1044323 |
1522 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA72945487 rs760978530 |
1522 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770122720 CA2319871 |
1524 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352145984 rs1299789777 |
1525 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352145900 rs1415733342 |
1530 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1532 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575922526 CA352145882 |
1532 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 1532 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319864 rs745506408 |
1534 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA352145819 rs1204934214 |
1536 | T>A | No |
ClinGen TOPMed |
|
|
rs778754301 CA2319863 |
1536 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1537 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352145766 rs1425256199 |
1539 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA352145758 rs1575922472 |
1540 | N>D | No |
ClinGen Ensembl |
|
|
CA352145744 rs1243691130 |
1541 | V>A | No |
ClinGen TOPMed |
|
|
CA352145714 rs1482457457 |
1545 | I>T | No |
ClinGen gnomAD |
|
|
CA352145696 rs1575922424 |
1548 | V>G | No |
ClinGen Ensembl |
|
|
CA352145683 rs1211413207 |
1551 | I>L | No |
ClinGen gnomAD |
|
|
CA352145682 rs1211413207 |
1551 | I>V | No |
ClinGen gnomAD |
|
|
rs766475288 CA2319857 |
1553 | S>C | No |
ClinGen ExAC gnomAD |
|
| rs745999522 | 1554 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352156030 rs1393816464 |
1555 | I>S | No |
ClinGen TOPMed |
|
|
CA352155992 rs1575918046 |
1557 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1557 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352155961 rs1407365595 |
1560 | L>F | No |
ClinGen gnomAD |
|
|
CA352155946 rs1178548561 |
1562 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1563 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352155925 rs1406890315 |
1565 | S>G | No |
ClinGen gnomAD |
|
|
rs200063383 CA352155923 |
1565 | S>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA352155912 rs1355387291 |
1566 | Y>* | No |
ClinGen TOPMed |
|
|
CA352155894 rs1189755436 |
1569 | P>Q | No |
ClinGen gnomAD |
|
|
CA352155890 rs1488286758 |
1570 | T>A | No |
ClinGen gnomAD |
|
|
CA352155888 rs772484960 |
1570 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352155884 rs1351171675 |
1571 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA352155885 rs1351171675 |
1571 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352155863 rs1293275271 |
1574 | V>F | No |
ClinGen TOPMed |
|
|
rs140694303 CA2319828 |
1575 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764476034 COSM1224810 CA2319827 |
1576 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2319826 rs777606824 |
1576 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751743006 CA2319824 |
1579 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759164988 CA72947560 |
1582 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1358993123 CA352155790 |
1583 | I>M | No |
ClinGen gnomAD |
|
|
CA72947557 rs999958499 |
1587 | I>M | No |
ClinGen Ensembl |
|
|
CA2319820 RCV002341534 rs142537392 RCV000598919 |
1588 | R>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2319821 rs142537392 |
1588 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2319818 rs376439863 |
1588 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753004431 CA2319816 |
1589 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432630045 CA352155737 |
1589 | A>S | No |
ClinGen gnomAD |
|
|
rs753004431 CA2319815 |
1589 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760106760 CA2319813 |
1591 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2319812 rs775064110 |
1591 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA72947511 rs866103882 |
1592 | G>R | No |
ClinGen Ensembl |
|
|
rs1575917685 CA352155684 |
1593 | I>T | No |
ClinGen Ensembl |
|
|
rs769338143 CA2319808 |
1594 | R>H | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769338143 CA352155671 |
1594 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1595 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303012255 CA352155652 |
1596 | L>P | No |
ClinGen gnomAD |
|
|
CA352155656 rs1486513002 |
1596 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1598 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201461161 CA2319804 |
1600 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780018527 CA2319803 |
1603 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1373659186 CA352155531 |
1607 | L>V | No |
ClinGen TOPMed |
|
|
rs1057518302 CA16042448 RCV001753847 RCV000413244 |
1609 | N>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1040242066 CA72947452 |
1610 | I>T | No |
ClinGen Ensembl |
|
|
CA72947453 rs900001171 |
1610 | I>V | No |
ClinGen Ensembl |
|
|
CA352155458 rs1476956069 |
1613 | L>F | No |
ClinGen gnomAD |
|
|
CA2319797 rs767767715 |
1615 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1692561 rs1357998439 CA352155429 |
1616 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA352155401 rs1215243361 |
1618 | M>I | No |
ClinGen gnomAD |
|
|
rs1173364314 CA352155387 |
1619 | F>Y | No |
ClinGen TOPMed |
|
|
rs1402339832 CA352155377 |
1620 | I>F | No |
ClinGen TOPMed |
|
|
rs1268657154 CA352155374 |
1620 | I>T | No |
ClinGen gnomAD |
|
|
rs1483331265 COSM1422857 CA352155347 |
1622 | S>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs772613599 CA2319792 |
1623 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1624 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776389291 CA2319789 |
1625 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776389291 CA2319790 |
1625 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352155270 rs775363269 |
1628 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA72947376 rs752476251 |
1630 | P>R | No |
ClinGen Ensembl |
|
|
rs1575917235 CA352155228 |
1632 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1632 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345484480 CA352155189 |
1635 | E>* | No |
ClinGen TOPMed |
|
|
CA352155175 rs1206808062 |
1636 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1636 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM164203 CA2319782 rs765947401 |
1637 | G>A | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2319781 rs765947401 |
1637 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA352155156 rs1467032507 |
1638 | I>L | No |
ClinGen gnomAD |
|
|
rs755345260 CA2319777 |
1640 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA72947357 rs267599797 |
1641 | M>I | No |
ClinGen Ensembl |
|
|
CA72947359 rs945733867 |
1641 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352155071 rs1575917108 |
1646 | T>A | No |
ClinGen Ensembl |
|
|
CA352155060 rs1193262126 |
1647 | F>C | No |
ClinGen TOPMed |
|
|
rs529861077 CA2319775 COSM263523 |
1648 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA352155053 rs1421981232 |
1648 | A>V | No |
ClinGen TOPMed |
|
|
rs1264034262 CA352155025 |
1652 | L>P | No |
ClinGen gnomAD |
|
|
rs1341990928 CA352155027 |
1652 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2319772 rs751007056 |
1653 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408879974 CA352155013 |
1654 | L>P | No |
ClinGen gnomAD |
|
|
rs1416890395 CA352154990 |
1657 | I>T | No |
ClinGen gnomAD |
|
|
CA2319770 rs200761212 COSM3380726 |
1659 | T>M | pancreas Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA72947311 rs998456008 |
1660 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760392111 CA2319767 |
1661 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1553613042 RCV000498227 |
1662 | G>missing | No |
ClinVar dbSNP |
|
|
rs865835309 CA72947306 |
1665 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1668 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319763 rs774384874 |
1668 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319762 rs769737839 |
1668 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA352154916 rs1254609428 |
1669 | P>A | No |
ClinGen gnomAD |
|
|
rs1449527946 CA352154894 |
1671 | L>I | No |
ClinGen gnomAD |
|
|
rs781206011 CA2319759 |
1674 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769013651 CA2319758 |
1674 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352154860 rs781206011 |
1674 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1675 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564943632 CA352154853 |
1675 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1692560 rs758877832 CA2319755 |
1675 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758877832 CA2319756 |
1675 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319753 rs147627083 |
1676 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868843702 CA72947252 |
1676 | P>L | No |
ClinGen Ensembl |
|
|
rs147627083 CA352154850 |
1676 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA72947246 rs927476036 |
1677 | Y>S | No |
ClinGen TOPMed gnomAD |
|
| rs748973626 | 1677 | Y>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165524626 CA352154829 |
1678 | C>R | No |
ClinGen TOPMed |
|
|
rs756686221 CA352154813 |
1679 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319750 rs756686221 |
1679 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763674655 CA2319748 |
1683 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352154764 rs1391894073 |
1684 | N>D | No |
ClinGen TOPMed |
|
|
rs971950651 CA72947235 |
1687 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352154729 rs1392792016 |
1687 | G>S | No |
ClinGen TOPMed |
|
|
rs1334966947 CA352154712 |
1688 | T>I | No |
ClinGen TOPMed |
|
|
CA352154720 rs1575916652 |
1688 | T>P | No |
ClinGen Ensembl |
|
|
rs767267531 CA2319745 |
1689 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2319744 rs759422250 |
1690 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA352154686 rs774106005 |
1691 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319743 rs774106005 |
1691 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770931151 CA2319742 |
1692 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1575916593 CA352154663 |
1692 | C>W | No |
ClinGen Ensembl |
|
|
rs1559406584 CA352154671 |
1692 | C>Y | No |
ClinGen Ensembl |
|
|
CA72947212 rs145756648 COSM107759 |
1693 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs761742228 CA2319741 |
1693 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2319739 rs553109931 |
1694 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1271482518 CA352154612 |
1696 | A>D | No |
ClinGen gnomAD |
|
|
CA352154585 rs201985536 |
1698 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436488932 CA352154576 |
1699 | I>N | No |
ClinGen TOPMed |
|
|
rs1419258340 CA352154554 |
1700 | I>M | No |
ClinGen TOPMed |
|
|
rs199541482 CA72947196 |
1701 | F>L | No |
ClinGen 1000Genomes |
|
|
CA352154515 rs1274527484 |
1703 | T>S | No |
ClinGen gnomAD |
|
|
rs968515082 CA72947181 |
1706 | I>L | No |
ClinGen Ensembl |
|
|
rs1347227915 CA352154474 |
1707 | I>L | No |
ClinGen gnomAD |
|
|
rs1352229133 CA352154467 |
1707 | I>T | No |
ClinGen gnomAD |
|
|
rs779225765 CA2319733 |
1708 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA352154455 rs1575916420 |
1709 | S>C | No |
ClinGen Ensembl |
|
|
rs761341190 CA352154447 |
1710 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1711 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs6599241 RCV000623225 |
1713 | M>= | No |
ClinVar dbSNP |
|
|
rs6599241 CA352154431 |
1713 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA72947157 rs768502292 |
1718 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1719 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172867098 CA352154369 |
1722 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA352154355 rs1481222954 |
1724 | N>D | No |
ClinGen gnomAD |
|
|
CA352154336 rs1420941706 |
1726 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2319726 rs754689622 |
1727 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352154333 rs754689622 COSM1264951 |
1727 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA352154329 rs1575916252 |
1728 | A>T | No |
ClinGen Ensembl |
|
|
rs1029967022 CA72947137 |
1731 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA72947129 rs554841206 |
1732 | S>C | No |
ClinGen 1000Genomes |
|
|
CA2319723 rs762945483 |
1732 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319722 rs773324319 |
1733 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1325931730 CA352154284 |
1735 | P>A | No |
ClinGen gnomAD |
|
|
rs1325931730 CA352154285 |
1735 | P>T | No |
ClinGen gnomAD |
|
|
CA2319720 rs760863009 |
1739 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772347276 CA2319718 |
1741 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1470649665 CA352154223 |
1743 | M>I | No |
ClinGen gnomAD |
|
|
CA2319717 COSM1044320 rs775982060 |
1743 | M>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs895881970 CA72947108 |
1746 | E>A | No |
ClinGen Ensembl |
|
|
CA352154196 rs1169488990 |
1747 | T>A | No |
ClinGen gnomAD |
|
|
CA352154195 rs1169488990 |
1747 | T>S | No |
ClinGen gnomAD |
|
|
RCV000483972 rs1064797008 CA16617954 |
1748 | W>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1420668030 CA352154177 |
1749 | E>D | No |
ClinGen gnomAD |
|
|
rs141767849 CA2319715 |
1749 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472102301 CA352154169 |
1751 | F>I | No |
ClinGen gnomAD |
|
|
CA352154163 rs1237341276 |
1751 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755570717 CA2319712 |
1753 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747687632 CA2319711 |
1754 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA352154146 rs1256454821 |
1754 | E>G | No |
ClinGen gnomAD |
|
|
CA2319710 rs371924465 |
1755 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552795944 CA2319709 |
1755 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352154115 rs1226335596 |
1759 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2319708 rs751237565 |
1761 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319707 rs766168053 |
1762 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs766168053 CA352154095 |
1762 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1330344011 CA352154091 |
1763 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2319704 rs765298863 |
1764 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1692558 CA2319703 rs760775128 |
1764 | L>P | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765298863 CA352154085 |
1764 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352154073 rs1413727393 |
1766 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1767 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319700 rs377121469 |
1769 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774474141 CA352154036 |
1769 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA352154046 rs1285380450 |
1769 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1395442310 CA352154008 |
1772 | S>C | No |
ClinGen TOPMed |
|
|
rs1173829302 CA352154003 |
1773 | G>C | No |
ClinGen TOPMed |
|
|
CA2319697 rs771302766 |
1774 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352153956 rs1452745464 |
1777 | I>N | No |
ClinGen gnomAD |
|
|
rs749673345 CA2319695 |
1778 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773667417 CA2319694 |
1779 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770288343 CA2319692 |
1780 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72947018 rs770288343 |
1780 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372368062 CA2319691 |
1781 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352153894 rs988575222 COSM2986909 |
1782 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA352153896 rs988575222 |
1782 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA72947013 rs267599796 |
1782 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1458523789 CA352153869 |
1784 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352153864 rs1085307543 RCV000489167 |
1784 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1458523789 CA352153872 |
1784 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2319688 rs746653389 |
1785 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2319686 rs758230618 |
1788 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352153792 rs375735101 |
1789 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757243333 CA2319683 |
1790 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1410501729 CA352153764 |
1791 | P>L | No |
ClinGen gnomAD |
|
|
rs1488076050 CA352153752 |
1792 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs759581950 CA2319680 |
1792 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs751754553 CA2319679 |
1793 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1269321305 CA352153749 |
1793 | V>I | No |
ClinGen gnomAD |
|
|
CA352153673 rs1318170890 |
1799 | H>N | No |
ClinGen gnomAD |
|
|
rs1298791907 CA352153664 |
1800 | C>R | No |
ClinGen gnomAD |
|
|
rs773579566 CA2319676 |
1802 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA72946943 rs777896190 |
1802 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA352153582 rs1463117777 |
1804 | L>P | No |
ClinGen TOPMed |
|
|
CA2319675 rs770210577 |
1806 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352153504 rs984789639 CA72946935 |
1809 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2319674 COSM1044316 rs561166361 |
1809 | K>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA352153503 rs1359212020 |
1810 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1298101080 CA352153472 |
1811 | V>I | No |
ClinGen gnomAD |
|
|
CA72946925 rs866518737 |
1813 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2319670 rs779692735 |
1816 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550500385 CA2319669 |
1818 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2319668 rs745578485 |
1819 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1326422062 CA352153340 |
1822 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1823 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1823 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352153316 rs1273291980 |
1824 | N>I | No |
ClinGen TOPMed |
|
|
rs778842299 CA2319667 |
1825 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352153294 rs1218927218 |
1826 | E>K | No |
ClinGen TOPMed |
|
|
CA352153273 rs1205611119 |
1827 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1264954 rs561114332 CA72946904 |
1828 | K>T | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA352153243 rs1559405822 |
1829 | F>S | No |
ClinGen Ensembl |
|
|
rs1208745603 CA352153222 CA352153225 |
1830 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352153229 rs1575915135 |
1830 | M>T | No |
ClinGen Ensembl |
|
|
CA352153233 rs1253727199 |
1830 | M>V | No |
ClinGen gnomAD |
|
|
rs1559405804 CA352153221 |
1831 | A>T | No |
ClinGen Ensembl |
|
|
rs895932660 CA72946897 |
1833 | N>S | No |
ClinGen Ensembl |
|
|
CA352153171 rs1264567014 |
1835 | S>* | No |
ClinGen gnomAD |
|
|
rs1214809165 CA352153155 |
1836 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1575915044 CA352153085 |
1842 | I>M | No |
ClinGen Ensembl |
|
|
rs1411840585 CA352153071 |
1844 | T>A | No |
ClinGen Ensembl |
|
|
rs751593824 CA2319661 |
1844 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319659 rs763148029 |
1846 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1001583386 CA72946880 |
1846 | L>I | No |
ClinGen Ensembl |
|
|
CA352152975 rs1422649645 |
1851 | E>G | No |
ClinGen gnomAD |
|
|
rs947319524 CA72946866 |
1851 | E>K | No |
ClinGen Ensembl |
|
|
CA2319655 rs777159266 |
1852 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA72946860 rs1045519888 |
1853 | I>N | No |
ClinGen TOPMed |
|
|
rs1369014180 CA352152954 |
1853 | I>V | No |
ClinGen Ensembl |
|
|
rs769051766 CA2319654 |
1855 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs146269698 CA2319653 |
1859 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146269698 CA72946852 |
1859 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774853006 CA2319652 |
1860 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2319651 rs771771293 |
1861 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352152859 rs771771293 |
1861 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559405676 CA352152851 |
1861 | A>V | No |
ClinGen Ensembl |
|
|
CA2319649 rs774192739 |
1862 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191869263 CA2319647 |
1863 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191869263 CA2319646 |
1863 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377518708 CA2319644 |
1865 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352152795 rs1486573792 |
1866 | V>G | No |
ClinGen TOPMed |
|
|
CA352152771 rs141648641 |
1869 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2319640 rs765477377 |
1869 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA72946804 rs765477377 |
1869 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352152763 rs1366699415 |
1870 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1871 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319638 rs754170644 |
1872 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776101575 CA2319636 |
1873 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs776101575 CA2319635 |
1873 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2319634 rs767110682 |
1874 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs866739968 CA72946790 |
1876 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2319629 rs772869110 |
1879 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1245874787 CA352152674 |
1879 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1237962958 CA352152665 |
1880 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1880 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352152668 rs1211505552 |
1880 | P>T | No |
ClinGen TOPMed |
|
|
CA352152661 rs1335429159 |
1881 | R>T | No |
ClinGen gnomAD |
|
|
rs984435089 CA72946774 |
1885 | E>K | No |
ClinGen gnomAD |
|
|
rs1440748277 COSM1044313 CA352152621 |
1887 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA352152603 rs1425242873 |
1890 | P>Q | No |
ClinGen gnomAD |
|
|
rs1559405463 CA352152593 |
1891 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 1894 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386947593 CA352152573 |
1894 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2319624 rs745954161 |
1895 | V>F | No |
ClinGen ExAC |
|
|
rs1559405422 CA352152561 |
1896 | A>E | No |
ClinGen Ensembl |
|
|
CA2319622 rs757410960 |
1896 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397250768 CA352152560 |
1897 | F>I | No |
ClinGen TOPMed |
|
|
rs754159937 CA2319621 |
1897 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000497532 CA352152549 rs1553612806 |
1898 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs905568903 CA72946738 |
1900 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1319645939 CA352152532 |
1901 | E>A | No |
ClinGen TOPMed |
|
|
rs867769022 CA72946735 |
1901 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1014034215 CA72946734 |
1903 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 1905 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753204125 CA2319617 |
1906 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs376432760 CA72946729 |
1907 | D>E | No |
ClinGen Ensembl |
|
|
rs768167768 CA2319616 |
1908 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs555184897 CA352152483 |
1908 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1908 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329504545 CA352152473 |
1910 | E>A | No |
ClinGen gnomAD |
|
|
rs766044564 CA2319613 COSM149360 |
1912 | A>S | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2319612 rs762508511 |
1912 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA72946712 rs960482332 |
1915 | T>I | No |
ClinGen Ensembl |
|
|
rs769427963 CA2319610 |
1918 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1047449169 CA72946706 |
1919 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761700759 CA2319609 |
1919 | P>T | No |
ClinGen ExAC |
|
|
CA2319606 rs1553612780 |
1920 | S>F | No |
ClinGen Ensembl |
|
|
rs778955408 CA2319603 |
1921 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2319602 rs376810032 |
1922 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480939511 CA352152392 |
1924 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1926 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319600 rs756396678 |
1926 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2319599 rs756396678 |
1926 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA72946669 rs201024779 |
1927 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1927 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285061982 CA352152369 |
1928 | L>I | No |
ClinGen gnomAD |
|
|
CA352152360 rs1575914128 |
1929 | S>T | No |
ClinGen Ensembl |
|
|
CA2319596 rs755530255 |
1930 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs541899935 CA72946663 |
1931 | R>T | No |
ClinGen Ensembl |
|
|
CA352152343 rs1385045981 |
1932 | V>L | No |
ClinGen TOPMed |
|
|
rs1347122827 CA352152334 |
1933 | N>S | No |
ClinGen gnomAD |
|
|
rs750002472 CA2319592 |
1934 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764945982 CA2319591 |
1935 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1412226048 CA352152310 |
1937 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1938 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352152287 rs1559405198 |
1940 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA72946647 rs905916841 |
1940 | I>V | No |
ClinGen Ensembl |
|
|
rs776395377 CA2319589 |
1941 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1942 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1942 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768502791 CA2319588 |
1944 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2319587 rs760570118 |
1945 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1322565705 CA352152234 |
1948 | S>C | No |
ClinGen TOPMed |
|
|
rs1329148662 CA352152222 |
1949 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352152223 rs1243163280 |
1949 | M>R | No |
ClinGen gnomAD |
|
|
rs1475377335 CA352152227 |
1949 | M>V | No |
ClinGen gnomAD |
|
|
rs749420331 CA2319584 |
1951 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770070419 CA2319582 |
1953 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1328533509 CA352152191 |
1954 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1955 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748441157 CA352152184 |
1956 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1439987908 | 1957 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q9Y5Y9
[MIM: 615551]: Episodic pain syndrome, familial, 2 (FEPS2)
An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities. {ECO:0000269|PubMed:23115331}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities. {ECO:0000269|PubMed:23115331}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q9Y5Y9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ion transport domain | 129 - 407 | IPR005821-1 |
| domain | Ion transport domain | 666 - 894 | IPR005821-2 |
| domain | Ion transport domain | 1151 - 1427 | IPR005821-3 |
| domain | Ion transport domain | 1476 - 1732 | IPR005821-4 |
| domain | Sodium ion transport-associated domain | 904 - 1147 | IPR010526 |
| domain | Voltage-gated sodium channel alpha subunit, inactivation gate | 1419 - 1471 | IPR044564 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| clathrin complex | A protein complex that consists of three clathrin heavy chains and three clathrin light chains, organized into a symmetrical three-legged structure called a triskelion. In clathrin-coated vesicles clathrin is the main component of the coat and forms a polymeric mechanical scaffold on the vesicle surface. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of presynaptic membrane | The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| voltage-gated sodium channel complex | A sodium channel in a cell membrane whose opening is governed by the membrane potential. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| voltage-gated ion channel activity | Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| AV node cell action potential | An action potential that occurs in an atrioventricular node cardiac muscle cell. |
| bundle of His cell action potential | An action potential that occurs in a bundle of His cell. |
| membrane depolarization during action potential | The process in which membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| neuronal action potential | An action potential that occurs in a neuron. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| regulation of atrial cardiac muscle cell membrane depolarization | Any process that modulates the establishment or extent of a membrane potential in the depolarizing direction away from the resting potential in an atrial cardiomyocyte. |
| regulation of cardiac muscle contraction | Any process that modulates the frequency, rate or extent of cardiac muscle contraction. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| sensory perception | The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| sensory perception of pain | The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6YLX9 | TPC1 | Two pore calcium channel protein 1 | Triticum aestivum (Wheat) | PR |
| P91645 | MED20 | Voltage-dependent calcium channel type A subunit alpha-1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XQ3 | CATSPER3 | Cation channel sperm-associated protein 3 | Homo sapiens (Human) | PR |
| Q96P56 | CATSPER2 | Cation channel sperm-associated protein 2 | Homo sapiens (Human) | PR |
| Q14524 | SCN5A | Sodium channel protein type 5 subunit alpha | Homo sapiens (Human) | PR |
| Q9UQD0 | SCN8A | Sodium channel protein type 8 subunit alpha | Homo sapiens (Human) | PR |
| A2ARP9 | Catsper2 | Cation channel sperm-associated protein 2 | Mus musculus (Mouse) | PR |
| Q9WTU3 | Scn8a | Sodium channel protein type 8 subunit alpha | Mus musculus (Mouse) | PR |
| Q62205 | Scn9a | Sodium channel protein type 9 subunit alpha | Mus musculus (Mouse) | PR |
| Q9JJV9 | Scn5a | Sodium channel protein type 5 subunit alpha | Mus musculus (Mouse) | PR |
| Q6QIY3 | Scn10a | Sodium channel protein type 10 subunit alpha | Mus musculus (Mouse) | PR |
| O88420 | Scn8a | Sodium channel protein type 8 subunit alpha | Rattus norvegicus (Rat) | PR |
| O88457 | Scn11a | Sodium channel protein type 11 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q62968 | Scn10a | Sodium channel protein type 10 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q5QM84 | TPC1 | Two pore calcium channel protein 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q94KI8 | TPC1 | Two pore calcium channel protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEFPIGSLET | NNFRRFTPES | LVEIEKQIAA | KQGTKKAREK | HREQKDQEEK | PRPQLDLKAC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NQLPKFYGEL | PAELIGEPLE | DLDPFYSTHR | TFMVLNKGRT | ISRFSATRAL | WLFSPFNLIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RTAIKVSVHS | WFSLFITVTI | LVNCVCMTRT | DLPEKIEYVF | TVIYTFEALI | KILARGFCLN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EFTYLRDPWN | WLDFSVITLA | YVGTAIDLRG | ISGLRTFRVL | RALKTVSVIP | GLKVIVGALI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSVKKLADVT | ILTIFCLSVF | ALVGLQLFKG | NLKNKCVKND | MAVNETTNYS | SHRKPDIYIN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRGTSDPLLC | GNGSDSGHCP | DGYICLKTSD | NPDFNYTSFD | SFAWAFLSLF | RLMTQDSWER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LYQQTLRTSG | KIYMIFFVLV | IFLGSFYLVN | LILAVVTMAY | EEQNQATTDE | IEAKEKKFQE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALEMLRKEQE | VLAALGIDTT | SLHSHNGSPL | TSKNASERRH | RIKPRVSEGS | TEDNKSPRSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PYNQRRMSFL | GLASGKRRAS | HGSVFHFRSP | GRDISLPEGV | TDDGVFPGDH | ESHRGSLLLG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GGAGQQGPLP | RSPLPQPSNP | DSRHGEDEHQ | PPPTSELAPG | AVDVSAFDAG | QKKTFLSAEY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LDEPFRAQRA | MSVVSIITSV | LEELEESEQK | CPPCLTSLSQ | KYLIWDCCPM | WVKLKTILFG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LVTDPFAELT | ITLCIVVNTI | FMAMEHHGMS | PTFEAMLQIG | NIVFTIFFTA | EMVFKIIAFD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PYYYFQKKWN | IFDCIIVTVS | LLELGVAKKG | SLSVLRSFRL | LRVFKLAKSW | PTLNTLIKII |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GNSVGALGNL | TIILAIIVFV | FALVGKQLLG | ENYRNNRKNI | SAPHEDWPRW | HMHDFFHSFL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IVFRILCGEW | IENMWACMEV | GQKSICLILF | LTVMVLGNLV | VLNLFIALLL | NSFSADNLTA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PEDDGEVNNL | QVALARIQVF | GHRTKQALCS | FFSRSCPFPQ | PKAEPELVVK | LPLSSSKAEN |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HIAANTARGS | SGGLQAPRGP | RDEHSDFIAN | PTVWVSVPIA | EGESDLDDLE | DDGGEDAQSF |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| QQEVIPKGQQ | EQLQQVERCG | DHLTPRSPGT | GTSSEDLAPS | LGETWKDESV | PQVPAEGVDD |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| TSSSEGSTVD | CLDPEEILRK | IPELADDLEE | PDDCFTEGCI | RHCPCCKLDT | TKSPWDVGWQ |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VRKTCYRIVE | HSWFESFIIF | MILLSSGSLA | FEDYYLDQKP | TVKALLEYTD | RVFTFIFVFE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| MLLKWVAYGF | KKYFTNAWCW | LDFLIVNISL | ISLTAKILEY | SEVAPIKALR | TLRALRPLRA |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LSRFEGMRVV | VDALVGAIPS | IMNVLLVCLI | FWLIFSIMGV | NLFAGKFWRC | INYTDGEFSL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| VPLSIVNNKS | DCKIQNSTGS | FFWVNVKVNF | DNVAMGYLAL | LQVATFKGWM | DIMYAAVDSR |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| EVNMQPKWED | NVYMYLYFVI | FIIFGGFFTL | NLFVGVIIDN | FNQQKKKLGG | QDIFMTEEQK |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| KYYNAMKKLG | SKKPQKPIPR | PLNKFQGFVF | DIVTRQAFDI | TIMVLICLNM | ITMMVETDDQ |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| SEEKTKILGK | INQFFVAVFT | GECVMKMFAL | RQYYFTNGWN | VFDFIVVVLS | IASLIFSAIL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| KSLQSYFSPT | LFRVIRLARI | GRILRLIRAA | KGIRTLLFAL | MMSLPALFNI | GLLLFLVMFI |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| YSIFGMSSFP | HVRWEAGIDD | MFNFQTFANS | MLCLFQITTS | AGWDGLLSPI | LNTGPPYCDP |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| NLPNSNGTRG | DCGSPAVGII | FFTTYIIISF | LIMVNMYIAV | ILENFNVATE | ESTEPLSEDD |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| FDMFYETWEK | FDPEATQFIT | FSALSDFADT | LSGPLRIPKP | NRNILIQMDL | PLVPGDKIHC |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| LDILFAFTKN | VLGESGELDS | LKANMEEKFM | ATNLSKSSYE | PIATTLRWKQ | EDISATVIQK |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| AYRSYVLHRS | MALSNTPCVP | RAEEEAASLP | DEGFVAFTAN | ENCVLPDKSE | TASATSFPPS |
| 1930 | 1940 | 1950 | |||
| YESVTRGLSD | RVNMRTSSSI | QNEDEATSME | LIAPGP |