O15020
PR
Gene name |
SPTBN2 (KIAA0302, SCA5) |
Protein name |
Spectrin beta chain, non-erythrocytic 2 |
Names |
Beta-III spectrin, Spinocerebellar ataxia 5 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6712 |
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
4 structures for O15020
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WJM | NMR | - | A | 2219-2328 | PDB |
| 1WYQ | NMR | - | A | 178-291 | PDB |
| 6ANU | EM | 700 A | a/b/c/d/e/f | 1-284 | PDB |
| AF-O15020-F1 | Predicted | AlphaFoldDB |
1983 variants for O15020
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs147766428 RCV002244994 RCV002525090 CA6129776 RCV000585022 |
31 | S>L | Spinocerebellar ataxia type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000494630 rs797046006 RCV000192407 CA205211 |
61 | K>E | Cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000520202 CA6129677 RCV000267891 rs150610657 |
136 | M>V | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000211499 CA10576252 rs875989881 |
157 | I>T | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10639135 rs886048552 COSM930916 RCV000378762 |
159 | R>Q | Autosomal dominant cerebellar ataxia Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_026767 RCV001682706 RCV000005593 CA253456 rs121918306 |
253 | L>P | Spinocerebellar ataxia type 5 SCA5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000623228 CA16619383 rs139240091 RCV000478330 |
258 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001330338 rs1941829953 |
271 | T>I | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196954 rs897181468 CA381482543 |
301 | M>V | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000908134 rs564046722 RCV000309029 COSM285345 CA6129521 |
308 | E>D | Autosomal dominant cerebellar ataxia large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6129515 RCV000362679 RCV000270397 rs190532690 RCV000992875 |
323 | Q>R | Autosomal dominant cerebellar ataxia Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA381482215 rs541484241 RCV000995650 |
351 | R>P | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
COSM930910 CA6129466 rs772590586 RCV000992840 RCV002225122 |
387 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Spinocerebellar ataxia type 5 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA381481539 RCV001352896 rs1318256630 |
414 | R>C | Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1590955348 RCV000991208 |
426 | L>missing | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554986345 RCV000520415 CA381481186 RCV001027673 |
436 | M>T | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554986337 RCV000658607 RCV000677650 CA381481174 |
437 | R>Q | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193661 RCV002284470 rs1941669517 |
437 | R>W | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001568501 VAR_070232 CA264227 COSM40655 rs397514749 RCV000054554 |
480 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system Spinocerebellar ataxia type 5 SCA5 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs763948508 CA6129366 RCV001851463 RCV002525085 RCV000517085 |
486 | A>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001253295 RCV000658606 CA6129367 RCV002531107 rs143155918 RCV001289186 |
486 | A>T | Spinocerebellar ataxia type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001328564 rs371919862 |
517 | R>G | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554985851 RCV000518014 RCV000005591 |
532 | E>missing | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_026768 | 532 | E>del | SCA5 [UniProt] | Yes | UniProt |
|
COSM1298480 RCV000376280 rs372241839 CA6129288 |
574 | E>K | Autosomal dominant cerebellar ataxia Variant assessed as Somatic; 0.0 impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001815002 RCV000578450 RCV000992843 CA381479527 rs1554984881 |
626 | L>P | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA144690 rs146859515 RCV000054553 |
627 | C>* | Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1941485201 VAR_026769 RCV000005592 |
629 | L>W | Spinocerebellar ataxia type 5 SCA5 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000623874 rs1554984826 |
635 | A>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA204797 rs769987150 RCV000190760 |
639 | E>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753491527 CA6129205 RCV001169870 |
658 | R>Q | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000615273 CA6129206 rs199968321 RCV000370069 RCV000963095 |
658 | R>W | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1443491358 RCV002546383 RCV001330334 CA381479031 |
671 | R>Q | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000357356 CA6129182 RCV002520740 rs200016211 RCV001859817 RCV000274229 |
721 | R>H | Autosomal dominant cerebellar ataxia Autosomal recessive cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000576642 RCV000959983 rs4930388 |
825 | S>= | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001518727 VAR_026770 RCV001808734 RCV000336627 CA6129111 rs4930388 RCV001808735 |
825 | S>G | Spinocerebellar ataxia type 5 Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001171655 rs761263852 RCV002527533 CA6129077 |
883 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000306197 CA6129039 RCV002275009 rs145702618 |
895 | E>K | Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002527534 RCV000932384 CA6129018 RCV000516375 rs147327184 |
924 | P>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000341209 CA6128993 RCV000992848 rs377663856 |
945 | R>H | Autosomal dominant cerebellar ataxia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000054555 rs373728971 |
955 | T>missing | Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769417045 RCV001263438 CA6128963 |
999 | R>H | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000576380 RCV000390858 RCV001518726 CA155291 RCV000118411 VAR_026771 rs506028 |
1034 | V>A | Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs549918589 RCV002531065 RCV000593847 CA6128933 |
1038 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000882266 rs148826890 RCV001786359 CA6128931 RCV001289200 RCV000346859 |
1039 | R>Q | Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000289580 rs753324919 RCV003165830 RCV000992849 CA6128911 |
1065 | R>Q | Autosomal dominant cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6128903 rs763021473 RCV001198656 |
1079 | A>V | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs372569008 CA6128886 RCV000899930 RCV002540195 |
1116 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000779074 rs1402216317 CA381474684 |
1144 | R>* | Variant assessed as Somatic; 0.0 impact. Autosomal recessive cerebellar ataxia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000293515 RCV000713042 rs558572111 CA6128867 |
1144 | R>Q | Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000713043 CA6128803 RCV002532947 rs139077453 |
1224 | N>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001283517 CA6128800 rs114788199 RCV000713044 RCV000319313 |
1229 | H>R | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141683210 RCV000585497 RCV002244993 CA6128793 RCV000516584 |
1241 | E>G | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766723349 RCV000658602 RCV002536331 CA6128784 |
1250 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000593657 CA6128755 rs148065361 RCV000765002 |
1267 | A>V | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6128748 rs148878156 RCV000315842 |
1275 | R>W | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201852582 RCV000709892 CA6128706 RCV001861945 |
1310 | R>H | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6128657 rs199675740 RCV000360014 RCV001399074 |
1374 | A>T | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000395720 rs765561071 CA6128611 |
1444 | A>T | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1940772032 RCV001330335 |
1453 | D>V | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142378119 CA6128605 RCV000992854 RCV002549813 |
1458 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6128592 RCV001857929 RCV000517042 RCV002527538 rs146137419 |
1473 | L>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6128583 rs373270554 RCV001291096 |
1482 | R>W | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6128581 RCV001287925 RCV000903439 rs115062978 RCV000365987 |
1483 | R>C | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001337039 rs1940755126 RCV002295339 |
1499 | D>V | Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368125962 CA10635397 RCV001859816 COSM1227486 RCV000308925 |
1572 | R>C | Autosomal dominant cerebellar ataxia large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000374169 rs886048548 CA10639129 |
1750 | R>S | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1940531426 RCV001196321 |
1835 | A>V | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6128207 rs755595060 RCV002532405 RCV000592353 |
1865 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs35532855 CA6128194 RCV000516821 RCV000278400 |
1880 | R>H | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002056225 CA6128181 rs759505522 RCV003165829 RCV000372867 |
1898 | A>T | Autosomal dominant cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000322971 rs145750214 CA6128158 RCV001770242 |
1935 | R>H | Autosomal dominant cerebellar ataxia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000267857 CA10639801 rs886048547 |
1957 | E>D | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000357655 rs200370228 CA6128123 |
1962 | R>C | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000994662 RCV002468612 rs1590911156 |
1997 | E>missing | Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200529832 RCV002534484 RCV000709891 CA6128049 |
2037 | R>C | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs541138596 CA6128030 RCV000365596 |
2074 | K>Q | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000660459 rs764407421 RCV000306514 RCV000523983 CA6128006 |
2081 | R>Q | Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6127999 RCV002056223 rs569905004 RCV000270076 |
2089 | R>K | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10631308 rs886048546 RCV000314625 |
2144 | T>I | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6127914 RCV000516939 rs376920607 RCV002525088 |
2157 | R>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859183 CA6127864 rs759206588 RCV001196320 |
2179 | R>Q | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760467359 RCV000485911 RCV002526979 CA6127861 |
2183 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001287937 RCV002537967 rs200876976 CA6127855 |
2188 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376249009 CA6127854 RCV000337478 COSM84090 |
2189 | P>L | Autosomal dominant cerebellar ataxia Variant assessed as Somatic; 5.071e-05 impact. pancreas [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000992871 RCV002550647 CA6127853 rs199880827 |
2191 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000405082 CA10639798 rs886048545 |
2225 | L>P | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002522647 CA16606978 rs1057524207 RCV000435011 |
2227 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1940196069 RCV001195732 |
2230 | E>Q | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369469000 RCV000517005 RCV002275055 RCV002525089 CA6127799 |
2246 | V>M | Spinocerebellar ataxia type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6127798 RCV002535829 RCV000791109 rs201138924 |
2247 | Y>H | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002520738 CA6127796 rs150607879 RCV000380137 RCV000898402 |
2251 | R>W | Autosomal dominant cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6127793 RCV002527292 RCV000503011 RCV002527293 rs529514462 |
2252 | R>H | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201670045 CA10635379 RCV000339524 |
2253 | G>R | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs145891813 CA6127787 RCV000285047 RCV001660600 RCV000907554 |
2266 | A>V | Autosomal dominant cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001863220 CA6127783 RCV001330336 rs750623875 |
2268 | V>M | Autosomal recessive spinocerebellar ataxia 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1940076802 RCV001197990 |
2366 | P>S | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1940076270 RCV001262269 |
2368 | V>A | Spinocerebellar ataxia type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002533834 RCV000760172 RCV001849187 rs145522851 CA6127635 RCV001092901 |
2370 | R>H | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 5 Inborn genetic diseases Autosomal recessive spinocerebellar ataxia 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 4 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749463565 CA224101734 |
4 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749463565 CA6129786 |
4 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381485375 rs1239445065 |
7 | P>L | No |
ClinGen TOPMed |
|
|
rs773027732 CA6129784 |
8 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1235974980 CA381485371 |
8 | T>R | No |
ClinGen gnomAD |
|
|
CA6129782 rs747934235 |
16 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs377573278 CA6129780 |
18 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129778 rs781276338 |
20 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1023961480 CA224101671 |
20 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 21 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381485248 rs1399781384 |
25 | R>C | No |
ClinGen TOPMed |
|
|
rs1565157355 CA381485234 |
26 | W>* | No |
ClinGen Ensembl |
|
|
rs1013903563 CA224101670 |
27 | D>N | No |
ClinGen TOPMed |
|
|
rs1257151945 CA381485202 |
29 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373669452 CA6129777 RCV000500765 |
31 | S>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs935849810 CA224101627 |
32 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6129774 rs370531619 |
35 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370531619 CA6129773 |
35 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381485120 rs765521246 |
36 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6129772 rs765521246 |
36 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6129771 rs760026876 |
37 | S>G | No |
ClinGen ExAC |
|
| TCGA novel | 39 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6129766 rs149103293 |
41 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149103293 CA6129767 |
41 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590981699 CA381485007 |
46 | S>A | No |
ClinGen Ensembl |
|
|
CA381484994 rs1378267921 |
47 | R>C | No |
ClinGen gnomAD |
|
|
CA6129763 rs768391963 |
47 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6129764 rs768391963 |
47 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1198850466 CA381484986 |
48 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381484947 rs1439956051 |
51 | L>V | No |
ClinGen gnomAD |
|
|
CA381484436 rs1217789386 COSM3723698 COSM3723699 |
55 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA381484419 RCV000499933 rs1554989512 |
58 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6129743 rs769557138 |
64 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA381484354 rs1565151628 |
67 | V>I | No |
ClinGen Ensembl |
|
|
CA6129741 rs773270398 |
69 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590970853 CA381484332 |
70 | H>P | No |
ClinGen Ensembl |
|
|
CA381484325 rs1241364345 |
71 | L>P | No |
ClinGen gnomAD |
|
|
rs1300028290 CA381484315 |
73 | R>Q | No |
ClinGen gnomAD |
|
|
rs536375005 CA6129738 COSM194442 |
73 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs369925402 CA6129737 |
75 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780472257 CA6129735 |
76 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6129733 rs183081994 |
77 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243402 rs200956071 RCV000177266 |
77 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA381484291 rs149918123 |
78 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149918123 CA6129732 RCV001289191 |
78 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775075817 CA381484274 |
80 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6129729 rs762677201 |
80 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772427786 CA224097024 |
81 | L>M | No |
ClinGen Ensembl |
|
|
rs765078549 CA6129727 |
83 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272630539 CA381484252 |
84 | D>N | No |
ClinGen gnomAD |
|
|
CA6129724 rs770888940 |
86 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776593274 CA6129725 |
86 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3769417 RCV000713036 CA381484210 rs1565151375 COSM3769418 |
89 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs374485184 CA6129721 COSM1582106 |
89 | R>H | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6129722 rs374485184 |
89 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749591934 CA6129720 |
90 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs191736279 CA6129717 |
93 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224096913 rs986153925 |
96 | E>K | No |
ClinGen Ensembl |
|
|
CA381484127 rs1590970534 |
97 | V>G | No |
ClinGen Ensembl |
|
|
CA381484132 rs1401862278 |
97 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1171949662 CA381484102 |
99 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 102 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143691410 CA6129691 |
108 | K>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1237726892 CA381483928 COSM3710398 COSM3710399 |
110 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6129690 rs778491140 |
110 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381483907 rs1309547051 |
112 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760516394 CA6129686 |
119 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381483828 rs1565150741 |
120 | D>N | No |
ClinGen Ensembl |
|
|
CA6129685 rs200462640 |
121 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764048472 CA6129684 |
121 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6129682 COSM263862 rs376084729 |
122 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA381483801 rs1164430196 |
124 | Q>R | No |
ClinGen gnomAD |
|
|
rs140092196 CA6129680 |
127 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129679 rs777128229 |
128 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381483776 rs777128229 |
128 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772480880 CA6129675 |
139 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554989084 RCV000517473 CA381483603 |
153 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779801896 CA6129670 |
156 | I>M | No |
ClinGen ExAC |
|
|
rs753547565 CA6129671 |
156 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129669 rs755976699 |
159 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755976699 CA381483567 |
159 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 161 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381483470 rs755741689 |
171 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6129652 rs755741689 |
171 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA381483457 rs1197833233 |
172 | N>K | No |
ClinGen gnomAD |
|
|
rs1373599834 CA381483461 |
172 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA381483439 rs1431236793 |
175 | K>* | No |
ClinGen gnomAD |
|
|
CA381483435 rs1269016964 |
175 | K>R | No |
ClinGen gnomAD |
|
|
RCV000423934 CA16606980 rs1057524761 |
178 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751600453 CA6129648 |
184 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565149618 CA381483372 |
185 | W>* | No |
ClinGen Ensembl |
|
|
CA381483367 rs1565149610 |
185 | W>C | No |
ClinGen Ensembl |
|
|
rs1398767412 CA381483355 |
187 | Q>P | No |
ClinGen TOPMed |
|
|
rs1255934393 CA381483328 |
190 | T>I | No |
ClinGen gnomAD |
|
|
CA6129647 rs765382378 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758425427 CA6129627 |
194 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381483290 rs1394260635 |
195 | N>D | No |
ClinGen gnomAD |
|
|
rs753891242 CA6129626 |
195 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759212663 CA6129625 |
196 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148154681 CA6129624 RCV002527539 RCV000517821 |
197 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1346478071 CA381483272 |
198 | V>I | No |
ClinGen Ensembl |
|
|
CA381483246 rs542921885 |
201 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6129622 rs542921885 |
201 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224095421 rs144845452 |
204 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367430773 CA381483227 |
204 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445671850 CA381483200 |
208 | G>R | No |
ClinGen gnomAD |
|
|
rs763454432 CA6129619 |
212 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769243897 CA6129617 |
213 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746447648 CA224095360 |
214 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs368261373 CA6129616 |
214 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381483158 rs1355691932 |
215 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6129614 RCV000517872 rs770733211 |
219 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1464486484 CA381483111 |
220 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381483109 rs1311966601 |
220 | P>Q | No |
ClinGen TOPMed |
|
|
rs1464486484 CA381483112 |
220 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA224095095 rs923372041 |
221 | D>G | No |
ClinGen TOPMed |
|
|
CA381483045 rs1245195138 |
230 | K>E | No |
ClinGen gnomAD |
|
|
CA6129594 rs773129687 |
231 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224095047 rs879014329 |
232 | N>S | No |
ClinGen Ensembl |
|
|
rs1565148758 CA381483020 |
233 | A>G | No |
ClinGen Ensembl |
|
|
rs748088213 CA6129592 |
235 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6129591 rs778677450 |
239 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1216885710 CA381482970 |
240 | A>V | No |
ClinGen TOPMed |
|
|
rs745878051 CA6129589 |
244 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781252054 CA6129588 |
246 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA381482915 rs1287467322 |
249 | G>R | No |
ClinGen TOPMed |
|
|
rs373650492 RCV001287941 CA6129586 |
251 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 256 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs139240091 | 258 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6129558 rs767017885 |
259 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181386686 CA381482827 |
260 | N>K | No |
ClinGen gnomAD |
|
|
rs1255339790 CA381482811 |
263 | Q>E | No |
ClinGen gnomAD |
|
|
CA6129555 rs774011879 |
263 | Q>H | No |
ClinGen ExAC |
|
|
rs958144772 CA224092917 |
264 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1941830514 RCV001287942 |
265 | D>G | No |
ClinVar dbSNP |
|
|
rs1941830514 RCV001288389 |
265 | D>V | No |
ClinVar dbSNP |
|
|
CA381482786 rs1485913976 |
266 | E>D | No |
ClinGen gnomAD |
|
|
rs146831914 CA6129554 |
269 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224092913 rs1028776107 |
270 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6129553 rs548652480 |
272 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879166027 CA224092906 |
273 | V>M | No |
ClinGen Ensembl |
|
|
CA381482733 rs1270300418 |
275 | T>A | No |
ClinGen TOPMed |
|
|
CA6129551 rs769752380 |
275 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1313165423 CA381482653 |
285 | A>V | No |
ClinGen TOPMed |
|
|
rs772181504 CA6129548 |
288 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs375887259 CA6129547 |
289 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224092863 rs996766699 |
289 | E>V | No |
ClinGen TOPMed |
|
|
CA381482605 rs1455508695 |
293 | I>T | No |
ClinGen gnomAD |
|
|
rs1254296798 CA381482562 |
298 | D>A | No |
ClinGen gnomAD |
|
|
CA381482558 rs1183852629 |
298 | D>E | No |
ClinGen TOPMed |
|
|
rs1238889133 CA381482557 |
299 | H>N | No |
ClinGen TOPMed |
|
|
CA6129530 rs761911577 |
299 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1250134497 CA381482540 |
301 | M>I | No |
ClinGen gnomAD |
|
|
rs897181468 COSM544740 CA224092723 |
301 | M>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6129529 rs368438742 |
301 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230067937 CA381482536 |
302 | E>K | No |
ClinGen gnomAD |
|
|
CA6129527 rs749609256 |
303 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768784466 CA6129528 |
303 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372293906 CA6129526 |
305 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770418403 COSM3416160 COSM3416159 CA6129525 |
305 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6129522 rs374378152 |
308 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777432034 CA381482481 |
310 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381482450 rs1373892107 |
315 | S>L | No |
ClinGen TOPMed |
|
|
CA6129518 rs371571696 |
316 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129517 rs765078204 |
319 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759451802 CA6129516 RCV000516221 |
322 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs766259767 CA381482391 |
324 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129514 rs766259767 RCV000597015 |
324 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs928388614 CA224092643 |
325 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6129512 rs774310053 |
325 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1350247851 CA381482384 |
326 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1350247851 CA381482385 |
326 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA224092636 rs958370594 |
327 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381482365 rs1304442241 |
329 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1241519890 CA381482360 |
330 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768931766 CA6129511 |
331 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1239508093 CA381482351 |
331 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381482306 rs1329565228 |
338 | S>G | No |
ClinGen TOPMed |
|
|
rs770330570 CA6129508 |
338 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs138740917 CA381482302 |
338 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs975401166 CA224092591 |
339 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777151419 CA6129506 |
343 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381482238 rs1554987311 RCV000502869 |
348 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA208604 RCV000194435 rs797046005 |
348 | N>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs797046005 CA381482235 |
348 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 350 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381482216 rs1344872569 |
351 | R>C | No |
ClinGen TOPMed |
|
|
rs541484241 CA6129505 |
351 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209084969 CA381482205 |
353 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs552728519 CA381482170 |
358 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552728519 CA6129500 |
358 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381481900 rs1192942514 |
361 | E>G | No |
ClinGen gnomAD |
|
|
COSM388990 rs1420795249 CA381481902 |
361 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA381481903 rs1420795249 |
361 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA381481878 rs1273743898 |
364 | N>S | No |
ClinGen gnomAD |
|
|
rs1590956841 CA381481806 |
374 | S>R | No |
ClinGen Ensembl |
|
|
rs1369821568 CA381481788 |
377 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199861592 CA6129472 RCV001289182 |
377 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1323243636 CA381481768 |
380 | N>S | No |
ClinGen gnomAD |
|
|
CA6129468 COSM3376019 COSM3376020 rs761216500 |
385 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA224091324 rs1002318320 COSM1356317 |
387 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6129464 rs773857389 |
388 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748949657 CA6129462 |
390 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129463 rs373204092 |
390 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129461 rs779874676 |
393 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA224091249 rs949462928 |
394 | D>E | No |
ClinGen gnomAD |
|
|
CA6129441 rs781135731 |
399 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs770986418 CA381481622 |
400 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129438 rs779023477 |
401 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746994330 CA6129439 |
401 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA381481617 rs1266396264 |
402 | L>V | No |
ClinGen TOPMed |
|
|
CA6129437 rs202000642 |
403 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381481592 rs1226702717 |
405 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756333880 CA6129434 |
406 | E>G | No |
ClinGen ExAC |
|
|
rs1189828115 CA381481574 |
408 | E>G | No |
ClinGen gnomAD |
|
|
CA6129432 rs373539955 |
408 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381481576 rs373539955 |
408 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6129431 rs762283482 |
409 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224090658 rs140454154 |
412 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381481547 rs140454154 |
412 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA224090641 rs903948525 |
414 | R>H | No |
ClinGen gnomAD |
|
|
rs747373105 CA6129428 |
416 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76616877 CA6129425 |
419 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs534424012 CA6129424 |
419 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs76616877 CA224090589 |
419 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381481506 rs1565142379 |
420 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 421 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886041245 RCV000358002 |
421 | E>missing | No |
ClinVar dbSNP |
|
|
rs770892589 RCV000174118 CA239592 |
422 | K>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA224090557 rs909778698 |
422 | K>R | No |
ClinGen TOPMed |
|
|
rs372390933 CA6129419 |
428 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372390933 CA381481453 |
428 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1415601783 CA381481449 |
428 | A>V | No |
ClinGen gnomAD |
|
|
rs1590955288 CA381481242 |
431 | D>A | No |
ClinGen Ensembl |
|
|
rs1169360224 CA381481236 |
431 | D>E | No |
ClinGen gnomAD |
|
|
rs746140592 CA6129417 |
431 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129416 rs781504409 |
432 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA224090467 rs908342992 |
432 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 433 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751975483 CA6129414 RCV000713025 |
435 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1200013556 CA381481180 |
436 | M>I | No |
ClinGen TOPMed |
|
|
rs1248060906 CA381481191 |
436 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590955174 CA381481155 |
439 | T>A | No |
ClinGen Ensembl |
|
|
CA381481148 rs1212544766 |
439 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381481151 rs1212544766 |
439 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA224090432 rs189411136 |
442 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6129411 rs369266382 |
443 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA224090417 rs200046742 |
444 | N>D | No |
ClinGen Ensembl |
|
|
CA381481088 rs1234270484 |
444 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001289184 CA6129410 rs147422843 |
446 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs931035058 CA224090408 |
446 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA381481074 rs147422843 |
446 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1171496265 CA381481064 |
448 | V>M | No |
ClinGen TOPMed |
|
|
rs1362950272 CA381481047 |
450 | Q>H | No |
ClinGen gnomAD |
|
|
rs766063073 CA6129389 |
451 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6129387 rs750175492 CA381480999 |
452 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760447551 CA6129388 |
452 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129386 rs200364115 |
453 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224089995 rs868828403 |
453 | F>S | No |
ClinGen Ensembl |
|
|
rs1590954146 CA381480944 |
457 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 458 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761627583 CA6129385 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774302802 CA6129384 |
460 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000518523 CA381480863 rs1017538609 |
465 | R>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA6129380 rs771136591 |
465 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224089973 rs1017538609 |
465 | R>W | No |
ClinGen TOPMed |
|
|
CA6129378 rs777976094 |
470 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6129377 rs561053672 |
472 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452514246 CA381480747 |
474 | I>V | No |
ClinGen gnomAD |
|
|
rs755546825 CA6129374 |
475 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs753398112 CA6129373 |
478 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs35463342 CA381480683 |
478 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1486743242 CA381480677 RCV000994669 |
479 | G>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1204626277 CA381480663 |
480 | R>Q | No |
ClinGen gnomAD |
|
|
rs1590953936 CA381480659 |
481 | V>L | No |
ClinGen Ensembl |
|
|
CA6129371 rs755702786 |
482 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199940982 CA6129370 |
484 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA381480620 rs1590953920 |
484 | V>L | No |
ClinGen Ensembl |
|
|
rs767105400 CA6129369 |
485 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs143155918 CA381480596 |
486 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776678939 CA6129364 |
487 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA381480585 rs1334464409 |
487 | V>M | No |
ClinGen gnomAD |
|
|
rs1382186705 CA381480576 |
488 | A>T | No |
ClinGen gnomAD |
|
|
rs1290146094 CA381480566 |
489 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1357311720 CA381480544 |
490 | E>D | No |
ClinGen TOPMed |
|
|
rs771090368 CA6129363 |
492 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1025546117 CA224089818 |
493 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6129359 rs372109002 RCV000917341 |
494 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6129360 rs772197854 |
494 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6129358 rs779487152 |
495 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769277232 CA6129357 |
495 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381480488 rs1465242669 |
496 | Y>S | No |
ClinGen gnomAD |
|
|
CA381480471 rs1358259183 |
498 | D>N | No |
ClinGen gnomAD |
|
|
CA6129353 rs370108116 |
499 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129354 rs370108116 |
499 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283156608 CA381480458 |
500 | K>Q | No |
ClinGen TOPMed |
|
|
CA6129352 RCV001289187 rs780836225 |
501 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381480449 rs780836225 |
501 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756860153 CA6129351 |
501 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381480447 rs756860153 |
501 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381480445 rs751351000 |
502 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6129350 rs751351000 |
502 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381480439 rs1407403807 |
503 | A>T | No |
ClinGen gnomAD |
|
|
rs1454805342 CA381480431 |
504 | A>G | No |
ClinGen TOPMed |
|
|
CA6129347 rs573842493 |
504 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765111648 CA6129346 |
505 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381480428 rs1474518395 |
505 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767775507 CA6129343 |
508 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774837229 CA224089715 |
508 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762188172 CA6129342 |
508 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327959943 CA381480404 |
509 | V>M | No |
ClinGen TOPMed |
|
|
rs1290261816 CA381480398 |
510 | A>T | No |
ClinGen gnomAD |
|
|
rs749704261 CA6129339 |
511 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6129340 rs769185550 |
511 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770212944 CA6129337 |
514 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6129338 rs770212944 |
514 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6129335 rs780629380 |
517 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129336 rs371919862 |
517 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381480340 rs1369594591 |
519 | M>K | No |
ClinGen TOPMed |
|
|
CA6129334 rs756920497 |
519 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6129333 rs746712991 |
521 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381480324 rs1328526523 |
521 | A>V | No |
ClinGen gnomAD |
|
|
rs376773049 COSM930908 CA6129331 |
522 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371042250 CA6129330 |
523 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA224089645 rs374206914 |
523 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
RCV000891088 rs1478933802 CA381480313 |
524 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA381480314 rs1195598714 |
524 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6129328 rs534164257 |
525 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6129326 rs143296501 |
526 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129327 rs750503217 |
526 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1439962784 CA381480292 |
528 | L>F | No |
ClinGen TOPMed |
|
|
rs1590953252 CA381480271 |
531 | L>P | No |
ClinGen Ensembl |
|
|
rs1219624197 CA381480261 |
533 | L>M | No |
ClinGen TOPMed |
|
|
rs1590953225 CA381480235 |
536 | V>G | No |
ClinGen Ensembl |
|
|
CA6129324 rs774677740 |
543 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs764436153 CA6129323 |
544 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1440446030 CA381480182 |
544 | M>T | No |
ClinGen gnomAD |
|
|
CA381480164 rs1414342478 |
546 | W>C | No |
ClinGen gnomAD |
|
|
rs763350071 CA6129322 |
546 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1373880243 CA381480156 |
547 | M>I | No |
ClinGen gnomAD |
|
|
CA381480149 rs1590953107 |
548 | E>G | No |
ClinGen Ensembl |
|
|
rs1178242440 CA381480153 |
548 | E>K | No |
ClinGen gnomAD |
|
|
CA381480132 rs1157975435 |
550 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6129321 rs775719922 |
550 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415177121 CA381480136 |
550 | M>V | No |
ClinGen gnomAD |
|
|
CA6129297 rs771700311 |
552 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1182690308 CA381480109 |
552 | G>S | No |
ClinGen TOPMed |
|
|
rs147290506 CA6129295 |
553 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000593759 CA6129296 rs116099040 |
553 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1379680814 CA381480090 |
555 | Q>H | No |
ClinGen TOPMed |
|
|
CA381480092 rs1249163919 |
555 | Q>R | No |
ClinGen gnomAD |
|
|
rs768299832 CA6129294 |
557 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1487809624 CA381480072 |
558 | D>G | No |
ClinGen gnomAD |
|
|
rs780084962 CA6129292 |
559 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129293 rs749133486 |
559 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381480048 rs1590949698 |
562 | H>P | No |
ClinGen Ensembl |
|
|
rs751682169 CA6129290 |
566 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 568 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224086778 rs1016900948 |
569 | L>P | No |
ClinGen Ensembl |
|
|
rs1590949596 CA381479964 |
575 | L>R | No |
ClinGen Ensembl |
|
|
rs1222400077 CA381479934 |
580 | I>V | No |
ClinGen gnomAD |
|
|
rs1166379815 CA381479928 |
581 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6129285 rs766869082 |
582 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766869082 CA6129284 |
582 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381479913 rs1487154312 |
583 | Q>L | No |
ClinGen Ensembl |
|
|
CA6129283 rs369540678 |
584 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224086701 rs573639670 |
585 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs771614577 CA6129281 |
586 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1590949438 CA381479888 |
587 | V>G | No |
ClinGen Ensembl |
|
|
CA224086697 rs953080801 |
587 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381479885 rs1343172934 |
588 | R>Q | No |
ClinGen gnomAD |
|
|
rs761422530 CA6129280 |
588 | R>W | No |
ClinGen ExAC gnomAD |
|
|
RCV000992842 CA6129276 rs780059779 |
590 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs745846459 CA6129274 |
592 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1565138201 CA381479860 |
592 | A>V | No |
ClinGen Ensembl |
|
|
COSM3723700 COSM3723701 rs533645041 CA6129272 |
596 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA381479840 rs1172470489 |
596 | R>H | No |
ClinGen gnomAD |
|
|
CA6129271 rs748280247 |
597 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1177479442 CA381479817 |
599 | N>I | No |
ClinGen gnomAD |
|
|
rs778943352 CA6129270 |
599 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA224086647 rs943217392 |
602 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA224086378 COSM690421 rs1007920541 |
604 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA224086360 rs907768540 |
606 | P>A | No |
ClinGen TOPMed |
|
|
rs1184987178 CA381479754 |
607 | C>G | No |
ClinGen TOPMed |
|
|
CA381479755 rs1184987178 |
607 | C>R | No |
ClinGen TOPMed |
|
|
rs1590948604 CA381479740 |
608 | D>A | No |
ClinGen Ensembl |
|
|
rs759345817 CA6129240 |
608 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA224086359 rs1051567273 |
609 | P>L | No |
ClinGen gnomAD |
|
|
CA381479699 rs1246085247 |
612 | V>M | No |
ClinGen gnomAD |
|
|
rs747019461 CA6129237 |
613 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129235 rs768742849 |
615 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381479658 rs1207850001 |
615 | R>W | No |
ClinGen gnomAD |
|
|
rs1226993509 CA381479632 |
617 | A>V | No |
ClinGen gnomAD |
|
|
CA6129234 rs749397149 |
618 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1362871909 CA381479620 |
618 | K>N | No |
ClinGen TOPMed |
|
|
rs780195571 CA6129233 |
620 | E>Q | No |
ClinGen ExAC |
|
|
rs770009845 CA6129232 |
621 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381479588 rs1436396949 |
621 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 622 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381479554 rs1331047180 |
624 | E>K | No |
ClinGen gnomAD |
|
|
CA224086328 rs951886690 |
625 | A>S | No |
ClinGen TOPMed |
|
|
rs951886690 CA381479540 |
625 | A>T | No |
ClinGen TOPMed |
|
|
RCV000713030 rs1027470381 CA224086317 |
628 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA381479491 rs544395934 |
629 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6129230 rs544395934 |
629 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381479471 rs1392050891 |
630 | A>V | No |
ClinGen gnomAD |
|
|
CA6129228 rs143795261 |
631 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA224086286 rs1036031873 |
632 | A>T | No |
ClinGen gnomAD |
|
|
rs757932120 CA6129226 |
632 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129223 rs759321471 |
633 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137898701 CA6129224 |
633 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs766236489 CA6129221 |
634 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200763531 CA6129220 |
635 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1035435319 CA224086262 |
635 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6129218 rs201992642 |
636 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773155491 CA6129219 RCV000518053 |
636 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381479417 rs1332002847 |
637 | L>V | No |
ClinGen gnomAD |
|
|
rs762955478 CA6129217 |
638 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769987150 CA6129215 |
639 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6129214 rs553463768 |
641 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381479373 rs1169301071 |
641 | R>W | No |
ClinGen gnomAD |
|
|
CA6129212 rs771282751 |
642 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6129213 rs781376193 |
642 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377936628 CA381479338 |
644 | W>C | No |
ClinGen gnomAD |
|
|
rs778283942 CA6129210 |
645 | R>C | No |
ClinGen ExAC |
|
|
rs536915281 COSM467288 CA6129209 |
645 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6129208 rs752249707 |
646 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs967503550 CA224086218 |
647 | L>F | No |
ClinGen TOPMed |
|
|
CA381479271 RCV000994668 rs1011637037 |
650 | V>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA224086211 rs1011637037 |
650 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381479255 rs1445878460 |
652 | E>K | No |
ClinGen TOPMed |
|
|
rs778615539 CA6129207 |
653 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1221391241 CA381479210 |
655 | A>D | No |
ClinGen gnomAD |
|
|
rs1275935478 CA381479219 |
655 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1346340772 CA381479203 |
656 | W>* | No |
ClinGen gnomAD |
|
|
rs1288042284 CA381479191 |
657 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381479174 rs1308921117 |
659 | E>K | No |
ClinGen gnomAD |
|
|
rs765971149 CA6129204 |
662 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1416043873 CA381479118 |
663 | L>F | No |
ClinGen gnomAD |
|
|
rs1158145815 CA381479102 |
665 | A>T | No |
ClinGen gnomAD |
|
|
CA381479094 rs1255540441 |
665 | A>V | No |
ClinGen TOPMed |
|
|
CA6129200 rs370857216 |
668 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775522542 RCV001289189 CA6129199 |
669 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA224086189 rs775522542 |
669 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199818037 CA381479053 |
669 | T>S | No |
ClinGen TOPMed |
|
|
CA381479046 rs1211619356 |
670 | G>S | No |
ClinGen gnomAD |
|
|
CA381479019 rs1198651621 |
672 | D>V | No |
ClinGen TOPMed |
|
|
rs1331713353 CA381478997 |
675 | G>D | No |
ClinGen gnomAD |
|
|
CA6129196 RCV001289190 rs776861052 |
675 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3687561 CA6129197 COSM3687562 rs776861052 |
675 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381478994 rs1289410384 |
676 | A>T | No |
ClinGen gnomAD |
|
|
CA381478991 rs1227910948 |
676 | A>V | No |
ClinGen gnomAD |
|
|
CA381478986 rs1168808705 |
677 | L>F | No |
ClinGen TOPMed |
|
|
rs866339763 CA224086166 |
678 | R>C | No |
ClinGen gnomAD |
|
|
CA6129194 rs747330285 |
678 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381478961 rs900208502 CA224086143 |
681 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381478938 rs1455603526 |
685 | A>T | No |
ClinGen gnomAD |
|
|
CA381478933 rs1390499444 |
685 | A>V | No |
ClinGen gnomAD |
|
|
rs748705169 CA6129191 |
687 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411263285 CA381478926 |
687 | R>W | No |
ClinGen gnomAD |
|
|
CA381478916 rs1187185361 |
689 | E>K | No |
ClinGen gnomAD |
|
|
CA6129189 rs754490147 |
690 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1261626104 CA381478906 |
690 | M>K | No |
ClinGen gnomAD |
|
|
CA381478904 rs1261626104 |
690 | M>R | No |
ClinGen gnomAD |
|
|
CA381478898 rs1320138944 |
691 | S>C | No |
ClinGen gnomAD |
|
|
CA381478886 rs1228931802 |
693 | R>G | No |
ClinGen gnomAD |
|
|
rs1364496263 CA381478884 |
693 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1228931802 CA381478885 COSM1356314 |
693 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA381478877 rs1295524367 |
694 | L>R | No |
ClinGen gnomAD |
|
|
CA381478872 rs1432735002 |
695 | G>E | No |
ClinGen gnomAD |
|
|
rs1275987122 CA381478857 |
697 | L>P | No |
ClinGen TOPMed |
|
|
rs779692722 CA6129187 |
698 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381478837 rs1435565940 |
699 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA381478820 rs1166527580 |
700 | T>I | No |
ClinGen gnomAD |
|
|
rs1424939829 CA381478811 |
702 | E>K | No |
ClinGen gnomAD |
|
|
rs1166191274 CA381478779 |
704 | G>D | No |
ClinGen gnomAD |
|
|
rs1209797249 CA381478771 |
705 | Q>* | No |
ClinGen TOPMed |
|
|
CA381478754 rs1451810695 |
706 | Q>R | No |
ClinGen gnomAD |
|
|
CA381478726 rs1190965477 |
709 | A>T | No |
ClinGen gnomAD |
|
|
rs1248851231 CA381478713 |
710 | E>K | No |
ClinGen gnomAD |
|
|
rs1590947247 TCGA novel CA381478685 |
712 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA224086105 rs1036146396 |
712 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1272484661 CA381478661 |
714 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA381478622 rs1230787910 |
717 | Q>H | No |
ClinGen gnomAD |
|
|
rs767345391 CA6129184 |
718 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA381478601 rs1296263986 |
719 | S>F | No |
ClinGen gnomAD |
|
|
RCV000485829 CA6129183 rs757150924 |
721 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA381478569 rs1295095279 |
722 | A>V | No |
ClinGen gnomAD |
|
|
CA381478559 rs1405120191 |
723 | A>V | No |
ClinGen gnomAD |
|
|
rs1369567684 CA381478555 |
724 | E>K | No |
ClinGen gnomAD |
|
|
rs1431165807 CA381478521 |
726 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1305638152 CA381478527 |
726 | Q>R | No |
ClinGen gnomAD |
|
|
CA381478509 rs1374118199 |
727 | A>V | No |
ClinGen gnomAD |
|
|
CA381478503 rs1431969648 |
728 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381478476 rs1427628646 |
730 | E>Q | No |
ClinGen gnomAD |
|
|
rs764038568 CA6129181 |
731 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224086067 rs887515522 |
731 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381478460 rs1207348240 |
732 | L>I | No |
ClinGen gnomAD |
|
|
CA6129180 rs201621532 |
733 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1590947039 CA381478444 |
733 | E>V | No |
ClinGen Ensembl |
|
|
CA224086042 rs959738785 |
736 | A>G | No |
ClinGen TOPMed |
|
|
CA6129178 rs766618779 |
737 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381478394 rs1310384998 |
738 | E>K | No |
ClinGen gnomAD |
|
|
rs376230007 CA6129177 |
739 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224086031 rs372938259 |
739 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6129176 rs372938259 |
739 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772526047 CA6129175 |
741 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6129173 rs568673379 |
742 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748547587 CA6129174 |
742 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381478337 rs769293710 |
744 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs769293710 CA6129172 |
744 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1464923258 CA381478312 |
746 | A>T | No |
ClinGen gnomAD |
|
|
CA6129168 rs745543088 |
747 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3980600 rs745543088 CA6129169 COSM3980599 |
747 | A>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6129170 rs745543088 |
747 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262705615 CA381478297 |
748 | S>G | No |
ClinGen TOPMed |
|
|
rs1184559711 CA381478261 |
750 | Y>* | No |
ClinGen gnomAD |
|
|
rs1188527089 CA679414164 |
750 | Y>* | No |
ClinGen TOPMed |
|
|
CA381478238 rs1419923181 |
752 | F>S | No |
ClinGen gnomAD |
|
|
CA6129166 rs756995292 |
754 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1264994246 CA381478206 |
755 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1204035693 CA381478183 |
756 | A>V | No |
ClinGen gnomAD |
|
|
CA224085926 rs894025675 |
758 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs894025675 RCV000992845 |
758 | D>Y | No |
ClinVar dbSNP |
|
|
rs1240668550 CA381478142 |
759 | M>I | No |
ClinGen gnomAD |
|
|
rs1426283699 CA381478150 |
759 | M>L | No |
ClinGen TOPMed |
|
|
rs1565136199 CA381478145 |
759 | M>T | No |
ClinGen Ensembl |
|
|
CA381478109 rs1311382785 |
762 | W>R | No |
ClinGen gnomAD |
|
|
CA381478087 rs1381939885 |
763 | L>S | No |
ClinGen gnomAD |
|
|
rs374610687 CA6129158 |
766 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381478049 rs1161847185 |
766 | A>V | No |
ClinGen gnomAD |
|
|
rs1425687730 COSM1289619 CA381478032 |
768 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6129156 rs774925035 |
768 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs112650375 CA224085906 |
770 | V>A | No |
ClinGen Ensembl |
|
|
CA6129155 rs769196723 CA381478019 |
770 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs769196723 CA381478020 |
770 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA224085901 rs1018333909 |
773 | P>S | No |
ClinGen Ensembl |
|
|
rs201252554 CA6129152 |
774 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_035458 | 774 | E>K | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA6129151 rs745402988 |
775 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1360921849 CA381477981 |
776 | G>E | No |
ClinGen gnomAD |
|
|
rs780761281 CA6129150 |
776 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746800875 CA6129148 |
777 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777602838 CA224085879 |
778 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385667803 CA381477969 |
778 | D>G | No |
ClinGen TOPMed |
|
|
rs1364286498 CA381477972 |
778 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1363654834 CA381477966 |
779 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM544744 rs755618733 CA224085867 |
782 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6129143 rs756091891 |
783 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381477936 rs1459669556 |
783 | Q>R | No |
ClinGen gnomAD |
|
|
CA381477916 rs1168043262 |
786 | A>V | No |
ClinGen gnomAD |
|
|
CA6129142 rs750536532 |
790 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA381477890 rs750536532 |
790 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA381477891 rs1246175977 |
790 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6129141 rs533325556 |
791 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6129139 rs267603133 |
792 | L>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000517244 rs1387465998 CA381477861 |
795 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs763402581 CA6129137 COSM3710235 COSM930905 |
797 | R>Q | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA381477841 rs1340645826 |
798 | S>N | No |
ClinGen gnomAD |
|
|
CA6129135 COSM930904 rs144746828 |
800 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775807933 CA6129136 |
800 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129134 rs758977500 |
801 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6129133 rs776189963 |
803 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366502438 CA381477808 |
804 | D>N | No |
ClinGen gnomAD |
|
|
rs777593608 CA6129131 |
805 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129130 rs777593608 |
805 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381477789 rs1169535430 |
807 | R>K | No |
ClinGen gnomAD |
|
|
CA381477772 rs1376794806 |
809 | Q>R | No |
ClinGen gnomAD |
|
|
CA6129128 rs747990252 |
810 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269231923 CA381477752 |
812 | A>V | No |
ClinGen gnomAD |
|
|
rs1408176619 CA381477748 |
813 | L>P | No |
ClinGen gnomAD |
|
|
CA6129127 rs778650900 |
814 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203787206 CA381477744 |
814 | P>S | No |
ClinGen gnomAD |
|
|
RCV000906412 rs750520015 CA6129125 |
815 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750520015 CA381477738 |
815 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755012761 CA6129126 |
815 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM544745 CA381477734 rs1565135549 |
816 | T>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1346363373 CA381477723 |
818 | S>N | No |
ClinGen gnomAD |
|
|
CA381477720 rs1288003434 |
818 | S>R | No |
ClinGen gnomAD |
|
|
rs141021167 CA6129120 |
819 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753107176 CA6129119 |
819 | R>H | Variant assessed as Somatic; 0.0001148 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs548188891 CA6129117 |
820 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760200143 CA381477707 |
821 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6129114 rs760200143 |
821 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6129115 rs765913538 |
821 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6129113 RCV000713033 rs771402351 |
822 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs771762584 CA6129112 |
823 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381477691 rs1234056538 |
824 | Q>* | No |
ClinGen gnomAD |
|
|
rs913464511 CA224085715 COSM1509604 |
824 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA381477685 rs4930388 |
825 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774262290 CA6129110 |
825 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA381477686 rs4930388 |
825 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381477678 rs1205934871 |
826 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA381477679 rs1277182102 |
826 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA224085709 rs201682843 |
828 | P>S | No |
ClinGen gnomAD |
|
|
CA381477661 rs200810749 |
829 | T>I | No |
ClinGen TOPMed |
|
|
CA224085707 rs200810749 |
829 | T>S | No |
ClinGen TOPMed |
|
|
CA224085705 rs199861450 |
830 | L>P | No |
ClinGen Ensembl |
|
|
CA381477655 rs1375801185 |
831 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1375801185 CA381477654 |
831 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000713034 rs749281906 CA6129108 |
832 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs551052303 CA6129109 |
832 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1339785301 CA381477640 |
833 | H>Y | No |
ClinGen gnomAD |
|
|
CA224085703 rs201922121 |
834 | Y>D | No |
ClinGen Ensembl |
|
|
CA6129105 rs747096113 |
835 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001289192 VAR_048631 RCV000882759 CA6129106 rs36054877 |
835 | E>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA381477621 rs1409780759 |
836 | E>* | No |
ClinGen gnomAD |
|
|
rs1177251322 CA381477618 |
836 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1177251322 CA381477616 |
836 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752988228 CA381477592 |
840 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381477593 rs752988228 |
840 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752988228 CA6129102 |
840 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129103 rs758710925 |
840 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765680997 CA6129101 |
841 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA381477582 rs1318947067 |
842 | G>A | No |
ClinGen gnomAD |
|
|
CA224085685 rs377045177 |
843 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1317282065 CA381477572 |
844 | R>* | No |
ClinGen gnomAD |
|
|
rs34048431 CA224085682 |
845 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381477562 rs1428439827 RCV000992846 |
846 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6129098 rs766885350 |
846 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346564219 CA381477556 |
847 | A>D | No |
ClinGen gnomAD |
|
|
CA381477554 rs1346564219 |
847 | A>V | No |
ClinGen gnomAD |
|
|
rs767066674 CA6129096 |
849 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA381477542 rs760112044 |
849 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129097 rs760112044 |
849 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761578326 CA6129094 |
850 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA381477536 rs761578326 |
850 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206563480 CA381477529 |
852 | L>M | No |
ClinGen TOPMed |
|
|
CA381477521 rs773989387 |
853 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129093 rs773989387 |
853 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6129090 rs775507751 |
854 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769855444 CA6129089 |
855 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA381477502 rs1243089949 |
856 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1293960841 CA381477483 |
859 | S>N | No |
ClinGen gnomAD |
|
|
rs758525869 CA6129086 |
860 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6129085 rs370005542 |
861 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212766211 CA381477467 |
861 | A>V | No |
ClinGen gnomAD |
|
|
rs1435222603 CA381477463 |
862 | G>E | No |
ClinGen gnomAD |
|
|
rs1289240932 CA381477466 |
862 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381477438 rs1304420688 |
866 | L>F | No |
ClinGen gnomAD |
|
|
rs1001318230 CA224085640 |
867 | W>* | No |
ClinGen Ensembl |
|
|
CA381477424 rs1424804035 RCV000992847 |
868 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA381477420 rs1390072503 |
869 | E>K | No |
ClinGen gnomAD |
|
|
rs1168907844 CA381477412 |
870 | E>K | No |
ClinGen gnomAD |
|
|
rs755278806 CA6129083 |
871 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1190987883 CA381477378 |
874 | W>* | No |
ClinGen gnomAD |
|
|
rs906936058 CA224085636 RCV000595719 |
875 | L>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1045445837 CA224085627 |
876 | N>H | No |
ClinGen TOPMed |
|
|
CA381477358 rs1482746869 |
877 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6129079 rs371683050 |
879 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1282737885 CA381477343 |
880 | L>V | No |
ClinGen gnomAD |
|
|
rs767097062 CA6129078 |
882 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs751179623 CA224085589 |
883 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs751179623 CA6129076 |
883 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA381477304 CA6129075 rs763847553 |
886 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759565247 CA6129071 |
890 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381477263 rs1590945049 |
893 | R>G | No |
ClinGen Ensembl |
|
|
CA381477242 rs1290816201 |
893 | R>S | No |
ClinGen gnomAD |
|
|
CA6129038 rs777471821 |
895 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752356192 CA6129036 |
900 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1183950504 CA381477171 |
901 | M>V | No |
ClinGen gnomAD |
|
|
CA6129035 rs542225342 |
905 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1206467913 CA381477098 |
907 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381477077 rs754744110 |
909 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6129034 rs754744110 |
909 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6129032 rs766328275 |
910 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381477066 rs766328275 COSM930902 |
910 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001289194 CA6129031 rs532746761 |
910 | A>V | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6129029 rs370499009 |
911 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA224083843 rs540571554 |
913 | D>G | No |
ClinGen Ensembl |
|
|
rs769909185 CA6129026 |
915 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1426681442 CA381477000 |
915 | A>V | No |
ClinGen gnomAD |
|
|
CA6129024 rs140996610 |
916 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6129023 rs372737003 |
917 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747556436 CA6129022 |
922 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA381476901 rs1428729330 |
923 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1428729330 CA381476899 |
923 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6129021 rs778457729 |
923 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381476903 rs778457729 |
923 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1295894623 CA381476894 |
924 | P>A | No |
ClinGen TOPMed |
|
|
CA6129019 rs147327184 |
924 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381476885 rs1354387191 |
925 | G>S | No |
ClinGen TOPMed |
|
|
rs766125112 CA381476860 |
927 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766125112 CA6129015 RCV000658604 |
927 | D>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs868342111 CA224083798 |
928 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6129013 rs750308908 |
928 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 928 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381476835 rs1452131831 |
929 | I>V | No |
ClinGen TOPMed |
|
|
rs1245971246 CA381476815 |
930 | V>A | No |
ClinGen TOPMed |
|
|
rs1345097576 COSM323606 CA381476806 |
931 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA381476799 rs1281663329 |
932 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 932 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381476751 rs1374271360 |
935 | Q>R | No |
ClinGen TOPMed |
|
|
rs768067211 CA224083787 |
937 | N>S | No |
ClinGen gnomAD |
|
|
CA381476583 rs1470751821 |
943 | F>L | No |
ClinGen gnomAD |
|
|
rs781108283 CA6128995 |
944 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750219209 CA6128996 |
944 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201807685 CA6128994 |
945 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128991 rs759694261 |
947 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs895633414 CA224083647 |
949 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381476500 rs1283873952 |
951 | K>N | No |
ClinGen gnomAD |
|
|
rs1590938042 CA381476465 |
955 | T>P | No |
ClinGen Ensembl |
|
|
rs766723209 CA6128989 |
959 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA381476421 rs1349737741 |
959 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 960 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240701395 CA381476357 |
964 | H>L | No |
ClinGen gnomAD |
|
|
CA6128986 rs772683753 |
964 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000520222 rs1554982890 |
966 | E>missing | No |
ClinVar dbSNP |
|
|
rs762265549 CA6128985 |
967 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs762265549 CA381476318 |
967 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6128983 rs767999498 |
968 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128984 rs774952381 |
968 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM226686 rs779502360 CA6128981 |
969 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381476282 rs1444544790 |
971 | Q>R | No |
ClinGen gnomAD |
|
|
CA6128979 rs745652945 |
972 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381476260 rs1333541281 |
974 | M>K | No |
ClinGen gnomAD |
|
|
rs781016781 CA6128978 |
975 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA381476242 rs1202334757 |
976 | E>D | No |
ClinGen TOPMed |
|
|
CA381476232 rs1590937828 |
978 | T>A | No |
ClinGen Ensembl |
|
|
CA224083623 rs373499749 |
978 | T>I | No |
ClinGen ESP TOPMed |
|
|
RCV000516761 rs777790247 CA6128975 RCV002525086 |
982 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381476203 rs1399777162 |
982 | E>V | No |
ClinGen Ensembl |
|
|
RCV001289197 rs1941221838 |
984 | T>N | No |
ClinVar dbSNP |
|
| TCGA novel | 985 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565130150 CA381476177 |
986 | G>D | No |
ClinGen Ensembl |
|
|
CA6128972 rs766704893 |
988 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6128973 rs766704893 |
988 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM930897 rs369931847 CA6128970 |
990 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1248124950 CA381476135 |
993 | G>E | No |
ClinGen gnomAD |
|
|
rs1379567333 CA381476133 |
994 | V>M | No |
ClinGen gnomAD |
|
|
rs774660690 CA6128967 |
995 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs775043786 CA6128964 |
999 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381476084 rs1565130049 |
1001 | L>V | No |
ClinGen Ensembl |
|
|
CA381476071 rs1363202837 |
1002 | A>V | No |
ClinGen gnomAD |
|
|
CA6128960 rs770666144 |
1003 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746835288 CA6128959 |
1004 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1264230866 CA381476038 |
1005 | E>G | No |
ClinGen gnomAD |
|
|
rs376827915 CA6128957 |
1006 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749305403 CA6128956 |
1007 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA224083582 rs954882510 |
1008 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381476004 rs1224558242 |
1009 | E>K | No |
ClinGen gnomAD |
|
|
rs1385628915 CA381475989 |
1010 | A>T | No |
ClinGen gnomAD |
|
|
CA381475983 rs1565129926 |
1010 | A>V | No |
ClinGen Ensembl |
|
|
rs756291451 CA6128954 |
1012 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128952 rs148016656 |
1013 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224083580 rs1005600223 |
1014 | R>P | No |
ClinGen TOPMed |
|
|
rs1005600223 CA381475947 |
1014 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1255292494 CA381475941 |
1015 | V>M | No |
ClinGen TOPMed |
|
|
CA6128950 rs752024042 |
1016 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6128948 rs763568121 |
1017 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430337750 CA381475905 |
1018 | L>Q | No |
ClinGen TOPMed |
|
|
CA381475893 rs1412041673 |
1019 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM234308 CA381475885 rs1198912592 |
1020 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1198912592 CA381475887 |
1020 | R>G | No |
ClinGen gnomAD |
|
|
CA6128944 rs758312194 RCV000518265 RCV002527535 |
1020 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381475843 rs1191900613 |
1024 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381475845 rs1191900613 |
1024 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1202392572 CA381475807 |
1028 | G>D | No |
ClinGen gnomAD |
|
|
CA6128941 rs373419567 |
1028 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771872804 CA6128940 |
1030 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA381475784 rs771872804 |
1030 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs138735919 CA381475780 |
1031 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128938 rs138735919 |
1031 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs506028 CA224083541 |
1034 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs506028 CA224083532 |
1034 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381475745 rs1296919524 |
1035 | A>T | No |
ClinGen gnomAD |
|
|
rs781558460 CA6128936 |
1036 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs201248714 CA6128935 |
1037 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549918589 CA381475712 |
1038 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758723701 CA6128932 |
1039 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128930 rs765749156 |
1041 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1238555845 CA381475667 |
1045 | T>I | No |
ClinGen gnomAD |
|
|
rs199703911 CA6128927 |
1046 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381475648 rs1257435119 |
1047 | W>C | No |
ClinGen gnomAD |
|
|
CA381475641 rs1233565461 |
1048 | E>G | No |
ClinGen gnomAD |
|
|
rs1315764399 CA381475632 |
1049 | D>Y | No |
ClinGen gnomAD |
|
|
rs760415072 CA6128926 |
1053 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA381475592 rs1378364725 |
1053 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6128925 rs772770968 |
1054 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128922 rs150359739 |
1055 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138022806 CA6128923 |
1055 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140481704 CA6128921 |
1056 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128920 COSM1241781 rs374715276 |
1056 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs140481704 CA381475570 |
1056 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781377530 COSM930896 CA6128919 |
1057 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771030742 CA6128918 |
1057 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381475546 rs1380896317 |
1059 | E>K | No |
ClinGen gnomAD |
|
|
CA6128917 rs747218157 |
1060 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381475522 rs1325286317 |
1061 | L>R | No |
ClinGen gnomAD |
|
|
CA224083460 rs151280581 |
1064 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755537860 CA6128912 |
1065 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1227492 CA6128910 rs527626787 |
1066 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1208354736 CA381475485 |
1066 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA381475457 rs1342575947 |
1069 | D>N | No |
ClinGen gnomAD |
|
|
rs144574610 CA6128908 |
1070 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767079179 CA6128907 |
1071 | L>M | No |
ClinGen ExAC |
|
|
CA6128906 rs761693467 |
1072 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM429681 CA6128905 rs147677439 |
1072 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128904 rs768688583 |
1076 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1162803458 CA381475354 |
1079 | A>P | No |
ClinGen gnomAD |
|
|
CA6128902 rs756311388 |
1080 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427530674 CA381475313 |
1083 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367949397 CA6128901 RCV000994667 |
1083 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367949397 CA381475310 |
1083 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427530674 CA381475316 |
1083 | R>S | No |
ClinGen gnomAD |
|
|
CA381475304 rs1259468529 |
1084 | T>A | No |
ClinGen TOPMed |
|
|
rs1565129127 CA381475265 |
1088 | V>E | No |
ClinGen Ensembl |
|
|
CA381475260 rs1488301921 |
1089 | A>T | No |
ClinGen gnomAD |
|
|
rs1220817754 CA381475225 |
1093 | G>E | No |
ClinGen gnomAD |
|
|
RCV001289201 CA6128897 rs748499520 |
1094 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA381475211 rs1280292729 |
1096 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA224083404 rs866200870 |
1096 | T>I | No |
ClinGen Ensembl |
|
|
CA224083401 rs867458193 |
1097 | L>P | No |
ClinGen Ensembl |
|
|
rs1344903855 CA381475200 |
1098 | P>S | No |
ClinGen gnomAD |
|
|
CA6128895 rs375182533 |
1100 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461258744 CA381475156 |
1105 | A>S | No |
ClinGen gnomAD |
|
|
CA381475134 rs1477945668 |
1108 | A>S | No |
ClinGen gnomAD |
|
|
CA6128891 rs767182832 |
1108 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196724776 CA381475128 |
1109 | A>V | No |
ClinGen gnomAD |
|
|
RCV000713040 rs763945497 CA6128889 |
1111 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6128888 rs763945497 |
1111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128890 rs761603492 |
1111 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1219412799 CA381475102 |
1112 | G>E | No |
ClinGen gnomAD |
|
|
rs1349095738 CA381475109 |
1112 | G>R | No |
ClinGen TOPMed |
|
|
CA224083356 rs889150509 |
1113 | E>K | No |
ClinGen TOPMed |
|
|
CA381475091 rs1280488139 |
1113 | E>V | No |
ClinGen TOPMed |
|
|
CA6128887 rs762866906 |
1114 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1281444967 CA381475050 |
1116 | R>W | No |
ClinGen gnomAD |
|
|
CA381475037 rs1331782369 |
1117 | A>D | No |
ClinGen gnomAD |
|
|
rs1213043994 CA381475002 |
1119 | S>N | No |
ClinGen TOPMed |
|
|
rs760806416 RCV000713041 CA6128884 |
1119 | S>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381474998 rs1397765824 |
1119 | S>R | No |
ClinGen gnomAD |
|
|
rs368352289 CA6128883 |
1120 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128881 rs147782745 |
1123 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128882 rs772260509 |
1123 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128880 rs774577923 |
1125 | R>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000658603 CA6128879 rs375601930 |
1125 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6128878 rs749617566 |
1126 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1436588185 CA381474901 |
1127 | L>R | No |
ClinGen gnomAD |
|
|
CA6128877 rs780605197 |
1129 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128876 rs756633909 |
1130 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1590936090 CA381474852 |
1131 | V>G | No |
ClinGen Ensembl |
|
|
rs1261450187 CA381474843 |
1132 | T>I | No |
ClinGen gnomAD |
|
|
rs200427839 CA6128875 |
1133 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6128873 rs756855460 |
1133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200427839 CA6128874 |
1133 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6128872 rs751211496 |
1135 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1139 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128870 rs758147971 |
1140 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6128869 rs752501891 |
1141 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA381474660 rs1409874116 |
1146 | R>* | No |
ClinGen TOPMed |
|
|
CA381474658 rs1382756976 |
1146 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1179848554 CA381474652 |
1147 | L>M | No |
ClinGen gnomAD |
|
|
rs1338081362 CA381474647 |
1147 | L>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 1148 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241696455 CA381474625 |
1149 | A>T | Variant assessed as Somatic; 5.739e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381474530 rs1283630103 |
1156 | E>K | No |
ClinGen gnomAD |
|
|
CA6128860 rs775764811 |
1158 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA224083280 rs868108981 |
1158 | G>V | No |
ClinGen Ensembl |
|
|
rs1195128790 CA381474487 |
1159 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6128859 rs370657925 |
1159 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6128858 rs746317062 |
1161 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1381701921 CA381474439 |
1162 | E>K | No |
ClinGen gnomAD |
|
|
CA224083277 rs1055086580 |
1164 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs781771093 CA6128857 |
1164 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA224083269 rs377492365 |
1165 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381474361 rs1340763076 |
1167 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201295903 CA6128856 |
1167 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201295903 CA6128855 |
1167 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1168 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381474341 rs1457957079 |
1169 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1417370226 CA381474317 |
1170 | Q>L | No |
ClinGen gnomAD |
|
|
rs752516644 CA381474295 |
1172 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1172 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128852 rs752516644 |
1172 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372841640 CA6128850 |
1173 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763122364 CA6128844 |
1179 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000517760 CA6128845 rs764276089 |
1179 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1358726627 CA381474183 |
1180 | D>H | No |
ClinGen gnomAD |
|
|
CA6128841 rs376699020 |
1181 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381474151 rs1229873905 |
1182 | R>C | No |
ClinGen gnomAD |
|
|
CA6128840 rs777214144 |
1182 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381474145 rs777214144 |
1182 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381474147 rs777214144 |
1182 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1182 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771636639 CA6128839 |
1186 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381474082 rs369739429 |
1187 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128837 COSM930895 rs369739429 |
1187 | V>M | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1404861706 CA381474055 |
1189 | S>G | No |
ClinGen gnomAD |
|
|
rs1348694743 CA381474039 |
1190 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1194270615 CA381474033 |
1190 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1251921773 CA381472797 |
1192 | E>K | No |
ClinGen TOPMed |
|
|
rs1427367152 CA381472742 |
1195 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381472739 rs1427367152 |
1195 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761305091 CA6128817 |
1198 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128816 rs773888695 |
1199 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196577719 CA381472616 |
1203 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1565127000 CA381472603 |
1203 | T>I | No |
ClinGen Ensembl |
|
|
rs771435460 CA6128815 |
1204 | L>F | No |
ClinGen ExAC |
|
|
rs1590933641 CA381472572 |
1205 | Q>R | No |
ClinGen Ensembl |
|
|
rs747697192 CA6128814 |
1206 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778424143 CA6128813 |
1209 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1258258653 CA381472508 |
1209 | A>P | No |
ClinGen gnomAD |
|
|
rs1258258653 CA381472509 |
1209 | A>T | No |
ClinGen gnomAD |
|
|
rs1302772053 CA381472485 |
1211 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1213 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1214 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128810 rs779861114 |
1217 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA381472359 rs1590933563 |
1218 | M>R | No |
ClinGen Ensembl |
|
|
rs376818752 CA6128809 |
1218 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750309042 CA6128808 |
1219 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381472334 rs1590933549 |
1220 | T>P | No |
ClinGen Ensembl |
|
|
CA6128806 rs758345732 |
1221 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1222 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000992850 rs765368981 CA6128804 |
1223 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA224082885 rs967441746 |
1227 | R>Q | No |
ClinGen Ensembl |
|
|
rs766811381 CA6128801 COSM116215 |
1227 | R>W | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA224082875 rs1009515452 |
1229 | H>Y | No |
ClinGen Ensembl |
|
|
rs773523389 CA6128799 |
1230 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA381472136 rs1199462329 |
1231 | L>P | No |
ClinGen gnomAD |
|
|
CA381472126 rs1590933391 |
1232 | L>V | No |
ClinGen Ensembl |
|
|
CA224082866 rs867882104 |
1233 | E>G | No |
ClinGen gnomAD |
|
|
CA6128797 rs201646010 |
1236 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372553453 CA6128796 RCV000713045 |
1236 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1590933338 CA381472011 |
1239 | V>G | No |
ClinGen Ensembl |
|
|
CA224082860 rs1051562696 |
1240 | S>F | No |
ClinGen gnomAD |
|
|
rs376594612 RCV000994665 CA6128794 |
1240 | S>T | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs1259028727 CA381471977 |
1242 | G>S | No |
ClinGen TOPMed |
|
|
RCV000713046 CA381471942 rs1565126661 |
1244 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6128792 rs769518812 |
1244 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6128790 rs780989119 |
1245 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA224082829 rs138526888 |
1246 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128788 rs138526888 |
1246 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128786 rs755140928 |
1247 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368137291 CA6128785 |
1248 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766723349 CA381471870 |
1250 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000992852 rs145948524 CA6128783 |
1250 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1421669462 CA381471852 |
1251 | E>G | No |
ClinGen gnomAD |
|
|
CA6128781 rs767888847 |
1254 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6128782 rs750856225 |
1254 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381471824 rs1487650023 |
1255 | S>A | No |
ClinGen gnomAD |
|
|
rs764586730 CA6128759 |
1260 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6128760 rs752044360 |
1260 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371145706 CA6128758 |
1261 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1262 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs786205617 RCV000171463 |
1264 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1219372749 CA381471746 |
1264 | Q>R | No |
ClinGen gnomAD |
|
|
rs367573336 CA6128756 |
1266 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1172410468 CA381471700 |
1271 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs181498455 CA224082625 |
1272 | G>C | No |
ClinGen 1000Genomes |
|
|
rs200709631 CA6128750 |
1273 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128749 COSM401237 rs557577438 |
1273 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534938954 CA6128747 RCV001287922 |
1275 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381471670 rs1198469695 |
1276 | D>E | No |
ClinGen gnomAD |
|
|
CA381471677 rs1268477916 |
1276 | D>N | No |
ClinGen gnomAD |
|
|
CA6128746 rs746049954 RCV001092902 |
1277 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6128744 rs139101848 |
1278 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3782673 rs373743022 COSM3782672 CA6128745 |
1278 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751933324 CA6128743 |
1279 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6128742 rs778241858 RCV000516979 RCV002527536 |
1282 | H>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1303831105 CA381471612 |
1285 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381471597 rs1222636499 |
1287 | C>Y | No |
ClinGen TOPMed |
|
|
rs764690665 CA381471585 |
1288 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381471561 rs1085307915 RCV000489542 |
1290 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1278018995 CA381471552 |
1292 | L>I | No |
ClinGen TOPMed |
|
|
rs1449778004 CA381471530 RCV001287923 |
1295 | D>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 1295 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1299 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160504642 CA381471464 |
1304 | V>M | No |
ClinGen gnomAD |
|
|
rs1165162584 COSM3791839 COSM3791840 CA381471435 |
1308 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1423004633 CA381471426 |
1309 | A>S | No |
ClinGen gnomAD |
|
|
RCV000493615 CA6128705 rs748517894 |
1313 | H>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000994664 rs1590931758 |
1313 | H>missing | No |
ClinVar dbSNP |
|
|
CA6128704 rs779473079 |
1317 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6128703 rs755485788 |
1319 | H>Q | No |
ClinGen ExAC |
|
| TCGA novel | 1321 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128700 rs755707367 |
1323 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750035387 CA6128699 |
1325 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757110552 CA6128697 |
1331 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381471263 rs1446537948 |
1332 | W>C | No |
ClinGen TOPMed |
|
|
rs751456503 CA6128696 |
1332 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs764073577 CA6128695 |
1333 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6128693 rs775531683 |
1334 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA224082399 rs989982134 |
1336 | V>G | No |
ClinGen Ensembl |
|
|
rs766325140 CA6128692 |
1336 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381471235 rs1590931595 |
1337 | D>G | No |
ClinGen Ensembl |
|
|
CA224082397 rs562339422 |
1337 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
RCV002527537 rs149992317 CA6128678 RCV000517915 |
1341 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6128677 rs777394927 |
1343 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777394927 CA381471183 |
1343 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1423031098 CA381471174 |
1344 | T>I | No |
ClinGen gnomAD |
|
|
CA6128676 rs758239560 |
1345 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA381471147 rs1176383560 |
1348 | P>L | No |
ClinGen gnomAD |
|
|
CA6128674 rs140585577 |
1349 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381471141 rs1251353152 |
1349 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381471143 rs140585577 |
1349 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224080248 rs750561783 |
1352 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224080244 rs750561783 |
1352 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750561783 CA6128672 |
1352 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128670 rs761982189 |
1353 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs200707472 CA6128669 |
1355 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381471096 rs1449270869 |
1357 | K>R | No |
ClinGen gnomAD |
|
|
CA381471079 rs1445868692 |
1360 | D>H | No |
ClinGen gnomAD |
|
|
CA6128666 rs775852855 |
1362 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381471065 rs1308364682 |
1362 | H>Y | No |
ClinGen TOPMed |
|
|
rs1435332690 CA381471057 |
1363 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372626707 CA6128664 |
1364 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA381471051 rs1420480964 |
1364 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780892284 CA6128663 |
1365 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6128661 rs746597130 |
1367 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1369 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113701722 CA6128660 |
1370 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs113701722 CA381471012 |
1370 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1241681811 CA381471009 |
1370 | T>S | No |
ClinGen gnomAD |
|
|
CA381471007 rs1590928344 |
1371 | T>P | No |
ClinGen Ensembl |
|
|
CA381471000 rs1590928334 |
1372 | T>P | No |
ClinGen Ensembl |
|
|
rs1394527439 CA381470993 |
1373 | Q>* | No |
ClinGen gnomAD |
|
|
CA381470972 rs1415291765 |
1376 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1376 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381470967 rs753802658 |
1377 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6128655 rs753802658 |
1377 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM930887 rs767535278 CA6128654 |
1377 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs767535278 CA381470965 |
1377 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA381470929 rs1163559830 |
1382 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381470925 rs1590928229 |
1383 | N>T | No |
ClinGen Ensembl |
|
|
rs577298242 CA6128652 |
1384 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373709672 CA6128651 |
1389 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381470865 rs1488235039 |
1392 | C>Y | No |
ClinGen gnomAD |
|
|
rs775970942 CA6128649 |
1394 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242880792 CA381470837 |
1396 | E>D | No |
ClinGen gnomAD |
|
|
rs1265287818 CA381470839 |
1396 | E>G | No |
ClinGen gnomAD |
|
|
rs765806905 CA6128648 |
1396 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs146311249 CA6128647 |
1397 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293962188 CA381470820 |
1398 | W>* | No |
ClinGen gnomAD |
|
|
CA381470804 rs1398532655 |
1401 | S>R | No |
ClinGen TOPMed |
|
|
rs1298048061 CA381470795 |
1402 | L>P | No |
ClinGen TOPMed |
|
|
CA6128645 rs770508372 |
1408 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6128643 rs772740149 |
1409 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA224080211 rs904282569 |
1409 | D>N | No |
ClinGen Ensembl |
|
|
CA381470729 rs1292794394 |
1412 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565123208 CA381470726 |
1412 | G>V | No |
ClinGen Ensembl |
|
|
CA381470714 rs1590928046 |
1414 | D>A | No |
ClinGen Ensembl |
|
|
CA381470707 rs1456030643 |
1415 | L>F | No |
ClinGen gnomAD |
|
|
rs777965059 CA224080206 |
1418 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6128640 rs778722219 |
1419 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA224080205 rs1052506648 |
1421 | L>M | No |
ClinGen TOPMed |
|
|
rs1195942487 CA381470660 |
1423 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 1426 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381470539 rs1333674155 |
1427 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6128618 rs769357234 |
1432 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391427141 CA381470477 |
1433 | A>G | No |
ClinGen gnomAD |
|
|
CA381470473 rs1172253226 |
1434 | V>M | No |
ClinGen gnomAD |
|
|
CA6128617 rs779953152 |
1436 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747028145 CA6128615 |
1439 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs756124428 CA6128616 |
1439 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6128614 rs777867648 |
1441 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs370524207 CA6128612 |
1442 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128613 rs758431914 |
1442 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486636051 CA381470371 |
1444 | A>V | No |
ClinGen gnomAD |
|
|
rs1280757276 CA381470365 |
1445 | Q>E | No |
ClinGen gnomAD |
|
|
CA224079765 rs471334 |
1446 | A>D | No |
ClinGen Ensembl |
|
|
rs471334 CA224079763 |
1446 | A>G | No |
ClinGen Ensembl |
|
|
CA224079762 rs471334 |
1446 | A>V | No |
ClinGen Ensembl |
|
|
CA6128609 rs754316304 |
1447 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766777554 CA6128608 |
1448 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1339352009 CA381470325 |
1449 | L>P | No |
ClinGen gnomAD |
|
|
CA381470307 rs1376645366 |
1451 | Q>R | No |
ClinGen gnomAD |
|
|
CA6128607 rs761287825 |
1454 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1410623686 CA381470264 |
1455 | G>C | No |
ClinGen gnomAD |
|
|
rs750926553 CA6128606 |
1456 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1190218381 CA381470225 |
1459 | V>A | No |
ClinGen gnomAD |
|
|
CA6128604 rs761313867 |
1459 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3810164 rs768355416 COSM3810165 CA6128602 |
1463 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6128600 rs775302183 |
1464 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1465 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128597 rs148768325 |
1466 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV001300882 CA6128598 rs763193925 |
1466 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1249538982 | 1468 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000518816 rs772124555 CA6128596 |
1469 | K>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1355572475 CA381470134 |
1469 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs748304604 CA6128595 |
1469 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA381470131 rs1355572475 |
1469 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755304389 CA6128593 |
1472 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1276444223 CA381470084 |
1473 | L>F | No |
ClinGen TOPMed |
|
|
rs1464620111 CA381470093 |
1473 | L>M | No |
ClinGen gnomAD |
|
|
CA224079734 rs900557211 |
1475 | Q>H | No |
ClinGen TOPMed |
|
|
rs780429156 CA6128591 |
1475 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs534982241 CA224079729 |
1477 | M>I | No |
ClinGen Ensembl |
|
|
rs756445671 CA6128590 |
1477 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs761295502 RCV000994663 CA6128587 |
1478 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs200940830 CA6128588 |
1478 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1676214 CA6128585 rs113974204 |
1480 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA224079721 rs113974204 |
1480 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128584 rs201169791 |
1480 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381470008 rs769576700 |
1482 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000517962 CA6128582 rs769576700 |
1482 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6128580 rs371470159 |
1483 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381470004 rs371470159 |
1483 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381469988 rs1213296276 |
1486 | A>S | No |
ClinGen gnomAD |
|
|
CA381469985 rs1364763817 |
1486 | A>V | No |
ClinGen gnomAD |
|
|
CA6128578 rs748220625 |
1487 | S>P | No |
ClinGen ExAC |
|
| TCGA novel | 1487 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128577 rs199961213 |
1488 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199961213 CA6128576 |
1488 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128572 rs377750743 |
1489 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377750743 CA6128573 |
1489 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381469965 rs1399638659 |
1490 | Q>R | No |
ClinGen gnomAD |
|
|
CA6128570 rs202066507 |
1495 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA224079705 rs952607630 |
1495 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs749661458 CA6128568 |
1496 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752328577 CA6128566 |
1497 | V>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000482504 CA16619382 rs1064795665 |
1499 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1225693376 CA381469862 |
1503 | W>R | No |
ClinGen gnomAD |
|
|
rs1229673724 CA381469852 |
1504 | V>G | No |
ClinGen TOPMed |
|
|
CA6128549 rs757901041 |
1504 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs752207336 CA6128548 |
1505 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764921528 CA6128547 |
1507 | R>Q | No |
ClinGen ExAC |
|
|
rs754630453 CA6128546 |
1509 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1260645984 CA381469822 |
1510 | M>V | No |
ClinGen TOPMed |
|
|
rs1314693222 CA381469813 |
1511 | A>T | No |
ClinGen gnomAD |
|
|
CA381469804 rs753562212 |
1512 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128545 rs753562212 |
1512 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760562766 CA6128543 |
1514 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1590923595 CA381469753 |
1519 | D>A | No |
ClinGen Ensembl |
|
|
rs1173149083 CA381469750 |
1519 | D>E | No |
ClinGen gnomAD |
|
|
rs767617743 CA224079611 RCV000992855 |
1520 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1473951742 CA381469739 |
1521 | P>L | No |
ClinGen gnomAD |
|
|
CA381469731 rs149464236 |
1522 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776851272 CA6128536 |
1523 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776851272 CA381469730 |
1523 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218202065 CA381469700 |
1526 | L>F | No |
ClinGen gnomAD |
|
|
CA6128534 rs747442469 |
1529 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA224079590 rs61890410 |
1531 | Q>K | No |
ClinGen Ensembl |
|
|
rs1252831130 CA381469524 |
1533 | L>V | No |
ClinGen gnomAD |
|
|
CA6128516 rs773607910 |
1539 | G>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000518019 rs748559171 CA6128514 |
1541 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1195257320 CA381469454 |
1542 | P>H | No |
ClinGen gnomAD |
|
|
CA6128512 rs370867480 |
1543 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128513 rs779489841 |
1543 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779828794 CA6128510 |
1545 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV002067597 RCV001644882 CA6128509 rs150801133 |
1545 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6128508 rs554183492 |
1546 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381469434 rs1248539800 |
1546 | D>G | No |
ClinGen TOPMed |
|
|
CA381469438 rs1372782576 |
1546 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381469436 rs1372782576 |
1546 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA381469420 rs1393713562 |
1548 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1228191843 CA381469419 |
1549 | E>K | No |
ClinGen gnomAD |
|
|
rs751384734 CA6128505 |
1550 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757086442 RCV000713050 CA6128506 |
1550 | R>W | Variant assessed as Somatic; 7.735e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs534582732 CA6128503 |
1552 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128502 rs182094691 |
1552 | R>H | Variant assessed as Somatic; 7.528e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA381469385 rs1590922554 |
1555 | G>S | No |
ClinGen Ensembl |
|
|
CA6128499 rs191457765 |
1556 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141382350 CA6128498 |
1557 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381469349 rs1159319624 |
1561 | P>S | No |
ClinGen TOPMed |
|
|
CA6128495 rs538779844 |
1562 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231740090 CA381469345 |
1562 | E>Q | No |
ClinGen gnomAD |
|
|
rs373224249 CA6128494 |
1563 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369316459 CA6128493 |
1564 | A>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6128492 rs748772314 |
1565 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381469320 rs1334252699 |
1566 | L>P | No |
ClinGen gnomAD |
|
|
rs779667441 CA6128491 |
1567 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769450868 CA6128490 |
1568 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311628812 CA381469306 |
1568 | E>V | No |
ClinGen gnomAD |
|
|
CA381469302 rs1436897398 |
1569 | M>V | No |
ClinGen gnomAD |
|
|
rs376440439 CA6128489 |
1572 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381469273 rs1468858442 |
1573 | L>M | No |
ClinGen gnomAD |
|
|
rs201513713 CA6128487 COSM255959 |
1574 | G>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6128486 rs138824342 |
1576 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381469241 rs1486522879 |
1578 | E>K | No |
ClinGen gnomAD |
|
|
CA6128485 rs372132609 |
1580 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758372977 CA381469228 |
1580 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758372977 CA6128484 |
1580 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381469223 rs1430240022 |
1581 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6128483 rs752664059 |
1582 | K>N | No |
ClinGen ExAC TOPMed |
|
|
CA381469212 rs766400529 |
1583 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs972140635 COSM690427 CA224079433 |
1583 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA381469176 rs1354273281 |
1589 | R>* | No |
ClinGen gnomAD |
|
|
rs767849819 CA6128479 COSM129419 |
1589 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1005031099 CA224079426 |
1590 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1005031099 CA381469172 |
1590 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1417223632 CA381469169 |
1590 | A>V | No |
ClinGen gnomAD |
|
|
CA381469159 rs1341438940 |
1592 | Q>K | No |
ClinGen gnomAD |
|
|
CA381469156 rs1403620049 |
1592 | Q>R | No |
ClinGen TOPMed |
|
|
CA6128478 rs771877691 |
1593 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399152503 CA381469140 |
1594 | Y>F | No |
ClinGen gnomAD |
|
|
rs549977438 RCV000516270 CA6128477 RCV001851464 |
1595 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM3810163 COSM2040854 CA6128475 rs763501939 |
1595 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6128476 rs763501939 |
1595 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6128472 rs776135148 |
1598 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128471 rs776135148 |
1598 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381469116 rs1237820390 |
1599 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1192146398 CA381469100 |
1600 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1601 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381469037 rs1590922018 |
1603 | W>C | No |
ClinGen Ensembl |
|
|
rs1285838836 CA381469012 |
1605 | G>C | No |
ClinGen gnomAD |
|
|
CA6128466 rs748025165 |
1606 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6128465 rs778828562 |
1609 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756184596 CA6128464 |
1610 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328577241 CA381468919 RCV000591693 |
1611 | M>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA381468925 rs1429009162 |
1611 | M>V | No |
ClinGen gnomAD |
|
|
CA6128463 rs750562397 |
1612 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1612 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392338100 CA381468907 |
1613 | G>D | No |
ClinGen gnomAD |
|
|
CA6128462 rs767600422 |
1613 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA224079402 rs1055847789 |
1614 | Q>* | No |
ClinGen TOPMed |
|
|
rs1414395222 CA381468894 |
1615 | E>G | No |
ClinGen gnomAD |
|
|
CA6128461 rs757456433 |
1615 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1565119084 CA381468885 |
1616 | K>M | No |
ClinGen Ensembl |
|
|
CA381468869 rs1252296443 |
1618 | K>N | No |
ClinGen TOPMed |
|
|
CA381468873 rs1565119082 |
1618 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1624 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1624 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169034422 CA381468774 |
1625 | A>E | No |
ClinGen gnomAD |
|
|
rs751736175 CA381468778 |
1625 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751736175 CA6128443 |
1625 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128441 rs758822609 |
1627 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1628 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990233587 CA381468727 |
1629 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs990233587 CA224079374 |
1629 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765809065 CA6128439 |
1632 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA224079371 rs932028407 |
1632 | V>L | No |
ClinGen TOPMed |
|
|
rs1053842135 CA224079369 |
1634 | E>K | No |
ClinGen TOPMed |
|
|
rs1053842135 CA224079367 |
1634 | E>Q | No |
ClinGen TOPMed |
|
|
rs1484351160 CA381468638 RCV000992858 |
1636 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs943649157 CA224079364 |
1637 | L>V | No |
ClinGen gnomAD |
|
|
CA381468624 rs1210567179 |
1638 | A>D | No |
ClinGen gnomAD |
|
|
CA381468622 rs1210567179 |
1638 | A>G | No |
ClinGen gnomAD |
|
|
COSM1475794 rs138405793 CA6128435 |
1639 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128433 RCV000880631 COSM194434 rs143640999 |
1641 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM930883 CA6128432 rs376009552 |
1641 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381468571 rs1164054396 COSM3791837 COSM3791838 |
1643 | T>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA381468558 rs1372277094 |
1644 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1392898209 CA381468563 |
1644 | I>V | No |
ClinGen TOPMed |
|
|
rs1590921433 CA381468547 |
1645 | H>P | No |
ClinGen Ensembl |
|
|
rs749188454 CA6128429 |
1646 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128428 rs145844240 |
1648 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381468499 rs1174923395 |
1650 | S>R | No |
ClinGen gnomAD |
|
|
rs747116264 CA6128426 |
1650 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA381468459 rs1210819670 |
1653 | D>N | No |
ClinGen gnomAD |
|
|
RCV000713051 RCV002252222 CA381468440 rs1258204858 |
1654 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1211045488 CA381468425 |
1655 | I>V | No |
ClinGen gnomAD |
|
|
CA381468410 rs1243533500 |
1656 | D>A | No |
ClinGen TOPMed |
|
|
rs1316601227 CA381468416 |
1656 | D>H | No |
ClinGen gnomAD |
|
|
rs894190127 CA224079346 |
1658 | E>K | No |
ClinGen TOPMed |
|
|
CA381468359 rs1351188944 |
1660 | P>S | No |
ClinGen gnomAD |
|
|
rs972165329 CA224079344 |
1662 | S>N | No |
ClinGen Ensembl |
|
|
rs1291239042 CA381468270 |
1663 | T>I | No |
ClinGen TOPMed |
|
|
CA6128394 rs201565101 COSM4165918 COSM194433 |
1664 | R>Q | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381468264 rs1394635759 |
1664 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1434971520 CA381468254 |
1665 | I>K | No |
ClinGen gnomAD |
|
|
rs537381969 CA381468259 CA224079229 |
1665 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1666 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224079226 rs898013936 |
1666 | S>P | No |
ClinGen Ensembl |
|
|
rs1210330344 CA381468237 |
1667 | I>V | No |
ClinGen gnomAD |
|
|
CA6128393 rs371574176 |
1668 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001287929 rs746585059 CA6128392 |
1668 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6128391 rs759499113 |
1670 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1302163994 CA381468151 |
1670 | A>V | No |
ClinGen gnomAD |
|
|
CA6128390 rs776725175 |
1671 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs772213139 CA6128389 |
1673 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381468101 rs1036502577 |
1674 | K>M | No |
ClinGen TOPMed |
|
|
rs1036502577 CA224079213 |
1674 | K>R | No |
ClinGen TOPMed |
|
|
CA381468091 rs1310394524 |
1675 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768814631 RCV000992860 CA6128386 |
1678 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA381468032 rs756510588 RCV000713052 |
1681 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs780229722 CA6128384 |
1681 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128383 rs756510588 |
1681 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381468017 rs1417432421 |
1683 | A>T | No |
ClinGen gnomAD |
|
|
CA224079203 rs909247644 |
1683 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781712272 CA381468002 |
1684 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1249439457 CA381468007 |
1684 | G>R | No |
ClinGen gnomAD |
|
|
rs781712272 CA6128381 |
1684 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs368373337 CA224079193 |
1686 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751117747 CA6128379 |
1686 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368373337 CA6128380 COSM1227488 |
1686 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000518438 rs763770499 CA6128378 |
1687 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1346626130 CA381467978 |
1687 | R>W | No |
ClinGen gnomAD |
|
|
CA224079186 rs889285939 |
1688 | E>G | No |
ClinGen Ensembl |
|
|
rs752416472 CA6128376 |
1689 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764884402 CA6128375 |
1689 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759411271 CA6128374 |
1691 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs982020454 CA224079174 |
1692 | E>K | No |
ClinGen Ensembl |
|
|
rs1416537937 CA381467910 |
1693 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1416537937 CA381467912 |
1693 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA224079171 rs562971143 |
1693 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs766484308 CA6128372 |
1694 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs542758880 CA381467894 |
1695 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128370 rs542758880 |
1695 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128371 rs150270569 RCV001287930 |
1695 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1161277822 CA381467879 |
1697 | C>Y | No |
ClinGen gnomAD |
|
|
CA381467869 rs1472900189 |
1698 | Q>E | No |
ClinGen gnomAD |
|
|
rs1185093392 CA381467852 |
1700 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1185093392 CA381467854 |
1700 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV001401082 RCV000516331 CA6128366 rs141457344 |
1700 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141457344 CA224079164 |
1700 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128364 COSM930880 rs770136906 |
1701 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs907900432 CA224079153 COSM1196064 |
1701 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6128362 COSM1227490 rs781647988 |
1702 | E>K | large_intestine Variant assessed as Somatic; 6.578e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1334709657 CA381467831 |
1704 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6128361 rs771467437 |
1705 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381467795 rs1450550188 |
1708 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1708 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461479735 CA381467789 |
1708 | Q>R | No |
ClinGen TOPMed |
|
|
rs777099185 CA6128359 |
1709 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1433249365 CA381467766 |
1710 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6128358 rs757941067 |
1711 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128356 rs778696426 |
1712 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6128357 rs752225841 |
1712 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6128355 RCV001287931 rs754809056 |
1713 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6128354 rs753738305 |
1713 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA224079117 rs578257417 |
1714 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA381467696 rs1463309611 |
1717 | A>T | No |
ClinGen gnomAD |
|
|
rs376579703 CA6128352 |
1717 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381467678 rs1467640503 |
1718 | A>G | No |
ClinGen gnomAD |
|
|
CA381467677 rs1467640503 |
1718 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1719 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763157375 CA6128349 CA381467657 |
1720 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381467648 rs1230586497 |
1721 | E>G | No |
ClinGen gnomAD |
|
|
rs775558666 CA6128348 |
1723 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA224079109 rs548649794 |
1727 | E>K | No |
ClinGen gnomAD |
|
|
CA381467570 rs1246975169 |
1728 | H>R | No |
ClinGen gnomAD |
|
|
rs1413593883 CA381466232 |
1733 | R>Q | No |
ClinGen gnomAD |
|
|
CA6128326 rs377666600 |
1734 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128325 rs144418447 |
1736 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128324 rs772686315 |
1737 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1739 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381466131 rs747582537 |
1740 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747582537 CA6128323 |
1740 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs768308769 CA6128321 |
1741 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128320 rs557589937 |
1741 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224078848 rs768308769 |
1741 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224078845 rs774544567 |
1743 | T>I | No |
ClinGen gnomAD |
|
|
CA381466067 rs1590917607 |
1745 | T>P | No |
ClinGen Ensembl |
|
|
rs1209655514 CA381466057 |
1745 | T>S | No |
ClinGen gnomAD |
|
|
CA6128317 rs745723069 |
1747 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381466007 rs1219814931 |
1748 | Q>* | No |
ClinGen gnomAD |
|
|
rs1270961036 CA381465975 |
1749 | E>A | No |
ClinGen TOPMed |
|
|
CA381465963 rs886048548 |
1750 | R>C | No |
ClinGen gnomAD |
|
|
rs780958409 CA6128316 |
1750 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308458908 CA381465943 |
1751 | V>I | No |
ClinGen gnomAD |
|
|
CA381465932 rs1447044266 |
1752 | D>N | No |
ClinGen gnomAD |
|
|
CA6128314 rs369416578 |
1754 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414530502 CA381465880 |
1754 | A>V | No |
ClinGen gnomAD |
|
|
rs765242216 CA381465856 |
1755 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs755055995 CA6128312 |
1756 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754055406 CA6128311 |
1756 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6128309 rs201712933 |
1759 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445035202 CA381465765 |
1761 | L>P | No |
ClinGen TOPMed |
|
|
rs1590917391 CA381465755 |
1762 | I>T | No |
ClinGen Ensembl |
|
|
rs569231673 CA6128308 RCV000992861 |
1762 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1211153916 CA381465738 |
1763 | A>G | No |
ClinGen gnomAD |
|
|
CA381465724 rs1266357779 |
1765 | G>S | No |
ClinGen gnomAD |
|
|
CA381465689 rs1226472555 |
1768 | A>S | No |
ClinGen gnomAD |
|
|
rs1002664131 CA6128305 |
1768 | A>V | No |
ClinGen TOPMed |
|
|
rs535929661 CA6128302 |
1769 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146455382 CA6128304 |
1769 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128301 rs372114770 |
1770 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000517272 CA6128298 RCV000920894 rs200189497 |
1772 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1458390973 CA381465626 |
1774 | E>K | No |
ClinGen gnomAD |
|
|
rs952402615 CA224078811 |
1775 | W>S | No |
ClinGen Ensembl |
|
|
CA224078808 CA224078805 rs623022 |
1780 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6128296 RCV000992863 rs375849761 |
1780 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777756110 RCV000494357 CA6128294 |
1781 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA6128293 rs755038046 |
1782 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755038046 CA381465471 |
1782 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381465456 rs1464652731 |
1783 | W>* | No |
ClinGen gnomAD |
|
|
CA6128292 rs753970624 |
1785 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs971568410 CA224078800 |
1787 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1565116120 CA381465402 |
1788 | E>K | No |
ClinGen Ensembl |
|
|
CA6128290 rs756322570 |
1790 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1791 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371495419 CA6128289 |
1792 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381465353 rs1314673381 |
1793 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1246473144 CA381465350 |
1793 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381465351 rs1314673381 |
1793 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6128288 rs762146913 |
1794 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128287 rs762146913 |
1794 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128286 rs144465703 |
1795 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293450936 CA381465303 |
1798 | A>G | No |
ClinGen gnomAD |
|
|
CA381465310 rs1388800268 |
1798 | A>T | No |
ClinGen gnomAD |
|
|
rs775098613 CA224078789 |
1799 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128284 rs762519261 |
1799 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775098613 CA6128283 |
1799 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6128281 rs367960697 |
1800 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000992864 CA6128278 rs149317715 |
1802 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs373877632 COSM3687557 COSM3687558 CA6128277 |
1805 | R>C | large_intestine Variant assessed as Somatic; 4.845e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001287932 rs1222870637 CA381465228 |
1805 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs551289643 CA6128276 |
1807 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224078772 rs996073791 |
1807 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1808 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113551867 CA381465188 |
1808 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326470932 CA381465184 |
1809 | G>R | No |
ClinGen gnomAD |
|
|
rs901693365 CA224078768 |
1811 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs372128288 CA6128273 |
1811 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1040205460 CA224078765 |
1813 | A>G | No |
ClinGen Ensembl |
|
|
CA224078763 rs980898064 |
1815 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757668466 CA381465117 |
1816 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1170685501 CA381465102 |
1817 | V>L | No |
ClinGen gnomAD |
|
|
CA224078757 rs867887749 |
1820 | K>E | No |
ClinGen Ensembl |
|
|
rs1196799989 CA381465054 |
1820 | K>R | No |
ClinGen gnomAD |
|
|
rs1590916804 CA381465020 |
1822 | Q>R | No |
ClinGen Ensembl |
|
|
CA381464992 COSM1266759 rs1280126515 |
1824 | L>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs140642213 RCV001287933 CA6128268 |
1825 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6128263 rs776341129 |
1827 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA224078746 rs1032630878 |
1830 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760439028 CA6128261 |
1830 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748008923 CA6128258 |
1831 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs771882386 COSM1356308 CA6128259 |
1831 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6128257 rs202081167 |
1832 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008380765 CA224078735 |
1833 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6128255 rs745978030 |
1834 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA381464831 rs1392369554 |
1836 | E>K | No |
ClinGen gnomAD |
|
|
rs757508373 CA6128253 |
1838 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000760798 CA381464786 rs1166383301 |
1839 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA381464790 rs1166383301 |
1839 | Q>K | No |
ClinGen TOPMed |
|
|
CA381464770 rs1590916625 |
1840 | R>C | No |
ClinGen Ensembl |
|
|
CA6128252 rs747267955 |
1840 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866476391 CA224078732 |
1841 | R>* | No |
ClinGen gnomAD |
|
|
rs866476391 CA381464762 |
1841 | R>G | No |
ClinGen gnomAD |
|
|
CA6128251 rs778218574 RCV001644617 |
1841 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6128249 rs143651157 |
1843 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128250 rs143651157 |
1843 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381464685 rs754478833 |
1845 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128247 rs765730537 |
1845 | Y>C | No |
ClinGen ExAC |
|
|
CA381464703 rs1590916576 |
1845 | Y>H | No |
ClinGen Ensembl |
|
|
CA6128245 rs753335851 |
1846 | E>Q | No |
ClinGen ExAC |
|
|
CA6128244 rs765894915 |
1847 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760277653 CA6128243 |
1849 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs760277653 CA381464600 |
1849 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1850 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254976422 CA381464567 |
1850 | Q>R | No |
ClinGen gnomAD |
|
|
CA6128242 rs772852322 |
1853 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187599735 CA381464419 |
1858 | Q>E | No |
ClinGen gnomAD |
|
|
rs773537013 CA6128214 |
1859 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1479137386 CA381464406 |
1860 | Q>E | No |
ClinGen TOPMed |
|
|
rs748423415 CA6128212 |
1862 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769067679 CA381464383 |
1863 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6128210 rs769067679 |
1863 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1360635897 CA381464378 |
1864 | H>D | No |
ClinGen gnomAD |
|
|
CA381464375 rs780591556 |
1864 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128208 rs780591556 |
1864 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749987736 CA6128206 |
1865 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128202 rs568647255 |
1870 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM4146176 COSM4146177 CA6128200 rs752677090 |
1871 | A>T | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765304999 CA6128199 |
1872 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1427473228 CA381464284 |
1874 | K>N | No |
ClinGen gnomAD |
|
|
CA381464270 rs1421239770 |
1876 | E>Q | No |
ClinGen gnomAD |
|
|
rs368160740 CA381464228 |
1878 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224078474 rs1016461653 |
1879 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375691707 CA6128196 RCV000518224 |
1880 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6128195 rs35532855 |
1880 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6128193 rs768886276 |
1882 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749716075 CA6128192 |
1883 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6128190 rs770241054 |
1885 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381464132 rs1218661035 |
1886 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6128187 rs756807663 |
1887 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750213930 CA6128186 |
1888 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381464094 rs1345883746 |
1889 | W>* | No |
ClinGen gnomAD |
|
|
CA6128185 rs546224509 |
1890 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381464080 rs546224509 |
1890 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408551994 CA381464064 |
1891 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6128184 RCV000992867 rs148293687 |
1894 | G>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs148293687 CA6128183 |
1894 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355856843 CA381464002 |
1896 | S>F | No |
ClinGen gnomAD |
|
|
rs1422530704 CA381463982 |
1898 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1422530704 CA381463979 |
1898 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753828979 CA6128180 |
1899 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs201017398 CA6128179 |
1899 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774428740 CA6128177 |
1900 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128178 rs762007511 |
1900 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199930909 CA224078454 |
1901 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1902 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763188900 CA6128175 |
1903 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1905 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347809906 CA381463890 |
1906 | T>N | No |
ClinGen gnomAD |
|
|
rs770151324 CA381463877 |
1907 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128172 rs770151324 |
1907 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554977664 CA6128170 |
1908 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1908 | D>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128169 rs746318464 |
1909 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1203582118 CA381463835 |
1910 | F>L | No |
ClinGen TOPMed |
|
|
rs141392350 CA6128167 |
1911 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746569707 CA6128166 |
1911 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202247290 CA6128164 RCV000518618 |
1912 | F>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA381463788 rs1338081152 |
1914 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1915 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128163 rs146642873 |
1915 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590913727 CA381463760 |
1916 | V>G | No |
ClinGen Ensembl |
|
|
CA6128162 rs778782856 |
1917 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224078433 rs868609865 COSM930879 |
1917 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6128161 rs754831286 |
1918 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1590913673 CA381463737 |
1919 | L>M | No |
ClinGen Ensembl |
|
|
rs1181471131 CA381463716 |
1920 | M>I | No |
ClinGen gnomAD |
|
|
CA381463626 rs1471902719 |
1927 | N>S | No |
ClinGen gnomAD |
|
|
CA381463595 rs1204314039 |
1931 | D>V | No |
ClinGen gnomAD |
|
|
rs530580113 CA6128159 RCV000516878 |
1935 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1252382879 CA381463563 |
1936 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1472239511 CA381463564 |
1936 | P>S | No |
ClinGen gnomAD |
|
|
rs764114440 CA381463560 |
1937 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6128155 rs763096895 |
1937 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764114440 CA6128156 |
1937 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1938 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6128135 rs758533050 |
1939 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs969917005 CA224078392 |
1940 | S>F | No |
ClinGen Ensembl |
|
|
rs1023785073 CA224078393 |
1940 | S>P | No |
ClinGen TOPMed |
|
|
rs765483709 CA6128133 |
1942 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381463486 COSM194432 rs1429407555 |
1942 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1509607 rs765483709 CA224078388 |
1942 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381463452 rs1262329146 |
1945 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA224078382 rs999411435 |
1945 | V>F | No |
ClinGen TOPMed |
|
|
CA381463451 rs1262329146 |
1945 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766685465 CA6128130 |
1947 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489782983 CA381463423 |
1948 | N>D | No |
ClinGen gnomAD |
|
|
rs1940417909 RCV000992868 |
1949 | Q>R | No |
ClinVar dbSNP |
|
|
CA224078378 rs992579999 |
1950 | Q>* | No |
ClinGen Ensembl |
|
|
rs761175467 CA6128129 |
1951 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6128128 rs771691919 |
1955 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA224078375 rs959864275 |
1955 | E>K | No |
ClinGen Ensembl |
|
|
rs1340966009 CA381463324 |
1956 | I>T | No |
ClinGen gnomAD |
|
|
CA381463291 COSM1227484 rs1307635233 |
1959 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6128125 rs774111091 |
1959 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369781111 CA381463284 |
1960 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369781111 CA6128124 |
1960 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347754807 CA381463259 |
1963 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1021267778 CA224078355 |
1965 | S>F | No |
ClinGen Ensembl |
|
|
CA381463215 rs779835767 |
1967 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128121 rs779835767 |
1967 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553316548 CA6128119 |
1968 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546188643 CA6128117 CA381463185 |
1969 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781174500 CA381463191 |
1969 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs781174500 CA6128118 |
1969 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6128116 rs752823742 |
1972 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6128115 rs778987846 |
1973 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128113 rs754011198 |
1976 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs145836121 CA6128112 |
1977 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1978 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381463087 rs1480657434 |
1978 | H>Y | No |
ClinGen gnomAD |
|
|
rs1254955697 CA381463073 |
1979 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6128110 rs750934185 RCV000713053 |
1980 | A>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs761002092 CA6128111 |
1980 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782670 COSM3782671 rs750934185 CA381463059 |
1980 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768176227 CA6128109 |
1981 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368916464 CA6128107 |
1982 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577312258 CA6128106 |
1983 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6128105 rs577312258 |
1983 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs896006337 CA224076176 |
1984 | I>L | No |
ClinGen TOPMed |
|
|
rs1057345556 CA224076174 |
1986 | E>G | No |
ClinGen TOPMed |
|
|
rs934803556 CA224076173 |
1987 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381461213 rs1289861297 COSM3791834 COSM3791833 |
1990 | Q>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs368415742 CA381461109 |
1993 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368415742 CA6128081 |
1993 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746890946 CA6128079 |
1994 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs746890946 CA6128078 |
1994 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6128080 rs140000699 |
1994 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM303296 COSM3764336 rs374895441 RCV000992869 CA6128077 |
1995 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs139107445 CA6128076 |
1995 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6128074 rs371820273 |
1998 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1364773749 CA381460963 |
1998 | T>S | No |
ClinGen gnomAD |
|
|
CA381460952 rs1426113616 |
1999 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 2000 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2000 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385507134 CA381460815 |
2002 | W>C | No |
ClinGen gnomAD |
|
|
rs200432232 CA6128073 |
2004 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381460709 rs1474147566 |
2006 | M>T | No |
ClinGen gnomAD |
|
|
CA381460669 rs1310885749 |
2007 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1194608275 CA381460657 |
2008 | W>* | No |
ClinGen gnomAD |
|
|
rs962876317 CA224076138 |
2011 | L>R | No |
ClinGen Ensembl |
|
|
CA381460401 rs1179285820 |
2013 | L>W | No |
ClinGen gnomAD |
|
|
rs1480966555 CA381460356 |
2014 | E>D | No |
ClinGen gnomAD |
|
|
CA381460337 rs1590910241 |
2015 | V>G | No |
ClinGen Ensembl |
|
|
CA381460308 rs1321896317 |
2017 | V>M | No |
ClinGen gnomAD |
|
|
CA381460250 rs1407775994 |
2019 | G>* | No |
ClinGen gnomAD |
|
|
CA381460249 rs1565111787 |
2019 | G>A | No |
ClinGen Ensembl |
|
|
CA6128054 rs748137168 |
2021 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775389037 CA6128053 |
2023 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6128052 rs769933559 |
2025 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1460079491 CA381460023 |
2030 | C>Y | No |
ClinGen gnomAD |
|
|
rs1205523398 CA381459964 |
2033 | E>Q | No |
ClinGen gnomAD |
|
|
CA381459899 rs1590910144 |
2036 | V>G | No |
ClinGen Ensembl |
|
|
CA381459907 rs1283240546 |
2036 | V>L | No |
ClinGen gnomAD |
|
|
COSM3703630 COSM1605090 CA6128048 rs144215906 |
2037 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1279786449 CA381459862 |
2038 | S>N | No |
ClinGen gnomAD |
|
|
CA381459841 rs758793150 |
2039 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758793150 CA6128046 |
2039 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381459768 rs1345150432 |
2043 | C>Y | No |
ClinGen gnomAD |
|
|
rs199759434 CA6128044 |
2044 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224075903 rs1042146441 COSM1356307 |
2046 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM36751 CA224075889 rs201985455 |
2047 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA6128040 rs199725636 |
2048 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1483515911 CA381459654 |
2049 | E>D | No |
ClinGen gnomAD |
|
|
CA6128039 rs750132645 |
2050 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2052 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2054 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761586529 CA6128037 |
2054 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA224075858 rs774407429 |
2056 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6128036 rs774407429 |
2056 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316481395 CA381459523 |
2058 | F>V | No |
ClinGen gnomAD |
|
|
CA6128035 rs147219661 |
2059 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6128034 rs759733455 |
2064 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990909949 CA224075845 |
2066 | E>D | No |
ClinGen Ensembl |
|
|
rs1430729221 CA381459418 |
2066 | E>G | No |
ClinGen TOPMed |
|
|
rs1248725495 CA381459425 |
2066 | E>K | No |
ClinGen gnomAD |
|
|
CA381459394 rs1206910379 |
2068 | R>Q | No |
ClinGen gnomAD |
|
|
CA381459355 rs1346198672 |
2071 | A>V | No |
ClinGen gnomAD |
|
|
CA381459295 rs1164224430 |
2076 | T>N | No |
ClinGen gnomAD |
|
|
rs772498139 CA6128029 |
2077 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6128028 rs748587973 |
2077 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769099784 CA381459243 |
2078 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2080 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751766073 CA224075614 |
2081 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431223627 CA381459200 |
2082 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs780940474 CA6128004 |
2083 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145191943 CA6128002 RCV000658600 |
2084 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1018231878 CA224075583 |
2085 | R>* | No |
ClinGen gnomAD |
|
|
rs143781509 CA381459161 |
2085 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6128001 rs143781509 |
2085 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs758346802 CA6128000 |
2088 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1256908524 CA381459141 |
2088 | K>R | No |
ClinGen gnomAD |
|
|
CA224075576 RCV000518678 rs890981545 RCV002525087 |
2089 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1447603843 CA381459132 |
2090 | E>K | No |
ClinGen gnomAD |
|
|
rs1335973725 CA381459124 |
2091 | E>K | No |
ClinGen gnomAD |
|
|
rs549811379 CA6127996 |
2091 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773275665 CA6127994 |
2092 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195473923 CA381459107 |
2093 | E>G | No |
ClinGen gnomAD |
|
|
CA6127993 rs767828250 |
2093 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038084337 CA224075552 |
2094 | R>Q | No |
ClinGen gnomAD |
|
|
CA6127991 rs368782432 RCV001287935 |
2094 | R>W | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs774653711 CA6127989 |
2095 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761960627 CA6127990 RCV001287936 |
2095 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6127988 rs530064784 |
2097 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571837788 CA6127987 |
2098 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381459080 rs1242043389 |
2098 | P>S | No |
ClinGen gnomAD |
|
|
CA6127985 rs144563313 |
2099 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6127984 rs745437440 |
2100 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA381459066 rs780592625 |
2101 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381459061 rs1262677296 |
2101 | P>L | No |
ClinGen gnomAD |
|
|
CA6127983 rs780592625 |
2101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590908532 CA381459046 |
2102 | E>D | No |
ClinGen Ensembl |
|
|
CA6127980 rs374457871 |
2102 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758328467 CA6127979 |
2103 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA381459021 rs1193582061 |
2104 | T>I | No |
ClinGen TOPMed |
|
|
CA6127978 rs752676752 |
2104 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA381459010 rs1342134508 |
2105 | A>T | No |
ClinGen gnomAD |
|
|
CA381458993 rs1442368880 |
2106 | S>I | No |
ClinGen TOPMed |
|
|
CA6127977 rs765304605 |
2106 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381458921 rs1385299558 |
2111 | D>E | No |
ClinGen TOPMed |
|
|
CA381458930 rs750466944 |
2111 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127975 rs750466944 |
2111 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127976 rs750466944 |
2111 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381458886 rs1299631766 |
2114 | G>S | No |
ClinGen gnomAD |
|
|
CA6127971 rs764425627 |
2115 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200435710 CA6127972 |
2115 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA381458822 rs1369542867 |
2118 | A>V | No |
ClinGen gnomAD |
|
|
rs763350682 CA6127970 |
2119 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2120 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371560959 CA224075477 |
2122 | T>I | No |
ClinGen ESP TOPMed |
|
| rs770289355 | 2124 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381458740 rs1383294486 |
2124 | D>H | No |
ClinGen TOPMed |
|
|
CA381458742 rs1383294486 |
2124 | D>N | No |
ClinGen TOPMed |
|
|
rs1490228195 CA381458716 |
2125 | G>E | No |
ClinGen gnomAD |
|
|
CA224075473 CA6127967 rs746396925 |
2125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381458657 rs1337294295 |
2126 | T>I | No |
ClinGen gnomAD |
|
|
rs1590907938 CA381458669 |
2126 | T>P | No |
ClinGen Ensembl |
|
|
CA6127946 rs777143650 |
2129 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127945 RCV000713056 COSM930877 rs777143650 |
2129 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6127947 rs556784868 |
2129 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs747833695 CA6127944 |
2131 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747833695 CA381458600 |
2131 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6127943 rs766668865 |
2132 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127942 rs768346585 |
2133 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1005242263 CA224075401 |
2134 | T>A | No |
ClinGen Ensembl |
|
|
CA6127941 rs749233146 |
2136 | A>V | No |
ClinGen ExAC |
|
|
rs1263554387 CA381458519 |
2138 | S>G | No |
ClinGen TOPMed |
|
|
rs200701472 CA224075397 |
2138 | S>R | No |
ClinGen Ensembl |
|
|
rs990375605 CA224075396 |
2140 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2141 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2145 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381458395 rs1232528664 |
2147 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2147 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381458388 rs1179682977 |
2147 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381458378 rs1419217502 |
2148 | P>S | No |
ClinGen TOPMed |
|
|
rs894825852 CA224075386 |
2149 | S>P | No |
ClinGen Ensembl |
|
|
rs565739874 CA6127917 |
2151 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381458228 rs1355436456 |
2152 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs558689390 CA6127916 |
2154 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381458208 rs1309310010 |
2154 | G>R | No |
ClinGen gnomAD |
|
|
rs1381155111 CA381458169 |
2156 | Q>E | No |
ClinGen gnomAD |
|
|
rs894331418 CA224075296 |
2156 | Q>H | No |
ClinGen TOPMed |
|
|
CA6127915 rs376920607 |
2157 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2158 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2158 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224075290 rs938481605 |
2159 | E>K | No |
ClinGen TOPMed |
|
|
rs1355295231 CA381458050 |
2161 | S>N | No |
ClinGen TOPMed |
|
|
rs1355295231 CA381458047 |
2161 | S>T | No |
ClinGen TOPMed |
|
|
rs756622530 CA6127913 |
2164 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6127911 rs372101504 |
2165 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381457961 rs761473238 CA6127910 |
2166 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1162946011 | 2167 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404256081 CA381457938 |
2167 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs774224948 CA6127878 |
2168 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282861762 CA381457166 |
2169 | P>S | No |
ClinGen gnomAD |
|
|
CA6127875 rs762557527 |
2171 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6127873 rs746281043 |
2172 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775029989 CA224075064 |
2173 | D>N | No |
ClinGen gnomAD |
|
|
rs775029989 CA381457064 |
2173 | D>Y | No |
ClinGen gnomAD |
|
|
rs562970564 CA6127871 |
2175 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6127870 rs201811428 |
2176 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6127869 rs201811428 |
2176 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469992719 CA381456934 |
2177 | G>E | No |
ClinGen TOPMed |
|
|
CA381456912 rs1480062442 |
2178 | P>L | No |
ClinGen gnomAD |
|
|
CA6127866 rs752318811 |
2178 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752318811 CA381456926 |
2178 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764921928 CA6127865 |
2179 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381456897 CA6127863 rs574428124 |
2180 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381456876 rs893992697 |
2181 | E>D | No |
ClinGen gnomAD |
|
|
CA6127862 rs186129774 |
2181 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381456870 rs1473161078 |
2182 | R>K | No |
ClinGen gnomAD |
|
|
rs943437396 CA224074982 |
2183 | Q>H | No |
ClinGen Ensembl |
|
|
CA6127860 rs773259540 |
2184 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6127858 rs199806599 |
2185 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs765660173 CA6127859 |
2185 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381456786 rs775830950 |
2187 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6127857 rs775830950 COSM930874 |
2187 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1333466788 CA381456791 |
2187 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1202379770 CA381456770 |
2188 | G>D | No |
ClinGen TOPMed |
|
|
rs1464407337 CA381456752 |
2189 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376249009 CA381456745 |
2189 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2190 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235776885 CA381456694 |
2193 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381456686 rs1235776885 |
2193 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747471733 COSM930873 CA6127852 |
2194 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA381456654 rs1197274405 |
2194 | M>T | No |
ClinGen TOPMed |
|
|
CA381456640 rs1458553022 |
2195 | P>T | No |
ClinGen gnomAD |
|
|
rs757828246 CA6127850 |
2198 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1565108819 CA381456565 |
2198 | R>S | No |
ClinGen Ensembl |
|
|
rs778423634 CA6127848 |
2201 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM265859 CA381456529 rs1256781556 RCV000992872 |
2201 | E>K | large_intestine Variant assessed as Somatic; 4.975e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1351819025 CA381456470 |
2203 | A>V | No |
ClinGen gnomAD |
|
|
rs867881266 CA224074910 |
2206 | A>V | No |
ClinGen TOPMed |
|
|
rs1311464400 CA381456404 RCV000516463 |
2207 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA381456417 rs1590906096 |
2207 | T>P | No |
ClinGen Ensembl |
|
|
COSM1188314 CA6127847 rs754554600 |
2209 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381456351 rs1333503788 |
2211 | R>* | No |
ClinGen gnomAD |
|
|
CA381456355 rs1333503788 |
2211 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766069898 CA6127845 |
2211 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127843 rs750296138 |
2212 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs761862995 CA6127842 |
2212 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6127841 rs761862995 |
2212 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1378102462 CA381456322 |
2213 | P>S | No |
ClinGen gnomAD |
|
|
CA381456274 rs1439838841 |
2215 | P>S | No |
ClinGen gnomAD |
|
|
rs572092639 CA6127839 |
2216 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558586817 CA381456242 |
2217 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558586817 CA6127838 |
2217 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381456224 rs1425905434 |
2217 | A>V | No |
ClinGen gnomAD |
|
|
CA224074867 rs951185636 |
2218 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs377245594 CA224074862 |
2222 | E>K | No |
ClinGen ESP |
|
|
rs1358863215 CA381456061 |
2226 | C>F | No |
ClinGen gnomAD |
|
|
rs370257588 CA6127835 |
2227 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381455940 rs1313081711 |
2232 | E>K | No |
ClinGen gnomAD |
|
|
rs1268819231 CA381455909 |
2233 | A>V | No |
ClinGen TOPMed |
|
|
CA381455906 rs1338958285 |
2234 | F>L | No |
ClinGen TOPMed |
|
|
CA6127833 rs772594172 |
2235 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419744971 CA381455773 |
2238 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 2239 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748655094 CA6127832 |
2239 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6127831 rs778333653 |
2240 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6127801 rs760892086 |
2243 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590905178 CA381455409 |
2245 | N>S | No |
ClinGen Ensembl |
|
|
rs774816936 CA6127797 RCV000730149 |
2249 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| TCGA novel | 2251 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6127795 rs763398880 RCV000713057 |
2251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6127794 rs775007929 |
2252 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224074511 rs529514462 |
2252 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529514462 CA381455286 |
2252 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1590905077 CA381455241 |
2254 | S>R | No |
ClinGen Ensembl |
|
|
CA6127791 rs112384228 |
2256 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA381455139 rs1456339071 |
2260 | D>Y | No |
ClinGen gnomAD |
|
|
CA381455118 rs1204948388 |
2261 | A>V | No |
ClinGen gnomAD |
|
|
rs1185053921 CA381455078 |
2265 | S>C | No |
ClinGen TOPMed |
|
|
COSM1227487 CA6127788 rs138457770 |
2266 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA381455045 rs1379744808 |
2267 | G>E | No |
ClinGen gnomAD |
|
|
rs564754292 CA6127784 |
2267 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001202534 rs767774651 |
2268 | V>A | No |
ClinVar dbSNP |
|
|
CA6127782 rs767774651 |
2268 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA381455023 rs767774651 |
2268 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA381455005 rs1357838294 |
2269 | P>S | No |
ClinGen gnomAD |
|
|
CA381454933 rs1415220797 |
2272 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751878972 CA6127780 |
2274 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6127779 rs368541668 |
2276 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2279 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381454726 rs1590904857 |
2284 | S>N | No |
ClinGen Ensembl |
|
|
rs775930412 CA6127777 |
2285 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA381454586 rs1332742631 |
2289 | Y>* | No |
ClinGen gnomAD |
|
|
rs200100829 CA6127775 |
2290 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1211978757 CA381454545 |
2292 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1590904746 CA381454482 |
2295 | V>A | No |
ClinGen Ensembl |
|
|
CA6127773 rs770671741 |
2295 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA224074411 rs766981787 |
2297 | K>R | No |
ClinGen TOPMed |
|
|
CA224074412 rs766981787 |
2297 | K>T | No |
ClinGen TOPMed |
|
|
CA381454329 rs1248938306 |
2300 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2302 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381454220 rs1448528060 |
2309 | Q>* | No |
ClinGen TOPMed |
|
|
CA381454192 rs749226138 |
2310 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000992873 CA6127745 rs749226138 |
2310 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1447915820 CA381453151 |
2314 | A>E | No |
ClinGen TOPMed |
|
|
CA224073819 rs184825626 |
2314 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6127674 rs148344758 |
2317 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148344758 CA6127675 |
2317 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6127673 rs780506142 |
2318 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757727990 COSM930868 CA6127669 |
2321 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6127670 rs781747438 |
2321 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6127668 rs542313918 |
2322 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381453050 rs542313918 |
2322 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381453038 rs1590902080 |
2323 | V>G | No |
ClinGen Ensembl |
|
|
rs1457180871 CA381453044 |
2323 | V>L | No |
ClinGen TOPMed |
|
|
rs1253594852 CA381453011 |
2325 | A>V | No |
ClinGen gnomAD |
|
|
rs886090164 CA224073787 |
2327 | I>T | No |
ClinGen Ensembl |
|
|
rs1197742745 CA381452973 |
2328 | A>V | No |
ClinGen gnomAD |
|
|
CA224073785 rs1049319994 |
2329 | T>A | No |
ClinGen Ensembl |
|
|
CA381452956 rs1456324251 |
2330 | A>T | No |
ClinGen gnomAD |
|
|
rs777270558 CA6127667 |
2330 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127665 rs752406774 |
2334 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA381452911 rs1432504106 |
2334 | S>P | No |
ClinGen TOPMed |
|
|
rs1432504106 CA381452912 |
2334 | S>T | No |
ClinGen TOPMed |
|
|
COSM930867 CA6127664 rs765015336 |
2336 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754846058 CA6127663 |
2337 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6127661 rs528996567 |
2340 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753692834 CA6127662 |
2340 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6127659 rs774502049 |
2341 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044922607 CA224073770 |
2343 | P>L | No |
ClinGen Ensembl |
|
|
rs1454792892 CA381452795 |
2344 | S>N | No |
ClinGen gnomAD |
|
|
CA6127657 rs148840695 |
2344 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6127656 rs770261235 |
2345 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000992874 rs770261235 CA6127655 |
2345 | T>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381452790 rs1590901848 |
2345 | T>P | No |
ClinGen Ensembl |
|
|
CA381452775 rs1177999148 |
2346 | T>I | No |
ClinGen gnomAD |
|
|
rs1590901820 CA381452779 |
2346 | T>P | No |
ClinGen Ensembl |
|
|
rs776892864 CA6127653 |
2347 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746195427 CA6127654 |
2347 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381452743 rs1182290442 |
2349 | M>T | No |
ClinGen gnomAD |
|
|
rs1590901766 CA381452733 |
2350 | T>P | No |
ClinGen Ensembl |
|
|
rs367554726 CA6127650 |
2351 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6127651 rs753896989 |
2351 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956041767 CA224073722 |
2352 | A>T | No |
ClinGen Ensembl |
|
|
rs866159280 CA224073717 |
2352 | A>V | No |
ClinGen Ensembl |
|
|
rs747771442 CA6127648 |
2354 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6127647 rs557734046 |
2355 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447821466 CA381452636 |
2357 | P>A | No |
ClinGen gnomAD |
|
|
rs1338890856 CA381452624 |
2358 | V>L | No |
ClinGen gnomAD |
|
|
CA381452601 rs1315086037 |
2360 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381452600 rs1315086037 |
2360 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6127643 rs756019688 |
2361 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs374211174 CA6127644 |
2361 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764264434 CA6127641 |
2362 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2363 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6127639 rs775734881 |
2364 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381452493 rs1189552272 |
2367 | V>A | No |
ClinGen gnomAD |
|
|
CA6127636 rs759684177 |
2369 | L>P | No |
ClinGen ExAC |
|
|
rs1261784244 CA381452448 |
2370 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381452452 rs1261784244 |
2370 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866945292 CA224073687 |
2374 | G>S | No |
ClinGen gnomAD |
|
|
rs1228100154 CA381452315 |
2375 | R>G | No |
ClinGen gnomAD |
|
|
CA381452295 rs1333217450 |
2376 | E>K | No |
ClinGen gnomAD |
|
|
rs1379054731 CA381452268 |
2377 | R>* | No |
ClinGen TOPMed |
|
|
rs1415587197 CA381452264 |
2377 | R>Q | No |
ClinGen gnomAD |
|
|
CA224073667 rs555843012 |
2379 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6127629 COSM3810158 rs555843012 |
2379 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6127628 rs747604384 |
2382 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1346891553 CA381452173 |
2382 | R>H | No |
ClinGen gnomAD |
|
|
rs1404708285 CA381452110 |
2384 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 2385 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748902909 CA6127625 |
2388 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6127624 rs779884581 |
2389 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA224073640 rs926587551 |
2391 | K>W | No |
ClinGen TOPMed |
2 associated diseases with O15020
[MIM: 600224]: Spinocerebellar ataxia 5 (SCA5)
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. {ECO:0000269|PubMed:16429157, ECO:0000269|PubMed:22914369}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615386]: Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. {ECO:0000269|PubMed:23236289, ECO:0000269|PubMed:23838597}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. {ECO:0000269|PubMed:16429157, ECO:0000269|PubMed:22914369}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. {ECO:0000269|PubMed:23236289, ECO:0000269|PubMed:23838597}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O15020
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O15020 | |||
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| parallel fiber to Purkinje cell synapse | An excitatory synapse formed by the parallel fibers of granule cells synapsing onto the dendrites of Purkinje cells. |
| paranodal junction | A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic spectrin-associated cytoskeleton | The portion of the spectrin-associated cytoskeleton contained within the postsynapse. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| spectrin | Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
| structural constituent of synapse | The action of a molecule that contributes to the structural integrity of a synapse. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament capping | The binding of a protein or protein complex to the end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits. |
| adult behavior | Behavior in a fully developed and mature organism. |
| cerebellar Purkinje cell layer morphogenesis | The process in which the anatomical structure of the cerebellar Purkinje cell layer is generated and organized. The Purkinje cell layer lies just underneath the molecular layer of the cerebellar cortex. It contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer. Candelabrum interneurons are vertically oriented between the Purkinje cells. Purkinje neurons are inhibitory and provide the output of the cerebellar cortex through axons that project into the white matter. Extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| postsynapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a postsynapse. |
| synapse assembly | The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P11277 | SPTB | Spectrin beta chain, erythrocytic | Homo sapiens (Human) | PR |
| Q01082 | SPTBN1 | Spectrin beta chain, non-erythrocytic 1 | Homo sapiens (Human) | PR |
| P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
| Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
| O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
| P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
| P15508 | Sptb | Spectrin beta chain, erythrocytic | Mus musculus (Mouse) | PR |
| Q62261 | Sptbn1 | Spectrin beta chain, non-erythrocytic 1 | Mus musculus (Mouse) | PR |
| Q9QWN8 | Sptbn2 | Spectrin beta chain, non-erythrocytic 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSTLSPTDF | DSLEIQGQYS | DINNRWDLPD | SDWDNDSSSA | RLFERSRIKA | LADEREAVQK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTFTKWVNSH | LARVTCRVGD | LYSDLRDGRN | LLRLLEVLSG | EILPKPTKGR | MRIHCLENVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KALQFLKEQK | VHLENMGSHD | IVDGNHRLTL | GLVWTIILRF | QIQDISVETE | DNKEKKSAKD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALLLWCQMKT | AGYPNVNVHN | FTTSWRDGLA | FNAIVHKHRP | DLLDFESLKK | CNAHYNLQNA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FNLAEKELGL | TKLLDPEDVN | VDQPDEKSII | TYVATYYHYF | SKMKALAVEG | KRIGKVLDHA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MEAERLVEKY | ESLASELLQW | IEQTIVTLND | RQLANSLSGV | QNQLQSFNSY | RTVEKPPKFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EKGNLEVLLF | TIQSKLRANN | QKVYTPREGR | LISDINKAWE | RLEKAEHERE | LALRTELIRQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EKLEQLAARF | DRKAAMRETW | LSENQRLVSQ | DNFGLELAAV | EAAVRKHEAI | ETDIVAYSGR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VQAVDAVAAE | LAAERYHDIK | RIAARQHNVA | RLWDFLRQMV | AARRERLLLN | LELQKVFQDL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LYLMDWMEEM | KGRLQSQDLG | RHLAGVEDLL | QLHELVEADI | AVQAERVRAV | SASALRFCNP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GKEYRPCDPQ | LVSERVAKLE | QSYEALCELA | AARRARLEES | RRLWRFLWEV | GEAEAWVREQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QHLLASADTG | RDLTGALRLL | NKHTALRGEM | SGRLGPLKLT | LEQGQQLVAE | GHPGASQASA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RAAELQAQWE | RLEALAEERA | QRLAQAASLY | QFQADANDME | AWLVDALRLV | SSPELGHDEF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| STQALARQHR | ALEEEIRSHR | PTLDALREQA | AALPPTLSRT | PEVQSRVPTL | ERHYEELQAR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AGERARALEA | ALALYTMLSE | AGACGLWVEE | KEQWLNGLAL | PERLEDLEVV | QQRFETLEPE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| MNTLAAQITA | VNDIAEQLLK | ANPPGKDRIV | NTQEQLNHRW | QQFRRLADGK | KAALTSALSI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QNYHLECTET | QAWMREKTKV | IESTQGLGND | LAGVLALQRK | LAGTERDLEA | IAARVGELTR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EANALAAGHP | AQAVAINARL | REVQTGWEDL | RATMRRREES | LGEARRLQDF | LRSLDDFQAW |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LGRTQTAVAS | EEGPATLPEA | EALLAQHAAL | RGEVERAQSE | YSRLRALGEE | VTRDQADPQC |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LFLRQRLEAL | GTGWEELGRM | WESRQGRLAQ | AHGFQGFLRD | ARQAEGVLSS | QEYVLSHTEM |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| PGTLQAADAA | IKKLEDFMST | MDANGERIHG | LLEAGRQLVS | EGNIHADKIR | EKADSIERRH |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| KKNQDAAQQF | LGRLRDNREQ | QHFLQDCHEL | KLWIDEKMLT | AQDVSYDEAR | NLHTKWQKHQ |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| AFMAELAANK | DWLDKVDKEG | RELTLEKPEL | KALVSEKLRD | LHRRWDELET | TTQAKARSLF |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| DANRAELFAQ | SCCALESWLE | SLQAQLHSDD | YGKDLTSVNI | LLKKQQMLEW | EMAVREKEVE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| AIQAQAKALA | QEDQGAGEVE | RTSRAVEEKF | RALCQPMRER | CRRLQASREQ | HQFHRDVEDE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| ILWVTERLPM | ASSMEHGKDL | PSVQLLMKKN | QTLQKEIQGH | EPRIADLRER | QRALGAAAAG |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| PELAELQEMW | KRLGHELELR | GKRLEDALRA | QQFYRDAAEA | EAWMGEQELH | MMGQEKAKDE |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LSAQAEVKKH | QVLEQALADY | AQTIHQLAAS | SQDMIDHEHP | ESTRISIRQA | QVDKLYAGLK |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| ELAGERRERL | QEHLRLCQLR | RELDDLEQWI | QEREVVAASH | ELGQDYEHVT | MLRDKFREFS |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| RDTSTIGQER | VDSANALANG | LIAGGHAARA | TVAEWKDSLN | EAWADLLELL | DTRGQVLAAA |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| YELQRFLHGA | RQALARVQHK | QQQLPDGTGR | DLNAAEALQR | RHCAYEHDIQ | ALSPQVQQVQ |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| DDGHRLQKAY | AGDKAEEIGR | HMQAVAEAWA | QLQGSSAARR | QLLLDTTDKF | RFFKAVRELM |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| LWMDEVNLQM | DAQERPRDVS | SADLVIKNQQ | GIKAEIEARA | DRFSSCIDMG | KELLARSHYA |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| AEEISEKLSQ | LQARRQETAE | KWQEKMDWLQ | LVLEVLVFGR | DAGMAEAWLC | SQEPLVRSAE |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| LGCTVDEVES | LIKRHEAFQK | SAVAWEERFC | ALEKLTALEE | REKERKRKRE | EEERRKQPPA |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| PEPTASVPPG | DLVGGQTASD | TTWDGTQPRP | PPSTQAPSVN | GVCTDGEPSQ | PLLGQQRLEH |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| SSFPEGPGPG | SGDEANGPRG | ERQTRTRGPA | PSAMPQSRST | ESAHAATLPP | RGPEPSAQEQ |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| MEGMLCRKQE | MEAFGKKAAN | RSWQNVYCVL | RRGSLGFYKD | AKAASAGVPY | HGEVPVSLAR |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| AQGSVAFDYR | KRKHVFKLGL | QDGKEYLFQA | KDEAEMSSWL | RVVNAAIATA | SSASGEPEEP |
| 2350 | 2360 | 2370 | 2380 | ||
| VVPSTTRGMT | RAMTMPPVSP | VGAEGPVVLR | SKDGRERERE | KRFSFFKKNK |