Summary of targeted driver mutations for ctDNA detection
| UPN . | Gene . | Amino acid change . | Chromosome . | Position . | Reference allele . | Variant allele . | COSMIC ID . | PolyPhen-2 (score) . | SIFT (score) . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | DNMT3A | R882H | 2 | 25457242 | C | T | COSM52944 | Possibly damaging (0.651) | Deleterious (0.03) |
| 2 | STAG2 | S633fs | X | 123197775 | CTAAAACTTAC | — | — | — | — |
| 3 | SRSF2 | P95H | 17 | 74732959 | G | T | COSM211504 | Probably damaging (1) | Deleterious (0.02) |
| 4 | SF3B1 | K700E | 2 | 198266834 | T | C | COSM84677 | Probably damaging (1) | Deleterious (0) |
| 5 | WT1 | R380fs | 11 | 32417912 | — | GTACAAGAGT | — | — | — |
| 6 | SH2B3 | E288fs | 12 | 111884773 | — | C | — | — | — |
| 7 | NRAS | G12D | 1 | 115258747 | C | T | COSM564 | Benign (0.372) | Deleterious (0) |
| 7 | GATA2 | A364T | 3 | 128200715 | C | T | — | Possibly damaging (0.751) | Deleterious (0.04) |
| 8 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 8 | DNMT3A | W795X | 2 | 25462022 | C | T | — | — | Tolerated (1) |
| 9 | CEBPA | P23fs | 19 | 33793252 | C | CG | COSM18922 | — | — |
| 10 | SF3B1 | K700E | 2 | 198266834 | T | C | COSM84677 | Probably damaging (1) | Deleterious (0) |
| 11 | IDH1 | R132C | 2 | 209113113 | G | A | COSM28747 | Benign (0.259) | Deleterious (0) |
| 12 | TP53 | R175H | 17 | 7578406 | C | T | COSM3355994 | Probably damaging (1) | Deleterious (0) |
| 13 | U2AF1 | S34F | 21 | 44524456 | G | A | COSM166866 | Probably damaging (1) | Deleterious (0) |
| 14 | U2AF1 | S34F | 21 | 44524456 | G | A | COSM166866 | Probably damaging (1) | Deleterious (0) |
| 14 | BCORL1 | R1299X | X | 129159171 | C | T | — | — | Tolerated (0.73) |
| 14 | GATA2 | L321H | 3 | 128202758 | A | T | COSM255200 | Probably damaging (1) | Deleterious (0) |
| 15 | IDH2 | R140Q | 15 | 90631934 | C | T | COSM41590 | Probably damaging (1) | Deleterious (0) |
| 15 | DNMT3A | R882C | 2 | 25457243 | G | A | COSM53042 | Probably damaging (1) | Deleterious (0) |
| 15 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 16 | GATA2 | E387-M391del | 3 | 128200133 | TCCTTCTTCATGG | T | — | — | — |
| 17 | FLT3 | D600delinsDFYVDFREYEYD | 13 | 28608256 | — | TCATATTCATATTCTCTGAAATCAACGTAGAAG | — | — | — |
| 17 | DNMT3A | R882C | 2 | 25457243 | G | A | COSM53042 | Probably damaging (1) | Deleterious (0) |
| 18 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 18 | MYC | P75T | 8 | 128750686 | C | A | COSM3316884 | Probably damaging (1) | Deleterious (0) |
| 19 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 20 | NRAS | G12D | 1 | 115258747 | C | T | COSM564 | Benign (0.372) | Deleterious (0) |
| 21 | TP53 | R337C | 17 | 7574018 | G | A | COSM117591 | Possibly damaging (0.696) | Deleterious (0) |
| 22 | TP53 | R158G | 17 | 7578458 | G | C | COSM318151 | Probably damaging (1) | Deleterious (0) |
| 22 | TP53 | E11Q | 17 | 7579882 | C | G | COSM327260 | Probably damaging (0.999) | Deleterious (0.03) |
| 23 | SF3B1 | K700E | 2 | 198266834 | T | C | COSM84677 | Probably damaging (1) | Deleterious (0) |
| 24 | U2AF1 | Q84P | 21 | 44514777 | T | G | COSM1318797 | Possibly damaging (0.701) | Deleterious (0) |
| 25 | ATRX | N228fs | X | 76940064 | GT | G | — | — | — |
| 25 | SETBP1 | L227fs | 18 | 42456669 | T | TTCTT | — | — | — |
| 26 | CEBPA | P197delinsHPP | 19 | 33792731 | G | GGCGGGT | — | — | — |
| 27 | DDX41 | C264Y | 5 | 176939370 | C | T | — | Probably damaging (0.999) | Deleterious (0) |
| 28 | ASXL1 | G642fs | 20 | 31033441 | A | AG | COSM1411076 | — | — |
| 29 | DNMT3A | R882H | 2 | 25457242 | C | T | COSM52944 | Possibly damaging (0.651) | Deleterious (0.03) |
| 29 | RUNX1 | S436fs | 21 | 36164567 | G | GT | — | — | — |
| 30 | NRAS | G12D | 1 | 115258747 | C | T | COSM564 | Benign (0.372) | Deleterious (0) |
| 30 | U2AF1 | S34F | 21 | 44524456 | G | A | COSM166866 | Probably damaging (1) | Deleterious (0) |
| 31 | CEBPA | V314delinsKV | 19 | 33792381 | C | CCTT | COSM18099 | — | — |
| 32 | NRAS | G13D | 1 | 115258744 | C | A | COSM573 | Benign (0.434) | Deleterious (0.03) |
| 33 | SH2B3 | W364X | 12 | 111885203 | G | A | — | — | Tolerated (1) |
| 34 | ASXL1 | L1009fs | 20 | 31023541 | — | ACGG | — | — | — |
| 35 | TET2 | M1749fs | 4 | 106196913 | TG | T | — | — | — |
| 35 | SF3B1 | R625C | 2 | 198267484 | G | A | COSM110696 | Probably damaging (1) | Deleterious (0) |
| 36 | ASXL1 | K1034X | 20 | 31023615 | A | T | — | — | Tolerated (1) |
| 37 | KIT | D816H | 4 | 55599320 | G | C | COSM1311 | Possibly damaging (0.842) | Deleterious (0.01) |
| 38 | PTPN11 | G60V | 12 | 112888163 | G | T | COSM13028 | Probably damaging (1) | Deleterious (0) |
| 39 | ETV6 | R418G | 12 | 12038959 | A | G | COSM1318051 | Probably damaging (1) | Deleterious (0) |
| 39 | RAD21 | H261fs | 8 | 117868917 | T | TA | — | — | — |
| 40 | CSF3R | K812X | 1 | 36932116 | T | A | COSM6022453 | — | Tolerated (0.3) |
| 40 | CSF3R | T618I | 1 | 36933434 | G | A | COSM1737962 | Probably damaging (1) | Tolerated (0.06) |
| 40 | DNMT3A | R882H | 2 | 25457242 | C | T | COSM52944 | Possibly damaging (0.651) | Deleterious (0.03) |
| 41 | CTCF | G111E | 16 | 67645067 | G | A | — | Probably damaging (1) | Tolerated (0.1) |
| 42 | TP53 | R174X | 17 | 7578212 | G | A | COSM99618 | — | Tolerated (1) |
| 43 | ETNK1 | T139P | 12 | 22778512 | A | C | — | Probably damaging (0.962) | Tolerated (0.16) |
| 44 | SRSF2 | P95L | 17 | 74732959 | G | A | COSM146288 | Possibly damaging (0.753) | Tolerated (0.1) |
| 45 | KMT2D | S2592fs | 12 | 49433779 | T | — | — | — | — |
| 46 | DNMT3A | R882S | 2 | 25457243 | G | T | COSM87001 | Probably damaging (0.993) | Deleterious (0) |
| 47 | BCOR | Q1396fs | X | 39921532 | G | — | — | — | — |
| 48 | TP53 | A150V | 17 | 7578283 | G | A | COSM44349 | Probably damaging (0.998) | Deleterious (0.03) |
| 48 | WT1 | R130Q | 11 | 32417913 | C | T | COSM28974 | Probably damaging (0.995) | Tolerated (0.12) |
| 49 | XPO7 | M751T | 8 | 21853017 | T | C | — | Benign (0) | Tolerated (0.56) |
| 49 | KMT2D | Q4221_L4222del | 12 | 49425824 | GCT | — | — | — | — |
| 50 | FLT3 | D835Y | 13 | 28592642 | C | A | COSM783 | Probably damaging (0.999) | Deleterious (0) |
| 51 | ASXL1 | V841fs | 20 | 31023038 | A | — | — | — | — |
| UPN . | Gene . | Amino acid change . | Chromosome . | Position . | Reference allele . | Variant allele . | COSMIC ID . | PolyPhen-2 (score) . | SIFT (score) . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | DNMT3A | R882H | 2 | 25457242 | C | T | COSM52944 | Possibly damaging (0.651) | Deleterious (0.03) |
| 2 | STAG2 | S633fs | X | 123197775 | CTAAAACTTAC | — | — | — | — |
| 3 | SRSF2 | P95H | 17 | 74732959 | G | T | COSM211504 | Probably damaging (1) | Deleterious (0.02) |
| 4 | SF3B1 | K700E | 2 | 198266834 | T | C | COSM84677 | Probably damaging (1) | Deleterious (0) |
| 5 | WT1 | R380fs | 11 | 32417912 | — | GTACAAGAGT | — | — | — |
| 6 | SH2B3 | E288fs | 12 | 111884773 | — | C | — | — | — |
| 7 | NRAS | G12D | 1 | 115258747 | C | T | COSM564 | Benign (0.372) | Deleterious (0) |
| 7 | GATA2 | A364T | 3 | 128200715 | C | T | — | Possibly damaging (0.751) | Deleterious (0.04) |
| 8 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 8 | DNMT3A | W795X | 2 | 25462022 | C | T | — | — | Tolerated (1) |
| 9 | CEBPA | P23fs | 19 | 33793252 | C | CG | COSM18922 | — | — |
| 10 | SF3B1 | K700E | 2 | 198266834 | T | C | COSM84677 | Probably damaging (1) | Deleterious (0) |
| 11 | IDH1 | R132C | 2 | 209113113 | G | A | COSM28747 | Benign (0.259) | Deleterious (0) |
| 12 | TP53 | R175H | 17 | 7578406 | C | T | COSM3355994 | Probably damaging (1) | Deleterious (0) |
| 13 | U2AF1 | S34F | 21 | 44524456 | G | A | COSM166866 | Probably damaging (1) | Deleterious (0) |
| 14 | U2AF1 | S34F | 21 | 44524456 | G | A | COSM166866 | Probably damaging (1) | Deleterious (0) |
| 14 | BCORL1 | R1299X | X | 129159171 | C | T | — | — | Tolerated (0.73) |
| 14 | GATA2 | L321H | 3 | 128202758 | A | T | COSM255200 | Probably damaging (1) | Deleterious (0) |
| 15 | IDH2 | R140Q | 15 | 90631934 | C | T | COSM41590 | Probably damaging (1) | Deleterious (0) |
| 15 | DNMT3A | R882C | 2 | 25457243 | G | A | COSM53042 | Probably damaging (1) | Deleterious (0) |
| 15 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 16 | GATA2 | E387-M391del | 3 | 128200133 | TCCTTCTTCATGG | T | — | — | — |
| 17 | FLT3 | D600delinsDFYVDFREYEYD | 13 | 28608256 | — | TCATATTCATATTCTCTGAAATCAACGTAGAAG | — | — | — |
| 17 | DNMT3A | R882C | 2 | 25457243 | G | A | COSM53042 | Probably damaging (1) | Deleterious (0) |
| 18 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 18 | MYC | P75T | 8 | 128750686 | C | A | COSM3316884 | Probably damaging (1) | Deleterious (0) |
| 19 | NPM1 | L287fs | 5 | 170837543 | C | CTCTG | COSM158604 | — | — |
| 20 | NRAS | G12D | 1 | 115258747 | C | T | COSM564 | Benign (0.372) | Deleterious (0) |
| 21 | TP53 | R337C | 17 | 7574018 | G | A | COSM117591 | Possibly damaging (0.696) | Deleterious (0) |
| 22 | TP53 | R158G | 17 | 7578458 | G | C | COSM318151 | Probably damaging (1) | Deleterious (0) |
| 22 | TP53 | E11Q | 17 | 7579882 | C | G | COSM327260 | Probably damaging (0.999) | Deleterious (0.03) |
| 23 | SF3B1 | K700E | 2 | 198266834 | T | C | COSM84677 | Probably damaging (1) | Deleterious (0) |
| 24 | U2AF1 | Q84P | 21 | 44514777 | T | G | COSM1318797 | Possibly damaging (0.701) | Deleterious (0) |
| 25 | ATRX | N228fs | X | 76940064 | GT | G | — | — | — |
| 25 | SETBP1 | L227fs | 18 | 42456669 | T | TTCTT | — | — | — |
| 26 | CEBPA | P197delinsHPP | 19 | 33792731 | G | GGCGGGT | — | — | — |
| 27 | DDX41 | C264Y | 5 | 176939370 | C | T | — | Probably damaging (0.999) | Deleterious (0) |
| 28 | ASXL1 | G642fs | 20 | 31033441 | A | AG | COSM1411076 | — | — |
| 29 | DNMT3A | R882H | 2 | 25457242 | C | T | COSM52944 | Possibly damaging (0.651) | Deleterious (0.03) |
| 29 | RUNX1 | S436fs | 21 | 36164567 | G | GT | — | — | — |
| 30 | NRAS | G12D | 1 | 115258747 | C | T | COSM564 | Benign (0.372) | Deleterious (0) |
| 30 | U2AF1 | S34F | 21 | 44524456 | G | A | COSM166866 | Probably damaging (1) | Deleterious (0) |
| 31 | CEBPA | V314delinsKV | 19 | 33792381 | C | CCTT | COSM18099 | — | — |
| 32 | NRAS | G13D | 1 | 115258744 | C | A | COSM573 | Benign (0.434) | Deleterious (0.03) |
| 33 | SH2B3 | W364X | 12 | 111885203 | G | A | — | — | Tolerated (1) |
| 34 | ASXL1 | L1009fs | 20 | 31023541 | — | ACGG | — | — | — |
| 35 | TET2 | M1749fs | 4 | 106196913 | TG | T | — | — | — |
| 35 | SF3B1 | R625C | 2 | 198267484 | G | A | COSM110696 | Probably damaging (1) | Deleterious (0) |
| 36 | ASXL1 | K1034X | 20 | 31023615 | A | T | — | — | Tolerated (1) |
| 37 | KIT | D816H | 4 | 55599320 | G | C | COSM1311 | Possibly damaging (0.842) | Deleterious (0.01) |
| 38 | PTPN11 | G60V | 12 | 112888163 | G | T | COSM13028 | Probably damaging (1) | Deleterious (0) |
| 39 | ETV6 | R418G | 12 | 12038959 | A | G | COSM1318051 | Probably damaging (1) | Deleterious (0) |
| 39 | RAD21 | H261fs | 8 | 117868917 | T | TA | — | — | — |
| 40 | CSF3R | K812X | 1 | 36932116 | T | A | COSM6022453 | — | Tolerated (0.3) |
| 40 | CSF3R | T618I | 1 | 36933434 | G | A | COSM1737962 | Probably damaging (1) | Tolerated (0.06) |
| 40 | DNMT3A | R882H | 2 | 25457242 | C | T | COSM52944 | Possibly damaging (0.651) | Deleterious (0.03) |
| 41 | CTCF | G111E | 16 | 67645067 | G | A | — | Probably damaging (1) | Tolerated (0.1) |
| 42 | TP53 | R174X | 17 | 7578212 | G | A | COSM99618 | — | Tolerated (1) |
| 43 | ETNK1 | T139P | 12 | 22778512 | A | C | — | Probably damaging (0.962) | Tolerated (0.16) |
| 44 | SRSF2 | P95L | 17 | 74732959 | G | A | COSM146288 | Possibly damaging (0.753) | Tolerated (0.1) |
| 45 | KMT2D | S2592fs | 12 | 49433779 | T | — | — | — | — |
| 46 | DNMT3A | R882S | 2 | 25457243 | G | T | COSM87001 | Probably damaging (0.993) | Deleterious (0) |
| 47 | BCOR | Q1396fs | X | 39921532 | G | — | — | — | — |
| 48 | TP53 | A150V | 17 | 7578283 | G | A | COSM44349 | Probably damaging (0.998) | Deleterious (0.03) |
| 48 | WT1 | R130Q | 11 | 32417913 | C | T | COSM28974 | Probably damaging (0.995) | Tolerated (0.12) |
| 49 | XPO7 | M751T | 8 | 21853017 | T | C | — | Benign (0) | Tolerated (0.56) |
| 49 | KMT2D | Q4221_L4222del | 12 | 49425824 | GCT | — | — | — | — |
| 50 | FLT3 | D835Y | 13 | 28592642 | C | A | COSM783 | Probably damaging (0.999) | Deleterious (0) |
| 51 | ASXL1 | V841fs | 20 | 31023038 | A | — | — | — | — |
—, not applicable; COSMIC ID, Catalogue Of Somatic Mutations In Cancer identifier; PolyPhen-2, Polymorphism Phenotyping v2; SIFT, Sorting Intolerant From Tolerant; UPN, unique patient number.