Table 3 cfDNA somatic SNVs detected longitudinally by NGS analysis
Patient ID | Gene | Chromosomal location | Position (hg38) | nt change | AA change | Type of change | COSMIC ID | cfDNA amount (MAF %) | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
T0 | T1 | T2 | P | ||||||||
1 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 1.1 | UD | ND | UD |
3 | ADAMTS18 | 16q23.1 | 77364300 | G > A | G115E | Nonsynonymous | COSM142238 | 34.8 | UD | ND | 23.6 |
BRAF | 7q34 | 140753336-140753337 | DelinsAA | V600K | Nonsynonymous | COSM473 | 67.6 | UD | ND | 44.9 | |
FBXW7 | 4q31.3 | 152328233 | C > T | R465Ca | Nonsynonymous | COSM22932 | 16.3 | UD | ND | 9.7 | |
PREX2 | 8q13.2 | 68138502 | G > A | E1358K | Nonsynonymous | COSM3650517 | 26.4 | UD | ND | 18.3 | |
PTEN | 10q23.31 | 87957958 | T > G | L247*a | Stopgain | COSM3736942 | 52.0 | UD | ND | 25.1 | |
6 | ABL1 | 9q34.12 | 130854948 | G > A | R153H | Nonsynonymous | COSM6934804 | 1.1 | UD | UD | UD |
BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | UD | UD | UD | 6.6 | |
RET | 10q11.21 | 43124939 | C > T | A999V | Nonsynonymous | COSM6240510 | 1.1 | UD | UD | UD | |
SF3B1 | 2q33.1 | 197409962 | C > T | R238Cb | Nonsynonymous | COSM4506189 | UD | UD | UD | 1.3 | |
SF3B1 | 2q33.1 | 197418534 | G > A | R157Q | Nonsynonymous | COSM4983074 | 1.3 | UD | UD | UD | |
8 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 17.1 | UD | UD | ND |
CTNNB1 | 3p22.1 | 41224633 | A > G | T41A | Nonsynonymous | COSM5664 | 6.3 | UD | UD | ND | |
9 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 8.3 | UD | UD | 4.6 |
EGFR | 7p11.2 | 55200385 | G > A | R920Q | Nonsynonymous | COSM7338932 | UD | UD | 0.9 | UD | |
EIF1AX | Xp22.12 | 20138617 | G > A | G8R | Nonsynonymous | COSM3372215 | 6.0 | UD | UD | 2.6 | |
NRAS | 1p13.2 | 114713908 | A > T | Q61Lb | Nonsynonymous | COSM583 | UD | UD | UD | 3.6 | |
12 | ARID2 | 12q12 | 45850473 | C > T | P784S | Nonsynonymous | COSM5413317 | 14.7 | UD | UD | NA |
BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 18.2 | UD | UD | NA | |
13 | ATM | 11q22.3 | 108330374 | C > T | L2490F | Nonsynonymous | COSM327924 | 26.1 | NA | NA | 35.5 |
BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 20.6 | NA | NA | 73.1 | |
MEK1 | 15q22.31 | 66436825 | C > T | P124La | Nonsynonymous | COSM1315861 | 23.7 | NA | NA | 27.7 | |
17 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 25.7 | NA | NA | UD |
PLCB4 | 20p12.3-p12.2 | 9338047 | C > T | R69W | Nonsynonymous | COSM2933898 | 31.8 | NA | NA | UD | |
19 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 24.7 | NA | NA | 42.5 |
ERBB4 | 2q34 | 211383947 | G > A | E1199K | Nonsynonymous | COSM4764537 | 11.1 | NA | NA | 9.4 | |
GNA11 | 19p13.3 | 3118944 | A > T | Q209Lb | Nonsynonymous | COSM52969 | UD | NA | NA | 1.2 | |
GRIN2A | 16p13.2 | 10180321 | C > T | P31S | Nonsynonymous | COSM2141702 | 14.5 | NA | NA | 21.8 | |
KIT | 4q12 | 54698386 | C > T | S147F | Nonsynonymous | COSM5904789 | 15.7 | NA | NA | 20.7 | |
MEK1 | 15q22.31 | 66436825 | C > T | P124La | Nonsynonymous | COSM1315861 | 17.6 | NA | NA | 21.5 | |
ROS1 | 6q22.1 | 117385697 | G > A | G764R | Nonsynonymous | COSM3157846 | 16.7 | NA | NA | 16.4 | |
27 | BRAF | 7q34 | 140734632 | C > T | Q756* | Stopgain | COSM9746164 | UD | 6.8 | UD | 6.0 |
BRAF | 7q34 | 140753336-140753337 | DelinsAA | V600K | Nonsynonymous | COSM473 | 5.0 | 11.2 | UD | 71.5 | |
CTNNB1 | 3p22.1 | 41234178 | G > A | A522T | Nonsynonymous | COSM3408665 | UD | UD | 0.8 | UD | |
GRIN2A | 16p13.2 | 9890991 | G > A | E373K | Nonsynonymous | COSM6918809 | 2.9 | 3.7 | UD | 16.2 | |
KRAS | 12p12.1 | 25245350 | G > C | G12Ab | Nonsynonymous | COSM522 | UD | UD | UD | 9.5 | |
PLCB4 | 20p12.3-p12.2 | 9468572 | G > A | E1084K | Nonsynonymous | COSM3549595 | 4.4 | 5.8 | UD | 17.0 | |
PREX2 | 8q13.2 | 68083252 | G > A | E631K | Nonsynonymous | COSM9876557 | 2.1 | 7.2 | UD | 17.0 | |
PREX2 | 8q13.2 | 68115889 | G > A | E1095K | Nonsynonymous | COSM3650510 | 4.0 | 7.6 | UD | 19.4 | |
RAC1 | 7p22.1 | 6387261 | C > T | P29Sa | Nonsynonymous | COSM125734 | 2.4 | 6.5 | UD | 18.3 | |
RET | 10q11.21 | 43114714 | C > T | S705F | Nonsynonymous | COSM6932233 | 3.7 | 3.4 | UD | 13.1 | |
28 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 40.2 | UD | NA | 97.7 |
CTNNB1 | 3p22.1 | 41234178 | G > A | A522T | Nonsynonymous | COSM3408665 | UD | 1.1 | NA | UD | |
PIK3CA | 3q26.32 | 179203761 | T > G | V344G | Nonsynonymous | COSM22540 | 2.0 | UD | NA | UD | |
PIK3CA | 3q26.32 | 179218294 | G > A | E542K | Nonsynonymous | COSM760 | 1.0 | UD | NA | 12.5 | |
PIK3CA | 3q26.32 | 179218303 | G > A | E545K | Nonsynonymous | COSM763 | 6.7 | UD | NA | UD | |
PREX2 | 8q13.2 | 68192524 | C > T | R1535W | Nonsynonymous | COSM340299 | 33.7 | UD | NA | 37.8 | |
48 | ERBB4 | 2q34 | 211702093 | G > A | A455T | Nonsynonymous | COSM7344043 | 5.1 | 2.2 | NA | 2.3 |
PPP6C | 9q33.3 | 125158280 | C > T | H151Yb | Nonsynonymous | COSM23144 | UD | UD | NA | 0.8 | |
RET | 10q11.21 | 43124939 | C > T | A999V | Nonsynonymous | COSM6240510 | 1.1 | UD | NA | UD | |
49 | BRAF | 7q34 | 140753336 | T > A | V600E | Nonsynonymous | COSM476 | 41.9 | NA | NA | ND |
MET | 7q31 | 116769777 | G > A | E906K | Nonsynonymous | COSM5576816 | 20.0 | NA | NA | ND | |
TP53 | 17p13.1 | 7674241 | C > T | S241F | Nonsynonymous | COSM10812 | 44.5 | NA | NA | ND | |
