Table IV.
Case | Gene | Chromosome | Transcript | Exon | Nucleotide variation | Amino acid variation | Mutation frequency of tumor tissue (%) | Cosmid | Mutation frequency of preoperative plasma (%) | ALT-Depth | Depth | Mutation frequency of 1 month postoperative plasma (%) | ALT-Depth | Depth | Mutation frequency of 3 month postoperative plasma(%) | ALT-Depth | Depth | Mutation frequency of 5 mo postoperative plasma(%) | ALT-Depth | Depth |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H1001 | ERBB2 | chr17 | NM_004448 | exon21 | c.G2524A | p.V842I | 34.81 | COSM14065 | 1.26 | 35 | 2,787 | 0 | 0 | 0 | – | – | – | 0 | 0 | 0 |
H1001 | APC | chr5 | NM_000038 | exon6 | c.G568T | p.E190X | 32.16 | COSM258874 | 0.87 | 23 | 2,653 | 0 | 0 | 0 | – | – | – | 0 | 0 | 0 |
H1001 | TP53 | chr17 | NM_000546 | exon5 | c.G524A | p.R175H | 31.4 | COSM10648 | 1.02 | 16 | 1,575 | 0.46 | 5 | 1,081 | – | – | – | 0 | 0 | 0 |
H1001 | ERBB4 | chr2 | NM_005235 | exon28 | c.T3492A | p.N1164K | 26.48 | 1.03 | 33 | 3,215 | 0 | 0 | 0 | – | – | – | 0 | 0 | 0 | |
H1001 | KRAS | chr12 | NM_004985 | exon2 | c.G35A | p.G12D | 25.66 | COSM521 | 0.44 | 10 | 2,254 | 0 | 0 | 0 | – | – | – | 0 | 0 | 0 |
H1002 | TP53 | chr17 | NM_000546 | exon8 | c.G818A | p.R273H | 81.35 | COSM10660 | 0 | 0 | 0 | 0 | 0 | 0 | 0.13 | 3 | 2,352 | 0 | 0 | 0 |
H1002 | APC | chr5 | NM_000038 | exon16 | c.G4222T | p.E1408X | 80.49 | COSM18822 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1002 | APC | chr5 | NM_000038 | exon16 | c.T2735A | p.L912X | 78.89 | COSM4167198 | 0 | 0 | 0 | 0.26 | 2 | 768 | 0 | 0 | 0 | 0 | 0 | 0 |
H1003 | TP53 | chr17 | NM_000546 | exon8 | c.A857G | p.E286G | 61.08 | COSM43565 | 8.95 | 233 | 2,602 | 11.32 | 124 | 1,100 | 42.39 | 993 | 2,342 | 71.4 | 1,990 | 2,787 |
H1003 | MLH3 | chr14 | NM_014381 | exon2 | c.G1163A | p.S388N | 7.23 | 0.11 | 3 | 2,790 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1003 | KMT2D | chr12 | NM_003482 | exon31 | c.G7489A | p.A2497T | 5.17 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1003 | PIK3CA | chr3 | NM_006218 | exon9 | c.G1624A | p.E542K | 0 | COSM760 | 0 | 0 | 0 | 0 | 0 | 0 | 12.66 | 195 | 1,542 | 19.96 | 505 | 2,532 |
H1003 | APC | chr5 | NM_000038 | exon6 | c.617delC | p.T206fs | 68.83 | 8.58 | 159 | 1,854 | 15.69 | 96 | 612 | 0 | 0 | 0 | 76.53 | 2,045 | 2,672 | |
H1003 | PTEN | chr10 | NM_001304717 | exon1 | c.19_21del | p.7_7del | 5.76 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1004 | CTNNB1 | chr3 | NM_001904 | exon3 | c.A121G | p.T41A | 65.85 | COSM5664 | 0.27 | 9 | 3,292 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1004 | BRCA2 | chr13 | NM_000059 | exon10 | c.A832G | p.S278G | 33.18 | 0.22 | 6 | 2,735 | 0.53 | 6 | 1,125 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1004 | PIK3CA | chr3 | NM_006218 | exon2 | c.A331G | p.K111E | 31.66 | COSM13570 | 0.81 | 25 | 3,076 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1004 | KRAS | chr12 | NM_004985 | exon2 | c.G38A | p.G13D | 30.32 | COSM532 | 1 | 19 | 1,897 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1004 | BRCA2 | chr13 | NM_000059 | exon13 | c.C7006T | p.R2336C | 30.17 | COSM432312 | 0.56 | 15 | 2,702 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1004 | FZR1 | chr19 | NM_016263 | exon7 | c.C542T | p.A181V | 28.37 | 0.33 | 9 | 2,733 | 0.21 | 2 | 937 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1004 | SLIT1 | chr10 | NM_003061 | exon11 | c.G1054A | p.A352T | 27.5 | 0 | 0 | 0 | 0 | 0 | 0 | 0.27 | 2 | 740 | 0 | 0 | 0 | |
H1004 | CYP19A1 | chr15 | NM_000103 | exon10 | c.C1285T | p.P429S | 27.34 | 0.41 | 10 | 2,458 | 0.34 | 4 | 1,178 | 0.52 | 6 | 1,163 | 0 | 0 | 0 | |
H1004 | KMT2D | chr12 | NM_003482 | exon11 | c.C3868T | p.R1290W | 22.82 | COSM4042398 | 0.59 | 12 | 2,031 | 0 | 0 | 0 | 0.22 | 2 | 913 | 0 | 0 | 0 |
H1004 | KMT2B | chr19 | NM_014727 | exon28 | c.T6737G | p.V2246G | 7.95 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1004 | KMT2B | chr19 | NM_014727 | exon28 | c.T6746G | p.V2249G | 5.39 | 0.51 | 3 | 587 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1004 | ARID1A | chr1 | NM_006015 | exon1 | c.433delC | p.P145fs | 25.28 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1004 | AKAP9 | chr7 | NM_005751 | exon19 | c.5010_5013del | p.G1670fs | 22.1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1005 | EPCAM | chr2 | NM_002354 | exon1 | c.T25G | p.F9V | 6.32 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | – | – | – | |
H1006 | RB1 | chr13 | NM_000321 | exon1 | c.A13C | p.T5P | 10.03 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1006 | KMT2B | chr19 | NM_014727 | exon28 | c.T6746G | p.V2249G | 5.22 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1006 | ARID1A | chr1 | NM_006015 | exon1 | c.A653C | p.N218T | 5.07 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1006 | APC | chr5 | NM_000038 | exon16 | c.4217_4218del | p.Q1406fs | 49.86 | COSM5007948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1006 | TP53 | chr17 | NM_000546 | exon7 | c.749_756del | p.P250fs | 36.1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1007 | SMAD4 | chr18 | NM_005359 | exon9 | c.G988C | p.E330Q | 41.96 | COSM14240 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1007 | TP53 | chr17 | NM_000546 | exon5 | c.G473A | p.R158H | 40.38 | COSM10690 | 0.21 | 2 | 972 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1007 | PIK3CA | chr3 | NM_006218 | exon5 | c.A1034T | p.N345I | 34.47 | COSM94978 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.48 | 5 | 1,058 |
H1007 | FBXW7 | chr4 | NM_018315 | exon8 | c.C1018T | p.H340Y | 32.41 | COSM28798 | 0.28 | 3 | 1,086 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1007 | KRAS | chr12 | NM_004985 | exon2 | c.G35T | p.G12V | 26.5 | COSM520 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1007 | CDH1 | chr16 | NM_004360 | exon9 | c.G1259A | p.G420D | 18.71 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1007 | ATM | chr11 | NM_000051 | exon17 | c.T2570G | p.L857R | 14.45 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1007 | SMAD2 | chr18 | NM_005901 | exon9 | c.1009_1024del | p.R337fs | 29.56 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1008 | KRAS | chr12 | NM_004985 | exon3 | c.A183T | p.Q61H | 79.42 | COSM555 | 3.26 | 52 | 1,593 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1008 | SMAD4 | chr18 | NM_005359 | exon12 | c.T1619G | p.L540R | 68.95 | COSM14165 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1008 | UGT1A1 | chr2 | NM_000463 | exon1 | c.G323A | p.R108H | 36.8 | COSM1018132 | 0.46 | 7 | 1,508 | 0.2 | 4 | 1,992 | 0.17 | 3 | 1,756 | 0 | 0 | 0 |
H1008 | ATIC | chr2 | NM_004044 | exon6 | c.G515A | p.R172H | 18.27 | COSM1183927 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1009 | KRAS | chr12 | NM_004985 | exon2 | c.G35A | p.G12D | 33.98 | COSM521 | 0.54 | 3 | 553 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1009 | RB1 | chr13 | NM_000321 | exon1 | c.A13C | p.T5P | 7.94 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1009 | ARID1A | chr1 | NM_006015 | exon1 | c.A317C | p.N106T | 6.77 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1009 | MSH6 | chr2 | NM_000179 | exon1 | c.A256C | p.T86P | 5.56 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1009 | ARID1A | chr1 | NM_006015 | exon20 | c.5125_5131del | p.L1709fs | 21.35 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1010 | KMT2B | chr19 | NM_014727 | exon1 | c.T266G | p.V89G | 7.46 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1010 | KMT2B | chr19 | NM_014727 | exon28 | c.T6746G | p.V2249G | 6.78 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1010 | KMT2D | chr12 | NM_003482 | exon11 | c.T2987G | p.V996G | 5.41 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1010 | TP53 | chr17 | NM_000546 | exon7 | c.715_720del | p.239_240del | 11.72 | COSM45055 | 0 | 0 | 0 | 0 | 0 | 0 | 0.19 | 3 | 1,624 | 0 | 0 | 0 |
H1010 | APC | chr5 | NM_000038 | exon16 | c.2025delA | p.T675fs | 7.35 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | TP53 | chr17 | NM_000546 | exon8 | c.C844T | p.R282W | 43.17 | COSM10704 | 0.39 | 6 | 1,533 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1011 | PIK3CA | chr3 | NM_006218 | exon5 | c.T1035A | p.N345K | 40.51 | COSM754 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1011 | RB1 | chr13 | NM_000321 | exon1 | c.A13C | p.T5P | 8.73 | 9.42 | 13 | 138 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | TP53 | chr17 | NM_000546 | exon5 | c.G404A | p.C135Y | 8.28 | COSM10801 | 0.19 | 3 | 1,548 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1011 | KMT2B | chr19 | NM_014727 | exon1 | c.T248G | p.L83R | 7.96 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | KMT2B | chr19 | NM_014727 | exon28 | c.T6746G | p.V2249G | 7.06 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | ERBB2 | chr17 | NM_004448 | exon1 | c.T25G | p.W9G | 6.37 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | KMT2B | chr19 | NM_014727 | exon28 | c.T6737G | p.V2246G | 5.67 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | CREBBP | chr16 | NM_004380 | exon30 | c.A4931C | p.N1644T | 5.61 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | APC | chr5 | NM_000038 | exon16 | c.G4057T | p.E1353X | 5.57 | COSM19048 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
H1011 | PTCH1 | chr9 | NM_000264 | exon1 | c.A26C | p.E9A | 5.41 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | PTPRK | chr6 | NM_002844 | exon15 | c.C2432T | p.T811I | 5.39 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | TYMP | chr22 | NM_001953 | exon8 | c.T941G | p.L314R | 5.31 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | RB1 | chr13 | NM_000321 | exon1 | c.A24C | p.K8N | 5.29 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
H1011 | TYMP | chr22 | NM_001953 | exon9 | c.T1175G | p.V392G | 5.22 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
ALT, alteration.