Table 2. The data of observed variations based on HGVS38 in coding sequence.
Transcript ID | RefSeq | Gene | Gene role | Variant | HGVS38 (Chromosomal variant) | HGVS38 (transcripts variant) | MAF | db SNP ID/ COSMIC ID |
---|---|---|---|---|---|---|---|---|
ENST00000311936.7 | NM_004985 | KRAS | OG | G12C | NC_000012.12:g.25245351C>T | NM_004985.4:c.34G>A | 1.976e-05 | rs121913530 |
ENST00000367922.7 | NM_001014796 | DDR2 | OG | Q808H | NC_000001.11:g.162778720A>C | NM_001014796.1:c.2424A>C | 0.0002393 | rs765660823 |
ENST00000269305.8 | NM_000546 | TP53 | TSG | D186G | NC_000017.11:g.7675055T>C | NM_000546.5:c.557A>G | NM. | COSM46287 |
H193R | NC_000017.11:g.7674953T>C | NM_000546.5:c.578A>G | NM. | rs786201838 | ||||
P222P | NC_000017.11:g.7674865C>T | NM_000546.5:c.666G>A | 6.748e-05 | rs72661118 | ||||
Q167Q | NC_000017.11:g.7675111C>T | NM_000546.5:c.501G>A | NM. | COSM44299 | ||||
V157F | NC_000017.11:g.7675143C>A | NM_000546.5:c.469G>T | 0.00006/7 | rs121912654 | ||||
F212L | NC_000017.11:g.7674897A>G | NM_000546.5:c.634T>C | NM. | COSM45477 | ||||
V147A | NC_000017.11:g.7675172A>G | NM_000546.5:c.440T>C | NM. | COSM45819 | ||||
T211T | NC_000017.11:g.7674898A>G | NM_000546.5:c.633T>C | NM. | COSM46211 |
OG: Oncogene, TSG: Tumor Suppressor Gene, MAF: Minor Allele Frequency, NM: Not Mention.