Table 2. Variations from exome sequencing data validated by Sanger sequencing.
| Sr. No | Gene name | Mutation | Amino acid change | Variation Type | Nature of variation | COSMIC overlap | Importance | Domain |
|---|---|---|---|---|---|---|---|---|
| 1. | FGF7 | tAc/tGc | Y76C | Missense | Somatic | No | MAPKinase signaling pathway; pathways in cancer | FGF domain |
| 2. | TGFBR2 | Cag/Tag | Q220* | Stop gain | Somatic | No | MAPKinase pathway; pathways in cancer | |
| 3. | TAF5 | Gag/Cag | E383Q | Missense | Somatic | No | Basal transcription factor | |
| 4. | MAP3K3 | Gag/Aag | E645K | Missense | Somatic | No | MAPKinase pathway | |
| 5. | DIDO1 | tCg/tTg | R303Q | Missense | Somatic | Yes | Involved in apoptosis | PHD Zinc finger domain |
| 6. | DIDO1 | ctC/ctG | E301Q | Missense | Somatic | No | Involved in apoptosis | PHD Zinc finger domain |
| 7. | SOS2 | tGa/tAa | S1049L | Missense | Somatic | No | MAPKinase pathway; pathways in cancer. | |
| 8. | RASA1 | tGg/tAg | W490* | Stop gain | Somatic | No | MAPKinase pathway | PH domain |
| 9. | EP300 | Gat/Aat | D1399N | Missense | Somatic | Yes (stomach and cervix) | Signaling pathway; Play a role in epithelial cancer | |
| 10. | RNF111 | Cag/Tag | Q605* | Stop gain | Somatic | Yes (acute myeloid leukaemia) | Regulation of transcription | |
| 11. | COL15A1 | Gga/Tga | G990* | Stop gain | Somatic | No | Signal transduction; Role in angiogenesis | |
| 12. | NCOR2 | aCc/aAc | G1289V | Missense | Somatic | No | Notch signaling pathway | |
| 13. | EDNRB | Caa/Gaa | L233F | Missense | Somatic | No | Regulation of transcription; phospholipase C-activating G-protein coupled receptor signaling pathway; etc. | |
| 14. | MYD88 | Gac/Cac | D113H | Missense | Somatic | No | regulation of I-kappaB kinase/NF-kappaB cascade and NF-kappaB transcription factor activity | |
| 15. | CD274 | Gaa/Caa | E152Q | Missense | Somatic | No | Cell adhesion molecules (CAMs); signal transduction | |
| 16. | CDCA7L | GTa/gCa | Y64C | Missense | Somatic | No | positive regulation of cell proliferation; regulation of transcription | |
| 17. | PRPF4B | cGt/cAt | R856H | Missense | Somatic | No | protein serine/threonine kinase activity | |
| 18. | ABCG5 | cGt/cAt | T489M | Missense | Somatic | No | ATPase activity; ABC transporters | Transmembrane domain |
| 19. | NOL9 | acC/acG | G153R | Missense | Somatic | No | polynucleotide 5'-hydroxyl-kinase activity | |
| 20. | NOL9 | ctC/ctG | E185Q | Missense | Somatic | No | polynucleotide 5'-hydroxyl-kinase activity | |
| 21. | PTPDC1 | Gag/Aag | E639K | Missense | Somatic | No | protein tyrosine/serine/threonine phosphatase activity | |
| 22 | ODZ1 | ctG/ctA | Q957* | Stop gain | Somatic | No | negative regulation of cell proliferation | |
| 23. | ALS2CR8 | Gaa/Aaa | E688K | Missense | Somatic | No | sequence-specific DNA binding transcription factor activity | |
| 24. | MACF1 | Cgg/Tgg | R2091W | Missense | Somatic | No | cell cycle arrest | Spectrin domain |
| 25. | TTN | gaC/gaT | V2387I | Missense | Somatic | Yes (breast cancer) | protein serine/threonine kinase activity; protein tyrosine kinase activity | |
| 26. | G6PD | caC/caT | V390M | Missense | Germline | No | Metabolic pathways | |
| 27 | FGF22 | Cgg/Tgg | R100W | Missense | Germline | No | MAPKinase Pathway; Pathways in cancer | FgGF domain |
| 28. | FMOD | gGa/gAa | S105F | Missense | Germline | No | transforming growth factor beta receptor complex assembly | LRR domain |
| 29. | HIVEP3 | ctC/ctT | E155K | Missense | Germline | No | positive regulation of transcription, may be a previously unidentified tumor-suppresser gene | |
| 30. | AIM1 | Cat/Aat | H219N | Missense | Germline | No | ||
| 31. | SEPN1 | Agc/Ggc | S388G | Missense | Germline | No | ||
| 32. | SEPN1 | Gtg/Atg | V534M | Missense | Germline | No | ||
| 33. | HAGH | gaC/gaA | V207F | Missense | Germline | No | Metabolic pathways | |
| 34. | GRAMD1A | cGc/cAg | R117Q | Missense | Germline | No | Gram Domain | |
| 35. | GRAMD1A | cCc/cGc | P554R | Missense | Germline | No | Gram Domain |
Key:
* indicates termination of the amino acid chain