体细胞突变检测软件

GATK4.0 Mutect2

参考文献：

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

vcf进行注释软件

annovar

参考文献：Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data[J]. Nucleic acids research, 2010, 38(16): e164-e164

ANNOVAR人类各个数据库变异注释结果表格说明

  http://www.omicsclass.com/article/464