Table 1 The numbers of SNV and small indel findings received from data analysis with ANNOVAR software
Germline mutations | Somatic mutations | |||||
|---|---|---|---|---|---|---|
Homozygous: non-reference | Heterozygous | Homozygous in tumour | Heterozygous in tumour | Homozygous in tumour | Heterozygous in tumour | |
Heterozygous in control | Homozygous in control | Homozygous (reference) in control | Homozygous (reference) in control | |||
SNVs | ||||||
Altogether | 9,067 | 14,700 | 48 | 237 | 68 | 1,794 |
Exonic (includes ncRNA) | 5,244 | 8,702 | 21 | 103 | 29 | 967 |
Nonsynounymous | 2,435 | 4,035 | 15 | 52 | 18 | 500 |
Stopgain | 6 | 50 | 0 | 2 | 0 | 7 |
Stoploss | 2 | 5 | 0 | 0 | 0 | 1 |
Splicing (includes exonic) | 11 | 20 | 0 | 0 | 0 | 2 |
Intronic (includes ncRNA) | 3,091 | 4,846 | 22 | 111 | 35 | 681 |
5′ UTR and 3′ UTR | 515 | 797 | 3 | 19 | 1 | 91 |
Downstream and upstream | 51 | 76 | 1 | 2 | 1 | 13 |
Intergenic | 155 | 259 | 1 | 2 | 2 | 40 |
Small indels | ||||||
Altogether | 278 | 618 | 89 | 75 | 88 | 336 |
Exonic (includes ncRNA) | 33 | 99 | 14 | 11 | 2 | 29 |
Frameshift | 9 | 30 | 4 | 4 | 1 | 12 |
Stopgain | 0 | 1 | 0 | 0 | 0 | 0 |
Splicing (includes exonic) | 4 | 16 | 0 | 4 | 1 | 3 |
Intronic (includes ncRNA) | 212 | 419 | 64 | 51 | 75 | 270 |
5′ UTR and 3′ UTR | 25 | 73 | 10 | 7 | 8 | 24 |
Downstream and upstream | 1 | 2 | 0 | 1 | 1 | 6 |
Intergenic | 3 | 9 | 1 | 1 | 1 | 4 |