|
Reference material
|
Total variants identified
|
Total coding variants identified
|
Coding variantsin COSMIC genes
|
Total coding variants < 20% VAF
|
Total coding variants < 20% VAF in COSMIC genes
|
#genes with 1 or more variants
|
#COSMIC genes with 1 or more variants (Tier1/Tier2)
|
|---|
|
Sample A
|
42,570
|
42,570
|
2432
|
28,064
|
1653
|
12,238
|
422/102
|
|
SNV
|
42,021
|
42,021
|
2398
|
27,683
|
1624
|
|
Indel
|
549
|
549
|
34
|
381
|
29
|
|
Acrometrix
|
555
|
555
|
555
|
341a
|
341a
|
53
|
52/1
|
|
SNV
|
504
|
504
|
504
|
317
|
317
|
|
MNV/Indel
|
2/49
|
2/49
|
2/49
|
0/24
|
0/24
|
|
Oncospan
|
386
|
386
|
319
|
52
|
46
|
152
|
114/2
|
|
SNV
|
357
|
357
|
297
|
43
|
38
|
|
Indel
|
30
|
30
|
22
|
9
|
8
|
|
HCC1395 (somatic)
|
41,556
|
487
|
193
|
144
|
14
|
466
|
188
|
|
SNV
|
39,536
|
460
|
186
|
132
|
13
|
|
Indel
|
2020
|
27
|
7
|
12
|
1
|
|
HCC1395BL (germline)
|
3,577,254
|
21,755
|
NA
|
NA
|
NA
|
9566
|
NA
|
|
SNV
|
3,225,512
|
21,381
| | | |
|
Indel
|
351,742
|
374
| | | |
- aMost of the Acrometrix variants are synthetic controls. Thus, it is possible to construct a version of the material where 524 of the 555 variants have a VAF < 20%
