Cell Line / Sample Name | HCT116 | MiaPaCa-2 | H1975 | SK-MEL-28 | 4-Cell Line Mix | Human Placenta | 4-Cell Line Mix (Dil 1:2) | 4-Cell Line Mix (Dil 1:3) | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene Symbol | hg19 Coordinates | Variant Type | Variant | Freq. (%) | Found | Found | Found | Found | Expected | Found | Found | Expected | Found | Expected | Found |
ABL1 | 133738370 | SNV | G | 52.4 | N.A. | N.A. | N.A. | 13.1 | 12.6 ± 0.5 | N.A. | 6.1 | 6.3 ± 0.2 | 4.1 | 4.4 ± 0.5 | |
APC | 112175770 | SNV | A | 98.1 | 74.4 | 51.7 | 88.5 | 78.1 | 80.0 ± 0.9 | 2.1 | 40.7 | 40.8 ± 0.9 | 27.8 | 29.4 ± 0.8 | |
ATM | 108138003 | SNV | C | N.A. | N.A. | N.A. | N.A. | N.A. | N.A. | 55.8 | 27.9 | 32.1 ± 0.2 | 37.2 | 40.6 ± 0.4 | |
BRAF | 140453136 | SNV | A | N.A. | N.A. | N.A. | 99.3 | 24.8 | 21.7 ± 4.0 | N.A. | 12.3 | 13.7 ± 0.2 | 8.2 | 9.6 ± 0.2 | |
CDKN2A | 21971153 | SNV | T | N.A. | N.A. | 96.4 | N.A. | 24.1 | 35.7 ± 2.6 | N.A. | 16.9 | 10.4 ± 1.1 | 11.3 | 8.4 ± 0.9 | |
CSF1R | 149433596 | SNV | C | 99.6 | 99.3 | 100.0 | N.A. | 74.7 | 58.6 ± 4.5 | 90.5 | 72.9 | 68.8 ± 0.6 | 78.8 | 80.5 ± 1.2 | |
CSF1R | 149433597 | SNV | T | 99.6 | 99.1 | 100.0 | N.A. | 74.7 | 62.3 ± 9.8 | 93.2 | 74.3 | 76.9 ± 0.7 | 80.6 | 85.7 ± 0.8 | |
CTNNB1 | 41266134 | DEL | CTT | 50.2 | N.A. | N.A. | N.A. | 12.5 | 10.7 ± 1.8 | N.A. | 4.7 | 4.8 ± 0.6 | 3.2 | 3.1a ± 0.1 | |
EGFR | 55242487 | SNV | T | N.A. | N.A. | N.A. | 99.3 | 24.8 | 22.8 ± 2.6 | N.A. | 12.3 | 13.4 ± 0.1 | 8.2 | 8.0 ± 0.6 | |
EGFR | 55249063 | SNV | A | 100.0 | 23.2 | 70.6 | 100.0 | 73.4 | 75.3 ± 1.7 | 97.6 | 85.9 | 84.4 ± 0.7 | 89.8 | 90.1 ± 0.3 | |
EGFR | 55249071 | SNV | T | N.A. | N.A. | 70.7 | N.A. | 17.7 | 27.1 ± 2.5 | N.A. | 12.7 | 13.6 ± 1.1 | 8.4 | 8.9 ± 1.2 | |
EGFR | 55259515 | SNV | G | N.A. | N.A. | 56.7 | N.A. | 14.2 | 17.8 ± 0.7 | N.A. | 9.2 | 8.8 ± 1.3 | 6.1 | 6.4 ± 0.5 | |
ERBB4 | 212812097 | SNV | G | 100.0 | N.A. | 75.9 | N.A. | 44.0 | 54.0 ± 0.2 | 62.9 | 58.4 | 46.8 ± 1.6 | 59.9 | 59.0 ± 2.3 | |
FGFR3 | 1807894 | SNV | A | 100.0 | 100.0 | 99.6 | 100.0 | 99.9 | 99.6 ± 0.2 | 100.0 | 99.9 | 99.9 ± 0.1 | 99.9 | 99.8 ± 0.1 | |
FLT3 | 28602367 | SNV | A | 46.9 | N.A. | N.A. | N.A. | 11.7 | 15.4 ± 3.2 | N.A. | 8.8 | 7.0 ± 0.3 | 5.9 | 6.4 ± 0.8 | |
FLT3 | 28610183 | SNV | C | 100.0 | 66.5 | 99.6 | 69.2 | 83.8 | 80.9 ± 1.1 | 100.0 | 90.9 | 90.8 ± 0.1 | 93.9 | 93.4 ± 0.5 | |
HRAS | 534242 | SNV | C | 99.5 | 61.9 | 40.4 | 46.9 | 62.2 | 67.6 ± 1.1 | 2.6 | 34.7 | 32.0 ± 0.2 | 24.0 | 21.5 ± 1.2 | |
KDR | 55946354 | SNV | A | 48.5 | N.A. | N.A. | N.A. | 12.1 | 15.9 ± 1.0 | 51.3 | 33.3 | 34.5 ± 1.1 | 39.3 | 41.0 ± 1.1 | |
KDR | 55972974 | SNV | T | 52.6 | N.A. | N.A. | N.A. | 13.1 | 13.2 ± 4.3 | N.A. | 8.1 | 7.3 ± 0.5 | 5.4 | 5.1 ± 0.1 | |
KRAS | 25398281 | SNV | A | 46.4 | N.A. | N.A. | N.A. | 11.6 | 11.3 ± 0.7 | N.A. | 5.9 | 6.2 ± 0.4 | 3.9 | 4.2 ± 0.1 | |
KRAS | 25398285 | SNV | T | N.A. | 99.9 | N.A. | N.A. | 25.0 | 24.7 ± 1.2 | N.A. | 12.8 | 13.7 ± 0.5 | 8.5 | 9.5 ± 0.1 | |
MET | 116339672 | SNV | T | N.A. | 72.9 | N.A. | N.A. | 18.2 | 15.3 ± 2.0 | N.A. | 6.9 | 7.9 ± 0.0 | 4.6 | 4.8 ± 0.1 | |
NOTCH1 | 139390822 | SNV | G | N.A. | 100.0 | N.A. | N.A. | 25.0 | 22.5 ± 0.3 | N.A. | 11.1 | 9.3 ± 0.2 | 7.4 | 7.1 ± 0.1 | |
PDGFRA | 55141055 | SNV | G | 99.7 | 100.0 | 99.7 | 100.0 | 99.8 | 99.9 ± 0.2 | 99.9 | 99.8 | 99.9 ± 0.1 | 99.8 | 100.0 ± 0.1 | |
PDGFRA | 55152040 | SNV | T | N.A. | N.A. | 50.8 | N.A. | 12.7 | 11.8 ± 2.8 | 3.8 | 8.8 | 7.5 ± 0.1 | 7.1 | 6.0 ± 0.7 | |
PIK3CA | 178917005 | SNV | G | N.A. | N.A. | 100.0 | N.A. | 25.0 | 28.6 ± 7.6 | N.A. | 11.6 | 13.9 ± 0.1 | 7.8 | 10.2 ± 0.6 | |
PIK3CA | 178927410 | SNV | G | N.A. | N.A. | 45.1 | N.A. | 11.3 | 10.7 ± 1.2 | N.A. | 5.8 | 5.9 ± 0.2 | 3.9 | 4.0 ± 0.2 | |
PIK3CA | 178952085 | SNV | G | 47.7 | N.A. | N.A. | N.A. | 11.9 | 11.3 ± 2.3 | N.A. | 4.9 | 6.4 ± 0.4 | 3.2 | 3.9a ± 0.1 | |
PTEN | 89711881 | SNV | G | N.A. | N.A. | N.A. | 99.3 | 24.8 | 24.3 ± 1.0 | N.A. | 11.8 | 9.5 ± 0.8 | 7.9 | 8.4 ± 0.6 | |
RET | 43613843 | SNV | T | 100.0 | 65.8 | 100.0 | N.A. | 66.4 | 70.8 ± 2.1 | 100.0 | 86.1 | 86.8 ± 0.6 | 90.7 | 91.3 ± 0.5 | |
RET | 43615612 | SNV | G | 45.2 | N.A. | N.A. | N.A. | 11.3 | 15.1 ± 0.3 | N.A. | 7.4 | 7.2 ± 0.3 | 5.0 | 2.9 ± 0.5 | |
RET | 43615633 | SNV | G | N.A. | 64.5 | N.A. | N.A. | 16.1 | 14.1 ± 0.0 | N.A. | 7.1 | 7.6 ± 0.5 | 4.7 | 3.7 ± 1.1 | |
SMAD4 | 48586344 | SNV | T | 47.6 | N.A. | N.A. | N.A. | 11.9 | 17.2 ± 1.4 | N.A. | 8.1 | 6.5 ± 0.2 | 5.4 | 4.9 ± 0.2 | |
SMARCB1 | 24176287 | SNV | A | 50.7 | N.A. | 40.8 | N.A. | 22.9 | 22.0 ± 2.3 | N.A. | 11.8 | 14.6 ± 0.1 | 7.9 | 10.7 ± 0.4 | |
SMO | 128846374 | SNV | A | 52.6 | N.A. | N.A. | N.A. | 13.1 | 10.5 ± 1.5 | N.A. | 5.8 | 7.8 ± 2.0 | 3.9 | 4.4 ± 0.2 | |
TP53 | 7577025 | SNV | T | N.A. | N.A. | N.A. | N.A. | N.A. | N.A. | 79.0 | 39.5 | 29.1 ± 1.5 | 52.6 | 41.4 ± 1.1 | |
TP53 | 7577120 | SNV | A | N.A. | N.A. | 99.9 | N.A. | 25.0 | 31.6 ± 2.6 | N.A. | 16.7 | 20.8 ± 0.8 | 11.1 | 16.0 ± 0.1 | |
TP53 | 7577539 | SNV | T | N.A. | 99.5 | N.A. | N.A. | 24.9 | 18.8 ± 0.7 | N.A. | 9.6 | 11.3 ± 0.1 | 6.4 | 9.1 ± 0.1 | |
TP53 | 7579472 | SNV | G | 94.2 | N.A. | 94.2 | N.A. | 47.1 | 63.6 ± 8.9 | 20.4 | 45.1 | 54.3 ± 2.3 | 36.9 | 42.7 ± 1.7 |