Description of the prognostic germline variants identified in this study
Aa . | ||||||||||||||
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Variant . | Chrom . | Pos . | Ref . | Alt . | Population frequency . | Sample size . | Number of heterozygotes . | Number of homozygotes . | Gene name . | Median expression (FPKM) . | P . | HR . | . | . |
rs61757955 | 17 | 75318086 | A | G | 5.01% | 291 | 21 | 0 | GRB2 | 42.2 | 7.08E-10 | 20.4 | ||
rs28672782 | 11 | 1446622 | C | T | 16.27% | 50 | 15 | 5 | BRSK2 | 7.29 | <1E-16 | 1.15E-10 | ||
Bb | ||||||||||||||
Variant | Chrom | Pos | Ref | Alt | Population frequency | CADD Score | PhyloP Score | Gene name | Dataset | Sample size | Number of heterozygotes | Number of homozygotes | P | HR |
rs34988193 | 15 | 64943580 | A | G | 30.90% | 32 | 8.42 | ANKDD1a | TCGA | 450 | 199 | 52 | 0.00113 | 1.73 |
CGGA | 76 | 18 | 2 | 0.0743 | 1.79 |
Aa . | ||||||||||||||
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Variant . | Chrom . | Pos . | Ref . | Alt . | Population frequency . | Sample size . | Number of heterozygotes . | Number of homozygotes . | Gene name . | Median expression (FPKM) . | P . | HR . | . | . |
rs61757955 | 17 | 75318086 | A | G | 5.01% | 291 | 21 | 0 | GRB2 | 42.2 | 7.08E-10 | 20.4 | ||
rs28672782 | 11 | 1446622 | C | T | 16.27% | 50 | 15 | 5 | BRSK2 | 7.29 | <1E-16 | 1.15E-10 | ||
Bb | ||||||||||||||
Variant | Chrom | Pos | Ref | Alt | Population frequency | CADD Score | PhyloP Score | Gene name | Dataset | Sample size | Number of heterozygotes | Number of homozygotes | P | HR |
rs34988193 | 15 | 64943580 | A | G | 30.90% | 32 | 8.42 | ANKDD1a | TCGA | 450 | 199 | 52 | 0.00113 | 1.73 |
CGGA | 76 | 18 | 2 | 0.0743 | 1.79 |
aA description of the two prognostic germline variants (FDR < 0.10) in the TCGA dataset identified when testing all 196,022 germline variants.
bA description of the prognostic germline variant (FDR < 0.10) rs34988193 in ANKDD1a identified when the analysis was restricted to only germline variants with a combined annotation dependent depletion (CADD) score greater than 30 in the TCGA and CGGA datasets.