View Data: Frequency of Individual Variants in Case-Controls Series
MUT_ID | hgvs_hg38 | hgvs_NM_000546 | ProtDescription | SNPlink | gnomADlink | COSMIClink | CLINVARlink | TCGA_ICGC_GENIE_count | Freq_cases | Freq_controls | Total_Cases | N_Cases | Total_Controls | N_Controls | DataSource | StudyDetails | AGVGDClass | SIFTClass | REVEL | BayesDel | TransactivationClass | DNE_LOFclass | DNEclass | |
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MUT_ID | hgvs_hg38 | hgvs_NM_000546 | ProtDescription | SNPlink | gnomADlink | COSMIClink | CLINVARlink | TCGA_ICGC_GENIE_count | Freq_cases | Freq_controls | Total_Cases | N_Cases | Total_Controls | N_Controls | DataSource | StudyDetails | AGVGDClass | SIFTClass | REVEL | BayesDel | TransactivationClass | DNE_LOFclass | DNEclass | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
19 | NC_000017.11:g.7676586C>A | NM_000546.5:c.9G>T | p.E3D | 0 | 1.4E-4 | 9.0E-5 | 7051 | 1 | 11241 | 1 | PMID:30287823 | Cases: 7051 unselected women with breast cancer; Controls: 11241 unaffected women of Japanese ancestry | C0 | Tolerated | 0.523 | 0.0189 | functional | notDNE_notLOF | ||||||
19 | NC_000017.11:g.7676586C>A | NM_000546.5:c.9G>T | p.E3D | 0 | 0.0 | 1.0E-4 | 53 | 0 | 12490 | 1 | PMID:30287823 | Cases: 53 unselected men with breast cancer; Controls: 12490 unaffected men of Japanese ancestry | C0 | Tolerated | 0.523 | 0.0189 | functional | notDNE_notLOF | ||||||
73 | NC_000017.11:g.7676568G>A | NM_000546.5:c.27C>T | p.S9S | 757282628 | 17-7579886-G-A | 215762 | 3 | 1.4E-4 | 2.7E-4 | 7051 | 1 | 11241 | 3 | PMID:30287823 | Cases: 7051 unselected women with breast cancer; Controls: 11241 unaffected women of Japanese ancestry | Tolerated | notDNE_notLOF | |||||||
73 | NC_000017.11:g.7676568G>A | NM_000546.5:c.27C>T | p.S9S | 757282628 | 17-7579886-G-A | 215762 | 3 | 0.0 | 2.0E-4 | 53 | 0 | 12490 | 3 | PMID:30287823 | Cases: 53 unselected men with breast cancer; Controls: 12490 unaffected men of Japanese ancestry | Tolerated | notDNE_notLOF | |||||||
74 | NC_000017.11:g.7676567C>T | NM_000546.5:c.28G>A | p.V10I | 535274413 | 17-7579885-C-T | 45361 | 127806 | 1 | 0.0 | 9.0E-5 | 7051 | 0 | 11241 | 1 | PMID:30287823 | Cases: 7051 unselected women with breast cancer; Controls: 11241 unaffected women of Japanese ancestry | C0 | Tolerated | 0.474 | -0.0961 | functional | notDNE_notLOF | ||
74 | NC_000017.11:g.7676567C>T | NM_000546.5:c.28G>A | p.V10I | 535274413 | 17-7579885-C-T | 45361 | 127806 | 1 | 0.0 | 2.0E-4 | 53 | 0 | 12490 | 2 | PMID:30287823 | Cases: 53 unselected men with breast cancer; Controls: 12490 unaffected men of Japanese ancestry | C0 | Tolerated | 0.474 | -0.0961 | functional | notDNE_notLOF | ||
84 | NC_000017.11:g.7676564C>G | NM_000546.5:c.31G>C | p.E11Q | 201382018 | 17-7579882-C-G | 11606 | 41723 | 2 | 0.01 | 0.01 | 7051 | 96 | 11241 | 172 | PMID:30287823 | Cases: 7051 unselected women with breast cancer; Controls: 11241 unaffected women of Japanese ancestry | C0 | Damaging | 0.449 | 0.089 | functional | notDNE_notLOF | ||
84 | NC_000017.11:g.7676564C>G | NM_000546.5:c.31G>C | p.E11Q | 201382018 | 17-7579882-C-G | 11606 | 41723 | 2 | 0.01 | 0.01 | 53 | 1 | 12490 | 185 | PMID:30287823 | Cases: 53 unselected men with breast cancer; Controls: 12490 unaffected men of Japanese ancestry | C0 | Damaging | 0.449 | 0.089 | functional | notDNE_notLOF | ||
271 | NC_000017.11:g.7676388G>A | NM_000546.5:c.90C>T | p.N30N | 370992294 | 17-7579706-G-A | 215764 | 0 | 0.0 | 9.0E-5 | 7051 | 0 | 11241 | 1 | PMID:30287823 | Cases: 7051 unselected women with breast cancer; Controls: 11241 unaffected women of Japanese ancestry | Tolerated | notDNE_notLOF | |||||||
272 | NC_000017.11:g.7676387C>T | NM_000546.5:c.91G>A | p.V31I | 201753350 | 17-7579705-C-T | 45360 | 127827 | 0 | 0.01 | 0.01 | 7051 | 94 | 11241 | 139 | PMID:30287823 | Cases: 7051 unselected women with breast cancer; Controls: 11241 unaffected women of Japanese ancestry | C0 | Tolerated | 0.569 | -0.0168 | functional | notDNE_notLOF |