chrom large_stringclasses 5
values | pos int64 10.1M 153M | ref large_stringclasses 4
values | alt large_stringclasses 4
values | label bool 2
classes | subset large_stringclasses 2
values | gene large_stringclasses 8
values | assay large_stringclasses 1
value | mavedb_urn large_stringclasses 8
values | function_score float64 -29.58 4.11 | author_gene large_stringclasses 1
value | author_chromosome int64 17 17 ⌀ | author_position_hg19 int64 41.2M 41.3M ⌀ | author_reference large_stringclasses 4
values | author_alt large_stringclasses 4
values | author_transcript_id large_stringclasses 1
value | author_transcript_position large_stringlengths 1 7 ⌀ | author_transcript_ref large_stringclasses 4
values | author_transcript_alt large_stringclasses 4
values | author_transcript_variant large_stringlengths 6 12 ⌀ | author_aa_pos float64 2 1.86k ⌀ | author_aa_ref large_stringclasses 20
values | author_aa_alt large_stringclasses 20
values | author_protein_variant large_stringlengths 5 8 ⌀ | author_consequence large_stringclasses 11
values | author_function_score_mean float64 -5.65 1.31 ⌀ | author_func_class large_stringclasses 3
values | author_p_nonfunctional float64 0 1 ⌀ | author_experiment large_stringclasses 13
values | author_negative int64 1 250 ⌀ | author_library int64 62 1.5k ⌀ | author_d5_r1 int64 106 15.2k ⌀ | author_d11_r1 int64 1 13.9k ⌀ | author_d5_r2 int64 62 9.44k ⌀ | author_d11_r2 int64 10 18.9k ⌀ | author_neg_freq float64 0 0 ⌀ | author_library_freq float64 0 0 ⌀ | author_d5_freq_r1 float64 0 0.01 ⌀ | author_d11_freq_r1 float64 0 0.01 ⌀ | author_d5_freq_r2 float64 0 0 ⌀ | author_d11_freq_r2 float64 0 0.01 ⌀ | author_d5_lib_ratio_r1 float64 -3.04 3.6 ⌀ | author_loess_fit_r1 float64 -0.88 3.54 ⌀ | author_d11_lib_raw_r1 float64 -10.33 3 ⌀ | author_d11_lib_loess_r1 float64 -10.24 1.46 ⌀ | author_d5_lib_ratio_r2 float64 -2.41 3.23 ⌀ | author_loess_fit_r2 float64 -0.86 3.26 ⌀ | author_d11_lib_raw_r2 float64 -6.5 3.1 ⌀ | author_d11_lib_loess_r2 float64 -6.72 1.78 ⌀ | author_function_score_r1 float64 -6.26 1.5 ⌀ | author_function_score_r2 float64 -5.59 1.26 ⌀ | author_rna_r1 float64 1 17.6k ⌀ | author_rna_r2 float64 1 32.7k ⌀ | author_rna_r1_freq float64 0 0.01 ⌀ | author_rna_r2_freq float64 0 0.01 ⌀ | author_rna_score_1 float64 -6.07 2.38 ⌀ | author_rna_score_2 float64 -5.92 1.76 ⌀ | author_mean_rna_score float64 -5.85 1.12 ⌀ | author_cadd_score float64 0 35 ⌀ | author_phylop_mammalian float64 -4.41 2.87 ⌀ | author_polyphen2 float64 0 1 ⌀ | author_sift float64 0 1 ⌀ | author_agvgd_diff float64 -214.36 354 ⌀ | author_agvgd_class float64 0 65 ⌀ | author_clinvar large_stringclasses 8
values | author_clinvar_simple large_stringclasses 7
values | author_gnomad_af float64 0 0.02 ⌀ | author_bravo_af float64 0 0.01 ⌀ | author_flossies_af float64 0 0.02 ⌀ | author_wt_hap1_function_score_r1 float64 -12.28 19 ⌀ | author_wt_hap1_function_score_r2 float64 -11.29 9.51 ⌀ | author_wt_hap1_function_score_mean float64 -5.8 8.57 ⌀ | consequence large_stringclasses 6
values | consequence_cre large_stringclasses 11
values | exon_closest_pc_gene_id large_stringclasses 9
values | distance_exon_pc int64 0 30 | exon_closest_nc_gene_id large_stringclasses 8
values | distance_exon_nc int64 0 971 | distance_exon int64 0 30 | exon_closest_gene_id large_stringclasses 9
values | consequence_final large_stringclasses 6
values | tss_closest_pc_gene_id large_stringclasses 11
values | distance_tss_pc int64 0 31.9k | tss_closest_nc_gene_id large_stringclasses 11
values | distance_tss_nc int64 0 15.4k | distance_tss int64 0 15.4k | tss_closest_gene_id large_stringclasses 10
values | consequence_group large_stringclasses 2
values | author_accession large_stringlengths 25 28 ⌀ | author_hgvs_nt large_stringlengths 24 30 ⌀ | author_hgvs_splice large_stringclasses 1
value | author_hgvs_pro large_stringclasses 1
value | author_score float64 -29.58 4.11 ⌀ | author_chrom large_stringclasses 3
values | author_pos int64 35.1M 153M ⌀ | author_ref large_stringclasses 4
values | author_exon large_stringclasses 16
values | author_target large_stringclasses 33
values | author_standard_error float64 0 0.12 ⌀ | author_95_ci_upper float64 -0.33 0.3 ⌀ | author_95_ci_lower float64 -0.65 0.09 ⌀ | author_amino_acid_change large_stringlengths 3 5 ⌀ | author_cds_position large_stringlengths 2 6 ⌀ | author_cdna_position large_stringlengths 2 6 ⌀ | author_functional_consequence large_stringclasses 3
values | author_gmm_density_abnormal float64 0 1 ⌀ | author_gmm_density_normal float64 0 1 ⌀ | author_variant_qc_flag large_stringclasses 1
value | author_functional_classification large_stringclasses 4
values | author_z_score_d4_d7 float64 -22.19 3.93 ⌀ | author_z_score_continuous float64 -28.72 4.35 ⌀ | author_bh_fdr_d4_d7 float64 0 1 ⌀ | author_bh_fdr_d4_d14 float64 0 1 ⌀ | author_bh_fdr_continuous float64 0 1 ⌀ | author_processed_adj_lfc_d4_d7 float64 -3.27 0.44 ⌀ | author_processed_adj_lfc_d4_d14 float64 -5.65 0.53 ⌀ | author_processed_adj_lfc_continuous float64 -0.56 0.05 ⌀ | author_two_tailed_p_d4_d7 float64 0 1 ⌀ | author_two_tailed_p_d4_d14 float64 0 1 ⌀ | author_two_tailed_p_continuous float64 0 1 ⌀ | author_se_bind_d4_d7 float64 0.03 0.52 ⌀ | author_se_bind_d4_d14 float64 0.03 0.52 ⌀ | author_se_bind_continuous float64 0 0.08 ⌀ | author_gmm_fast_depleted_z large_stringclasses 611
values | author_gmm_slow_depleted_z large_stringclasses 614
values | author_gmm_uncertainty large_stringclasses 612
values | author_processed_lfc_d4_d7 float64 -0.63 0.6 ⌀ | author_processed_lfc_d4_d10 float64 -1.18 0.41 ⌀ | author_processed_lfc_d4_d14 float64 -2.24 0.57 ⌀ | author_processed_lfc_d4_d21 float64 -3.7 0.56 ⌀ | author_processed_lfc_continuous float64 -0.22 0.03 ⌀ | author_se_bind_d4_d10 float64 0.03 0.52 ⌀ | author_se_bind_d4_d21 float64 0.03 0.48 ⌀ | author_processed_z_d4_d7 float64 -5.72 3.4 ⌀ | author_processed_z_d4_d10 float64 -13.34 4.17 ⌀ | author_processed_z_d4_d14 float64 -23.13 6.21 ⌀ | author_processed_z_d4_d21 float64 -38.62 7.58 ⌀ | author_processed_z_continuous float64 -32.03 9.16 ⌀ | author_processed_bh_fdr_d4_d7 float64 0 1 ⌀ | author_processed_bh_fdr_d4_d10 float64 0 1 ⌀ | author_processed_bh_fdr_d4_d14 float64 0 1 ⌀ | author_processed_bh_fdr_d4_d21 float64 0 1 ⌀ | author_processed_bh_fdr_continuous float64 0 1 ⌀ | author_confidence_of_functionally_abnormal_variant_prediction large_stringclasses 3
values | author_sge_prediction_of_variant_function_in_ndd_context large_stringclasses 2
values | author_protein_position large_stringclasses 660
values | author_score_no_dab large_stringlengths 2 12 ⌀ | author_score_hap1_hif1a_ko large_stringclasses 456
values | author_rna_score_d6 large_stringclasses 889
values | author_rna_score_d20 large_stringclasses 889
values | assay_phenotypic_assay_method large_stringclasses 3
values | assay_delivery_method large_stringclasses 1
value | assay_endogenous_locus_library_method_mechanism large_stringclasses 1
value | assay_endogenous_locus_library_method_system large_stringclasses 1
value | assay_phenotypic_assay_dimensionality large_stringclasses 1
value | assay_phenotypic_assay_mechanism large_stringclasses 1
value | assay_phenotypic_assay_model_system large_stringclasses 1
value | assay_phenotypic_assay_profiling_strategy large_stringclasses 1
value | assay_phenotypic_assay_sequencing_read_type large_stringclasses 1
value | assay_variant_library_creation_method large_stringclasses 1
value | assay_molecular_mechanism_assessed large_stringclasses 1
value | author_class_harmonized large_stringclasses 3
values | calibrated_class large_stringclasses 2
values | calibration_scheme large_stringclasses 3
values | acmg_strength large_stringclasses 5
values | function_direction int8 -1 1 | function_score_aligned float64 -29.58 4.11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 43,045,705 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.021941 | BRCA1 | 17 | 41,197,722 | T | C | NM_007294.3 | 5565 | A | G | c.5565A>G | 1,855 | I | M | p.I1855M | Missense | 0.021941 | FUNC | 0 | X23 | 2 | 436 | 2,908 | 3,037 | 2,760 | 2,334 | 0.000012 | 0.001169 | 0.000833 | 0.001113 | 0.000632 | 0.000855 | -0.201028 | -0.211658 | -0.012648 | 0.19901 | -0.581616 | -0.345219 | -0.500256 | -0.155037 | 0.174501 | -0.13062 | 1,406 | 666 | 0.001194 | 0.000399 | 0.404663 | -1.054867 | -0.289526 | 23.5 | -0.494 | 0.94 | 0 | 96.19 | 0 | absent | absent | 0 | 0 | 0 | -1.499307 | -0.006078 | -0.752692 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,473 | ENSG00000012048 | 2,767 | 2,767 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.021941 |
17 | 43,045,706 | A | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.464328 | BRCA1 | 17 | 41,197,723 | A | C | NM_007294.3 | 5564 | T | G | c.5564T>G | 1,855 | I | R | p.I1855R | Missense | -0.464328 | FUNC | 0.000174 | X23 | 2 | 505 | 3,132 | 2,701 | 3,878 | 1,530 | 0.000012 | 0.001354 | 0.000898 | 0.00099 | 0.000887 | 0.00056 | -0.305926 | -0.233129 | -0.393756 | -0.160627 | -0.302926 | -0.386404 | -1.321484 | -0.93508 | -0.140845 | -0.787812 | 2,449 | 1,310 | 0.00208 | 0.000785 | 1.098202 | -0.569539 | 0.343402 | 26.2 | 2.232 | 0.969 | 0 | 35.57 | 0 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,474 | ENSG00000012048 | 2,766 | 2,766 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.464328 |
17 | 43,045,706 | A | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.291519 | BRCA1 | 17 | 41,197,723 | A | G | NM_007294.3 | 5564 | T | C | c.5564T>C | 1,855 | I | T | p.I1855T | Missense | -0.291519 | FUNC | 0.000017 | X23 | 1 | 518 | 2,905 | 2,124 | 4,174 | 2,750 | 0.000006 | 0.001388 | 0.000832 | 0.000778 | 0.000955 | 0.001007 | -0.451141 | -0.233129 | -0.777135 | -0.544006 | -0.233477 | -0.386404 | -0.512253 | -0.125849 | -0.477009 | -0.106029 | 1,146 | 3,101 | 0.000973 | 0.001859 | 0.111163 | 0.56751 | 0.30377 | 27.2 | 2.232 | 0.882 | 0 | 46.77 | 0 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | 0.125479 | 0.521103 | 0.323291 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,474 | ENSG00000012048 | 2,766 | 2,766 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.291519 |
17 | 43,045,707 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.218034 | BRCA1 | 17 | 41,197,724 | T | A | NM_007294.3 | 5563 | A | T | c.5563A>T | 1,855 | I | L | p.I1855L | Missense | -0.218034 | FUNC | 0.000007 | X23 | 3 | 477 | 3,170 | 2,450 | 3,489 | 2,186 | 0.000018 | 0.001279 | 0.000908 | 0.000898 | 0.000798 | 0.000801 | -0.206233 | -0.250194 | -0.452174 | -0.20198 | -0.373131 | -0.417057 | -0.724428 | -0.307371 | -0.177105 | -0.258962 | 652 | 1,111 | 0.000554 | 0.000666 | -0.828445 | -0.654748 | -0.805836 | 23.6 | -0.129 | 0.403 | 0.01 | 96.19 | 0 | absent | absent | 0 | 0 | 0 | -0.068912 | -0.552025 | -0.310468 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,475 | ENSG00000012048 | 2,765 | 2,765 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.218034 |
17 | 43,045,707 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.046278 | BRCA1 | 17 | 41,197,724 | T | C | NM_007294.3 | 5563 | A | G | c.5563A>G | 1,855 | I | V | p.I1855V | Missense | 0.046278 | FUNC | 0 | X23 | 79 | 432 | 2,559 | 3,091 | 3,343 | 2,166 | 0.000465 | 0.001158 | 0.000733 | 0.001133 | 0.000765 | 0.000793 | -0.372178 | -0.250194 | 0.026076 | 0.27627 | -0.291844 | -0.417057 | -0.59473 | -0.177674 | 0.242246 | -0.149691 | 973 | 566 | 0.000826 | 0.000339 | 0.058025 | -1.566063 | -0.684578 | 6.192 | -0.129 | 0.03 | 0.65 | 96.19 | 0 | absent | absent | 0 | 0 | 0 | 0.854759 | -0.548796 | 0.152981 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,475 | ENSG00000012048 | 2,765 | 2,765 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.046278 |
17 | 43,045,707 | T | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.233297 | BRCA1 | 17 | 41,197,724 | T | G | NM_007294.3 | 5563 | A | C | c.5563A>C | 1,855 | I | L | p.I1855L | Missense | 0.233297 | FUNC | 0 | X23 | 1 | 473 | 3,700 | 4,090 | 4,637 | 2,649 | 0.000006 | 0.001268 | 0.00106 | 0.001499 | 0.001061 | 0.00097 | 0.028958 | -0.250194 | 0.299294 | 0.549489 | 0.049396 | -0.417057 | -0.435125 | -0.018068 | 0.481817 | -0.015222 | 2,130 | 2,648 | 0.001809 | 0.001588 | 0.656422 | 0.187918 | 0.343346 | 23.6 | -0.129 | 0.403 | 0.01 | 96.19 | 0 | absent | absent | 0 | 0 | 0 | 0.370209 | -0.460596 | -0.045193 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,475 | ENSG00000012048 | 2,765 | 2,765 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.233297 |
17 | 43,045,709 | A | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.312452 | BRCA1 | 17 | 41,197,726 | A | C | NM_007294.3 | 5561 | T | G | c.5561T>G | 1,854 | L | R | p.L1854R | Missense | 0.312452 | FUNC | 0 | X23 | 4 | 406 | 2,566 | 2,934 | 3,305 | 3,016 | 0.000024 | 0.001088 | 0.000735 | 0.001075 | 0.000756 | 0.001105 | -0.278686 | -0.269031 | 0.040423 | 0.309454 | -0.218785 | -0.447228 | -0.027576 | 0.419652 | 0.271343 | 0.35356 | 1,626 | 1,290 | 0.001381 | 0.000773 | 0.7949 | -0.361073 | 0.200604 | 27.5 | 1.015 | 0.999 | 0 | 101.88 | 0 | absent | absent | 0 | 0 | 0 | 0.34118 | 0.328966 | 0.335073 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,477 | ENSG00000012048 | 2,763 | 2,763 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.312452 |
17 | 43,045,709 | A | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.343872 | BRCA1 | 17 | 41,197,726 | A | G | NM_007294.3 | 5561 | T | C | c.5561T>C | 1,854 | L | P | p.L1854P | Missense | -1.343872 | LOF | 0.992373 | X23 | 3 | 371 | 2,599 | 868 | 2,300 | 584 | 0.000018 | 0.000994 | 0.000745 | 0.000318 | 0.000526 | 0.000214 | -0.13019 | -0.269031 | -1.586619 | -1.317588 | -0.611741 | -0.447228 | -2.266111 | -1.818883 | -1.155321 | -1.532422 | 747 | 424 | 0.000634 | 0.000254 | -0.345683 | -1.443291 | -0.919132 | 28.3 | 1.015 | 1 | 0 | 22.34 | 15 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -1.61277 | -1.607862 | -1.610316 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,477 | ENSG00000012048 | 2,763 | 2,763 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.343872 |
17 | 43,045,709 | A | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.259387 | BRCA1 | 17 | 41,197,726 | A | T | NM_007294.3 | 5561 | T | A | c.5561T>A | 1,854 | L | Q | p.L1854Q | Missense | 0.259387 | FUNC | 0 | X23 | 2 | 469 | 2,935 | 2,514 | 2,847 | 4,357 | 0.000012 | 0.001257 | 0.000841 | 0.000921 | 0.000651 | 0.001596 | -0.292954 | -0.269031 | -0.39057 | -0.121539 | -0.642101 | -0.447228 | 0.295015 | 0.742243 | -0.106571 | 0.625345 | 738 | 299 | 0.000627 | 0.000179 | -0.538574 | -2.255018 | -1.306671 | 27 | 1.015 | 0.999 | 0 | 70.81 | 0 | absent | absent | 0 | 0 | 0 | 0.958219 | 0.264684 | 0.611451 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,477 | ENSG00000012048 | 2,763 | 2,763 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.259387 |
17 | 43,045,710 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.158476 | BRCA1 | 17 | 41,197,727 | G | C | NM_007294.3 | 5560 | C | G | c.5560C>G | 1,854 | L | V | p.L1854V | Missense | 0.158476 | FUNC | 0 | X23 | 37 | 325 | 2,449 | 2,577 | 2,384 | 1,706 | 0.000218 | 0.000871 | 0.000702 | 0.000944 | 0.000545 | 0.000625 | -0.024974 | -0.263925 | 0.174286 | 0.438211 | -0.369011 | -0.448685 | -0.528554 | -0.07987 | 0.384244 | -0.067291 | 805 | 1,366 | 0.000684 | 0.000819 | -0.152038 | 0.19278 | -0.028092 | 26.6 | 2.766 | 0.991 | 0 | 74.52 | 0 | absent | absent | 0 | 0 | 0 | 0.843913 | -0.178899 | 0.332507 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,478 | ENSG00000012048 | 2,762 | 2,762 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.158476 |
17 | 43,045,710 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.040534 | BRCA1 | 17 | 41,197,727 | G | T | NM_007294.3 | 5560 | C | A | c.5560C>A | 1,854 | L | M | p.L1854M | Missense | -0.040534 | FUNC | 0.000001 | X23 | 1 | 299 | 2,042 | 1,688 | 1,819 | 1,611 | 0.000006 | 0.000801 | 0.000585 | 0.000618 | 0.000416 | 0.00059 | -0.16689 | -0.263925 | -0.315797 | -0.051872 | -0.638956 | -0.448685 | -0.490921 | -0.042236 | -0.045484 | -0.035585 | 572 | 992 | 0.000486 | 0.000595 | -0.382802 | 0.121473 | -0.160065 | 27.2 | 2.766 | 0.999 | 0 | 95.8 | 0 | absent | absent | 0 | 0 | 0 | -0.30013 | -0.380881 | -0.340505 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,478 | ENSG00000012048 | 2,762 | 2,762 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.040534 |
17 | 43,045,712 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.627988 | BRCA1 | 17 | 41,197,729 | T | A | NM_007294.3 | 5558 | A | T | c.5558A>T | 1,853 | Y | F | p.Y1853F | Missense | -0.627988 | FUNC | 0.001739 | X23 | 4 | 574 | 3,376 | 2,274 | 4,172 | 1,825 | 0.000024 | 0.001539 | 0.000967 | 0.000833 | 0.000955 | 0.000669 | -0.382463 | -0.222968 | -0.826785 | -0.603817 | -0.382267 | -0.389554 | -1.251887 | -0.862333 | -0.529455 | -0.726522 | 1,149 | 2,418 | 0.000976 | 0.00145 | -0.101842 | 0.209282 | 0.001764 | 28.7 | 2.232 | 0.997 | 0 | -21.61 | 15 | absent | absent | 0 | 0 | 0 | -0.554934 | -0.985728 | -0.770331 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,480 | ENSG00000012048 | 2,760 | 2,760 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.627988 |
17 | 43,045,712 | T | C | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.763438 | BRCA1 | 17 | 41,197,729 | T | C | NM_007294.3 | 5558 | A | G | c.5558A>G | 1,853 | Y | C | p.Y1853C | Missense | -2.763438 | LOF | 1 | X23 | 1 | 454 | 2,965 | 494 | 1,713 | 165 | 0.000006 | 0.001217 | 0.00085 | 0.000181 | 0.000392 | 0.00006 | -0.231387 | -0.222968 | -2.691076 | -2.468108 | -1.328123 | -0.389554 | -4.380887 | -3.991333 | -2.164151 | -3.362726 | 326 | 746 | 0.000277 | 0.000447 | -1.731994 | -0.203071 | -0.783032 | 27 | 2.232 | 1 | 0 | -193.72 | 65 | Conflicting interpretations of pathogenicity | Conflicting interpretations of pathogenicity | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,480 | ENSG00000012048 | 2,760 | 2,760 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.763438 |
17 | 43,045,712 | T | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.698237 | BRCA1 | 17 | 41,197,729 | T | G | NM_007294.3 | 5558 | A | C | c.5558A>C | 1,853 | Y | S | p.Y1853S | Missense | -1.698237 | LOF | 0.999985 | X23 | 2 | 505 | 4,562 | 922 | 2,327 | 618 | 0.000012 | 0.001354 | 0.001307 | 0.000338 | 0.000532 | 0.000226 | 0.236656 | -0.222968 | -1.944411 | -1.721443 | -1.039768 | -0.389554 | -2.629337 | -2.239783 | -1.509441 | -1.887033 | 762 | 289 | 0.000647 | 0.000173 | -1.12871 | -2.013123 | -1.62133 | 29.8 | 2.232 | 1 | 0 | -143.11 | 65 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,480 | ENSG00000012048 | 2,760 | 2,760 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.698237 |
17 | 43,045,713 | A | C | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -3.351372 | BRCA1 | 17 | 41,197,730 | A | C | NM_007294.3 | 5557 | T | G | c.5557T>G | 1,853 | Y | D | p.Y1853D | Missense | -3.351372 | LOF | 1 | X23 | 2 | 458 | 2,219 | 542 | 1,633 | 61 | 0.000012 | 0.001228 | 0.000636 | 0.000199 | 0.000374 | 0.000022 | -0.662165 | -0.200186 | -2.569949 | -2.369763 | -1.409779 | -0.339764 | -5.829127 | -5.489363 | -2.077917 | -4.624826 | 504 | 1,372 | 0.000428 | 0.000823 | -0.68532 | 0.744962 | 0.187504 | 28.4 | 2.232 | 1 | 0 | -159.94 | 65 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,481 | ENSG00000012048 | 2,759 | 2,759 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -3.351372 |
17 | 43,045,713 | A | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.652883 | BRCA1 | 17 | 41,197,730 | A | G | NM_007294.3 | 5557 | T | C | c.5557T>C | 1,853 | Y | H | p.Y1853H | Missense | -1.652883 | LOF | 0.999966 | X23 | 3 | 470 | 2,768 | 574 | 3,060 | 991 | 0.000018 | 0.00126 | 0.000793 | 0.00021 | 0.0007 | 0.000363 | -0.380544 | -0.200186 | -2.524505 | -2.324318 | -0.541085 | -0.339764 | -1.844436 | -1.504672 | -2.038069 | -1.267696 | 967 | 2,263 | 0.000821 | 0.001357 | -0.064162 | 0.560912 | 0.236147 | 28.6 | 2.232 | 1 | 0 | -83.33 | 65 | absent | absent | 0 | 0 | 0 | -0.636771 | -2.183043 | -1.409907 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,481 | ENSG00000012048 | 2,759 | 2,759 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.652883 |
17 | 43,045,713 | A | T | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.167195 | BRCA1 | 17 | 41,197,730 | A | T | NM_007294.3 | 5557 | T | A | c.5557T>A | 1,853 | Y | N | p.Y1853N | Missense | -2.167195 | LOF | 1 | X23 | 2 | 313 | 1,224 | 184 | 1,441 | 606 | 0.000012 | 0.000839 | 0.000351 | 0.000067 | 0.00033 | 0.000222 | -0.971286 | -0.200186 | -3.579351 | -3.379165 | -1.041048 | -0.339764 | -1.967505 | -1.627741 | -2.963008 | -1.371383 | 255 | 264 | 0.000217 | 0.000158 | -0.809941 | -1.452254 | -1.201627 | 28.8 | 2.232 | 1 | 0 | -142.23 | 65 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -4.262648 | -2.502011 | -3.382329 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,481 | ENSG00000012048 | 2,759 | 2,759 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.167195 |
17 | 43,045,715 | G | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.152108 | BRCA1 | 17 | 41,197,732 | G | A | NM_007294.3 | 5555 | C | T | c.5555C>T | 1,852 | T | I | p.T1852I | Missense | -0.152108 | FUNC | 0.000003 | X23 | 3 | 521 | 3,704 | 3,152 | 4,371 | 2,711 | 0.000018 | 0.001397 | 0.001061 | 0.001155 | 0.001 | 0.000993 | -0.108926 | -0.178677 | -0.215982 | -0.037306 | -0.175276 | -0.218934 | -0.541191 | -0.322257 | -0.032711 | -0.271504 | 1,097 | 4,266 | 0.000932 | 0.002558 | -0.302427 | 0.961127 | 0.444477 | 28.1 | 1.411 | 0.916 | 0 | 58.19 | 0 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | 0.007085 | -0.817001 | -0.404958 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,483 | ENSG00000012048 | 2,757 | 2,757 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.152108 |
17 | 43,045,715 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.131134 | BRCA1 | 17 | 41,197,732 | G | C | NM_007294.3 | 5555 | C | G | c.5555C>G | 1,852 | T | S | p.T1852S | Missense | -0.131134 | FUNC | 0.000002 | X23 | 3 | 547 | 3,416 | 3,328 | 4,185 | 2,929 | 0.000018 | 0.001466 | 0.000979 | 0.001219 | 0.000958 | 0.001073 | -0.29596 | -0.178677 | -0.207852 | -0.029175 | -0.308269 | -0.218934 | -0.499865 | -0.280931 | -0.025582 | -0.236687 | 904 | 2,646 | 0.000768 | 0.001586 | -0.464819 | 0.334792 | -0.04839 | 23.7 | 1.411 | 0.349 | 0.02 | 124.5 | 0 | absent | absent | 0 | 0 | 0 | 0.076613 | -0.176072 | -0.049729 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,483 | ENSG00000012048 | 2,757 | 2,757 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.131134 |
17 | 43,045,715 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.0745 | BRCA1 | 17 | 41,197,732 | G | T | NM_007294.3 | 5555 | C | A | c.5555C>A | 1,852 | T | N | p.T1852N | Missense | -0.0745 | FUNC | 0.000001 | X23 | 5 | 408 | 2,319 | 2,150 | 3,037 | 2,785 | 0.000029 | 0.001094 | 0.000665 | 0.000788 | 0.000695 | 0.00102 | -0.431793 | -0.178677 | -0.415199 | -0.236522 | -0.347878 | -0.218934 | -0.149624 | 0.069309 | -0.207394 | 0.058394 | 1,019 | 521 | 0.000866 | 0.000312 | 0.266745 | -1.547085 | -0.526974 | 26.6 | 1.411 | 0.874 | 0 | 127.25 | 0 | absent | absent | 0 | 0 | 0 | 0.491096 | 0.711335 | 0.601215 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,483 | ENSG00000012048 | 2,757 | 2,757 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.0745 |
17 | 43,045,716 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.235598 | BRCA1 | 17 | 41,197,733 | T | A | NM_007294.3 | 5554 | A | T | c.5554A>T | 1,852 | T | S | p.T1852S | Missense | -0.235598 | FUNC | 0.000008 | X23 | 4 | 503 | 3,895 | 3,128 | 4,001 | 2,296 | 0.000024 | 0.001348 | 0.001116 | 0.001146 | 0.000915 | 0.000841 | 0.014338 | -0.17897 | -0.176284 | 0.002686 | -0.252154 | -0.168094 | -0.730168 | -0.562074 | 0.002355 | -0.473551 | 1,007 | 608 | 0.000855 | 0.000365 | -0.498466 | -1.722011 | -1.116226 | 23.3 | 0.144 | 0.349 | 0.02 | 124.5 | 0 | absent | absent | 0 | 0 | 0 | 0.007455 | -0.51376 | -0.253152 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,484 | ENSG00000012048 | 2,756 | 2,756 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.235598 |
17 | 43,045,716 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.309628 | BRCA1 | 17 | 41,197,733 | T | C | NM_007294.3 | 5554 | A | G | c.5554A>G | 1,852 | T | A | p.T1852A | Missense | 0.309628 | FUNC | 0 | X23 | 4 | 466 | 3,537 | 3,314 | 5,269 | 4,537 | 0.000024 | 0.001249 | 0.001014 | 0.001214 | 0.001206 | 0.001662 | -0.014531 | -0.17897 | 0.017277 | 0.196247 | 0.255243 | -0.168094 | 0.362676 | 0.53077 | 0.172079 | 0.447178 | 1,653 | 2,060 | 0.001404 | 0.001235 | 0.355654 | -0.358678 | -0.067091 | 9.563 | 0.144 | 0.205 | 0.84 | 127.25 | 0 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -0.565691 | 0.019024 | -0.273333 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,484 | ENSG00000012048 | 2,756 | 2,756 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.309628 |
17 | 43,045,716 | T | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.067412 | BRCA1 | 17 | 41,197,733 | T | G | NM_007294.3 | 5554 | A | C | c.5554A>C | 1,852 | T | P | p.T1852P | Missense | -0.067412 | FUNC | 0.000001 | X23 | 1 | 293 | 2,143 | 1,905 | 2,162 | 1,684 | 0.000006 | 0.000785 | 0.000614 | 0.000698 | 0.000495 | 0.000617 | -0.067996 | -0.17897 | -0.112076 | 0.066894 | -0.36049 | -0.168094 | -0.397741 | -0.229647 | 0.058656 | -0.193479 | 510 | 381 | 0.000433 | 0.000228 | -0.617969 | -1.508297 | -1.112932 | 19.1 | 0.144 | 0.022 | 0.08 | 125.63 | 0 | absent | absent | 0 | 0 | 0 | 1.134452 | -0.383096 | 0.375678 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,484 | ENSG00000012048 | 2,756 | 2,756 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.067412 |
17 | 43,045,717 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.007962 | BRCA1 | 17 | 41,197,734 | G | C | NM_007294.3 | 5553 | C | G | c.5553C>G | 1,851 | D | E | p.D1851E | Missense | 0.007962 | FUNC | 0 | X23 | 1 | 292 | 2,343 | 2,110 | 2,716 | 1,770 | 0.000006 | 0.000783 | 0.000671 | 0.000773 | 0.000621 | 0.000648 | 0.065662 | -0.167522 | 0.040308 | 0.207831 | -0.026441 | -0.12355 | -0.320951 | -0.197401 | 0.182235 | -0.166312 | 378 | 1,017 | 0.000321 | 0.00061 | -1.178805 | -0.420957 | -0.790587 | 23.4 | 0.349 | 0.022 | 0 | 120.86 | 0 | absent | absent | 0 | 0 | 0 | -0.092468 | 0.175511 | 0.041522 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,485 | ENSG00000012048 | 2,755 | 2,755 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.007962 |
17 | 43,045,717 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.236928 | BRCA1 | 17 | 41,197,734 | G | T | NM_007294.3 | 5553 | C | A | c.5553C>A | 1,851 | D | E | p.D1851E | Missense | -0.236928 | FUNC | 0.000008 | X23 | 2 | 538 | 3,290 | 2,184 | 4,175 | 3,972 | 0.000012 | 0.001442 | 0.000943 | 0.0008 | 0.000955 | 0.001455 | -0.326246 | -0.167522 | -0.7916 | -0.624077 | -0.287786 | -0.12355 | -0.036473 | 0.087077 | -0.54722 | 0.073363 | 1,580 | 1,100 | 0.001342 | 0.00066 | 0.394931 | -0.928066 | -0.256071 | 23.6 | 0.349 | 0.022 | 0 | 120.86 | 0 | absent | absent | 0 | 0 | 0 | -0.565955 | 0.339982 | -0.112987 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,485 | ENSG00000012048 | 2,755 | 2,755 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.236928 |
17 | 43,045,718 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.675032 | BRCA1 | 17 | 41,197,735 | T | A | NM_007294.3 | 5552 | A | T | c.5552A>T | 1,851 | D | V | p.D1851V | Missense | -0.675032 | FUNC | 0.003426 | X23 | 3 | 553 | 3,412 | 2,662 | 4,226 | 1,701 | 0.000018 | 0.001482 | 0.000978 | 0.000975 | 0.000967 | 0.000623 | -0.313389 | -0.156148 | -0.545735 | -0.389588 | -0.309943 | -0.10266 | -1.299629 | -1.196969 | -0.341608 | -1.008455 | 712 | 719 | 0.000605 | 0.000431 | -0.807575 | -1.559022 | -1.245983 | 26.8 | 0.103 | 0.918 | 0 | 71.64 | 0 | absent | absent | 0 | 0 | 0 | -1.223956 | -0.635848 | -0.929902 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,486 | ENSG00000012048 | 2,754 | 2,754 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | MODERATE_PLUS | 1 | -0.675032 |
17 | 43,045,718 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.328078 | BRCA1 | 17 | 41,197,735 | T | C | NM_007294.3 | 5552 | A | G | c.5552A>G | 1,851 | D | G | p.D1851G | Missense | -0.328078 | FUNC | 0.000028 | X23 | 1 | 436 | 3,906 | 1,861 | 4,024 | 2,690 | 0.000006 | 0.001169 | 0.001119 | 0.000682 | 0.000921 | 0.000985 | 0.224637 | -0.156148 | -0.719217 | -0.563069 | -0.037654 | -0.10266 | -0.295454 | -0.192795 | -0.493725 | -0.162431 | 2,113 | 2,032 | 0.001795 | 0.001218 | 0.566695 | 0.010477 | 0.213299 | 26 | 0.103 | 0.915 | 0.01 | 69.19 | 0 | absent | absent | 0 | 0 | 0 | 0.947611 | 0.311702 | 0.629657 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,486 | ENSG00000012048 | 2,754 | 2,754 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.328078 |
17 | 43,045,718 | T | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.243174 | BRCA1 | 17 | 41,197,735 | T | G | NM_007294.3 | 5552 | A | C | c.5552A>C | 1,851 | D | A | p.D1851A | Missense | -0.243174 | FUNC | 0.000009 | X23 | 2 | 620 | 4,091 | 2,754 | 5,584 | 4,220 | 0.000012 | 0.001662 | 0.001172 | 0.001009 | 0.001278 | 0.001546 | -0.216542 | -0.156148 | -0.661706 | -0.505558 | -0.072925 | -0.10266 | -0.153758 | -0.051098 | -0.443297 | -0.04305 | 1,021 | 885 | 0.000867 | 0.000531 | -0.549377 | -1.661343 | -1.128005 | 24 | 0.103 | 0.778 | 0.09 | 87.36 | 0 | absent | absent | 0 | 0 | 0 | -0.534551 | -0.151315 | -0.342933 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,486 | ENSG00000012048 | 2,754 | 2,754 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.243174 |
17 | 43,045,719 | C | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.636701 | BRCA1 | 17 | 41,197,736 | C | A | NM_007294.3 | 5551 | G | T | c.5551G>T | 1,851 | D | Y | p.D1851Y | Missense | -0.636701 | FUNC | 0.00197 | X23 | 2 | 471 | 2,536 | 1,997 | 3,020 | 1,780 | 0.000012 | 0.001263 | 0.000727 | 0.000732 | 0.000691 | 0.000652 | -0.509899 | -0.147192 | -0.728859 | -0.581667 | -0.563134 | -0.096513 | -1.002582 | -0.906069 | -0.510032 | -0.763369 | 1,232 | 2,239 | 0.001046 | 0.001342 | 0.411541 | 0.564513 | 0.422211 | 32 | 1.474 | 0.973 | 0 | 77.44 | 0 | absent | absent | 0 | 0 | 0 | -0.851787 | -0.651456 | -0.751621 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,487 | ENSG00000012048 | 2,753 | 2,753 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.636701 |
17 | 43,045,719 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.044297 | BRCA1 | 17 | 41,197,736 | C | G | NM_007294.3 | 5551 | G | C | c.5551G>C | 1,851 | D | H | p.D1851H | Missense | -0.044297 | FUNC | 0.000001 | X23 | 3 | 551 | 3,726 | 2,609 | 6,267 | 4,920 | 0.000018 | 0.001477 | 0.001068 | 0.000956 | 0.001434 | 0.001802 | -0.181152 | -0.147192 | -0.569522 | -0.42233 | 0.263767 | -0.096513 | 0.237874 | 0.334387 | -0.370318 | 0.281723 | 821 | 2,894 | 0.000697 | 0.001735 | -0.72908 | -0.118503 | -0.438203 | 28.4 | 1.474 | 0.957 | 0 | 120.86 | 0 | absent | absent | 0 | 0 | 0 | 0.961531 | 0.144857 | 0.553194 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,487 | ENSG00000012048 | 2,753 | 2,753 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.044297 |
17 | 43,045,719 | C | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.253026 | BRCA1 | 17 | 41,197,736 | C | T | NM_007294.3 | 5551 | G | A | c.5551G>A | 1,851 | D | N | p.D1851N | Missense | -0.253026 | FUNC | 0.00001 | X23 | 6 | 443 | 4,951 | 2,204 | 3,196 | 2,665 | 0.000035 | 0.001187 | 0.001419 | 0.000808 | 0.000731 | 0.000976 | 0.543686 | -0.147192 | -0.498149 | -0.350957 | -0.392995 | -0.096513 | -0.331904 | -0.23539 | -0.307735 | -0.198318 | 868 | 1,314 | 0.000737 | 0.000788 | -1.058859 | -0.286095 | -0.660596 | 32 | 1.474 | 0.778 | 0.01 | 120.86 | 0 | absent | absent | 0 | 0 | 0 | -0.589234 | -0.32969 | -0.459462 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,487 | ENSG00000012048 | 2,753 | 2,753 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.253026 |
17 | 43,045,721 | A | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.185898 | BRCA1 | 17 | 41,197,738 | A | C | NM_007294.3 | 5549 | T | G | c.5549T>G | 1,850 | L | R | p.L1850R | Missense | -0.185898 | FUNC | 0.000004 | X23 | 2 | 356 | 2,650 | 1,556 | 3,565 | 2,647 | 0.000012 | 0.000954 | 0.000759 | 0.00057 | 0.000816 | 0.00097 | -0.042612 | -0.15148 | -0.685002 | -0.533521 | 0.080069 | -0.14022 | -0.026251 | 0.113969 | -0.467816 | 0.096019 | 1,082 | 655 | 0.000919 | 0.000393 | 0.160802 | -1.448129 | -0.577504 | 29.3 | 2.232 | 0.998 | 0 | -74.87 | 45 | absent | absent | 0 | 0 | 0 | 0.206275 | 0.114232 | 0.160254 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,489 | ENSG00000012048 | 2,751 | 2,751 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.185898 |
17 | 43,045,721 | A | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.106617 | BRCA1 | 17 | 41,197,738 | A | G | NM_007294.3 | 5549 | T | C | c.5549T>C | 1,850 | L | P | p.L1850P | Missense | 0.106617 | FUNC | 0 | X23 | 4 | 458 | 3,798 | 2,996 | 5,819 | 3,622 | 0.000024 | 0.001228 | 0.001088 | 0.001098 | 0.001331 | 0.001327 | 0.113165 | -0.15148 | -0.103276 | 0.048204 | 0.423468 | -0.14022 | 0.062707 | 0.202927 | 0.042267 | 0.170967 | 2,804 | 3,462 | 0.002382 | 0.002076 | 1.01534 | 0.247041 | 0.569897 | 31 | 2.232 | 0.999 | 0 | -73.56 | 35 | absent | absent | 0 | 0 | 0 | -0.040163 | 0.254335 | 0.107086 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,489 | ENSG00000012048 | 2,751 | 2,751 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.106617 |
17 | 43,045,721 | A | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.63565 | BRCA1 | 17 | 41,197,738 | A | T | NM_007294.3 | 5549 | T | A | c.5549T>A | 1,850 | L | Q | p.L1850Q | Missense | -0.63565 | FUNC | 0.001941 | X23 | 2 | 516 | 3,108 | 1,799 | 3,314 | 2,316 | 0.000012 | 0.001383 | 0.000891 | 0.000659 | 0.000758 | 0.000848 | -0.348112 | -0.15148 | -1.011142 | -0.859662 | -0.560753 | -0.14022 | -0.754468 | -0.614248 | -0.753791 | -0.517508 | 959 | 1,033 | 0.000815 | 0.000619 | -0.24329 | -0.685527 | -0.544034 | 28.9 | 2.232 | 0.998 | 0 | -86.75 | 45 | absent | absent | 0 | 0 | 0 | -1.149413 | -0.083632 | -0.616523 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,489 | ENSG00000012048 | 2,751 | 2,751 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.63565 |
17 | 43,045,722 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.406771 | BRCA1 | 17 | 41,197,739 | G | C | NM_007294.3 | 5548 | C | G | c.5548C>G | 1,850 | L | V | p.L1850V | Missense | -0.406771 | FUNC | 0.000079 | X23 | 3 | 432 | 4,262 | 2,574 | 2,765 | 1,601 | 0.000018 | 0.001158 | 0.001221 | 0.000943 | 0.000633 | 0.000586 | 0.363772 | -0.135403 | -0.237986 | -0.102583 | -0.565708 | -0.171933 | -1.03079 | -0.858858 | -0.089949 | -0.723594 | 1,529 | 1,232 | 0.001299 | 0.000739 | -0.025848 | -0.170071 | -0.178314 | 25.7 | 0.813 | 0.98 | 0 | -7.79 | 0 | absent | absent | 0 | 0 | 0 | -0.515518 | -0.171288 | -0.343403 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,490 | ENSG00000012048 | 2,750 | 2,750 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.406771 |
17 | 43,045,722 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.168903 | BRCA1 | 17 | 41,197,739 | G | T | NM_007294.3 | 5548 | C | A | c.5548C>A | 1,850 | L | M | p.L1850M | Missense | 0.168903 | FUNC | 0 | X23 | 1 | 359 | 2,307 | 2,424 | 3,438 | 3,012 | 0.000006 | 0.000962 | 0.000661 | 0.000888 | 0.000787 | 0.001103 | -0.254693 | -0.135403 | -0.057561 | 0.077842 | 0.01563 | -0.171933 | 0.148006 | 0.319938 | 0.068256 | 0.26955 | 763 | 1,023 | 0.000648 | 0.000613 | -0.143169 | -0.752557 | -0.520362 | 26.2 | 0.813 | 0.998 | 0 | 11.7 | 0 | absent | absent | 0 | 0 | 0 | 1.564277 | -0.286377 | 0.63895 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,490 | ENSG00000012048 | 2,750 | 2,750 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.168903 |
17 | 43,045,723 | C | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.08409 | BRCA1 | 17 | 41,197,740 | C | A | NM_007294.3 | 5547 | G | T | c.5547G>T | 1,849 | E | D | p.E1849D | Missense | -0.08409 | FUNC | 0.000001 | X23 | 2 | 348 | 2,312 | 2,358 | 2,585 | 1,919 | 0.000012 | 0.000933 | 0.000663 | 0.000864 | 0.000591 | 0.000703 | -0.206673 | -0.117905 | -0.05249 | 0.065415 | -0.350879 | -0.189766 | -0.457465 | -0.267699 | 0.057359 | -0.225538 | 898 | 799 | 0.000763 | 0.000479 | 0.08874 | -0.69769 | -0.364219 | 25.2 | 0.643 | 0.98 | 0.18 | 139.38 | 0 | absent | absent | 0 | 0 | 0 | 0.284953 | 0.578959 | 0.431956 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,491 | ENSG00000012048 | 2,749 | 2,749 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.08409 |
17 | 43,045,723 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.151566 | BRCA1 | 17 | 41,197,740 | C | G | NM_007294.3 | 5547 | G | C | c.5547G>C | 1,849 | E | D | p.E1849D | Missense | 0.151566 | FUNC | 0 | X23 | 2 | 465 | 3,136 | 4,014 | 3,439 | 2,937 | 0.000012 | 0.001246 | 0.000899 | 0.001471 | 0.000787 | 0.001076 | -0.185032 | -0.117905 | 0.296843 | 0.414748 | -0.357197 | -0.189766 | -0.26162 | -0.071854 | 0.36367 | -0.060537 | 2,187 | 1,565 | 0.001858 | 0.000938 | 0.933121 | -0.13962 | 0.36872 | 24.5 | 0.643 | 0.98 | 0.18 | 139.38 | 0 | absent | absent | 0 | 0 | 0 | -0.450094 | 0.304325 | -0.072885 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,491 | ENSG00000012048 | 2,749 | 2,749 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.151566 |
17 | 43,045,724 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.444983 | BRCA1 | 17 | 41,197,741 | T | C | NM_007294.3 | 5546 | A | G | c.5546A>G | 1,849 | E | G | p.E1849G | Missense | -0.444983 | FUNC | 0.000134 | X23 | 1 | 480 | 4,219 | 2,538 | 4,315 | 1,890 | 0.000006 | 0.001287 | 0.001209 | 0.00093 | 0.000987 | 0.000692 | 0.19714 | -0.115499 | -0.410309 | -0.29481 | -0.07563 | -0.193875 | -0.943381 | -0.749506 | -0.258503 | -0.631464 | 878 | 849 | 0.000746 | 0.000509 | -0.811514 | -1.349317 | -1.156555 | 25.4 | 2.232 | 0.999 | 0.12 | 109.49 | 0 | absent | absent | 0 | 0 | 0 | -0.52811 | -0.271392 | -0.399751 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,492 | ENSG00000012048 | 2,748 | 2,748 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.444983 |
17 | 43,045,724 | T | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.184978 | BRCA1 | 17 | 41,197,741 | T | G | NM_007294.3 | 5546 | A | C | c.5546A>C | 1,849 | E | A | p.E1849A | Missense | -1.184978 | INT | 0.901696 | X23 | 3 | 452 | 3,252 | 1,297 | 3,455 | 995 | 0.000018 | 0.001212 | 0.000932 | 0.000475 | 0.000791 | 0.000364 | -0.091723 | -0.115499 | -1.292111 | -1.176612 | -0.309593 | -0.193875 | -1.782287 | -1.588412 | -1.031707 | -1.338248 | 117 | 431 | 0.000099 | 0.000258 | -3.343653 | -2.006719 | -2.541769 | 28.8 | 2.232 | 0.998 | 0.01 | 116.67 | 0 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,492 | ENSG00000012048 | 2,748 | 2,748 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | intermediate | abnormal | ExCALIBR calibration | MODERATE | 1 | -1.184978 |
17 | 43,045,725 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.047025 | BRCA1 | 17 | 41,197,742 | C | G | NM_007294.3 | 5545 | G | C | c.5545G>C | 1,849 | E | Q | p.E1849Q | Missense | 0.047025 | FUNC | 0 | X23 | 3 | 500 | 3,559 | 2,706 | 4,637 | 4,293 | 0.000018 | 0.00134 | 0.00102 | 0.000992 | 0.001061 | 0.001573 | -0.107183 | -0.12027 | -0.376733 | -0.256463 | -0.030692 | -0.197222 | 0.181326 | 0.378547 | -0.224879 | 0.318929 | 1,403 | 3,546 | 0.001192 | 0.002126 | 0.110137 | 0.609207 | 0.329584 | 26.1 | 0.775 | 0.997 | 0.01 | 139.38 | 0 | absent | absent | 0 | 0 | 0 | 0.095604 | -0.454478 | -0.179437 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,493 | ENSG00000012048 | 2,747 | 2,747 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.047025 |
17 | 43,045,725 | C | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.142875 | BRCA1 | 17 | 41,197,742 | C | T | NM_007294.3 | 5545 | G | A | c.5545G>A | 1,849 | E | K | p.E1849K | Missense | -0.142875 | FUNC | 0.000003 | X23 | 1 | 540 | 3,930 | 3,078 | 3,998 | 3,214 | 0.000006 | 0.001447 | 0.001126 | 0.001128 | 0.000915 | 0.001177 | -0.075157 | -0.12027 | -0.301933 | -0.181663 | -0.355637 | -0.197222 | -0.347322 | -0.1501 | -0.15929 | -0.12646 | 3,277 | 1,969 | 0.002783 | 0.001181 | 1.19094 | -0.025609 | 0.575576 | 32 | 0.775 | 0.997 | 0.01 | 139.38 | 0 | absent | absent | 0 | 0 | 0 | 0.349773 | -0.006701 | 0.171536 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,493 | ENSG00000012048 | 2,747 | 2,747 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.142875 |
17 | 43,045,726 | C | A | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.180843 | BRCA1 | 17 | 41,197,743 | C | A | NM_007294.3 | 5544 | G | T | c.5544G>T | 1,848 | Q | H | p.Q1848H | Missense | -1.180843 | INT | 0.895522 | X23 | 3 | 463 | 3,734 | 1,443 | 3,225 | 933 | 0.000018 | 0.001241 | 0.00107 | 0.000529 | 0.000738 | 0.000342 | 0.072983 | -0.12471 | -1.172907 | -1.048198 | -0.443669 | -0.19755 | -1.909796 | -1.712245 | -0.919108 | -1.442579 | 231 | 1,729 | 0.000196 | 0.001037 | -2.561663 | 0.096845 | -0.668545 | 29.4 | 1.469 | 0.969 | 0 | 37.74 | 0 | absent | absent | 0 | 0 | 0 | -2.260129 | -1.084331 | -1.67223 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,494 | ENSG00000012048 | 2,746 | 2,746 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | intermediate | abnormal | ExCALIBR calibration | MODERATE | 1 | -1.180843 |
17 | 43,045,726 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.607001 | BRCA1 | 17 | 41,197,743 | C | G | NM_007294.3 | 5544 | G | C | c.5544G>C | 1,848 | Q | H | p.Q1848H | Missense | -0.607001 | FUNC | 0.001288 | X23 | 8 | 419 | 4,339 | 1,680 | 3,993 | 1,670 | 0.000047 | 0.001123 | 0.001243 | 0.000616 | 0.000914 | 0.000612 | 0.433685 | -0.12471 | -0.809456 | -0.684746 | 0.008567 | -0.19755 | -0.925835 | -0.728284 | -0.600417 | -0.613585 | 738 | 815 | 0.000627 | 0.000489 | -1.102576 | -1.296394 | -1.280786 | 28.3 | 1.469 | 0.969 | 0 | 37.74 | 0 | absent | absent | 0 | 0 | 0 | -0.579995 | 0.160474 | -0.209761 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,494 | ENSG00000012048 | 2,746 | 2,746 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.607001 |
17 | 43,045,727 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.101285 | BRCA1 | 17 | 41,197,744 | T | A | NM_007294.3 | 5543 | A | T | c.5543A>T | 1,848 | Q | L | p.Q1848L | Missense | -0.101285 | FUNC | 0.000001 | X23 | 3 | 474 | 3,485 | 3,111 | 4,216 | 2,615 | 0.000018 | 0.001271 | 0.000999 | 0.00114 | 0.000965 | 0.000958 | -0.060455 | -0.121311 | -0.098475 | 0.022836 | -0.090968 | -0.192603 | -0.456808 | -0.264205 | 0.020024 | -0.222595 | 1,802 | 2,197 | 0.001531 | 0.001317 | 0.501534 | 0.055867 | 0.199173 | 29 | 1.052 | 0.912 | 0 | -58.22 | 25 | absent | absent | 0 | 0 | 0 | 0.002557 | -0.189803 | -0.093623 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,495 | ENSG00000012048 | 2,745 | 2,745 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.101285 |
17 | 43,045,727 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.251439 | BRCA1 | 17 | 41,197,744 | T | C | NM_007294.3 | 5543 | A | G | c.5543A>G | 1,848 | Q | R | p.Q1848R | Missense | 0.251439 | FUNC | 0 | X23 | 4 | 383 | 2,892 | 3,226 | 3,185 | 2,912 | 0.000024 | 0.001027 | 0.000829 | 0.001182 | 0.000729 | 0.001067 | -0.022004 | -0.121311 | 0.261436 | 0.382747 | -0.188007 | -0.192603 | 0.005934 | 0.198537 | 0.33561 | 0.167269 | 1,465 | 934 | 0.001244 | 0.00056 | 0.471927 | -0.773592 | -0.15331 | 23.8 | 1.052 | 0.959 | 0.15 | 42.81 | 0 | absent | absent | 0 | 0 | 0 | 0.77143 | -0.036635 | 0.367398 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,495 | ENSG00000012048 | 2,745 | 2,745 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.251439 |
17 | 43,045,727 | T | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.749799 | BRCA1 | 17 | 41,197,744 | T | G | NM_007294.3 | 5543 | A | C | c.5543A>C | 1,848 | Q | P | p.Q1848P | Missense | -1.749799 | LOF | 0.999994 | X23 | 1 | 501 | 3,496 | 1,667 | 2,455 | 372 | 0.000006 | 0.001343 | 0.001002 | 0.000611 | 0.000562 | 0.000136 | -0.135832 | -0.121311 | -1.078523 | -0.957212 | -0.951043 | -0.192603 | -3.350168 | -3.157565 | -0.839327 | -2.66027 | 368 | 1,935 | 0.000313 | 0.00116 | -1.794834 | 0.652817 | -0.086595 | 23.5 | 1.052 | 0.157 | 0 | -26.37 | 15 | absent | absent | 0 | 0 | 0 | -3.570937 | -1.615194 | -2.593066 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,495 | ENSG00000012048 | 2,745 | 2,745 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.749799 |
17 | 43,045,728 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.353074 | BRCA1 | 17 | 41,197,745 | G | C | NM_007294.3 | 5542 | C | G | c.5542C>G | 1,848 | Q | E | p.Q1848E | Missense | -0.353074 | FUNC | 0.000039 | X23 | 2 | 584 | 3,910 | 3,646 | 5,388 | 2,300 | 0.000012 | 0.001565 | 0.00112 | 0.001336 | 0.001233 | 0.000843 | -0.195527 | -0.09336 | -0.17062 | -0.07726 | -0.038174 | -0.185326 | -0.943067 | -0.757741 | -0.067745 | -0.638402 | 1,771 | 2,934 | 0.001504 | 0.001759 | 0.310489 | 0.119326 | 0.133647 | 25.9 | 2.766 | 0.746 | 0 | 13.54 | 0 | absent | absent | 0 | 0 | 0 | -0.49893 | -1.182463 | -0.840697 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,496 | ENSG00000012048 | 2,744 | 2,744 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.353074 |
17 | 43,045,728 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.065825 | BRCA1 | 17 | 41,197,745 | G | T | NM_007294.3 | 5542 | C | A | c.5542C>A | 1,848 | Q | K | p.Q1848K | Missense | 0.065825 | FUNC | 0 | X23 | 2 | 444 | 2,696 | 2,461 | 4,628 | 3,943 | 0.000012 | 0.00119 | 0.000773 | 0.000902 | 0.001059 | 0.001444 | -0.336466 | -0.09336 | -0.342282 | -0.248921 | 0.137873 | -0.185326 | 0.230002 | 0.415327 | -0.218265 | 0.349916 | 946 | 3,251 | 0.000804 | 0.001949 | -0.057815 | 0.486701 | 0.190505 | 27.8 | 2.766 | 0.764 | 0.01 | 17.3 | 0 | absent | absent | 0 | 0 | 0 | 0.696317 | 0.516278 | 0.606297 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,496 | ENSG00000012048 | 2,744 | 2,744 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.065825 |
17 | 43,045,729 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.127904 | BRCA1 | 17 | 41,197,746 | G | C | NM_007294.3 | 5541 | C | G | c.5541C>G | 1,847 | C | W | p.C1847W | Missense | -0.127904 | FUNC | 0.000002 | X23 | 1 | 381 | 2,791 | 2,757 | 2,963 | 1,901 | 0.000006 | 0.001021 | 0.0008 | 0.00101 | 0.000678 | 0.000696 | -0.065736 | -0.081641 | 0.042342 | 0.123983 | -0.284688 | -0.1691 | -0.601765 | -0.432664 | 0.108714 | -0.364523 | 2,199 | 1,654 | 0.001868 | 0.000992 | 1.109159 | 0.155107 | 0.58932 | 29 | 1.448 | 0.987 | 0.01 | 182.66 | 0 | absent | absent | 0.000004 | 0 | 0 | 0.341395 | -1.073808 | -0.366206 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,497 | ENSG00000012048 | 2,743 | 2,743 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.127904 |
17 | 43,045,730 | C | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.497292 | BRCA1 | 17 | 41,197,747 | C | A | NM_007294.3 | 5540 | G | T | c.5540G>T | 1,847 | C | F | p.C1847F | Missense | -0.497292 | FUNC | 0.000275 | X23 | 1 | 463 | 2,860 | 2,044 | 3,353 | 2,165 | 0.000006 | 0.001241 | 0.00082 | 0.000749 | 0.000767 | 0.000793 | -0.311724 | -0.075647 | -0.670583 | -0.594936 | -0.387516 | -0.134056 | -0.695378 | -0.561321 | -0.521668 | -0.472917 | 1,126 | 2,889 | 0.000956 | 0.001732 | 0.108285 | 0.781324 | 0.440036 | 30 | 1.452 | 0.947 | 0.01 | 221.16 | 0 | absent | absent | 0.000032 | 0 | 0 | -0.606095 | 0.099159 | -0.253468 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,498 | ENSG00000012048 | 2,742 | 2,742 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.497292 |
17 | 43,045,730 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.087587 | BRCA1 | 17 | 41,197,747 | C | G | NM_007294.3 | 5540 | G | C | c.5540G>C | 1,847 | C | S | p.C1847S | Missense | -0.087587 | FUNC | 0.000001 | X23 | 4 | 372 | 2,709 | 2,301 | 2,814 | 2,403 | 0.000024 | 0.000997 | 0.000776 | 0.000843 | 0.000644 | 0.00088 | -0.074269 | -0.075647 | -0.184008 | -0.108361 | -0.324636 | -0.134056 | -0.229198 | -0.095142 | -0.095016 | -0.080158 | 809 | 776 | 0.000687 | 0.000465 | -0.290455 | -0.862287 | -0.650889 | 26.2 | 1.452 | 0.824 | 0.01 | 229.27 | 0 | absent | absent | 0 | 0 | 0 | 0.552456 | -0.632761 | -0.040153 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,498 | ENSG00000012048 | 2,742 | 2,742 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.087587 |
17 | 43,045,730 | C | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.137717 | BRCA1 | 17 | 41,197,747 | C | T | NM_007294.3 | 5540 | G | A | c.5540G>A | 1,847 | C | Y | p.C1847Y | Missense | 0.137717 | FUNC | 0 | X23 | 3 | 376 | 2,852 | 2,590 | 3,275 | 3,146 | 0.000018 | 0.001008 | 0.000817 | 0.000949 | 0.000749 | 0.001152 | -0.015486 | -0.075647 | -0.028747 | 0.0469 | -0.121194 | -0.134056 | 0.144054 | 0.27811 | 0.041124 | 0.23431 | 1,951 | 2,933 | 0.001657 | 0.001758 | 0.905334 | 0.837089 | 0.793129 | 28.3 | 1.452 | 0.972 | 0.01 | 217.11 | 0 | absent | absent | 0 | 0 | 0 | 0.554238 | -0.414496 | 0.069871 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,498 | ENSG00000012048 | 2,742 | 2,742 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.137717 |
17 | 43,045,731 | A | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.051867 | BRCA1 | 17 | 41,197,748 | A | C | NM_007294.3 | 5539 | T | G | c.5539T>G | 1,847 | C | G | p.C1847G | Missense | -0.051867 | FUNC | 0.000001 | X23 | 1 | 280 | 2,083 | 1,973 | 1,999 | 1,717 | 0.000006 | 0.000751 | 0.000597 | 0.000723 | 0.000457 | 0.000629 | -0.043491 | -0.087574 | 0.003998 | 0.091571 | -0.408104 | -0.08584 | -0.304269 | -0.218429 | 0.080294 | -0.184028 | 1,189 | 348 | 0.00101 | 0.000209 | 0.64418 | -1.525913 | -0.232901 | 24.4 | 0.483 | 0.913 | 0.04 | 199.89 | 0 | absent | absent | 0 | 0 | 0 | 0.100898 | 1.454821 | 0.77786 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,499 | ENSG00000012048 | 2,741 | 2,741 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.051867 |
17 | 43,045,731 | A | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.255109 | BRCA1 | 17 | 41,197,748 | A | G | NM_007294.3 | 5539 | T | C | c.5539T>C | 1,847 | C | R | p.C1847R | Missense | 0.255109 | FUNC | 0 | X23 | 2 | 425 | 3,667 | 3,006 | 5,435 | 4,302 | 0.000012 | 0.001139 | 0.001051 | 0.001101 | 0.001244 | 0.001576 | 0.17041 | -0.087574 | 0.009416 | 0.096989 | 0.432861 | -0.08584 | 0.418812 | 0.504652 | 0.085045 | 0.425173 | 1,752 | 1,780 | 0.001488 | 0.001067 | 0.387496 | -0.614196 | -0.150505 | 23.6 | 0.483 | 0.972 | 0.18 | 229.27 | 0 | absent | absent | 0 | 0 | 0 | 0.691182 | 0.232855 | 0.462018 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,499 | ENSG00000012048 | 2,741 | 2,741 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.255109 |
17 | 43,045,731 | A | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.100741 | BRCA1 | 17 | 41,197,748 | A | T | NM_007294.3 | 5539 | T | A | c.5539T>A | 1,847 | C | S | p.C1847S | Missense | -0.100741 | FUNC | 0.000001 | X23 | 2 | 378 | 3,074 | 3,323 | 3,831 | 1,699 | 0.000012 | 0.001013 | 0.000881 | 0.001218 | 0.000877 | 0.000622 | 0.085004 | -0.087574 | 0.323134 | 0.410707 | 0.097379 | -0.08584 | -0.752433 | -0.666593 | 0.360127 | -0.561609 | 1,269 | 1,463 | 0.001078 | 0.000877 | 0.176669 | -0.392585 | -0.182606 | 24.8 | 0.483 | 0.824 | 0.01 | 229.27 | 0 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,499 | ENSG00000012048 | 2,741 | 2,741 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.100741 |
17 | 43,045,732 | C | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.228948 | BRCA1 | 17 | 41,197,749 | C | A | NM_007294.3 | 5538 | G | T | c.5538G>T | 1,846 | Q | H | p.Q1846H | Missense | -0.228948 | FUNC | 0.000008 | X23 | 1 | 387 | 5,284 | 2,285 | 3,297 | 2,191 | 0.000006 | 0.001037 | 0.001514 | 0.000837 | 0.000754 | 0.000803 | 0.83257 | -0.097103 | -0.251106 | -0.154003 | -0.153136 | -0.036263 | -0.419476 | -0.383214 | -0.135037 | -0.32286 | 266 | 361 | 0.000226 | 0.000216 | -2.859038 | -2.194876 | -2.533134 | 27.6 | 0.112 | 0.993 | 0 | 96.44 | 0 | absent | absent | 0 | 0 | 0 | -0.076692 | -0.349386 | -0.213039 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,500 | ENSG00000012048 | 2,740 | 2,740 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.228948 |
17 | 43,045,732 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.27365 | BRCA1 | 17 | 41,197,749 | C | G | NM_007294.3 | 5538 | G | C | c.5538G>C | 1,846 | Q | H | p.Q1846H | Missense | -0.27365 | FUNC | 0.000013 | X23 | 5 | 478 | 2,828 | 2,862 | 4,068 | 2,478 | 0.000029 | 0.001281 | 0.00081 | 0.001049 | 0.000931 | 0.000908 | -0.373956 | -0.097103 | -0.230953 | -0.13385 | -0.154647 | -0.036263 | -0.546567 | -0.510304 | -0.117366 | -0.429935 | 1,363 | 1,253 | 0.001158 | 0.000751 | 0.400097 | -0.702727 | -0.175237 | 26.7 | 0.112 | 0.993 | 0 | 96.44 | 0 | Uncertain significance | Uncertain significance | 0.000004 | 0.000024 | 0 | 1.290015 | 0.647884 | 0.96895 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,500 | ENSG00000012048 | 2,740 | 2,740 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.27365 |
17 | 43,045,733 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.098458 | BRCA1 | 17 | 41,197,750 | T | A | NM_007294.3 | 5537 | A | T | c.5537A>T | 1,846 | Q | L | p.Q1846L | Missense | 0.098458 | FUNC | 0 | X23 | 3 | 581 | 4,516 | 3,703 | 5,891 | 5,273 | 0.000018 | 0.001557 | 0.001294 | 0.001357 | 0.001348 | 0.001932 | 0.01978 | -0.124871 | -0.14081 | -0.015939 | 0.098019 | 0.011038 | 0.261353 | 0.250315 | -0.013976 | 0.210892 | 2,275 | 2,343 | 0.001932 | 0.001405 | 0.463915 | -0.333949 | 0.006245 | 27.1 | 0.492 | 0.985 | 0 | 32.42 | 0 | absent | absent | 0 | 0 | 0 | 0.38392 | 0.408221 | 0.396071 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,501 | ENSG00000012048 | 2,739 | 2,739 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.098458 |
17 | 43,045,733 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.280154 | BRCA1 | 17 | 41,197,750 | T | C | NM_007294.3 | 5537 | A | G | c.5537A>G | 1,846 | Q | R | p.Q1846R | Missense | 0.280154 | FUNC | 0 | X23 | 2 | 449 | 3,029 | 2,661 | 5,046 | 5,927 | 0.000012 | 0.001204 | 0.000868 | 0.000975 | 0.001155 | 0.002171 | -0.184601 | -0.124871 | -0.245713 | -0.120842 | 0.246469 | 0.011038 | 0.801854 | 0.790816 | -0.10596 | 0.666268 | 1,533 | 2,010 | 0.001302 | 0.001205 | 0.47061 | -0.331738 | 0.011099 | 23.3 | 0.492 | 0.984 | 0.17 | 96.44 | 0 | absent | absent | 0 | 0 | 0 | -0.025119 | -0.395331 | -0.210225 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,501 | ENSG00000012048 | 2,739 | 2,739 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.280154 |
17 | 43,045,733 | T | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.966089 | BRCA1 | 17 | 41,197,750 | T | G | NM_007294.3 | 5537 | A | C | c.5537A>C | 1,846 | Q | P | p.Q1846P | Missense | -1.966089 | LOF | 1 | X23 | 6 | 531 | 2,642 | 1,087 | 2,776 | 526 | 0.000035 | 0.001423 | 0.000757 | 0.000398 | 0.000635 | 0.000193 | -0.623808 | -0.124871 | -1.779326 | -1.654455 | -0.85766 | 0.011038 | -2.93431 | -2.945348 | -1.450702 | -2.481476 | 835 | 621 | 0.000709 | 0.000372 | -0.208689 | -1.164136 | -0.729065 | 25.6 | 0.492 | 0.996 | 0 | 65.98 | 0 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,501 | ENSG00000012048 | 2,739 | 2,739 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.966089 |
17 | 43,045,734 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.193852 | BRCA1 | 17 | 41,197,751 | G | C | NM_007294.3 | 5536 | C | G | c.5536C>G | 1,846 | Q | E | p.Q1846E | Missense | -0.193852 | FUNC | 0.000005 | X23 | 2 | 413 | 4,656 | 2,164 | 3,633 | 2,879 | 0.000012 | 0.001107 | 0.001334 | 0.000793 | 0.000831 | 0.001055 | 0.556222 | -0.117427 | -0.423408 | -0.305981 | -0.106936 | 0.022421 | -0.119306 | -0.141727 | -0.268298 | -0.119406 | 1,468 | 6,165 | 0.001247 | 0.003696 | -0.212145 | 1.759146 | 1.09197 | 23.2 | 0.743 | 0.95 | 0.13 | 96.44 | 0 | absent | absent | 0 | 0 | 0 | 0.400192 | 0.227418 | 0.313805 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,502 | ENSG00000012048 | 2,738 | 2,738 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.193852 |
17 | 43,045,734 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.085173 | BRCA1 | 17 | 41,197,751 | G | T | NM_007294.3 | 5536 | C | A | c.5536C>A | 1,846 | Q | K | p.Q1846K | Missense | -0.085173 | FUNC | 0.000001 | X23 | 3 | 381 | 2,394 | 1,966 | 3,796 | 3,227 | 0.000018 | 0.001021 | 0.000686 | 0.00072 | 0.000869 | 0.001182 | -0.287095 | -0.117427 | -0.445494 | -0.328068 | 0.072733 | 0.022421 | 0.16167 | 0.139249 | -0.287665 | 0.117318 | 1,616 | 476 | 0.001373 | 0.000285 | 0.886098 | -1.99924 | -0.116008 | 26.2 | 0.743 | 0.966 | 0.01 | 96.44 | 0 | absent | absent | 0.000032 | 0 | 0 | 0.203906 | 0.083488 | 0.143697 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,502 | ENSG00000012048 | 2,738 | 2,738 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.085173 |
17 | 43,045,736 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.115163 | BRCA1 | 17 | 41,197,753 | T | A | NM_007294.3 | 5534 | A | T | c.5534A>T | 1,845 | Y | F | p.Y1845F | Missense | 0.115163 | FUNC | 0 | X23 | 2 | 354 | 2,990 | 3,205 | 3,151 | 2,377 | 0.000012 | 0.000949 | 0.000857 | 0.001174 | 0.000721 | 0.000871 | 0.139669 | -0.072784 | 0.365609 | 0.438393 | -0.089895 | 0.009539 | -0.17334 | -0.182879 | 0.384403 | -0.154077 | 797 | 1,565 | 0.000677 | 0.000938 | -0.4544 | -0.01344 | -0.271387 | 23.6 | 0.148 | 0.963 | 0.11 | 21.61 | 0 | absent | absent | 0 | 0 | 0 | 1.470646 | 0.254933 | 0.86279 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,504 | ENSG00000012048 | 2,736 | 2,736 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.115163 |
17 | 43,045,736 | T | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.041729 | BRCA1 | 17 | 41,197,753 | T | C | NM_007294.3 | 5534 | A | G | c.5534A>G | 1,845 | Y | C | p.Y1845C | Missense | 0.041729 | FUNC | 0 | X23 | 1 | 362 | 3,312 | 2,176 | 3,636 | 3,299 | 0.000006 | 0.00097 | 0.000949 | 0.000797 | 0.000832 | 0.001208 | 0.254986 | -0.072784 | -0.225278 | -0.152493 | 0.084407 | 0.009539 | 0.267307 | 0.257767 | -0.133713 | 0.217171 | 861 | 2,764 | 0.000731 | 0.001657 | -0.490524 | 0.600612 | 0.130019 | 24.7 | 0.148 | 0.995 | 0 | -170.1 | 55 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | 0.176881 | 0.123338 | 0.150109 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,504 | ENSG00000012048 | 2,736 | 2,736 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.041729 |
17 | 43,045,736 | T | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.224533 | BRCA1 | 17 | 41,197,753 | T | G | NM_007294.3 | 5534 | A | C | c.5534A>C | 1,845 | Y | S | p.Y1845S | Missense | -0.224533 | FUNC | 0.000007 | X23 | 4 | 504 | 3,914 | 3,418 | 5,334 | 2,614 | 0.000024 | 0.001351 | 0.001122 | 0.001252 | 0.00122 | 0.000958 | 0.018493 | -0.072784 | -0.051238 | 0.021546 | 0.159838 | 0.009539 | -0.545897 | -0.555436 | 0.018893 | -0.467959 | 1,008 | 943 | 0.000856 | 0.000565 | -0.504054 | -1.503681 | -1.041276 | 26 | 0.148 | 0.998 | 0 | -118.54 | 55 | absent | absent | 0 | 0 | 0 | 0.376944 | -0.259102 | 0.058921 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,504 | ENSG00000012048 | 2,736 | 2,736 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.224533 |
17 | 43,045,737 | A | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.811639 | BRCA1 | 17 | 41,197,754 | A | C | NM_007294.3 | 5533 | T | G | c.5533T>G | 1,845 | Y | D | p.Y1845D | Missense | -0.811639 | INT | 0.025268 | X23 | 2 | 382 | 3,063 | 1,862 | 3,184 | 1,093 | 0.000012 | 0.001024 | 0.000878 | 0.000682 | 0.000729 | 0.0004 | 0.064646 | -0.055709 | -0.527686 | -0.471977 | -0.184688 | 0.031498 | -1.404012 | -1.43551 | -0.413852 | -1.209427 | 865 | 2,972 | 0.000735 | 0.001782 | -0.37108 | 0.8968 | 0.379046 | 28 | 2.232 | 0.999 | 0 | -136.26 | 55 | absent | absent | 0 | 0 | 0 | -0.617139 | -0.760391 | -0.688765 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,505 | ENSG00000012048 | 2,735 | 2,735 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | intermediate | normal | ExCALIBR calibration | SUPPORTING | 1 | -0.811639 |
17 | 43,045,737 | A | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.121791 | BRCA1 | 17 | 41,197,754 | A | G | NM_007294.3 | 5533 | T | C | c.5533T>C | 1,845 | Y | H | p.Y1845H | Missense | 0.121791 | FUNC | 0 | X23 | 1 | 392 | 3,342 | 3,144 | 4,929 | 3,103 | 0.000006 | 0.001051 | 0.000958 | 0.001152 | 0.001128 | 0.001137 | 0.153131 | -0.055709 | 0.190781 | 0.24649 | 0.408486 | 0.031498 | 0.064078 | 0.032579 | 0.216133 | 0.027448 | 785 | 4,091 | 0.000667 | 0.002453 | -0.636853 | 0.727365 | 0.185652 | 25.1 | 2.232 | 0.993 | 0.06 | -59.82 | 35 | absent | absent | 0 | 0 | 0 | 0.03348 | 1.568129 | 0.800805 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,505 | ENSG00000012048 | 2,735 | 2,735 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.121791 |
17 | 43,045,737 | A | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.029241 | BRCA1 | 17 | 41,197,754 | A | T | NM_007294.3 | 5533 | T | A | c.5533T>A | 1,845 | Y | N | p.Y1845N | Missense | -0.029241 | FUNC | 0.000001 | X23 | 11 | 426 | 3,179 | 3,079 | 3,148 | 2,931 | 0.000065 | 0.001142 | 0.000911 | 0.001128 | 0.00072 | 0.001074 | -0.039007 | -0.055709 | 0.040642 | 0.096351 | -0.358374 | 0.031498 | -0.138193 | -0.169691 | 0.084485 | -0.142966 | 1,059 | 1,580 | 0.000899 | 0.000947 | -0.132777 | 0.001696 | -0.132702 | 28.4 | 2.232 | 0.999 | 0 | -118.35 | 55 | absent | absent | 0 | 0 | 0 | 0.423159 | 0.812592 | 0.617876 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,505 | ENSG00000012048 | 2,735 | 2,735 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.029241 |
17 | 43,045,739 | A | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.061581 | BRCA1 | 17 | 41,197,756 | A | C | NM_007294.3 | 5531 | T | G | c.5531T>G | 1,844 | L | R | p.L1844R | Missense | -0.061581 | FUNC | 0.000001 | X23 | 1 | 318 | 2,901 | 2,843 | 3,153 | 1,870 | 0.000006 | 0.000852 | 0.000831 | 0.001042 | 0.000721 | 0.000685 | 0.250797 | 0.034768 | 0.347421 | 0.312653 | 0.065743 | 0.106861 | -0.364721 | -0.471582 | 0.274148 | -0.397311 | 367 | 950 | 0.000312 | 0.00057 | -1.529605 | -0.734519 | -1.116245 | 26.8 | 1.002 | 0.986 | 0 | 191.78 | 0 | Conflicting interpretations of pathogenicity | Conflicting interpretations of pathogenicity | 0.00002 | 0 | 0.000304 | 0.323957 | 0.230751 | 0.277354 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,507 | ENSG00000012048 | 2,733 | 2,733 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.061581 |
17 | 43,045,739 | A | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.232682 | BRCA1 | 17 | 41,197,756 | A | G | NM_007294.3 | 5531 | T | C | c.5531T>C | 1,844 | L | P | p.L1844P | Missense | -0.232682 | FUNC | 0.000008 | X23 | 4 | 432 | 4,409 | 2,334 | 4,831 | 3,238 | 0.000024 | 0.001158 | 0.001263 | 0.000855 | 0.001105 | 0.001186 | 0.412693 | 0.034768 | -0.379193 | -0.413961 | 0.239335 | 0.106861 | -0.014661 | -0.121522 | -0.36298 | -0.102383 | 1,505 | 974 | 0.001278 | 0.000584 | -0.097594 | -1.314121 | -0.712951 | 27.1 | 1.002 | 0.993 | 0.01 | 216.6 | 0 | Uncertain significance | Uncertain significance | 0.000004 | 0 | 0 | -0.662669 | 0.800737 | 0.069034 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,507 | ENSG00000012048 | 2,733 | 2,733 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.232682 |
17 | 43,045,739 | A | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.312583 | BRCA1 | 17 | 41,197,756 | A | T | NM_007294.3 | 5531 | T | A | c.5531T>A | 1,844 | L | H | p.L1844H | Missense | -0.312583 | FUNC | 0.000022 | X23 | 1 | 330 | 2,569 | 2,875 | 3,131 | 1,319 | 0.000006 | 0.000885 | 0.000736 | 0.001053 | 0.000716 | 0.000483 | 0.022014 | 0.034768 | 0.310129 | 0.275361 | 0.002202 | 0.106861 | -0.921754 | -1.028615 | 0.241449 | -0.866615 | 1,123 | 1,832 | 0.000954 | 0.001098 | 0.259245 | 0.223003 | 0.164297 | 26.7 | 1.002 | 0.986 | 0 | 197.18 | 0 | absent | absent | 0 | 0 | 0 | -0.227635 | 0.091487 | -0.068074 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,507 | ENSG00000012048 | 2,733 | 2,733 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.312583 |
17 | 43,045,740 | G | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.170768 | BRCA1 | 17 | 41,197,757 | G | A | NM_007294.3 | 5530 | C | T | c.5530C>T | 1,844 | L | F | p.L1844F | Missense | -0.170768 | FUNC | 0.000004 | X23 | 2 | 402 | 3,112 | 2,860 | 3,853 | 2,614 | 0.000012 | 0.001078 | 0.000892 | 0.001048 | 0.000882 | 0.000958 | 0.01392 | 0.058029 | 0.017853 | -0.040176 | 0.016831 | 0.143898 | -0.219669 | -0.363567 | -0.035228 | -0.306308 | 311 | 1,342 | 0.000264 | 0.000805 | -1.869762 | -0.525391 | -1.062266 | 26.5 | 0.791 | 0.961 | 0.02 | 195.32 | 0 | absent | absent | 0 | 0 | 0 | 0.128152 | -0.280041 | -0.075944 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,508 | ENSG00000012048 | 2,732 | 2,732 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.170768 |
17 | 43,045,740 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.196109 | BRCA1 | 17 | 41,197,757 | G | C | NM_007294.3 | 5530 | C | G | c.5530C>G | 1,844 | L | V | p.L1844V | Missense | 0.196109 | FUNC | 0 | X23 | 2 | 435 | 3,447 | 4,130 | 4,776 | 3,831 | 0.000012 | 0.001166 | 0.000988 | 0.001513 | 0.001093 | 0.001403 | 0.047599 | 0.058029 | 0.43416 | 0.376131 | 0.212832 | 0.143898 | 0.217973 | 0.074075 | 0.329809 | 0.062409 | 1,244 | 2,044 | 0.001057 | 0.001225 | -0.017261 | -0.228201 | -0.204259 | 17.79 | 0.791 | 0.343 | 0.19 | 216.6 | 0 | absent | absent | 0 | 0 | 0 | 0.547322 | 0.940441 | 0.743882 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,508 | ENSG00000012048 | 2,732 | 2,732 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.196109 |
17 | 43,045,740 | G | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.26822 | BRCA1 | 17 | 41,197,757 | G | T | NM_007294.3 | 5530 | C | A | c.5530C>A | 1,844 | L | I | p.L1844I | Missense | -0.26822 | FUNC | 0.000013 | X23 | 2 | 439 | 2,712 | 2,502 | 3,859 | 3,063 | 0.000012 | 0.001177 | 0.000777 | 0.000917 | 0.000883 | 0.001122 | -0.311591 | 0.058029 | -0.302106 | -0.360135 | -0.10795 | 0.143898 | -0.118008 | -0.261906 | -0.315783 | -0.220658 | 915 | 1,093 | 0.000777 | 0.000655 | -0.11442 | -0.823727 | -0.535027 | 23.7 | 0.791 | 0.323 | 0.05 | 216.6 | 0 | Uncertain significance | Uncertain significance | 0.000032 | 0.000024 | 0 | -0.26914 | -0.598173 | -0.433657 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,508 | ENSG00000012048 | 2,732 | 2,732 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.26822 |
17 | 43,045,742 | G | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.377551 | BRCA1 | 17 | 41,197,759 | G | A | NM_007294.3 | 5528 | C | T | c.5528C>T | 1,843 | A | V | p.A1843V | Missense | -0.377551 | FUNC | 0.000053 | X23 | 1 | 397 | 2,792 | 2,193 | 3,206 | 2,410 | 0.000006 | 0.001064 | 0.0008 | 0.000804 | 0.000734 | 0.000883 | -0.124567 | 0.080856 | -0.3472 | -0.428056 | -0.23032 | 0.131915 | -0.318838 | -0.450754 | -0.375339 | -0.379763 | 838 | 541 | 0.000712 | 0.000324 | -0.283183 | -1.570867 | -0.922556 | 28.8 | 1.469 | 0.742 | 0 | 35.54 | 0 | absent | absent | 0.000004 | 0.000032 | 0 | 0.146958 | -0.50585 | -0.179446 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,510 | ENSG00000012048 | 2,730 | 2,730 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.377551 |
17 | 43,045,742 | G | C | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.356105 | BRCA1 | 17 | 41,197,759 | G | C | NM_007294.3 | 5528 | C | G | c.5528C>G | 1,843 | A | G | p.A1843G | Missense | -0.356105 | FUNC | 0.00004 | X23 | 1 | 394 | 3,001 | 2,014 | 3,987 | 2,686 | 0.000006 | 0.001056 | 0.00086 | 0.000738 | 0.000912 | 0.000984 | -0.009479 | 0.080856 | -0.459098 | -0.539954 | 0.095152 | 0.131915 | -0.151469 | -0.283384 | -0.473457 | -0.238753 | 915 | 1,041 | 0.000777 | 0.000624 | -0.260506 | -0.941127 | -0.668823 | 27.4 | 1.469 | 0.872 | 0 | 70.76 | 0 | absent | absent | 0 | 0 | 0 | 0.060493 | -0.120169 | -0.029838 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,510 | ENSG00000012048 | 2,730 | 2,730 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.356105 |
17 | 43,045,742 | G | T | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.819921 | BRCA1 | 17 | 41,197,759 | G | T | NM_007294.3 | 5528 | C | A | c.5528C>A | 1,843 | A | E | p.A1843E | Missense | -2.819921 | LOF | 1 | X23 | 3 | 419 | 2,357 | 323 | 2,195 | 355 | 0.000018 | 0.001123 | 0.000675 | 0.000118 | 0.000502 | 0.00013 | -0.446726 | 0.080856 | -3.188311 | -3.269167 | -0.854685 | 0.131915 | -3.159792 | -3.291707 | -2.866556 | -2.773286 | 313 | 144 | 0.000266 | 0.000086 | -1.459623 | -2.933874 | -2.158303 | 28.9 | 1.469 | 0.986 | 0 | 27.11 | 0 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -2.51307 | -3.816158 | -3.164614 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,510 | ENSG00000012048 | 2,730 | 2,730 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.819921 |
17 | 43,045,743 | C | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.060353 | BRCA1 | 17 | 41,197,760 | C | A | NM_007294.3 | 5527 | G | T | c.5527G>T | 1,843 | A | S | p.A1843S | Missense | 0.060353 | FUNC | 0 | X23 | 3 | 357 | 2,531 | 2,415 | 3,832 | 3,547 | 0.000018 | 0.000957 | 0.000725 | 0.000885 | 0.000877 | 0.001299 | -0.112944 | 0.082924 | -0.054867 | -0.137792 | 0.180218 | 0.105266 | 0.391943 | 0.286677 | -0.120822 | 0.241528 | 1,751 | 1,373 | 0.001487 | 0.000823 | 0.921565 | -0.484559 | 0.243937 | 25.2 | 1.413 | 0.949 | 0.15 | 99.13 | 0 | absent | absent | 0 | 0 | 0 | -0.246644 | -0.463364 | -0.355004 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,511 | ENSG00000012048 | 2,729 | 2,729 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.060353 |
17 | 43,045,743 | C | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.684527 | BRCA1 | 17 | 41,197,760 | C | G | NM_007294.3 | 5527 | G | C | c.5527G>C | 1,843 | A | P | p.A1843P | Missense | -2.684527 | LOF | 1 | X23 | 2 | 464 | 2,455 | 303 | 2,664 | 574 | 0.000012 | 0.001244 | 0.000704 | 0.000111 | 0.00061 | 0.00021 | -0.535129 | 0.082924 | -3.427702 | -3.510626 | -0.722487 | 0.105266 | -2.613735 | -2.719 | -3.078278 | -2.290776 | 516 | 680 | 0.000438 | 0.000408 | -0.797186 | -0.973781 | -0.966504 | 29.3 | 1.413 | 0.979 | 0 | 97.43 | 0 | Conflicting interpretations of pathogenicity | Conflicting interpretations of pathogenicity | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,511 | ENSG00000012048 | 2,729 | 2,729 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.684527 |
17 | 43,045,743 | C | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.062384 | BRCA1 | 17 | 41,197,760 | C | T | NM_007294.3 | 5527 | G | A | c.5527G>A | 1,843 | A | T | p.A1843T | Missense | -0.062384 | FUNC | 0.000001 | X23 | 1 | 448 | 3,676 | 3,014 | 3,946 | 3,658 | 0.000006 | 0.001201 | 0.001053 | 0.001104 | 0.000903 | 0.00134 | 0.097911 | 0.082924 | -0.062786 | -0.14571 | -0.105064 | 0.105266 | 0.108824 | 0.003558 | -0.127765 | 0.002998 | 1,275 | 2,872 | 0.001083 | 0.001722 | -0.074546 | 0.537871 | 0.217527 | 32 | 1.413 | 0.94 | 0 | 69.75 | 0 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,511 | ENSG00000012048 | 2,729 | 2,729 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.062384 |
17 | 43,045,745 | A | C | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.922434 | BRCA1 | 17 | 41,197,762 | A | C | NM_007294.3 | 5525 | T | G | c.5525T>G | 1,842 | V | G | p.V1842G | Missense | -1.922434 | LOF | 1 | X23 | 1 | 457 | 2,392 | 977 | 2,378 | 566 | 0.000006 | 0.001225 | 0.000685 | 0.000358 | 0.000544 | 0.000207 | -0.550704 | 0.059975 | -1.71673 | -1.776705 | -0.864401 | 0.102431 | -2.612053 | -2.714484 | -1.557897 | -2.286971 | 712 | 300 | 0.000605 | 0.00018 | -0.295174 | -1.990508 | -1.057548 | 27.4 | 2.232 | 0.948 | 0 | -77.01 | 35 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,513 | ENSG00000012048 | 2,727 | 2,727 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.922434 |
17 | 43,045,745 | A | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.494811 | BRCA1 | 17 | 41,197,762 | A | G | NM_007294.3 | 5525 | T | C | c.5525T>C | 1,842 | V | A | p.V1842A | Missense | -1.494811 | LOF | 0.999432 | X23 | 1 | 353 | 2,603 | 1,263 | 2,919 | 517 | 0.000006 | 0.000946 | 0.000746 | 0.000463 | 0.000668 | 0.000189 | -0.05622 | 0.059975 | -0.97378 | -1.033755 | -0.19615 | 0.102431 | -2.370164 | -2.472596 | -0.906444 | -2.083179 | 869 | 904 | 0.000738 | 0.000542 | -0.129653 | -0.694873 | -0.487112 | 27.6 | 2.232 | 0.735 | 0 | -32.65 | 25 | absent | absent | 0 | 0 | 0 | -2.28563 | -1.923207 | -2.104419 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,513 | ENSG00000012048 | 2,727 | 2,727 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.494811 |
17 | 43,045,745 | A | T | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.026893 | BRCA1 | 17 | 41,197,762 | A | T | NM_007294.3 | 5525 | T | A | c.5525T>A | 1,842 | V | E | p.V1842E | Missense | -2.026893 | LOF | 1 | X23 | 3 | 509 | 2,807 | 548 | 3,566 | 1,084 | 0.000018 | 0.001364 | 0.000804 | 0.000201 | 0.000816 | 0.000397 | -0.475364 | 0.059975 | -2.706384 | -2.766359 | -0.435315 | 0.102431 | -1.830033 | -1.932465 | -2.425671 | -1.628115 | 1,052 | 980 | 0.000894 | 0.000588 | 0.037199 | -0.867246 | -0.463333 | 32 | 2.232 | 0.89 | 0 | -89.55 | 35 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -0.934663 | -1.515084 | -1.224874 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,513 | ENSG00000012048 | 2,727 | 2,727 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.026893 |
17 | 43,045,746 | C | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.680209 | BRCA1 | 17 | 41,197,763 | C | A | NM_007294.3 | 5524 | G | T | c.5524G>T | 1,842 | V | L | p.V1842L | Missense | -0.680209 | FUNC | 0.003693 | X23 | 2 | 435 | 3,446 | 2,442 | 3,254 | 1,525 | 0.000012 | 0.001166 | 0.000988 | 0.000895 | 0.000745 | 0.000559 | 0.04718 | 0.046426 | -0.323919 | -0.370344 | -0.340757 | 0.11835 | -1.110939 | -1.229288 | -0.324735 | -1.035684 | 1,454 | 2,638 | 0.001235 | 0.001582 | 0.208198 | 0.693437 | 0.418924 | 21.7 | 0.091 | 0.103 | 0.06 | 31.78 | 0 | absent | absent | 0 | 0 | 0 | -2.316184 | -0.537279 | -1.426731 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,514 | ENSG00000012048 | 2,726 | 2,726 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | MODERATE_PLUS | 1 | -0.680209 |
17 | 43,045,746 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.370698 | BRCA1 | 17 | 41,197,763 | C | G | NM_007294.3 | 5524 | G | C | c.5524G>C | 1,842 | V | L | p.V1842L | Missense | -0.370698 | FUNC | 0.000049 | X23 | 1 | 404 | 2,943 | 2,840 | 3,221 | 1,865 | 0.000006 | 0.001083 | 0.000843 | 0.001041 | 0.000737 | 0.000683 | -0.073795 | 0.046426 | 0.000569 | -0.045857 | -0.248802 | 0.11835 | -0.713912 | -0.832262 | -0.040209 | -0.701186 | 741 | 2,959 | 0.000629 | 0.001774 | -0.536648 | 0.873808 | 0.321017 | 19.77 | 0.091 | 0.103 | 0.06 | 31.78 | 0 | absent | absent | 0 | 0 | 0 | -0.626267 | -0.423266 | -0.524766 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,514 | ENSG00000012048 | 2,726 | 2,726 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.370698 |
17 | 43,045,746 | C | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.018106 | BRCA1 | 17 | 41,197,763 | C | T | NM_007294.3 | 5524 | G | A | c.5524G>A | 1,842 | V | I | p.V1842I | Missense | -0.018106 | FUNC | 0.000001 | X23 | 3 | 335 | 2,352 | 2,813 | 2,969 | 2,296 | 0.000018 | 0.000898 | 0.000674 | 0.001031 | 0.000679 | 0.000841 | -0.127 | 0.046426 | 0.256982 | 0.210556 | -0.09614 | 0.11835 | -0.143771 | -0.26212 | 0.184625 | -0.220838 | 1,416 | 2,409 | 0.001203 | 0.001444 | 0.721027 | 0.694664 | 0.631442 | 18.91 | 0.091 | 0.015 | 0.16 | 31.78 | 0 | absent | absent | 0 | 0.000032 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,514 | ENSG00000012048 | 2,726 | 2,726 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.018106 |
17 | 43,045,747 | A | C | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.929568 | BRCA1 | 17 | 41,197,764 | A | C | NM_007294.3 | 5523 | T | G | c.5523T>G | 1,841 | S | R | p.S1841R | Missense | -2.929568 | LOF | 1 | X23 | 1 | 378 | 1,860 | 339 | 1,318 | 221 | 0.000006 | 0.001013 | 0.000533 | 0.000124 | 0.000302 | 0.000081 | -0.639811 | 0.032796 | -2.969996 | -3.002792 | -1.441992 | 0.134227 | -3.695 | -3.829227 | -2.632986 | -3.22615 | 133 | 1,585 | 0.000113 | 0.00095 | -2.352711 | 1.262339 | 0.413865 | 23.9 | -1.207 | 0.983 | 0 | -109.21 | 65 | absent | absent | 0 | 0 | 0 | -4.249019 | -3.940961 | -4.09499 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,515 | ENSG00000012048 | 2,725 | 2,725 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.929568 |
17 | 43,045,747 | A | T | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.460774 | BRCA1 | 17 | 41,197,764 | A | T | NM_007294.3 | 5523 | T | A | c.5523T>A | 1,841 | S | R | p.S1841R | Missense | -1.460774 | LOF | 0.998971 | X23 | 2 | 411 | 2,133 | 732 | 2,329 | 1,319 | 0.000012 | 0.001102 | 0.000611 | 0.000268 | 0.000533 | 0.000483 | -0.562981 | 0.032796 | -1.980189 | -2.012985 | -0.741384 | 0.134227 | -1.238426 | -1.372653 | -1.765078 | -1.156469 | 861 | 1,020 | 0.000731 | 0.000612 | 0.144295 | -0.194935 | -0.106937 | 23.9 | -1.207 | 0.983 | 0 | -109.21 | 65 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,515 | ENSG00000012048 | 2,725 | 2,725 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.460774 |
17 | 43,045,748 | C | A | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.185789 | BRCA1 | 17 | 41,197,765 | C | A | NM_007294.3 | 5522 | G | T | c.5522G>T | 1,841 | S | I | p.S1841I | Missense | -2.185789 | LOF | 1 | X23 | 1 | 370 | 2,079 | 606 | 1,974 | 393 | 0.000006 | 0.000992 | 0.000596 | 0.000222 | 0.000452 | 0.000144 | -0.448363 | 0.021765 | -2.101102 | -2.122867 | -0.828359 | 0.145727 | -2.833656 | -2.979384 | -1.861427 | -2.510151 | 357 | 691 | 0.000303 | 0.000414 | -1.0888 | -0.518158 | -0.823732 | 34 | 2.766 | 0.968 | 0 | -141.8 | 65 | absent | absent | 0 | 0 | 0 | null | null | null | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,516 | ENSG00000012048 | 2,724 | 2,724 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.185789 |
17 | 43,045,748 | C | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.863429 | BRCA1 | 17 | 41,197,765 | C | G | NM_007294.3 | 5522 | G | C | c.5522G>C | 1,841 | S | T | p.S1841T | Missense | -1.863429 | LOF | 0.999999 | X23 | 1 | 373 | 2,223 | 621 | 3,003 | 662 | 0.000006 | 0.001 | 0.000637 | 0.000228 | 0.000687 | 0.000243 | -0.363395 | 0.021765 | -2.077477 | -2.099242 | -0.234727 | 0.145727 | -2.093005 | -2.238732 | -1.840712 | -1.886147 | 1,385 | 1,845 | 0.001176 | 0.001106 | 0.770472 | 0.293423 | 0.453409 | 24.4 | 2.766 | 0.068 | 0 | -57.75 | 55 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -1.187313 | -1.464946 | -1.326129 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,516 | ENSG00000012048 | 2,724 | 2,724 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.863429 |
17 | 43,045,748 | C | T | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -2.262144 | BRCA1 | 17 | 41,197,765 | C | T | NM_007294.3 | 5522 | G | A | c.5522G>A | 1,841 | S | N | p.S1841N | Missense | -2.262144 | LOF | 1 | X23 | 3 | 347 | 1,712 | 459 | 1,771 | 406 | 0.000018 | 0.00093 | 0.000491 | 0.000168 | 0.000405 | 0.000149 | -0.63598 | 0.021765 | -2.409336 | -2.431101 | -0.892327 | 0.145727 | -2.694116 | -2.839844 | -2.131701 | -2.392588 | 570 | 552 | 0.000484 | 0.000331 | -0.133555 | -0.685617 | -0.48507 | 30 | 2.766 | 0.789 | 0 | -46.24 | 45 | Uncertain significance | Uncertain significance | 0 | 0 | 0 | -1.891757 | -2.457508 | -2.174632 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,516 | ENSG00000012048 | 2,724 | 2,724 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -2.262144 |
17 | 43,045,749 | T | A | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.023698 | BRCA1 | 17 | 41,197,766 | T | A | NM_007294.3 | 5521 | A | T | c.5521A>T | 1,841 | S | C | p.S1841C | Missense | -0.023698 | FUNC | 0.000001 | X23 | 1 | 387 | 2,967 | 2,422 | 5,111 | 3,565 | 0.000006 | 0.001037 | 0.00085 | 0.000887 | 0.001169 | 0.001306 | -0.000056 | 0.016011 | -0.167101 | -0.183112 | 0.479316 | 0.148516 | 0.282836 | 0.13432 | -0.160561 | 0.113166 | 1,172 | 1,602 | 0.000995 | 0.00096 | 0.113061 | -0.677525 | -0.341612 | 29.2 | 2.232 | 0.979 | 0 | -111.67 | 65 | absent | absent | 0 | 0 | 0 | 0.26836 | 0.129408 | 0.198884 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,517 | ENSG00000012048 | 2,723 | 2,723 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.023698 |
17 | 43,045,749 | T | G | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.722098 | BRCA1 | 17 | 41,197,766 | T | G | NM_007294.3 | 5521 | A | C | c.5521A>C | 1,841 | S | R | p.S1841R | Missense | -1.722098 | LOF | 0.99999 | X23 | 1 | 470 | 2,330 | 1,035 | 2,633 | 785 | 0.000006 | 0.00126 | 0.000668 | 0.000379 | 0.000602 | 0.000288 | -0.629058 | 0.016011 | -1.673996 | -1.690007 | -0.757909 | 0.148516 | -2.180629 | -2.329145 | -1.481876 | -1.96232 | 379 | 1,221 | 0.000322 | 0.000732 | -1.166966 | -0.112438 | -0.572726 | 31 | 2.232 | 0.983 | 0 | -109.21 | 65 | Conflicting interpretations of pathogenicity | Conflicting interpretations of pathogenicity | 0 | 0 | 0 | -3.422373 | -1.617918 | -2.520146 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,517 | ENSG00000012048 | 2,723 | 2,723 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.722098 |
17 | 43,045,750 | G | C | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.369464 | BRCA1 | 17 | 41,197,767 | G | C | NM_007294.3 | 5520 | C | G | c.5520C>G | 1,840 | D | E | p.D1840E | Missense | -1.369464 | LOF | 0.995054 | X23 | 2 | 553 | 4,303 | 2,013 | 5,405 | 969 | 0.000012 | 0.001482 | 0.001233 | 0.000738 | 0.001237 | 0.000355 | 0.021336 | 0.018214 | -0.948899 | -0.967112 | 0.045059 | 0.132954 | -2.111443 | -2.244398 | -0.848009 | -1.89092 | 2,093 | 1,581 | 0.001778 | 0.000948 | 0.413323 | -0.777251 | -0.193078 | 29.9 | 2.766 | 0.99 | 0 | -44.6 | 35 | absent | absent | 0 | 0 | 0 | -1.749628 | -0.893523 | -1.321575 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,518 | ENSG00000012048 | 2,722 | 2,722 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.369464 |
17 | 43,045,751 | T | A | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.793784 | BRCA1 | 17 | 41,197,768 | T | A | NM_007294.3 | 5519 | A | T | c.5519A>T | 1,840 | D | V | p.D1840V | Missense | -1.793784 | LOF | 0.999997 | X23 | 2 | 452 | 2,913 | 729 | 2,855 | 911 | 0.000012 | 0.001212 | 0.000835 | 0.000267 | 0.000653 | 0.000334 | -0.250544 | 0.028887 | -2.123299 | -2.152185 | -0.584788 | 0.10877 | -1.909532 | -2.018302 | -1.887135 | -1.700434 | 611 | 472 | 0.000519 | 0.000283 | -0.800168 | -1.600425 | -1.258821 | 29.8 | 2.232 | 1 | 0 | -152.01 | 65 | absent | absent | 0 | 0 | 0 | -1.00711 | -1.432793 | -1.219951 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,519 | ENSG00000012048 | 2,721 | 2,721 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.793784 |
17 | 43,045,751 | T | C | true | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -1.364247 | BRCA1 | 17 | 41,197,768 | T | C | NM_007294.3 | 5519 | A | G | c.5519A>G | 1,840 | D | G | p.D1840G | Missense | -1.364247 | LOF | 0.994596 | X23 | 2 | 461 | 5,255 | 1,365 | 3,873 | 1,001 | 0.000012 | 0.001236 | 0.001506 | 0.0005 | 0.000886 | 0.000367 | 0.572197 | 0.028887 | -1.246832 | -1.275719 | -0.173271 | 0.10877 | -1.802057 | -1.910827 | -1.118609 | -1.609885 | 632 | 938 | 0.000537 | 0.000562 | -1.6026 | -1.049585 | -1.348844 | 28.6 | 2.232 | 0.999 | 0 | -93.77 | 65 | absent | absent | 0 | 0 | 0 | -2.181171 | -1.861697 | -2.021434 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,519 | ENSG00000012048 | 2,721 | 2,721 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | abnormal | abnormal | ExCALIBR calibration | STRONG | 1 | -1.364247 |
17 | 43,045,751 | T | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.040887 | BRCA1 | 17 | 41,197,768 | T | G | NM_007294.3 | 5519 | A | C | c.5519A>C | 1,840 | D | A | p.D1840A | Missense | 0.040887 | FUNC | 0 | X23 | 5 | 466 | 3,548 | 3,190 | 4,849 | 4,270 | 0.000029 | 0.001249 | 0.001017 | 0.001169 | 0.001109 | 0.001564 | -0.010051 | 0.028887 | -0.03774 | -0.066627 | 0.135401 | 0.10877 | 0.275174 | 0.166403 | -0.058421 | 0.140196 | 1,872 | 2,830 | 0.00159 | 0.001697 | 0.530668 | 0.219321 | 0.293154 | 29 | 2.232 | 0.999 | 0 | -125.75 | 65 | absent | absent | 0 | 0 | 0 | -0.180591 | 0.30308 | 0.061245 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,519 | ENSG00000012048 | 2,721 | 2,721 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.040887 |
17 | 43,045,752 | C | G | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | -0.465914 | BRCA1 | 17 | 41,197,769 | C | G | NM_007294.3 | 5518 | G | C | c.5518G>C | 1,840 | D | H | p.D1840H | Missense | -0.465914 | FUNC | 0.000178 | X23 | 3 | 390 | 3,292 | 1,984 | 5,306 | 2,127 | 0.000018 | 0.001045 | 0.000943 | 0.000727 | 0.001214 | 0.000779 | 0.138763 | 0.045092 | -0.466029 | -0.511121 | 0.522195 | 0.100678 | -0.473386 | -0.574065 | -0.448174 | -0.483653 | 1,388 | 2,277 | 0.001179 | 0.001365 | 0.207137 | -0.224284 | -0.088494 | 31 | 2.766 | 1 | 0 | -81.24 | 65 | absent | absent | 0 | 0 | 0 | 0.1332 | -1.213742 | -0.540271 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,520 | ENSG00000012048 | 2,720 | 2,720 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | -0.465914 |
17 | 43,045,752 | C | T | false | missense_variant | BRCA1 | sge | urn:mavedb:00000097-0-2 | 0.116605 | BRCA1 | 17 | 41,197,769 | C | T | NM_007294.3 | 5518 | G | A | c.5518G>A | 1,840 | D | N | p.D1840N | Missense | 0.116605 | FUNC | 0 | X23 | 2 | 572 | 3,981 | 4,622 | 4,855 | 5,026 | 0.000012 | 0.001533 | 0.001141 | 0.001694 | 0.001111 | 0.001841 | -0.139611 | 0.045092 | 0.201536 | 0.156443 | -0.1585 | 0.100678 | 0.214663 | 0.113985 | 0.137177 | 0.096033 | 2,543 | 1,840 | 0.00216 | 0.001103 | 0.806494 | -0.403559 | 0.193362 | 34 | 2.766 | 0.999 | 0 | -23.01 | 15 | absent | absent | 0 | 0 | 0 | 0.52059 | 0.049505 | 0.285048 | missense_variant | missense_variant | ENSG00000012048 | 0 | ENSG00000012048 | 0 | 0 | ENSG00000012048 | missense_variant | ENSG00000108830 | 20,520 | ENSG00000012048 | 2,720 | 2,720 | ENSG00000012048 | missense_variant | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | null | Cell fitness | Chemical-based transfection | Nuclease | SpCas9 | Single-dimensional data | Loss of function | Immortalized human cells | Direct sequencing | Single-segment (short read) | Endogenous locus library method | Molecular function | normal | normal | ExCALIBR calibration | STRONG | 1 | 0.116605 |
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