Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACVR2A 0 genome.wustl.edu 37 2 148657378 148657378 + Missense_Mutation SNP C C G TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 2 148657378 148657378 C G SNP ACVR2A ENST00000241416 human ensembl 69_37n +1 known missense c.439 p.L147V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 645 0 0.00 447 182 28.93 - - - APOA4 0 genome.wustl.edu 37 11 116692402 116692402 + Silent SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 11 116692402 116692402 G A SNP APOA4 ENST00000357780 human ensembl 69_37n -1 known silent c.372 p.I124 0.114 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 55 0 0.00 13 14 51.85 - - - ARHGAP24 0 genome.wustl.edu 37 4 86898785 86898785 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 4 86898785 86898785 C T SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known missense c.869 p.T290M 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 127 0 0.00 97 42 30.22 - - - CCNJL 0 genome.wustl.edu 37 5 159686723 159686723 + Silent SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 5 159686723 159686723 C T SNP CCNJL ENST00000393977 human ensembl 69_37n -1 known silent c.480 p.T160 0.578 superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 72 0 0.00 77 27 25.47 - - - CDH24 0 genome.wustl.edu 37 14 23523784 23523785 + Frame_Shift_Ins INS - - C TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 14 23523784 23523785 - C INS CDH24 ENST00000267383 human ensembl 69_37n -1 known frame_shift_ins c.715_714 p.L238fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 37 0 0.00 8 4 33.33 - - - CDK12 0 genome.wustl.edu 37 17 37618384 37618385 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 17 37618384 37618385 TT - DEL CDK12 ENST00000447079 human ensembl 69_37n +1 known frame_shift_del c.60_61 p.L21fs 0.997:0.974 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 53 0 0.00 20 16 44.44 - - - CDS1 0 genome.wustl.edu 37 4 85540676 85540676 + Silent SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 4 85540676 85540676 C T SNP CDS1 ENST00000295887 human ensembl 69_37n +1 known silent c.570 p.L190 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 145 0 0.00 111 55 33.13 - - - CHEK2 0 genome.wustl.edu 37 22 29092948 29092948 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 22 29092948 29092948 G A SNP CHEK2 ENST00000382580 human ensembl 69_37n -1 known missense c.1165 p.R389C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK2 HGNC ENSG00000183765 46 0 0.00 22 27 55.10 - - - CLCNKB 0 genome.wustl.edu 37 1 16376146 16376146 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 1 16376146 16376146 G A SNP CLCNKB ENST00000375679 human ensembl 69_37n +1 known missense c.815 p.R272Q 0.024 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 65 0 0.00 33 12 26.67 - - - EFCAB5 0 genome.wustl.edu 37 17 28381157 28381157 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 17 28381157 28381157 C T SNP EFCAB5 ENST00000394835 human ensembl 69_37n +1 known missense c.2185 p.H729Y 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 62 0 0.00 63 15 19.23 - - - FBXO18 0 genome.wustl.edu 37 10 5963220 5963220 + Splice_Site SNP G G T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 10 5963220 5963220 G T SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known splice_site c.2254-1 e15-1 1.000 - - - no_errors FBXO18 HGNC ENSG00000134452 105 0 0.00 48 30 38.46 - - - FEM1B 0 genome.wustl.edu 37 15 68582349 68582349 + Missense_Mutation SNP A A T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 15 68582349 68582349 A T SNP FEM1B ENST00000306917 human ensembl 69_37n +1 known missense c.653 p.H218L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors FEM1B HGNC ENSG00000169018 181 0 0.00 113 46 28.75 - - - IFNA14 0 genome.wustl.edu 37 9 21239924 21239924 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 9 21239924 21239924 G A SNP IFNA14 ENST00000380222 human ensembl 69_37n -1 known missense c.11 p.P4L 0.000 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA14 HGNC ENSG00000228083 182 0 0.00 116 56 32.56 - - - L3MBTL1 0 genome.wustl.edu 37 20 42169439 42169439 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 20 42169439 42169439 G A SNP L3MBTL1 ENST00000418998 human ensembl 69_37n +1 known missense c.2312 p.R771H 0.988 superfamily_SAM/pointed pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 61 0 0.00 54 14 20.59 - - - LDB2 0 genome.wustl.edu 37 4 16504398 16504398 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 4 16504398 16504398 C T SNP LDB2 ENST00000507464 human ensembl 69_37n -1 novel missense c.752 p.R251Q 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LDB2 HGNC ENSG00000169744 240 0 0.00 200 44 17.96 - - - LEPR 0 genome.wustl.edu 37 1 66083718 66083718 + Frame_Shift_Del DEL C C - TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 1 66083718 66083718 C - DEL LEPR ENST00000349533 human ensembl 69_37n +1 known frame_shift_del c.2284 p.S763fs 0.367 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 196 0 0.00 146 42 21.88 - - - LRBA 0 genome.wustl.edu 37 4 151412073 151412073 + Nonsense_Mutation SNP T T A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 4 151412073 151412073 T A SNP LRBA ENST00000357115 human ensembl 69_37n -1 known nonsense c.6478 p.R2160* 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 140 0 0.00 105 51 32.69 - - - LRIG3 0 genome.wustl.edu 37 12 59271349 59271349 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 12 59271349 59271349 C T SNP LRIG3 ENST00000320743 human ensembl 69_37n -1 known missense c.2369 p.C790Y 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 94 0 0.00 67 14 17.28 - - - LRRC30 0 genome.wustl.edu 37 18 7231362 7231362 + Missense_Mutation SNP C C G TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 18 7231362 7231362 C G SNP LRRC30 ENST00000383467 human ensembl 69_37n +1 known missense c.226 p.L76V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 70 0 0.00 255 38 12.97 - - - LRRK1 0 genome.wustl.edu 37 15 101593282 101593283 + Frame_Shift_Ins INS - - T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 15 101593282 101593283 - T INS LRRK1 ENST00000388948 human ensembl 69_37n +1 known frame_shift_ins c.3845_3846 p.V1283fs 0.007:0.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 16 0 0.00 9 13 59.09 - - - METRNL 0 genome.wustl.edu 37 17 81052054 81052054 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 17 81052054 81052054 G A SNP METRNL ENST00000320095 human ensembl 69_37n +1 known missense c.670 p.A224T 0.436 NULL NULL - no_errors METRNL HGNC ENSG00000176845 14 0 0.00 7 5 41.67 - - - MMP13 0 genome.wustl.edu 37 11 102826428 102826428 + Missense_Mutation SNP G G T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 11 102826428 102826428 G T SNP MMP13 ENST00000340273 human ensembl 69_37n -1 novel missense c.7 p.P3T 0.000 pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP13 HGNC ENSG00000137745 127 1 0.78 54 41 42.71 - - - MYCL1 0 genome.wustl.edu 37 1 40363231 40363231 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 1 40363231 40363231 G A SNP MYCL1 ENST00000372816 human ensembl 69_37n -1 known missense c.908 p.A303V 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc - no_errors MYCL1 HGNC ENSG00000116990 112 0 0.00 50 22 30.56 - - - NR3C2 0 genome.wustl.edu 37 4 149357669 149357669 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 4 149357669 149357669 G A SNP NR3C2 ENST00000355292 human ensembl 69_37n -1 known missense c.344 p.A115V 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 296 0 0.00 207 80 27.87 - - - NUPL1 0 genome.wustl.edu 37 13 25905699 25905699 + Silent SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 13 25905699 25905699 C T SNP NUPL1 ENST00000463407 human ensembl 69_37n +1 known silent c.1438 p.L480 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 66 0 0.00 29 22 43.14 - - - PDE4DIP 0 genome.wustl.edu 37 1 144879284 144879284 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 1 144879284 144879284 G A SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.4166 p.S1389L 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 333 0 0.00 244 55 18.33 - - - PRKCB 0 genome.wustl.edu 37 16 24192242 24192242 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 16 24192242 24192242 C T SNP PRKCB ENST00000303531 human ensembl 69_37n +1 known missense c.1526 p.A509V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCB HGNC ENSG00000166501 93 0 0.00 55 24 30.38 - - - RCC1 0 genome.wustl.edu 37 1 28856409 28856410 + Frame_Shift_Ins INS - - C TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 1 28856409 28856410 - C INS RCC1 ENST00000373831 human ensembl 69_37n +1 known frame_shift_ins c.31_32 p.A14fs 0.985:0.987 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 33 0 0.00 20 3 13.04 - - - SPHKAP 0 genome.wustl.edu 37 2 228996728 228996728 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 2 228996728 228996728 C T SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.106 p.G36S 0.129 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 120 0 0.00 79 23 22.55 - - - ST6GAL2 0 genome.wustl.edu 37 2 107459975 107459975 + Silent SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 2 107459975 107459975 G A SNP ST6GAL2 ENST00000361686 human ensembl 69_37n -1 known silent c.459 p.P153 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 67 0 0.00 22 22 48.89 - - - TAF1L 0 genome.wustl.edu 37 9 32634836 32634836 + Missense_Mutation SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 9 32634836 32634836 C T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.742 p.E248K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 178 0 0.00 118 53 30.81 - - - TRIM73 0 genome.wustl.edu 37 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 7 75028599 75028599 G A SNP TRIM73 ENST00000323819 human ensembl 69_37n +1 known missense c.382 p.V128I 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM73 HGNC ENSG00000178809 11 0 0.00 2 5 71.43 - - - VEZF1 0 genome.wustl.edu 37 17 56060288 56060288 + Missense_Mutation SNP C C G TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 17 56060288 56060288 C G SNP VEZF1 ENST00000581208 human ensembl 69_37n -1 known missense c.500 p.S167T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 84 0 0.00 26 40 60.61 - - - ZNF705E 0 genome.wustl.edu 37 11 71530725 71530725 + RNA SNP C C T TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed5f1077-62c1-43d8-8a27-56521bbdd8a5 209f788f-fd3c-4b14-9e9e-c6d0be240654 11 71530725 71530725 C T SNP ZNF705E ENST00000525199 human ensembl 69_37n -1 known rna NULL NULL 0.942 - - - no_errors ZNF705E HGNC ENSG00000214534 213 0 0.00 266 103 27.84 - - -