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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val KIAA1549 0 genome.wustl.edu 37 7 138596018 138596018 + Missense_Mutation SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 7 138596018 138596018 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.3019 p.V1007I 0.688 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 57 0 0.00 14 24 63.16 83 0 0.00 35 59 62.77 MYH16 0 genome.wustl.edu 37 7 98862800 98862800 + R SNP T T C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 7 98862800 98862800 T C SNP MYH16 ENST00000425880 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MYH16 HGNC ENSG00000002079 tier1 - - 187 0 0.00 47 70 59.83 101 1 0.98 37 45 54.88 TIAL1 0 genome.wustl.edu 37 10 121337184 121337184 + Silent SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 10 121337184 121337184 C T SNP TIAL1 ENST00000369093 human ensembl 74_37 -1 known silent c.672 p.V224 0.999 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 tier1 - - 35 0 0.00 21 5 19.23 144 0 0.00 66 28 29.79 PNPLA3 0 genome.wustl.edu 37 22 44333049 44333049 + Silent SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 22 44333049 44333049 G A SNP PNPLA3 ENST00000216180 human ensembl 74_37 +1 known silent c.876 p.L292 0.001 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 tier1 rs149395579 - 81 0 0.00 27 32 54.24 61 0 0.00 17 18 51.43 CD81 0 genome.wustl.edu 37 11 2407360 2407360 + Silent SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 11 2407360 2407360 G A SNP CD81 ENST00000381036 human ensembl 74_37 +1 putative silent c.69 p.L23 0.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 tier1 - - 93 0 0.00 55 31 36.05 64 0 0.00 39 22 36.07 GRM6 0 genome.wustl.edu 37 5 178413152 178413152 + Silent SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 5 178413152 178413152 G T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.2103 p.T701 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 - - 60 0 0.00 35 58 62.37 33 0 0.00 19 26 57.78 PSTPIP2 0 genome.wustl.edu 37 18 43573597 43573597 + Missense_Mutation SNP A A G TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 18 43573597 43573597 A G SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known missense c.715 p.S239P 1.000 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 tier1 - - 38 0 0.00 11 8 42.11 63 0 0.00 74 19 20.43 ENSG00000267045 0 genome.wustl.edu 37 19 45742155 45742155 + R SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 19 45742155 45742155 G A SNP ENSG00000267045 ENST00000590022 human ensembl 74_37 -1 known rna NULL NULL 0.542 - - - no_errors AC006126.4 Clone_based_vega_gene ENSG00000267045 tier1 - - 63 0 0.00 28 9 24.32 42 0 0.00 17 8 32.00 UNC79 0 genome.wustl.edu 37 14 94004450 94004450 + Missense_Mutation SNP G G C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 14 94004450 94004450 G C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1238 p.S413T 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 27 0 0.00 15 11 42.31 69 0 0.00 33 23 41.07 CREM 0 genome.wustl.edu 37 10 35416094 35416094 + R SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 10 35416094 35416094 G T SNP CREM ENST00000461968 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors CREM HGNC ENSG00000095794 tier1 - - 178 0 0.00 101 28 21.71 41 0 0.00 44 17 27.87 AP3B2 0 genome.wustl.edu 37 15 83357916 83357916 + Missense_Mutation SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 15 83357916 83357916 G T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.258 p.N86K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 - - 50 0 0.00 20 6 23.08 86 1 1.14 55 24 30.00 SHC4 0 genome.wustl.edu 37 15 49176558 49176558 + Missense_Mutation SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 15 49176558 49176558 C T SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.727 p.V243I 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 - - 41 0 0.00 34 11 24.44 72 0 0.00 49 14 22.22 CAPN8 0 genome.wustl.edu 37 1 223805977 223805977 + Missense_Mutation SNP G G C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 1 223805977 223805977 G C SNP CAPN8 ENST00000366873 human ensembl 74_37 -1 novel missense c.1142 p.S381C 1.000 prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 55 0 0.00 92 11 10.68 50 0 0.00 93 21 18.42 RGS17 0 genome.wustl.edu 37 6 153365122 153365122 + Missense_Mutation SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 6 153365122 153365122 C T SNP RGS17 ENST00000206262 human ensembl 74_37 -1 known missense c.32 p.G11E 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS17 HGNC ENSG00000091844 tier1 - - 64 0 0.00 53 10 15.87 58 0 0.00 48 11 18.64 DPH1 0 genome.wustl.edu 37 17 1939349 1939349 + Missense_Mutation SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 17 1939349 1939349 G T SNP DPH1 ENST00000263083 human ensembl 74_37 +1 known missense c.379 p.A127S 0.998 pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 tier1 - - 102 0 0.00 56 41 41.84 37 0 0.00 36 30 45.45 PAPD5 0 genome.wustl.edu 37 16 50264686 50264686 + R SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 16 50264686 50264686 G A SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 66 0 0.00 47 13 21.67 80 0 0.00 53 14 20.90 PLEKHA7 0 genome.wustl.edu 37 11 16805332 16805332 + Missense_Mutation SNP C C G TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 11 16805332 16805332 C G SNP PLEKHA7 ENST00000531066 human ensembl 74_37 -1 putative missense c.3565 p.D1189H 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 - - 110 0 0.00 38 19 33.33 34 0 0.00 26 8 23.53 KIT 0 genome.wustl.edu 37 4 55599285 55599285 + Missense_Mutation SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 4 55599285 55599285 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.2411 p.R804Q 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 98 0 0.00 22 35 61.40 88 0 0.00 25 43 63.24 DJB8-AS1 0 genome.wustl.edu 37 3 128182759 128182759 + R SNP T T G TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 3 128182759 128182759 T G SNP DJB8-AS1 ENST00000471626 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DJB8-AS1 HGNC ENSG00000242049 tier1 - - 41 0 0.00 17 16 48.48 71 0 0.00 30 21 41.18 MCCC1 0 genome.wustl.edu 37 3 182759436 182759436 + Missense_Mutation SNP T T C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 3 182759436 182759436 T C SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known missense c.1186 p.M396V 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 tier1 - - 139 0 0.00 52 45 46.39 77 0 0.00 31 38 55.07 SCN5A 0 genome.wustl.edu 37 3 38601865 38601865 + Missense_Mutation SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 3 38601865 38601865 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4018 p.V1340I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 rs199473605 - 56 0 0.00 34 10 22.73 39 0 0.00 17 6 26.09 TMCC2 0 genome.wustl.edu 37 1 205225428 205225428 + R SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 1 205225428 205225428 G T SNP TMCC2 ENST00000468846 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMCC2 HGNC ENSG00000133069 tier1 - - 33 0 0.00 46 8 14.81 23 0 0.00 27 4 12.90 CAMTA1 0 genome.wustl.edu 37 1 6885151 6885151 + Splice_Site SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 1 6885151 6885151 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known splice_site c.116-1 e3-1 1.000 - - - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 44 0 0.00 18 25 58.14 58 0 0.00 34 34 49.28 DSG3 0 genome.wustl.edu 37 18 29040795 29040795 + Splice_Site SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 18 29040795 29040795 G T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known splice_site c.685-1 e7-1 1.000 - - - no_errors DSG3 HGNC ENSG00000134757 tier1 - - 66 0 0.00 39 42 51.85 47 0 0.00 42 35 45.45 CDCA2 0 genome.wustl.edu 37 8 25364178 25364178 + Missense_Mutation SNP T T C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 8 25364178 25364178 T C SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.1996 p.S666P 0.000 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 tier1 - - 53 0 0.00 24 20 45.45 35 0 0.00 30 30 50.00 PAPD5 0 genome.wustl.edu 37 16 50264680 50264680 + R SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 16 50264680 50264680 G A SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 63 0 0.00 48 17 26.15 82 0 0.00 54 15 21.74 OR2F2 0 genome.wustl.edu 37 7 143632973 143632973 + Missense_Mutation SNP G G C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 7 143632973 143632973 G C SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.648 p.L216F 0.019 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 tier1 - - 111 0 0.00 43 21 32.81 40 0 0.00 35 16 31.37 C19orf44 0 genome.wustl.edu 37 19 16620577 16620586 + Frame_Shift_Del DEL GAAAACTCTC GAAAACTCTC - TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 GAAAACTCTC GAAAACTCTC GAAAACTCTC - GAAAACTCTC GAAAACTCTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 19 16620577 16620586 GAAAACTCTC - DEL C19orf44 ENST00000221671 human ensembl 74_37 +1 known frame_shift_del c.1417_1426 p.E473fs 0.852:0.769:0.114:0.003:0.000:0.000:0.003:0.003:0.000:0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 tier1 86 0 0.00 42 13 23.64 86 0 0.00 42 13 23.64 GRAP2 0 genome.wustl.edu 37 22 40364152 40364153 + Frame_Shift_Ins INS - - C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 22 40364152 40364153 - C INS GRAP2 ENST00000344138 human ensembl 74_37 +1 known frame_shift_ins c.566_567 p.T192fs 0.872:0.397 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 tier1 83 0 0.00 46 33 41.77 31 0 0.00 31 26 45.61 ACTA2 0 genome.wustl.edu 37 10 90708478 90708481 + R DEL AGAT AGAT - TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 AGAT AGAT AGAT - AGAT AGAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 10 90708478 90708481 AGAT - DEL ACTA2 ENST00000482085 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors ACTA2 HGNC ENSG00000107796 tier1 59 0 0.00 22 27 55.10 85 0 0.00 25 34 57.63 ATRX 0 genome.wustl.edu 37 X 76939418 76939418 + Nonsense_Mutation SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c X 76939418 76939418 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.1330 p.R444* 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 47 0 0.00 4 47 92.16 46 0 0.00 4 71 94.67 DAGLB 0 genome.wustl.edu 37 7 6487537 6487537 + R SNP G G C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 7 6487537 6487537 G C SNP DAGLB ENST00000479922 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DAGLB HGNC ENSG00000164535 tier1 - - 33 0 0.00 4 16 80.00 16 0 0.00 6 16 72.73 ENSG00000223063 0 genome.wustl.edu 37 6 35668845 35668845 + R SNP A A G TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 6 35668845 35668845 A G SNP ENSG00000223063 ENST00000411131 human ensembl 74_37 -1 novel rna NULL NULL 0.066 - - - no_errors AL157823.1 Clone_based_ensembl_gene ENSG00000223063 tier1 - - 108 0 0.00 69 55 44.35 10 0 0.00 7 3 30.00 LAMA1 0 genome.wustl.edu 37 18 7026019 7026019 + Missense_Mutation SNP G G T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 18 7026019 7026019 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.2361 p.D787E 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 48 0 0.00 22 10 31.25 19 0 0.00 8 4 33.33 MTMR14 0 genome.wustl.edu 37 3 9743521 9743521 + Missense_Mutation SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 3 9743521 9743521 C T SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.1817 p.S606L 0.979 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 tier1 - - 91 0 0.00 80 20 19.80 12 0 0.00 8 2 20.00 OSCAR 0 genome.wustl.edu 37 19 54598510 54598510 + Silent SNP G G A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 19 54598510 54598510 G A SNP OSCAR ENST00000356532 human ensembl 74_37 -1 known silent c.780 p.R260 0.000 NULL smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 tier1 - - 97 0 0.00 34 14 29.17 18 0 0.00 7 6 46.15 PANK1 0 genome.wustl.edu 37 10 91398993 91398993 + Missense_Mutation SNP G G C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 10 91398993 91398993 G C SNP PANK1 ENST00000371774 human ensembl 74_37 -1 known missense c.22 p.L8V 0.014 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 tier1 - - 13 0 0.00 4 10 71.43 40 0 0.00 9 11 55.00 PRX 0 genome.wustl.edu 37 19 40913828 40913828 + Frame_Shift_Del DEL C C - TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 19 40913828 40913828 C - DEL PRX ENST00000324001 human ensembl 74_37 -1 known frame_shift_del c.12 p.S5fs 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 49 0 0.00 13 2 13.33 12 0 0.00 5 0 0.00 FAM57A 0 genome.wustl.edu 37 17 636266 636267 + Frame_Shift_Ins INS - - GGGCC TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 17 636266 636267 - GGGCC INS FAM57A ENST00000574327 human ensembl 74_37 +1 known frame_shift_ins c.379_380 p.P131fs 0.000:0.000 NULL NULL - no_errors FAM57A HGNC ENSG00000167695 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + R INS - - G TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 17 0 0.00 7 3 30.00 1 0 0.00 2 0 0.00 KRTAP10-1 0 genome.wustl.edu 37 21 45959750 45959750 + Missense_Mutation SNP C C G TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 21 45959750 45959750 C G SNP KRTAP10-1 ENST00000400375 human ensembl 74_37 -1 known missense c.284 p.C95S 0.996 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 tier1 - - 181 0 0.00 114 43 27.39 0 0 0.00 2 0 0.00 SGSM1 0 genome.wustl.edu 37 22 25251313 25251313 + Silent SNP C C T TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 22 25251313 25251313 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.585 p.P195 0.987 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 tier1 - - 40 0 0.00 19 6 24.00 55 0 0.00 40 3 6.98 PRKCI 0 genome.wustl.edu 37 3 169988342 169988342 + Nonsense_Mutation SNP T T A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a46b055d-5534-4c00-85b6-a15ba4d62613 c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c 3 169988342 169988342 T A SNP PRKCI ENST00000295797 human ensembl 74_37 +1 known nonsense c.584 p.L195* 1.000 pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 tier1 - - 19 0 0.00 11 3 21.43 36 0 0.00 28 3 9.68