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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val CA5B 0 genome.wustl.edu 37 X 15790686 15790686 + Missense_Mutation SNP C C G TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 X 15790686 15790686 C G SNP CA5B ENST00000318636 human ensembl 74_37 1 known missense c.408 p.I136M 0.02 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a 0 no_errors 0 0 0 30 0 0 5 15 75 117 0 0.00 22 96 81.36 MTMR8 0 genome.wustl.edu 37 X 63488809 63488809 + Missense_Mutation SNP T T G TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 X 63488809 63488809 T G SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known missense c.1723 p.I575L 0.229 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat 0 no_errors 0 0 0 26 0 0 1 8 88.89 103 0 0.00 27 21 43.75 VWA5B1 0 genome.wustl.edu 37 1 20640980 20640980 + Missense_Mutation SNP C C T TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 1 20640980 20640980 C T SNP VWA5B1 ENST00000289815 human ensembl 74_37 1 known missense c.458 p.T153M 0.993 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 0 no_errors rs374632705 C->T 0 63 0 0 27 17 38.64 126 0 0.00 75 45 37.50 CLASP1 0 genome.wustl.edu 37 2 122165068 122165068 + Missense_Mutation SNP A A G TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 2 122165068 122165068 A G SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.2648 p.L883P 1 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 0 no_errors 0 0 0 57 0 0 37 21 36.21 165 0 0.00 165 96 36.78 NR1I2 0 genome.wustl.edu 37 3 119534625 119534625 + Silent SNP C C T TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 3 119534625 119534625 C T SNP NR1I2 ENST00000337940 human ensembl 74_37 1 known silent c.1224 p.F408 0 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt 0 no_errors rs369188703 C->T 0 39 0 0 16 8 33.33 119 0 0.00 80 55 40.44 PEX5L 0 genome.wustl.edu 37 3 179519473 179519473 + RNA SNP A A C TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 3 179519473 179519473 A C SNP PEX5L ENST00000467440 human ensembl 74_37 -1 known rna NULL NULL 0.002 0 0 0 no_errors 0 0 0 81 0 0 53 37 41.11 183 0 0.00 145 85 36.96 ADAM29 0 genome.wustl.edu 37 4 175897904 175897904 + Nonsense_Mutation SNP G G T TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 4 175897904 175897904 G T SNP ADAM29 ENST00000359240 human ensembl 74_37 1 known nonsense c.1228 p.E410* 0.053 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin 0 no_errors 0 0 0 40 1 2.38 23 29 55.77 134 0 0.00 122 99 44.80 MCC 0 genome.wustl.edu 37 5 112384918 112384918 + Missense_Mutation SNP G G A TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 5 112384918 112384918 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1957 p.R653W 1 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm 0 no_errors rs139015770 G->A 0 43 0 0 25 6 19.35 88 0 0.00 86 4 4.44 SCAF8 0 genome.wustl.edu 37 6 155153402 155153402 + Missense_Mutation SNP C C G TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 6 155153402 155153402 C G SNP SCAF8 ENST00000367186 human ensembl 74_37 1 known missense c.2887 p.L963V 0.996 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom 0 no_errors 0 0 0 49 0 0 27 23 46 184 0 0.00 157 130 45.14 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 346 0 0 206 136 39.65 62 0 0.00 69 55 44.35 SEC61A2 0 genome.wustl.edu 37 10 12211342 12211342 + RNA SNP G G A TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 10 12211342 12211342 G A SNP SEC61A2 ENST00000495368 human ensembl 74_37 1 known rna NULL NULL 0 0 0 0 no_errors rs376483075 G->A 0 38 0 0 26 11 29.73 229 0 0.00 182 128 41.29 OR5M9 0 genome.wustl.edu 37 11 56230566 56230566 + Silent SNP G G A TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 11 56230566 56230566 G A SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known silent c.312 p.A104 0 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn 0 no_errors 0 0 0 21 0 0 10 8 44.44 153 0 0.00 102 76 42.46 CTSC 0 genome.wustl.edu 37 11 88027335 88027335 + Missense_Mutation SNP C C T TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 11 88027335 88027335 C T SNP CTSC ENST00000227266 human ensembl 74_37 -1 known missense c.1231 p.G411S 1 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C 0 no_errors 0 0 0 42 0 0 22 17 43.59 110 0 0.00 86 43 33.33 COL4A1 0 genome.wustl.edu 37 13 110822103 110822103 + Missense_Mutation SNP G G A TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 13 110822103 110822103 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.3749 p.P1250L 1 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC 0 no_errors 0 0 0 72 0 0 61 9 12.86 167 0 0.00 170 14 7.57 GYS1 0 genome.wustl.edu 37 19 49477938 49477938 + Missense_Mutation SNP T T C TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 19 49477938 49477938 T C SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known missense c.1361 p.D454G 1 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom 0 no_errors 0 0 0 54 0 0 38 10 20.83 81 0 0.00 62 27 30.34 PLXNB2 0 genome.wustl.edu 37 22 50721178 50721178 + Silent SNP G G C TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 22 50721178 50721178 G C SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.2949 p.P983 0 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom 0 no_errors 0 0 0 169 0 0 78 47 37.6 117 0 0.00 75 46 38.02 MTMR8 0 genome.wustl.edu 37 X 63488791 63488806 + Frame_Shift_Del DEL TATTCAGGTCTCCATT TATTCAGGTCTCCATT - TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 TATTCAGGTCTCCATT TATTCAGGTCTCCATT TATTCAGGTCTCCATT - TATTCAGGTCTCCATT TATTCAGGTCTCCATT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 X 63488791 63488806 TATTCAGGTCTCCATT 0 DEL MTMR8 ENST00000374852 human ensembl 74_37 -1 known frame_shift_del c.1741_1726 p.N576fs 0.954:0.927:0.899:0.866:0.739:0.694:0.647:0.629:0.633:0.635:0.631:0.598:0.416:0.136:0.046:0.015 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat 0 no_errors 0 0 0 31 0 0 1 4 80 96 0 0.00 27 15 35.71 HMX3 0 genome.wustl.edu 37 10 124895626 124895627 + Frame_Shift_Ins INS - - C TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 10 124895626 124895627 0 C INS HMX3 ENST00000357878 human ensembl 74_37 1 known frame_shift_ins c.60_61 p.P23fs 0.958:0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa 0 no_errors 0 0 0 17 0 0 6 5 45.45 27 0 0.00 42 7 14.29 WASH6P 0 genome.wustl.edu 37 X 155252253 155252253 + RNA SNP C C T TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 X 155252253 155252253 C T SNP WASH6P ENST00000340131 human ensembl 74_37 1 known rna NULL NULL 0.77 0 0 0 no_errors 0 0 0 54 1 1.82 43 8 15.69 0 0 0.00 0 0 0.00 ENSG00000230615 0 genome.wustl.edu 37 1 44569970 44569970 + RNA SNP A A C TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 1 44569970 44569970 A C SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 19 0 0 22 6 21.43 0 0 0.00 0 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102304649 102304649 + RNA SNP G G T TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 15 102304649 102304649 G T SNP DNM1P47 ENST00000561463 human ensembl 74_37 1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 10 0 0 10 3 23.08 0 0 0.00 0 0 0.00 FAM230A 0 genome.wustl.edu 37 22 20710913 20710913 + Missense_Mutation SNP G G A TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 22 20710913 20710913 G A SNP FAM230A ENST00000434783 human ensembl 74_37 1 known missense c.2645 p.R882K 0.158 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom 0 no_errors rs62218188 G->A 0 53 1 1.85 62 8 11.43 0 0 0.00 3 0 0.00 CTAG2 0 genome.wustl.edu 37 X 153881625 153881625 + Frame_Shift_Del DEL C C - TCGA-XM-AAZ2-01A-11D-A423-09 TCGA-XM-AAZ2-12A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c2d3ad3-94dd-44c5-8194-db4fd3d95d92 ddc16e80-95c0-4d7c-b180-cd34e2927be4 X 153881625 153881625 C 0 DEL CTAG2 ENST00000369585 human ensembl 74_37 -1 known frame_shift_del c.165 p.P56fs 0 NULL pfam_EKC/KEOPS_Pcc1 0 no_errors 0 0 0 9 0 0 4 2 33.33 0 0 0.00 2 0 0.00