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 MFRP 0 genome.wustl.edu 37 11 119216560 119216560 + Missense_Mutation SNP G G T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 11 119216560 119216560 G T SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.350 p.P117H 0.000 NULL pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 tier1 - - 28 0 0.00 25 32 56.14 33 0 0.00 11 3 21.43 PPARA 0 genome.wustl.edu 37 22 46594478 46594478 + Silent SNP G G C TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 22 46594478 46594478 G C SNP PPARA ENST00000262735 human ensembl 74_37 +1 known silent c.198 p.S66 0.032 prints_1Cnucl_rcpt_A pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 tier1 - - 51 0 0.00 23 10 30.30 92 0 0.00 58 13 18.31 COL5A3 0 genome.wustl.edu 37 19 10091766 10091766 + Missense_Mutation SNP G G C TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 19 10091766 10091766 G C SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.2503 p.P835A 0.997 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 36 0 0.00 26 5 16.13 63 0 0.00 51 11 17.74 TRPV4 0 genome.wustl.edu 37 12 110224582 110224582 + Missense_Mutation SNP G G A TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 12 110224582 110224582 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.2269 p.R757C 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 tier1 - - 58 0 0.00 49 13 20.63 26 0 0.00 18 2 10.00 SATB2 0 genome.wustl.edu 37 2 200213845 200213845 + Missense_Mutation SNP C C T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 2 200213845 200213845 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.752 p.R251H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 116 0 0.00 94 21 18.26 96 0 0.00 60 26 30.23 AP2A1 0 genome.wustl.edu 37 19 50303239 50303239 + Silent SNP C C T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 19 50303239 50303239 C T SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known silent c.1287 p.A429 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 tier1 - - 40 0 0.00 42 6 12.50 77 0 0.00 36 6 14.29 KLHL6 0 genome.wustl.edu 37 3 183211912 183211912 + Silent SNP G G A TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 3 183211912 183211912 G A SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.1305 p.I435 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 tier1 - - 51 0 0.00 32 13 28.89 76 0 0.00 92 30 24.59 RBMXL3 0 genome.wustl.edu 37 X 114425571 114425571 + Missense_Mutation SNP G G A TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde X 114425571 114425571 G A SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.1567 p.G523R 0.935 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 98 0 0.00 81 28 25.69 53 0 0.00 30 10 25.00 SREBF1 0 genome.wustl.edu 37 17 17722392 17722392 + Missense_Mutation SNP A A G TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 17 17722392 17722392 A G SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1093 p.Y365H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 tier1 - - 58 0 0.00 52 15 22.39 33 0 0.00 32 11 25.58 B4GALNT1 0 genome.wustl.edu 37 12 58022646 58022646 + Missense_Mutation SNP C C A TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 12 58022646 58022646 C A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.852 p.K284N 1.000 pfam_Glyco_trans_2,pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 80 0 0.00 658 60 8.34 106 0 0.00 637 90 12.38 ZNF479 0 genome.wustl.edu 37 7 57188683 57188683 + Missense_Mutation SNP G G T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 7 57188683 57188683 G T SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.439 p.Q147K 0.046 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 tier1 - - 119 0 0.00 83 32 27.83 56 0 0.00 50 10 16.67 CEPT1 0 genome.wustl.edu 37 1 111703576 111703576 + R DEL A A - TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 1 111703576 111703576 A - DEL CEPT1 ENST00000480324 human ensembl 74_37 +1 known rna NULL NULL 0.207 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 21 0 0.00 11 3 21.43 24 0 0.00 22 3 12.00 PDLIM5 0 genome.wustl.edu 37 4 95504021 95504022 + R INS - - T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 4 95504021 95504022 - T INS PDLIM5 ENST00000508531 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.018 - - - no_errors PDLIM5 HGNC ENSG00000163110 tier1 32 0 0.00 22 4 15.38 59 0 0.00 44 7 13.73 ZNF880 0 genome.wustl.edu 37 19 52887558 52887558 + Missense_Mutation SNP G G A TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 19 52887558 52887558 G A SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.725 p.C242Y 0.735 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 32 0 0.00 20 4 16.67 18 0 0.00 6 6 50.00 ENSG00000225241 0 genome.wustl.edu 37 1 144598744 144598744 + R SNP C C T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 1 144598744 144598744 C T SNP ENSG00000225241 ENST00000419820 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 - - 42 0 0.00 38 5 11.63 131 0 0.00 104 6 5.41 DNM1P47 0 genome.wustl.edu 37 15 102297549 102297549 + R SNP A A C TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 15 102297549 102297549 A C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.917 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs71260650 - 12 0 0.00 10 11 52.38 0 0 0.00 0 0 0.00 OPN1MW2 0 genome.wustl.edu 37 X 153492789 153492789 + Missense_Mutation SNP G G T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde X 153492789 153492789 G T SNP OPN1MW2 ENST00000369929 human ensembl 74_37 +1 known missense c.538 p.A180S 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW2 HGNC ENSG00000166160 tier1 rs139163406 - 11 0 0.00 3 5 62.50 0 0 0.00 0 0 0.00 PNCK 0 genome.wustl.edu 37 X 152938410 152938411 + R DEL AC AC - TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde X 152938410 152938411 AC - DEL PNCK ENST00000462280 human ensembl 74_37 -1 putative rna NULL NULL 0.001:0.002 - - - no_errors PNCK HGNC ENSG00000130822 tier1 27 0 0.00 40 9 18.37 1 0 0.00 5 0 0.00 TEX13A 0 genome.wustl.edu 37 X 104464405 104464405 + Missense_Mutation SNP C C T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde X 104464405 104464405 C T SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known missense c.473 p.G158E 0.000 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 tier1 - - 27 0 0.00 17 13 43.33 2 0 0.00 2 0 0.00 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + R DEL CC CC - TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde 15 102506815 102506816 CC - DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 11 0 0.00 5 4 44.44 0 0 0.00 0 0 0.00 RAB9B 0 genome.wustl.edu 37 X 103080614 103080614 + Missense_Mutation SNP G G T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68873db8-897d-45d3-a524-3d64be5cdce2 c71940dd-4a6d-4498-bc17-02901daf8fde X 103080614 103080614 G T SNP RAB9B ENST00000243298 human ensembl 74_37 -1 known missense c.101 p.S34Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9B HGNC ENSG00000123570 tier1 - - 36 0 0.00 37 4 9.76 121 0 0.00 111 2 1.77