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 HRNR 0 genome.wustl.edu 37 1 152186899 152186899 + Missense_Mutation SNP C C G TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 1 152186899 152186899 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7206 p.Q2402H 0.868 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 110 0 0.00 106 31 22.63 22 0 0.00 29 5 14.71 HRNR 0 genome.wustl.edu 37 1 152187081 152187081 + Missense_Mutation SNP C C G TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 1 152187081 152187081 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7024 p.G2342R 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 355 0 0.00 411 109 20.96 113 0 0.00 121 21 14.79 HRNR 0 genome.wustl.edu 37 1 152187037 152187037 + Silent SNP C C T TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 1 152187037 152187037 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.7068 p.Q2356 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 416 0 0.00 471 135 22.24 102 0 0.00 121 22 15.38 LRIG3 0 genome.wustl.edu 37 12 59281683 59281683 + Missense_Mutation SNP C C G TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 12 59281683 59281683 C G SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.979 p.D327H 1.000 smart_Leu-rich_rpt_typical-subtyp 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_dom - no_errors LRIG3 HGNC ENSG00000139263 tier1 - - 40 0 0.00 111 10 8.26 70 0 0.00 132 15 10.20 PKD2 0 genome.wustl.edu 37 4 88929174 88929176 + In_Frame_Del DEL GAG GAG - TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 GAG GAG GAG - GAG GAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 4 88929174 88929176 GAG - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known in_frame_del c.289_291 p.E100in_frame_del 1.000:1.000:1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 32 0 0.00 42 5 10.64 30 0 0.00 12 2 14.29 QDPR 0 genome.wustl.edu 37 4 17510934 17510934 + Missense_Mutation SNP A A G TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 4 17510934 17510934 A G SNP QDPR ENST00000281243 human ensembl 74_37 -1 known missense c.158 p.I53T 0.022 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 tier1 - - 56 0 0.00 66 7 9.59 75 0 0.00 78 7 8.24 ZNF251 0 genome.wustl.edu 37 8 145948119 145948119 + Missense_Mutation SNP A A G TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 8 145948119 145948119 A G SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.926 p.I309T 0.000 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 ZNF251 HGNC ENSG00000198169 tier1 - - 59 0 0.00 45 6 11.76 150 0 0.00 117 6 4.88 PCLO 0 genome.wustl.edu 37 7 82581481 82581481 + Missense_Mutation SNP C C T TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 7 82581481 82581481 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8788 p.V2930I 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 87 0 0.00 79 7 8.14 99 0 0.00 72 6 7.69 LAMB1 0 genome.wustl.edu 37 7 107577718 107577718 + Silent SNP G G A TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 7 107577718 107577718 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.3766 p.L1256 1.000 superfamily_t-SRE pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SRE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 60 0 0.00 72 14 16.28 81 0 0.00 107 6 5.31 BTN2A3P 0 genome.wustl.edu 37 6 26422387 26422388 + R INS - - CTTCCTCCTCCT TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 6 26422387 26422388 - CTTCCTCCTCCT INS BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.002 - - - no_errors BTN2A3P HGNC ENSG00000124549 tier1 14 0 0.00 8 0 0.00 14 0 0.00 8 0 0.00 TCHH 0 genome.wustl.edu 37 1 152084230 152084235 + In_Frame_Del DEL CAACGT CAACGT - TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 CAACGT CAACGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 1 152084230 152084235 CAACGT - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known in_frame_del c.1463_1458 p.RW487in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 7 0 0.00 3 0 0.00 7 0 0.00 3 0 0.00 TRIO 0 genome.wustl.edu 37 5 14487871 14487871 + Silent SNP C C T TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 5 14487871 14487871 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.7134 p.P2378 0.171 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssD_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 9 0 0.00 8 4 33.33 6 0 0.00 3 0 0.00 ENSG00000173213 0 genome.wustl.edu 37 18 49507 49507 + Silent SNP G G C TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 18 49507 49507 G C SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known silent c.51 p.G17 0.875 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 - - 41 0 0.00 44 5 10.20 0 0 0.00 1 0 0.00 MSH3 0 genome.wustl.edu 37 5 79950700 79950717 + In_Frame_Del DEL GCAGCGGCTGCAGCGGCC GCAGCGGCTGCAGCGGCC - TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 GCAGCGGCTGCAGCGGCC GCAGCGGCTGCAGCGGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 5 79950700 79950717 GCAGCGGCTGCAGCGGCC - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known in_frame_del c.154_171 p.AAAAAA55in_frame_del 0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 OR2AG1 0 genome.wustl.edu 37 11 6806992 6806992 + Missense_Mutation SNP T T C TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 11 6806992 6806992 T C SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known missense c.724 p.S242P 0.963 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AG1 HGNC ENSG00000170803 tier1 - - 82 0 0.00 70 8 10.26 111 0 0.00 63 2 3.08 ADAMTSL4 0 genome.wustl.edu 37 1 150524368 150524368 + R DEL A A - TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1fcf2d5-ca57-48a0-9a53-25a98af18d44 204c8358-19d2-4a10-9df1-fa03c655b6c9 1 150524368 150524368 A - DEL ADAMTSL4 ENST00000483335 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 16 0 0.00 63 7 10.00 18 0 0.00 44 2 4.35