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 LRP1B 0 genome.wustl.edu 37 2 141751564 141751564 + Missense_Mutation SNP A A T TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 2 141751564 141751564 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2644 p.F882I 1 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt 0 no_errors 0 0 0 54 0 0 36 18 33.33 264 0 0.00 161 72 30.90 AGAP1 0 genome.wustl.edu 37 2 236617824 236617824 + Missense_Mutation SNP T T A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 2 236617824 236617824 T A SNP AGAP1 ENST00000304032 human ensembl 74_37 1 known missense c.165 p.D55E 1 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase 0 no_errors 0 0 0 110 0 0 84 10 10.64 221 0 0.00 171 8 4.44 CSRNP1 0 genome.wustl.edu 37 3 39186572 39186572 + Missense_Mutation SNP C C G TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 3 39186572 39186572 C G SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known missense c.381 p.E127D 1 NULL prints_Cys/Ser-rich_nuc_prot 0 no_errors 0 0 0 40 0 0 19 16 45.71 43 0 0.00 29 6 17.14 STAG1 0 genome.wustl.edu 37 3 136068118 136068118 + Silent SNP T T C TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 3 136068118 136068118 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known silent c.3153 p.S1051 0.112 NULL pfam_STAG,superfamily_ARM-type_fold 0 no_errors 0 0 0 64 0 0 51 30 37.04 264 1 0.38 191 63 24.71 TAS2R1 0 genome.wustl.edu 37 5 9630072 9630072 + Missense_Mutation SNP C C A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 5 9630072 9630072 C A SNP TAS2R1 ENST00000382492 human ensembl 74_37 -1 known missense c.73 p.G25C 0.883 pfam_TAS2_rcpt pfam_TAS2_rcpt 0 no_errors 0 0 0 49 0 0 43 14 24.56 251 0 0.00 162 53 24.42 RNF180 0 genome.wustl.edu 37 5 63510131 63510131 + Silent SNP T T C TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 5 63510131 63510131 T C SNP RNF180 ENST00000389100 human ensembl 74_37 1 known silent c.978 p.T326 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING 0 no_errors 0 0 0 52 0 0 42 5 10.64 189 0 0.00 202 17 7.76 REV3L 0 genome.wustl.edu 37 6 111710309 111710309 + Missense_Mutation SNP C C T TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 6 111710309 111710309 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.862 p.D288N 1 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B 0 no_errors 0 0 0 61 0 0 52 11 17.46 333 0 0.00 247 101 28.94 L3MBTL3 0 genome.wustl.edu 37 6 130374131 130374131 + Nonsense_Mutation SNP G G T TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 6 130374131 130374131 G T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 1 known nonsense c.577 p.E193* 1 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM 0 no_errors 0 0 0 23 0 0 44 5 10.2 125 0 0.00 106 6 5.36 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 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 0 300 0 0 281 113 28.68 149 0 0.00 75 42 35.59 CSMD1 0 genome.wustl.edu 37 8 2832146 2832146 + Missense_Mutation SNP G G A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 8 2832146 2832146 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8570 p.A2857V 0.142 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP 0 no_errors 0 0 0 51 0 0 39 6 13.33 225 0 0.00 213 17 7.39 PTCH1 0 genome.wustl.edu 37 9 98241284 98241284 + Missense_Mutation SNP C C T TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 9 98241284 98241284 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1213 p.E405K 1 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched 0 no_errors 0 0 0 87 0 0 89 12 11.88 215 0 0.00 155 14 8.28 ZDHHC6 0 genome.wustl.edu 37 10 114204970 114204970 + Silent SNP G G A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 10 114204970 114204970 G A SNP ZDHHC6 ENST00000369405 human ensembl 74_37 -1 known silent c.225 p.A75 1 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase 0 no_errors rs367934020 G->A 0 37 0 0 35 7 16.67 326 1 0.31 198 87 30.53 FRY 0 genome.wustl.edu 37 13 32821485 32821485 + Missense_Mutation SNP A A G TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 13 32821485 32821485 A G SNP FRY ENST00000380250 human ensembl 74_37 1 known missense c.6854 p.N2285S 1 superfamily_ARM-type_fold superfamily_ARM-type_fold 0 no_errors 0 0 0 52 0 0 74 8 9.76 312 0 0.00 230 21 8.37 SLC12A1 0 genome.wustl.edu 37 15 48594991 48594991 + Missense_Mutation SNP A A G TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 15 48594991 48594991 A G SNP SLC12A1 ENST00000380993 human ensembl 74_37 1 known missense c.3209 p.Y1070C 1 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS 0 no_errors 0 0 0 155 0 0 186 15 7.46 291 0 0.00 296 15 4.82 EPG5 0 genome.wustl.edu 37 18 43437954 43437954 + Missense_Mutation SNP C C T TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 18 43437954 43437954 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.7306 p.D2436N 0.998 NULL NULL 0 no_errors 0 0 0 41 0 0 37 6 13.95 111 0 0.00 87 7 7.45 CEACAM5 0 genome.wustl.edu 37 19 42222112 42222112 + Missense_Mutation SNP C C A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 19 42222112 42222112 C A SNP CEACAM5 ENST00000221992 human ensembl 74_37 1 known missense c.1303 p.L435I 0.359 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 0 no_errors 0 0 0 76 0 0 66 7 9.59 50 0 0.00 41 3 6.82 SCP2D1 0 genome.wustl.edu 37 20 18794489 18794489 + Silent SNP G G A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 20 18794489 18794489 G A SNP SCP2D1 ENST00000377428 human ensembl 74_37 1 known silent c.30 p.K10 0.999 NULL pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom 0 no_errors 0 0 0 34 0 0 28 5 15.15 153 0 0.00 131 12 8.39 MKNK1 0 genome.wustl.edu 37 1 47028358 47028358 + Missense_Mutation SNP C C T TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 1 47028358 47028358 C T SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known missense c.926 p.C309Y 1 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom 0 no_errors 0 0 0 36 0 0 63 5 7.35 12 0 0.00 8 0 0.00 GSC 0 genome.wustl.edu 37 14 95236123 95236123 + Missense_Mutation SNP C C A TCGA-X7-A8D8-01A-11D-A423-09 TCGA-X7-A8D8-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1659418d-2e29-4aeb-9e15-f1d2ddc6e778 e03ab0b1-b597-4490-b50c-43d1928ceb64 14 95236123 95236123 C A SNP GSC ENST00000238558 human ensembl 74_37 -1 known missense c.230 p.R77L 1 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 0 no_errors 0 0 0 10 0 0 8 5 38.46 6 0 0.00 1 0 0.00