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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain CELA3A 10136 genome.wustl.edu 37 1 22336306 22336306 + Missense_Mutation SNP A A C novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_005747.4 +1 reviewed p.T251P 1.000 190 0% 134 41.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C1orf94 84970 genome.wustl.edu 37 1 34684296 34684296 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001134734.1 +1 validated p.S577 0.002 264 0% 255 48.2% 0 - - - - NULL INPP5B 3633 genome.wustl.edu 37 1 38331538 38331538 + Silent SNP G G C novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_005540.2 -1 reviewed p.A803 0.002 165 0% 207 41.5% 15 40% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP LRRC7 57554 genome.wustl.edu 37 1 70503836 70503836 + Missense_Mutation SNP T T A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_020794.2 +1 validated p.L739I 1.000 219 0% 74 40.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PHTF1 10745 genome.wustl.edu 37 1 114248691 114248691 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_006608.2 -1 validated p.R498C 0.986 109 0% 50 48% 19 57.8% probably_damaging(0.983) tolerated(0.06) deleterious(0.752) NULL RPS7 6201 genome.wustl.edu 37 2 3623448 3623448 + Missense_Mutation SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001011.3 +1 reviewed p.Q39H 1.000 132 0% 148 42.6% 1445 49.2% benign(0.009) tolerated(0.11) neutral(0.272) HMMPfam_Ribosomal_S7e TTN 7273 genome.wustl.edu 37 2 179596508 179596508 + Silent SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 ENST00000356127 -1 known p.K4454 1.000 79 0% 53 34% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set PTPRN 5798 genome.wustl.edu 37 2 220172184 220172184 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_002846.2 -1 reviewed p.R88* 1.000 106 0% 158 45.6% 0 - - - - NULL CTNNB1 1499 genome.wustl.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 byCluster TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001098209.1 +1 reviewed p.T41A 1.000 123 0% 49 44.9% 312 42.9% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL C3orf75 54859 genome.wustl.edu 37 3 47543198 47543198 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001031703.2 -1 validated p.A156V 0.741 152 0% 168 47.6% 47 48.9% benign(0.01) tolerated(0.36) neutral(0.021) HMMPfam_DUF2348 EIF4A2 1974 genome.wustl.edu 37 3 186505363 186505368 + In_Frame_Del DEL CTGACT CTGACT - novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 CTGACT CTGACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001967.3 +1 validated p.TDL330in_frame_delM 1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CTNND2 1501 genome.wustl.edu 37 5 11098726 11098726 + Silent SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001332.2 -1 validated p.A866 0.971 204 0% 78 37.2% 2 0% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PIK3R1 5295 genome.wustl.edu 37 5 67591119 67591120 + In_Frame_Ins INS - - CCG novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_181523.1 +1 reviewed p.572in_frame_insR 1.000:0.996 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591122 67591122 + Missense_Mutation SNP A A G novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_181523.1 +1 reviewed p.Q572R 1.000 320 0% 161 39.8% 71 5.6% probably_damaging(0.985) tolerated(0.08) deleterious(0.732) NULL FBN2 2201 genome.wustl.edu 37 5 127685051 127685051 + Missense_Mutation SNP G G C novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001999.3 -1 reviewed p.R993G 1.000 153 0% 88 40.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00179,superfamily_TB module/8-cys domain,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA H2AFY 9555 genome.wustl.edu 37 5 134696232 134696232 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_138610.2 -1 reviewed p.D181 0.150 188 0% 104 39.4% 199 38.1% - - - NULL DST 667 genome.wustl.edu 37 6 56473489 56473489 + Missense_Mutation SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 ENST00000370769 -1 known p.D1768E 0.982 157 0% 55 30.9% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00250,superfamily_Plakin repeat FNDC1 84624 genome.wustl.edu 37 6 159660742 159660742 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 ENST00000329629 +1 known p.A1354T 0.000 246 0% 337 41.2% 0 - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101459346 101459346 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001913.2 +1 reviewed p.W12* 1.000 111 0% 152 34.2% 2 0% - - - NULL WHSC1L1 54904 genome.wustl.edu 37 8 38189004 38189004 + Missense_Mutation SNP T T G novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_023034.1 -1 reviewed p.E337A 1.000 261 0.4% 273 48.4% 21 33.3% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_PWWP,superfamily_Tudor/PWWP/MBT PKHD1L1 93035 genome.wustl.edu 37 8 110476595 110476595 + Missense_Mutation SNP C C A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_177531.4 +1 validated p.L2512M 1.000 142 0% 32 40.6% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00710 COL5A1 1289 genome.wustl.edu 37 9 137687112 137687112 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_000093.3 +1 reviewed p.P917L 1.000 212 0% 276 43.1% 8 0% probably_damaging(0.99) tolerated(0.46) neutral(0.454) HMMPfam_Collagen TUBAL3 79861 genome.wustl.edu 37 10 5436059 5436059 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_024803.2 -1 validated p.P254 1.000 286 0% 308 44.8% 0 - - - - superfamily_Tubulin C-terminal domain-like PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 ENST00000371953 +1 known p.R130G 1.000 291 0% 73 76.7% 45 91.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II NRAP 4892 genome.wustl.edu 37 10 115413835 115413835 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_198060.2 -1 validated p.A137V 0.932 212 0% 55 47.3% 0 - benign(0.016) tolerated(0.14) neutral(0.250) NULL MUC5B 727897 genome.wustl.edu 37 11 1267760 1267760 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_002458.1 +1 validated p.G3220E 0.000 834 0% 934 46.9% 22 59% unknown(0) - - NULL IGSF22 283284 genome.wustl.edu 37 11 18736168 18736168 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_173588.3 -1 validated p.R512H 0.310 262 0% 234 46.6% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) superfamily_SSF48726 OR4A16 81327 genome.wustl.edu 37 11 55110792 55110792 + Missense_Mutation SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001005274.1 +1 provisional p.G39V 0.385 150 0% 45 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4D6 219983 genome.wustl.edu 37 11 59224495 59224495 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001004708.1 +1 provisional p.R21Q 0.000 556 0% 369 14.1% 0 - benign(0.001) tolerated(0.51) neutral(0.009) superfamily_SSF81321 NUDT22 84304 genome.wustl.edu 37 11 63994220 63994220 + Silent SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001128612.1 +1 validated p.R32 1.000 46 0% 56 41.1% 64 51.5% - - - NULL PRSS23 11098 genome.wustl.edu 37 11 86519583 86519583 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_007173.4 +1 validated p.E300K 1.000 168 0% 119 47.1% 391 31.4% probably_damaging(0.978) tolerated(0.44) neutral(0.433) superfamily_Trypsin-like serine proteases TMPRSS5 80975 genome.wustl.edu 37 11 113561588 113561588 + Silent SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_030770.2 -1 reviewed p.G346 1.000 46 0% 56 48.2% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PCSK7 9159 genome.wustl.edu 37 11 117079691 117079691 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_004716.2 -1 reviewed p.R538Q 0.880 169 0% 151 21.2% 38 0% benign(0.161) deleterious(0.04) neutral(0.363) HMMPfam_P_proprotein,superfamily_Gal_bind_like IGSF9B 22997 genome.wustl.edu 37 11 133794781 133794781 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_014987.1 -1 validated p.R685W 1.000 95 0% 149 48.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CHD4 1108 genome.wustl.edu 37 12 6701926 6701926 + Missense_Mutation SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001273.2 -1 reviewed p.P904T 1.000 196 0% 192 43.8% 79 45.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MSRB3 253827 genome.wustl.edu 37 12 65722349 65722350 + In_Frame_Ins INS - - ATA novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_198080.2 +1 validated p.85in_frame_insN 1.000:1.000 - - - - - - - - - HMMPfam_SelR,superfamily_Mss4_like KNTC1 9735 genome.wustl.edu 37 12 123068907 123068907 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_014708.4 +1 reviewed p.D1116N 0.273 302 0% 253 36.4% 1 100% benign(0) tolerated(0.56) neutral(0.006) NULL KNTC1 9735 genome.wustl.edu 37 12 123069517 123069517 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_014708.4 +1 reviewed p.D1172N 0.999 193 0% 206 45.1% 0 - possibly_damaging(0.7) tolerated(0.4) neutral(0.268) NULL PNMA1 9240 genome.wustl.edu 37 14 74179357 74179357 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_006029.4 -1 validated p.R329H 0.970 50 0% 66 47% 43 37.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BAHD1 22893 genome.wustl.edu 37 15 40754326 40754326 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_014952.3 +1 validated p.R550C 1.000 53 0% 58 19% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL THSD4 79875 genome.wustl.edu 37 15 72039269 72039269 + Missense_Mutation SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_024817.2 +1 provisional p.R710L 1.000 64 0% 83 39.8% 6 16.6% probably_damaging(0.994) tolerated(0.66) neutral(0.455) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TPSG1 25823 genome.wustl.edu 37 16 1272275 1272275 + Missense_Mutation SNP C C T rs143120059 by1000genomes TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_012467.3 -1 reviewed p.R193H 0.000 9 0.000 19 0.579 0 - possibly_damaging(0.812) deleterious(0.02) deleterious(0.689) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TRAF7 84231 genome.wustl.edu 37 16 2221293 2221293 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_032271.2 +1 validated p.S126L 0.989 51 0% 47 48.9% 42 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_RING/U-box B3GNT9 84752 genome.wustl.edu 37 16 67183868 67183868 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_033309.2 -1 validated p.A174V 0.001 26 0% 28 53.6% 12 50% benign(0.005) tolerated(0.29) neutral(0.029) HMMPfam_Galactosyl_T MYH2 4620 genome.wustl.edu 37 17 10428768 10428768 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001100112.1 -1 reviewed p.Q1513* 1.000 192 0.5% 108 49.1% 0 - - - - HMMPfam_Myosin_tail_1 MED24 9862 genome.wustl.edu 37 17 38178659 38178659 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 ENST00000422942 -1 known p.R92* 0.002 192 0.5% 236 42.8% 72 48.6% - - - NULL SLC4A1 6521 genome.wustl.edu 37 17 42328788 42328788 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_000342.3 -1 reviewed p.R827Q 1.000 135 0% 216 43.5% 3 66.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_HCO3_cotransp HELZ 9931 genome.wustl.edu 37 17 65134141 65134141 + Silent SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_014877.3 -1 validated p.V953 0.998 351 0% 115 39.1% 3 0% - - - superfamily_SSF52540 AFG3L2 10939 genome.wustl.edu 37 18 12367358 12367358 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_006796.1 -1 reviewed p.R106C 0.003 306 0.3% 203 15.3% 13 7.6% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL CABYR 26256 genome.wustl.edu 37 18 21736770 21736770 + Missense_Mutation SNP G G T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_012189.2 +1 reviewed p.E435D 0.001 51 0% 36 55.6% 2 50% unknown(0) deleterious(0) - NULL CLEC4M 10332 genome.wustl.edu 37 19 7833780 7833780 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_014257.4 +1 reviewed p.A369V 0.002 262 0% 222 18.5% 0 - benign(0.004) tolerated(0.61) neutral(0.004) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 NR2F6 2063 genome.wustl.edu 37 19 17343188 17343188 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_005234.3 -1 validated p.F396 1.000 93 0% 128 45.3% 125 48.8% - - - NULL ARHGAP33 115703 genome.wustl.edu 37 19 36278418 36278418 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_052948.3 +1 reviewed p.R823Q 0.822 15 0% 22 31.8% 3 33.3% possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) NULL LILRB1 10859 genome.wustl.edu 37 19 55148204 55148204 + Missense_Mutation SNP C C A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001081637.1 +1 reviewed p.Q612K 0.008 435 0% 413 35.1% 6 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL SSTR4 6754 genome.wustl.edu 37 20 23016948 23016948 + Silent SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001052.2 +1 validated p.Y276 0.976 526 0% 689 44.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 KIF3B 9371 genome.wustl.edu 37 20 30904625 30904625 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_004798.2 +1 reviewed p.R566C 1.000 167 0.6% 63 50.8% 18 38.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL JPH2 57158 genome.wustl.edu 37 20 42788455 42788455 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_020433.4 -1 reviewed p.H324 1.000 76 0% 77 28.6% 0 - - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain ABHD16B 140701 genome.wustl.edu 37 20 62493566 62493566 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_080622.3 +1 validated p.V225M 1.000 42 0% 49 49% 8 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Abhydrolase_1,superfamily_SSF53474 TIAM1 7074 genome.wustl.edu 37 21 32492843 32492843 + Missense_Mutation SNP C C T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_003253.2 -1 validated p.R1540Q 0.935 134 0% 69 33.3% 6 50% benign(0.045) deleterious(0.01) neutral(0.408) NULL PNPLA5 150379 genome.wustl.edu 37 22 44280171 44280171 + Missense_Mutation SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_138814.3 -1 reviewed p.S335L 0.001 90 0% 83 21.7% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) NULL FANCB 2187 genome.wustl.edu 37 X 14861927 14861927 + Missense_Mutation SNP T T A rs35806617 TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001018113.1 -1 reviewed p.E781V 0.008 334 0% 138 50.7% 2 0% probably_damaging(0.962) tolerated(0.24) neutral(0.443) NULL MAP3K15 389840 genome.wustl.edu 37 X 19444398 19444398 + Silent SNP C C A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 ENST00000338883 -1 known p.L410 1.000 181 0% 91 34.1% 0 - - - - NULL HEPH 9843 genome.wustl.edu 37 X 65474907 65474907 + Missense_Mutation SNP C C A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_138737.3 +1 reviewed p.P868Q 1.000 177 0% 50 42% 7 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Cupredoxins CXorf65 158830 genome.wustl.edu 37 X 70324227 70324227 + Missense_Mutation SNP A A T novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001025265.2 -1 validated p.L116Q 0.315 193 0% 167 43.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL BGN 633 genome.wustl.edu 37 X 152770303 152770303 + Silent SNP C C A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_001711.4 +1 reviewed p.R72 0.995 115 0% 157 44.6% 185 0% - - - HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 PDZD4 57595 genome.wustl.edu 37 X 153070284 153070284 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_032512.2 -1 provisional p.S278 0.954 43 0% 63 42.9% 1 0% - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153128232 153128232 + Silent SNP G G A novel TCGA-B5-A11Z-01A-11D-A10M-09 TCGA-B5-A11Z-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44aa67a7-6bdf-4f76-9976-5f3ac77deb47 ff436ee5-2ecd-409c-b379-e4337e23dbb0 NM_000425.3 -1 reviewed p.N1220 0.898 150 0% 178 41% 0 - - - - NULL