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 ARID1A 8289 genome.wustl.edu 37 1 27057973 27057973 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006015.4 +1 reviewed p.Q561* 1.000 360 0% 316 27.8% 15 20% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27107092 27107095 + Frame_Shift_Del DEL GCCC GCCC - novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 GCCC GCCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006015.4 +1 reviewed p.A2237fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL DPYD 1806 genome.wustl.edu 37 1 98039426 98039426 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_000110.3 -1 reviewed p.R410Q 1.000 343 0% 167 22.2% 5 0% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_Pyr_redox_2,superfamily_SSF51971 PROX1 5629 genome.wustl.edu 37 1 214171556 214171556 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_002763.3 +1 provisional p.G560S 1.000 89 0% 90 27.8% 27 74% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_Prox1 OBSCN 84033 genome.wustl.edu 37 1 228467940 228467940 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001098623.1 +1 reviewed p.A2575V 0.277 48 0% 53 22.6% 2 0% benign(0.052) - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin APOB 338 genome.wustl.edu 37 2 21260108 21260108 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_000384.2 -1 reviewed p.C186F 1.000 206 0% 191 26.7% 0 - probably_damaging(0.999) - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions C2orf71 388939 genome.wustl.edu 37 2 29295352 29295352 + Silent SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001029883.1 -1 provisional p.T592 0.852 65 0% 80 17.5% 0 - - - - NULL TTC7A 57217 genome.wustl.edu 37 2 47177665 47177665 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000441914 +1 known p.R116H 0.072 110 0% 114 27.2% 8 37.5% - - - NULL ADD2 119 genome.wustl.edu 37 2 70905924 70905924 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001617.3 -1 reviewed p.R432H 1.000 129 0% 167 27.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL INO80D 54891 genome.wustl.edu 37 2 206874391 206874391 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_017759.4 -1 validated p.R557Q 1.000 320 0% 289 22.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TNS1 7145 genome.wustl.edu 37 2 218678441 218678441 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_022648.4 -1 reviewed p.P1506S 0.998 309 0% 254 29.5% 14 0% benign(0.264) deleterious(0.02) neutral(0.411) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 ATP2B2 491 genome.wustl.edu 37 3 10417136 10417136 + Missense_Mutation SNP A A G novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001001331.2 -1 reviewed p.I465T 1.000 25 0% 25 24% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M CTNNB1 1499 genome.wustl.edu 37 3 41266100 41266100 + Missense_Mutation SNP T T C novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001098209.1 +1 reviewed p.S33P 1.000 125 0% 107 29% 551 49.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR52 55779 genome.wustl.edu 37 3 113052263 113052263 + Missense_Mutation SNP A A G novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000393845 -1 known p.L350P 0.885 230 0% 190 23.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PLXNA1 5361 genome.wustl.edu 37 3 126733176 126733176 + Silent SNP G G A rs182679484 by1000genomes TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_032242.3 +1 validated p.A831 1.000 5 0.000 13 0.769 12 66.6% - - - HMMPfam_PSI,HMMSmart_SM00423 EPHB1 2047 genome.wustl.edu 37 3 134670510 134670510 + Missense_Mutation SNP G G T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_004441.4 +1 reviewed p.A141S 1.000 214 0% 160 26.9% 0 - benign(0.058) deleterious(0.01) neutral(0.409) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like PIK3CA 5290 genome.wustl.edu 37 3 178916728 178916728 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006218.2 +1 reviewed p.E39K 1.000 76 0% 60 30% 2 0% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006218.2 +1 reviewed p.G118D 1.000 200 0% 159 23.9% 3 0% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) superfamily_SSF54236 LOC100288554 100288554 genome.wustl.edu 37 4 9431335 9431335 + Silent SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d XM_002342446.1 +1 model p.T98 0.221 471 0% 361 19.9% 0 - - - - HMMPfam_Defensin_beta,superfamily_Defensin-like SCARB2 950 genome.wustl.edu 37 4 77096968 77096968 + Missense_Mutation SNP T T C novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_005506.2 -1 reviewed p.Y267C 1.000 223 0% 178 24.2% 61 37.7% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_CD36 PCDHB2 56133 genome.wustl.edu 37 5 140476372 140476372 + Silent SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_018936.2 +1 reviewed p.D666 0.982 36 0% 30 26.7% 11 45.4% - - - HMMSmart_CA,superfamily_Cadherin HIST1H4D 8360 genome.wustl.edu 37 6 26189262 26189262 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_003539.3 -1 reviewed p.G15C 1.000 55 0% 39 33.3% 0 - unknown(0) deleterious(0) - superfamily_Histone-fold,PatternScan_HISTONE_H4 HSP90AB1 3326 genome.wustl.edu 37 6 44217133 44217133 + Missense_Mutation SNP A A G novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_007355.2 +1 provisional p.Y56C 1.000 139 0% 145 30.3% 788 55.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SHPRH 257218 genome.wustl.edu 37 6 146276252 146276252 + Missense_Mutation SNP A A C novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001042683.2 -1 validated p.D69E 0.316 190 0% 126 19% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL CAMK2B 816 genome.wustl.edu 37 7 44281817 44281817 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000433930 -1 known p.A30V 1.000 305 0% 274 23.7% 0 - - - - superfamily_Protein kinase-like (PK-like) PEX1 5189 genome.wustl.edu 37 7 92129128 92129128 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_000466.2 -1 reviewed p.P870S 1.000 199 0% 173 15.6% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases MUC17 140453 genome.wustl.edu 37 7 100682802 100682802 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001040105.1 +1 provisional p.T2702M 0.001 353 0% 421 27.3% 0 - probably_damaging(1) - - NULL LUC7L2 51631 genome.wustl.edu 37 7 139092031 139092031 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_016019.2 +1 validated p.D208N 1.000 146 0% 117 23.1% 29 20.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_LUC7 PCM1 5108 genome.wustl.edu 37 8 17863822 17863822 + Silent SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006197.3 +1 validated p.R1626 0.991 176 0% 107 25.2% 55 38.1% - - - NULL SULF1 23213 genome.wustl.edu 37 8 70533457 70533457 + Missense_Mutation SNP G G C novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001128204.1 +1 validated p.R522P 0.998 105 0% 61 19.7% 58 0% possibly_damaging(0.91) tolerated(0.08) deleterious(0.662) superfamily_Alkaline_phosphatase_core RALYL 138046 genome.wustl.edu 37 8 85441621 85441621 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001100391.1 +1 validated p.R35H 0.999 184 0% 179 25.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00360,superfamily_RNA-binding domain RBD TG 7038 genome.wustl.edu 37 8 133961173 133961173 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_003235.4 +1 reviewed p.Q1796K 1.000 293 0% 219 22.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAMTS13 11093 genome.wustl.edu 37 9 136290691 136290691 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_139025.3 +1 reviewed p.R125W 1.000 47 0% 44 15.9% 0 - benign(0.282) deleterious(0.01) deleterious(0.492) "superfamily_Metalloproteases (""zincins"") catalytic domain" SARDH 1757 genome.wustl.edu 37 9 136584058 136584058 + Splice_Site SNP A A G novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001134707.1 -1 reviewed e6+2 1.000 116 0% 104 25% 0 - - - - - WDFY4 57705 genome.wustl.edu 37 10 50028406 50028406 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_020945.1 +1 validated p.T1878M 0.000 44 0% 45 17.8% 0 - benign(0) tolerated(0.52) neutral(0.009) NULL HKDC1 80201 genome.wustl.edu 37 10 70998834 70998834 + Silent SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_025130.3 +1 validated p.R178 0.073 112 0% 95 22.1% 0 - - - - HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain GHITM 27069 genome.wustl.edu 37 10 85909925 85909925 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_014394.2 +1 validated p.A236V 0.997 290 0% 235 16.6% 353 42.2% possibly_damaging(0.794) deleterious(0) deleterious(0.742) HMMPfam_UPF0005 PTEN 5728 genome.wustl.edu 37 10 89624249 89624249 + Frame_Shift_Del DEL T T - novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000371953 +1 known p.I8fs 1.000 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89717715 89717716 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000371953 +1 known p.P248fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 MUC5B 727897 genome.wustl.edu 37 11 1262585 1262585 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_002458.1 +1 validated p.T1495M 0.000 75 0% 86 30.2% 0 - possibly_damaging(0.763) - - NULL KRTAP5-1 387264 genome.wustl.edu 37 11 1605790 1605790 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001005922.1 -1 validated p.C230 0.472 217 0% 234 17.9% 2 50% - - - PatternScan_ZN2_CY6_FUNGAL_1 GLB1L3 112937 genome.wustl.edu 37 11 134147714 134147714 + Silent SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001080407.2 +1 validated p.F90 0.020 118 0% 107 38.3% 0 - - - - HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases KRT6B 3854 genome.wustl.edu 37 12 52841137 52841137 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_005555.3 -1 reviewed p.G511E 0.388 185 0% 168 24.4% 0 - unknown(0) tolerated(0.09) - NULL SRGAP1 57522 genome.wustl.edu 37 12 64456756 64456756 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_020762.2 +1 validated p.A287 1.000 222 0% 188 29.8% 0 - - - - NULL DDX54 79039 genome.wustl.edu 37 12 113617797 113617797 + Silent SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001111322.1 -1 reviewed p.P106 0.023 156 0% 152 29.6% 61 36% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases FAM70B 348013 genome.wustl.edu 37 13 114469115 114469115 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_182614.2 +1 provisional p.S25L 0.994 90 0% 86 26.7% 1 0% possibly_damaging(0.825) deleterious(0) deleterious(0.757) NULL IGHM 3507 genome.wustl.edu 37 14 106322172 106322172 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000496208 -1 known p.S50I 0.000 189 0% 163 38.7% 64 0% benign(0.401) tolerated(0.13) neutral(0.382) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin HERC2 8924 genome.wustl.edu 37 15 28360632 28360632 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_004667.4 -1 reviewed p.A4555 0.001 58 0% 72 29.2% 18 50% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain SIN3A 25942 genome.wustl.edu 37 15 75674045 75674045 + Missense_Mutation SNP A A C novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001145357.1 -1 reviewed p.L1066R 1.000 141 0% 133 52.6% 35 88.5% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL BAIAP3 8938 genome.wustl.edu 37 16 1392245 1392245 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_003933.3 +1 reviewed p.H341Q 1.000 65 0% 71 26.8% 0 - benign(0.129) tolerated(0.15) neutral(0.252) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CTCF 10664 genome.wustl.edu 37 16 67644787 67644787 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006565.2 +1 reviewed p.G19fs 1.000 - - - - - - - - - NULL SLC13A5 284111 genome.wustl.edu 37 17 6594246 6594246 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_177550.3 -1 validated p.S430F 1.000 132 0% 141 22.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_sulph_symp CHD3 1107 genome.wustl.edu 37 17 7807889 7807889 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001005271.2 +1 reviewed p.R1401W 0.998 186 0% 199 24.1% 15 0% probably_damaging(1) - - HMMPfam_DUF1087 CNTROB 116840 genome.wustl.edu 37 17 7851000 7851000 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d ENST00000380262 +1 known p.P702L 0.180 76 0% 85 25.9% 26 34.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MED13 9969 genome.wustl.edu 37 17 60088386 60088386 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_005121.2 -1 reviewed p.V498L 1.000 406 0% 356 29.2% 30 43.3% possibly_damaging(0.593) tolerated(0.56) neutral(0.211) NULL NEDD4L 23327 genome.wustl.edu 37 18 56050532 56050532 + Missense_Mutation SNP A A G novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001144967.1 +1 validated p.N803D 1.000 295 0% 308 24.4% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain EEF2 1938 genome.wustl.edu 37 19 3982300 3982300 + Silent SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001961.3 -1 reviewed p.G245 0.983 151 0% 164 24.4% 1953 48% - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases TSHZ3 57616 genome.wustl.edu 37 19 31769277 31769277 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_020856.2 -1 validated p.V474 0.005 160 0% 152 33.6% 4 0% - - - NULL PTPRH 5794 genome.wustl.edu 37 19 55696971 55696971 + Silent SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_002842.3 -1 validated p.H987 0.724 95 0% 91 28.6% 4 75% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II COL6A2 1292 genome.wustl.edu 37 21 47539000 47539000 + Silent SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001849.3 +1 reviewed p.G412 0.021 39 0% 32 15.6% 60 0% - - - HMMPfam_Collagen CNKSR2 22866 genome.wustl.edu 37 X 21458859 21458859 + Missense_Mutation SNP T T C novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_014927.3 +1 reviewed p.V160A 1.000 222 0% 169 21.9% 1 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_CRIC_ras_sig DCAF8L1 139425 genome.wustl.edu 37 X 27998032 27998032 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_001017930.1 -1 reviewed p.Q474* 1.000 243 0% 193 23.3% 1 100% - - - HMMSmart_WD40,superfamily_WD40_like FAM47B 170062 genome.wustl.edu 37 X 34961511 34961511 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_152631.2 +1 validated p.C188Y 0.057 75 0% 69 18.8% 0 - benign(0.001) tolerated(0.06) neutral(0.323) NULL SMC1A 8243 genome.wustl.edu 37 X 53407567 53407567 + Missense_Mutation SNP C C T novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_006306.2 -1 reviewed p.E1198K 1.000 204 0% 166 31.9% 65 55.3% benign(0.102) deleterious(0) neutral(0.453) HMMPfam_SMC_N,superfamily_SSF52540 MED12 9968 genome.wustl.edu 37 X 70343021 70343021 + Missense_Mutation SNP G G A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_005120.2 +1 reviewed p.R521H 1.000 426 0% 409 24.7% 12 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RLIM 51132 genome.wustl.edu 37 X 73815791 73815791 + Missense_Mutation SNP C C G novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_016120.3 -1 reviewed p.D8H 0.996 158 0% 113 20.4% 3 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL RGAG1 57529 genome.wustl.edu 37 X 109696151 109696151 + Missense_Mutation SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_020769.2 +1 validated p.T769K 0.064 222 0% 188 23.9% 0 - possibly_damaging(0.663) tolerated(0.54) neutral(0.242) NULL LDOC1 23641 genome.wustl.edu 37 X 140271105 140271105 + Silent SNP C C A novel TCGA-B5-A11X-01A-11D-A10M-09 TCGA-B5-A11X-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca36a979-641b-4af7-b224-d47ef36e21ba 85cb816c-492f-48b5-8ce1-7b75ad797f7d NM_012317.2 -1 reviewed p.V34 0.999 28 0% 35 28.6% 120 0% - - - NULL