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 TP73 7161 genome.wustl.edu 37 1 3644716 3644716 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_005427.2 +1 reviewed p.V337I 0.006 9 0.000 10 0.400 - - benign(0) tolerated(1) - NULL MYSM1 114803 genome.wustl.edu 37 1 59154778 59154778 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001085487.1 -1 provisional p.P111S 1.000 75 0% 41 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCAN 63827 genome.wustl.edu 37 1 156622708 156622708 + Missense_Mutation SNP G G T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_198427.1 +1 validated p.A656S 0.000 211 0% 163 25.8% - - benign(0) tolerated(0.96) - NULL SPTA1 6708 genome.wustl.edu 37 1 158592966 158592966 + Missense_Mutation SNP C C A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_003126.2 -1 reviewed p.S1976I 1.000 334 0% 280 34.3% - - benign(0.245) deleterious(0.01) neutral(0.431) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MNDA 4332 genome.wustl.edu 37 1 158815489 158815489 + Missense_Mutation SNP C C A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_002432.1 +1 reviewed p.P228Q 0.001 119 0% 106 28.3% - - possibly_damaging(0.923) tolerated(0.24) neutral(0.410) HMMPfam_HIN PRRC2C 23215 genome.wustl.edu 37 1 171535758 171535759 + Frame_Shift_Del DEL AA AA - novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_015172.3 +1 validated p.K2110fs 1.000:1.000 - - - - - - - - - NULL WDR43 23160 genome.wustl.edu 37 2 29129328 29129328 + Missense_Mutation SNP T T G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_015131.1 +1 validated p.S122R 1.000 20 0% 19 21.1% - - benign(0.045) tolerated(0.2) neutral(0.052) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 VIT 5212 genome.wustl.edu 37 2 36982179 36982179 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_053276.3 +1 validated p.E131K 1.000 179 0% 167 32.3% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_LCCL,superfamily_LCCL SNRNP27 11017 genome.wustl.edu 37 2 70131394 70131394 + Missense_Mutation SNP T T G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_006857.1 +1 provisional p.M141R 1.000 238 0% 191 59.7% - - possibly_damaging(0.727) deleterious(0) deleterious(0.709) HMMPfam_DUF1777 CNTNAP5 129684 genome.wustl.edu 37 2 125281937 125281937 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_130773.2 +1 reviewed p.R461H 1.000 109 0% 87 57.5% - - benign(0.064) tolerated(1) neutral(0.004) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 GPR155 151556 genome.wustl.edu 37 2 175301028 175301028 + Missense_Mutation SNP A A C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001033045.2 -1 validated p.V810G 1.000 211 1.9% 180 68.9% - - possibly_damaging(0.861) deleterious(0.01) deleterious(0.739) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" TTN 7273 genome.wustl.edu 37 2 179446423 179446423 + Missense_Mutation SNP T T C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000356127 -1 known p.Y19621C 1.000 36 0% 23 73.9% - - probably_damaging(0.964) - - HMMPfam_fn3,HMMSmart_SM00060 MYO1B 4430 genome.wustl.edu 37 2 192234281 192234281 + Missense_Mutation SNP G G C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001130158.1 +1 validated p.R349P 1.000 91 0% 104 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TYW5 129450 genome.wustl.edu 37 2 200800663 200800663 + Missense_Mutation SNP A A G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001039693.2 -1 validated p.F228L 1.000 243 0% 185 67% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00558,superfamily_Clavaminate synthase-like SPEG 10290 genome.wustl.edu 37 2 220326653 220326653 + Nonsense_Mutation SNP C C G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_005876.4 +1 validated p.Y830* 0.998 76 0% 59 27.1% - - - - - NULL DIS3L2 129563 genome.wustl.edu 37 2 233001224 233001224 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_152383.4 +1 validated p.G249S 1.000 649 0% 660 64.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001098209.1 +1 reviewed p.D32N 1.000 46 0% 59 54.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ECT2 1894 genome.wustl.edu 37 3 172523535 172523535 + Silent SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000437296 +1 known p.A47T 0.957 110 0% 79 36.7% - - - - - superfamily_PH domain-like PKD2 5311 genome.wustl.edu 37 4 88940681 88940681 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_000297.2 +1 reviewed p.E223* 1.000 208 0% 104 40.4% - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591095 67591115 + In_Frame_Del DEL TGAACAGCATTAAACCAGACC TGAACAGCATTAAACCAGACC - novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 TGAACAGCATTAAACCAGACC TGAACAGCATTAAACCAGACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_181523.1 +1 reviewed p.MNSIKPDL563in_frame_delI 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:0.892:1.000:1.000:0.152:1.000:1.000:1.000:1.000 - - - - - - - - - NULL PCDHA9 9752 genome.wustl.edu 37 5 140230065 140230065 + Missense_Mutation SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_031857.1 +1 reviewed p.T662M 1.000 25 0% 30 40% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CTGF 1490 genome.wustl.edu 37 6 132271194 132271194 + Silent SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001901.2 -1 reviewed p.G216 1.000 81 0% 39 46.2% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SGK1 6446 genome.wustl.edu 37 6 134493908 134493910 + In_Frame_Del DEL AAC AAC - novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001143676.1 -1 reviewed p.L279in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MIR548A2 693126 genome.wustl.edu 37 6 135560373 135560373 + RNA SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000384956 +1 known NULL 0.032 55 0% 10 50% - - - - - - GRM1 2911 genome.wustl.edu 37 6 146350715 146350715 + Missense_Mutation SNP G G C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_000838.3 +1 reviewed p.R21T 0.355 182 0% 151 49.7% - - benign(0) tolerated(0.44) neutral(0.013) NULL TMED4 222068 genome.wustl.edu 37 7 44620698 44620698 + Silent SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_182547.2 -1 provisional p.Y176 1.000 42 0% 65 35.4% - - - - - HMMPfam_EMP24_GP25L ADRA1A 148 genome.wustl.edu 37 8 26721685 26721685 + Nonsense_Mutation SNP T T A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_033303.3 -1 reviewed p.K268* 1.000 39 0% 13 53.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 SECISBP2 79048 genome.wustl.edu 37 9 91940437 91940437 + Missense_Mutation SNP C C G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_024077.3 +1 reviewed p.S93C 0.155 376 0.3% 280 47.1% - - possibly_damaging(0.66) tolerated(0.06) deleterious(0.555) NULL NUP188 23511 genome.wustl.edu 37 9 131745645 131745645 + Missense_Mutation SNP C C G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_015354.1 +1 validated p.R624G 1.000 185 0% 126 42.1% - - probably_damaging(0.98) tolerated(0.34) neutral(0.447) HMMPfam_Nup188 HK1 3098 genome.wustl.edu 37 10 71144659 71144659 + Silent SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_033497.2 +1 reviewed p.T613 0.624 213 0% 149 16.1% - - - - - HMMPfam_Hexokinase_1,PatternScan_HEXOKINASES,superfamily_SSF53067 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000371953 +1 known p.R130G 1.000 310 0.3% 292 30.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720862 89720879 + Frame_Shift_Del DEL CTCCAAATTTTAAGGTCA CTCCAAATTTTAAGGTCA - novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 CTCCAAATTTTAAGGTCA CTCCAAATTTTAAGGTCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000371953 +1 known p.S338fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 HNRNPUL2 221092 genome.wustl.edu 37 11 62484515 62484515 + Missense_Mutation SNP G G C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001079559.1 -1 provisional p.R643G 0.986 61 0% 40 35% - - possibly_damaging(0.951) tolerated(0.31) neutral(0.421) NULL CDC42BPG 55561 genome.wustl.edu 37 11 64606564 64606564 + Missense_Mutation SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_017525.2 -1 validated p.E273K 1.000 31 0.000 5 1.000 - - benign(0.054) deleterious(0.01) neutral(0.409) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CACNA1C 775 genome.wustl.edu 37 12 2690805 2690805 + Missense_Mutation SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_199460.2 +1 reviewed p.R649C 1.000 20 0% 10 60% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ENSG00000248116 0 genome.wustl.edu 37 12 19460458 19460458 + RNA SNP A A C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000510738 +1 novel NULL 0.996 97 0% 49 53.1% - - - - - - PDZRN4 29951 genome.wustl.edu 37 12 41900376 41900376 + Missense_Mutation SNP A A G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_013377.3 +1 validated p.Y63C 0.187 148 0% 79 39.2% - - possibly_damaging(0.502) tolerated(0.18) neutral(0.224) superfamily_PDZ KL 9365 genome.wustl.edu 37 13 33627997 33627997 + Missense_Mutation SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_004795.3 +1 reviewed p.P305S 1.000 278 0% 164 53.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases RNF31 55072 genome.wustl.edu 37 14 24617281 24617281 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_017999.4 +1 validated p.G97S 0.393 78 0% 26 50% - - benign(0) tolerated(1) - HMMPfam_PUB MDGA2 161357 genome.wustl.edu 37 14 47389346 47389346 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001113498.1 -1 validated p.E634* 1.000 130 0% 81 46.9% - - - - - NULL C14orf101 54916 genome.wustl.edu 37 14 57114171 57114171 + Silent SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_017799.3 +1 validated p.L694 1.000 183 0% 112 46.4% - - - - - NULL MAN2C1 4123 genome.wustl.edu 37 15 75648270 75648270 + Missense_Mutation SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_006715.2 -1 validated p.V1034M 0.069 23 0% 19 63.2% - - unknown(0) tolerated(0.16) - NULL ACSM1 116285 genome.wustl.edu 37 16 20648124 20648124 + Silent SNP T T C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_052956.2 -1 validated p.T412 0.037 163 0% 95 42.1% - - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ZFHX3 463 genome.wustl.edu 37 16 72827610 72827611 + Frame_Shift_Ins INS - - A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_006885.3 -1 reviewed p.Q2990fs 1.000:1.000 - - - - - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PRPF8 10594 genome.wustl.edu 37 17 1561558 1561558 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_006445.3 -1 reviewed p.R1832C 1.000 124 0% 111 45.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C17orf108 201229 genome.wustl.edu 37 17 26207381 26207381 + Missense_Mutation SNP A A G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000379103 -1 known p.F99S 1.000 36 0% 13 76.9% - - unknown(0) - - NULL ABCA9 10350 genome.wustl.edu 37 17 67045552 67045552 + Missense_Mutation SNP T T G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_080283.3 -1 reviewed p.Q59P 0.013 177 0% 93 48.4% - - benign(0.045) tolerated(0.13) neutral(0.255) NULL MUC16 94025 genome.wustl.edu 37 19 8966791 8966791 + Missense_Mutation SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_024690.2 -1 validated p.G14388R 0.004 30 0% 16 43.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain ATP1A3 478 genome.wustl.edu 37 19 42482315 42482315 + Silent SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_152296.3 -1 reviewed p.S598 0.536 132 0% 63 49.2% - - - - - HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81665 TSKS 60385 genome.wustl.edu 37 19 50249933 50249950 + In_Frame_Del DEL CTGCTTCTCCTCCGGCTC CTGCTTCTCCTCCGGCTC - novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 CTGCTTCTCCTCCGGCTC CTGCTTCTCCTCCGGCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_021733.1 -1 reviewed p.EPEEKQ257in_frame_del 0.770:0.699:0.675:0.634:0.568:0.473:0.430:0.417:0.419:0.415:0.402:0.382:0.379:0.392:0.396:0.394:0.384:0.208 - - - - - - - - - NULL CACNG6 59285 genome.wustl.edu 37 19 54515252 54515252 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_145814.1 +1 reviewed p.A198T 0.352 18 0% 37 37.8% - - benign(0.06) tolerated(0.37) neutral(0.023) NULL ENSG00000226812 0 genome.wustl.edu 37 20 42979259 42979259 + Splice_Site SNP C C G novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000438702 -1 known NULL 0.000 57 0% 43 51.2% - - - - - - RUNX1 861 genome.wustl.edu 37 21 36421376 36421376 + Splice_Site SNP A A C novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000431176 -1 known e0+2 0.993 80 1.3% 35 20% - - - - - - ENSG00000209082 0 genome.wustl.edu 37 MT 3247 3247 + RNA SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 ENST00000386347 +1 novel NULL NULL 65 0% 136 96.3% - - - - - - PRPS2 5634 genome.wustl.edu 37 X 12837722 12837722 + Silent SNP C C T novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_001039091.2 +1 reviewed p.G212 0.003 290 0% 156 38.5% - - - - - HMMPfam_Pribosyltran,superfamily_SSF53271 ZNF449 203523 genome.wustl.edu 37 X 134481132 134481132 + Missense_Mutation SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_152695.5 +1 reviewed p.R30H 0.964 163 0% 117 47.9% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_SCAN,HMMSmart_SM00431 L1CAM 3897 genome.wustl.edu 37 X 153131222 153131222 + Silent SNP G G A novel TCGA-A5-A0GV-01A-31W-A062-09 TCGA-A5-A0GV-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3d1d3497-f9f5-4922-bed9-684d90c3b571 83b4dd11-c28c-429a-97e4-6add256dd278 NM_000425.3 -1 reviewed p.A828 0.000 68 0% 36 22.2% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III