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 AGBL4 84871 genome.wustl.edu 37 1 49100185 49100185 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_032785.3 -1 validated p.V311I 0.936 15 0% 27 25.9% 0 - benign(0.301) tolerated(0.74) neutral(0.095) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases MIER1 57708 genome.wustl.edu 37 1 67424642 67424642 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_020948.3 +1 validated p.R175C 1.000 98 0% 125 24% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL LOC729866 729866 genome.wustl.edu 37 1 157894924 157894924 + RNA SNP G G T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 XR_078238.1 -1 model NULL 0.962 19 0% 56 19.6% 0 - - - - - HEATR1 55127 genome.wustl.edu 37 1 236718653 236718653 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_018072.4 -1 validated p.G1956S 1.000 161 0% 215 20.5% 3 0% possibly_damaging(0.485) tolerated(0.58) neutral(0.166) HMMPfam_BP28CT,superfamily_ARM-type_fold LOC400986 400986 genome.wustl.edu 37 2 96587399 96587399 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 XM_001717763.2 -1 model p.S419L 0.001 39 0% 46 15.2% 0 - benign(0.003) tolerated(0.07) neutral(0.319) NULL KBTBD10 10324 genome.wustl.edu 37 2 170366462 170366462 + Missense_Mutation SNP C C G novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_006063.2 +1 validated p.F58L 1.000 134 0% 178 17.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001098209.1 +1 reviewed p.D32Y 1.000 52 0% 75 28% 50 52% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM55C 91775 genome.wustl.edu 37 3 101520208 101520208 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001134456.1 +1 validated p.R75C 0.990 99 0% 165 23.6% 3 33.3% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Neurexophilin PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_006218.2 +1 reviewed p.E542K 1.000 50 0% 61 24.6% 0 - probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold MCF2L2 23101 genome.wustl.edu 37 3 183017868 183017868 + Silent SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_015078.2 -1 validated p.D410 0.999 68 0% 156 27.6% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat ENSG00000244385 0 genome.wustl.edu 37 3 195701310 195701311 + Splice_Site INS - - AA novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 ENST00000354937 -1 novel NULL 1.000:0.999 - - - - - - - - - - NPFFR2 10886 genome.wustl.edu 37 4 72897686 72897686 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_004885.2 +1 reviewed p.P23L 0.000 46 0% 62 22.6% 0 - benign(0) - - NULL FGF2 2247 genome.wustl.edu 37 4 123813545 123813545 + Silent SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_002006.4 +1 reviewed p.K287 1.000 168 0% 157 19.1% 0 - - - - superfamily_Cytokine DNAH5 1767 genome.wustl.edu 37 5 13786382 13786382 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001369.2 -1 reviewed p.R2909H 1.000 86 0% 97 17.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF52540 PCDHGA7 56108 genome.wustl.edu 37 5 140762901 140762901 + Silent SNP T T C novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_018920.2 +1 reviewed p.N145 0.000 40 0% 61 11.5% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like TIGD6 81789 genome.wustl.edu 37 5 149374585 149374585 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_030953.2 -1 validated p.E443K 0.000 103 0% 152 11.2% 12 8.3% benign(0.005) tolerated(0.15) neutral(0.241) NULL GMPR 2766 genome.wustl.edu 37 6 16279071 16279071 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_006877.3 +1 reviewed p.V202I 1.000 38 0% 103 24.3% 105 56.1% possibly_damaging(0.758) tolerated(0.32) neutral(0.305) HMMPfam_IMPDH,superfamily_SSF51412 GTPBP2 54676 genome.wustl.edu 37 6 43594046 43594046 + Silent SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 ENST00000442748 -1 known p.G71E 0.976 47 0% 112 18.8% 13 38.4% - - - NULL CADPS2 93664 genome.wustl.edu 37 7 121965602 121965602 + Missense_Mutation SNP C C A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_017954.10 -1 reviewed p.V1216L 0.786 21 0% 36 30.6% 7 28.5% benign(0) tolerated(0.1) neutral(0.286) NULL TAS2R38 5726 genome.wustl.edu 37 7 141672576 141672576 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_176817.4 -1 reviewed p.R305K 0.510 70 0% 109 21.1% 0 - benign(0.008) tolerated(0.25) neutral(0.037) HMMPfam_TAS2R,superfamily_SSF81321 GLI4 2738 genome.wustl.edu 37 8 144351652 144351652 + Frame_Shift_Del DEL A A - novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_138465.3 +1 validated p.H29fs 0.069 - - - - - - - - - NULL LURAP1L 286343 genome.wustl.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_203403.1 +1 validated p.53in_frame_insGGG 0.005:0.005 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89624273 89624275 + In_Frame_Del DEL ATC ATC - novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 ENST00000371953 +1 known p.YQEDG16in_frame_del* 1.000:1.000:1.000 - - - - - - - - - superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692971 89692971 + Missense_Mutation SNP T T G novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 ENST00000371953 +1 known p.L152R 1.000 192 0% 175 21.1% 4 25% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PITPNM1 9600 genome.wustl.edu 37 11 67266090 67266090 + Silent SNP G G A rs61749182 byCluster;byFrequency;by1000genomes TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_004910.2 -1 validated p.A487 0.917 4 0.000 17 0.647 124 56.4% - - - NULL AEBP2 121536 genome.wustl.edu 37 12 19667640 19667640 + Missense_Mutation SNP A A C novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001114176.1 +1 validated p.H468P 1.000 29 0% 49 34.7% 3 33.3% benign(0.002) tolerated(0.27) neutral(0.034) NULL THSD1 55901 genome.wustl.edu 37 13 52971586 52971586 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_018676.3 -1 reviewed p.V268I 0.013 73 0% 117 17.1% 9 11.1% possibly_damaging(0.6) tolerated(0.51) neutral(0.216) NULL GOLGA6L1 283767 genome.wustl.edu 37 15 22742777 22742777 + Missense_Mutation SNP G G A rs189734192 TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001001413.3 +1 provisional p.E388K 0.006 15 0% 13 30.8% 0 - unknown(0) tolerated(0.67) - NULL DUOX2 50506 genome.wustl.edu 37 15 45402883 45402883 + Missense_Mutation SNP G G C novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_014080.4 -1 reviewed p.P303R 1.000 4 0.000 21 0.476 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases ENSG00000248963 0 genome.wustl.edu 37 17 2210765 2210765 + RNA SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 ENST00000514273 -1 novel NULL 0.434 68 0% 75 26.7% 4 25% - - - - KDM6B 23135 genome.wustl.edu 37 17 7750177 7750178 + In_Frame_Ins INS - - ACCACC novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001080424.1 +1 provisional p.255in_frame_insPP 0.470:0.528 - - - - - - - - - NULL FADS6 283985 genome.wustl.edu 37 17 72889678 72889679 + In_Frame_Ins INS - - CTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTCGGTTCCATCGG novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_178128.3 -1 validated p.9in_frame_insTEPMEPTEPMEPTEPMEP 0.009:0.007 - - - - - - - - - NULL CYP2B7P1 1556 genome.wustl.edu 37 19 41447350 41447350 + RNA SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NR_001278.1 +1 provisional NULL 0.137 320 0% 535 15.5% 0 - - - - - ZNF229 7772 genome.wustl.edu 37 19 44933503 44933503 + Missense_Mutation SNP C C T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_014518.2 -1 validated p.G485S 0.166 104 0% 172 41.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_C2H2 and C2HC zinc fingers OPRL1 4987 genome.wustl.edu 37 20 62729276 62729276 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_000913.3 +1 reviewed p.G119R 1.000 18 0% 45 15.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like U2AF1 7307 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001025203.1 -1 reviewed p.S34F 1.000 33 0% 70 15.7% 291 37.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 IGLV3-21 28796 genome.wustl.edu 37 22 23055583 23055583 + Silent SNP C C A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 ENST00000390308 +1 known p.G82 0.992 18 0% 66 15.2% 2 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SGSM1 129049 genome.wustl.edu 37 22 25294512 25294512 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_001039948.2 +1 validated p.G921S 0.996 100 0% 191 21.5% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p FAM9B 171483 genome.wustl.edu 37 X 9001023 9001023 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_205849.2 -1 validated p.A2V 0.017 31 0% 81 11.1% 0 - possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL POLA1 5422 genome.wustl.edu 37 X 24828015 24828015 + Missense_Mutation SNP A A G novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_016937.3 +1 reviewed p.I983V 1.000 62 0% 75 16% 0 - benign(0.194) tolerated(0.05) neutral(0.363) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 MED12 9968 genome.wustl.edu 37 X 70352742 70352742 + Missense_Mutation SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_005120.2 +1 reviewed p.C1488Y 1.000 23 0% 38 21.1% 35 74.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL COL4A5 1287 genome.wustl.edu 37 X 107858229 107858229 + Silent SNP G G A novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_033380.1 +1 reviewed p.G828 0.122 70 0% 106 24.5% 13 0% - - - HMMPfam_Collagen IDS 3423 genome.wustl.edu 37 X 148586605 148586605 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GX-01A-11W-A062-09 TCGA-A5-A0GX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b4bbf376-b599-4fd5-849d-7dd8d4803fa6 2e3965b6-dd61-4fa9-8e74-f55a00c9b4b0 NM_000202.5 -1 reviewed p.C21* 0.000 30 0% 70 21.4% 11 0% - - - NULL