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 27099947 27099947 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_006015.4 +1 reviewed p.R1276* 1.000 111 0% 116 64.7% 11 45.4% - - - NULL TESK2 10420 genome.wustl.edu 37 1 45810620 45810620 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_007170.2 -1 reviewed p.A536 0.000 177 0.6% 176 26.1% 4 0% - - - NULL CR2 1380 genome.wustl.edu 37 1 207651364 207651364 + Missense_Mutation SNP C C A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001006658.2 +1 reviewed p.Q1013K 1.000 234 0.4% 270 26.7% 4 50% benign(0.19) tolerated(0.17) neutral(0.077) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module RCOR3 55758 genome.wustl.edu 37 1 211486784 211486784 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001136223.1 +1 validated p.P446S 0.998 379 0% 459 28.3% 6 50% benign(0.001) deleterious(0) neutral(0.445) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232601076 232601076 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_020808.3 -1 validated p.R777Q 1.000 71 0% 122 30.3% 7 57.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) PRKCE 5581 genome.wustl.edu 37 2 46234657 46234657 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_005400.2 +1 reviewed p.E374K 1.000 74 0% 89 23.6% 7 57.1% benign(0) tolerated(0.44) neutral(0.013) NULL LMAN2L 81562 genome.wustl.edu 37 2 97377602 97377602 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001142292.1 -1 validated p.T234M 1.000 78 0% 90 28.9% 42 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl MBD5 55777 genome.wustl.edu 37 2 149226743 149226743 + Missense_Mutation SNP A A G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_018328.4 +1 reviewed p.T411A 1.000 157 0% 192 29.2% 4 75% probably_damaging(0.984) tolerated(0.07) deleterious(0.750) NULL NFE2L2 4780 genome.wustl.edu 37 2 178098918 178098918 + Missense_Mutation SNP G G C rs182428269 by1000genomes TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_006164.3 -1 validated p.R43G 1.000 277 0% 322 30.1% 59 38.9% unknown(0) deleterious(0.01) - NULL CASR 846 genome.wustl.edu 37 3 121980530 121980530 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_000388.3 +1 reviewed p.D216 0.993 216 0% 238 23.9% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I PIK3CA 5290 genome.wustl.edu 37 3 178916917 178916919 + In_Frame_Del DEL ATT ATT - novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_006218.2 +1 reviewed p.I102in_frame_del 1.000:1.000:0.996 - - - - - - - - - HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B CCKAR 886 genome.wustl.edu 37 4 26483547 26483547 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_000730.2 -1 reviewed p.A334T 1.000 282 0% 310 21.9% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like WDFY3 23001 genome.wustl.edu 37 4 85658480 85658480 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_014991.4 -1 reviewed p.T2205I 1.000 252 0% 235 29.8% 7 42.8% benign(0.001) deleterious(0.03) neutral(0.364) NULL FREM3 166752 genome.wustl.edu 37 4 144620080 144620080 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 ENST00000329798 -1 known p.L583 0.951 119 0% 115 28.7% 0 - - - - NULL RFESD 317671 genome.wustl.edu 37 5 94989941 94989941 + Splice_Site SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001131065.1 +1 validated e3+1 1.000 235 0.4% 263 27.4% 0 - - - - - PSD2 84249 genome.wustl.edu 37 5 139201585 139201585 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_032289.2 +1 provisional p.S402L 0.980 99 0% 118 29.7% 1 0% benign(0.109) deleterious(0) neutral(0.453) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain SOX30 11063 genome.wustl.edu 37 5 157078220 157078220 + Silent SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_178424.1 -1 reviewed p.V289 0.998 141 0% 154 31.8% 0 - - - - NULL UNC5A 90249 genome.wustl.edu 37 5 176305474 176305474 + Splice_Site SNP A A G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_133369.2 +1 validated e13-2 1.000 79 0% 83 24.1% 0 - - - - - ELOVL2 54898 genome.wustl.edu 37 6 10990626 10990626 + Silent SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_017770.3 -1 validated p.S185 0.940 156 0.6% 172 29.7% 0 - - - - HMMPfam_ELO GRM4 2914 genome.wustl.edu 37 6 34004089 34004089 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_000841.1 -1 reviewed p.A600T 0.966 41 0% 64 20.3% 0 - benign(0.023) tolerated(0.14) neutral(0.251) HMMPfam_7tm_3 ECT2L 345930 genome.wustl.edu 37 6 139210147 139210150 + Frame_Shift_Del DEL AAGA AAGA - novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001077706.1 +1 validated p.E799fs 1.000:0.997:0.952:0.724 - - - - - - - - - superfamily_SSF50729 INTS1 26173 genome.wustl.edu 37 7 1520024 1520024 + Missense_Mutation SNP C C G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001080453.2 -1 validated p.G1335R 1.000 161 0% 186 29.6% 44 34% possibly_damaging(0.625) tolerated(0.35) neutral(0.238) NULL BRAT1 221927 genome.wustl.edu 37 7 2584590 2584590 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_152743.2 -1 provisional p.R128H 0.413 22 0% 22 40.9% 52 32.6% benign(0.002) tolerated(0.59) neutral(0.004) superfamily_ARM repeat SEMA3C 10512 genome.wustl.edu 37 7 80427428 80427428 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_006379.2 -1 validated p.P371S 1.000 63 0% 95 24.2% 15 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema TAF6 6878 genome.wustl.edu 37 7 99709599 99709599 + Silent SNP C C A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_005641.2 -1 reviewed p.T248 0.098 102 0% 126 37.3% 77 37.6% - - - NULL ARHGEF10 9639 genome.wustl.edu 37 8 1877480 1877480 + Missense_Mutation SNP T T A rs17683288 byCluster;byFrequency;by1000genomes TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_014629.2 +1 reviewed p.S984T 1.000 49 0% 82 45.1% 4 50% benign(0.008) tolerated(0.65) neutral(0.003) superfamily_WD40_like ATP6V1H 51606 genome.wustl.edu 37 8 54708309 54708309 + Missense_Mutation SNP C C G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_015941.2 -1 reviewed p.M256I 1.000 98 0% 92 28.3% 44 38.6% benign(0) tolerated(0.96) - HMMPfam_V-ATPase_H,superfamily_ARM repeat HNF4G 3174 genome.wustl.edu 37 8 76471108 76471108 + Missense_Mutation SNP A A G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_004133.4 +1 validated p.Y310C 1.000 200 0% 193 53.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor ESRP1 54845 genome.wustl.edu 37 8 95676982 95676982 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_017697.3 +1 validated p.W234* 1.000 290 0% 344 56.4% 4 50% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD IFNA13 3447 genome.wustl.edu 37 9 21367853 21367853 + Missense_Mutation SNP A A T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_006900.3 -1 validated p.C53S 0.003 330 0% 360 13.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Interferon,superfamily_4-helical cytokines PHF2 5253 genome.wustl.edu 37 9 96428110 96428110 + Missense_Mutation SNP A A T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_005392.3 +1 reviewed p.R694W 1.000 95 0% 98 32.7% 10 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FUT11 170384 genome.wustl.edu 37 10 75532984 75532987 + Frame_Shift_Del DEL CTGC CTGC - novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 CTGC CTGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_173540.2 +1 validated p.T251fs 1.000:1.000:0.991:1.000 - - - - - - - - - HMMPfam_Glyco_transf_10 PTEN 5728 genome.wustl.edu 37 10 89685312 89685313 + Frame_Shift_Del DEL TC TC - novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 ENST00000371953 +1 known p.A72fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692883 89692883 + Missense_Mutation SNP C C G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 ENST00000371953 +1 known p.H123D 1.000 374 0% 433 31.4% 38 55.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129901654 129901654 + Frame_Shift_Del DEL T T - novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_002417.4 -1 reviewed p.D2817fs 0.000 - - - - - - - - - NULL IGF2 3481 genome.wustl.edu 37 11 2161482 2161482 + Silent SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001127598.1 -1 reviewed p.T15 0.037 53 0% 61 24.6% 0 - - - - NULL ST5 6764 genome.wustl.edu 37 11 8734139 8734139 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_005418.3 -1 reviewed p.R711* 1.000 177 0% 199 28.1% 33 3% - - - HMMPfam_uDENN,HMMSmart_SM00800 PTH 5741 genome.wustl.edu 37 11 13514070 13514070 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_000315.2 -1 reviewed p.A77V 0.001 212 0% 257 38.5% 0 - benign(0.013) deleterious(0.01) neutral(0.406) HMMPfam_Parathyroid CHD4 1108 genome.wustl.edu 37 12 6691814 6691814 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001273.2 -1 reviewed p.R1446K 1.000 100 0% 131 28.2% 101 34.6% benign(0.059) deleterious(0.03) neutral(0.368) HMMPfam_DUF1086 PZP 5858 genome.wustl.edu 37 12 9345291 9345291 + Silent SNP T T A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_002864.2 -1 validated p.V433 0.000 135 0% 152 29.6% 0 - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81719572 81719572 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_003625.2 -1 reviewed p.R876* 0.289 318 0% 303 22.4% 0 - - - - NULL POLR3B 55703 genome.wustl.edu 37 12 106848415 106848415 + Missense_Mutation SNP C C G novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_018082.5 +1 validated p.T740R 0.999 232 0% 246 26% 3 33.3% possibly_damaging(0.771) deleterious(0.01) deleterious(0.692) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase RBM26 64062 genome.wustl.edu 37 13 79911350 79911350 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_022118.3 -1 validated p.R847* 0.956 169 0% 228 32.9% 25 12% - - - superfamily_SSF54928 ZFYVE1 53349 genome.wustl.edu 37 14 73441497 73441497 + Silent SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_021260.1 -1 reviewed p.N659 0.056 134 0% 114 28.9% 25 48% - - - HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger C14orf49 161176 genome.wustl.edu 37 14 95916409 95916409 + Silent SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_152592.3 -1 validated p.A436 0.000 41 0% 49 22.4% 0 - - - - superfamily_Spectrin repeat RTL1 388015 genome.wustl.edu 37 14 101349698 101349698 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001134888.2 -1 reviewed p.T476 0.260 59 0% 66 39.4% 0 - - - - superfamily_Acid proteases LOC100288273 100288273 genome.wustl.edu 37 14 106320630 106320630 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 XM_002343262.1 +1 model p.A4V 0.000 119 0% 125 25.6% 400 0% benign(0.002) tolerated(0.46) neutral(0.012) NULL LOC100289059 100289059 genome.wustl.edu 37 15 25414719 25414719 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 XM_002343317.1 -1 model p.S138 0.000 44 0% 58 43.1% 0 - - - - NULL PIAS1 8554 genome.wustl.edu 37 15 68378839 68378839 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_016166.1 +1 reviewed p.D74N 1.000 211 0% 235 27.7% 16 43.7% benign(0.019) tolerated(0.3) neutral(0.030) NULL SPSB3 90864 genome.wustl.edu 37 16 1828578 1828578 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_080861.3 -1 validated p.T54 0.785 61 0% 70 22.9% 76 50% - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2808540 2808540 + Silent SNP T T C novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_016333.3 +1 validated p.D195 0.978 181 0% 220 28.6% 17 52.9% - - - NULL PDILT 204474 genome.wustl.edu 37 16 20396149 20396149 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_174924.1 -1 provisional p.R76K 0.586 404 0% 455 26.8% 0 - possibly_damaging(0.746) tolerated(1) neutral(0.274) superfamily_Thiordxn-like_fd IRX6 79190 genome.wustl.edu 37 16 55363171 55363171 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_024335.2 +1 validated p.C427 1.000 23 0% 26 26.9% 8 62.5% - - - NULL MBTPS1 8720 genome.wustl.edu 37 16 84100137 84100137 + Silent SNP G G A rs190946033 by1000genomes TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_003791.2 -1 reviewed p.S770 0.958 112 0% 130 24.6% 152 50% - - - NULL WSCD1 23302 genome.wustl.edu 37 17 6023780 6023780 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_015253.1 +1 validated p.N509 0.928 66 0% 95 31.6% 0 - - - - superfamily_SSF52540 MPRIP 23164 genome.wustl.edu 37 17 17053495 17053495 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_015134.2 +1 validated p.C438Y 1.000 97 0% 125 30.4% 33 33.3% possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MPP2 4355 genome.wustl.edu 37 17 41958179 41958179 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_005374.3 -1 reviewed p.R344C 1.000 95 0% 101 21.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases DHX40 79665 genome.wustl.edu 37 17 57682855 57682855 + Silent SNP T T C novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_024612.4 +1 reviewed p.L674 0.901 261 0% 293 18.4% 82 37.8% - - - HMMPfam_DUF1605 AFMID 125061 genome.wustl.edu 37 17 76201691 76201691 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001145526.1 +1 validated p.A218T 1.000 80 0% 108 25.9% 4 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_alpha/beta-Hydrolases NOL4 8715 genome.wustl.edu 37 18 31432971 31432971 + Silent SNP T T C novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_003787.3 -1 validated p.Q584 0.992 211 0% 298 30.2% 0 - - - - NULL CYP2A13 1553 genome.wustl.edu 37 19 41599635 41599635 + Missense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_000766.3 +1 reviewed p.R311H 0.968 158 0% 174 25.9% 0 - benign(0.163) deleterious(0.02) neutral(0.398) HMMPfam_p450,superfamily_Cytochrome_P450 FOXA3 3171 genome.wustl.edu 37 19 46376055 46376055 + Silent SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_004497.2 +1 reviewed p.G264 0.224 49 0% 41 36.6% 1 0% - - - NULL TMEM143 55260 genome.wustl.edu 37 19 48846684 48846684 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_018273.2 -1 provisional p.V197I 0.439 42 0% 41 24.4% 5 20% benign(0.004) tolerated(0.21) neutral(0.044) NULL CTSZ 1522 genome.wustl.edu 37 20 57581482 57581482 + Missense_Mutation SNP A A T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001336.3 -1 reviewed p.W68R 1.000 58 0% 73 26% 395 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases TIAM1 7074 genome.wustl.edu 37 21 32502549 32502549 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_003253.2 -1 validated p.R1343* 1.000 116 0% 107 30.8% 6 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ENSG00000210082 0 genome.wustl.edu 37 MT 2593 2593 + RNA SNP G G A novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 ENST00000387347 +1 known NULL NULL 82 0% 117 24.8% 5293 22.6% - - - - XK 7504 genome.wustl.edu 37 X 37587534 37587534 + Missense_Mutation SNP C C T novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_021083.2 +1 reviewed p.S385F 0.953 255 0% 233 27% 0 - possibly_damaging(0.51) tolerated(0.1) neutral(0.458) NULL BCOR 54880 genome.wustl.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001123385.1 -1 reviewed p.N1459S 1.000 149 0% 217 24.9% 26 80.7% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Ankyrin repeat PGK1 5230 genome.wustl.edu 37 X 77380399 77380399 + Missense_Mutation SNP A A C novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_000291.3 +1 reviewed p.K322T 1.000 358 0% 398 27.9% 986 0% benign(0.008) deleterious(0.01) neutral(0.406) HMMPfam_PGK,superfamily_Phosphoglycerate kinase LAMP2 3920 genome.wustl.edu 37 X 119581762 119581762 + Silent SNP A A C novel TCGA-D1-A16E-01A-22D-A12J-09 TCGA-D1-A16E-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64741324-fa25-4b36-9a4d-d544f5ec84bd 3227cc94-60c5-47b9-982c-e01f310ff840 NM_001122606.1 -1 reviewed p.V225 0.000 431 0.2% 503 24.7% 147 0% - - - HMMPfam_Lamp