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 CROCC 9696 genome.wustl.edu 37 1 17257042 17257042 + Missense_Mutation SNP C C G novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_014675.3 +1 validated p.R268G 1.000 17 0% 22 31.8% - - unknown(0) tolerated(0.25) - NULL USP24 23358 genome.wustl.edu 37 1 55563319 55563319 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_015306.2 -1 validated p.G1729 1.000 70 0% 51 27.5% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases MR1 3140 genome.wustl.edu 37 1 181021484 181021484 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001531.1 +1 provisional p.G240R 1.000 94 0% 141 24.8% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin LHX9 56956 genome.wustl.edu 37 1 197890500 197890500 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_020204.2 +1 reviewed p.R148 0.742 52 0% 34 20.6% - - - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ASTL 431705 genome.wustl.edu 37 2 96798452 96798452 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001002036.3 -1 validated p.S155L 1.000 13 0% 14 50% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) "HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" TTN 7273 genome.wustl.edu 37 2 179489418 179489418 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000356127 -1 known p.T12295 1.000 57 0% 50 40% - - - - - HMMSmart_SM00409,HMMPfam_I-set TTC21A 199223 genome.wustl.edu 37 3 39178397 39178397 + Missense_Mutation SNP G G C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001105513.2 +1 validated p.G1043R 0.957 79 0% 67 28.4% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_TPR-like CTNNB1 1499 genome.wustl.edu 37 3 41266103 41266103 + Missense_Mutation SNP G G A rs121913399 TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001098209.1 +1 reviewed p.G34R 1.000 87 0% 44 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BSN 8927 genome.wustl.edu 37 3 49662655 49662655 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_003458.3 +1 reviewed p.V158I 1.000 125 0% 105 31.4% - - probably_damaging(0.971) - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178936093 178936093 + Missense_Mutation SNP G G T rs121913275 TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_006218.2 +1 reviewed p.E545D 1.000 101 0% 71 42.3% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold EPHA5 2044 genome.wustl.edu 37 4 66230818 66230818 + Missense_Mutation SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_004439.5 -1 reviewed p.R718H 1.000 232 0% 106 43.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PCDHA6 56142 genome.wustl.edu 37 5 140209296 140209296 + Silent SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_018909.2 +1 reviewed p.A540 0.996 66 0% 112 41.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TNIP1 10318 genome.wustl.edu 37 5 150416376 150416376 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_006058.3 -1 validated p.T457M 0.998 105 0% 101 27.7% - - benign(0.013) tolerated(0.14) neutral(0.250) NULL SGK1 6446 genome.wustl.edu 37 6 134491995 134491997 + In_Frame_Del DEL TTA TTA - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 TTA TTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001143676.1 -1 reviewed p.N460in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_S_TK_X,superfamily_Kinase_like SASH1 23328 genome.wustl.edu 37 6 148808754 148808756 + In_Frame_Del DEL AGG AGG - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_015278.3 +1 validated p.E212in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ABHD11 83451 genome.wustl.edu 37 7 73150872 73150872 + RNA SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NR_026910.1 -1 validated NULL 0.008 68 0% 108 31.5% - - - - - - TNKS 8658 genome.wustl.edu 37 8 9622273 9622273 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_003747.2 +1 validated p.G1140 1.000 159 0% 132 25.8% - - - - - HMMPfam_PARP,superfamily_ADP-ribosylation C8orf74 203076 genome.wustl.edu 37 8 10532329 10532331 + In_Frame_Del DEL GCT GCT - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001040032.1 +1 validated p.L76in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PCM1 5108 genome.wustl.edu 37 8 17867106 17867108 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_006197.3 +1 validated p.L1673in_frame_del 0.996:1.000:1.000 - - - - - - - - - NULL CHMP4C 92421 genome.wustl.edu 37 8 82644956 82644956 + Missense_Mutation SNP C C A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_152284.3 +1 validated p.T32N 1.000 27 0% 58 24.1% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Snf7 UBR5 51366 genome.wustl.edu 37 8 103307677 103307678 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_015902.4 -1 reviewed p.R1299fs 1.000:0.982 - - - - - - - - - NULL OR13C5 138799 genome.wustl.edu 37 9 107361094 107361094 + Missense_Mutation SNP C C A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001004482.1 -1 provisional p.V201L 0.003 130 0% 95 35.8% - - possibly_damaging(0.866) tolerated(0.06) deleterious(0.658) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CAMSAP1 157922 genome.wustl.edu 37 9 138774890 138774890 + Silent SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_015447.3 -1 validated p.Y65 0.989 79 0% 82 40.2% - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C C T rs121909231 byCluster TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000371953 +1 known p.R335* 1.000 52 0% 28 75% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ENSG00000219061 0 genome.wustl.edu 37 11 49860150 49860150 + Missense_Mutation SNP A A C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000405176 -1 known p.L149V 0.006 73 0% 41 43.9% - - - - - NULL OR9I1 219954 genome.wustl.edu 37 11 57886603 57886603 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001005211.1 -1 validated p.T105I 0.951 135 0% 65 40% - - probably_damaging(1) tolerated(0.58) deleterious(0.505) HMMPfam_7tm_1,superfamily_SSF81321 SLC22A6 9356 genome.wustl.edu 37 11 62744336 62744336 + Missense_Mutation SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_004790.3 -1 reviewed p.R541Q 0.000 176 0% 136 36.8% - - benign(0) tolerated(0.27) neutral(0.034) NULL LOC390251 390251 genome.wustl.edu 37 11 113660246 113660246 + RNA SNP G G T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da XR_016610.3 +1 model NULL 1.000 34 0% 44 43.2% - - - - - - TEAD4 7004 genome.wustl.edu 37 12 3147205 3147205 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_003213.2 +1 reviewed p.P323 0.016 50 0% 62 29% - - - - - HMMPfam_TEA DAO 1610 genome.wustl.edu 37 12 109292545 109292545 + Silent SNP C C A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001917.4 +1 reviewed p.G262 1.000 110 0% 113 32.7% - - - - - HMMPfam_DAO,superfamily_Nucleotide-binding domain,superfamily_FAD-linked reductases C-terminal domain ACADS 35 genome.wustl.edu 37 12 121176677 121176677 + Missense_Mutation SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_000017.2 +1 reviewed p.R330C 1.000 31 0% 36 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like FOXN3 1112 genome.wustl.edu 37 14 89878374 89878374 + Silent SNP C C T rs183597395 by1000genomes TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001085471.1 -1 reviewed p.P149 0.877 61 0% 96 31.2% - - - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" OR4N4 283694 genome.wustl.edu 37 15 22382966 22382966 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001005241.1 +1 provisional p.R165H 0.058 162 0.6% 191 30.4% - - benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_7tm_1,superfamily_SSF81321 MEIS2 4212 genome.wustl.edu 37 15 37390260 37390260 + Silent SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_170675.2 -1 reviewed p.Y51 1.000 25 0% 62 30.6% - - - - - NULL MYO9A 4649 genome.wustl.edu 37 15 72338362 72338362 + Missense_Mutation SNP A A C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_006901.2 -1 validated p.S181R 1.000 76 0% 89 24.7% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NTHL1 4913 genome.wustl.edu 37 16 2097781 2097781 + Missense_Mutation SNP A A G novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_002528.5 -1 reviewed p.L23P 0.569 5 0.000 9 0.556 - - benign(0.007) tolerated(0.14) neutral(0.249) NULL RBFOX1 54715 genome.wustl.edu 37 16 7568201 7568201 + Missense_Mutation SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_145891.2 +1 reviewed p.S47L 1.000 92 0% 89 28.1% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL ZP2 7783 genome.wustl.edu 37 16 21213582 21213582 + Missense_Mutation SNP A A G novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_003460.1 -1 reviewed p.F377S 0.997 96 0% 113 19.5% - - probably_damaging(0.997) tolerated(0.12) deleterious(0.727) HMMPfam_Zona_pellucida,HMMSmart_SM00241 CLEC3A 10143 genome.wustl.edu 37 16 78064698 78064698 + Missense_Mutation SNP G G T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_005752.3 +1 validated p.S185I 0.438 64 0% 39 38.5% - - benign(0.281) tolerated(0.17) neutral(0.145) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1 KIAA0753 9851 genome.wustl.edu 37 17 6538422 6538424 + In_Frame_Del DEL ATA ATA - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_014804.2 -1 validated p.MGPG1in_frame_delGTR 0.979:0.908 - - - - - - - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11666855 11666855 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001372.3 +1 reviewed p.C2365Y 1.000 86 0% 84 34.5% - - possibly_damaging(0.92) tolerated(0.44) neutral(0.384) NULL KRT17P1 147228 genome.wustl.edu 37 17 16748911 16748913 + In_Frame_Del DEL GCT GCT - rs59754524 TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000399211 -1 known p.S73in_frame_del 0.992:0.992:0.992 - - - - - - - - - NULL RHOT1 55288 genome.wustl.edu 37 17 30538195 30538195 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001033568.1 +1 validated p.N632 1.000 115 0% 81 34.6% - - - - - NULL PSMD11 5717 genome.wustl.edu 37 17 30804557 30804557 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_002815.2 +1 reviewed p.V290M 1.000 201 0% 192 35.4% - - possibly_damaging(0.515) deleterious(0) deleterious(0.618) HMMPfam_PCI,HMMSmart_SM00753,superfamily_TPR-like LOXHD1 125336 genome.wustl.edu 37 18 44184141 44184141 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000441551 -1 known p.P251L 1.000 165 0% 75 34.7% - - unknown(0) deleterious(0.01) - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) ENSG00000207357 0 genome.wustl.edu 37 19 1021621 1021621 + RNA SNP T T C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000384627 +1 known NULL 1.000 35 0% 711 37.7% - - - - - - MLLT1 4298 genome.wustl.edu 37 19 6230656 6230656 + Missense_Mutation SNP G G C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_005934.3 -1 validated p.N115K 1.000 81 0% 109 34.9% - - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL ZNF558 148156 genome.wustl.edu 37 19 8922212 8922212 + Silent SNP T T C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_144693.1 -1 provisional p.K318 0.954 123 0% 91 35.2% - - - - - superfamily_C2H2 and C2HC zinc fingers LOC55908 55908 genome.wustl.edu 37 19 11350951 11350951 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_018687.6 +1 validated p.Y199 0.000 22 0% 30 33.3% - - - - - NULL ZNF536 9745 genome.wustl.edu 37 19 30934973 30934973 + Silent SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_014717.1 +1 provisional p.A168 1.000 13 0% 18 33.3% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PPP2R1A 5518 genome.wustl.edu 37 19 52714556 52714556 + Missense_Mutation SNP G G A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_014225.5 +1 reviewed p.R105Q 1.000 35 0% 32 53.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HEAT,superfamily_ARM repeat SIGLEC1 6614 genome.wustl.edu 37 20 3677408 3677408 + Silent SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_023068.3 -1 reviewed p.L836 1.000 22 0% 51 29.4% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin ADRM1 11047 genome.wustl.edu 37 20 60881718 60881718 + Missense_Mutation SNP C C A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_007002.2 +1 reviewed p.Q157K 1.000 13 0% 48 25% - - unknown(0) deleterious(0.01) - HMMPfam_ARM_1 ENSG00000210082 0 genome.wustl.edu 37 MT 3107 3107 + RNA DEL A A - novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da ENST00000387347 +1 known NULL NULL - - - - - - - - - - RAB41 347517 genome.wustl.edu 37 X 69502149 69502149 + Missense_Mutation SNP T T C novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001032726.2 +1 reviewed p.S28P 0.052 175 0% 239 19.7% - - benign(0.001) tolerated(0.59) neutral(0.004) superfamily_P-loop containing nucleoside triphosphate hydrolases BTK 695 genome.wustl.edu 37 X 100624986 100624986 + Missense_Mutation SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_000061.2 -1 reviewed p.V131I 0.991 141 0% 214 29% - - unknown(0) tolerated(0.26) - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 COL4A5 1287 genome.wustl.edu 37 X 107858225 107858225 + Missense_Mutation SNP C C A novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_033380.1 +1 reviewed p.P827Q 1.000 75 0% 65 21.5% - - unknown(0) tolerated(0.59) - HMMPfam_Collagen PHF6 84295 genome.wustl.edu 37 X 133547669 133547669 + Missense_Mutation SNP A A T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_001015877.1 +1 reviewed p.E189D 1.000 82 0% 124 28.2% - - benign(0) tolerated(0.25) neutral(0.037) NULL GABRA3 2556 genome.wustl.edu 37 X 151514097 151514097 + Missense_Mutation SNP C C T novel TCGA-D1-A102-01A-11D-A10M-09 TCGA-D1-A102-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba558e51-cbb7-4aa6-90ea-940b826db346 2acdae75-8634-4873-a3a9-415cac0711da NM_000808.3 -1 reviewed p.R73H 1.000 123 0% 135 54.1% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD