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 UBR4 23352 genome.wustl.edu 37 1 19415445 19415445 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020765.2 -1 validated p.P4746 0.949 52 0% 31 74.2% 23 73.9% - - - superfamily_ARM repeat GNL2 29889 genome.wustl.edu 37 1 38041275 38041275 + Missense_Mutation SNP C C A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_013285.2 -1 validated p.R355L 1.000 180 0% 279 18.3% 34 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases SZT2 23334 genome.wustl.edu 37 1 43902924 43902924 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_015284.2 +1 predicted p.D1140 0.959 225 0.4% 312 20.8% 23 21.7% - - - NULL ADORA3 140 genome.wustl.edu 37 1 112045872 112045872 + Silent SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020683.6 -1 reviewed p.C35 1.000 132 0% 120 26.7% 5 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 PDE4DIP 9659 genome.wustl.edu 37 1 144857694 144857694 + Silent SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_014644.4 -1 validated p.G2120 0.975 453 0% 448 13.2% 1 0% unknown(0) - - NULL NOTCH2NL 388677 genome.wustl.edu 37 1 145281658 145281658 + Silent SNP C C A rs67153225 TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_203458.3 +1 validated p.T196 1.000 337 0% 306 11.8% 183 3.8% - - - HMMSmart_SM00181,superfamily_EGF/Laminin FMO5 2330 genome.wustl.edu 37 1 146658804 146658804 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001461.2 -1 reviewed p.H426R 1.000 90 0% 119 38.7% 0 - benign(0.12) tolerated(0.31) neutral(0.036) HMMPfam_FMO-like OR6N2 81442 genome.wustl.edu 37 1 158746588 158746588 + Missense_Mutation SNP C C T rs186539843 by1000genomes TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001005278.1 -1 provisional p.V280I 0.998 222 0% 285 39.6% 0 - possibly_damaging(0.947) tolerated(0.1) deleterious(0.677) HMMPfam_7tm_1,superfamily_SSF81321 XPR1 9213 genome.wustl.edu 37 1 180849412 180849412 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_004736.3 +1 validated p.R670H 1.000 221 0% 277 41.9% 196 54% benign(0.002) tolerated(0.1) neutral(0.286) NULL ENSG00000207472 0 genome.wustl.edu 37 1 182951421 182951422 + RNA INS - - A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000384741 -1 novel NULL 0.102:0.108 - - - - - - - - - - KIF14 9928 genome.wustl.edu 37 1 200587334 200587334 + Missense_Mutation SNP G G C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_014875.2 -1 validated p.S173C 0.000 175 0% 236 40.3% 2 0% benign(0.11) deleterious(0) neutral(0.453) NULL SYT2 127833 genome.wustl.edu 37 1 202574721 202574721 + Splice_Site SNP A A T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001136504.1 -1 validated e1+2 1.000 147 0% 156 22.4% 0 - - - - - USH2A 7399 genome.wustl.edu 37 1 215853681 215853681 + Missense_Mutation SNP G G C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_206933.2 -1 reviewed p.P4035R 1.000 227 0% 236 41.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ENAH 55740 genome.wustl.edu 37 1 225707077 225707077 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001008493.1 -1 validated p.R209C 0.998 284 0% 280 23.9% 38 39.4% unknown(0) deleterious(0.01) - NULL KIAA1383 54627 genome.wustl.edu 37 1 232941441 232941441 + Silent SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_019090.2 +1 validated p.P224 0.000 16 0% 13 46.2% 0 - - - - NULL ZNF496 84838 genome.wustl.edu 37 1 247463987 247463987 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_032752.1 -1 provisional p.R533Q 0.934 61 0% 74 23% 69 50.7% probably_damaging(0.992) tolerated(0.15) deleterious(0.689) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR2M7 391196 genome.wustl.edu 37 1 248487037 248487037 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001004691.1 -1 provisional p.Y278* 0.811 228 0% 307 31.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 HPCAL1 3241 genome.wustl.edu 37 2 10559978 10559978 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_002149.2 +1 reviewed p.K32R 1.000 73 0% 111 24.3% 122 35.2% benign(0) tolerated(0.18) neutral(0.056) superfamily_EF-hand ADCY3 109 genome.wustl.edu 37 2 25062800 25062800 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_004036.3 -1 reviewed p.D433N 1.000 94 0% 91 24.2% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 SOCS5 9655 genome.wustl.edu 37 2 46986362 46986362 + Silent SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_014011.4 +1 reviewed p.H231 1.000 48 0% 92 29.3% 2 50% - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98253113 98253113 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 XM_001714896.2 -1 model p.E380K 0.116 283 0% 435 26.4% 0 - - - - NULL C1QL2 165257 genome.wustl.edu 37 2 119915425 119915425 + Missense_Mutation SNP C C G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_182528.3 -1 validated p.D141H 0.776 14 0% 23 52.2% 0 - benign(0.238) tolerated(0.1) neutral(0.310) NULL MBD5 55777 genome.wustl.edu 37 2 149227494 149227494 + Missense_Mutation SNP A A T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_018328.4 +1 reviewed p.Q661L 1.000 207 0% 208 23.6% 13 23% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL CPS1 1373 genome.wustl.edu 37 2 211540487 211540487 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001122633.1 +1 reviewed p.N1405 0.993 119 0% 122 37.7% 2 50% - - - HMMPfam_MGS,superfamily_Methylglyoxal synthase-like PER2 8864 genome.wustl.edu 37 2 239159207 239159207 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_022817.2 -1 reviewed p.Y1151C 1.000 228 0% 281 33.5% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UPK1B 7348 genome.wustl.edu 37 3 118906821 118906821 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_006952.3 +1 reviewed p.A90V 1.000 217 0% 215 27.9% 40 50% benign(0) tolerated(1) - HMMPfam_Tetraspannin COL6A5 256076 genome.wustl.edu 37 3 130187863 130187863 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000512836 +1 known p.P590L 1.000 296 0% 316 41.8% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PLSCR2 57047 genome.wustl.edu 37 3 146177698 146177698 + Silent SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000497985 -1 known p.V71 0.000 454 0% 440 25.5% 1 0% - - - NULL MME 4311 genome.wustl.edu 37 3 154884781 154884781 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000902.3 +1 reviewed p.H584R 1.000 476 0% 541 48.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) "PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" PIK3CA 5290 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_006218.2 +1 reviewed p.C420R 1.000 109 0% 182 51.6% 8 37.5% probably_damaging(0.992) tolerated(0.24) deleterious(0.485) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB NIPAL1 152519 genome.wustl.edu 37 4 48032178 48032178 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_207330.1 +1 provisional p.V119L 1.000 381 0% 440 28.6% 1 0% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_DUF803,superfamily_SSF103481 YTHDC1 91746 genome.wustl.edu 37 4 69184261 69184261 + Silent SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001031732.2 -1 validated p.G600 1.000 234 0% 222 33.3% 210 39% - - - NULL ABCG2 9429 genome.wustl.edu 37 4 89052285 89052285 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_004827.2 -1 reviewed p.T153 0.000 427 0% 460 38.9% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125592000 125592000 + Missense_Mutation SNP T T A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020337.2 -1 validated p.D811V 1.000 201 0% 194 46.9% 10 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,superfamily_ANK TIGD4 201798 genome.wustl.edu 37 4 153691274 153691274 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_145720.2 -1 reviewed p.E295* 1.000 170 0% 197 26.9% 0 - - - - HMMPfam_DDE FHDC1 85462 genome.wustl.edu 37 4 153897117 153897117 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_033393.2 +1 validated p.R892W 0.997 23 0% 19 26.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM46 166863 genome.wustl.edu 37 4 155720031 155720031 + Nonsense_Mutation SNP T T A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_144979.3 +1 validated p.Y239* 1.000 77 0% 95 26.3% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 CDKN2AIP 55602 genome.wustl.edu 37 4 184367453 184367453 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_017632.2 +1 provisional p.G206* 0.136 174 0% 137 25.5% 26 42.3% - - - NULL BRD9 65980 genome.wustl.edu 37 5 879974 879974 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_023924.4 -1 validated p.S262L 1.000 327 0% 756 10.1% 93 15% probably_damaging(0.998) tolerated(0.31) deleterious(0.501) NULL DROSHA 29102 genome.wustl.edu 37 5 31486602 31486602 + Missense_Mutation SNP G G C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_013235.4 -1 validated p.P637R 1.000 229 0% 459 21.4% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CWC27 10283 genome.wustl.edu 37 5 64314116 64314116 + Missense_Mutation SNP A A C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_005869.2 +1 validated p.K463Q 1.000 128 0% 83 75.9% 5 100% probably_damaging(0.99) tolerated(0.38) neutral(0.459) NULL PCDHA2 56146 genome.wustl.edu 37 5 140176463 140176463 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_018905.2 +1 reviewed p.D638 0.002 95 0% 84 73.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like OR2B3 442184 genome.wustl.edu 37 6 29054301 29054301 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001005226.2 -1 validated p.G242E 0.626 113 0% 228 24.6% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GNL1 2794 genome.wustl.edu 37 6 30515142 30515142 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_005275.3 -1 validated p.P422H 1.000 142 0% 220 19.5% 156 20.5% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases VPS52 6293 genome.wustl.edu 37 6 33219411 33219411 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_022553.4 -1 reviewed p.R637W 1.000 153 0% 279 19.4% 47 25.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL GRM4 2914 genome.wustl.edu 37 6 34101142 34101142 + Silent SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000841.1 -1 reviewed p.R44 0.993 38 0% 46 21.7% 0 - - - - superfamily_Periplasmic binding protein-like I TNFRSF21 27242 genome.wustl.edu 37 6 47252121 47252121 + Missense_Mutation SNP C C G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_014452.3 -1 reviewed p.V266L 1.000 544 0% 813 18.6% 337 25.2% possibly_damaging(0.466) deleterious(0.02) deleterious(0.536) NULL IMPG1 3617 genome.wustl.edu 37 6 76715183 76715183 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001563.2 -1 provisional p.A319E 0.000 374 0.5% 591 22.8% 0 - benign(0.011) tolerated(1) neutral(0.001) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 ZNF292 23036 genome.wustl.edu 37 6 87966983 87966983 + Silent SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_015021.1 +1 validated p.N1212 0.848 81 0% 209 25.8% 7 28.5% - - - NULL MANEA 79694 genome.wustl.edu 37 6 96034487 96034487 + Missense_Mutation SNP A A T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_024641.2 +1 validated p.N58Y 0.007 187 0% 303 20.5% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL SLC22A16 85413 genome.wustl.edu 37 6 110778151 110778152 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_033125.2 -1 provisional p.S41fs 0.976:1.000 - - - - - - - - - NULL HDAC2 3066 genome.wustl.edu 37 6 114267320 114267322 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000432975 -1 known p.L28in_frame_del 0.639:0.636:0.050 - - - - - - - - - NULL NHSL1 57224 genome.wustl.edu 37 6 138893048 138893050 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000342260 -1 known p.MKKE1in_frame_del* 1.000 - - - - - - - - - NULL PHF14 9678 genome.wustl.edu 37 7 11068419 11068421 + In_Frame_Del DEL CTG CTG - rs150121849 by1000genomes TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000303905 +1 known p.L478in_frame_del 0.853:1.000:0.999 - - - - - - - - - HMMSmart_PHD PDE1C 5137 genome.wustl.edu 37 7 31920390 31920390 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_005020.1 -1 provisional p.V71A 1.000 401 0% 399 27.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL GLI3 2737 genome.wustl.edu 37 7 42005919 42005919 + Silent SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000168.5 -1 reviewed p.L918 1.000 37 0% 37 45.9% 16 62.5% - - - NULL SLC25A40 55972 genome.wustl.edu 37 7 87465641 87465641 + Missense_Mutation SNP A A C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_018843.2 -1 validated p.C314G 1.000 148 0% 137 35.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ZC3HAV1 56829 genome.wustl.edu 37 7 138794068 138794068 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020119.3 -1 reviewed p.P4T 0.942 15 0% 13 46.2% 12 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CSMD1 64478 genome.wustl.edu 37 8 3072068 3072068 + Missense_Mutation SNP A A C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_033225.5 -1 validated p.I1607M 0.968 271 0% 400 19.5% 0 - benign(0) tolerated(0.6) neutral(0.004) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain FGF17 8822 genome.wustl.edu 37 8 21904064 21904064 + Missense_Mutation SNP T T G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003867.2 +1 reviewed p.F93V 0.996 199 0% 302 30.5% 3 0% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine NEFM 4741 genome.wustl.edu 37 8 24772127 24772127 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_005382.2 +1 reviewed p.R274H 1.000 94 1.1% 169 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament CHCHD7 79145 genome.wustl.edu 37 8 57127228 57127228 + Splice_Site SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001011668.1 +1 validated e2+2 1.000 410 0% 625 20.2% 0 - - - - - MIR124-2 406908 genome.wustl.edu 37 8 65291812 65291812 + RNA SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000385081 +1 known NULL 0.936 121 0% 200 24.5% 0 - - - - - VPS13B 157680 genome.wustl.edu 37 8 100865681 100865681 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_017890.3 +1 reviewed p.A3380V 0.083 110 0% 188 25% 8 25% benign(0.004) tolerated(0.07) neutral(0.319) NULL CSMD3 114788 genome.wustl.edu 37 8 113662441 113662441 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_198123.1 -1 validated p.L1048I 0.977 175 0% 285 29.1% 0 - benign(0.053) tolerated(0.77) neutral(0.005) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain FAM135B 51059 genome.wustl.edu 37 8 139163582 139163582 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_015912.3 -1 validated p.S1046P 0.999 131 0.8% 188 58.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL INSL4 3641 genome.wustl.edu 37 9 5233789 5233789 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_002195.1 +1 reviewed p.R111H 0.000 191 0% 299 10.7% 0 - possibly_damaging(0.807) tolerated(0.16) neutral(0.363) NULL PGM5 5239 genome.wustl.edu 37 9 71114229 71114229 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_021965.3 +1 validated p.Y522 0.997 190 0.5% 143 47.6% 7 57.1% - - - HMMPfam_PGM_PMM_IV,superfamily_Phosphoglucomutase C-terminal domain GCNT1 2650 genome.wustl.edu 37 9 79117365 79117365 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001097633.1 +1 reviewed p.V23A 0.621 132 0% 127 49.6% 2 100% benign(0.001) tolerated(0.4) neutral(0.016) NULL SYK 6850 genome.wustl.edu 37 9 93650849 93650849 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003177.5 +1 reviewed p.G592V 0.992 322 0% 215 47.4% 62 82.2% benign(0.156) tolerated(0.09) neutral(0.310) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPB41L4B 54566 genome.wustl.edu 37 9 111976038 111976038 + Missense_Mutation SNP T T A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_019114.3 -1 validated p.E565V 0.994 240 0% 159 78.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL EHMT1 79813 genome.wustl.edu 37 9 140637853 140637853 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000460843 +1 known p.V285A 1.000 111 0% 85 48.2% 8 87.5% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL WDFY4 57705 genome.wustl.edu 37 10 49939514 49939514 + Missense_Mutation SNP G G C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020945.1 +1 validated p.D497H 0.955 73 0% 37 78.4% 1 0% benign(0.104) tolerated(0.09) neutral(0.304) superfamily_ARM repeat PTEN 5728 genome.wustl.edu 37 10 89692935 89692935 + Nonsense_Mutation SNP T T G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000371953 +1 known p.L140* 1.000 247 0% 194 73.7% 5 80% - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II C10orf26 54838 genome.wustl.edu 37 10 104572427 104572427 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001083913.1 +1 validated p.S144I 1.000 138 0% 91 53.8% 28 60.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RBM20 282996 genome.wustl.edu 37 10 112581679 112581679 + Splice_Site SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000465774 +1 known NULL 1.000 97 0% 64 35.9% 0 - - - - - ATRNL1 26033 genome.wustl.edu 37 10 117093845 117093845 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_207303.2 +1 validated p.C1031R 1.000 331 0% 172 51.7% 6 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin MRGPRE 116534 genome.wustl.edu 37 11 3249426 3249428 + In_Frame_Del DEL GCA GCA - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001039165.2 -1 validated p.L200in_frame_del 0.003:0.008:0.062 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MRGPRE 116534 genome.wustl.edu 37 11 3249607 3249623 + Frame_Shift_Del DEL GGTGGTCAGGTGGCGTG GGTGGTCAGGTGGCGTG - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 GGTGGTCAGGTGGCGTG GGTGGTCAGGTGGCGTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001039165.2 -1 validated p.P135fs 0.009:0.008:0.000:0.000:0.012:0.003:0.001:0.000:0.004:0.051:0.044:0.039:0.002:0.001:0.005:0.052:0.587 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51T1 401665 genome.wustl.edu 37 11 4903148 4903148 + Missense_Mutation SNP A A G rs34690738 TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001004759.1 +1 provisional p.T34A 0.991 300 0% 283 25.1% 0 - possibly_damaging(0.787) deleterious(0.03) deleterious(0.659) NULL EIF3F 8665 genome.wustl.edu 37 11 8014442 8014442 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003754.2 +1 validated p.T175M 1.000 106 0% 100 20% 353 22.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mov34,HMMSmart_JAB_MPN ACCSL 390110 genome.wustl.edu 37 11 44073241 44073241 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001031854.2 +1 validated p.A248 0.011 732 0% 717 44.4% 0 - - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ARHGAP1 392 genome.wustl.edu 37 11 46700689 46700689 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_004308.2 -1 provisional p.A406 0.009 336 0% 358 13.7% 75 20% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ALKBH8 91801 genome.wustl.edu 37 11 107431621 107431621 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000417449 -1 known p.A2D 0.019 173 0% 189 30.7% 3 0% unknown(0) - - NULL NPAT 4863 genome.wustl.edu 37 11 108061222 108061222 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_002519.2 -1 validated p.M99T 1.000 269 0% 325 29.8% 2 50% possibly_damaging(0.722) deleterious(0.01) deleterious(0.667) NULL GPRC5A 9052 genome.wustl.edu 37 12 13061271 13061271 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003979.3 +1 reviewed p.V30I 1.000 72 0% 104 35.6% 7 42.8% benign(0.009) tolerated(0.23) neutral(0.042) NULL COL2A1 1280 genome.wustl.edu 37 12 48374742 48374742 + Missense_Mutation SNP C C G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001844.4 -1 reviewed p.G825R 1.000 76 0% 66 43.9% 15 40% unknown(0) deleterious(0) - HMMPfam_Collagen ADCY6 112 genome.wustl.edu 37 12 49162494 49162494 + Silent SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_015270.3 -1 reviewed p.T1129 1.000 137 0.7% 176 14.8% 18 16.6% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ASIC1 41 genome.wustl.edu 37 12 50474357 50474357 + Missense_Mutation SNP A A T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020039.2 +1 reviewed p.I428F 1.000 219 0% 239 27.2% 2 0% benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_ASC KRT73 319101 genome.wustl.edu 37 12 53011883 53011883 + Missense_Mutation SNP C C G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_175068.2 -1 reviewed p.K142N 0.998 199 0% 212 36.3% 0 - possibly_damaging(0.82) deleterious(0) deleterious(0.755) HMMPfam_Filament SOAT2 8435 genome.wustl.edu 37 12 53499744 53499744 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003578.3 +1 reviewed p.G130D 0.923 102 0% 109 25.7% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL ACACB 32 genome.wustl.edu 37 12 109689902 109689902 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001093.3 +1 reviewed p.R1948* 1.000 148 0% 155 26.5% 9 0% - - - HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase OAS2 4939 genome.wustl.edu 37 12 113442836 113442836 + Missense_Mutation SNP A A T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_016817.2 +1 reviewed p.N426I 0.000 204 0% 266 46.6% 36 55.5% possibly_damaging(0.832) deleterious(0.01) deleterious(0.723) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase POLE 5426 genome.wustl.edu 37 12 133249804 133249804 + Silent SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_006231.2 -1 validated p.Y473 0.768 280 0% 294 22.1% 67 44.7% - - - HMMSmart_POLBc,superfamily_RNaseH_fold ENSG00000187721 0 genome.wustl.edu 37 13 19601018 19601018 + Missense_Mutation SNP C C G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000433887 -1 known p.Q84H 0.784 26 0% 22 72.7% 0 - possibly_damaging(0.823) deleterious(0) deleterious(0.756) HMMPfam_GTF2I RB1 5925 genome.wustl.edu 37 13 48947629 48947629 + Splice_Site SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000321.2 +1 reviewed e12+1 1.000 135 0% 88 78.4% 0 - - - - - PCDH9 5101 genome.wustl.edu 37 13 67205537 67205537 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_203487.2 -1 reviewed p.R1049C 1.000 106 0% 65 12.3% 0 - possibly_damaging(0.912) deleterious(0) deleterious(0.808) NULL TBC1D4 9882 genome.wustl.edu 37 13 75936666 75936666 + Silent SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_014832.2 -1 validated p.N192 0.069 161 0% 113 44.2% 10 70% - - - superfamily_PH domain-like YY1 7528 genome.wustl.edu 37 14 100705788 100705790 + In_Frame_Del DEL CCA CCA - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003403.3 +1 reviewed p.H73in_frame_del 0.016:0.090:0.106 - - - - - - - - - NULL HERC2 8924 genome.wustl.edu 37 15 28408246 28408246 + Silent SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_004667.4 -1 reviewed p.Y3580 0.997 55 0% 30 43.3% 16 50% - - - NULL JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42131176 42131176 + RNA SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NR_015346.1 +1 validated NULL 0.173 74 0% 47 48.9% 0 - - - - - GABPB1 2553 genome.wustl.edu 37 15 50578281 50578281 + Missense_Mutation SNP T T G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_005254.5 -1 reviewed p.E340A 1.000 282 0% 198 75.3% 10 100% benign(0.123) deleterious(0) neutral(0.455) NULL ZNF768 79724 genome.wustl.edu 37 16 30535975 30535975 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_024671.3 -1 validated p.R496C 1.000 63 0% 46 39.1% 117 59.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CMTM2 146225 genome.wustl.edu 37 16 66613719 66613719 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_144673.2 +1 reviewed p.R70H 0.062 73 0% 42 47.6% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL INPP5K 51763 genome.wustl.edu 37 17 1413080 1413080 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_016532.3 -1 reviewed p.R92H 0.999 97 0% 89 58.4% 13 53.8% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SPATA22 84690 genome.wustl.edu 37 17 3372583 3372583 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_032598.4 -1 validated p.T13A 1.000 184 0% 142 47.9% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL TRPV3 162514 genome.wustl.edu 37 17 3436060 3436060 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_145068.2 -1 reviewed p.R319H 0.847 195 0% 94 45.7% 4 75% benign(0.038) tolerated(0.24) neutral(0.040) superfamily_Ankyrin repeat TP53 7157 genome.wustl.edu 37 17 7577565 7577565 + Missense_Mutation SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000546.4 -1 reviewed p.N239S 1.000 166 0% 93 75.3% 228 96.4% benign(0.236) deleterious(0.02) neutral(0.407) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 MYH2 4620 genome.wustl.edu 37 17 10447073 10447073 + Silent SNP G G C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001100112.1 -1 reviewed p.A232 1.000 301 0% 202 49% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MAP2K4 6416 genome.wustl.edu 37 17 12011162 12011184 + Frame_Shift_Del DEL AATATGTATATAGTGTATTAGAT AATATGTATATAGTGTATTAGAT - novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 AATATGTATATAGTGTATTAGAT AATATGTATATAGTGTATTAGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_003010.2 +1 reviewed p.K190fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TRIM16 10626 genome.wustl.edu 37 17 15535954 15535954 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_006470.3 -1 reviewed p.T295I 0.157 311 0% 212 9.9% 13 15.3% probably_damaging(0.983) tolerated(0.07) deleterious(0.748) NULL DRG2 1819 genome.wustl.edu 37 17 18003953 18003953 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_001388.3 +1 reviewed p.Q204R 1.000 159 0% 109 54.1% 57 54.3% benign(0.004) tolerated(0.55) neutral(0.007) superfamily_P-loop containing nucleoside triphosphate hydrolases RNF112 7732 genome.wustl.edu 37 17 19316905 19316905 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_007148.4 +1 reviewed p.V246M 1.000 157 0% 78 10.3% 0 - - - - HMMPfam_GBP,superfamily_SSF52540 KSR1 8844 genome.wustl.edu 37 17 25928932 25928932 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_014238.1 +1 validated p.G371 0.767 199 0% 151 56.3% 0 - - - - NULL SGCA 6442 genome.wustl.edu 37 17 48247549 48247549 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000023.2 +1 reviewed p.G265C 0.998 209 0% 131 46.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sarcoglycan_2 BRIP1 83990 genome.wustl.edu 37 17 59820418 59820418 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_032043.1 -1 reviewed p.V779I 1.000 257 0% 160 10.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00491 RPTOR 57521 genome.wustl.edu 37 17 78727893 78727893 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_020761.2 +1 reviewed p.C246 0.381 148 0% 113 12.4% 18 27.7% - - - NULL GNAL 2774 genome.wustl.edu 37 18 11867209 11867209 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_182978.2 +1 validated p.W298* 1.000 581 0% 722 38.6% 8 50% - - - HMMPfam_G-alpha,superfamily_SSF52540 SLC14A2 8170 genome.wustl.edu 37 18 43247878 43247878 + Missense_Mutation SNP G G T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_007163.3 +1 validated p.G600C 1.000 305 0% 342 28.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UT ZNF532 55205 genome.wustl.edu 37 18 56621000 56621000 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_018181.4 +1 validated p.Y1040C 1.000 139 0% 106 33% 92 29.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ENSG00000207072 0 genome.wustl.edu 37 18 66526207 66526207 + RNA SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 ENST00000384344 +1 novel NULL 0.000 43 0% 36 52.8% 0 - - - - - ARID3A 1820 genome.wustl.edu 37 19 965062 965062 + Missense_Mutation SNP G G A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_005224.2 +1 reviewed p.A394T 0.675 45 0% 36 33.3% 4 50% benign(0.008) tolerated(0.71) neutral(0.002) NULL SAMD4B 55095 genome.wustl.edu 37 19 39847697 39847697 + Missense_Mutation SNP T T A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_018028.2 +1 provisional p.I55N 1.000 89 0% 58 13.8% 105 13.3% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL PTGIR 5739 genome.wustl.edu 37 19 47127140 47127140 + Missense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000960.3 -1 reviewed p.V115M 0.981 4 0.000 6 0.833 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 PLCB4 5332 genome.wustl.edu 37 20 9453459 9453459 + Missense_Mutation SNP A A G novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000933.3 +1 reviewed p.S1113G 1.000 221 0% 293 23.5% 7 0% possibly_damaging(0.636) tolerated(0.12) deleterious(0.483) NULL NINL 22981 genome.wustl.edu 37 20 25459720 25459720 + Missense_Mutation SNP C C A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_025176.4 -1 validated p.E680D 0.885 58 0% 56 32.1% 10 10% probably_damaging(0.985) tolerated(0.06) deleterious(0.754) NULL RPRD1B 58490 genome.wustl.edu 37 20 36686026 36686026 + Missense_Mutation SNP C C A novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_021215.3 +1 validated p.P170T 1.000 123 0% 169 28.4% 3 33.3% benign(0) tolerated(0.23) neutral(0.042) NULL RBM11 54033 genome.wustl.edu 37 21 15599471 15599471 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_144770.3 +1 validated p.Q235* 0.096 422 0% 441 27.7% 2 0% - - - NULL GART 2618 genome.wustl.edu 37 21 34889432 34889432 + Silent SNP C C T novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_000819.4 -1 reviewed p.T657 0.945 143 0% 154 22.7% 50 34% - - - HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like NRK 203447 genome.wustl.edu 37 X 105167391 105167391 + Silent SNP T T C novel TCGA-D1-A16N-01A-11D-A12J-09 TCGA-D1-A16N-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd7e77d2-cfe7-4b7a-8958-43e34b8292ee 597fa1b9-bf5a-401b-843c-cd771639b836 NM_198465.2 +1 validated p.D964 0.006 226 0% 173 80.9% 0 - - - - NULL