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 MED18 54797 genome.wustl.edu 37 1 28661169 28661169 + Silent SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001127350.1 +1 validated p.C105 0.230 81 0% 76 14.5% - - - - - HMMPfam_Med18 HFM1 164045 genome.wustl.edu 37 1 91813025 91813025 + Missense_Mutation SNP A A G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001017975.3 -1 validated p.S739P 0.998 65 0% 64 43.8% - - benign(0.001) tolerated(0.28) neutral(0.032) NULL KCNN3 3782 genome.wustl.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCTGCTGCT novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_002249.4 -1 reviewed p.81in_frame_insQQQQ 0.748:0.982 - - - - - - - - - NULL LAMC2 3918 genome.wustl.edu 37 1 183209468 183209468 + Silent SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_005562.2 +1 reviewed p.N1090 0.045 36 0% 51 11.8% - - - - - NULL ACBD3 64746 genome.wustl.edu 37 1 226349343 226349343 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_022735.3 -1 reviewed p.R206H 1.000 146 0% 159 44% - - unknown(0) tolerated(0.17) - NULL SRD5A2 6716 genome.wustl.edu 37 2 31805880 31805881 + Frame_Shift_Ins INS - - G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000233139 -1 known p.G31fs 0.000:0.000 - - - - - - - - - NULL DYNC2LI1 51626 genome.wustl.edu 37 2 44023075 44023075 + Missense_Mutation SNP G G T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_016008.2 +1 validated p.G185V 1.000 130 0% 190 27.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases FAM161A 84140 genome.wustl.edu 37 2 62069487 62069487 + Missense_Mutation SNP C C A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_032180.2 -1 validated p.L64F 0.008 49 0% 66 33.3% - - benign(0) tolerated(0.28) neutral(0.032) NULL DYSF 8291 genome.wustl.edu 37 2 71740372 71740372 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001130987.1 +1 reviewed p.G155R 1.000 8 0.000 13 0.462 - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL INPP5D 3635 genome.wustl.edu 37 2 234112925 234112925 + Silent SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000359570 +1 known p.P1043 0.771 12 0% 17 29.4% - - - - - NULL CNTN4 152330 genome.wustl.edu 37 3 3095575 3095575 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_175607.1 +1 reviewed p.E966K 1.000 77 0% 105 53.3% - - possibly_damaging(0.931) tolerated(0.26) neutral(0.411) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TRNT1 51095 genome.wustl.edu 37 3 3189768 3189768 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_182916.2 +1 validated p.R412Q 1.000 34 0% 43 53.5% - - possibly_damaging(0.925) tolerated(0.2) neutral(0.422) superfamily_Poly A polymerase C-terminal region-like CLASP2 23122 genome.wustl.edu 37 3 33663682 33663682 + Missense_Mutation SNP G G T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_015097.1 -1 validated p.L376I 1.000 49 0% 39 30.8% - - benign(0.406) tolerated(0.33) neutral(0.154) superfamily_ARM repeat KBTBD5 131377 genome.wustl.edu 37 3 42727267 42727267 + Missense_Mutation SNP G G T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_152393.2 +1 validated p.A53S 1.000 16 0% 12 41.7% - - possibly_damaging(0.571) tolerated(0.12) neutral(0.456) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ITIH4 3700 genome.wustl.edu 37 3 52858870 52858870 + Silent SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000441637 -1 known p.E146K 0.023 51 0% 46 45.7% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like GYG1 2992 genome.wustl.edu 37 3 148714232 148714232 + Nonsense_Mutation SNP C C G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_004130.3 +1 validated p.S96* 1.000 82 0% 105 39% - - - - - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_006218.2 +1 reviewed p.E545K 1.000 60 1.7% 81 49.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold CTNND2 1501 genome.wustl.edu 37 5 11022919 11022919 + Silent SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001332.2 -1 validated p.I987 0.991 101 0% 209 12% - - - - - HMMSmart_SM00185,superfamily_ARM repeat FYN 2534 genome.wustl.edu 37 6 112015624 112015624 + Silent SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_002037.3 -1 reviewed p.F409 0.266 86 0% 83 27.7% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ORAI2 80228 genome.wustl.edu 37 7 102087396 102087396 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001126340.1 +1 validated p.S221F 1.000 15 0% 73 56.2% - - possibly_damaging(0.524) deleterious(0) deleterious(0.621) HMMPfam_DUF1650 LRWD1 222229 genome.wustl.edu 37 7 102110284 102110286 + In_Frame_Del DEL GCT GCT - novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_152892.1 +1 provisional p.C469in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_WD40_like FOXP2 93986 genome.wustl.edu 37 7 114271581 114271583 + Splice_Site DEL CAG CAG - novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_148898.2 +1 reviewed e6-1 0.101:0.135 - - - - - - - - - - SLC39A14 23516 genome.wustl.edu 37 8 22262229 22262234 + In_Frame_Del DEL GCTGCT GCTGCT - rs111662782 byCluster;by1000genomes TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 GCTGCT GCTGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001128431.2 +1 validated p.LL5in_frame_del 1.000:1.000:0.996:0.998:0.996:0.001 - - - - - - - - - NULL CDCA2 157313 genome.wustl.edu 37 8 25319579 25319579 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_152562.2 +1 validated p.S81L 0.002 68 0% 44 77.3% - - benign(0.344) deleterious(0.01) deleterious(0.514) NULL GPR124 25960 genome.wustl.edu 37 8 37690644 37690644 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_032777.8 +1 validated p.R405H 0.999 17 0% 14 50% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_HRM,superfamily_Hormone receptor domain (HRM Pfam 02793) TTC39B 158219 genome.wustl.edu 37 9 15203833 15203833 + Silent SNP G G C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_152574.2 -1 validated p.L183 1.000 51 0% 51 58.8% - - - - - HMMPfam_Deme6 TRPM3 80036 genome.wustl.edu 37 9 73235259 73235259 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001007471.2 -1 reviewed p.G609A 1.000 61 0% 50 10% - - benign(0.099) tolerated(0.43) neutral(0.021) NULL PRUNE2 158471 genome.wustl.edu 37 9 79322615 79322615 + Silent SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000426088 -1 known p.R847W 0.000 49 0% 58 63.8% - - - - - NULL PRPF18 8559 genome.wustl.edu 37 10 13658500 13658500 + Missense_Mutation SNP T T C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_003675.3 +1 reviewed p.S299P 1.000 63 0% 68 16.2% - - probably_damaging(0.995) tolerated(0.05) deleterious(0.803) HMMPfam_Prp18,superfamily_Functional domain of the splicing factor Prp18 ANKRD30A 91074 genome.wustl.edu 37 10 37486234 37486234 + Silent SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_052997.2 +1 validated p.F824 0.026 349 0% 511 46.6% - - - - - NULL JMJD1C 221037 genome.wustl.edu 37 10 64958410 64958410 + Missense_Mutation SNP C C A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_032776.1 -1 validated p.S1785I 1.000 90 1.1% 121 36.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FGFR2 2263 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T rs121913476 TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_022970.3 -1 reviewed p.N550K 1.000 146 0% 150 48% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like DENND5A 23258 genome.wustl.edu 37 11 9228327 9228327 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_015213.2 -1 validated p.E62Q 1.000 69 0% 82 67.1% - - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) HMMPfam_uDENN,HMMSmart_SM00800 LDHC 3948 genome.wustl.edu 37 11 18434269 18434269 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_002301.4 +1 reviewed p.S2L 0.201 53 0% 47 27.7% - - benign(0.323) deleterious(0) deleterious(0.545) superfamily_NAD(P)-bd OR5D13 390142 genome.wustl.edu 37 11 55541004 55541004 + Missense_Mutation SNP C C A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001001967.1 +1 provisional p.L31M 0.038 68 0% 56 23.2% - - benign(0.039) tolerated(0.13) neutral(0.255) superfamily_SSF81321 OR8J3 81168 genome.wustl.edu 37 11 55904703 55904703 + Missense_Mutation SNP G G T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001004064.1 -1 provisional p.F164L 0.005 93 0% 95 25.3% - - probably_damaging(0.998) tolerated(0.34) deleterious(0.497) HMMPfam_7tm_1,superfamily_SSF81321 MFRP 83552 genome.wustl.edu 37 11 119215080 119215080 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_031433.2 -1 reviewed p.G307D 0.999 46 0% 35 31.4% - - possibly_damaging(0.819) tolerated(0.19) neutral(0.359) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_LDL receptor-like module GRIK4 2900 genome.wustl.edu 37 11 120732718 120732718 + Silent SNP C C A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_014619.2 +1 reviewed p.I265 1.000 70 0% 57 33.3% - - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 A2M 2 genome.wustl.edu 37 12 9232242 9232242 + Silent SNP G G C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_000014.4 -1 reviewed p.L1008 0.095 64 0% 105 41% - - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases C12orf39 80763 genome.wustl.edu 37 12 21680666 21680666 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_030572.2 +1 provisional p.R51C 1.000 11 0% 13 46.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SLC4A8 9498 genome.wustl.edu 37 12 51845946 51845946 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001039960.1 +1 validated p.E106K 1.000 127 0% 149 41.6% - - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL AVIL 10677 genome.wustl.edu 37 12 58201379 58201379 + Silent SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_006576.3 -1 reviewed p.I442 1.000 69 0% 47 44.7% - - - - - HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins AMDHD1 144193 genome.wustl.edu 37 12 96361559 96361559 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_152435.2 +1 validated p.G407R 1.000 36 0% 46 41.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Composite domain of metallo-dependent hydrolases GPR133 283383 genome.wustl.edu 37 12 131561343 131561343 + Nonsense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000446583 +1 known p.Q10* 1.000 47 0% 46 47.8% - - - - - NULL TPTE2 93492 genome.wustl.edu 37 13 19999954 19999955 + Frame_Shift_Ins INS - - GCGAA novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000382977 -1 known p.R321fs 0.013:0.001 - - - - - - - - - NULL SETDB2 83852 genome.wustl.edu 37 13 50050965 50050965 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_031915.2 +1 validated p.R232Q 1.000 52 0% 66 50% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain,superfamily_SET domain IPO4 79711 genome.wustl.edu 37 14 24649748 24649748 + Missense_Mutation SNP G G T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_024658.3 -1 validated p.T1049K 0.934 69 0% 73 26% - - benign(0.003) tolerated(1) - NULL FSCB 84075 genome.wustl.edu 37 14 44974724 44974724 + Silent SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_032135.3 -1 validated p.A489 0.000 19 0% 24 66.7% - - - - - NULL GOLGA6L1 283767 genome.wustl.edu 37 15 22742749 22742749 + Frame_Shift_Del DEL G G - novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001001413.3 +1 provisional p.I379fs 0.079 - - - - - - - - - NULL CIB2 10518 genome.wustl.edu 37 15 78401621 78401621 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_006383.2 -1 validated p.S101L 0.998 48 0% 57 21.1% - - benign(0.045) tolerated(0.24) neutral(0.040) superfamily_SSF47473 PKD1 5310 genome.wustl.edu 37 16 2160332 2160332 + Silent SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001009944.2 -1 reviewed p.T1612 0.001 18 0% 18 50% - - - - - HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain COQ9 57017 genome.wustl.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_020312.1 +1 provisional p.E91in_frame_del 0.757:0.995:0.996 - - - - - - - - - NULL JPH3 57338 genome.wustl.edu 37 16 87637893 87637894 + In_Frame_Ins INS - - CTG novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000301008 +1 known p.148in_frame_insA 0.000:0.030 - - - - - - - - - NULL TP53 7157 genome.wustl.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_000546.4 -1 reviewed p.S241C 1.000 44 0% 26 92.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 ARHGEF15 22899 genome.wustl.edu 37 17 8224302 8224302 + Silent SNP C C A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_173728.2 +1 reviewed p.P839 0.310 13 0% 12 83.3% - - - - - NULL KRTAP9-1 728318 genome.wustl.edu 37 17 39346616 39346617 + In_Frame_Ins INS - - AGCCTAGCTGTGGGTCCAGCTGCTGCC novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000398470 +1 known p.162in_frame_insSCGSSCCQP 0.051:0.002 - - - - - - - - - NULL UNC13D 201294 genome.wustl.edu 37 17 73832686 73832686 + Frame_Shift_Del DEL G G - novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_199242.2 -1 reviewed p.S422fs 0.841 - - - - - - - - - NULL PIGN 23556 genome.wustl.edu 37 18 59828466 59828466 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_012327.5 -1 reviewed p.P41S 1.000 89 0% 100 65% - - benign(0.01) deleterious(0.02) neutral(0.384) NULL ZNF529 57711 genome.wustl.edu 37 19 37038123 37038123 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001145649.1 -1 validated p.G446A 0.999 107 0% 88 26.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_C2H2 and C2HC zinc fingers PSG6 5675 genome.wustl.edu 37 19 43420281 43420281 + Silent SNP T T C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_002782.3 -1 provisional p.L141 0.001 131 0% 117 31.6% - - - - - HMMSmart_IG CEACAM16 388551 genome.wustl.edu 37 19 45202714 45202714 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001039213.2 +1 validated p.L55F 0.370 45 0% 50 52% - - benign(0.069) deleterious(0) neutral(0.449) NULL PPP2R1A 5518 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_014225.5 +1 reviewed p.P179R 1.000 32 0% 20 60% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat PPP6R1 22870 genome.wustl.edu 37 19 55748152 55748152 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_014931.3 -1 validated p.R616H 1.000 77 0% 76 65.8% - - possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) NULL ACSS2 55902 genome.wustl.edu 37 20 33507380 33507383 + Splice_Site DEL GTGT GTGT - rs143168521 byCluster;by1000genomes TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 ENST00000475459 +1 known e3+1 0.975:0.974 - - - - - - - - - - TMPRSS15 5651 genome.wustl.edu 37 21 19744555 19744555 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_002772.2 -1 reviewed p.E207K 1.000 67 1.5% 52 40.4% - - probably_damaging(0.998) tolerated(0.85) deleterious(0.475) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module KCNJ4 3761 genome.wustl.edu 37 22 38822823 38822823 + Missense_Mutation SNP A A C novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_004981.1 -1 reviewed p.Y439D 1.000 12 0% 15 46.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RPGR 6103 genome.wustl.edu 37 X 38156698 38156698 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_001034853.1 -1 reviewed p.S418F 0.005 26 3.8% 54 51.9% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL CDK16 5127 genome.wustl.edu 37 X 47086817 47086817 + Missense_Mutation SNP A A G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_033018.3 +1 reviewed p.K448E 1.000 29 0% 41 46.3% - - benign(0.004) tolerated(0.29) neutral(0.029) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAGEC3 139081 genome.wustl.edu 37 X 140953318 140953318 + Missense_Mutation SNP T T G novel TCGA-EO-A1Y8-01A-11D-A159-09 TCGA-EO-A1Y8-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ea6efcd1-11de-45f0-8bde-f1c06ad27e79 b2edfb0d-d838-4eb1-9c8b-d39f9ffdc4f5 NM_138702.1 +1 reviewed p.V62G 0.000 103 0% 99 18.2% - - unknown(0) - - NULL