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 PRDM16 63976 genome.wustl.edu 37 1 3329209 3329209 + Silent SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_022114.3 +1 reviewed p.N816 1.000 4 0.000 8 0.875 - - - - - NULL AJAP1 55966 genome.wustl.edu 37 1 4829952 4829952 + Missense_Mutation SNP T T A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001042478.1 +1 validated p.L290H 1.000 138 0% 115 50.4% - - possibly_damaging(0.804) deleterious(0) deleterious(0.747) NULL ELAVL4 1996 genome.wustl.edu 37 1 50659454 50659454 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001144775.1 +1 validated p.P141 0.955 55 0% 47 53.2% - - - - - superfamily_SSF54928 SRSF11 9295 genome.wustl.edu 37 1 70703152 70703152 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_004768.2 +1 reviewed p.S212L 1.000 122 0% 88 25% - - unknown(0) tolerated(0.11) - NULL GBP7 388646 genome.wustl.edu 37 1 89630419 89630419 + Nonsense_Mutation SNP C C A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_207398.2 -1 validated p.E105* 0.998 75 0% 93 19.4% - - - - - HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases CD58 965 genome.wustl.edu 37 1 117078739 117078739 + Nonsense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001779.2 -1 reviewed p.W159* 0.077 67 0% 70 30% - - - - - NULL HRNR 388697 genome.wustl.edu 37 1 152193532 152193532 + Silent SNP G G T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001009931.1 -1 validated p.G191 0.000 72 0% 58 25.9% - - - - - NULL FLG 2312 genome.wustl.edu 37 1 152279728 152279728 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_002016.1 -1 reviewed p.G2545A 0.002 213 0% 181 24.3% - - unknown(0) tolerated(0.69) - HMMPfam_Filaggrin FCRL5 83416 genome.wustl.edu 37 1 157485644 157485644 + Silent SNP A A G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_031281.2 -1 validated p.H944 0.000 50 0% 58 24.1% - - - - - NULL ASPM 259266 genome.wustl.edu 37 1 197056094 197056094 + Silent SNP T T A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_018136.4 -1 reviewed p.R3390 0.997 73 0% 68 23.5% - - - - - NULL SLC30A1 7779 genome.wustl.edu 37 1 211751381 211751381 + Frame_Shift_Del DEL G G - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_021194.2 -1 validated p.L192fs 0.997 - - - - - - - - - HMMPfam_Cation_efflux LOC388946 388946 genome.wustl.edu 37 2 46707884 46707884 + Missense_Mutation SNP A A G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001145051.1 +1 validated p.Q153R 0.238 14 0% 16 31.2% - - benign(0) tolerated(0.57) neutral(0.006) NULL AFF3 3899 genome.wustl.edu 37 2 100266104 100266104 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001025108.1 -1 reviewed p.R415C 1.000 55 0% 57 42.1% - - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_AF-4 SCN3A 6328 genome.wustl.edu 37 2 165947296 165947296 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_006922.3 -1 reviewed p.D1789 1.000 99 0% 102 14.7% - - - - - superfamily_SSF81324 RESP18 389075 genome.wustl.edu 37 2 220193912 220193912 + Silent SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001007089.3 -1 validated p.L176 0.014 49 0% 35 17.1% - - - - - NULL ECEL1 9427 genome.wustl.edu 37 2 233344881 233344890 + Frame_Shift_Del DEL GTGGGCAGGG GTGGGCAGGG - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 GTGGGCAGGG GTGGGCAGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_004826.2 -1 validated p.N767fs 1.000:1.000:0.989:0.223:0.205:0.462:0.467:1.000:1.000:1.000 - - - - - - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" SI 6476 genome.wustl.edu 37 3 164786560 164786560 + Missense_Mutation SNP T T A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001041.3 -1 reviewed p.S145C 0.000 109 0% 116 23.3% - - possibly_damaging(0.523) deleterious(0.05) deleterious(0.522) NULL NOA1 84273 genome.wustl.edu 37 4 57842835 57842835 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_032313.2 -1 provisional p.S306F 0.001 12 0% 15 53.3% - - possibly_damaging(0.807) deleterious(0.01) deleterious(0.710) superfamily_SSF52540 UTP3 57050 genome.wustl.edu 37 4 71554691 71554693 + In_Frame_Del DEL GGA GGA - rs146575538 by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_020368.2 +1 validated p.E103in_frame_del 0.002:0.002:0.002 - - - - - - - - - NULL HNRNPD 3184 genome.wustl.edu 37 4 83278008 83278013 + In_Frame_Del DEL TGCTGA TGCTGA - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 TGCTGA TGCTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_031370.2 -1 reviewed p.YQQQQQ263in_frame_del* 1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_RNA-binding domain RBD FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_033632.2 -1 reviewed p.R465C 1.000 86 0% 62 54.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CTSO 1519 genome.wustl.edu 37 4 156850802 156850802 + Missense_Mutation SNP T T C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001334.2 -1 reviewed p.I244V 0.000 78 0% 45 11.1% - - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 GLRB 2743 genome.wustl.edu 37 4 158058015 158058015 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_000824.4 +1 reviewed p.R196P 0.993 147 0% 150 23.3% - - possibly_damaging(0.835) tolerated(0.27) neutral(0.352) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL ERBB2IP 55914 genome.wustl.edu 37 5 65349762 65349769 + Frame_Shift_Del DEL CATAACTA CATAACTA - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 CATAACTA CATAACTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_018695.2 +1 reviewed p.S872fs 0.996:1.000:1.000:1.000:1.000:1.000:0.997:1.000 - - - - - - - - - NULL PPP2CA 5515 genome.wustl.edu 37 5 133534831 133534831 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_002715.2 -1 reviewed p.R268H 1.000 65 0% 69 63.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PCDHGB1 56104 genome.wustl.edu 37 5 140731361 140731361 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_018922.2 +1 reviewed p.A512T 1.000 7 0.000 12 0.667 - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH12 51294 genome.wustl.edu 37 5 141324966 141324967 + In_Frame_Ins INS - - GCTGCTGCTGCTGCTGCC rs66773906 TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_016580.2 -1 reviewed p.1178in_frame_insGSSSSS 0.002:0.001 - - - - - - - - - NULL COL19A1 1310 genome.wustl.edu 37 6 70639345 70639345 + Missense_Mutation SNP A A C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001858.4 +1 reviewed p.K140T 1.000 94 0% 56 16.1% - - unknown(0) tolerated(0.08) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl CLVS2 134829 genome.wustl.edu 37 6 123332253 123332253 + Missense_Mutation SNP A A T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001010852.2 +1 provisional p.Q171H 1.000 83 0% 68 11.8% - - probably_damaging(0.989) tolerated(0.23) deleterious(0.481) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain PTPRK 5796 genome.wustl.edu 37 6 128505748 128505748 + Nonsense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001135648.1 -1 validated p.R331* 1.000 87 0% 61 47.5% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SCAF8 22828 genome.wustl.edu 37 6 155129895 155129895 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_014892.3 +1 validated p.R397C 1.000 91 0% 85 43.5% - - unknown(0) deleterious(0) - NULL OCM 654231 genome.wustl.edu 37 7 5922122 5922122 + Splice_Site SNP A A G rs193133847 by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001097622.1 +1 validated e2-2 1.000 66 0% 76 14.5% - - - - - - CREB5 9586 genome.wustl.edu 37 7 28857730 28857730 + Nonsense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_182898.2 +1 reviewed p.Q433* 1.000 76 0% 88 31.8% - - - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 ABCA13 154664 genome.wustl.edu 37 7 48390326 48390326 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_152701.3 +1 reviewed p.V3431M 0.350 78 0% 101 48.5% - - probably_damaging(1) - - NULL TYW1 55253 genome.wustl.edu 37 7 66660159 66660159 + Silent SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_018264.2 +1 validated p.G604 1.000 72 0% 35 42.9% - - - - - HMMPfam_Wyosine_form,superfamily_Radical SAM enzymes GIMAP8 155038 genome.wustl.edu 37 7 150174275 150174275 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_175571.2 +1 reviewed p.R469W 0.000 52 0% 36 27.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_AIG1,superfamily_SSF52540 CSMD1 64478 genome.wustl.edu 37 8 2811774 2811774 + Silent SNP T T C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_033225.5 -1 validated p.E3338 1.000 86 0% 75 24% - - - - - NULL VDAC3 7419 genome.wustl.edu 37 8 42256286 42256286 + Silent SNP A A G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001135694.1 +1 validated p.L59 1.000 38 0% 69 14.5% - - - - - HMMPfam_Porin_3 EPPK1 83481 genome.wustl.edu 37 8 144940666 144940666 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_031308.1 -1 validated p.G2252 0.192 33 0% 62 9.7% - - - - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat LOC730110 730110 genome.wustl.edu 37 9 35148779 35148779 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 XM_002342891.1 -1 model p.Q135E 0.175 62 0% 55 23.6% - - - - - NULL LOC642236 642236 genome.wustl.edu 37 9 68438558 68438560 + RNA DEL CTT CTT - rs144201632 byCluster;by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 XR_041085.2 -1 model NULL 1.000:1.000:1.000 - - - - - - - - - - C9orf174 100499483 genome.wustl.edu 37 9 100056305 100056305 + Missense_Mutation SNP C C A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_020893.1 +1 predicted p.L55M 1.000 68 0% 62 29% - - probably_damaging(0.989) deleterious(0.03) deleterious(0.804) NULL C9orf156 51531 genome.wustl.edu 37 9 100672881 100672881 + Missense_Mutation SNP A A G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_016481.3 -1 validated p.S143P 1.000 52 0% 32 43.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0066 C10orf71 118461 genome.wustl.edu 37 10 50531010 50531010 + Silent SNP C C A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001135196.1 +1 validated p.V140 0.064 34 0% 24 66.7% - - - - - NULL ACADSB 36 genome.wustl.edu 37 10 124797267 124797267 + Missense_Mutation SNP A A C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001609.3 +1 reviewed p.K69N 0.986 27 0% 31 19.4% - - benign(0.023) tolerated(0.16) neutral(0.060) HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like DCDC1 341019 genome.wustl.edu 37 11 31327282 31327282 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_181807.2 -1 validated p.A212T 0.866 48 0% 58 34.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF89837 PAMR1 25891 genome.wustl.edu 37 11 35454061 35454061 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_015430.2 -1 validated p.A686V 0.976 25 0% 25 24% - - benign(0.011) tolerated(0.79) neutral(0.002) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys NRXN2 9379 genome.wustl.edu 37 11 64436059 64436059 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 ENST00000437746 -1 known p.R180W 1.000 47 0% 30 13.3% - - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 SLC36A4 120103 genome.wustl.edu 37 11 92914877 92914877 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_152313.2 -1 provisional p.Q145H 1.000 56 0% 55 21.8% - - benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_Aa_trans CHD4 1108 genome.wustl.edu 37 12 6701583 6701583 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001273.2 -1 reviewed p.R975H 1.000 33 0% 49 46.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N CAPZA3 93661 genome.wustl.edu 37 12 18891555 18891555 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_033328.2 +1 reviewed p.R118T 0.990 45 0% 51 25.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F-actin_cap_A,superfamily_SSF90096 KRT4 3851 genome.wustl.edu 37 12 53204567 53204567 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_002272.2 -1 reviewed p.A311 0.603 110 0% 84 20.2% - - - - - HMMPfam_Filament ENSG00000247550 0 genome.wustl.edu 37 12 53433649 53433650 + RNA INS - - T rs55962315 byCluster TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 ENST00000499537 -1 novel NULL 0.000:0.000 - - - - - - - - - - AMHR2 269 genome.wustl.edu 37 12 53819243 53819243 + Silent SNP G G A rs35355410 byCluster;byFrequency;by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_020547.2 +1 reviewed p.L169 0.731 43 0% 41 31.7% - - - - - NULL SLC5A8 160728 genome.wustl.edu 37 12 101551143 101551143 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_145913.3 -1 validated p.E583K 0.991 72 0% 54 14.8% - - benign(0.15) deleterious(0.04) neutral(0.362) NULL UBE3B 89910 genome.wustl.edu 37 12 109949051 109949051 + Missense_Mutation SNP C C A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_130466.2 +1 reviewed p.D633E 1.000 81 1.2% 48 77.1% - - benign(0.001) tolerated(0.12) neutral(0.261) NULL LRRC16B 90668 genome.wustl.edu 37 14 24530804 24530804 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_138360.3 +1 validated p.E801D 1.000 23 0% 40 15% - - unknown(0) deleterious(0.04) - NULL HECTD1 25831 genome.wustl.edu 37 14 31647263 31647263 + Missense_Mutation SNP T T C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_015382.2 -1 validated p.N113S 1.000 82 0% 126 11.9% - - benign(0.003) tolerated(1) - superfamily_ARM repeat C14orf39 317761 genome.wustl.edu 37 14 60935176 60935176 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_174978.2 -1 validated p.E252K 1.000 242 0% 294 29.3% - - benign(0.224) deleterious(0) neutral(0.467) NULL FLVCR2 55640 genome.wustl.edu 37 14 76090958 76090958 + Missense_Mutation SNP T T G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_017791.2 +1 validated p.F272C 1.000 62 0% 77 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CLMN 79789 genome.wustl.edu 37 14 95669692 95669692 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_024734.3 -1 validated p.S665F 0.981 21 0% 21 52.4% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL IGHV1-18 28468 genome.wustl.edu 37 14 106641961 106641961 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 ENST00000390605 -1 known p.A13P 0.243 89 1.1% 83 33.7% - - possibly_damaging(0.609) deleterious(0.02) deleterious(0.594) NULL ARIH1 25820 genome.wustl.edu 37 15 72767053 72767055 + In_Frame_Del DEL GAG GAG - rs143905502 by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_005744.3 +1 validated p.E28in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL NLRC3 197358 genome.wustl.edu 37 16 3613724 3613724 + Frame_Shift_Del DEL A A - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_178844.2 -1 validated p.F405fs 1.000 - - - - - - - - - NULL SHISA9 729993 genome.wustl.edu 37 16 13297318 13297318 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001145204.2 +1 validated p.S294 0.038 73 0% 55 43.6% - - - - - NULL CPNE2 221184 genome.wustl.edu 37 16 57157363 57157363 + Missense_Mutation SNP G G A rs138717944 TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_152727.4 +1 reviewed p.G302E 1.000 43 0% 29 27.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53300 GOT2 2806 genome.wustl.edu 37 16 58743428 58743428 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_002080.2 -1 reviewed p.R355G 0.999 38 0% 33 48.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases TERF2 7014 genome.wustl.edu 37 16 69404410 69404410 + Frame_Shift_Del DEL A A - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_005652.2 -1 reviewed p.D230fs 0.677 - - - - - - - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain GLG1 2734 genome.wustl.edu 37 16 74501698 74501698 + Missense_Mutation SNP C C G novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_012201.5 -1 validated p.D829H 1.000 84 0% 58 29.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cys_rich_FGFR DNAAF1 123872 genome.wustl.edu 37 16 84203693 84203693 + Missense_Mutation SNP C C A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_178452.4 +1 reviewed p.T420N 0.001 31 0% 16 37.5% - - benign(0.288) deleterious(0) deleterious(0.533) NULL TP53 7157 genome.wustl.edu 37 17 7577571 7577571 + Missense_Mutation SNP A A T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_000546.4 -1 reviewed p.M237K 1.000 31 0% 22 86.4% - - benign(0.283) deleterious(0) deleterious(0.531) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 ARHGAP44 9912 genome.wustl.edu 37 17 12799784 12799784 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_014859.4 +1 validated p.A52P 0.950 44 0% 17 35.3% - - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_BAR,HMMSmart_BAR TMEM132E 124842 genome.wustl.edu 37 17 32962028 32962028 + Silent SNP G G T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_207313.1 +1 provisional p.R543 1.000 19 0% 26 26.9% - - - - - NULL SNF8 11267 genome.wustl.edu 37 17 47014652 47014652 + Frame_Shift_Del DEL T T - rs146579683 byCluster;by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 ENST00000507302 -1 known p.G83fs 0.000 - - - - - - - - - "HMMPfam_EAP30,superfamily_""Winged helix"" DNA-binding domain" C18orf54 162681 genome.wustl.edu 37 18 51888293 51888293 + Silent SNP C C G rs192378063 by1000genomes TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_173529.4 +1 validated p.R188 0.016 27 0% 38 15.8% - - - - - NULL SERPINB2 5055 genome.wustl.edu 37 18 61562611 61562611 + Silent SNP T T A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001143818.1 +1 validated p.I94 1.000 77 0% 66 25.8% - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin ZNF558 148156 genome.wustl.edu 37 19 8922415 8922415 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_144693.1 -1 provisional p.L251F 0.986 73 0% 47 78.7% - - benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CNN1 1264 genome.wustl.edu 37 19 11658655 11658655 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001299.4 +1 validated p.A145V 0.998 51 0% 58 17.2% - - possibly_damaging(0.796) deleterious(0) deleterious(0.744) superfamily_Calponin-homology domain CH-domain LOC100287841 100287841 genome.wustl.edu 37 19 12359314 12359314 + Missense_Mutation SNP G G C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 XM_002343641.1 -1 model p.S134C 0.746 4 0.000 12 0.333 - - benign(0.003) tolerated(0.15) neutral(0.241) HMMSmart_ZnF_C2H2 CPAMD8 27151 genome.wustl.edu 37 19 17056469 17056469 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_015692.2 -1 validated p.D942N 0.996 33 0% 82 14.6% - - benign(0.025) tolerated(0.29) neutral(0.030) NULL IL4I1 259307 genome.wustl.edu 37 19 50404910 50404910 + Missense_Mutation SNP T T C novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_172374.1 -1 reviewed p.Q22R 0.993 51 0% 42 23.8% - - possibly_damaging(0.666) deleterious(0) deleterious(0.680) NULL FAM3B 54097 genome.wustl.edu 37 21 42694872 42694872 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_058186.3 +1 validated p.V14 0.000 116 0% 106 13.2% - - - - - PatternScan_AMINO_ACID_PERMEASE_1 HMGXB4 10042 genome.wustl.edu 37 22 35661575 35661576 + Frame_Shift_Del DEL AG AG - novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001003681.2 +1 validated p.R402fs 0.996:1.000 - - - - - - - - - superfamily_HMG-box ELFN2 114794 genome.wustl.edu 37 22 37771002 37771002 + Silent SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_052906.3 -1 validated p.C191 0.859 9 0.000 14 0.571 - - - - - HMMSmart_LRRCT,superfamily_SSF52058 CERK 64781 genome.wustl.edu 37 22 47087620 47087620 + Missense_Mutation SNP G G A novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_022766.5 -1 validated p.T394I 0.493 39 0% 28 25% - - benign(0.043) deleterious(0.04) neutral(0.351) NULL GEMIN8 54960 genome.wustl.edu 37 X 14038612 14038612 + Silent SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001042479.1 -1 reviewed p.P19 0.000 41 0% 24 45.8% - - - - - NULL DCAF8L2 347442 genome.wustl.edu 37 X 27765667 27765667 + Missense_Mutation SNP C C T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_001136533.1 +1 provisional p.R219C 0.014 47 0% 23 47.8% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CYLC1 1538 genome.wustl.edu 37 X 83129139 83129139 + Nonsense_Mutation SNP A A T novel TCGA-EO-A1Y5-01A-11D-A159-09 TCGA-EO-A1Y5-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fe3138-f81a-4830-b41d-cb2a7b8244f7 1e2c6a25-f60a-4013-b08e-a4305c4d4567 NM_021118.1 +1 provisional p.K475* 0.016 30 0% 22 31.8% - - - - - NULL