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 NPHP4 261734 genome.wustl.edu 37 1 5925318 5925318 + Silent SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_015102.2 -1 reviewed p.A1220 0.000 10 0% 27 51.9% - - - - - NULL LUZP1 7798 genome.wustl.edu 37 1 23420409 23420409 + Nonsense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001142546.1 -1 reviewed p.R116* 1.000 63 0% 64 53.1% - - - - - HMMPfam_CortBP2 TMEM222 84065 genome.wustl.edu 37 1 27657266 27657266 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_032125.2 +1 validated p.R84W 1.000 46 0% 40 22.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_DUF778 MFSD2A 84879 genome.wustl.edu 37 1 40432829 40432829 + Silent SNP C C A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001136493.1 +1 validated p.L346 1.000 49 0% 49 55.1% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter FCER1A 2205 genome.wustl.edu 37 1 159272164 159272164 + Missense_Mutation SNP G G T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_002001.2 +1 reviewed p.A4S 0.000 42 0% 47 40.4% - - benign(0) tolerated(0.59) neutral(0.004) NULL ARID4B 51742 genome.wustl.edu 37 1 235359391 235359400 + Frame_Shift_Del DEL AGGTCTTACT AGGTCTTACT - novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 AGGTCTTACT AGGTCTTACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_016374.5 -1 reviewed p.I624fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00333 ENSG00000228763 0 genome.wustl.edu 37 2 109294892 109294893 + Splice_Site INS - - A rs113803996 byCluster;by1000genomes TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 ENST00000411710 -1 known NULL 0.001:0.000 - - - - - - - - - - KCNJ3 3760 genome.wustl.edu 37 2 155711243 155711243 + Missense_Mutation SNP G G C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_002239.2 +1 reviewed p.M308I 1.000 116 0% 121 46.3% - - - - - HMMPfam_IRK,superfamily_Ig_E-set G6PC2 57818 genome.wustl.edu 37 2 169764244 169764244 + Missense_Mutation SNP G G T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_021176.2 +1 reviewed p.K241N 1.000 55 0% 82 42.7% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SETD5 55209 genome.wustl.edu 37 3 9514988 9514989 + Frame_Shift_Del DEL CT CT - novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001080517.1 +1 provisional p.S1089fs 1.000:1.000 - - - - - - - - - NULL NUP210 23225 genome.wustl.edu 37 3 13413342 13413342 + Missense_Mutation SNP G G T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_024923.2 -1 reviewed p.P593Q 0.810 11 0% 15 26.7% - - benign(0.057) deleterious(0.04) neutral(0.352) NULL ALAS1 211 genome.wustl.edu 37 3 52239987 52239987 + Silent SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_000688.4 +1 validated p.S311 0.012 81 0% 126 36.5% - - - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ATP2C1 27032 genome.wustl.edu 37 3 130650887 130650887 + Missense_Mutation SNP A A T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001001486.1 +1 reviewed p.N47Y 1.000 63 1.6% 162 20.4% - - benign(0.091) deleterious(0) neutral(0.451) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M NPHP3 27031 genome.wustl.edu 37 3 132415574 132415574 + Splice_Site SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_153240.3 -1 reviewed e15+1 1.000 65 0% 72 40.3% - - - - - - RASA2 5922 genome.wustl.edu 37 3 141277797 141277797 + Missense_Mutation SNP G G C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_006506.2 +1 reviewed p.E252Q 1.000 39 0% 47 10.6% - - benign(0.071) tolerated(0.07) neutral(0.324) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB MUC4 4585 genome.wustl.edu 37 3 195517748 195517748 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_018406.5 -1 reviewed p.V235I 0.000 157 0% 253 37.2% - - benign(0.382) tolerated(0.19) neutral(0.171) NULL KIAA1211 57482 genome.wustl.edu 37 4 57180353 57180353 + Nonsense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_020722.1 +1 validated p.R229* 1.000 23 0% 38 18.4% - - - - - NULL ANTXR2 118429 genome.wustl.edu 37 4 80990624 80990624 + Missense_Mutation SNP G G T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001145794.1 -1 reviewed p.Q88K 1.000 50 0% 72 22.2% - - possibly_damaging(0.93) tolerated(0.38) neutral(0.394) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TBC1D9 23158 genome.wustl.edu 37 4 141607579 141607579 + Missense_Mutation SNP C C G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_015130.2 -1 validated p.W93C 1.000 110 0% 73 83.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRG1 2483 genome.wustl.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_004477.2 +1 reviewed p.E86in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Actin-crosslinking proteins,HMMPfam_FRG1 BRIX1 55299 genome.wustl.edu 37 5 34925519 34925519 + Silent SNP T T A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_018321.3 +1 validated p.V327 0.005 30 0% 73 32.9% - - - - - NULL FGFR4 2264 genome.wustl.edu 37 5 176517941 176517941 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_002011.3 +1 reviewed p.P147S 1.000 25 0% 38 44.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Immunoglobulin SYCP2L 221711 genome.wustl.edu 37 6 10961744 10961744 + Silent SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001040274.2 +1 validated p.G789 0.430 86 0% 124 48.4% - - - - - NULL CDSN 1041 genome.wustl.edu 37 6 31084943 31084945 + In_Frame_Del DEL CTT CTT - rs140128746 byCluster;by1000genomes TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001264.3 -1 reviewed p.S153in_frame_del 0.093:0.082:0.059 - - - - - - - - - NULL ABHD16A 7920 genome.wustl.edu 37 6 31660901 31660901 + Missense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_021160.2 -1 reviewed p.R177C 0.948 17 0% 27 48.1% - - benign(0) tolerated(0.22) neutral(0.042) NULL ETV7 51513 genome.wustl.edu 37 6 36339110 36339110 + Missense_Mutation SNP C C G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_016135.2 -1 provisional p.A221P 0.833 14 0% 21 42.9% - - benign(0.024) tolerated(0.08) neutral(0.301) "superfamily_""Winged helix"" DNA-binding domain" EYS 346007 genome.wustl.edu 37 6 65149235 65149235 + Nonsense_Mutation SNP A A T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001142800.1 -1 reviewed p.C1885* 0.022 24 0% 33 42.4% - - - - - superfamily_Concanavalin A-like lectins/glucanases MANEA 79694 genome.wustl.edu 37 6 96034881 96034882 + Frame_Shift_Ins INS - - TATG rs78175628 TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 ENST00000369293 +1 known p.V190fs 0.000:0.000 - - - - - - - - - NULL NOX3 50508 genome.wustl.edu 37 6 155728362 155728362 + Silent SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_015718.2 -1 reviewed p.D494 0.998 99 0% 131 15.3% - - - - - HMMPfam_NAD_binding_6,superfamily_SSF52343 MAD1L1 8379 genome.wustl.edu 37 7 1938014 1938014 + Missense_Mutation SNP T T C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001013836.1 -1 reviewed p.Q607R 1.000 58 0% 83 21.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MAD ENSG00000245043 0 genome.wustl.edu 37 7 64534207 64534208 + RNA DEL TG TG - rs147092229 TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 ENST00000501153 -1 known NULL 1.000:1.000 - - - - - - - - - - PPP1R3A 5506 genome.wustl.edu 37 7 113519095 113519095 + Silent SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_002711.3 -1 reviewed p.D684 0.157 92 0% 98 40.8% - - - - - NULL UNC5D 137970 genome.wustl.edu 37 8 35579805 35579805 + Missense_Mutation SNP G G T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_080872.2 +1 validated p.G399C 1.000 103 1% 79 79.7% - - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL TGS1 96764 genome.wustl.edu 37 8 56725612 56725612 + Missense_Mutation SNP A A G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_024831.6 +1 validated p.R792G 1.000 67 1.5% 91 45.1% - - - - - HMMPfam_Methyltransf_15 ZFHX4 79776 genome.wustl.edu 37 8 77616659 77616659 + Silent SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_024721.4 +1 validated p.N112 1.000 42 0% 77 36.4% - - - - - NULL PKN3 29941 genome.wustl.edu 37 9 131480644 131480644 + Frame_Shift_Del DEL C C - novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_013355.3 +1 validated p.H676fs 1.000 - - - - - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DCLRE1C 64421 genome.wustl.edu 37 10 14950819 14950819 + Missense_Mutation SNP T T C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001033855.1 -1 reviewed p.D556G 0.997 73 0% 99 42.4% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL NRP1 8829 genome.wustl.edu 37 10 33510750 33510750 + Silent SNP T T C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_003873.5 -1 validated p.A393 0.925 97 0% 109 51.4% - - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like RPL27A 6157 genome.wustl.edu 37 11 8706403 8706403 + Missense_Mutation SNP G G C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_000990.4 +1 reviewed p.K94N 0.774 98 0% 86 52.3% - - benign(0.215) tolerated(0.16) neutral(0.081) superfamily_Ribosomal proteins L15p and L18e PAMR1 25891 genome.wustl.edu 37 11 35457472 35457472 + Missense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_015430.2 -1 validated p.R455W 1.000 23 0% 38 50% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SPTBN2 6712 genome.wustl.edu 37 11 66453553 66453553 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_006946.2 -1 reviewed p.R2321Q 1.000 8 0.000 19 0.211 - - benign(0.103) tolerated(1) neutral(0.008) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KRAS 3845 genome.wustl.edu 37 12 25398250 25398250 + Silent SNP T T C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_033360.2 -1 reviewed p.L23 1.000 44 0% 81 55.6% - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SCN8A 6334 genome.wustl.edu 37 12 52167974 52167974 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_014191.2 +1 reviewed p.A1216V 1.000 55 0% 56 46.4% - - benign(0.036) deleterious(0) neutral(0.447) superfamily_Voltage-gated potassium channels PLXNC1 10154 genome.wustl.edu 37 12 94543466 94543466 + Nonsense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_005761.1 +1 provisional p.W240* 1.000 13 0% 16 25% - - - - - superfamily_Sema ANKS1B 56899 genome.wustl.edu 37 12 99201692 99201692 + Missense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_181670.2 -1 validated p.S249L 1.000 63 0% 69 37.7% - - benign(0) tolerated(0.25) neutral(0.037) NULL ULK3 25989 genome.wustl.edu 37 15 75134689 75134689 + Missense_Mutation SNP G G C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001099436.1 -1 validated p.L59V 1.000 102 0% 99 11.1% - - benign(0.393) tolerated(0.06) neutral(0.449) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DNAJA4 55466 genome.wustl.edu 37 15 78568052 78568052 + Missense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_018602.3 +1 validated p.V316I 0.064 94 0% 83 72.3% - - benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep EFTUD1 79631 genome.wustl.edu 37 15 82444189 82444189 + Missense_Mutation SNP A A G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_024580.5 -1 validated p.I869T 1.000 37 0% 57 10.5% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_EFG_IV,superfamily_Ribosomal protein S5 domain 2-like SV2B 9899 genome.wustl.edu 37 15 91795210 91795210 + Nonsense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_014848.4 +1 validated p.R205* 1.000 36 0% 68 19.1% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ITFG1 81533 genome.wustl.edu 37 16 47485371 47485371 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_030790.3 -1 provisional p.D166N 1.000 86 0% 79 22.8% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_SSF69318 TP53 7157 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_000546.4 -1 reviewed p.V173L 0.996 18 0% 25 80% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_p53-like transcription factors,HMMPfam_P53 CNTROB 116840 genome.wustl.edu 37 17 7840526 7840526 + Silent SNP C C A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 ENST00000380262 +1 known p.A291 1.000 29 0% 35 60% - - - - - NULL ENSG00000232457 0 genome.wustl.edu 37 17 62950262 62950262 + Missense_Mutation SNP T T G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 ENST00000413214 +1 known p.I7M 0.008 31 0% 93 96.8% - - possibly_damaging(0.437) tolerated(0.1) neutral(0.429) superfamily_MFS general substrate transporter SLC25A10 1468 genome.wustl.edu 37 17 79682051 79682051 + Silent SNP C C T rs3204270 byCluster;byFrequency;by1000genomes TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_012140.3 +1 provisional p.T54 0.000 11 18.2% 15 100% - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC14A1 6563 genome.wustl.edu 37 18 43329802 43329802 + Missense_Mutation SNP G G T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001128588.3 +1 reviewed p.M408I 1.000 60 0% 115 51.3% - - benign(0.003) tolerated(0.27) neutral(0.034) HMMPfam_UT C19orf26 255057 genome.wustl.edu 37 19 1236002 1236002 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_152769.2 -1 validated p.R27H 0.069 25 0% 12 50% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ACSBG2 81616 genome.wustl.edu 37 19 6183087 6183087 + Missense_Mutation SNP A A G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_030924.3 +1 validated p.T376A 0.001 25 0% 16 56.2% - - benign(0.001) tolerated(0.87) neutral(0.001) HMMPfam_AMP-binding,superfamily_SSF56801 ZNF30 90075 genome.wustl.edu 37 19 35422781 35422781 + Missense_Mutation SNP C C A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001099437.1 +1 validated p.T15K 0.933 59 0% 103 43.7% - - possibly_damaging(0.605) deleterious(0.04) deleterious(0.558) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC100289396 100289396 genome.wustl.edu 37 19 39308073 39308073 + Frame_Shift_Del DEL C C - novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 XM_002343679.1 +1 model p.Q86fs 0.034 - - - - - - - - - NULL CKM 1158 genome.wustl.edu 37 19 45810883 45810883 + Missense_Mutation SNP C C T novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001824.2 -1 reviewed p.G268D 1.000 34 0% 41 43.9% - - benign(0.054) deleterious(0.03) neutral(0.368) HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 ERCC2 2068 genome.wustl.edu 37 19 45868137 45868137 + Missense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_000400.3 -1 reviewed p.R185W 0.909 17 0% 43 37.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_DEXDc2,HMMPfam_DEAD_2,superfamily_SSF52540 PPP2R1A 5518 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_014225.5 +1 reviewed p.P179R 1.000 24 0% 18 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat SLC12A5 57468 genome.wustl.edu 37 20 44671940 44671940 + Silent SNP C C A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001134771.1 +1 reviewed p.G428 1.000 38 0% 52 73.1% - - - - - HMMPfam_AA_permease RRP1B 23076 genome.wustl.edu 37 21 45111378 45111378 + Missense_Mutation SNP C C A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_015056.2 +1 validated p.T693N 0.999 45 0% 75 64% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RANBP1 5902 genome.wustl.edu 37 22 20106594 20106594 + Missense_Mutation SNP C C G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_002882.2 +1 reviewed p.P25R 1.000 41 0% 47 21.3% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_SSF50729 PATZ1 23598 genome.wustl.edu 37 22 31723094 31723094 + Missense_Mutation SNP G G C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_014323.2 -1 reviewed p.S616C 1.000 44 0% 94 26.6% - - benign(0.132) tolerated(0.17) neutral(0.070) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PATZ1 23598 genome.wustl.edu 37 22 31740598 31740598 + Missense_Mutation SNP G G C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_014323.2 -1 reviewed p.L331V 0.680 14 0% 39 38.5% - - possibly_damaging(0.466) tolerated(0.11) neutral(0.424) NULL ENSG00000198888 0 genome.wustl.edu 37 MT 3882 3882 + Silent SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 ENST00000361390 +1 known p.E192 NULL 122 0% 175 98.3% - - - - - HMMPfam_NADHdh GLRA2 2742 genome.wustl.edu 37 X 14625253 14625253 + Missense_Mutation SNP T T G novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_001118885.1 +1 reviewed p.F193C 1.000 100 0% 139 30.9% - - possibly_damaging(0.713) deleterious(0) deleterious(0.702) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like DMD 1756 genome.wustl.edu 37 X 32328242 32328242 + Missense_Mutation SNP G G A novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_004006.2 -1 reviewed p.A2025V 1.000 51 0% 79 10.1% - - benign(0.273) tolerated(0.25) neutral(0.066) HMMPfam_Spectrin,HMMSmart_SM00150 APOOL 139322 genome.wustl.edu 37 X 84309354 84309354 + Missense_Mutation SNP T T C novel TCGA-EY-A212-01A-11D-A14K-09 TCGA-EY-A212-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8dae60a-cd70-48ed-96c7-f41ab656b512 78f82aa9-9852-4387-a2b2-7ac00e2bb140 NM_198450.4 +1 validated p.V82A 0.025 297 0% 371 15.9% - - benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_ApoO