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 AMY2B 280 genome.wustl.edu 37 1 104121954 104121954 + Silent SNP A A G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_020978.3 +1 reviewed p.Q456 1.000 245 0.4% 279 11.1% - - - - - HMMPfam_Alpha-amylase_C,HMMSmart_SM00632,superfamily_Glycosyl hydrolase domain RBM15 64783 genome.wustl.edu 37 1 110883432 110883433 + Frame_Shift_Del DEL GC GC - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_022768.4 +1 validated p.A469fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD TPR 7175 genome.wustl.edu 37 1 186319501 186319501 + Frame_Shift_Del DEL T T - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_003292.2 -1 reviewed p.K877fs 1.000 - - - - - - - - - NULL ACTR1B 10120 genome.wustl.edu 37 2 98276021 98276041 + Splice_Site DEL CCTCACCTGCCCTGACCAGAA CCTCACCTGCCCTGACCAGAA - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 CCTCACCTGCCCTGACCAGAA CCTCACCTGCCCTGACCAGAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000460427 -1 known NULL 0.001:0.024 - - - - - - - - - - MYO7B 4648 genome.wustl.edu 37 2 128363482 128363482 + Nonsense_Mutation SNP C C A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001080527.1 +1 provisional p.C801* 0.001 32 0% 39 48.7% - - - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases PRKRA 8575 genome.wustl.edu 37 2 179315735 179315736 + Frame_Shift_Del DEL GC GC - rs141354030 by1000genomes TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_003690.4 -1 reviewed p.A8fs 0.987:0.993 - - - - - - - - - NULL RNF25 64320 genome.wustl.edu 37 2 219529490 219529490 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_022453.2 -1 reviewed p.R258Q 1.000 43 0% 61 19.7% - - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) NULL GBX2 2637 genome.wustl.edu 37 2 237074616 237074616 + Missense_Mutation SNP G G T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001485.2 -1 validated p.H330N 1.000 30 0% 34 58.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTERFD2 130916 genome.wustl.edu 37 2 242035742 242035742 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_182501.3 -1 validated p.R273W 0.998 44 0% 65 15.4% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_mTERF,HMMSmart_SM00733 EEFSEC 60678 genome.wustl.edu 37 3 127981029 127981029 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_021937.3 +1 validated p.E195K 1.000 31 0% 32 12.5% - - probably_damaging(0.983) tolerated(0.79) neutral(0.430) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases SIAH2 6478 genome.wustl.edu 37 3 150460072 150460072 + Silent SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_005067.5 -1 reviewed p.E277 1.000 37 0% 32 50% - - - - - superfamily_Traf_like,HMMPfam_Sina KIAA1530 57654 genome.wustl.edu 37 4 1373921 1373921 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_020894.2 +1 validated p.R552H 0.998 16 0% 11 45.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF2043 POU4F2 5458 genome.wustl.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs72269802 TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 GGCGGCGGC GGCGGCGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_004575.2 +1 validated p.GGG59in_frame_del 0.992:0.990:0.987:0.986:0.984:0.983:0.983:0.983:0.983 - - - - - - - - - NULL FBXW7 55294 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_033632.2 -1 reviewed p.R465H 1.000 59 0% 59 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HSPA4 3308 genome.wustl.edu 37 5 132440088 132440088 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_002154.3 +1 validated p.S828L 0.596 24 0% 26 46.2% - - benign(0.014) tolerated(0.09) neutral(0.297) NULL SLC26A2 1836 genome.wustl.edu 37 5 149360446 149360446 + Silent SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_000112.3 +1 reviewed p.F430 1.000 47 0% 39 38.5% - - - - - HMMPfam_Sulfate_transp GFOD1 54438 genome.wustl.edu 37 6 13365049 13365049 + Nonsense_Mutation SNP C C A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_018988.2 -1 provisional p.E367* 1.000 22 0% 33 30.3% - - - - - NULL BMP5 653 genome.wustl.edu 37 6 55638948 55638948 + Missense_Mutation SNP T T A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_021073.2 -1 reviewed p.E309V 1.000 76 0% 117 11.1% - - benign(0.01) deleterious(0.01) neutral(0.406) NULL POPDC3 64208 genome.wustl.edu 37 6 105605887 105605890 + RNA DEL AAAT AAAT - rs142753011 byCluster;by1000genomes TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NR_024539.1 -1 validated NULL 0.992:0.951:0.535:0.481 - - - - - - - - - - AKD1 221264 genome.wustl.edu 37 6 109906330 109906332 + Splice_Site DEL CTT CTT - rs72285221 byCluster;by1000genomes TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000368948 -1 known e18+2 0.004:0.003:0.004 - - - - - - - - - - COL28A1 340267 genome.wustl.edu 37 7 7421233 7421233 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001037763.2 -1 validated p.G716E 1.000 44 0% 43 23.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL H2AFV 94239 genome.wustl.edu 37 7 44880574 44880574 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_012412.4 -1 reviewed p.R40H 1.000 32 0% 37 16.2% - - benign(0.138) deleterious(0.02) neutral(0.395) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold GIGYF1 64599 genome.wustl.edu 37 7 100285618 100285618 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_022574.4 -1 validated p.V51I 0.017 41 0% 36 19.4% - - benign(0.15) tolerated(0.81) neutral(0.013) NULL LRRC4 64101 genome.wustl.edu 37 7 127669351 127669351 + Missense_Mutation SNP G G T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_022143.4 -1 validated p.T448N 1.000 37 0% 65 12.3% - - benign(0.025) tolerated(0.31) neutral(0.028) NULL CASP2 835 genome.wustl.edu 37 7 142997096 142997096 + Frame_Shift_Del DEL G G - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_032982.2 +1 reviewed p.H277fs 0.277 - - - - - - - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,PatternScan_CASPASE_HIS,superfamily_Caspase-like ZNF517 340385 genome.wustl.edu 37 8 146029047 146029047 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_213605.2 +1 validated p.V19M 0.276 90 0% 127 15% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) KIAA0020 9933 genome.wustl.edu 37 9 2833374 2833374 + Nonsense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_014878.4 -1 validated p.Q167* 1.000 126 0% 84 76.2% - - - - - HMMSmart_SM00025,superfamily_ARM repeat LINGO2 158038 genome.wustl.edu 37 9 27948972 27948972 + Missense_Mutation SNP C C A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_152570.1 -1 provisional p.W566C 1.000 40 0% 27 55.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LINGO2 158038 genome.wustl.edu 37 9 27948973 27948973 + Missense_Mutation SNP C C G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_152570.1 -1 provisional p.W566S 1.000 40 0% 26 53.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ST6GALNAC4 27090 genome.wustl.edu 37 9 130670756 130670756 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_175039.3 -1 reviewed p.R275H 1.000 19 0% 12 83.3% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Glyco_transf_29 PKN3 29941 genome.wustl.edu 37 9 131480610 131480610 + Nonsense_Mutation SNP C C G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_013355.3 +1 validated p.Y664* 1.000 64 0% 36 80.6% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CELP 1057 genome.wustl.edu 37 9 135962459 135962491 + Splice_Site DEL TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000421286 +1 known NULL 0.000:0.003:0.011:0.006:0.007:0.000:0.000:0.000:0.000:0.009:0.050:0.034:0.026:0.020:0.015:0.001:0.000:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - - CCDC6 8030 genome.wustl.edu 37 10 61612347 61612349 + In_Frame_Del DEL TTC TTC - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_005436.3 -1 validated p.E139in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_DUF2046 EBF3 253738 genome.wustl.edu 37 10 131638578 131638578 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001005463.1 -1 validated p.A519T 1.000 16 0% 31 54.8% - - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) NULL EEF1G 1937 genome.wustl.edu 37 11 62339344 62339344 + Silent SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001404.4 -1 reviewed p.F67 1.000 30 0% 60 16.7% - - - - - HMMPfam_GST_N,superfamily_Thioredoxin-like C11orf80 79703 genome.wustl.edu 37 11 66512290 66512291 + In_Frame_Ins INS - - GGC novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_024650.3 +1 validated p.30in_frame_insA 0.001:0.003 - - - - - - - - - NULL PHLDB1 23187 genome.wustl.edu 37 11 118518777 118518777 + Missense_Mutation SNP G G T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001144758.1 +1 validated p.E1213D 1.000 91 0% 168 88.7% - - benign(0.176) tolerated(0.07) neutral(0.335) NULL WDR66 144406 genome.wustl.edu 37 12 122359398 122359399 + In_Frame_Ins INS - - AGGGGGAGGAGAAAG rs67558673 TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_144668.4 +1 validated p.64in_frame_insGEEKE 0.000:0.000 - - - - - - - - - superfamily_WD40 repeat-like CCDC169 728591 genome.wustl.edu 37 13 36822804 36822804 + Missense_Mutation SNP G G C novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001144981.1 -1 validated p.Q162E 0.011 73 0% 35 28.6% - - possibly_damaging(0.63) tolerated(0.32) neutral(0.244) NULL PSME1 5720 genome.wustl.edu 37 14 24606936 24606936 + Missense_Mutation SNP A A G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_176783.1 +1 reviewed p.N107S 1.000 61 0% 68 13.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PA28_beta,superfamily_Prot_act_regA RNF31 55072 genome.wustl.edu 37 14 24624677 24624677 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_017999.4 +1 validated p.E787K 1.000 45 0% 54 20.4% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00647 ARHGAP5 394 genome.wustl.edu 37 14 32560296 32560296 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001030055.1 +1 reviewed p.E141K 1.000 20 0% 23 21.7% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KTN1 3895 genome.wustl.edu 37 14 56118638 56118638 + Missense_Mutation SNP C C G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001079521.1 +1 validated p.Q866E 1.000 66 0% 92 28.3% - - probably_damaging(0.978) tolerated(0.21) neutral(0.464) superfamily_Spectrin repeat ENSG00000235812 0 genome.wustl.edu 37 14 70713721 70713723 + In_Frame_Del DEL ATC ATC - rs34309925 byCluster;by1000genomes TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000433248 -1 known p.D49in_frame_del 0.215:0.021:0.005 - - - - - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" XYLT1 64131 genome.wustl.edu 37 16 17353038 17353038 + Silent SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_022166.3 -1 reviewed p.R240 1.000 19 0% 29 17.2% - - - - - NULL PRRT2 112476 genome.wustl.edu 37 16 29824694 29824695 + Frame_Shift_Ins INS - - A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_145239.2 +1 validated p.T108fs 0.885:0.667 - - - - - - - - - NULL COG4 25839 genome.wustl.edu 37 16 70551568 70551568 + Missense_Mutation SNP C C G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_015386.2 -1 validated p.E110D 0.998 57 0% 62 12.9% - - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL TP53 7157 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 byCluster TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_000546.4 -1 reviewed p.R248W 1.000 37 0% 29 58.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 CCDC144A 9720 genome.wustl.edu 37 17 16638341 16638341 + Missense_Mutation SNP G G C novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_014695.1 +1 provisional p.R919T 0.513 19 0% 14 28.6% - - possibly_damaging(0.873) tolerated(0.1) deleterious(0.625) NULL MYO15A 51168 genome.wustl.edu 37 17 18023016 18023016 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_016239.3 +1 reviewed p.P301L 0.041 4 0.000 7 1.000 - - unknown(0) - - NULL ENSG00000228782 0 genome.wustl.edu 37 17 45567595 45567596 + Splice_Site DEL TC TC - novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000425159 -1 known e3+2 0.724 - - - - - - - - - - USP36 57602 genome.wustl.edu 37 17 76798549 76798554 + In_Frame_Del DEL TTTTTC TTTTTC - rs148052919 byCluster;by1000genomes TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 TTTTTC TTTTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_025090.3 -1 validated p.KK959in_frame_del 0.178:0.173:0.043:0.038:0.100:0.107 - - - - - - - - - NULL EIF4A3 9775 genome.wustl.edu 37 17 78110074 78110074 + Silent SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_014740.3 -1 reviewed p.L348 0.999 65 0% 54 14.8% - - - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 CHAF1A 10036 genome.wustl.edu 37 19 4422641 4422641 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_005483.2 +1 validated p.R366W 0.620 86 0% 82 39% - - unknown(0) deleterious(0.01) - NULL SIN3B 23309 genome.wustl.edu 37 19 16942395 16942395 + Silent SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_015260.1 +1 provisional p.L106 0.007 80 0% 47 12.8% - - - - - superfamily_PAH2 domain URI1 8725 genome.wustl.edu 37 19 30500119 30500121 + In_Frame_Del DEL TGA TGA - rs3840928 byCluster;by1000genomes TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_003796.2 +1 reviewed p.D302in_frame_del 0.945:0.906:0.938 - - - - - - - - - NULL CA11 770 genome.wustl.edu 37 19 49142836 49142836 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001217.3 -1 reviewed p.R204C 0.995 59 0% 49 18.4% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd LRRC4B 94030 genome.wustl.edu 37 19 51021133 51021133 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001080457.1 -1 provisional p.R613C 1.000 14 0% 11 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP5 126206 genome.wustl.edu 37 19 56538451 56538451 + Silent SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_153447.4 +1 reviewed p.L284 0.004 37 0% 35 40% - - - - - HMMPfam_NACHT,superfamily_SSF52540 SCUBE1 80274 genome.wustl.edu 37 22 43616527 43616527 + Missense_Mutation SNP T T G novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_173050.2 -1 validated p.K539T 1.000 60 0% 33 36.4% - - benign(0.004) tolerated(0.35) neutral(0.021) NULL KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 58477 58477 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000400851 +1 known p.R53H NULL 104 0% 111 37.8% - - benign(0.005) tolerated(0.29) neutral(0.029) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ENSG00000210082 0 genome.wustl.edu 37 MT 3049 3049 + RNA SNP T T C novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000387347 +1 known NULL NULL 70 0% 95 81.1% - - - - - - ENSG00000198888 0 genome.wustl.edu 37 MT 4124 4124 + Missense_Mutation SNP T T C novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000361390 +1 known p.I273T NULL 42 0% 71 95.8% - - benign(0.15) deleterious(0) neutral(0.458) HMMPfam_NADHdh FAM9A 171482 genome.wustl.edu 37 X 8768148 8768148 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_174951.3 -1 validated p.T22M 0.957 54 0% 82 29.3% - - possibly_damaging(0.915) - - NULL MID1 4281 genome.wustl.edu 37 X 10417724 10417724 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_000381.2 -1 reviewed p.P563L 0.999 41 0% 38 55.3% - - probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_SPRY,HMMSmart_SM00449 DGKK 139189 genome.wustl.edu 37 X 50118058 50118058 + Splice_Site SNP T T C novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e ENST00000376025 -1 known NULL 0.992 66 0% 70 22.9% - - - - - - ZC3H12B 340554 genome.wustl.edu 37 X 64718968 64718968 + Missense_Mutation SNP G G A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001010888.3 +1 reviewed p.D269N 1.000 44 0% 50 24% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AMOT 154796 genome.wustl.edu 37 X 112022699 112022699 + Missense_Mutation SNP C C T novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_001113490.1 -1 reviewed p.A895T 0.014 54 0% 45 37.8% - - unknown(0) tolerated(0.23) - NULL MAGEC3 139081 genome.wustl.edu 37 X 140966994 140966994 + Missense_Mutation SNP C C A novel TCGA-FI-A2EX-01A-11D-A17D-09 TCGA-FI-A2EX-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2004574f-5363-4ef2-a2a1-15c3d94d7216 5a8c11cc-edb3-4c74-a767-5ea20f18fe0e NM_138702.1 +1 reviewed p.Q98K 0.000 19 0% 19 42.1% - - unknown(0) - - NULL