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 CAMTA1 23261 genome.wustl.edu 37 1 7724479 7724479 + Silent SNP C C A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_015215.1 +1 validated p.P624 1.000 38 0% 35 57.1% 0 - - - - NULL ENSG00000245549 0 genome.wustl.edu 37 1 16950252 16950252 + RNA DEL G G - rs140356375 byCluster;by1000genomes TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000501442 +1 novel NULL 0.356 - - - - - - - - - - UBR4 23352 genome.wustl.edu 37 1 19499478 19499478 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_020765.2 -1 validated p.S1134C 1.000 111 0% 79 36.7% 0 - probably_damaging(0.982) tolerated(0.1) deleterious(0.713) NULL ENSG00000231182 0 genome.wustl.edu 37 1 142956513 142956514 + Splice_Site DEL CT CT - novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000424640 -1 known NULL 0.000:0.000 - - - - - - - - - - RYR2 6262 genome.wustl.edu 37 1 237893566 237893566 + Silent SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001035.2 +1 reviewed p.R3615 0.082 46 0% 46 60.9% 0 - - - - NULL OR2T33 391195 genome.wustl.edu 37 1 248436263 248436263 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001004695.1 -1 provisional p.P285L 0.997 208 0% 346 15.9% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NTSR2 23620 genome.wustl.edu 37 2 11800188 11800191 + Frame_Shift_Del DEL GTAC GTAC - novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 GTAC GTAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_012344.3 -1 reviewed p.V323fs 0.004:0.019:0.024:0.014 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NLRC4 58484 genome.wustl.edu 37 2 32466183 32466183 + Missense_Mutation SNP C C G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000360906 -1 known p.D757H 0.981 112 0% 140 31.4% 0 - probably_damaging(0.998) tolerated(0.4) deleterious(0.490) superfamily_RNI-like ANAPC1 64682 genome.wustl.edu 37 2 112614250 112614250 + Missense_Mutation SNP C C G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_022662.2 -1 validated p.D486H 1.000 79 0% 63 31.7% 1 0% benign(0.001) tolerated(1) - NULL NXPH2 11249 genome.wustl.edu 37 2 139429095 139429095 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_007226.2 -1 validated p.P64 0.025 143 0% 113 44.2% 0 - - - - HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 141751631 141751631 + Missense_Mutation SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_018557.2 -1 validated p.Q859H 1.000 70 0% 54 35.2% 0 - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich CCDC148 130940 genome.wustl.edu 37 2 159197152 159197152 + Missense_Mutation SNP C C G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_138803.3 -1 validated p.E98Q 1.000 15 0% 21 23.8% 1 100% benign(0.086) tolerated(0.42) neutral(0.021) NULL COL4A4 1286 genome.wustl.edu 37 2 227954623 227954623 + Missense_Mutation SNP C C A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_000092.4 -1 reviewed p.V474F 0.000 36 0% 32 46.9% 0 - possibly_damaging(0.903) tolerated(0.3) neutral(0.387) HMMPfam_Collagen TRIM71 131405 genome.wustl.edu 37 3 32932439 32932439 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001039111.1 +1 provisional p.K581N 1.000 21 0% 21 71.4% 0 - probably_damaging(0.992) tolerated(0.18) deleterious(0.504) HMMSmart_IG_FLMN ZNF620 253639 genome.wustl.edu 37 3 40558259 40558259 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_175888.2 +1 validated p.Y392H 0.018 87 0% 85 40% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MITF 4286 genome.wustl.edu 37 3 70014149 70014149 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_198159.2 +1 reviewed p.C438F 1.000 140 0% 86 41.9% 3 0% possibly_damaging(0.446) tolerated(0.71) neutral(0.147) NULL MMRN1 22915 genome.wustl.edu 37 4 90856185 90856185 + Missense_Mutation SNP A A T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_007351.2 +1 reviewed p.T452S 0.926 112 0% 54 50% 0 - probably_damaging(0.996) tolerated(0.16) deleterious(0.521) NULL CDH10 1008 genome.wustl.edu 37 5 24537633 24537633 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_006727.2 -1 reviewed p.R128C 0.996 92 0% 72 40.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin LOC100131573 100131573 genome.wustl.edu 37 5 93928566 93928566 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 XM_001716404.1 +1 model p.R72* 0.034 49 0% 17 94.1% 0 - - - - NULL FBN2 2201 genome.wustl.edu 37 5 127728953 127728953 + Missense_Mutation SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001999.3 -1 reviewed p.N447I 1.000 56 0% 41 26.8% 1 100% probably_damaging(0.955) tolerated(0.19) neutral(0.448) superfamily_Concanavalin A-like lectins/glucanases ADAMTS19 171019 genome.wustl.edu 37 5 128977649 128977649 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_133638.3 +1 reviewed p.G617V 1.000 94 0% 95 26.3% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMSmart_SM00608 PCDHAC1 56135 genome.wustl.edu 37 5 140307229 140307229 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_018898.3 +1 reviewed p.V251A 0.879 55 0% 46 30.4% 0 - possibly_damaging(0.706) deleterious(0) deleterious(0.699) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308131 140308131 + Missense_Mutation SNP T T G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_018898.3 +1 reviewed p.Y552D 0.071 159 0% 110 39.1% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140735431 140735431 + Missense_Mutation SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_018917.2 +1 reviewed p.R222C 0.666 23 0% 19 26.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RNF14 9604 genome.wustl.edu 37 5 141367317 141367317 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_004290.3 +1 reviewed p.V463F 0.991 51 0% 49 44.9% 12 41.6% unknown(0) deleterious(0.03) - NULL FAM71B 153745 genome.wustl.edu 37 5 156593110 156593110 + Missense_Mutation SNP A A G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_130899.2 -1 validated p.S24P 1.000 65 0% 76 36.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZNF323 64288 genome.wustl.edu 37 6 28295209 28295209 + Silent SNP C C G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001135215.1 -1 validated p.V161 0.802 93 0% 77 33.8% 0 - - - - NULL TNXB 7148 genome.wustl.edu 37 6 32052397 32052397 + Silent SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_019105.6 -1 reviewed p.L1080 0.137 24 0% 25 40% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GUCA1A 2978 genome.wustl.edu 37 6 42146577 42146616 + Frame_Shift_Del DEL TGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGAT TGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGAT - novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 TGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGAT TGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_000409.3 +1 reviewed p.A132fs 1.000:0.998:0.897:0.079:0.054:0.926:0.932:0.005:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.023:0.031:0.041:0.013:0.011:0.004:0.003:0.992:1.000:1.000:1.000:1.000:0.998:0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.998 - - - - - - - - - superfamily_EF-hand PRSS35 167681 genome.wustl.edu 37 6 84233443 84233443 + Missense_Mutation SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_153362.2 +1 validated p.L95I 0.986 120 0% 106 39.6% 0 - possibly_damaging(0.794) tolerated(0.43) neutral(0.311) NULL MAP3K5 4217 genome.wustl.edu 37 6 136913382 136913382 + Missense_Mutation SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_005923.3 -1 reviewed p.A1052T 1.000 166 0% 116 45.7% 3 0% possibly_damaging(0.811) tolerated(0.7) neutral(0.307) NULL GARS 2617 genome.wustl.edu 37 7 30651839 30651839 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_002047.2 +1 reviewed p.R337* 1.000 82 0% 72 37.5% 4 0% - - - HMMPfam_tRNA-synt_2b,superfamily_Class II aaRS and biotin synthetases PDE1C 5137 genome.wustl.edu 37 7 31918701 31918701 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_005020.1 -1 provisional p.T111 0.007 51 0% 46 41.3% 0 - - - - HMMPfam_PDEase_I_N FAM71F1 84691 genome.wustl.edu 37 7 128363285 128363285 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_032599.2 +1 validated p.S241T 0.989 225 0% 231 43.7% 0 - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL GEM 2669 genome.wustl.edu 37 8 95272420 95272420 + Silent SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_005261.3 -1 reviewed p.S104 1.000 27 0% 34 20.6% 8 0% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases CCNE2 9134 genome.wustl.edu 37 8 95895054 95895054 + Missense_Mutation SNP C C A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_057749.1 -1 reviewed p.A300S 1.000 55 0% 108 33.3% 2 100% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Cyclin_C FAM108B1 51104 genome.wustl.edu 37 9 74489785 74489785 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_016014.2 -1 validated p.T71I 1.000 103 0% 82 36.6% 0 - possibly_damaging(0.908) tolerated(0.4) neutral(0.378) superfamily_SSF53474 FAM22G 441457 genome.wustl.edu 37 9 99694092 99694092 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001045477.2 +1 validated p.P35 0.000 17 0% 14 71.4% 0 - - - - NULL SCAI 286205 genome.wustl.edu 37 9 127762185 127762185 + Missense_Mutation SNP T T G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_173690.4 -1 reviewed p.H433P 1.000 182 0% 76 60.5% 0 - benign(0.152) tolerated(0.18) neutral(0.070) NULL DNMBP 23268 genome.wustl.edu 37 10 101654735 101654735 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_015221.2 -1 validated p.R1042* 1.000 62 0% 48 41.7% 0 - - - - HMMPfam_BAR,HMMSmart_SM00721 MS4A6A 64231 genome.wustl.edu 37 11 59949083 59949083 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_152852.1 -1 reviewed p.H40Y 0.000 111 0% 171 29.2% 14 0% benign(0) tolerated(1) - NULL ALG8 79053 genome.wustl.edu 37 11 77812076 77812076 + Nonsense_Mutation SNP A A C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_024079.4 -1 reviewed p.Y505* 1.000 112 0% 171 29.8% 108 30.5% - - - HMMPfam_Alg6_Alg8 MMP12 4321 genome.wustl.edu 37 11 102742573 102742573 + Missense_Mutation SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000326227 -1 known p.T154S 0.000 38 0% 34 38.2% 0 - - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" KBTBD3 143879 genome.wustl.edu 37 11 105924880 105924880 + Missense_Mutation SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_152433.3 -1 validated p.H179L 0.979 27 0% 30 60% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_BACK ARHGAP20 57569 genome.wustl.edu 37 11 110451139 110451139 + Missense_Mutation SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_020809.2 -1 validated p.R844H 1.000 99 0% 60 43.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP20 57569 genome.wustl.edu 37 11 110457042 110457042 + Missense_Mutation SNP A A C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_020809.2 -1 validated p.L438R 1.000 71 0% 60 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SRPR 6734 genome.wustl.edu 37 11 126134890 126134890 + Missense_Mutation SNP C C G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_003139.3 -1 reviewed p.D497H 1.000 14 0% 20 45% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRP54,HMMSmart_AAA,superfamily_SSF52540 NTF3 4908 genome.wustl.edu 37 12 5603520 5603520 + Missense_Mutation SNP A A C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001102654.1 +1 reviewed p.K60T 1.000 73 0% 50 34% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CD163 9332 genome.wustl.edu 37 12 7640165 7640165 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_004244.4 -1 validated p.I614V 0.992 128 0% 106 38.7% 0 - benign(0.006) tolerated(0.09) neutral(0.296) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like NELL2 4753 genome.wustl.edu 37 12 44913897 44913897 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001145107.1 -1 reviewed p.T814S 1.000 31 0% 50 24% 2 0% benign(0.001) tolerated(0.23) neutral(0.042) NULL IL22 50616 genome.wustl.edu 37 12 68646604 68646604 + Silent SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_020525.4 -1 validated p.S64 0.458 95 0% 84 38.1% 0 - - - - superfamily_4_helix_cytokine STAB2 55576 genome.wustl.edu 37 12 104111551 104111551 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_017564.9 +1 reviewed p.A1539P 0.264 118 0% 54 66.7% 0 - benign(0.299) tolerated(0.14) neutral(0.342) HMMSmart_EGF,superfamily_SSF57196 ENSG00000197041 0 genome.wustl.edu 37 12 104424698 104424698 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000355965 +1 known p.A48T 1.000 78 0% 41 43.9% 2 0% - - - HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like EP400 57634 genome.wustl.edu 37 12 132496063 132496063 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_015409.3 +1 validated p.V1108L 0.970 78 0% 74 43.2% 0 - unknown(0) - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 KIAA0564 23078 genome.wustl.edu 37 13 42335297 42335297 + Missense_Mutation SNP A A G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_015058.1 -1 validated p.L798P 1.000 139 0% 110 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases TSC22D1 8848 genome.wustl.edu 37 13 45010200 45010200 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_183422.2 -1 validated p.N982D 1.000 24 0% 20 50% 25 12% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL UCHL3 7347 genome.wustl.edu 37 13 76164074 76164076 + In_Frame_Del DEL TCC TCC - rs35701234 byCluster;by1000genomes TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000377589 +1 known p.S118in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases FRMD6 122786 genome.wustl.edu 37 14 52156603 52156603 + Missense_Mutation SNP A A T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001042481.1 +1 validated p.S17C 1.000 44 0% 26 50% 1 0% benign(0.001) tolerated(0.21) neutral(0.044) HMMSmart_B41,superfamily_SSF54236 FRMD6 122786 genome.wustl.edu 37 14 52156604 52156604 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001042481.1 +1 validated p.S17I 1.000 44 0% 26 46.2% 1 0% benign(0.036) tolerated(0.28) neutral(0.034) HMMSmart_B41,superfamily_SSF54236 DACT1 51339 genome.wustl.edu 37 14 59113174 59113174 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_016651.5 +1 validated p.K611N 1.000 12 0% 10 40% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SYT16 83851 genome.wustl.edu 37 14 62542072 62542072 + Missense_Mutation SNP C C G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_031914.2 +1 validated p.S319C 0.997 191 0% 133 39.1% 0 - probably_damaging(0.989) tolerated(0.05) deleterious(0.785) NULL ESR2 2100 genome.wustl.edu 37 14 64727336 64727336 + Silent SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001437.2 -1 reviewed p.D261 0.000 23 0% 22 27.3% 0 - - - - superfamily_Nuclear receptor ligand-binding domain ENSG00000235812 0 genome.wustl.edu 37 14 70713023 70713023 + Missense_Mutation SNP C C A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000433248 -1 known p.C282F 1.000 77 0% 60 35% 0 - - - - HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1 NUMB 8650 genome.wustl.edu 37 14 73743473 73743473 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001005743.1 -1 reviewed p.N590S 1.000 25 0% 25 28% 12 41.6% probably_damaging(0.997) tolerated(0.19) deleterious(0.516) NULL RIN3 79890 genome.wustl.edu 37 14 93043774 93043774 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_024832.3 +1 validated p.E107K 0.004 114 0% 76 31.6% 0 - unknown(0) tolerated(0.62) - HMMSmart_SM00252,superfamily_SH2 domain AHNAK2 113146 genome.wustl.edu 37 14 105418865 105418865 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_138420.2 -1 validated p.L975V 0.000 51 0% 56 46.4% 1 0% benign(0.028) tolerated(0.57) neutral(0.007) NULL LOC283685 283685 genome.wustl.edu 37 15 23685542 23685542 + Frame_Shift_Del DEL T T - novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 XM_002343322.1 -1 model p.E624fs 0.014 - - - - - - - - - NULL LOC728310 728310 genome.wustl.edu 37 15 29088998 29088998 + RNA SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 XR_078490.1 -1 model NULL 0.004 7 0.000 17 0.529 0 - - - - - CERS3 204219 genome.wustl.edu 37 15 101016357 101016357 + Silent SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_178842.3 -1 validated p.Y181 1.000 79 0% 45 60% 0 - - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 C16orf72 29035 genome.wustl.edu 37 16 9210688 9210688 + Silent SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_014117.2 +1 validated p.G249 1.000 214 0% 203 40.4% 4 0% - - - NULL PDILT 204474 genome.wustl.edu 37 16 20410535 20410535 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_174924.1 -1 provisional p.S30G 0.000 64 0% 64 34.4% 0 - benign(0.004) tolerated(0.05) neutral(0.345) NULL ACSM5 54988 genome.wustl.edu 37 16 20422865 20422865 + Missense_Mutation SNP G G A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_017888.2 +1 validated p.C20Y 0.004 29 0% 30 43.3% 0 - benign(0.141) tolerated(0.83) neutral(0.013) NULL PRR14 78994 genome.wustl.edu 37 16 30666676 30666676 + Missense_Mutation SNP G G T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_024031.2 +1 provisional p.G417C 0.410 44 0% 35 34.3% 34 41.1% benign(0.005) deleterious(0.01) neutral(0.406) NULL CES5A 221223 genome.wustl.edu 37 16 55905582 55905582 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001143685.1 -1 validated p.L124 0.995 48 2.1% 23 65.2% 0 - - - - HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases HPR 3250 genome.wustl.edu 37 16 72110762 72110762 + Missense_Mutation SNP A A C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_020995.3 +1 validated p.N277H 0.242 134 0.7% 46 17.4% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TP53 7157 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_000546.4 -1 reviewed p.H193R 0.998 70 0% 37 62.2% 6 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_p53-like transcription factors,HMMPfam_P53 MYH4 4622 genome.wustl.edu 37 17 10352298 10352298 + Silent SNP A A C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_017533.2 -1 validated p.A1416 0.989 56 0% 21 66.7% 0 - - - - HMMPfam_Myosin_tail_1 BIRC5 332 genome.wustl.edu 37 17 76210804 76210804 + Missense_Mutation SNP C C A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001012271.1 +1 reviewed p.P52Q 0.997 4 0.000 11 0.364 21 47.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_BIR,HMMSmart_BIR,superfamily_SSF57924 ANKRD12 23253 genome.wustl.edu 37 18 9254507 9254507 + Silent SNP A A G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_015208.3 +1 validated p.K414 1.000 257 0% 214 34.1% 0 - - - - superfamily_Ankyrin repeat ZNF521 25925 genome.wustl.edu 37 18 22662578 22662578 + Silent SNP T T C rs139183776 by1000genomes TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000399425 -1 known p.Q1310 0.015 1 0.000 4 1.000 0 - - - - NULL ZNF730 100129543 genome.wustl.edu 37 19 23328362 23328362 + Silent SNP T T C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 XM_001719792.2 +1 model p.P214 0.020 26 0% 27 48.1% 0 - - - - superfamily_C2H2 and C2HC zinc fingers DPRX 503834 genome.wustl.edu 37 19 54139882 54139882 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001012728.1 +1 validated p.K72N 0.033 124 0% 53 69.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 CHD6 84181 genome.wustl.edu 37 20 40034017 40034041 + Frame_Shift_Del DEL GAAGGAGCCTTCAGGAGTTCGCTCC GAAGGAGCCTTCAGGAGTTCGCTCC - novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 GAAGGAGCCTTCAGGAGTTCGCTCC GAAGGAGCCTTCAGGAGTTCGCTCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_032221.3 -1 reviewed p.R2447fs 0.270:0.026:0.001:0.962:0.959:0.053:0.192:0.171:0.166:1.000:1.000:0.998:1.000:1.000:0.999:1.000:0.969:0.101:0.998:0.999:0.092:0.093:0.124:0.071:0.995 - - - - - - - - - NULL NCAM2 4685 genome.wustl.edu 37 21 22710759 22710759 + Missense_Mutation SNP C C A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_004540.2 +1 reviewed p.Q317K 1.000 57 0% 61 39.3% 0 - benign(0) tolerated(0.24) neutral(0.037) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 ADARB1 104 genome.wustl.edu 37 21 46640835 46640835 + Missense_Mutation SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_015833.3 +1 validated p.V651D 1.000 4 0.000 16 0.500 5 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_A_deamin,HMMSmart_SM00552 CECR2 27443 genome.wustl.edu 37 22 18021593 18021593 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 ENST00000400573 +1 known p.S628 0.559 29 0% 18 61.1% 0 - - - - NULL SLC35E4 339665 genome.wustl.edu 37 22 31042820 31042820 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001001479.2 +1 provisional p.H285 0.998 40 0% 16 56.2% 8 75% - - - HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE SREBF2 6721 genome.wustl.edu 37 22 42263157 42263157 + Silent SNP C C T novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_004599.2 +1 reviewed p.P137 0.987 98 0% 55 65.5% 0 - - - - NULL SCML2 10389 genome.wustl.edu 37 X 18266004 18266004 + Splice_Site SNP T T A novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_006089.2 -1 validated e11-2 0.056 57 0% 44 36.4% 0 - - - - - CXorf22 170063 genome.wustl.edu 37 X 35937960 35937960 + Missense_Mutation SNP G G C novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_152632.3 +1 validated p.G15A 0.108 28 0% 22 40.9% 0 - benign(0.127) - - NULL MAOB 4129 genome.wustl.edu 37 X 43655002 43655002 + Missense_Mutation SNP T T G novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_000898.4 -1 reviewed p.N251T 1.000 196 0% 208 36.5% 1 0% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MCF2 4168 genome.wustl.edu 37 X 138684637 138684637 + Frame_Shift_Del DEL A A - novel TCGA-A5-A0GJ-01A-11W-A062-09 TCGA-A5-A0GJ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92684e69-b54e-4ae5-859a-54e051e5dbcf 0fbdf4bd-75c6-48dc-b23e-8d056c466056 NM_001099855.1 -1 reviewed p.Y648fs 1.000 - - - - - - - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain