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 PLEKHN1 84069 genome.wustl.edu 37 1 908963 908963 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_032129.2 +1 validated p.P459 1.000 44 0% 64 12.5% - - - - - NULL SLC2A5 6518 genome.wustl.edu 37 1 9101841 9101841 + Nonsense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001135585.1 -1 validated p.E192* 0.689 15 0% 30 26.7% - - - - - NULL EIF4G3 8672 genome.wustl.edu 37 1 21190990 21190990 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_003760.3 -1 validated p.D939 1.000 71 0% 104 21.2% - - - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat RIMKLA 284716 genome.wustl.edu 37 1 42880384 42880384 + Silent SNP T T C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_173642.3 +1 validated p.N305 0.818 31 0% 75 28% - - - - - NULL CMPK1 51727 genome.wustl.edu 37 1 47834181 47834181 + Missense_Mutation SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_016308.2 +1 validated p.R71P 1.000 43 0% 66 18.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ADK,superfamily_SSF52540 HBXIP 10542 genome.wustl.edu 37 1 110950282 110950282 + Silent SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006402.2 -1 reviewed p.A69 0.000 25 0% 28 46.4% - - - - - NULL KCNA10 3744 genome.wustl.edu 37 1 111061091 111061094 + Frame_Shift_Del DEL ACTG ACTG - novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 ACTG ACTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_005549.2 -1 reviewed p.Q106fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold OVGP1 5016 genome.wustl.edu 37 1 111969382 111969382 + Silent SNP C C T rs142439279 by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000369728 -1 known p.R21 0.000 6 0.000 9 0.667 - - - - - NULL PHGDH 26227 genome.wustl.edu 37 1 120263915 120263915 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006623.3 +1 reviewed p.A87 0.001 37 0% 77 13% - - - - - HMMPfam_2-Hacid_dh,superfamily_Formate/glycerate dehydrogenase catalytic domain-like SMCP 4184 genome.wustl.edu 37 1 152857173 152857173 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_030663.2 +1 reviewed p.P92L 0.000 26 0% 54 22.2% - - possibly_damaging(0.877) deleterious(0) deleterious(0.786) NULL KRTCAP2 200185 genome.wustl.edu 37 1 155145054 155145054 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_173852.3 -1 validated p.K96N 1.000 57 0% 195 32.8% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Keratin_assoc SOX13 9580 genome.wustl.edu 37 1 204091086 204091086 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_005686.2 +1 reviewed p.G278 0.976 19 0% 40 50% - - - - - NULL PLEKHA6 22874 genome.wustl.edu 37 1 204217974 204217974 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_014935.2 -1 validated p.R600L 1.000 39 0% 70 28.6% - - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) NULL LPGAT1 9926 genome.wustl.edu 37 1 212002520 212002520 + Missense_Mutation SNP A A T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_014873.2 -1 validated p.V40E 0.995 42 0% 65 64.6% - - benign(0.225) deleterious(0) neutral(0.467) superfamily_Glycerol-3-phosphate (1)-acyltransferase ADCK3 56997 genome.wustl.edu 37 1 227152804 227152804 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_020247.4 +1 reviewed p.S94F 0.731 19 0% 40 17.5% - - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL AKT3 10000 genome.wustl.edu 37 1 243708888 243708888 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_005465.3 -1 reviewed p.G392E 1.000 69 0% 95 20% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MBOAT2 129642 genome.wustl.edu 37 2 9098635 9098635 + Missense_Mutation SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_138799.2 -1 validated p.C71S 1.000 30 0% 31 25.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL APOB 338 genome.wustl.edu 37 2 21224818 21224818 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000384.2 -1 reviewed p.H4492 0.456 32 0% 33 15.2% - - - - - NULL DDX18 8886 genome.wustl.edu 37 2 118586869 118586869 + Missense_Mutation SNP A A C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006773.3 +1 reviewed p.E566A 1.000 28 0% 40 32.5% - - possibly_damaging(0.727) deleterious(0.03) deleterious(0.629) superfamily_SSF52540 TFCP2L1 29842 genome.wustl.edu 37 2 122000033 122000033 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_014553.2 -1 validated p.D224N 1.000 163 0% 262 26.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CP2 LOC100289293 100289293 genome.wustl.edu 37 2 132723981 132723981 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 XM_002342261.1 -1 model p.R121W 0.088 5 0.000 9 0.667 - - - - - NULL SESTD1 91404 genome.wustl.edu 37 2 180047808 180047808 + Missense_Mutation SNP T T C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_178123.4 -1 validated p.S55G 1.000 59 0% 58 51.7% - - possibly_damaging(0.465) deleterious(0.02) deleterious(0.536) NULL CWC22 57703 genome.wustl.edu 37 2 180810182 180810182 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_020943.2 -1 validated p.A801T 0.000 116 0% 121 28.1% - - benign(0) tolerated(0.32) neutral(0.024) NULL FSIP2 401024 genome.wustl.edu 37 2 186671299 186671299 + Missense_Mutation SNP A A G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000424728 +1 known p.K5756E 0.000 35 0% 35 28.6% - - benign(0.004) deleterious(0.01) neutral(0.406) NULL KCTD18 130535 genome.wustl.edu 37 2 201371718 201371718 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_152387.2 -1 validated p.E8K 0.945 43 0% 48 18.8% - - benign(0) tolerated(0.3) neutral(0.029) NULL CASP8 841 genome.wustl.edu 37 2 202136286 202136286 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001080125.1 +1 reviewed p.R177K 0.014 87 0% 94 31.9% - - benign(0.001) tolerated(0.81) neutral(0.001) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain ZNF142 7701 genome.wustl.edu 37 2 219507593 219507593 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001105537.1 -1 validated p.E1216K 1.000 18 0% 17 29.4% - - probably_damaging(0.996) tolerated(0.28) deleterious(0.493) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HRH1 3269 genome.wustl.edu 37 3 11301158 11301158 + Silent SNP G G A rs140953941 by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000861.3 +1 reviewed p.S145 0.000 25 0% 47 25.5% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RPL14 9045 genome.wustl.edu 37 3 40503520 40503521 + In_Frame_Ins INS - - CTGCTG rs61749576 byFrequency TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001034996.1 +1 reviewed p.153in_frame_insAA 0.019:0.022 - - - - - - - - - NULL ZNF502 91392 genome.wustl.edu 37 3 44762831 44762831 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001134440.1 +1 validated p.Q174 1.000 40 0% 57 28.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DCP1A 55802 genome.wustl.edu 37 3 53326214 53326214 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_018403.5 -1 reviewed p.P423L 0.050 50 0% 105 23.8% - - - - - NULL BBX 56987 genome.wustl.edu 37 3 107497237 107497237 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001142568.1 +1 validated p.E692K 1.000 22 0% 70 22.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RETNLB 84666 genome.wustl.edu 37 3 108476024 108476024 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_032579.2 -1 validated p.P3 0.000 18 0% 45 60% - - - - - HMMPfam_Resistin PHLDB2 90102 genome.wustl.edu 37 3 111632168 111632168 + Missense_Mutation SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001134438.1 +1 validated p.E446D 1.000 27 0% 37 24.3% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL LOC100289182 100289182 genome.wustl.edu 37 3 139257805 139257805 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 XM_002342372.1 +1 model p.A29V 0.871 58 0% 89 14.6% - - - - - NULL XRN1 54464 genome.wustl.edu 37 3 142116261 142116261 + Nonsense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_019001.3 -1 validated p.S750* 1.000 83 0% 141 18.4% - - - - - NULL SKIL 6498 genome.wustl.edu 37 3 170108991 170108991 + Silent SNP A A G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_005414.3 +1 validated p.Q613 0.979 14 0% 28 50% - - - - - NULL ABLIM2 84448 genome.wustl.edu 37 4 8082515 8082515 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001130083.1 -1 validated p.G157S 1.000 57 0% 39 30.8% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) HTRA3 94031 genome.wustl.edu 37 4 8307843 8307843 + Missense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_053044.2 +1 provisional p.A448S 0.007 11 0% 18 33.3% - - benign(0) tolerated(0.25) neutral(0.037) superfamily_PDZ domain-like CDH9 1007 genome.wustl.edu 37 5 26881680 26881680 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_016279.3 -1 reviewed p.L645 1.000 44 0% 70 47.1% - - - - - HMMPfam_Cadherin_C SLC1A3 6507 genome.wustl.edu 37 5 36677103 36677103 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_004172.4 +1 reviewed p.R226Q 0.003 61 0% 99 16.2% - - benign(0.002) tolerated(0.24) neutral(0.037) HMMPfam_SDF GPBP1 65056 genome.wustl.edu 37 5 56510004 56510004 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001127235.2 +1 validated p.P16L 1.000 133 0% 174 19% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRDM6 93166 genome.wustl.edu 37 5 122495254 122495254 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001136239.1 +1 validated p.E359K 1.000 88 0% 97 20.6% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PRDM6 93166 genome.wustl.edu 37 5 122515882 122515882 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001136239.1 +1 validated p.P513H 1.000 41 0% 81 25.9% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC36A1 206358 genome.wustl.edu 37 5 150838428 150838428 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_078483.2 +1 reviewed p.P25 0.056 12 0% 15 60% - - - - - NULL HIST1H3D 8351 genome.wustl.edu 37 6 26197239 26197239 + Missense_Mutation SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_003530.3 -1 reviewed p.K80N 1.000 45 0% 63 49.2% - - possibly_damaging(0.928) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold HIST1H2AM 8336 genome.wustl.edu 37 6 27860756 27860756 + Missense_Mutation SNP A A T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_003514.2 -1 reviewed p.Y58N 1.000 34 0% 59 22% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold PRICKLE4 29964 genome.wustl.edu 37 6 41754697 41754697 + Nonsense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_013397.5 +1 validated p.E329* 0.019 26 0% 52 32.7% - - - - - NULL EYS 346007 genome.wustl.edu 37 6 64472494 64472495 + In_Frame_Ins INS - - ATG novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001142800.1 -1 reviewed p.2644in_frame_insS 0.908:0.152 - - - - - - - - - HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin TULP4 56995 genome.wustl.edu 37 6 158924559 158924559 + Missense_Mutation SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_020245.3 +1 validated p.E1288D 1.000 12 0% 25 24% - - benign(0.006) tolerated(0.27) neutral(0.034) NULL SLC22A3 6581 genome.wustl.edu 37 6 160857846 160857846 + Missense_Mutation SNP C C G rs141104413 TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_021977.2 +1 reviewed p.S337C 1.000 84 0% 96 24% - - possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PLG 5340 genome.wustl.edu 37 6 161127463 161127463 + Missense_Mutation SNP A A G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000301.3 +1 reviewed p.Y25C 0.935 88 0% 114 18.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAN_1,HMMSmart_PAN_AP,superfamily_SSF57414 PSPH 5723 genome.wustl.edu 37 7 56079562 56079562 + Missense_Mutation SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_004577.3 -1 reviewed p.D191H 1.000 39 0% 44 50% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Hydrolase,superfamily_HAD-like KPNA7 402569 genome.wustl.edu 37 7 98792950 98792950 + Missense_Mutation SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001145715.1 -1 validated p.S99C 0.998 15 0% 10 90% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold LAMB4 22798 genome.wustl.edu 37 7 107738804 107738805 + Frame_Shift_Ins INS - - AGGGGTTGATGGACGCCCCCTCCCCGCCCTCCCACTATGGACTTACGCTGGCAGCCCAT novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000414450 -1 known p.C430fs 0.029:0.022 - - - - - - - - - NULL IRF5 3663 genome.wustl.edu 37 7 128587352 128587381 + Splice_Site DEL ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001098627.2 +1 reviewed e5+1 0.766:0.707:0.638:0.562:0.538:0.511:0.480:0.444:0.402:0.360:0.317:0.273:0.262:0.251:0.239:0.226:0.213:0.199:0.185:0.170:0.155:0.138:0.122:0.120:0.118:0.116:0.113:0.110:0.107:0.104 - - - - - - - - - - DLC1 10395 genome.wustl.edu 37 8 13251175 13251175 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_182643.2 -1 reviewed p.A401T 0.118 61 0% 48 14.6% - - benign(0) tolerated(1) - NULL GSR 2936 genome.wustl.edu 37 8 30546715 30546715 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000637.2 -1 validated p.R335Q 1.000 24 0% 23 47.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain POLB 5423 genome.wustl.edu 37 8 42229166 42229166 + Silent SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_002690.1 +1 provisional p.R333 0.856 16 0% 30 26.7% - - unknown(0) - - HMMSmart_POLXc,superfamily_SSF81301 NCOA2 10499 genome.wustl.edu 37 8 71060520 71060520 + Frame_Shift_Del DEL T T - novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006540.2 -1 validated p.I865fs 1.000 - - - - - - - - - NULL CSMD3 114788 genome.wustl.edu 37 8 113353746 113353746 + Missense_Mutation SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_198123.1 -1 validated p.D2204E 1.000 67 0% 100 48% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SLC24A2 25769 genome.wustl.edu 37 9 19786439 19786439 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_020344.1 -1 provisional p.M142I 1.000 17 0% 20 35% - - possibly_damaging(0.945) tolerated(0.13) deleterious(0.642) NULL UBAP1 51271 genome.wustl.edu 37 9 34241886 34241886 + Missense_Mutation SNP A A G rs142114254 by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_016525.4 +1 reviewed p.H288R 1.000 23 0% 36 27.8% - - probably_damaging(0.959) tolerated(0.2) neutral(0.452) NULL KIAA1958 158405 genome.wustl.edu 37 9 115422332 115422332 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_133465.2 +1 predicted p.H712N 1.000 11 0% 23 26.1% - - possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL USP6NL 9712 genome.wustl.edu 37 10 11505018 11505018 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001080491.2 -1 validated p.V654I 0.000 13 0% 27 44.4% - - benign(0.004) tolerated(0.28) neutral(0.032) NULL PIP4K2A 5305 genome.wustl.edu 37 10 22896910 22896910 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_005028.4 -1 reviewed p.P95 0.002 25 0% 42 45.2% - - - - - HMMSmart_SM00330,superfamily_SAICAR synthase-like LOC646360 646360 genome.wustl.edu 37 10 37627383 37627383 + RNA SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 XR_078419.1 +1 model NULL 1.000 24 0% 55 14.5% - - - - - - KAT6B 23522 genome.wustl.edu 37 10 76737148 76737148 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_012330.2 +1 validated p.E690K 0.996 100 0% 143 33.6% - - benign(0.21) - - NULL ANXA11 311 genome.wustl.edu 37 10 81930654 81930654 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001157.2 -1 reviewed p.G25C 0.995 16 0% 27 70.4% - - unknown(0) deleterious(0.02) - NULL FGFR2 2263 genome.wustl.edu 37 10 123260344 123260344 + Frame_Shift_Del DEL C C - novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_022970.3 -1 reviewed p.D522fs 1.000 - - - - - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like IFITM3 10410 genome.wustl.edu 37 11 320649 320649 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_021034.2 -1 validated p.P55 0.309 41 4.9% 23 26.1% - - - - - HMMPfam_CD225 CD59 966 genome.wustl.edu 37 11 33743927 33743927 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000611.5 -1 reviewed p.S22L 0.178 51 0% 102 21.6% - - benign(0.074) tolerated(0.14) neutral(0.255) NULL PC 5091 genome.wustl.edu 37 11 66618552 66618552 + Missense_Mutation SNP C C T rs193271416 by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000920.3 -1 reviewed p.E728K 0.986 6 0.000 17 0.235 - - benign(0) tolerated(1) - HMMPfam_HMGL-like,superfamily_SSF51569 INPPL1 3636 genome.wustl.edu 37 11 71940256 71940256 + Nonsense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001567.3 +1 reviewed p.S214* 0.987 16 0% 16 43.8% - - - - - NULL ERC1 23085 genome.wustl.edu 37 12 1137169 1137169 + Nonsense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_178040.2 +1 reviewed p.R34* 1.000 31 0% 38 31.6% - - - - - NULL CSDA 8531 genome.wustl.edu 37 12 10862582 10862582 + Silent SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_003651.4 -1 validated p.R235 1.000 22 0% 33 42.4% - - - - - NULL ETNK1 55500 genome.wustl.edu 37 12 22797150 22797150 + Nonsense_Mutation SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001039481.1 +1 reviewed p.S230* 0.000 45 0% 64 31.2% - - - - - superfamily_Protein kinase-like (PK-like) ITPR2 3709 genome.wustl.edu 37 12 26564327 26564327 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_002223.2 -1 validated p.T2442I 0.985 76 0% 76 22.4% - - benign(0.031) tolerated(0.2) neutral(0.051) HMMPfam_Ion_trans LRRK2 120892 genome.wustl.edu 37 12 40692188 40692188 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_198578.3 +1 reviewed p.V1080 0.634 53 0% 58 34.5% - - - - - superfamily_SSF52058 PMEL 6490 genome.wustl.edu 37 12 56348073 56348073 + Missense_Mutation SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006928.3 -1 validated p.W637C 0.999 57 0% 183 28.4% - - probably_damaging(0.966) deleterious(0.02) deleterious(0.791) NULL COQ10A 93058 genome.wustl.edu 37 12 56661633 56661633 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_144576.3 +1 validated p.E64K 0.378 38 0% 69 20.3% - - benign(0.001) tolerated(0.65) neutral(0.003) NULL MIP 4284 genome.wustl.edu 37 12 56848300 56848300 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_012064.3 -1 reviewed p.R33H 1.000 17 0% 47 36.2% - - benign(0.026) tolerated(0.14) neutral(0.251) HMMPfam_MIP,superfamily_MIP ENSG00000246966 0 genome.wustl.edu 37 12 70914045 70914046 + RNA INS - - AAGT novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000501222 +1 known NULL 0.023:0.026 - - - - - - - - - - UBE2N 7334 genome.wustl.edu 37 12 93835634 93835634 + Silent SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_003348.3 -1 reviewed p.I9 1.000 17 0% 18 50% - - - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like C12orf42 374470 genome.wustl.edu 37 12 103700092 103700092 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001099336.1 -1 validated p.A97 0.000 28 0% 47 42.6% - - - - - NULL ORAI1 84876 genome.wustl.edu 37 12 122064774 122064779 + In_Frame_Del DEL CCGCCA CCGCCA - rs141919534 byCluster;by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 CCGCCA CCGCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_032790.3 +1 reviewed p.PP46in_frame_del 0.716:0.710:0.709:0.897:0.997:0.999 - - - - - - - - - NULL RNASEH2B 79621 genome.wustl.edu 37 13 51501540 51501540 + Splice_Site SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000459983 +1 known NULL 1.000 64 0% 76 38.2% - - - - - - OR4K15 81127 genome.wustl.edu 37 14 20444410 20444410 + Missense_Mutation SNP A A G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001005486.1 +1 provisional p.I245V 0.944 70 0% 94 29.8% - - benign(0.012) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_SSF81321 OR11H6 122748 genome.wustl.edu 37 14 20692287 20692287 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001004480.1 +1 provisional p.R140Q 1.000 57 0% 66 54.5% - - possibly_damaging(0.884) deleterious(0.04) deleterious(0.694) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 RNF31 55072 genome.wustl.edu 37 14 24617669 24617669 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000382687 +1 known p.E9K 0.000 13 0% 23 43.5% - - unknown(0) - - NULL TMEM63C 57156 genome.wustl.edu 37 14 77648238 77648240 + Splice_Site DEL GTG GTG - rs35484514 byCluster;by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_020431.2 +1 validated e0+1 0.931:0.961 - - - - - - - - - - IGHV3-16 28447 genome.wustl.edu 37 14 106621988 106621988 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000390604 -1 known p.R86Q 0.012 67 0% 101 16.8% - - probably_damaging(0.96) deleterious(0.03) deleterious(0.768) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 MAP2K1 5604 genome.wustl.edu 37 15 66729191 66729191 + Silent SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_002755.3 +1 reviewed p.F133 1.000 62 0% 46 54.3% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SH3GL3 6457 genome.wustl.edu 37 15 84287234 84287235 + RNA INS - - TTG rs10700817 TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NR_026799.1 +1 validated NULL 0.000:0.679 - - - - - - - - - - COG7 91949 genome.wustl.edu 37 16 23417496 23417496 + Missense_Mutation SNP C C G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_153603.3 -1 reviewed p.K521N 1.000 31 0% 88 55.7% - - benign(0.282) tolerated(0.22) neutral(0.129) HMMPfam_COG7 SPG7 6687 genome.wustl.edu 37 16 89590168 89590169 + Frame_Shift_Ins INS - - ATCTC rs113476208 byCluster;by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 ENST00000312632 +1 known p.R23fs 0.007:0.005 - - - - - - - - - NULL OR1A1 8383 genome.wustl.edu 37 17 3118972 3118972 + Nonsense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_014565.2 +1 validated p.Q20* 0.033 49 0% 49 24.5% - - - - - superfamily_SSF81321 TP53 7157 genome.wustl.edu 37 17 7578492 7578492 + Nonsense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_000546.4 -1 reviewed p.W146* 0.902 14 0% 31 83.9% - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 TMEM107 84314 genome.wustl.edu 37 17 8079581 8079581 + Frame_Shift_Del DEL C C - novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_032354.3 -1 validated p.S10fs 0.996 - - - - - - - - - NULL SPOP 8405 genome.wustl.edu 37 17 47696461 47696461 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001007226.1 -1 reviewed p.R121Q 1.000 29 0% 49 91.8% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like KDSR 2531 genome.wustl.edu 37 18 60999112 60999113 + Frame_Shift_Ins INS - - G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_002035.2 -1 reviewed p.R301fs 1.000:1.000 - - - - - - - - - NULL CDH19 28513 genome.wustl.edu 37 18 64239381 64239381 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_021153.2 -1 reviewed p.G21R 0.000 66 0% 35 37.1% - - benign(0) tolerated(0.61) neutral(0.004) NULL MIDN 90007 genome.wustl.edu 37 19 1255012 1255012 + Nonsense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_177401.4 +1 validated p.E270* 1.000 10 0% 21 100% - - - - - NULL PLIN5 440503 genome.wustl.edu 37 19 4529255 4529257 + In_Frame_Del DEL GAG GAG - rs140507757 by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001013706.2 -1 validated p.S117in_frame_del 0.877:0.894:0.900 - - - - - - - - - HMMPfam_Perilipin IL12RB1 3594 genome.wustl.edu 37 19 18179231 18179231 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_005535.1 -1 reviewed p.T432M 0.114 31 0% 53 28.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FXYD5 53827 genome.wustl.edu 37 19 35651661 35651661 + Silent SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_014164.5 +1 reviewed p.G83 0.000 60 0% 83 54.2% - - - - - NULL HRC 3270 genome.wustl.edu 37 19 49657711 49657725 + In_Frame_Del DEL CATCATCATCATCAT CATCATCATCATCAT - rs66501117 byCluster;by1000genomes TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 CATCATCATCATCAT CATCATCATCATCAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_002152.2 -1 reviewed p.DDDDD257in_frame_del 0.165:0.109:0.119:0.136:0.120:0.147:0.127:0.067:0.074:0.005:0.003:0.023:0.006:0.000:0.004 - - - - - - - - - NULL FAM71E2 284418 genome.wustl.edu 37 19 55874320 55874320 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001145402.1 -1 predicted p.R39C 0.995 19 0% 19 63.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PEG3 5178 genome.wustl.edu 37 19 57327982 57327982 + Missense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006210.2 -1 reviewed p.P610T 0.531 38 0% 56 25% - - benign(0.005) tolerated(0.49) neutral(0.011) superfamily_C2H2 and C2HC zinc fingers ZNF805 390980 genome.wustl.edu 37 19 57764655 57764655 + Silent SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001145078.1 +1 validated p.P23 0.000 48 0% 61 24.6% - - - - - NULL SLC12A5 57468 genome.wustl.edu 37 20 44680427 44680427 + Silent SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001134771.1 +1 reviewed p.G788 0.778 27 0% 72 25% - - - - - NULL HRH3 11255 genome.wustl.edu 37 20 60791938 60791938 + Silent SNP C C A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_007232.2 -1 validated p.R154 0.046 9 0.000 31 0.258 - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DYRK1A 1859 genome.wustl.edu 37 21 38862551 38862551 + Missense_Mutation SNP G G C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001396.3 +1 reviewed p.D247H 1.000 40 0% 70 21.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF4ENIF1 56478 genome.wustl.edu 37 22 31851930 31851930 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_019843.3 -1 reviewed p.R336Q 1.000 24 0% 66 25.8% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_EIF4E-T SUN2 25777 genome.wustl.edu 37 22 39136274 39136274 + Missense_Mutation SNP C C T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_015374.1 -1 validated p.D452N 0.105 4 0.000 14 0.429 - - possibly_damaging(0.951) tolerated(0.25) neutral(0.431) NULL GK 2710 genome.wustl.edu 37 X 30742280 30742280 + Missense_Mutation SNP A A G novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_001128127.1 +1 reviewed p.T516A 0.969 89 0% 57 36.8% - - benign(0.003) tolerated(0.45) neutral(0.012) superfamily_SSF53067 SYTL5 94122 genome.wustl.edu 37 X 37948727 37948727 + Missense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_138780.2 +1 reviewed p.D240Y 0.248 26 0% 20 45% - - probably_damaging(0.992) tolerated(0.1) deleterious(0.734) HMMPfam_RPH3A_effector SRPX 8406 genome.wustl.edu 37 X 38009094 38009094 + Missense_Mutation SNP T T C novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_006307.4 -1 validated p.H422R 1.000 68 0% 37 45.9% - - possibly_damaging(0.923) tolerated(0.39) neutral(0.389) NULL UBA1 7317 genome.wustl.edu 37 X 47062083 47062083 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_003334.3 +1 reviewed p.R368Q 0.030 32 0% 48 20.8% - - benign(0) tolerated(0.86) neutral(0.001) superfamily_MoeB ITIH6 347365 genome.wustl.edu 37 X 54784084 54784084 + Nonsense_Mutation SNP G G T novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_198510.2 -1 reviewed p.S808* 0.001 64 0% 51 41.2% - - - - - NULL MAGED2 10916 genome.wustl.edu 37 X 54837460 54837460 + Silent SNP T T A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_014599.4 +1 reviewed p.P248 0.999 16 0% 16 43.8% - - - - - NULL MSN 4478 genome.wustl.edu 37 X 64959738 64959738 + Missense_Mutation SNP G G A novel TCGA-FI-A2EW-01A-11D-A17D-09 TCGA-FI-A2EW-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 143e1175-4d47-4431-bdd4-927b3afbfad1 9b6c1804-b0af-431e-8bd1-b15807007696 NM_002444.2 +1 reviewed p.E573K 1.000 34 0% 25 28% - - benign(0.19) tolerated(0.16) neutral(0.077) superfamily_Moesin,HMMPfam_ERM