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 ARID1A 8289 genome.wustl.edu 37 1 27057804 27057804 + Frame_Shift_Del DEL A A - rs61749357 TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_006015.4 +1 reviewed p.Q505fs 0.049 - - - - - - - - - NULL CSF3R 1441 genome.wustl.edu 37 1 36931958 36931958 + Nonstop_Mutation SNP C C G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_156039.2 -1 reviewed p.*864Y 0.256 28 0% 29 62.1% - - - - - NULL COL11A1 1301 genome.wustl.edu 37 1 103461460 103461460 + Missense_Mutation SNP G G T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_080629.2 -1 reviewed p.A779E 1.000 60 0% 46 28.3% - - benign(0.158) tolerated(0.3) neutral(0.043) HMMPfam_Collagen PRRC2C 23215 genome.wustl.edu 37 1 171504709 171504710 + Frame_Shift_Del DEL TT TT - novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_015172.3 +1 validated p.L671fs 0.998:0.998 - - - - - - - - - NULL SLC8A1 6546 genome.wustl.edu 37 2 40366693 40366693 + Nonsense_Mutation SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_021097.2 -1 validated p.W798* 1.000 25 0% 87 59.8% - - - - - NULL METAP1D 254042 genome.wustl.edu 37 2 172926339 172926339 + Missense_Mutation SNP A A G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_199227.1 +1 validated p.I52V 0.918 95 0% 122 46.7% - - benign(0) tolerated(0.85) neutral(0.001) NULL PROK2 60675 genome.wustl.edu 37 3 71821941 71821941 + Silent SNP T T C novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_001126128.1 -1 reviewed p.P108 0.117 40 0% 30 13.3% - - - - - HMMPfam_Prokineticin,superfamily_Colipase-like KPNA1 3836 genome.wustl.edu 37 3 122145407 122145408 + RNA INS - - T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NR_026698.1 -1 reviewed NULL 1.000:1.000 - - - - - - - - - - CLRN1 7401 genome.wustl.edu 37 3 150645803 150645803 + Nonsense_Mutation SNP G G A novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_174878.2 -1 reviewed p.R207* 1.000 49 0% 72 30.6% - - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178952077 178952077 + Missense_Mutation SNP T T G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_006218.2 +1 reviewed p.N1044K 1.000 36 0% 93 51.6% - - probably_damaging(0.983) tolerated(0.05) deleterious(0.774) HMMSmart_PI3Kc,superfamily_Kinase_like APC 324 genome.wustl.edu 37 5 112154723 112154723 + Nonsense_Mutation SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_000038.4 +1 reviewed p.R332* 0.996 37 0% 36 63.9% - - - - - superfamily_ARM repeat MEGF10 84466 genome.wustl.edu 37 5 126755818 126755818 + Silent SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_032446.2 +1 validated p.N503 0.861 19 0% 23 60.9% - - - - - HMMSmart_SM00180,HMMSmart_SM00181 HFE 3077 genome.wustl.edu 37 6 26093114 26093114 + Missense_Mutation SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_000410.3 +1 reviewed p.P273L 0.003 43 0% 55 36.4% - - benign(0.002) tolerated(0.31) neutral(0.027) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin HIST1H4G 8369 genome.wustl.edu 37 6 26247065 26247065 + Missense_Mutation SNP G G C novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_003547.2 -1 reviewed p.I47M 1.000 37 0% 34 26.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_H4,HMMPfam_Histone,superfamily_Histone-fold TCP10 6953 genome.wustl.edu 37 6 167791514 167791514 + Missense_Mutation SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_004610.3 -1 validated p.A116T 0.000 92 0% 134 48.5% - - benign(0.039) tolerated(0.15) neutral(0.243) NULL MPPED2 744 genome.wustl.edu 37 11 30439158 30439158 + Missense_Mutation SNP C C A novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_001584.2 -1 reviewed p.G187C 1.000 50 0% 31 25.8% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases OPCML 4978 genome.wustl.edu 37 11 132527164 132527164 + Missense_Mutation SNP G G T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_002545.3 -1 reviewed p.T73N 1.000 59 0% 60 31.7% - - benign(0.039) tolerated(0.13) neutral(0.255) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PLBD1 79887 genome.wustl.edu 37 12 14688639 14688639 + Missense_Mutation SNP T T C novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_024829.5 -1 validated p.I266M 0.000 57 0% 112 27.7% - - benign(0.004) tolerated(0.11) neutral(0.272) HMMPfam_Phospholip_B STRN3 29966 genome.wustl.edu 37 14 31388219 31388219 + Missense_Mutation SNP G G A novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_001083893.1 -1 validated p.S398L 1.000 65 0% 128 37.5% - - possibly_damaging(0.694) tolerated(0.08) deleterious(0.549) NULL PAX9 5083 genome.wustl.edu 37 14 37145495 37145495 + Silent SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_006194.3 +1 reviewed p.T288 1.000 61 0% 65 29.2% - - - - - NULL CASC5 57082 genome.wustl.edu 37 15 40915288 40915288 + Silent SNP T T C novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_170589.3 +1 validated p.T968 0.654 28 0% 25 76% - - - - - NULL CHRNA3 1136 genome.wustl.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs66793222 byCluster;by1000genomes TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_000743.4 -1 reviewed p.L23in_frame_del 0.172:0.251:0.463 - - - - - - - - - NULL COG7 91949 genome.wustl.edu 37 16 23453825 23453825 + Missense_Mutation SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_153603.3 -1 reviewed p.V193I 0.743 30 0% 45 33.3% - - probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMPfam_COG7 EXOC3L1 283849 genome.wustl.edu 37 16 67218471 67218471 + Nonsense_Mutation SNP C C A novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd ENST00000314553 -1 known p.G622* 0.922 5 0.000 7 1.000 - - - - - HMMPfam_Sec6 TP53 7157 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 byCluster TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_000546.4 -1 reviewed p.R273C 0.830 39 0% 56 67.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 MED9 55090 genome.wustl.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_018019.2 +1 reviewed p.Q116in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_CSE2 CDK12 51755 genome.wustl.edu 37 17 37687543 37687543 + Missense_Mutation SNP G G A novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_016507.2 +1 validated p.G1483R 1.000 8 0.000 19 1.000 - - unknown(0) deleterious(0) - NULL KRT36 8689 genome.wustl.edu 37 17 39643668 39643675 + Frame_Shift_Del DEL CCGTCTGG CCGTCTGG - novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 CCGTCTGG CCGTCTGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_003771.4 -1 reviewed p.C305fs 0.989:0.000:0.409:0.421:0.790:0.909:0.960:0.979 - - - - - - - - - superfamily_Prefoldin,HMMPfam_Filament CBX1 10951 genome.wustl.edu 37 17 46152382 46152387 + In_Frame_Del DEL CATGAG CATGAG - novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 CATGAG CATGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_001127228.1 -1 reviewed p.LM132in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00298,HMMPfam_Chromo_shadow,superfamily_Chromo domain-like,HMMSmart_SM00300 UNC13D 201294 genome.wustl.edu 37 17 73826490 73826491 + Frame_Shift_Ins INS - - G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_199242.2 -1 reviewed p.R928fs 0.000:0.106 - - - - - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OSBPL1A 114876 genome.wustl.edu 37 18 21819342 21819342 + Missense_Mutation SNP C C G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_080597.2 -1 reviewed p.R429T 1.000 33 0% 30 46.7% - - benign(0.139) tolerated(0.15) neutral(0.253) NULL CDH19 28513 genome.wustl.edu 37 18 64235735 64235735 + Silent SNP G G T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_021153.2 -1 reviewed p.I136 1.000 73 0% 125 41.6% - - - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin ZNF726 730087 genome.wustl.edu 37 19 24116696 24116696 + Missense_Mutation SNP A A G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd ENST00000322487 +1 known p.Y593C 0.165 18 0% 16 43.8% - - possibly_damaging(0.751) deleterious(0.03) deleterious(0.640) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYH14 79784 genome.wustl.edu 37 19 50753885 50753885 + Silent SNP C C T novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_001077186.1 +1 reviewed p.F590 1.000 23 0% 35 37.1% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MIS18A 54069 genome.wustl.edu 37 21 33651308 33651308 + Silent SNP T T G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_018944.2 -1 validated p.S6 0.000 15 0.000 4 1.000 - - - - - NULL C21orf119 84996 genome.wustl.edu 37 21 33765457 33765472 + RNA DEL GGGATCCAGAGTCTTG GGGATCCAGAGTCTTG - rs150903996 by1000genomes TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 GGGATCCAGAGTCTTG GGGATCCAGAGTCTTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NR_026845.1 +1 validated NULL 0.001:0.002:0.003:0.000:0.000:0.000:0.000:0.001:0.002:0.003:0.004:0.005:0.005:0.004:0.003:0.002 - - - - - - - - - - PKNOX1 5316 genome.wustl.edu 37 21 44430314 44430314 + Missense_Mutation SNP G G C novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_004571.3 +1 validated p.D111H 1.000 27 0% 17 82.4% - - possibly_damaging(0.768) deleterious(0) deleterious(0.730) NULL GAB4 128954 genome.wustl.edu 37 22 17450989 17450989 + Missense_Mutation SNP C C G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_001037814.1 -1 provisional p.D261H 1.000 53 0% 90 43.3% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SEPT5 5413 genome.wustl.edu 37 22 19709391 19709391 + Missense_Mutation SNP C C G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd ENST00000438754 +1 known p.H293D 1.000 16 0% 33 27.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ENSG00000210077 0 genome.wustl.edu 37 MT 1632 1632 + RNA SNP T T C novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd ENST00000387342 +1 novel NULL NULL 17 0% 641 93.9% - - - - - - ENSG00000210100 0 genome.wustl.edu 37 MT 4264 4264 + RNA SNP G G A novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd ENST00000387365 +1 novel NULL NULL 22 0% 443 52.1% - - - - - - FAM9A 171482 genome.wustl.edu 37 X 8763175 8763175 + Missense_Mutation SNP C C G novel TCGA-AX-A2HF-01A-11D-A17D-09 TCGA-AX-A2HF-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d81fbe39-5fb0-47a7-b9dd-6db92b4ec7c7 1f668b3b-ce5a-45c7-8598-823e0186f7dd NM_174951.3 -1 validated p.E259Q 0.000 63 0% 28 82.1% - - unknown(0) - - NULL