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 MTOR 2475 genome.wustl.edu 37 1 11168338 11168338 + Missense_Mutation SNP C C A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_004958.3 -1 reviewed p.D2512Y 1.000 155 0% 73 53.4% 21 52.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARID1A 8289 genome.wustl.edu 37 1 27105586 27105586 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_006015.4 +1 reviewed p.E1733* 1.000 130 0% 151 41.1% 4 0% - - - NULL PTGER3 5733 genome.wustl.edu 37 1 71478027 71478027 + Silent SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_198718.1 -1 reviewed p.Y346 1.000 175 0% 53 43.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CELSR2 1952 genome.wustl.edu 37 1 109795808 109795808 + Missense_Mutation SNP A A G novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001408.2 +1 reviewed p.N1036S 1.000 59 0% 24 37.5% 0 - probably_damaging(0.971) tolerated(0.07) deleterious(0.732) superfamily_Cadherin SMG5 23381 genome.wustl.edu 37 1 156220438 156220438 + Silent SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f ENST00000420555 -1 known p.R119C 0.501 151 0% 127 26.8% 8 12.5% - - - NULL LRRC71 149499 genome.wustl.edu 37 1 156899090 156899090 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_144702.2 +1 validated p.G339R 0.021 187 0% 260 76.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_RNI-like ATP1A2 477 genome.wustl.edu 37 1 160105033 160105033 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_000702.3 +1 reviewed p.A688V 1.000 129 0% 102 22.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81665 KLHL12 59349 genome.wustl.edu 37 1 202887421 202887421 + Missense_Mutation SNP C C G novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_021633.2 -1 provisional p.D149H 1.000 247 0% 302 22.8% 5 0% benign(0.057) deleterious(0) neutral(0.448) HMMPfam_BACK SH3BP5L 80851 genome.wustl.edu 37 1 249110822 249110822 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_030645.1 -1 provisional p.A96T 0.990 156 0% 174 66.1% 2 100% benign(0.002) tolerated(0.8) neutral(0.001) HMMPfam_SH3BP5 SMC6 79677 genome.wustl.edu 37 2 17860182 17860182 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001142286.1 -1 validated p.R952W 0.984 113 0% 48 39.6% 11 18.1% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases WDFY1 57590 genome.wustl.edu 37 2 224760304 224760304 + Silent SNP G G C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_020830.3 -1 reviewed p.L214 1.000 168 0% 31 41.9% 2 50% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 ASB18 401036 genome.wustl.edu 37 2 237150058 237150058 + Missense_Mutation SNP C C A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f ENST00000330842 -1 known p.A36S 0.952 107 0% 95 53.7% 0 - benign(0.277) tolerated(0.14) neutral(0.279) superfamily_ANK CSRNP1 64651 genome.wustl.edu 37 3 39185717 39185717 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_033027.3 -1 reviewed p.R231C 1.000 76 0% 18 55.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266103 41266103 + Missense_Mutation SNP G G C rs121913399 TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001098209.1 +1 reviewed p.G34R 1.000 99 0% 49 49% 19 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF148 7707 genome.wustl.edu 37 3 124998005 124998005 + Silent SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_021964.2 -1 validated p.T182 1.000 202 0% 95 45.3% 0 - benign(0.023) - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FXR1 8087 genome.wustl.edu 37 3 180652940 180652940 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_005087.2 +1 reviewed p.R40H 1.000 137 0% 141 44.7% 3 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL TACC3 10460 genome.wustl.edu 37 4 1729765 1729800 + In_Frame_Del DEL CAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG CAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG - novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 CAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG CAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_006342.1 +1 reviewed p.TPHGAEEECKAE216in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.004:0.002:0.000:0.000:0.000:0.000:0.001:0.004:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.003:0.004:0.011:0.013:0.014 - - - - - - - - - NULL ZFYVE28 57732 genome.wustl.edu 37 4 2321970 2321970 + Missense_Mutation SNP G G T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_020972.2 -1 validated p.L244M 0.977 100 0% 49 40.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC158 339965 genome.wustl.edu 37 4 77234349 77234349 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001042784.1 -1 validated p.D1106N 1.000 483 0% 513 43.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HPSE 10855 genome.wustl.edu 37 4 84231997 84231997 + Silent SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001098540.1 -1 validated p.S240 0.524 199 0% 143 40.6% 0 - - - - HMMPfam_Glyco_hydro_79n,superfamily_(Trans)glycosidases FBXO8 26269 genome.wustl.edu 37 4 175158646 175158646 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_012180.2 -1 reviewed p.R293C 1.000 218 0% 88 34.1% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain FBN2 2201 genome.wustl.edu 37 5 127685143 127685143 + Missense_Mutation SNP A A G novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001999.3 -1 reviewed p.F962S 1.000 140 0% 51 39.2% 0 - probably_damaging(1) tolerated(0.26) deleterious(0.534) HMMSmart_SM00179,superfamily_TB module/8-cys domain,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA SGK1 6446 genome.wustl.edu 37 6 134491990 134491992 + In_Frame_Del DEL TCT TCT - novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001143676.1 -1 reviewed p.K462in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_S_TK_X,superfamily_Kinase_like GPR31 2853 genome.wustl.edu 37 6 167570740 167570740 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_005299.2 -1 validated p.V194M 0.827 43 0% 21 38.1% 0 - possibly_damaging(0.952) tolerated(0.06) deleterious(0.718) HMMPfam_7tm_1,superfamily_SSF81321 WBSCR17 64409 genome.wustl.edu 37 7 70853279 70853279 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_022479.1 +1 reviewed p.V161M 1.000 209 0% 79 46.8% 0 - possibly_damaging(0.76) tolerated(0.22) neutral(0.323) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases TECPR1 25851 genome.wustl.edu 37 7 97847352 97847352 + Missense_Mutation SNP T T C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_015395.1 -1 provisional p.N1054D 0.998 49 0% 17 58.8% 2 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Hyd_WA,HMMSmart_SM00706 MTUS1 57509 genome.wustl.edu 37 8 17507462 17507462 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001001924.2 -1 reviewed p.Q1132* 1.000 298 0% 228 43% 3 33.3% - - - NULL INTS9 55756 genome.wustl.edu 37 8 28716966 28716966 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_018250.3 -1 reviewed p.P42S 1.000 247 0% 73 41.1% 5 60% benign(0.119) tolerated(0.18) neutral(0.066) NULL PXDNL 137902 genome.wustl.edu 37 8 52321076 52321076 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_144651.4 -1 validated p.Y1036* 0.937 56 0% 49 53.1% 1 0% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases TRAPPC9 83696 genome.wustl.edu 37 8 141460985 141460985 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_031466.5 -1 reviewed p.R261H 1.000 74 0% 21 19% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSTF3 1479 genome.wustl.edu 37 11 33123811 33123811 + Silent SNP A A C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001326.2 -1 reviewed p.A246 0.997 319 0% 191 42.4% 0 - - - - HMMSmart_SM00386,superfamily_TPR-like DLG2 1740 genome.wustl.edu 37 11 84865696 84865696 + Splice_Site SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001142699.1 -1 reviewed e3-1 0.941 262 0% 161 41.6% 0 - - - - - OR6C1 390321 genome.wustl.edu 37 12 55715014 55715014 + Silent SNP T T C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001005182.1 +1 provisional p.L211 0.078 206 0% 70 61.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RBMS2 5939 genome.wustl.edu 37 12 56982115 56982115 + Missense_Mutation SNP T T C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_002898.3 +1 reviewed p.I367T 1.000 247 0% 181 38.1% 7 0% benign(0.184) deleterious(0.01) neutral(0.423) NULL MED13L 23389 genome.wustl.edu 37 12 116424926 116424926 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_015335.3 -1 validated p.R1368W 0.998 167 0% 45 46.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAP_240kDa KIAA0564 23078 genome.wustl.edu 37 13 42273317 42273317 + Missense_Mutation SNP C C A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_015058.1 -1 validated p.D1152Y 1.000 144 0% 43 44.2% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL IPO5 3843 genome.wustl.edu 37 13 98669039 98669039 + Silent SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f ENST00000469360 +1 known p.S852L 1.000 250 0% 150 41.3% 17 76.4% - - - superfamily_ARM repeat OR4K14 122740 genome.wustl.edu 37 14 20482811 20482811 + Missense_Mutation SNP T T C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001004712.1 -1 provisional p.D181G 0.996 158 0% 73 47.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 ATG14 22863 genome.wustl.edu 37 14 55844731 55844731 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_014924.3 -1 provisional p.A353T 1.000 198 0% 186 91.9% 1 100% benign(0.002) tolerated(1) - HMMPfam_DUF2355 SKOR1 390598 genome.wustl.edu 37 15 68118468 68118468 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001031807.1 +1 provisional p.A92V 1.000 75 0% 28 60.7% 0 - benign(0.135) deleterious(0.01) neutral(0.417) HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind TNP2 7142 genome.wustl.edu 37 16 11362819 11362819 + Missense_Mutation SNP G G T rs34904070 byCluster;by1000genomes TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_005425.4 -1 validated p.R101S 0.025 571 0% 322 47.8% 0 - benign(0) tolerated(1) - HMMPfam_TP2 SMG1 23049 genome.wustl.edu 37 16 18841330 18841346 + Frame_Shift_Del DEL TAGCACCTGCCGGTGAT TAGCACCTGCCGGTGAT - novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 TAGCACCTGCCGGTGAT TAGCACCTGCCGGTGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_015092.4 -1 reviewed p.N3012fs 0.998:1.000:0.997:0.998:1.000:1.000:0.970:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.959:0.997 - - - - - - - - - NULL CTCF 10664 genome.wustl.edu 37 16 67670599 67670600 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_006565.2 +1 reviewed p.E616fs 1.000:1.000 - - - - - - - - - NULL NFATC3 4775 genome.wustl.edu 37 16 68156199 68156199 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_173165.1 +1 reviewed p.R138Q 1.000 97 0% 99 48.5% 0 - possibly_damaging(0.756) tolerated(0.25) neutral(0.316) NULL NETO1 81832 genome.wustl.edu 37 18 70461478 70461478 + Silent SNP C C T rs191705126 by1000genomes TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_138966.2 -1 reviewed p.A171 0.481 126 0% 63 38.1% 0 - - - - superfamily_Spermadhesin CUB domain KLK7 5650 genome.wustl.edu 37 19 51483588 51483588 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_005046.2 -1 reviewed p.S126F 0.000 260 0% 60 43.3% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SIGLEC14 100049587 genome.wustl.edu 37 19 52149062 52149062 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001098612.1 -1 validated p.E225K 0.641 284 0% 90 54.4% 0 - benign(0.056) tolerated(0.16) neutral(0.063) superfamily_SSF48726 XRN2 22803 genome.wustl.edu 37 20 21324732 21324732 + Missense_Mutation SNP C C T novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_012255.3 +1 reviewed p.P472L 1.000 133 0% 54 55.6% 4 25% benign(0.013) tolerated(0.29) neutral(0.030) NULL MYO18B 84700 genome.wustl.edu 37 22 26164432 26164432 + Silent SNP C C T rs41281573 byFrequency;by1000genomes TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_032608.5 +1 reviewed p.P183 0.006 42 0% 27 59.3% 0 - - - - NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2408 2408 + RNA SNP T T C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f ENST00000387347 +1 known NULL NULL 116 0% 51 98% 8009 96% - - - - GK 2710 genome.wustl.edu 37 X 30739106 30739106 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001128127.1 +1 reviewed p.A493T 0.975 138 0% 47 53.2% 6 16.6% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_FGGY_C,superfamily_SSF53067 BCOR 54880 genome.wustl.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001123385.1 -1 reviewed p.N1459S 1.000 141 0% 67 53.7% 4 75% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Ankyrin repeat ATP2B3 492 genome.wustl.edu 37 X 152845458 152845458 + Missense_Mutation SNP G G A novel TCGA-AP-A0LL-01A-12D-A127-09 TCGA-AP-A0LL-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0385961e-ea99-40b2-ad79-6872bc30d8a1 ea5ee522-cab3-4f66-9e55-ae5c1a1a6e0f NM_001001344.2 +1 reviewed p.R1122H 1.000 74 0% 48 43.8% 0 - benign(0.015) tolerated(0.09) neutral(0.297) NULL