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 11308098 11308098 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004958.3 -1 reviewed p.K298 1.000 210 0% 296 27.7% 0 - - - - superfamily_ARM-type_fold EIF4G3 8672 genome.wustl.edu 37 1 21133927 21133927 + Missense_Mutation SNP T T G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003760.3 -1 validated p.K1548T 1.000 149 0% 285 24.2% 52 9.6% probably_damaging(0.995) tolerated(0.7) neutral(0.460) HMMPfam_W2,HMMSmart_SM00515,superfamily_ARM repeat ZBTB40 9923 genome.wustl.edu 37 1 22850799 22850799 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001083621.1 +1 validated p.K1129 1.000 85 0% 68 39.7% 1 0% - - - superfamily_C2H2 and C2HC zinc fingers ARID1A 8289 genome.wustl.edu 37 1 27057727 27057727 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_006015.4 +1 reviewed p.Q479* 1.000 652 0% 700 42% 0 - - - - NULL CSMD2 114784 genome.wustl.edu 37 1 34128619 34128619 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_052896.3 -1 validated p.G1336R 1.000 192 0% 120 36.7% 0 - probably_damaging(0.982) tolerated(0.29) neutral(0.456) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MANEAL 149175 genome.wustl.edu 37 1 38265666 38265666 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001113482.1 +1 validated p.Q389* 1.000 146 0% 141 13.5% 4 0% - - - NULL COL24A1 255631 genome.wustl.edu 37 1 86591140 86591140 + Silent SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_152890.5 -1 validated p.I293 0.000 239 0% 250 18.8% 0 - - - - NULL DPYD 1806 genome.wustl.edu 37 1 97915633 97915633 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000110.3 -1 reviewed p.K629N 0.932 138 0% 249 38.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF51395 VCAM1 7412 genome.wustl.edu 37 1 101190363 101190363 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001078.2 +1 reviewed p.R282M 0.917 136 0% 208 16.8% 0 - probably_damaging(0.997) tolerated(0.05) deleterious(0.811) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RSBN1 54665 genome.wustl.edu 37 1 114308684 114308684 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018364.3 -1 validated p.P776H 0.998 170 0% 150 16% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYT6 148281 genome.wustl.edu 37 1 114640439 114640439 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_205848.2 -1 validated p.G390 0.946 226 0% 158 33.5% 0 - - - - HMMSmart_C2,superfamily_C2_CaLB TRIM33 51592 genome.wustl.edu 37 1 114945458 114945458 + Missense_Mutation SNP A A T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015906.3 -1 reviewed p.V939D 1.000 122 0% 302 31.5% 12 16.6% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) superfamily_Bromodomain ECM1 1893 genome.wustl.edu 37 1 150485243 150485243 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004425.3 +1 reviewed p.C449 1.000 409 0% 369 29% 57 35% - - - HMMPfam_ECM1 FLG 2312 genome.wustl.edu 37 1 152279226 152279226 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_002016.1 -1 reviewed p.Q2712H 0.000 1334 0% 618 12% 0 - unknown(0) tolerated(0.05) - NULL FLG 2312 genome.wustl.edu 37 1 152282489 152282489 + Nonsense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_002016.1 -1 reviewed p.Q1625* 0.000 412 0% 184 13.6% 0 - - - - NULL FCRL3 115352 genome.wustl.edu 37 1 157669503 157669503 + Splice_Site SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_052939.3 -1 reviewed e2-1 0.999 48 0% 66 15.2% 0 - - - - - IGSF9 57549 genome.wustl.edu 37 1 159901641 159901641 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001135050.1 -1 validated p.S441 0.995 118 0% 117 42.7% 3 0% - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 HMCN1 83872 genome.wustl.edu 37 1 186092304 186092304 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_031935.2 +1 reviewed p.A4151T 0.927 197 0% 136 15.4% 0 - benign(0.021) tolerated(0.48) neutral(0.011) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LHX9 56956 genome.wustl.edu 37 1 197889121 197889121 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020204.2 +1 reviewed p.P65L 1.000 101 0% 104 40.4% 0 - possibly_damaging(0.661) deleterious(0.02) deleterious(0.617) superfamily_Glucocorticoid receptor-like (DNA-binding domain) ADORA1 134 genome.wustl.edu 37 1 203134594 203134594 + Missense_Mutation SNP T T G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000674.2 +1 reviewed p.F183V 1.000 72 0% 57 26.3% 0 - possibly_damaging(0.555) deleterious(0) deleterious(0.634) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ATP2B4 493 genome.wustl.edu 37 1 203668778 203668778 + Frame_Shift_Del DEL A A - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001684.3 +1 reviewed p.N195fs 0.974 - - - - - - - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M RAB7L1 8934 genome.wustl.edu 37 1 205740628 205740628 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001135662.1 -1 validated p.P117L 0.816 493 0% 720 16.3% 0 - benign(0.059) deleterious(0.01) neutral(0.410) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPN14 5784 genome.wustl.edu 37 1 214576291 214576292 + Frame_Shift_Ins INS - - A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005401.4 -1 reviewed p.L172fs 1.000:1.000 - - - - - - - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 RAB3GAP2 25782 genome.wustl.edu 37 1 220355697 220355697 + Splice_Site SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_012414.3 -1 reviewed e21-1 1.000 217 0.5% 454 14.8% 0 - - - - - ARF1 375 genome.wustl.edu 37 1 228285405 228285405 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001024226.1 +1 reviewed p.A125T 1.000 47 0% 41 39% 305 27.2% possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases SIPA1L2 57568 genome.wustl.edu 37 1 232619570 232619570 + Missense_Mutation SNP A A C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020808.3 -1 validated p.F650C 1.000 204 0% 236 49.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) KIAA1804 84451 genome.wustl.edu 37 1 233514819 233514819 + Nonsense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_032435.2 +1 validated p.W689* 0.898 191 0% 206 34.5% 2 0% - - - NULL MAP1LC3C 440738 genome.wustl.edu 37 1 242159597 242159597 + Silent SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001004343.2 -1 validated p.I104 0.999 97 0% 113 39.8% 0 - - - - HMMPfam_MAP1_LC3,superfamily_SSF54236 CNST 163882 genome.wustl.edu 37 1 246810609 246810609 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_152609.2 +1 validated p.A369V 0.006 344 0% 211 14.2% 12 0% possibly_damaging(0.661) deleterious(0.04) deleterious(0.583) NULL ALLC 55821 genome.wustl.edu 37 2 3749152 3749154 + In_Frame_Del DEL GAA GAA - rs66473381 byCluster;by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018436.3 +1 validated p.E303in_frame_del 0.959:0.973:0.963 - - - - - - - - - superfamily_Gal_bind_like,HMMPfam_Allantoicase TAF1B 9014 genome.wustl.edu 37 2 10045015 10045015 + Nonsense_Mutation SNP A A T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005680.2 +1 reviewed p.K279* 0.189 89 0% 174 31.6% 3 0% - - - NULL C2orf44 80304 genome.wustl.edu 37 2 24261271 24261271 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_025203.2 -1 validated p.L365S 1.000 219 0% 260 41.2% 0 - possibly_damaging(0.911) tolerated(0.08) deleterious(0.663) NULL PLB1 151056 genome.wustl.edu 37 2 28802500 28802500 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_153021.4 +1 validated p.H498Y 0.913 134 0% 157 42% 0 - benign(0.046) deleterious(0.01) neutral(0.408) HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase ALK 238 genome.wustl.edu 37 2 29449904 29449904 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004304.3 -1 reviewed p.Y984C 1.000 272 0% 229 19.2% 0 - probably_damaging(0.987) tolerated(0.17) deleterious(0.495) NULL EPAS1 2034 genome.wustl.edu 37 2 46574123 46574123 + Silent SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001430.4 +1 reviewed p.S46 0.893 95 0% 137 26.3% 5 0% - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic EXOC6B 23233 genome.wustl.edu 37 2 72742248 72742248 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015189.1 -1 validated p.R308L 1.000 40 0% 50 14% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL TET3 200424 genome.wustl.edu 37 2 74320716 74320716 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_144993.1 +1 provisional p.A929T 1.000 48 0% 39 38.5% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL IGKV1D-8 28904 genome.wustl.edu 37 2 90259797 90259797 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000471857 +1 known p.Q8H 0.170 301 0% 300 39.3% 3 0% benign(0.086) tolerated(0.15) neutral(0.247) NULL TEKT4 150483 genome.wustl.edu 37 2 95542422 95542422 + Missense_Mutation SNP G G C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_144705.2 +1 provisional p.A406P 0.548 47 0% 25 32% 4 0% benign(0.026) deleterious(0.02) neutral(0.384) HMMPfam_Tektin R3HDM1 23518 genome.wustl.edu 37 2 136396589 136396589 + Silent SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000429703 +1 known p.E61* 0.946 248 0% 293 46.8% 4 0% - - - NULL ACVR1 90 genome.wustl.edu 37 2 158617533 158617533 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001105.4 -1 reviewed p.R375C 1.000 123 0% 165 23% 10 10% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Kinase_like,HMMPfam_Pkinase DPP4 1803 genome.wustl.edu 37 2 162865770 162865770 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001935.3 -1 reviewed p.R623Q 0.996 249 0% 316 31.6% 7 28.5% possibly_damaging(0.931) deleterious(0.01) deleterious(0.783) HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER,superfamily_alpha/beta-Hydrolases TTN 7273 genome.wustl.edu 37 2 179418438 179418438 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000356127 -1 known p.A27195V 1.000 153 0% 134 12.7% 0 - probably_damaging(0.99) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179596486 179596486 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000356127 -1 known p.E4462K 0.826 225 0% 221 21.7% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set CALCRL 10203 genome.wustl.edu 37 2 188223835 188223835 + Silent SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005795.4 -1 validated p.T288 0.016 205 0% 295 13.9% 0 - - - - HMMPfam_7tm_2 CHPF 79586 genome.wustl.edu 37 2 220405041 220405041 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_024536.5 -1 validated p.T464 0.474 19 0% 59 20.3% 136 11% - - - HMMPfam_CHGN DOCK10 55619 genome.wustl.edu 37 2 225717807 225717807 + Missense_Mutation SNP G G T rs181363845 by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_014689.2 -1 validated p.P641T 1.000 117 0% 170 36.5% 0 - possibly_damaging(0.935) tolerated(0.28) neutral(0.412) NULL NCL 4691 genome.wustl.edu 37 2 232325406 232325420 + In_Frame_Del DEL TCATCATCTTCATCA TCATCATCTTCATCA - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 TCATCATCTTCATCA TCATCATCTTCATCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005381.2 -1 reviewed p.DDEDD257in_frame_del 0.705:0.700:0.008:0.111:0.126:0.002:0.942:0.946:0.015:0.755:0.774:0.002:0.413:0.424:0.000 - - - - - - - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233704621 233704621 + Frame_Shift_Del DEL G G - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001103147.1 +1 reviewed p.L965fs 0.002 - - - - - - - - - NULL ITPR1 3708 genome.wustl.edu 37 3 4725354 4725354 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001099952.2 +1 reviewed p.Q1115K 1.000 542 0% 602 36.7% 0 - benign(0.187) deleterious(0.03) neutral(0.382) NULL TMEM43 79188 genome.wustl.edu 37 3 14174081 14174081 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_024334.2 +1 reviewed p.T143M 0.998 36 0% 23 30.4% 15 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_DUF1625 CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913400 byCluster TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001098209.1 +1 reviewed p.S33F 1.000 46 0% 112 38.4% 36 13.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IP6K1 9807 genome.wustl.edu 37 3 49764946 49764946 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_153273.3 -1 reviewed p.L312P 1.000 91 0% 64 32.8% 10 10% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_IPK,superfamily_SAICAR synthase-like PRKCD 5580 genome.wustl.edu 37 3 53215569 53215569 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_006254.3 +1 reviewed p.I162 0.643 151 0% 103 12.6% 18 22.2% - - - HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 FLNB 2317 genome.wustl.edu 37 3 58108869 58108869 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001457.3 +1 reviewed p.A1059V 1.000 182 0% 141 40.4% 4 0% possibly_damaging(0.875) deleterious(0.01) deleterious(0.746) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin SUCLG2 8801 genome.wustl.edu 37 3 67548645 67548645 + Missense_Mutation SNP C C G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003848.3 -1 reviewed p.D278H 1.000 104 0% 129 41.1% 15 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF56059 ATR 545 genome.wustl.edu 37 3 142224146 142224146 + Splice_Site SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001184.3 -1 reviewed e29-1 1.000 231 0% 360 40% 4 100% - - - - PLD1 5337 genome.wustl.edu 37 3 171455752 171455752 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_002662.3 -1 validated p.T30 0.214 101 0% 156 17.3% 0 - - - - NULL EIF4G1 1981 genome.wustl.edu 37 3 184041616 184041616 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_182917.3 +1 reviewed p.M775V 1.000 123 0% 161 45.3% 30 10% possibly_damaging(0.9) deleterious(0.05) deleterious(0.702) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat FAM193A 8603 genome.wustl.edu 37 4 2659552 2659552 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003704.3 +1 validated p.R154H 1.000 268 0% 486 17.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABLIM2 84448 genome.wustl.edu 37 4 8037979 8037979 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001130083.1 -1 validated p.A315V 0.999 43 0% 58 15.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DRD5 1816 genome.wustl.edu 37 4 9784905 9784905 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000798.4 +1 reviewed p.V418I 0.960 113 0% 103 46.6% 0 - benign(0.038) tolerated(0.43) neutral(0.015) NULL BOD1L 259282 genome.wustl.edu 37 4 13571696 13571696 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_148894.2 -1 validated p.G3032V 0.157 36 0% 64 12.5% 4 0% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL SLIT2 9353 genome.wustl.edu 37 4 20525450 20525450 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004787.1 +1 provisional p.L400I 1.000 309 0% 493 36.5% 0 - possibly_damaging(0.697) tolerated(0.09) deleterious(0.546) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like DCLK2 166614 genome.wustl.edu 37 4 151023705 151023705 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001040260.2 +1 validated p.S166Y 1.000 190 0% 286 13.6% 0 - possibly_damaging(0.76) deleterious(0.03) deleterious(0.645) superfamily_Doublecortin (DC) FHDC1 85462 genome.wustl.edu 37 4 153893580 153893580 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_033393.2 +1 validated p.D424Y 0.610 124 0% 94 10.6% 1 0% benign(0.302) deleterious(0.02) deleterious(0.477) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd UFSP2 55325 genome.wustl.edu 37 4 186336330 186336330 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000511485 -1 known p.P135S 0.877 72 1.4% 211 43.6% 10 50% - - - NULL IRX1 79192 genome.wustl.edu 37 5 3599574 3599574 + Missense_Mutation SNP T T A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_024337.3 +1 validated p.L171H 1.000 35 0% 28 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 AGXT2 64902 genome.wustl.edu 37 5 35025869 35025869 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_031900.3 -1 reviewed p.E321G 1.000 87 0% 70 38.6% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3,superfamily_PyrdxlP-dep_Trfase_major C5orf51 285636 genome.wustl.edu 37 5 41917324 41917324 + Nonsense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_175921.4 +1 validated p.G270* 1.000 141 0% 250 39.6% 0 - - - - NULL CCNO 10309 genome.wustl.edu 37 5 54527286 54527286 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_021147.3 -1 validated p.V324M 1.000 16 0% 21 57.1% 26 34.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00385,superfamily_Cyclin-like PIK3R1 5295 genome.wustl.edu 37 5 67589224 67589225 + Frame_Shift_Del DEL AA AA - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_181523.1 +1 reviewed p.L404fs 1.000:1.000 - - - - - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67589227 67589227 + Frame_Shift_Del DEL A A - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_181523.1 +1 reviewed p.N406fs 1.000 - - - - - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain SNX2 6643 genome.wustl.edu 37 5 122152722 122152722 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003100.2 +1 reviewed p.A304V 1.000 50 0% 55 18.2% 30 20% benign(0.003) tolerated(0.53) neutral(0.007) HMMPfam_Vps5 ZNF608 57507 genome.wustl.edu 37 5 123984315 123984315 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020747.2 -1 validated p.E588K 1.000 277 0% 234 31.2% 0 - possibly_damaging(0.892) deleterious(0.02) deleterious(0.734) NULL PCDHA12 56137 genome.wustl.edu 37 5 140255672 140255672 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018903.2 +1 reviewed p.T205 0.000 104 0% 75 37.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744632 140744632 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018918.2 +1 reviewed p.S245 0.000 118 0% 116 31.9% 0 - - - - superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140764619 140764619 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018920.2 +1 reviewed p.R718H 0.979 88 0% 57 36.8% 1 0% possibly_damaging(0.496) tolerated(0.15) neutral(0.406) NULL PCDHGB5 56101 genome.wustl.edu 37 5 140779911 140779911 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018925.2 +1 reviewed p.Y739 0.997 277 0% 235 44.3% 0 - - - - NULL RBM27 54439 genome.wustl.edu 37 5 145641185 145641185 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018989.1 +1 validated p.V669A 0.998 203 0% 308 11.4% 2 0% possibly_damaging(0.792) deleterious(0) deleterious(0.742) HMMSmart_RRM,superfamily_SSF54928 SERPINB9 5272 genome.wustl.edu 37 6 2890552 2890552 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004155.4 -1 validated p.G326C 1.000 261 0% 330 17.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SLC22A23 63027 genome.wustl.edu 37 6 3298418 3298418 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015482.1 -1 validated p.T373A 1.000 106 0% 130 23.1% 1 0% possibly_damaging(0.862) tolerated(0.12) deleterious(0.594) HMMPfam_MFS_1,superfamily_MFS general substrate transporter HIVEP1 3096 genome.wustl.edu 37 6 12121524 12121524 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_002114.2 +1 validated p.G499V 0.496 131 0% 134 11.9% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL OR2J1 442185 genome.wustl.edu 37 6 29068859 29068859 + Missense_Mutation SNP T T G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000377171 +1 known p.I47S 0.033 445 0% 506 14.2% 0 - benign(0.258) deleterious(0) deleterious(0.472) HMMPfam_7tm_1,superfamily_SSF81321 OR10C1 442194 genome.wustl.edu 37 6 29385295 29385295 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000383554 +1 known p.L80P 0.980 260 0.4% 190 18.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PPP1R18 170954 genome.wustl.edu 37 6 30644948 30644948 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000376424 -1 known p.A341T 0.987 34 0% 33 21.2% 23 17.3% unknown(0) - - NULL KHDRBS2 202559 genome.wustl.edu 37 6 62757794 62757794 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_152688.2 -1 validated p.D109Y 1.000 210 0.5% 361 41% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 SYNE1 23345 genome.wustl.edu 37 6 152546854 152546854 + Splice_Site SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_182961.2 -1 reviewed e114+2 1.000 224 0% 364 16.8% 0 - - - - - PARK2 5071 genome.wustl.edu 37 6 161781215 161781215 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004562.2 -1 reviewed p.A397V 0.261 127 0% 160 30.6% 0 - possibly_damaging(0.952) tolerated(0.1) deleterious(0.682) NULL SNX8 29886 genome.wustl.edu 37 7 2309275 2309275 + Splice_Site SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_013321.1 -1 provisional e5-1 1.000 38 0% 70 10% 0 - - - - - TNRC18 84629 genome.wustl.edu 37 7 5352659 5352659 + Missense_Mutation SNP G G T rs138591330 by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000399544 -1 known p.P1134H 0.007 4 0.000 11 0.455 8 62.5% unknown(0) deleterious(0) - NULL HOXA1 3198 genome.wustl.edu 37 7 27135011 27135011 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005522.4 -1 reviewed p.A174V 1.000 69 0% 94 43.6% 0 - possibly_damaging(0.507) deleterious(0.05) deleterious(0.515) NULL MYL7 58498 genome.wustl.edu 37 7 44179974 44179974 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_021223.2 -1 validated p.K82N 1.000 62 0% 58 13.8% 0 - benign(0.096) deleterious(0.02) neutral(0.390) superfamily_SSF47473 COBL 23242 genome.wustl.edu 37 7 51111282 51111282 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015198.3 -1 validated p.D402N 1.000 87 0% 73 41.1% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TYW1 55253 genome.wustl.edu 37 7 66474576 66474576 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018264.2 +1 validated p.A94T 1.000 60 0% 156 12.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Flavodoxin_1,superfamily_Flavoproteins CYP3A7 1551 genome.wustl.edu 37 7 99293381 99293382 + Frame_Shift_Ins INS - - A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000292414 -1 known p.C529fs 0.000:0.001 - - - - - - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101839955 101839955 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_181552.2 +1 reviewed p.R422C 1.000 68 0% 84 46.4% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL CALD1 800 genome.wustl.edu 37 7 134632347 134632347 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_033138.3 +1 reviewed p.R541C 0.993 23 0% 14 28.6% 26 3.8% unknown(0) deleterious(0) - HMMPfam_Caldesmon NUP205 23165 genome.wustl.edu 37 7 135322802 135322802 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015135.2 +1 validated p.Q1754* 1.000 157 0% 193 14.5% 11 0% - - - NULL CNTNAP2 26047 genome.wustl.edu 37 7 147926830 147926830 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_014141.5 +1 reviewed p.S1114G 0.972 295 0.3% 445 16% 0 - benign(0.006) tolerated(0.34) neutral(0.023) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LMBR1 64327 genome.wustl.edu 37 7 156556476 156556476 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_022458.3 -1 reviewed p.R146H 1.000 202 0% 220 33.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LMBR1 CHD7 55636 genome.wustl.edu 37 8 61750309 61750309 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_017780.2 +1 reviewed p.E1423G 1.000 59 0% 141 39% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases ARFGEF1 10565 genome.wustl.edu 37 8 68178397 68178397 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_006421.3 -1 reviewed p.P656H 1.000 100 0% 147 40.1% 0 - benign(0.005) tolerated(0.13) neutral(0.253) superfamily_ARM-type_fold TCEB1 6921 genome.wustl.edu 37 8 74858948 74858948 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005648.2 -1 reviewed p.S86G 1.000 37 0% 42 47.6% 143 41.9% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMSmart_SM00512,superfamily_POZ domain CSMD3 114788 genome.wustl.edu 37 8 113314056 113314056 + Silent SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_198123.1 -1 validated p.S2802 0.783 102 0% 145 35.2% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CPSF1 29894 genome.wustl.edu 37 8 145624189 145624189 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_013291.2 -1 validated p.A540T 0.858 34 0% 30 20% 21 4.7% benign(0.007) tolerated(0.34) neutral(0.023) NULL LOC645225 645225 genome.wustl.edu 37 9 79655355 79655355 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 XM_928264.1 +1 model p.K8N 0.019 52 0% 99 18.2% 0 - - - - NULL TLE1 7088 genome.wustl.edu 37 9 84205949 84205949 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005077.3 -1 provisional p.R534C 1.000 218 0% 204 39.7% 21 23.8% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ALDOB 229 genome.wustl.edu 37 9 104189860 104189860 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000035.3 -1 reviewed p.W148* 1.000 95 0% 125 34.4% 1 0% - - - HMMPfam_Glycolytic,superfamily_Aldolase MUSK 4593 genome.wustl.edu 37 9 113431247 113431247 + Silent SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005592.3 +1 reviewed p.T21 0.990 550 0% 613 20.2% 0 - - - - NULL SPTAN1 6709 genome.wustl.edu 37 9 131374064 131374064 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001130438.1 +1 validated p.I1615 0.010 50 0% 42 21.4% 22 4.5% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin FNBP1 23048 genome.wustl.edu 37 9 132662338 132662338 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015033.2 -1 reviewed p.E531D 0.944 224 0% 263 39.9% 3 0% benign(0.381) tolerated(0.34) neutral(0.144) NULL PRRC2B 84726 genome.wustl.edu 37 9 134363387 134363387 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000320547 +1 known p.A50T 1.000 83 0% 64 43.8% 15 6.6% - - - NULL TAF3 83860 genome.wustl.edu 37 10 8007652 8007653 + Frame_Shift_Ins INS - - AG novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_031923.2 +1 provisional p.R730fs 0.997:0.687 - - - - - - - - - NULL ANKRD26 22852 genome.wustl.edu 37 10 27301963 27301963 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_014915.2 -1 validated p.L1601F 0.000 110 0% 150 12.7% 5 0% benign(0.027) tolerated(0.28) neutral(0.033) NULL ANKRD26 22852 genome.wustl.edu 37 10 27382727 27382727 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_014915.2 -1 validated p.T82A 1.000 82 0% 99 11.1% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ARID5B 84159 genome.wustl.edu 37 10 63845590 63845591 + Frame_Shift_Ins INS - - ATCAAACA novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_032199.2 +1 validated p.H445fs 1.000:0.998 - - - - - - - - - NULL AIFM2 84883 genome.wustl.edu 37 10 71880940 71880940 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_032797.4 -1 reviewed p.A108T 1.000 62 0% 46 32.6% 14 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain KAT6B 23522 genome.wustl.edu 37 10 76788703 76788703 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_012330.2 +1 validated p.G1374E 0.003 357 0% 305 40.3% 1 0% benign(0) tolerated(0.44) neutral(0.013) NULL FAM190B 54462 genome.wustl.edu 37 10 86273357 86273357 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000372088 +1 known p.H826 0.000 145 0% 167 41.9% 20 50% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000371953 +1 known p.T319fs 1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 GBF1 8729 genome.wustl.edu 37 10 104019816 104019816 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004193.1 +1 provisional p.R36W 1.000 93 1.1% 242 20.7% 3 0% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL NEURL 9148 genome.wustl.edu 37 10 105331311 105331311 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004210.4 +1 validated p.S127 1.000 17 0% 28 35.7% 0 - - - - HMMPfam_Neuralized,HMMSmart_SM00588 ADD3 120 genome.wustl.edu 37 10 111883976 111883976 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_016824.3 +1 reviewed p.V449M 1.000 234 0% 434 39.6% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZDHHC6 64429 genome.wustl.edu 37 10 114205046 114205046 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_022494.1 -1 provisional p.H50R 1.000 84 0% 82 36.6% 13 53.8% benign(0.004) tolerated(0.37) neutral(0.019) NULL DMBT1 1755 genome.wustl.edu 37 10 124402857 124402857 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_007329.2 +1 reviewed p.V2395 0.003 58 0% 55 36.4% 26 23% - - - NULL CYP2E1 1571 genome.wustl.edu 37 10 135350744 135350744 + Missense_Mutation SNP T T G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000773.3 +1 reviewed p.L382R 0.017 65 0% 43 32.6% 1 0% possibly_damaging(0.898) deleterious(0.05) deleterious(0.700) HMMPfam_p450,superfamily_Cytochrome_P450 RIC8A 60626 genome.wustl.edu 37 11 212920 212920 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_021932.4 +1 provisional p.E438K 0.961 65 0% 36 16.7% 33 0% possibly_damaging(0.659) tolerated(0.18) neutral(0.289) HMMPfam_Ric8 TRPM5 29850 genome.wustl.edu 37 11 2427891 2427891 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_014555.3 -1 validated p.R1084I 1.000 30 0% 35 25.7% 0 - unknown(0) deleterious(0.02) - NULL TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5626691 5626691 + Missense_Mutation SNP T T A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001003819.2 +1 reviewed p.I243N 0.002 185 0% 345 38.6% 0 - possibly_damaging(0.819) tolerated(0.54) neutral(0.317) NULL RRP8 23378 genome.wustl.edu 37 11 6623126 6623126 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015324.2 -1 provisional p.A140V 0.000 67 0% 83 44.6% 8 12.5% benign(0) tolerated(0.22) neutral(0.042) NULL ST5 6764 genome.wustl.edu 37 11 8737214 8737214 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005418.3 -1 reviewed p.N594S 0.036 41 0% 59 52.5% 9 0% benign(0.018) tolerated(0.85) neutral(0.001) NULL INTS5 80789 genome.wustl.edu 37 11 62417429 62417429 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_030628.1 -1 provisional p.G41 0.001 96 0% 82 43.9% 1 100% - - - NULL GSTP1 2950 genome.wustl.edu 37 11 67353638 67353638 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000398606 +1 known p.L134 1.000 42 0% 39 10.3% 1424 18.6% - - - HMMPfam_GST_C,superfamily_GST_C_like ODZ4 26011 genome.wustl.edu 37 11 78413262 78413262 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001098816.2 -1 validated p.T1466A 1.000 147 0% 84 50% 1 0% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) superfamily_SSF101898,superfamily_TolB_C NCAM1 4684 genome.wustl.edu 37 11 113078005 113078005 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000401611 +1 known p.R99 1.000 190 0% 161 17.4% 0 - - - - HMMPfam_I-set,superfamily_SSF48726 ENSG00000246407 0 genome.wustl.edu 37 12 8384474 8384474 + RNA SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000499592 -1 known NULL 0.001 20 0% 36 19.4% 2 100% - - - - DDX47 51202 genome.wustl.edu 37 12 12975622 12975622 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_016355.3 +1 reviewed p.R197* 1.000 243 0.4% 332 16% 23 0% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PDE3A 5139 genome.wustl.edu 37 12 20783002 20783002 + Frame_Shift_Del DEL C C - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000921.3 +1 validated p.Y567fs 0.899 - - - - - - - - - NULL DBX2 440097 genome.wustl.edu 37 12 45417499 45417499 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001004329.2 -1 validated p.K226N 1.000 314 0% 514 10.7% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 PLEKHA8P1 51054 genome.wustl.edu 37 12 45567091 45567091 + Missense_Mutation SNP G G A rs180755151 by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015899.1 -1 provisional p.A353V 0.942 231 0.4% 223 36.8% 7 28.5% - - - HMMPfam_GLTP,superfamily_Glycolipid_transfer_prot BAZ2A 11176 genome.wustl.edu 37 12 56999093 56999093 + Nonsense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_013449.3 -1 validated p.R840* 1.000 89 0% 103 45.6% 1 0% - - - NULL THAP2 83591 genome.wustl.edu 37 12 72070565 72070565 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_031435.2 +1 provisional p.L122F 0.999 109 0% 179 39.1% 2 50% benign(0.201) deleterious(0) neutral(0.464) NULL KCNC2 3747 genome.wustl.edu 37 12 75444552 75444552 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_139137.2 -1 reviewed p.N411 0.996 218 0% 201 39.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SPIC 121599 genome.wustl.edu 37 12 101871356 101871356 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_152323.1 +1 provisional p.K8 0.972 181 0% 252 16.3% 0 - - - - NULL ASCL1 429 genome.wustl.edu 37 12 103352373 103352373 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004316.3 +1 reviewed p.P117 1.000 4 0.000 15 0.600 0 - - - - superfamily_HLH helix-loop-helix DNA-binding domain USP30 84749 genome.wustl.edu 37 12 109523683 109523683 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_032663.3 +1 validated p.R501C 1.000 142 0% 81 18.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 MTUS2 23281 genome.wustl.edu 37 13 29675049 29675049 + Silent SNP A A T rs140464903 by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001033602.2 +1 validated p.S872 0.002 4 0.000 10 0.900 2 0% - - - NULL DCLK1 9201 genome.wustl.edu 37 13 36396898 36396898 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004734.3 -1 validated p.V508I 1.000 172 0% 218 39.4% 0 - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase ENSG00000247181 0 genome.wustl.edu 37 13 76100799 76100799 + RNA SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000499458 +1 known NULL 0.036 109 0% 266 38.3% 1 0% - - - - TUBGCP3 10426 genome.wustl.edu 37 13 113153228 113153228 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000375669 -1 known p.V824A 0.000 69 0% 79 21.5% 0 - unknown(0) - - NULL AP1G2 8906 genome.wustl.edu 37 14 24033004 24033004 + Nonsense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003917.2 -1 reviewed p.E385* 1.000 209 0% 190 42.6% 26 30.7% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold LRRC16B 90668 genome.wustl.edu 37 14 24534241 24534241 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_138360.3 +1 validated p.R1052H 0.996 36 0% 62 33.9% 0 - unknown(0) deleterious(0.03) - NULL PTGDR 5729 genome.wustl.edu 37 14 52734971 52734971 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000953.2 +1 reviewed p.R147C 0.919 105 0% 73 15.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 SYNDIG1L 646658 genome.wustl.edu 37 14 74874573 74874573 + Silent SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001105579.1 -1 validated p.A179 0.810 61 0% 51 41.2% 0 - - - - HMMPfam_CD225 EML1 2009 genome.wustl.edu 37 14 100375726 100375726 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001008707.1 +1 reviewed p.D402 1.000 123 0% 160 19.4% 0 - - - - HMMSmart_WD40,superfamily_WD40_like IGHV1-58 28464 genome.wustl.edu 37 14 107078377 107078377 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000390628 -1 known p.A116V 0.990 379 0% 426 21.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 FAN1 22909 genome.wustl.edu 37 15 31197599 31197599 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_014967.4 +1 reviewed p.T245A 0.000 81 0% 79 15.2% 1 0% benign(0.01) tolerated(0.22) neutral(0.043) NULL OTUD7A 161725 genome.wustl.edu 37 15 31795941 31795941 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_130901.1 -1 provisional p.P318L 1.000 160 0% 124 39.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_OTU MGA 23269 genome.wustl.edu 37 15 42053974 42053974 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001080541.2 +1 validated p.D2528G 1.000 30 0% 65 16.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain SLC28A2 9153 genome.wustl.edu 37 15 45560513 45560513 + Silent SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004212.3 +1 validated p.A435 0.994 165 0% 203 40.9% 2 0% - - - HMMPfam_Nucleos_tra2_C TRPM7 54822 genome.wustl.edu 37 15 50931722 50931722 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_017672.4 -1 reviewed p.A187T 1.000 77 0% 239 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100289289 100289289 genome.wustl.edu 37 15 62547534 62547534 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 XM_002343368.1 -1 model p.R630W 0.004 77 0% 50 34% 0 - - - - NULL PIF1 80119 genome.wustl.edu 37 15 65113621 65113621 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_025049.2 -1 validated p.D306N 1.000 98 0% 113 41.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases IGF1R 3480 genome.wustl.edu 37 15 99454554 99454554 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000875.3 +1 reviewed p.D491 0.774 125 0% 102 32.4% 2 0% - - - HMMSmart_FN3,superfamily_FN_III-like PGPEP1L 145814 genome.wustl.edu 37 15 99511804 99511805 + Frame_Shift_Ins INS - - C rs5814919 byCluster;by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001102612.2 -1 validated p.V165fs 0.897:0.907 - - - - - - - - - superfamily_Pyrrolidone carboxyl peptidase (pyroglutamate aminopeptidase) PGPEP1L 145814 genome.wustl.edu 37 15 99512805 99512805 + Silent SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001102612.2 -1 validated p.R74 0.002 135 0% 178 41% 0 - - - - superfamily_Pyrrolidone carboxyl peptidase (pyroglutamate aminopeptidase) TEKT5 146279 genome.wustl.edu 37 16 10769978 10769979 + Frame_Shift_Ins INS - - T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_144674.1 -1 provisional p.N308fs 1.000:1.000 - - - - - - - - - HMMPfam_Tektin GTF3C1 2975 genome.wustl.edu 37 16 27481651 27481651 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001520.3 -1 validated p.R1531Q 0.112 328 0.3% 308 36.7% 8 50% possibly_damaging(0.612) tolerated(0.34) neutral(0.235) NULL XPO6 23214 genome.wustl.edu 37 16 28188616 28188616 + Silent SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_015171.2 -1 provisional p.A44 0.998 78 0% 158 36.7% 2 0% - - - HMMPfam_IBN_N,superfamily_ARM repeat TUFM 7284 genome.wustl.edu 37 16 28854319 28854319 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003321.4 -1 reviewed p.E449K 1.000 232 0% 229 18.3% 239 16.7% benign(0.001) tolerated(0.07) neutral(0.319) superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain ITGAX 3687 genome.wustl.edu 37 16 31383721 31383721 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000887.3 +1 reviewed p.T728I 0.999 116 0% 112 11.6% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Integrin_alpha2,superfamily_SSF69179 NIP7 51388 genome.wustl.edu 37 16 69373951 69373951 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_016101.3 +1 validated p.G33 1.000 70 0% 74 20.3% 12 33.3% - - - superfamily_Pre-PUA domain ZFHX3 463 genome.wustl.edu 37 16 72831543 72831544 + Frame_Shift_Ins INS - - T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_006885.3 -1 reviewed p.L1679fs 0.286:0.073 - - - - - - - - - NULL MLKL 197259 genome.wustl.edu 37 16 74726248 74726248 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_152649.2 -1 validated p.L176S 0.001 91 0% 144 16.7% 1 0% possibly_damaging(0.816) deleterious(0.01) deleterious(0.714) superfamily_Protein kinase-like (PK-like) GAN 8139 genome.wustl.edu 37 16 81390594 81390596 + In_Frame_Del DEL GGA GGA - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_022041.3 +1 reviewed p.G280in_frame_del 1.000:1.000:0.592 - - - - - - - - - HMMSmart_Kelch,superfamily_Gal_oxid_central TSR1 55720 genome.wustl.edu 37 17 2236962 2236962 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_018128.4 -1 validated p.L344I 0.906 62 0% 118 15.3% 7 0% benign(0.045) tolerated(0.09) neutral(0.299) NULL PSMB6 5694 genome.wustl.edu 37 17 4700732 4700732 + Splice_Site SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_002798.1 +1 reviewed e3-1 1.000 267 0% 370 40.5% 0 - - - - - GP1BA 2811 genome.wustl.edu 37 17 4837450 4837450 + Silent SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000173.5 +1 reviewed p.N504 0.000 233 0.4% 421 40.9% 0 - - - - NULL FBXO39 162517 genome.wustl.edu 37 17 6683671 6683671 + Frame_Shift_Del DEL A A - novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_153230.2 +1 validated p.K162fs 1.000 - - - - - - - - - superfamily_SSF52047 ACADVL 37 genome.wustl.edu 37 17 7124096 7124096 + Nonsense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000018.2 +1 reviewed p.E97* 1.000 73 0% 54 31.5% 34 17.6% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like TOP3A 7156 genome.wustl.edu 37 17 18210229 18210229 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000412083 -1 known p.P102S 0.999 36 0% 91 30.8% 2 0% - - - superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim PEX12 5193 genome.wustl.edu 37 17 33904176 33904176 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000286.2 -1 reviewed p.Q187 0.999 176 0% 218 31.7% 3 66.6% - - - HMMPfam_Pex2_Pex12 ACACA 31 genome.wustl.edu 37 17 35605050 35605050 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_198834.1 -1 reviewed p.V732M 1.000 87 0% 126 31% 0 - possibly_damaging(0.609) deleterious(0) deleterious(0.655) NULL CDK12 51755 genome.wustl.edu 37 17 37646925 37646925 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_016507.2 +1 validated p.P683T 1.000 89 0% 170 27.6% 0 - unknown(0) tolerated(0.06) - NULL ERBB2 2064 genome.wustl.edu 37 17 37879613 37879613 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004448.2 +1 reviewed p.L663P 0.998 54 0% 71 39.4% 16 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAD51C 5889 genome.wustl.edu 37 17 56811555 56811555 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_058216.1 +1 reviewed p.R368Q 1.000 60 0% 116 32.8% 10 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SCN4A 6329 genome.wustl.edu 37 17 62018349 62018349 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000334.4 -1 reviewed p.A1765T 0.693 72 0% 47 46.8% 0 - benign(0.098) tolerated(0.38) neutral(0.025) NULL KIF19 124602 genome.wustl.edu 37 17 72324649 72324650 + Frame_Shift_Ins INS - - C rs11412158 byCluster;by1000genomes TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000440684 +1 known p.R320fs 0.000:0.000 - - - - - - - - - NULL C17orf56 146705 genome.wustl.edu 37 17 79202839 79202839 + Silent SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_144679.1 -1 predicted p.A489 0.000 12 0% 24 33.3% 16 37.5% - - - NULL ALYREF 10189 genome.wustl.edu 37 17 79848604 79848604 + Silent SNP C C G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005782.3 -1 reviewed p.V110 0.998 27 0% 45 17.8% 61 9.8% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SLC14A1 6563 genome.wustl.edu 37 18 43316498 43316498 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001128588.3 +1 reviewed p.A239V 0.990 217 0% 216 41.7% 2 0% benign(0.009) tolerated(0.41) neutral(0.015) HMMPfam_UT C18orf26 284254 genome.wustl.edu 37 18 52258443 52258443 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_173629.1 +1 predicted p.A3V 0.986 215 0% 261 15.7% 0 - possibly_damaging(0.568) - - NULL CDH20 28316 genome.wustl.edu 37 18 59166445 59166445 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_031891.2 +1 reviewed p.D91E 0.975 29 0% 39 41% 0 - benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ELAVL1 1994 genome.wustl.edu 37 19 8045966 8045966 + Splice_Site SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001419.2 -1 reviewed e2+1 1.000 56 0% 55 36.4% 0 - - - - - OR7D4 125958 genome.wustl.edu 37 19 9325166 9325166 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001005191.1 -1 provisional p.A116 0.001 311 0% 295 38.6% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like CARM1 10498 genome.wustl.edu 37 19 11022924 11022924 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_199141.1 +1 validated p.R208Q 0.975 105 0% 86 41.9% 15 20% possibly_damaging(0.825) tolerated(0.06) deleterious(0.635) HMMPfam_PrmA,superfamily_SSF53335 ZNF700 90592 genome.wustl.edu 37 19 12060496 12060496 + Missense_Mutation SNP T T A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_144566.1 +1 provisional p.Y553N 0.034 276 0% 271 33.9% 1 0% probably_damaging(0.98) tolerated(0.51) neutral(0.433) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC1A6 6511 genome.wustl.edu 37 19 15079134 15079134 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005071.1 -1 provisional p.A177T 1.000 51 0% 51 21.6% 0 - probably_damaging(1) tolerated(0.58) deleterious(0.505) HMMPfam_SDF ZNF91 7644 genome.wustl.edu 37 19 23544784 23544784 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_003430.2 -1 validated p.R333C 0.000 346 0.3% 540 36.3% 1 100% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RAB4B 53916 genome.wustl.edu 37 19 41289892 41289892 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_016154.3 +1 validated p.I114 0.999 32 0% 50 52% 23 13% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CYP2B7P1 1556 genome.wustl.edu 37 19 41448086 41448086 + RNA SNP C C G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NR_001278.1 +1 provisional NULL 0.657 327 0% 413 41.2% 0 - - - - - HNRNPUL1 11100 genome.wustl.edu 37 19 41808666 41808666 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_007040.3 +1 reviewed p.N595S 0.985 109 0% 124 17.7% 78 19.2% benign(0.37) tolerated(0.06) neutral(0.440) NULL ENSG00000229113 0 genome.wustl.edu 37 19 42027688 42027688 + Missense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000439847 -1 known p.R199M 0.961 278 0% 374 39.6% 0 - - - - NULL PRR19 284338 genome.wustl.edu 37 19 42813906 42813906 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_199285.2 +1 validated p.T57I 0.002 65 0% 65 13.8% 0 - possibly_damaging(0.765) deleterious(0.03) deleterious(0.648) NULL LHB 3972 genome.wustl.edu 37 19 49519392 49519392 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000894.2 -1 reviewed p.C120Y 0.998 29 0% 53 47.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_GHB,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_SSF57501 USP29 57663 genome.wustl.edu 37 19 57641940 57641940 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020903.2 +1 validated p.V633I 0.000 140 0% 154 40.9% 0 - possibly_damaging(0.616) tolerated(0.76) neutral(0.215) HMMPfam_UCH,superfamily_SSF54001 CTNNBL1 56259 genome.wustl.edu 37 20 36374973 36374973 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_030877.3 +1 reviewed p.Q144* 1.000 280 0% 240 15% 12 0% - - - HMMPfam_DUF1716,superfamily_ARM repeat RALGAPB 57148 genome.wustl.edu 37 20 37191217 37191217 + Missense_Mutation SNP T T A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020336.2 +1 validated p.F1192I 1.000 308 0% 406 41.1% 5 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_Rap/Ran-GAP (Pfam 02145) COL6A2 1292 genome.wustl.edu 37 21 47549156 47549156 + Silent SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_058174.2 +1 reviewed p.T836 1.000 7 0.000 28 0.286 33 0% - - - NULL UPB1 51733 genome.wustl.edu 37 22 24898107 24898107 + Missense_Mutation SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_016327.2 +1 reviewed p.H97R 1.000 368 0% 594 38% 0 - benign(0.053) tolerated(0.35) neutral(0.024) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase TMPRSS6 164656 genome.wustl.edu 37 22 37480305 37480305 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000442782 -1 known p.P418H 0.006 34 0% 34 23.5% 0 - unknown(0) deleterious(0) - superfamily_Spermadhesin CUB domain NCAPH2 29781 genome.wustl.edu 37 22 50957081 50957081 + Missense_Mutation SNP C C G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_152299.3 +1 reviewed p.T217S 0.003 4 0.000 8 0.625 14 35.7% benign(0) tolerated(0.73) neutral(0.002) HMMPfam_DUF1032 YY2 404281 genome.wustl.edu 37 X 21875591 21875591 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_206923.3 +1 reviewed p.T330I 0.998 384 0% 371 36.9% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ATP6AP2 10159 genome.wustl.edu 37 X 40460121 40460121 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005765.2 +1 reviewed p.E282D 0.969 69 0% 111 21.6% 107 42% possibly_damaging(0.662) tolerated(0.14) deleterious(0.484) HMMPfam_Renin_r SHROOM4 57477 genome.wustl.edu 37 X 50378303 50378303 + Missense_Mutation SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020717.3 -1 reviewed p.R257H 0.001 27 0% 28 21.4% 0 - benign(0.001) tolerated(0.35) neutral(0.021) NULL HUWE1 10075 genome.wustl.edu 37 X 53596773 53596773 + Silent SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000427052 -1 known p.S1143G 0.994 226 0% 177 38.4% 1 0% - - - superfamily_ARM repeat WNK3 65267 genome.wustl.edu 37 X 54264789 54264789 + Missense_Mutation SNP G G A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_020922.4 -1 reviewed p.R1334W 1.000 104 0% 202 19.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITGB1BP2 26548 genome.wustl.edu 37 X 70525033 70525033 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_012278.1 +1 provisional p.M345I 0.899 98 0% 99 21.2% 0 - unknown(0) deleterious(0) - NULL PLP1 5354 genome.wustl.edu 37 X 103041425 103041425 + Missense_Mutation SNP A A T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_000533.3 +1 reviewed p.T75S 1.000 352 0% 212 36.3% 0 - benign(0.139) deleterious(0) neutral(0.457) HMMPfam_Myelin_PLP ALG13 79868 genome.wustl.edu 37 X 110961461 110961461 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 ENST00000394780 +1 known p.S403 0.941 18 0% 34 47.1% 0 - - - - NULL KLHL13 90293 genome.wustl.edu 37 X 117079442 117079442 + Silent SNP A A G novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_033495.3 -1 reviewed p.P65 0.998 182 0% 235 13.2% 0 - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122755401 122755401 + Missense_Mutation SNP T T C novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_001081550.1 -1 validated p.K1275E 1.000 250 0% 306 44.8% 5 0% probably_damaging(0.982) tolerated(1) neutral(0.426) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130215714 130215714 + Missense_Mutation SNP G G T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_144967.3 +1 validated p.L25F 0.706 208 0% 167 46.1% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135790898 135790898 + Nonsense_Mutation SNP C C A novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_004840.2 -1 reviewed p.G287* 1.000 128 0% 164 34.1% 0 - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) MAGEA11 4110 genome.wustl.edu 37 X 148794847 148794847 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 NM_005366.4 +1 reviewed p.L10 0.001 88 0% 71 9.9% 0 - - - - NULL LOC100129236 100129236 genome.wustl.edu 37 X 150684583 150684583 + Silent SNP C C T novel TCGA-AP-A05N-01A-11W-A027-09 TCGA-AP-A05N-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a25f209c-c3df-4d7b-9934-d79a67ccefc1 68adaaa7-ce68-4c12-bfb2-ad1b14ee99f9 XM_001716550.1 +1 model p.D131 0.000 13 0% 13 46.2% 0 - - - - NULL