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 RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e EPHB2 2048 genome.wustl.edu 37 1 23240246 23240246 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000400191 +1 known p.G1017 0.270 230 0.9% 353 22.9% 0 - - - - NULL TCEB3 6924 genome.wustl.edu 37 1 24077452 24077452 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003198.2 +1 reviewed p.T145 0.237 67 0% 91 22% 1 0% - - - NULL ZMYM6 9204 genome.wustl.edu 37 1 35476599 35476599 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_007167.3 -1 validated p.A367 0.171 114 0% 74 18.9% 5 0% - - - NULL TRAPPC3 27095 genome.wustl.edu 37 1 36602873 36602873 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014408.3 -1 provisional p.D158 0.982 187 0% 247 14.6% 59 28.8% - - - HMMPfam_TRAPP TIE1 7075 genome.wustl.edu 37 1 43775103 43775103 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005424.2 +1 provisional p.F411 0.783 225 0% 320 19.4% 17 0% - - - HMMPfam_ig,superfamily_SSF48726 PTPRF 5792 genome.wustl.edu 37 1 44069586 44069586 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_002840.3 +1 reviewed p.N921K 1.000 52 0% 44 18.2% 17 0% probably_damaging(0.975) tolerated(0.11) deleterious(0.689) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CYP4A11 1579 genome.wustl.edu 37 1 47401210 47401210 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000778.3 -1 reviewed p.S207N 0.346 185 0% 226 16.4% 0 - benign(0.016) tolerated(1) neutral(0.001) HMMPfam_p450,superfamily_Cytochrome P450 DOCK7 85440 genome.wustl.edu 37 1 62953084 62953084 + Splice_Site SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_033407.2 -1 validated e42-1 1.000 140 0% 154 11% 0 - - - - - ANGPTL3 27329 genome.wustl.edu 37 1 63064423 63064423 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014495.2 +1 reviewed p.D184E 0.969 268 0% 72 8.3% 0 - benign(0.001) tolerated(1) - NULL WLS 79971 genome.wustl.edu 37 1 68615917 68615917 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001002292.2 -1 validated p.A307V 1.000 78 0% 64 29.7% 39 35.8% benign(0.226) deleterious(0.01) neutral(0.428) HMMPfam_DUF1171 GNAT2 2780 genome.wustl.edu 37 1 110146722 110146722 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005272.3 -1 reviewed p.R242H 1.000 160 0% 108 11.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases OVGP1 5016 genome.wustl.edu 37 1 111957935 111957935 + Nonsense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_002557.3 -1 reviewed p.W396* 0.000 62 0% 60 10% 29 3.4% - - - NULL NPR1 4881 genome.wustl.edu 37 1 153661546 153661546 + Silent SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000906.3 +1 validated p.A845 0.693 53 0% 63 14.3% 3 33.3% - - - HMMSmart_SM00044 ATP1A4 480 genome.wustl.edu 37 1 160144034 160144034 + Nonsense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_144699.3 +1 reviewed p.E709* 1.000 115 0% 163 9.8% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M RCSD1 92241 genome.wustl.edu 37 1 167666442 167666442 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_052862.3 +1 validated p.Q194R 1.000 103 0% 120 15% 4 0% probably_damaging(0.996) tolerated(0.2) deleterious(0.511) NULL CENPL 91687 genome.wustl.edu 37 1 173776423 173776423 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001127181.2 -1 validated p.P134 0.038 127 0% 126 11.1% 5 0% - - - NULL DHX9 1660 genome.wustl.edu 37 1 182823205 182823205 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001357.4 +1 reviewed p.H173R 1.000 218 0.5% 118 16.9% 7 28.5% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL CFHR4 10877 genome.wustl.edu 37 1 196871680 196871680 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006684.2 +1 validated p.S64L 0.000 213 0% 110 17.3% 0 - probably_damaging(0.983) deleterious(0.03) deleterious(0.793) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module FAM58BP 339521 genome.wustl.edu 37 1 200182833 200182833 + Nonsense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001105517.1 +1 provisional p.Q48* 1.000 236 0% 328 18.6% 0 - - - - HMMSmart_CYCLIN,superfamily_Cyclin_like GPR37L1 9283 genome.wustl.edu 37 1 202097123 202097123 + Silent SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004767.3 +1 validated p.P295 0.596 90 0% 107 19.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MTR 4548 genome.wustl.edu 37 1 237057765 237057765 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000254.2 +1 reviewed p.F1105L 1.000 172 0% 212 19.8% 1 0% benign(0.016) tolerated(0.67) neutral(0.003) HMMPfam_Met_synt_B12,superfamily_Methionine synthase activation domain-like OR2C3 81472 genome.wustl.edu 37 1 247694861 247694861 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_198074.4 -1 validated p.A318V 0.000 70 0% 94 16% 0 - benign(0.016) tolerated(0.09) neutral(0.297) NULL ABCG8 64241 genome.wustl.edu 37 2 44100948 44100948 + Nonsense_Mutation SNP C C T rs137852991 TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_022437.2 +1 reviewed p.R412* 1.000 181 0% 178 23% 0 - - - - HMMPfam_ABC2_membrane CCDC85A 114800 genome.wustl.edu 37 2 56420001 56420001 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001080433.1 +1 provisional p.P222 0.003 17 0% 24 33.3% 1 0% - - - HMMPfam_DUF2216 USP39 10713 genome.wustl.edu 37 2 85848614 85848614 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000455732 +1 known p.C113Y 0.999 372 0% 398 13.1% 4 0% - - - NULL SFTPB 6439 genome.wustl.edu 37 2 85890495 85890495 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000542.3 -1 reviewed p.V326I 0.013 51 0% 77 16.9% 1 0% benign(0.123) tolerated(0.06) neutral(0.333) HMMSmart_SapB,superfamily_Saposin_like TMEM131 23505 genome.wustl.edu 37 2 98373635 98373635 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015348.1 -1 validated p.R1860Q 1.000 410 0% 545 22.2% 23 39.1% benign(0.003) deleterious(0.04) neutral(0.349) NULL INPP4A 3631 genome.wustl.edu 37 2 99193553 99193553 + Frame_Shift_Del DEL C C - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001134224.1 +1 reviewed p.H916fs 0.964 - - - - - - - - - NULL INPP4A 3631 genome.wustl.edu 37 2 99203950 99203950 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001134224.1 +1 reviewed p.R938Q 1.000 175 0% 229 11.8% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO7B 4648 genome.wustl.edu 37 2 128385960 128385960 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001080527.1 +1 provisional p.G1466R 0.071 20 0% 49 18.4% 3 0% benign(0.034) tolerated(0.53) neutral(0.009) NULL RND3 390 genome.wustl.edu 37 2 151343806 151343806 + Silent SNP G G C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005168.3 -1 validated p.V42 0.999 123 0% 199 19.1% 9 11.1% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PKP4 8502 genome.wustl.edu 37 2 159526404 159526404 + Missense_Mutation SNP C C G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003628.3 +1 reviewed p.N967K 1.000 57 0% 49 20.4% 27 51.8% benign(0.061) tolerated(0.18) neutral(0.060) HMMSmart_SM00185,superfamily_ARM repeat MYO1B 4430 genome.wustl.edu 37 2 192265524 192265524 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001130158.1 +1 validated p.A811V 1.000 246 0% 358 13.1% 2 0% probably_damaging(0.98) tolerated(0.28) neutral(0.456) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases TYW5 129450 genome.wustl.edu 37 2 200797965 200797965 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001039693.2 -1 validated p.Y258C 1.000 297 0% 111 18% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,superfamily_Clavaminate synthase-like FN1 2335 genome.wustl.edu 37 2 216236721 216236722 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_212482.1 -1 reviewed p.Q2209fs 1.000:0.985 - - - - - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III COL6A3 1293 genome.wustl.edu 37 2 238274523 238274523 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004369.3 -1 reviewed p.R1886C 0.999 38 0% 56 14.3% 9 0% unknown(0) - - HMMSmart_SM00327,superfamily_vWA-like ILKAP 80895 genome.wustl.edu 37 2 239103464 239103464 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_030768.2 -1 reviewed p.A35T 1.000 164 0% 163 19.6% 11 18.1% benign(0) tolerated(0.49) neutral(0.011) NULL ANKMY1 51281 genome.wustl.edu 37 2 241463372 241463372 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_016552.2 -1 validated p.A499T 0.000 44 0% 66 12.1% 5 40% benign(0.126) deleterious(0) neutral(0.455) superfamily_Ankyrin repeat SETD5 55209 genome.wustl.edu 37 3 9485042 9485042 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000399686 +1 known p.V44I 0.996 151 0% 148 22.3% 7 28.5% - - - HMMPfam_SET,superfamily_SET domain KCNH8 131096 genome.wustl.edu 37 3 19554677 19554677 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_144633.2 +1 reviewed p.S765 0.998 143 0% 49 14.3% 0 - - - - NULL ZNF385D 79750 genome.wustl.edu 37 3 21706422 21706422 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_024697.2 -1 validated p.L41I 1.000 185 0% 67 16.4% 1 0% probably_damaging(0.985) deleterious(0.03) deleterious(0.796) NULL HYAL2 8692 genome.wustl.edu 37 3 50357533 50357533 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003773.4 -1 reviewed p.A130T 1.000 60 0% 97 25.8% 32 6.2% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases PBRM1 55193 genome.wustl.edu 37 3 52668640 52668640 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018165.4 -1 validated p.P395S 1.000 532 0% 304 11.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 DCBLD2 131566 genome.wustl.edu 37 3 98518416 98518416 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_080927.3 -1 validated p.P710T 0.005 227 0% 111 9.9% 3 0% benign(0.418) deleterious(0.03) deleterious(0.500) NULL ADCY5 111 genome.wustl.edu 37 3 123036923 123036923 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_183357.1 -1 validated p.A766 0.004 161 0% 209 18.2% 1 0% - - - NULL HEG1 57493 genome.wustl.edu 37 3 124732133 124732133 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020733.1 -1 validated p.T764A 0.000 410 0% 485 17.3% 1 0% benign(0.01) tolerated(0.14) neutral(0.250) NULL ZNF148 7707 genome.wustl.edu 37 3 124996618 124996618 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_021964.2 -1 validated p.R207C 1.000 146 0% 83 26.5% 2 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 COL6A6 131873 genome.wustl.edu 37 3 130293060 130293060 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001102608.1 +1 provisional p.G1080S 1.000 110 0% 75 25.3% 0 - probably_damaging(0.954) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like BFSP2 8419 genome.wustl.edu 37 3 133191302 133191302 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003571.2 +1 reviewed p.A379 0.000 28 0% 44 22.7% 0 - - - - HMMPfam_Filament ESYT3 83850 genome.wustl.edu 37 3 138191208 138191208 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_031913.3 +1 validated p.L582M 0.690 59 0% 65 15.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IGSF10 285313 genome.wustl.edu 37 3 151171413 151171413 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_178822.4 -1 validated p.V158 0.998 149 0% 111 20.7% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like DHX36 170506 genome.wustl.edu 37 3 154021159 154021159 + Silent SNP C C G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020865.2 -1 validated p.P392 0.878 243 0% 81 28.4% 2 0% - - - HMMSmart_DEXDc,superfamily_SSF52540 VWA5B2 90113 genome.wustl.edu 37 3 183957283 183957283 + Silent SNP C C G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_138345.1 +1 provisional p.G768 0.000 41 0% 78 12.8% 0 - - - - NULL SORCS2 57537 genome.wustl.edu 37 4 7533275 7533275 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000507866 +1 known p.V156I 0.010 101 0% 171 19.9% 1 0% - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase LIMCH1 22998 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014988.2 +1 validated p.E425fs 0.997:1.000 - - - - - - - - - NULL GABRB1 2560 genome.wustl.edu 37 4 47427824 47427824 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000812.3 +1 reviewed p.R405H 1.000 62 0% 46 13% 0 - probably_damaging(0.975) tolerated(0.07) deleterious(0.736) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM AGPAT9 84803 genome.wustl.edu 37 4 84502844 84502844 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_032717.3 +1 validated p.T113I 1.000 280 0% 223 24.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HERC3 8916 genome.wustl.edu 37 4 89575229 89575229 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014606.1 +1 provisional p.T241M 0.951 202 0% 100 19% 1 0% possibly_damaging(0.868) deleterious(0) deleterious(0.782) HMMPfam_RCC1,superfamily_RCC1/BLIP-II SLC9B2 133308 genome.wustl.edu 37 4 103947719 103947719 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000503103 -1 known p.S372G 1.000 210 0% 79 20.3% 2 50% possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) NULL EDNRA 1909 genome.wustl.edu 37 4 148453771 148453771 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001957.3 +1 reviewed p.A221V 1.000 236 0% 264 13.3% 7 0% benign(0.333) deleterious(0.04) neutral(0.453) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FBXW7 55294 genome.wustl.edu 37 4 153249510 153249510 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_033632.2 -1 reviewed p.G423V 1.000 204 0% 42 16.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DCHS2 54798 genome.wustl.edu 37 4 155410976 155410976 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001142552.1 -1 validated p.A511V 1.000 47 0% 85 21.2% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187524630 187524630 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005245.3 -1 reviewed p.Q3684* 1.000 139 0% 165 13.9% 7 0% - - - superfamily_Concanavalin A-like lectins/glucanases FAT1 2195 genome.wustl.edu 37 4 187534400 187534400 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005245.3 -1 reviewed p.A3109V 0.996 172 0% 218 11.9% 0 - possibly_damaging(0.779) deleterious(0.01) deleterious(0.697) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like CCDC127 133957 genome.wustl.edu 37 5 205948 205948 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_145265.2 -1 provisional p.R83C 0.996 170 0.6% 290 22.4% 13 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FASTKD3 79072 genome.wustl.edu 37 5 7861280 7861280 + Silent SNP G G A rs138245860 by1000genomes TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_024091.2 -1 validated p.L622 0.981 170 0% 153 18.3% 9 11.1% - - - HMMPfam_RAP TRIO 7204 genome.wustl.edu 37 5 14462947 14462947 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_007118.2 +1 validated p.G1860 0.353 52 0% 68 14.7% 2 0% - - - NULL SLC45A2 51151 genome.wustl.edu 37 5 33951772 33951772 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_016180.3 -1 reviewed p.R348H 0.465 118 0% 70 18.6% 0 - benign(0.005) tolerated(0.6) neutral(0.004) superfamily_MFS general substrate transporter NIPBL 25836 genome.wustl.edu 37 5 37063925 37063927 + In_Frame_Del DEL GAA GAA - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_133433.3 +1 reviewed p.E2635in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL DHX29 54505 genome.wustl.edu 37 5 54572230 54572230 + Missense_Mutation SNP A A T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_019030.2 -1 validated p.F764Y 1.000 163 0% 69 15.9% 1 0% benign(0) tolerated(0.59) neutral(0.004) HMMSmart_DEXDc,superfamily_SSF52540 PIK3R1 5295 genome.wustl.edu 37 5 67590478 67590478 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_181523.1 +1 reviewed p.R514C 1.000 153 0% 115 15.7% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000245358 0 genome.wustl.edu 37 5 114513328 114513328 + RNA SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000502182 +1 known NULL 0.000 49 0% 67 26.9% 0 - - - - - FNIP1 96459 genome.wustl.edu 37 5 131013543 131013543 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_133372.2 -1 validated p.A458T 1.000 160 0% 105 17.1% 2 50% possibly_damaging(0.915) tolerated(0.1) deleterious(0.653) NULL TGFBI 7045 genome.wustl.edu 37 5 135379745 135379746 + Splice_Site DEL AG AG - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000358.2 +1 reviewed e3-1 1.000:1.000 - - - - - - - - - - PCDHB6 56130 genome.wustl.edu 37 5 140531053 140531053 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018939.2 +1 reviewed p.G405 0.000 242 0% 360 16.7% 5 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140562748 140562748 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020957.1 +1 reviewed p.E205G 0.353 106 0% 159 20.8% 1 0% benign(0.141) deleterious(0.01) neutral(0.418) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140590068 140590068 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018932.3 +1 reviewed p.R530H 0.000 76 0% 114 12.3% 0 - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA3 56112 genome.wustl.edu 37 5 140723685 140723685 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018916.3 +1 reviewed p.G29S 0.990 43 0% 76 23.7% 0 - benign(0.019) tolerated(0.11) neutral(0.273) HMMSmart_SM00112,HMMPfam_Cadherin_2 PCDHGB2 56103 genome.wustl.edu 37 5 140739984 140739984 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018923.2 +1 reviewed p.Q94H 1.000 67 0% 84 14.3% 0 - benign(0.027) deleterious(0) neutral(0.446) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140772869 140772869 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_032088.1 +1 reviewed p.G163 0.008 53 0% 120 15.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ARSI 340075 genome.wustl.edu 37 5 149677385 149677385 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001012301.2 -1 validated p.L368 0.887 15 0% 23 34.8% 0 - - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like FAT2 2196 genome.wustl.edu 37 5 150905454 150905454 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001447.2 -1 reviewed p.P3461T 1.000 58 0% 103 13.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like GEMIN5 25929 genome.wustl.edu 37 5 154291388 154291388 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015465.3 -1 validated p.A689V 0.002 88 0% 105 16.2% 2 50% benign(0) tolerated(0.7) neutral(0.002) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WWC1 23286 genome.wustl.edu 37 5 167812373 167812373 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015238.2 +1 reviewed p.Q129 1.000 98 0% 89 12.4% 1 100% - - - NULL FAM50B 26240 genome.wustl.edu 37 6 3850441 3850441 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_012135.1 +1 provisional p.D132 0.000 13 0% 35 25.7% 3 0% - - - HMMPfam_XAP5 HIVEP1 3096 genome.wustl.edu 37 6 12163908 12163908 + Silent SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_002114.2 +1 validated p.V2457 0.235 117 0% 90 11.1% 7 14.2% - - - NULL COX6A1P2 285849 genome.wustl.edu 37 6 37012685 37012685 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000423336 +1 known p.R17H 0.022 59 0% 73 12.3% 5 0% benign(0.139) tolerated(0.08) neutral(0.312) NULL AARS2 57505 genome.wustl.edu 37 6 44271961 44271961 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020745.2 -1 validated p.S655Y 1.000 73 0% 106 16% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thr/Ala-tRNA-synth_IIc_edit ENPP5 59084 genome.wustl.edu 37 6 46135395 46135395 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_021572.4 -1 validated p.P202L 0.991 113 0% 99 21.2% 0 - benign(0.011) tolerated(0.1) neutral(0.287) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like MRAP2 112609 genome.wustl.edu 37 6 84798856 84798856 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_138409.2 +1 validated p.S92P 1.000 143 0% 110 23.6% 5 80% benign(0) deleterious(0.05) neutral(0.345) NULL MDN1 23195 genome.wustl.edu 37 6 90385231 90385231 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014611.1 -1 provisional p.R4238Q 0.189 66 0% 95 20% 0 - probably_damaging(0.974) tolerated(0.42) neutral(0.430) NULL MMS22L 253714 genome.wustl.edu 37 6 97729125 97729125 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_198468.2 -1 predicted p.F93S 1.000 268 0% 310 23.2% 1 0% possibly_damaging(0.638) deleterious(0) deleterious(0.668) NULL AKAP12 9590 genome.wustl.edu 37 6 151626887 151626887 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005100.3 +1 reviewed p.L56 0.183 83 0% 77 13% 2 0% - - - NULL MAD1L1 8379 genome.wustl.edu 37 7 2020125 2020125 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001013836.1 -1 reviewed p.S490G 0.491 19 0% 64 20.3% 20 45% possibly_damaging(0.91) deleterious(0.03) deleterious(0.727) HMMPfam_MAD TNRC18 84629 genome.wustl.edu 37 7 5359978 5359978 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001080495.2 -1 provisional p.R2239H 1.000 92 0% 145 18.6% 15 6.6% unknown(0) - - NULL ETV1 2115 genome.wustl.edu 37 7 13949277 13949277 + Missense_Mutation SNP A A T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004956.4 -1 validated p.V307D 1.000 130 0% 70 17.1% 1 0% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_ETS_PEA3_N SNX13 23161 genome.wustl.edu 37 7 17915346 17915349 + Frame_Shift_Del DEL GTAA GTAA - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015132.4 -1 reviewed p.L169fs 0.976:0.151:0.998:1.000 - - - - - - - - - HMMPfam_PXA,HMMSmart_SM00313 GHRHR 2692 genome.wustl.edu 37 7 31013716 31013716 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000823.3 +1 reviewed p.S238 0.000 64 0% 107 15.9% 0 - - - - HMMPfam_7tm_2,superfamily_SSF81321 POU6F2 11281 genome.wustl.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_007252.3 +1 reviewed p.Q190in_frame_del 0.172:0.153:0.157 - - - - - - - - - NULL POM121 9883 genome.wustl.edu 37 7 72400577 72400577 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_172020.1 +1 reviewed p.Y136 0.000 252 0% 264 20.1% 3 0% - - - NULL CNTNAP2 26047 genome.wustl.edu 37 7 147844632 147844632 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014141.5 +1 reviewed p.E868D 1.000 136 0% 140 20% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 KRBA1 84626 genome.wustl.edu 37 7 149423043 149423043 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000255992 +1 known p.P456S 0.003 51 0% 90 18.9% 7 14.2% unknown(0) tolerated(0.08) - NULL MLL3 58508 genome.wustl.edu 37 7 151851512 151851512 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000360104 -1 known p.*1554R 0.042 119 0% 80 15% 4 75% - - - NULL SLC35G5 83650 genome.wustl.edu 37 8 11189592 11189592 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_054028.1 +1 reviewed p.R326Q 0.789 174 0% 262 14.9% 0 - benign(0) tolerated(0.34) neutral(0.023) superfamily_SSF103481 SULF1 23213 genome.wustl.edu 37 8 70536204 70536204 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001128204.1 +1 validated p.R541Q 1.000 112 0% 108 25% 17 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Alkaline_phosphatase_core NCOA2 10499 genome.wustl.edu 37 8 71060571 71060571 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006540.2 -1 validated p.A848T 1.000 250 0% 287 13.9% 4 25% benign(0.013) tolerated(0.51) neutral(0.009) NULL LY96 23643 genome.wustl.edu 37 8 74922301 74922301 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015364.3 +1 validated p.R90C 0.786 243 0% 203 10.3% 12 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_E1_DerP2_DerF2,HMMSmart_SM00737 CNGB3 54714 genome.wustl.edu 37 8 87680362 87680362 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_019098.4 -1 reviewed p.S176 0.000 276 0% 152 16.4% 0 - - - - NULL TMEM67 91147 genome.wustl.edu 37 8 94767175 94767175 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_153704.5 +1 reviewed p.M11I 1.000 69 0% 87 21.8% 0 - possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL CDH17 1015 genome.wustl.edu 37 8 95142931 95142931 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001144663.1 -1 reviewed p.R774Q 0.825 166 0% 63 15.9% 0 - benign(0.011) tolerated(0.58) neutral(0.005) superfamily_Cadherin-like TRPS1 7227 genome.wustl.edu 37 8 116631584 116631584 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014112.2 -1 reviewed p.N247 0.886 180 0% 94 20.2% 2 50% - - - HMMSmart_ZnF_C2H2 UTP23 84294 genome.wustl.edu 37 8 117783830 117783830 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_032334.2 +1 validated p.V167I 1.000 100 0% 94 21.3% 4 0% benign(0.118) tolerated(0.19) neutral(0.059) NULL KLHL38 340359 genome.wustl.edu 37 8 124664965 124664965 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001081675.2 -1 validated p.R68W 1.000 77 0% 123 22.8% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB COL22A1 169044 genome.wustl.edu 37 8 139895356 139895356 + Missense_Mutation SNP A A T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_152888.1 -1 validated p.S20R 0.002 18 0% 12 50% 0 - unknown(0) deleterious(0) - NULL EIF2C2 27161 genome.wustl.edu 37 8 141542164 141542164 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_012154.3 -1 reviewed p.C846Y 1.000 168 0.6% 264 14.8% 12 16.6% - - - NULL FLJ43860 389690 genome.wustl.edu 37 8 142445249 142445249 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_207414.2 -1 validated p.R1219H 1.000 29 0% 38 28.9% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_ARM repeat ANKRD18B 441459 genome.wustl.edu 37 9 33555748 33555748 + Missense_Mutation SNP A A T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 XM_001718334.2 +1 model p.I820L 0.221 181 0% 49 22.4% 0 - benign(0.012) tolerated(0.23) neutral(0.042) NULL FBXO10 26267 genome.wustl.edu 37 9 37525146 37525146 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_012166.2 -1 validated p.R577H 1.000 76 0% 145 24.1% 0 - benign(0) tolerated(0.22) neutral(0.042) HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like TLE4 7091 genome.wustl.edu 37 9 82323614 82323614 + Silent SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000496114 +1 known p.L183I 1.000 47 0% 72 12.5% 1 0% - - - NULL SVEP1 79987 genome.wustl.edu 37 9 113139637 113139637 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_153366.3 -1 validated p.R3473Q 1.000 89 0% 45 33.3% 29 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin FKBP15 23307 genome.wustl.edu 37 9 115964905 115964905 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015258.1 -1 validated p.R135Q 1.000 113 0% 96 12.5% 4 0% benign(0.09) tolerated(0.71) neutral(0.008) superfamily_FKBP-like PAPPA 5069 genome.wustl.edu 37 9 119033682 119033682 + Silent SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_002581.3 +1 reviewed p.S980 1.000 233 0% 287 13.2% 0 - - - - superfamily_SSF55486 MEGF9 1955 genome.wustl.edu 37 9 123421695 123421695 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001080497.1 -1 provisional p.C291R 0.990 76 0% 47 21.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin TOR2A 27433 genome.wustl.edu 37 9 130495615 130495615 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_130459.2 -1 validated p.E214D 0.003 35 0% 56 23.2% 3 33.3% benign(0.068) deleterious(0) neutral(0.449) NULL ODF2 4957 genome.wustl.edu 37 9 131262511 131262511 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_002540.3 +1 reviewed p.R799C 1.000 162 0% 221 16.7% 26 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NUP214 8021 genome.wustl.edu 37 9 134038531 134038531 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005085.2 +1 reviewed p.S898 0.000 145 0.7% 161 16.8% 6 16.6% - - - NULL NEBL 10529 genome.wustl.edu 37 10 21158716 21158716 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006393.2 -1 reviewed p.R179* 1.000 233 0% 85 14.1% 0 - - - - HMMSmart_SM00227 BMI1 648 genome.wustl.edu 37 10 22618256 22618256 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005180.6 +1 validated p.D256N 1.000 223 0% 279 21.9% 16 12.5% possibly_damaging(0.944) deleterious(0.02) deleterious(0.772) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874387 24874387 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020824.3 -1 validated p.V1611M 0.884 183 0% 89 27% 8 50% benign(0.024) deleterious(0) neutral(0.446) NULL MAPK8 5599 genome.wustl.edu 37 10 49628313 49628313 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_139047.1 +1 reviewed p.R189H 1.000 198 0% 65 15.4% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WDFY4 57705 genome.wustl.edu 37 10 50028299 50028299 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000312002 +1 known p.P933S 0.000 55 0% 97 18.6% 1 100% - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55568664 55568664 + Missense_Mutation SNP C C G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001142769.1 -1 reviewed p.D1721H 0.000 473 0% 262 19.8% 0 - unknown(0) deleterious(0) - NULL PBLD 64081 genome.wustl.edu 37 10 70043987 70043987 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_022129.3 -1 validated p.V272I 0.981 205 0% 299 11% 2 0% benign(0.429) tolerated(0.25) neutral(0.177) HMMPfam_PhzC-PhzF,superfamily_SSF54506 CDH23 64072 genome.wustl.edu 37 10 73563090 73563090 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_022124.5 +1 reviewed p.T2595 0.984 58 0% 103 16.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PTEN 5728 genome.wustl.edu 37 10 89717737 89717739 + In_Frame_Del DEL AGT AGT - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000371953 +1 known p.V255in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 SEC31B 25956 genome.wustl.edu 37 10 102267211 102267211 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015490.3 -1 reviewed p.S251 0.082 107 0% 82 11% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 UROS 7390 genome.wustl.edu 37 10 127477535 127477535 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000375.2 -1 reviewed p.A234T 0.035 18 0% 13 38.5% 37 2.7% benign(0.012) tolerated(0.24) neutral(0.038) HMMPfam_HEM4,superfamily_Uroporphyrinogen III synthase (U3S HemD) BRSK2 9024 genome.wustl.edu 37 11 1477726 1477726 + Missense_Mutation SNP G G C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003957.2 +1 validated p.G606A 1.000 46 0% 70 20% 0 - benign(0.262) tolerated(0.59) neutral(0.032) NULL TPP1 1200 genome.wustl.edu 37 11 6637243 6637243 + Missense_Mutation SNP C C T rs190013230 by1000genomes TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000391.3 -1 reviewed p.A380T 1.000 222 0% 261 20.7% 21 4.7% possibly_damaging(0.479) tolerated(0.57) neutral(0.165) superfamily_Subtilisin-like SBF2 81846 genome.wustl.edu 37 11 10022540 10022540 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_030962.3 -1 reviewed p.Q261R 1.000 123 0% 136 24.3% 0 - benign(0.001) tolerated(0.64) neutral(0.003) HMMPfam_DENN,HMMSmart_SM00799 USP47 55031 genome.wustl.edu 37 11 11969599 11969599 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_017944.3 +1 validated p.A999T 1.000 265 0% 81 13.6% 14 14.2% possibly_damaging(0.78) tolerated(0.64) neutral(0.294) NULL PTH 5741 genome.wustl.edu 37 11 13514329 13514329 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000315.2 -1 reviewed p.G25V 0.996 170 0% 113 18.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Parathyroid IGSF22 283284 genome.wustl.edu 37 11 18733914 18733914 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000513874 -1 known p.Q705* 0.960 107 0% 152 10.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LOC100289009 100289009 genome.wustl.edu 37 11 32118738 32118738 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 XM_002343075.1 -1 model p.S89G 0.007 157 0% 155 25.8% 34 35.2% - - - NULL CAT 847 genome.wustl.edu 37 11 34477668 34477668 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001752.3 +1 reviewed p.Y274 1.000 166 0% 142 22.5% 24 25% - - - superfamily_Catalase_N,HMMPfam_Catalase CHRM4 1132 genome.wustl.edu 37 11 46406976 46406976 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000741.2 -1 reviewed p.A378T 1.000 120 0% 163 11% 0 - possibly_damaging(0.61) tolerated(0.22) neutral(0.254) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FNBP4 23360 genome.wustl.edu 37 11 47739011 47739011 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015308.2 -1 validated p.A1006V 1.000 180 0% 263 15.6% 13 15.3% probably_damaging(0.982) tolerated(0.05) deleterious(0.772) NULL OR5B21 219968 genome.wustl.edu 37 11 58274980 58274980 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001005218.1 -1 provisional p.A200V 0.002 139 0% 43 16.3% 0 - benign(0) tolerated(0.45) neutral(0.012) HMMPfam_7tm_1,superfamily_SSF81321 NXF1 10482 genome.wustl.edu 37 11 62571027 62571027 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006362.4 -1 reviewed p.R78L 0.993 129 0% 171 26.9% 13 30.7% probably_damaging(0.978) deleterious(0.03) deleterious(0.785) NULL DNAJC4 3338 genome.wustl.edu 37 11 64000307 64000307 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005528.3 +1 validated p.A166V 0.320 90 0% 104 19.2% 128 29.6% benign(0.008) tolerated(0.13) neutral(0.253) NULL PLCB3 5331 genome.wustl.edu 37 11 64022785 64022785 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000932.2 +1 reviewed p.A156V 1.000 111 0% 150 14.7% 8 37.5% probably_damaging(0.978) tolerated(0.67) neutral(0.423) NULL SYT12 91683 genome.wustl.edu 37 11 66813260 66813260 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_177963.3 +1 reviewed p.S335N 1.000 80 0% 179 16.2% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PRKRIR 5612 genome.wustl.edu 37 11 76062696 76062696 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004705.2 -1 provisional p.L500I 1.000 67 0% 25 16% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C11orf30 56946 genome.wustl.edu 37 11 76183647 76183647 + Missense_Mutation SNP C C G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020193.3 +1 validated p.P291A 1.000 341 0% 191 20.9% 1 0% unknown(0) deleterious(0.02) - NULL USP28 57646 genome.wustl.edu 37 11 113705058 113705058 + Splice_Site SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020886.2 -1 validated e6-1 1.000 171 0% 129 11.6% 0 - - - - - MLL 4297 genome.wustl.edu 37 11 118359428 118359428 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005933.2 +1 validated p.R1478C 1.000 282 0% 343 18.7% 2 50% probably_damaging(1) - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD SORL1 6653 genome.wustl.edu 37 11 121437742 121437742 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003105.4 +1 reviewed p.S1048N 1.000 149 0% 86 17.4% 3 0% benign(0.116) tolerated(0.22) neutral(0.051) NULL ROBO3 64221 genome.wustl.edu 37 11 124742859 124742859 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_022370.3 +1 reviewed p.L470 1.000 65 0% 101 13.9% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DUSP16 80824 genome.wustl.edu 37 12 12630252 12630252 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_030640.2 -1 reviewed p.R505* 0.501 122 0% 120 22.5% 5 0% - - - NULL PTPRO 5800 genome.wustl.edu 37 12 15677817 15677817 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_030667.1 +1 reviewed p.G654E 1.000 218 0% 86 11.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00060,superfamily_Fibronectin type III PLEKHA5 54477 genome.wustl.edu 37 12 19427702 19427702 + Silent SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_019012.3 +1 validated p.P360 0.000 150 0% 72 23.6% 5 20% - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_033360.2 -1 reviewed p.G12D 1.000 274 0% 295 19.7% 2 50% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RARG 5916 genome.wustl.edu 37 12 53609077 53609077 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000966.4 -1 validated p.A159T 1.000 215 0% 319 17.2% 5 0% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_zf-C4,superfamily_Nuclear receptor ligand-binding domain OR6C70 390327 genome.wustl.edu 37 12 55863530 55863530 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001005499.1 -1 provisional p.M131I 0.000 130 0% 54 11.1% 0 - benign(0) tolerated(0.16) neutral(0.059) HMMPfam_7tm_1,superfamily_SSF81321 ITGA7 3679 genome.wustl.edu 37 12 56090722 56090722 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001144996.1 -1 reviewed p.Q570 1.000 84 0% 119 21.8% 5 20% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains BAZ2A 11176 genome.wustl.edu 37 12 56999107 56999107 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_013449.3 -1 validated p.L835P 1.000 109 0% 117 19.7% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PPFIA2 8499 genome.wustl.edu 37 12 81734915 81734915 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003625.2 -1 reviewed p.P779S 1.000 526 0% 118 14.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GALNT4 8693 genome.wustl.edu 37 12 89917558 89917558 + Missense_Mutation SNP C C G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003774.3 -1 reviewed p.D257H 1.000 125 0% 167 19.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GNPTAB 79158 genome.wustl.edu 37 12 102183790 102183790 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_024312.4 -1 reviewed p.N83 0.988 386 0% 261 19.2% 3 33.3% - - - NULL ANKRD13A 88455 genome.wustl.edu 37 12 110467366 110467366 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_033121.1 +1 validated p.R387Q 1.000 187 0% 209 31.1% 2 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NOS1 4842 genome.wustl.edu 37 12 117662863 117662863 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000620.2 -1 reviewed p.R1262* 1.000 164 0% 240 21.7% 0 - - - - HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain ZCCHC8 55596 genome.wustl.edu 37 12 122964736 122964736 + Splice_Site SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_017612.2 -1 validated e11+1 1.000 337 0% 245 24.5% 1 100% - - - - TMEM132C 92293 genome.wustl.edu 37 12 129189910 129189910 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001136103.2 +1 provisional p.F687 0.976 30 0% 38 13.2% 0 - - - - NULL SFSWAP 6433 genome.wustl.edu 37 12 132237817 132237817 + Missense_Mutation SNP A A C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004592.2 +1 reviewed p.T411P 0.016 138 0.7% 230 15.7% 9 22.2% possibly_damaging(0.563) tolerated(0.23) neutral(0.234) NULL LNX2 222484 genome.wustl.edu 37 13 28143271 28143271 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_153371.3 -1 validated p.G184C 0.985 167 0% 66 10.6% 3 0% possibly_damaging(0.888) deleterious(0.01) deleterious(0.753) NULL PCDH17 27253 genome.wustl.edu 37 13 58208366 58208366 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001040429.2 +1 reviewed p.H562 1.000 19 0% 22 18.2% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MYCBP2 23077 genome.wustl.edu 37 13 77780922 77780922 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015057.4 -1 validated p.A1114V 1.000 136 0% 74 10.8% 1 0% probably_damaging(0.99) tolerated(1) neutral(0.442) NULL SLITRK6 84189 genome.wustl.edu 37 13 86368865 86368865 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_032229.2 -1 validated p.T593 0.056 231 0% 50 12% 0 - - - - NULL SLITRK5 26050 genome.wustl.edu 37 13 88330342 88330342 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015567.1 +1 validated p.Q900R 1.000 63 0% 89 14.6% 0 - possibly_damaging(0.528) tolerated(0.09) deleterious(0.474) NULL FARP1 10160 genome.wustl.edu 37 13 99098961 99098961 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005766.2 +1 reviewed p.S982 0.001 161 0% 255 11.8% 73 16.4% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TPP2 7174 genome.wustl.edu 37 13 103297277 103297277 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003291.2 +1 reviewed p.N771D 1.000 171 1.2% 50 12% 3 33.3% benign(0.025) tolerated(0.19) neutral(0.051) NULL LOC643677 643677 genome.wustl.edu 37 13 103386376 103386376 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 XM_002344085.1 -1 model p.P5405 0.003 135 0% 48 20.8% 0 - - - - NULL MYO16 23026 genome.wustl.edu 37 13 109496821 109496821 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015011.1 +1 validated p.G388S 0.000 132 0% 52 13.5% 0 - benign(0.002) tolerated(0.7) neutral(0.002) superfamily_P-loop containing nucleoside triphosphate hydrolases APEX1 328 genome.wustl.edu 37 14 20925372 20925372 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001641.2 +1 reviewed p.R221H 1.000 171 0% 194 26.8% 219 36.5% possibly_damaging(0.852) deleterious(0) deleterious(0.772) HMMPfam_Exo_endo_phos,superfamily_DNase I-like SLC7A7 9056 genome.wustl.edu 37 14 23243658 23243658 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001126105.1 -1 reviewed p.Y384H 1.000 212 0% 204 19.1% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HAUS4 54930 genome.wustl.edu 37 14 23419597 23419597 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_017815.2 -1 reviewed p.R163Q 0.771 238 0% 256 11.3% 13 0% benign(0.005) tolerated(0.15) neutral(0.241) NULL MYH7 4625 genome.wustl.edu 37 14 23896022 23896022 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000257.2 -1 reviewed p.V670I 1.000 251 0% 416 19.7% 0 - possibly_damaging(0.88) tolerated(0.23) neutral(0.385) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TGM1 7051 genome.wustl.edu 37 14 24731013 24731013 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000359.2 -1 reviewed p.D132 0.566 74 0% 155 23.9% 0 - - - - HMMPfam_Transglut_N,superfamily_Ig_E-set NEK9 91754 genome.wustl.edu 37 14 75563839 75563839 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_033116.4 -1 validated p.L713M 1.000 111 0% 96 26% 4 25% possibly_damaging(0.933) deleterious(0) deleterious(0.824) superfamily_RCC1/BLIP-II NRXN3 9369 genome.wustl.edu 37 14 79434564 79434565 + Frame_Shift_Ins INS - - AA novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004796.4 +1 reviewed p.L635fs 1.000:0.572 - - - - - - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 IGHA2 3494 genome.wustl.edu 37 14 106054597 106054597 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000390539 -1 known p.Q46* 0.000 150 0% 197 13.2% 87 0% - - - HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin ENSG00000206149 0 genome.wustl.edu 37 15 28886371 28886371 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000382946 +1 known p.L406P 1.000 201 0% 255 14.5% 2 0% - - - NULL APBA2 321 genome.wustl.edu 37 15 29346090 29346090 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005503.3 +1 reviewed p.M1I 1.000 27 0% 33 30.3% 6 50% possibly_damaging(0.866) deleterious(0) deleterious(0.780) NULL OIP5 11339 genome.wustl.edu 37 15 41602025 41602025 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_007280.1 -1 provisional p.T206M 0.003 199 0% 177 23.7% 7 28.5% benign(0.001) tolerated(0.27) neutral(0.034) NULL WDR76 79968 genome.wustl.edu 37 15 44120485 44120485 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_024908.3 +1 validated p.T128M 0.000 151 0% 192 21.9% 2 50% possibly_damaging(0.754) deleterious(0.02) deleterious(0.661) NULL MYO5C 55930 genome.wustl.edu 37 15 52548900 52548900 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018728.2 -1 validated p.V444A 1.000 266 0% 292 16.8% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TLE3 7090 genome.wustl.edu 37 15 70347577 70347577 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005078.2 -1 validated p.D466 0.761 54 0% 79 19% 5 40% - - - superfamily_WD40 repeat-like LOC100287646 100287646 genome.wustl.edu 37 15 74315256 74315256 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 XM_002343353.1 -1 model p.A211T 0.003 25 0% 32 18.8% 17 35.2% - - - NULL ANPEP 290 genome.wustl.edu 37 15 90349770 90349770 + Silent SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001150.2 -1 reviewed p.G15 0.121 119 0% 211 21.3% 0 - - - - NULL MSLNL 401827 genome.wustl.edu 37 16 823013 823013 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001025190.1 -1 provisional p.L724 0.004 107 0% 135 20% 0 - - - - HMMPfam_Mesothelin MAPK8IP3 23162 genome.wustl.edu 37 16 1812705 1812707 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015133.3 +1 reviewed p.K569in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PKD1 5310 genome.wustl.edu 37 16 2140508 2140508 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001009944.2 -1 reviewed p.L4074 0.980 24 0% 29 20.7% 24 25% - - - HMMPfam_PKD_channel TBC1D24 57465 genome.wustl.edu 37 16 2546750 2546750 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020705.1 +1 provisional p.V201M 0.758 78 0% 114 11.4% 0 - possibly_damaging(0.845) tolerated(0.07) deleterious(0.643) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC ZNF263 10127 genome.wustl.edu 37 16 3340137 3340137 + Missense_Mutation SNP G G C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005741.4 +1 validated p.R544T 1.000 114 0% 116 21.6% 8 25% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SEPT12 124404 genome.wustl.edu 37 16 4828125 4828125 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_144605.3 -1 validated p.A279 0.182 165 0% 240 10% 0 - - - - HMMPfam_Septin USP31 57478 genome.wustl.edu 37 16 23102000 23102000 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_020718.3 -1 validated p.D454N 1.000 234 0% 152 9.9% 1 0% benign(0.081) tolerated(0.21) neutral(0.050) HMMPfam_UCH,superfamily_Cysteine proteinases IL27 246778 genome.wustl.edu 37 16 28511198 28511200 + In_Frame_Del DEL TCC TCC - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_145659.3 -1 reviewed p.E172in_frame_del 0.049:0.009:0.000 - - - - - - - - - NULL NOD2 64127 genome.wustl.edu 37 16 50745323 50745323 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_022162.1 +1 reviewed p.L501 0.242 17 0% 31 19.4% 0 - - - - NULL C16orf86 388284 genome.wustl.edu 37 16 67702350 67702350 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001012984.2 +1 validated p.G267 0.956 35 0% 89 22.5% 2 0% - - - NULL VAC14 55697 genome.wustl.edu 37 16 70765439 70765439 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018052.3 -1 validated p.S540 0.387 198 0% 305 16.7% 16 18.7% - - - superfamily_ARM-type_fold COX4I1 1327 genome.wustl.edu 37 16 85834875 85834875 + Nonsense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001861.2 +1 reviewed p.R22* 0.083 338 0% 528 19.1% 490 19.7% - - - NULL BANP 54971 genome.wustl.edu 37 16 88071599 88071599 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_079837.2 +1 reviewed p.H392 0.999 142 0% 253 13.8% 4 100% - - - NULL GALNS 2588 genome.wustl.edu 37 16 88902187 88902187 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000512.4 -1 reviewed p.T235M 1.000 94 0% 181 23.8% 13 7.6% probably_damaging(0.987) tolerated(0.1) deleterious(0.723) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PITPNM3 83394 genome.wustl.edu 37 17 6361007 6361007 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_031220.3 -1 reviewed p.T842 0.176 58 0% 84 20.2% 0 - - - - HMMPfam_LNS2,HMMSmart_SM00775,superfamily_HAD-like DLG4 1742 genome.wustl.edu 37 17 7120454 7120455 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001128827.1 -1 reviewed p.C5fs 1.000:1.000 - - - - - - - - - NULL COX10 1352 genome.wustl.edu 37 17 14005478 14005478 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001303.3 +1 reviewed p.P181 0.144 191 0% 69 33.3% 2 0% - - - HMMPfam_UbiA NCOR1 9611 genome.wustl.edu 37 17 15973556 15973556 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006311.2 -1 reviewed p.T1479I 0.101 248 0% 231 17.3% 6 0% benign(0.032) deleterious(0.05) neutral(0.347) NULL MYO15A 51168 genome.wustl.edu 37 17 18035800 18035800 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_016239.3 +1 reviewed p.E1414K 1.000 45 0% 69 18.8% 0 - probably_damaging(0.974) - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NLK 51701 genome.wustl.edu 37 17 26495519 26495519 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_016231.4 +1 validated p.R295C 1.000 224 0% 143 14% 1 100% benign(0.005) tolerated(0.11) neutral(0.272) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000167524 0 genome.wustl.edu 37 17 26940469 26940469 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000301037 -1 known p.Q105* 1.000 127 0% 145 18.6% 0 - - - - superfamily_Protein kinase-like (PK-like) KRT33A 3883 genome.wustl.edu 37 17 39503110 39503110 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004138.2 -1 reviewed p.A288T 1.000 231 0% 355 19.7% 0 - benign(0.31) deleterious(0.04) neutral(0.446) HMMPfam_Filament CNTNAP1 8506 genome.wustl.edu 37 17 40845484 40845484 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003632.2 +1 reviewed p.C974 0.978 92 0% 151 17.9% 2 0% - - - HMMPfam_EGF,superfamily_ConA_like_lec_gl GFAP 2670 genome.wustl.edu 37 17 42987844 42987844 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000376990 -1 known p.R437H 0.000 94 0% 88 19.3% 0 - - - - NULL ARHGAP27 201176 genome.wustl.edu 37 17 43473605 43473605 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_199282.2 -1 validated p.T399I 1.000 52 0% 77 15.6% 4 50% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PDK2 5164 genome.wustl.edu 37 17 48174837 48174837 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_002611.3 +1 provisional p.L57M 1.000 103 0% 196 19.9% 22 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain TOB1 10140 genome.wustl.edu 37 17 48940553 48940556 + Frame_Shift_Del DEL AAAT AAAT - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005749.2 -1 reviewed p.I275fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL EPX 8288 genome.wustl.edu 37 17 56270742 56270742 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000502.4 +1 reviewed p.R61W 0.458 61 0% 106 20.8% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL TBX2 6909 genome.wustl.edu 37 17 59479160 59479160 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_005994.3 +1 validated p.R171C 1.000 42 0% 53 26.4% 9 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors GAA 2548 genome.wustl.edu 37 17 78092530 78092530 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000152.3 +1 reviewed p.V909M 0.991 94 0% 132 22.7% 68 32.3% possibly_damaging(0.817) tolerated(0.11) deleterious(0.581) NULL FSCN2 25794 genome.wustl.edu 37 17 79502118 79502118 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001077182.2 +1 reviewed p.H289 0.587 98 0% 173 24.3% 3 66.6% - - - superfamily_Actin-crosslinking proteins,HMMPfam_Fascin UTS2R 2837 genome.wustl.edu 37 17 80332468 80332468 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_018949.1 +1 provisional p.V90M 1.000 33 0% 46 10.9% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PTPRM 5797 genome.wustl.edu 37 18 8376550 8376550 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001105244.1 +1 reviewed p.C1139 0.882 146 0% 216 11.6% 13 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II GREB1L 80000 genome.wustl.edu 37 18 19098039 19098039 + Silent SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001142966.1 +1 provisional p.C1772 0.959 224 0% 135 18.5% 0 - - - - NULL POLI 11201 genome.wustl.edu 37 18 51813698 51813698 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_007195.2 +1 validated p.R372H 1.000 208 0% 41 34.1% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain NFATC1 4772 genome.wustl.edu 37 18 77170517 77170517 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_172387.1 +1 reviewed p.P68L 0.012 32 0% 51 11.8% 3 0% benign(0.001) tolerated(0.71) neutral(0.002) NULL NFATC1 4772 genome.wustl.edu 37 18 77170557 77170557 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_172387.1 +1 reviewed p.D81 0.989 25 0% 41 14.6% 3 33.3% - - - NULL HCN2 610 genome.wustl.edu 37 19 603686 603686 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001194.3 +1 validated p.L259M 1.000 147 0% 236 13.6% 0 - probably_damaging(0.977) tolerated(0.07) deleterious(0.738) HMMPfam_Ion_trans,superfamily_SSF81324 AZU1 566 genome.wustl.edu 37 19 830715 830715 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001700.3 +1 reviewed p.R123L 0.987 29 0% 49 12.2% 1 100% probably_damaging(0.996) tolerated(0.28) deleterious(0.493) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PRDX2 7001 genome.wustl.edu 37 19 12911687 12911687 + Silent SNP T T G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_181738.1 -1 reviewed p.T100 0.000 126 0% 167 26.3% 0 - - - - NULL NACC1 112939 genome.wustl.edu 37 19 13246888 13246888 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_052876.2 +1 validated p.G289 0.997 218 0% 283 20.8% 7 57.1% - - - NULL LOC100289597 100289597 genome.wustl.edu 37 19 15073008 15073008 + Nonsense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 XM_002343628.1 +1 model p.Q86* 0.989 107 0% 75 18.7% 0 - - - - NULL C19orf12 83636 genome.wustl.edu 37 19 30193874 30193874 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001031726.2 -1 validated p.V68 0.422 104 0% 174 26.4% 1 0% - - - NULL MLL4 9757 genome.wustl.edu 37 19 36229345 36229345 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014727.1 +1 reviewed p.R2679C 0.998 90 0% 152 21.1% 45 31.1% probably_damaging(0.999) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain GGN 199720 genome.wustl.edu 37 19 38876248 38876248 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_152657.3 -1 reviewed p.A552S 0.000 26 0% 24 20.8% 1 100% possibly_damaging(0.61) tolerated(0.86) neutral(0.212) NULL FAM98C 147965 genome.wustl.edu 37 19 38899399 38899399 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_174905.3 +1 validated p.M309I 1.000 96 0% 155 18.1% 19 21% possibly_damaging(0.891) tolerated(0.28) neutral(0.382) HMMPfam_DUF2465 RYR1 6261 genome.wustl.edu 37 19 39002910 39002910 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000540.2 +1 reviewed p.I3087V 1.000 107 0% 141 17.7% 0 - benign(0.014) - - NULL SAMD4B 55095 genome.wustl.edu 37 19 39871713 39871713 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000392067 +1 known p.G644S 0.697 59 0% 146 19.2% 20 35% unknown(0) - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39961144 39961144 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001111020.2 +1 validated p.L553P 1.000 345 0% 534 14.4% 48 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Translation proteins SH3-like domain CYP2A13 1553 genome.wustl.edu 37 19 41597681 41597681 + Silent SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000766.3 +1 reviewed p.P233 0.607 345 0% 451 15.3% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 TRAPPC6A 79090 genome.wustl.edu 37 19 45667269 45667269 + Splice_Site SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_024108.1 -1 provisional e5-2 1.000 100 0% 151 19.2% 0 - - - - - DHX34 9704 genome.wustl.edu 37 19 47880402 47880402 + Missense_Mutation SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014681.5 +1 reviewed p.V882A 1.000 58 0% 77 19.5% 7 14.2% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) HMMPfam_DUF1605 EHD2 30846 genome.wustl.edu 37 19 48244195 48244195 + Nonsense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014601.3 +1 reviewed p.E380* 1.000 50 0% 38 23.7% 30 0% - - - NULL LIG1 3978 genome.wustl.edu 37 19 48638981 48638981 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000234.1 -1 reviewed p.K493 0.867 77 0% 140 13.6% 10 0% - - - NULL BAX 581 genome.wustl.edu 37 19 49464139 49464139 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004324.3 +1 reviewed p.L148 0.999 73 0% 99 12.1% 112 8.9% - - - HMMPfam_Bcl-2,HMMSmart_BCL,superfamily_SSF56854 RUVBL2 10856 genome.wustl.edu 37 19 49513262 49513262 + Missense_Mutation SNP A A G novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006666.1 +1 reviewed p.K201R 1.000 41 0% 71 15.5% 107 38.3% benign(0.012) tolerated(0.73) neutral(0.002) HMMSmart_AAA,HMMPfam_TIP49,superfamily_SSF52540 AP2A1 160 genome.wustl.edu 37 19 50296347 50296347 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_014203.2 +1 reviewed p.R235W 1.000 181 0% 272 17.3% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat SIGLEC11 114132 genome.wustl.edu 37 19 50463845 50463846 + Frame_Shift_Del DEL TA TA - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_052884.2 -1 validated p.H141fs 0.001:0.000 - - - - - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF350 59348 genome.wustl.edu 37 19 52468148 52468148 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_021632.3 -1 validated p.V520M 0.035 129 0% 68 13.2% 9 66.6% possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL MZF1 7593 genome.wustl.edu 37 19 59073792 59073794 + In_Frame_Del DEL TCC TCC - novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003422.2 -1 validated p.R617in_frame_del 0.981:0.981:0.993 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NOP56 10528 genome.wustl.edu 37 20 2635158 2635158 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006392.2 +1 reviewed p.A103T 1.000 159 0% 268 14.9% 23 17.3% benign(0.057) tolerated(0.14) neutral(0.253) NULL C20orf112 140688 genome.wustl.edu 37 20 31062428 31062428 + Nonsense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_080616.3 -1 validated p.Q29* 0.997 38 0% 74 14.9% 3 0% - - - NULL CSE1L 1434 genome.wustl.edu 37 20 47711485 47711485 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001316.2 +1 reviewed p.T937 0.691 146 0.7% 66 13.6% 122 35.2% - - - HMMPfam_CAS_CSE1 CABLES2 81928 genome.wustl.edu 37 20 60968647 60968647 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000453274 -1 known p.R37Q 0.836 148 0% 184 12% 4 25% - - - NULL RWDD2B 10069 genome.wustl.edu 37 21 30380243 30380243 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_016940.2 -1 validated p.T188 0.004 233 0% 288 18.8% 7 28.5% - - - HMMPfam_DUF1115 TTC3 7267 genome.wustl.edu 37 21 38507790 38507790 + Silent SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001001894.1 +1 validated p.N518 0.044 87 0% 42 16.7% 5 0% - - - superfamily_Spectrin,superfamily_SSF48452 DSCAM 1826 genome.wustl.edu 37 21 41719829 41719829 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001389.3 -1 validated p.S326R 1.000 186 0.5% 108 11.1% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin PKNOX1 5316 genome.wustl.edu 37 21 44437109 44437109 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004571.3 +1 validated p.T205M 0.951 69 0% 103 15.5% 6 0% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL ICOSLG 23308 genome.wustl.edu 37 21 45649973 45649973 + Splice_Site SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_015259.4 -1 validated e6-1 0.532 60 0% 102 25.5% 0 - - - - - ITGB2 3689 genome.wustl.edu 37 21 46306658 46306658 + Missense_Mutation SNP C C A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000211.3 -1 reviewed p.W747L 1.000 46 0% 85 20% 70 1.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_b_cyt COL18A1 80781 genome.wustl.edu 37 21 46915322 46915322 + Silent SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_130444.2 +1 reviewed p.D1243 0.000 163 0% 230 14.8% 215 34.4% - - - HMMPfam_Collagen,superfamily_C-type lectin-like SLC7A4 6545 genome.wustl.edu 37 22 21385504 21385504 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004173.2 -1 validated p.A200T 0.840 63 0% 82 13.4% 0 - benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_AA_permease SGSM1 129049 genome.wustl.edu 37 22 25297908 25297908 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001039948.2 +1 validated p.R962C 1.000 49 0% 71 15.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p MYO18B 84700 genome.wustl.edu 37 22 26272222 26272222 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_032608.5 +1 reviewed p.P1383S 1.000 60 0% 50 16% 0 - benign(0.006) tolerated(0.26) neutral(0.034) superfamily_P-loop containing nucleoside triphosphate hydrolases GALR3 8484 genome.wustl.edu 37 22 38219615 38219615 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_003614.1 +1 reviewed p.D68N 1.000 88 0% 119 26.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CELSR1 9620 genome.wustl.edu 37 22 46860106 46860106 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000454637 -1 known p.S602L 0.969 40 0% 81 14.8% 1 0% - - - NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2269 2269 + RNA SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000387347 +1 known NULL NULL 88 0% 35 62.9% 8048 84.3% - - - - ENSG00000210082 0 genome.wustl.edu 37 MT 3153 3153 + RNA SNP T T C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 ENST00000387347 +1 known NULL NULL 73 0.000 8 0.875 8048 85.2% - - - - SYAP1 94056 genome.wustl.edu 37 X 16759881 16759881 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_032796.3 +1 validated p.T135I 1.000 290 0% 247 17.4% 44 43.1% benign(0.009) tolerated(0.09) neutral(0.297) NULL FAM47B 170062 genome.wustl.edu 37 X 34961678 34961678 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_152631.2 +1 validated p.A244T 0.001 70 0% 127 14.2% 0 - benign(0.024) tolerated(0.57) neutral(0.007) NULL SMC1A 8243 genome.wustl.edu 37 X 53442059 53442059 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006306.2 -1 reviewed p.R57W 1.000 139 0% 181 22.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_SSF52540 HSD17B10 3028 genome.wustl.edu 37 X 53461282 53461282 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004493.2 -1 reviewed p.A4V 0.001 59 0% 74 17.6% 27 0% benign(0.109) tolerated(0.26) neutral(0.043) NULL KIF4A 24137 genome.wustl.edu 37 X 69510346 69510346 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_012310.4 +1 reviewed p.A13V 1.000 198 0% 249 11.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC7A3 84889 genome.wustl.edu 37 X 70149604 70149604 + Missense_Mutation SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001048164.2 -1 reviewed p.L82M 1.000 134 0% 156 16% 3 0% possibly_damaging(0.947) deleterious(0.04) deleterious(0.740) HMMPfam_AA_permease SLC16A2 6567 genome.wustl.edu 37 X 73744295 73744295 + Missense_Mutation SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_006517.3 +1 reviewed p.R300H 0.985 239 0% 223 22% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter AGTR2 186 genome.wustl.edu 37 X 115304309 115304309 + Missense_Mutation SNP C C T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_000686.4 +1 reviewed p.A259V 1.000 236 0% 52 26.9% 1 0% benign(0.038) tolerated(1) neutral(0.002) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CDR1 1038 genome.wustl.edu 37 X 139866496 139866496 + Silent SNP G G A novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_004065.2 -1 reviewed p.D12 0.035 332 0.3% 153 18.3% 1 0% - - - NULL LDOC1 23641 genome.wustl.edu 37 X 140271051 140271051 + Silent SNP G G T novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_012317.2 -1 reviewed p.P52 1.000 50 0% 82 19.5% 18 0% - - - NULL ZNF275 10838 genome.wustl.edu 37 X 152613072 152613072 + Missense_Mutation SNP A A C novel TCGA-D1-A101-01A-12D-A10M-09 TCGA-D1-A101-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e76d132c-da4a-4ec6-b655-f2117d91fb52 fb0ece2a-bebc-427d-9b10-c5a54a4594a3 NM_001080485.2 +1 validated p.K310T 1.000 28 0% 46 26.1% 2 0% probably_damaging(0.989) tolerated(0.14) deleterious(0.689) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers