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 LRRC47 57470 genome.wustl.edu 37 1 3703493 3703493 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020710.2 -1 validated p.R333W 1.000 24 0% 66 13.6% 45 2.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_B3_4 UBR4 23352 genome.wustl.edu 37 1 19433445 19433445 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020765.2 -1 validated p.A4041T 0.999 115 0% 76 15.8% 7 0% benign(0.003) tolerated(0.56) neutral(0.006) superfamily_ARM repeat NBPF3 84224 genome.wustl.edu 37 1 21804793 21804793 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032264.2 +1 validated p.D383 0.002 347 0% 228 20.2% 2 0% - - - HMMPfam_DUF1220 RAP1GAP 5909 genome.wustl.edu 37 1 21952879 21952879 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001145658.1 -1 validated p.G31E 1.000 71 0% 237 23.6% 5 20% possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL ZBTB40 9923 genome.wustl.edu 37 1 22835706 22835706 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001083621.1 +1 validated p.L605M 0.825 363 0% 346 20.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARID1A 8289 genome.wustl.edu 37 1 27087503 27087503 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006015.4 +1 reviewed p.R693* 1.000 264 0% 207 44.4% 10 40% - - - NULL GPATCH3 63906 genome.wustl.edu 37 1 27220804 27220804 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022078.2 -1 validated p.I325T 0.995 132 0% 255 38% 9 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL WDTC1 23038 genome.wustl.edu 37 1 27627865 27627865 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015023.3 +1 validated p.G460W 1.000 75 0% 88 13.6% 23 17.3% possibly_damaging(0.729) deleterious(0.02) deleterious(0.649) superfamily_WD40 repeat-like,HMMSmart_SM00028,superfamily_TPR-like CSMD2 114784 genome.wustl.edu 37 1 33985441 33985441 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_052896.3 -1 validated p.A3425 0.900 43 0% 52 15.4% 1 0% - - - NULL CSMD2 114784 genome.wustl.edu 37 1 34192260 34192260 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_052896.3 -1 validated p.P759S 0.996 79 0% 48 12.5% 0 - benign(0.008) tolerated(0.8) neutral(0.001) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain KIAA0494 9813 genome.wustl.edu 37 1 47144187 47144187 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014774.2 -1 validated p.S478 0.116 254 0% 214 41.1% 23 30.4% - - - NULL ODF2L 57489 genome.wustl.edu 37 1 86820361 86820361 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020729.2 -1 validated p.M511T 1.000 970 0% 475 17.5% 18 16.6% probably_damaging(0.992) tolerated(0.28) deleterious(0.479) NULL NRAS 4893 genome.wustl.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 byCluster TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002524.3 -1 reviewed p.Q61K 1.000 389 0% 228 19.3% 27 22.2% benign(0.006) deleterious(0.01) neutral(0.406) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases WARS2 10352 genome.wustl.edu 37 1 119588247 119588247 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015836.3 -1 reviewed p.C129 1.000 628 0% 399 12.8% 13 7.6% - - - HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase PDE4DIP 9659 genome.wustl.edu 37 1 144921969 144921969 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014644.4 -1 validated p.E354K 1.000 411 0% 542 18.5% 16 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL VPS45 11311 genome.wustl.edu 37 1 150049849 150049849 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_007259.3 +1 reviewed p.L227 1.000 428 0% 574 11.8% 35 11.4% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SNX27 81609 genome.wustl.edu 37 1 151633285 151633285 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_030918.5 +1 reviewed p.R250* 1.000 1027 0% 1303 30% 4 50% - - - HMMPfam_PX,HMMSmart_PX,superfamily_PX LINGO4 339398 genome.wustl.edu 37 1 151773461 151773461 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001004432.2 -1 provisional p.A574T 1.000 59 0% 114 11.4% 0 - benign(0.087) tolerated(0.28) neutral(0.038) NULL FLG 2312 genome.wustl.edu 37 1 152275687 152275687 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002016.1 -1 reviewed p.R3892L 0.000 279 0% 518 33.2% 0 - unknown(0) tolerated(0.12) - NULL DENND4B 9909 genome.wustl.edu 37 1 153911490 153911490 + Missense_Mutation SNP G G C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014856.2 -1 validated p.H617Q 1.000 289 0% 637 58.4% 8 62.5% benign(0.023) tolerated(1) neutral(0.001) HMMPfam_dDENN,HMMSmart_dDENN TPM3 7170 genome.wustl.edu 37 1 154148620 154148620 + Missense_Mutation SNP T T G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152263.2 -1 reviewed p.E116D 1.000 551 0.2% 522 30.5% 301 29.5% possibly_damaging(0.911) tolerated(0.05) deleterious(0.708) HMMPfam_Tropomyosin ADAR 103 genome.wustl.edu 37 1 154558735 154558735 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001111.3 -1 reviewed p.R1042C 1.000 60 0% 124 12.1% 123 8.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A_deamin,HMMSmart_SM00552 DCST1 149095 genome.wustl.edu 37 1 155020385 155020385 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152494.2 +1 validated p.A579T 0.928 206 0.5% 249 14.5% 0 - possibly_damaging(0.876) deleterious(0.04) deleterious(0.690) HMMPfam_DC_STAMP COPA 1314 genome.wustl.edu 37 1 160261966 160261966 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001098398.1 -1 reviewed p.G1004C 1.000 200 0% 240 16.3% 133 13.5% possibly_damaging(0.779) tolerated(0.18) neutral(0.347) HMMPfam_COPI_C FAM20B 9917 genome.wustl.edu 37 1 179013236 179013236 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014864.3 +1 validated p.G85V 1.000 184 0% 215 11.2% 14 7.1% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL CACNA1E 777 genome.wustl.edu 37 1 181690939 181690939 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000721.2 +1 reviewed p.R668C 1.000 326 0% 526 32.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181724387 181724387 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000721.2 +1 reviewed p.C1281 0.970 328 0% 424 12.5% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C1orf27 54953 genome.wustl.edu 37 1 186352234 186352234 + Silent SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_017847.5 +1 validated p.P60 0.638 358 0% 601 34.1% 10 30% - - - NULL PKP1 5317 genome.wustl.edu 37 1 201286743 201286743 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000299.2 +1 reviewed p.R297H 0.986 20 0% 32 21.9% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat CDK18 5129 genome.wustl.edu 37 1 205496979 205496979 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_212503.2 +1 validated p.H293Y 1.000 275 0% 371 11.9% 26 7.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase SYT14 255928 genome.wustl.edu 37 1 210334372 210334372 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_153262.2 +1 validated p.A551 0.000 287 0% 357 12% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RPS6KC1 26750 genome.wustl.edu 37 1 213415961 213415961 + Silent SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_012424.3 +1 validated p.S957 1.000 805 0% 873 12.7% 22 9% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SMYD2 56950 genome.wustl.edu 37 1 214505380 214505380 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020197.2 +1 validated p.E319 1.000 181 0.6% 302 12.9% 100 13% - - - NULL HLX 3142 genome.wustl.edu 37 1 221057573 221057573 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_021958.3 +1 validated p.R332W 1.000 38 2.6% 39 25.6% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 MIA3 375056 genome.wustl.edu 37 1 222838874 222838874 + Silent SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_198551.2 +1 validated p.L1879 0.001 183 0% 234 58.5% 80 60% - - - NULL EPHX1 2052 genome.wustl.edu 37 1 226027718 226027718 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000120.3 +1 reviewed p.C304Y 0.930 160 0% 193 15% 699 16.4% benign(0.013) deleterious(0) neutral(0.445) HMMPfam_Abhydrolase_1,superfamily_SSF53474 OR2C3 81472 genome.wustl.edu 37 1 247695681 247695681 + Missense_Mutation SNP T T C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_198074.4 -1 validated p.I45V 0.000 363 0% 431 11.6% 0 - benign(0) tolerated(0.86) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 OR2T33 391195 genome.wustl.edu 37 1 248436963 248436963 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001004695.1 -1 provisional p.R52W 0.000 698 0% 912 29.6% 1 0% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ACP1 52 genome.wustl.edu 37 2 272206 272206 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001040649.2 +1 reviewed p.A96V 0.986 394 0% 426 20% 34 32.3% unknown(0) deleterious(0.04) - HMMSmart_LMWPc FNDC4 64838 genome.wustl.edu 37 2 27716824 27716824 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022823.2 -1 validated p.R143W 1.000 65 0% 114 14.9% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MAP4K3 8491 genome.wustl.edu 37 2 39559086 39559086 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003618.2 -1 reviewed p.R168W 1.000 306 0% 147 18.4% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPTBN1 6711 genome.wustl.edu 37 2 54876986 54876986 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003128.2 +1 reviewed p.D1813N 1.000 238 0% 144 16.7% 53 24.5% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat CCDC142 84865 genome.wustl.edu 37 2 74708942 74708942 + Splice_Site SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032779.3 -1 validated e1+2 1.000 43 0% 83 38.6% 0 - - - - - MRPS9 64965 genome.wustl.edu 37 2 105708908 105708908 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_182640.2 +1 reviewed p.G234D 0.000 520 0% 475 10.7% 28 17.8% benign(0.01) tolerated(0.11) neutral(0.272) NULL RGPD8 727851 genome.wustl.edu 37 2 113147650 113147650 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000302558 -1 known p.R958C 0.393 965 0% 1122 15.4% 0 - benign(0.014) deleterious(0) neutral(0.445) NULL RALB 5899 genome.wustl.edu 37 2 121047207 121047207 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002881.2 +1 reviewed p.V125 0.078 308 0% 228 43% 20 60% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7B 4648 genome.wustl.edu 37 2 128331594 128331594 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001080527.1 +1 provisional p.R231H 0.992 74 0% 84 21.4% 0 - benign(0.249) tolerated(0.09) neutral(0.322) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7B 4648 genome.wustl.edu 37 2 128389273 128389273 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001080527.1 +1 provisional p.L1706I 0.954 9 0.000 31 0.645 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MyTH4,HMMSmart_SM00139 MYO7B 4648 genome.wustl.edu 37 2 128394133 128394133 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001080527.1 +1 provisional p.P2020H 1.000 36 0% 108 15.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL DARS 1615 genome.wustl.edu 37 2 136664912 136664912 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001349.2 -1 validated p.R494C 1.000 259 0% 319 17.9% 161 21.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases LRP1B 53353 genome.wustl.edu 37 2 141081613 141081613 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000437977 -1 known p.S353L 1.000 185 0.5% 105 19% 0 - - - - HMMPfam_Ldl_recept_b,superfamily_YWTD domain TUBA4A 7277 genome.wustl.edu 37 2 220115433 220115433 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006000.1 -1 reviewed p.A330T 1.000 122 0% 91 61.5% 102 43.1% benign(0) tolerated(0.06) neutral(0.323) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C DNPEP 23549 genome.wustl.edu 37 2 220250247 220250247 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_012100.2 -1 reviewed p.R225W 0.998 74 0% 85 42.4% 91 40.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Peptidase_M18,superfamily_SSF53187 NEU2 4759 genome.wustl.edu 37 2 233899246 233899246 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_005383.2 +1 reviewed p.R208* 0.000 71 0% 51 41.2% 0 - - - - superfamily_Sialidase CAPN10 11132 genome.wustl.edu 37 2 241530423 241530423 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_023083.2 +1 reviewed p.Y155 0.998 34 0% 92 40.2% 8 37.5% - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases AQP12A 375318 genome.wustl.edu 37 2 241631576 241631576 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_198998.1 +1 provisional p.A70V 0.020 42 0% 58 37.9% 11 0% benign(0) tolerated(1) - superfamily_MIP SETMAR 6419 genome.wustl.edu 37 3 4358391 4358391 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006515.3 +1 validated p.R506* 0.788 23 0% 41 46.3% 22 31.8% - - - HMMPfam_Transposase_1 NEK10 152110 genome.wustl.edu 37 3 27204088 27204088 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000396636 -1 known p.L958 1.000 433 0% 254 21.7% 1 0% - - - NULL TRANK1 9881 genome.wustl.edu 37 3 36896793 36896793 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014831.2 -1 provisional p.V880M 0.999 127 0% 90 21.1% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases ALAS1 211 genome.wustl.edu 37 3 52245357 52245357 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000493402 +1 known p.P60L 0.000 387 0% 254 18.9% 72 18% - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ITIH4 3700 genome.wustl.edu 37 3 52861123 52861123 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002218.4 -1 reviewed p.S114 0.076 99 0% 237 40.9% 1 100% - - - HMMSmart_SM00609,HMMPfam_VIT IL17RB 55540 genome.wustl.edu 37 3 53894168 53894168 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018725.3 +1 reviewed p.P287S 0.000 131 0% 116 22.4% 17 17.6% benign(0) tolerated(0.14) neutral(0.249) NULL FEZF2 55079 genome.wustl.edu 37 3 62356963 62356963 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018008.3 -1 validated p.T350M 1.000 103 0% 218 19.7% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LMOD3 56203 genome.wustl.edu 37 3 69167864 69167864 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_198271.3 -1 validated p.A548T 1.000 249 0.4% 193 18.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_WH2 PPP4R2 151987 genome.wustl.edu 37 3 73096426 73096426 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_174907.2 +1 provisional p.G69V 1.000 453 0% 294 18% 9 11.1% probably_damaging(1) tolerated(0.61) deleterious(0.504) HMMPfam_PPP4R2 MYH15 22989 genome.wustl.edu 37 3 108158648 108158648 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014981.1 -1 validated p.M1024T 0.001 408 0% 350 22.9% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL MORC1 27136 genome.wustl.edu 37 3 108688528 108688528 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014429.3 -1 reviewed p.M864I 0.992 379 0.3% 346 24% 0 - benign(0.001) tolerated(0.14) neutral(0.249) NULL ZBTB20 26137 genome.wustl.edu 37 3 114069377 114069377 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015642.4 -1 validated p.P443 0.052 68 0% 76 39.5% 1 0% - - - NULL PLA1A 51365 genome.wustl.edu 37 3 119336904 119336904 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015900.2 +1 validated p.H265Y 0.998 750 0% 488 20.9% 18 16.6% benign(0.004) tolerated(0.46) neutral(0.012) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases STXBP5L 9515 genome.wustl.edu 37 3 121097634 121097634 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014980.2 +1 validated p.D774N 1.000 108 0% 136 12.5% 0 - benign(0.005) tolerated(0.17) neutral(0.059) NULL ATR 545 ucsc.edu 37 3 142217557 142217557 + Frame_Shift_Del DEL T - - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001184.3 -1 reviewed p.R1814fs 1 - - - - - - - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_TPR-like GPR87 53836 genome.wustl.edu 37 3 151012383 151012383 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_023915.3 -1 validated p.A217 0.000 468 0% 322 40.4% 1 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SHOX2 6474 genome.wustl.edu 37 3 157820489 157820489 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006884.3 -1 reviewed p.G178fs 1.000 - - - - - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 GFM1 85476 genome.wustl.edu 37 3 158362443 158362443 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024996.5 +1 reviewed p.A7V 0.001 4 0.000 11 0.545 5 20% unknown(0) tolerated(0.28) - NULL PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006218.2 +1 reviewed p.E542K 1.000 242 0% 193 38.3% 3 33.3% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold TTC14 151613 genome.wustl.edu 37 3 180320986 180320986 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_133462.3 +1 validated p.R121* 1.000 953 0.1% 927 39.9% 4 25% - - - NULL CCDC50 152137 genome.wustl.edu 37 3 191093124 191093124 + Missense_Mutation SNP T T C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_178335.2 +1 reviewed p.I241T 0.971 250 0% 242 47.5% 11 27.2% possibly_damaging(0.438) tolerated(0.32) neutral(0.167) NULL MUC4 4585 genome.wustl.edu 37 3 195505719 195505719 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018406.5 -1 reviewed p.S4116 0.005 21 0% 406 19% 0 - - - - NULL CPLX1 10815 genome.wustl.edu 37 4 786320 786322 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006651.3 -1 reviewed p.E36in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Synaphin WFS1 7466 genome.wustl.edu 37 4 6303353 6303353 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006005.3 +1 reviewed p.R611C 0.960 62 0% 196 14.8% 108 10.1% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL ABLIM2 84448 genome.wustl.edu 37 4 8009786 8009786 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001130083.1 -1 validated p.R540* 1.000 108 0% 134 44.8% 0 - - - - NULL KIAA1211 57482 genome.wustl.edu 37 4 57180633 57180633 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020722.1 +1 validated p.R322H 0.000 36 0% 21 42.9% 0 - unknown(0) tolerated(0.16) - NULL ANKRD17 26057 genome.wustl.edu 37 4 74013046 74013046 + Silent SNP T T A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032217.3 -1 reviewed p.G557 1.000 246 0% 127 23.6% 3 33.3% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LIN54 132660 genome.wustl.edu 37 4 83905797 83905798 + Frame_Shift_Del DEL TG TG - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_194282.2 -1 validated p.T67fs 1.000:1.000 - - - - - - - - - NULL FAT4 79633 genome.wustl.edu 37 4 126238080 126238080 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024582.4 +1 validated p.R172C 0.997 27 0% 22 50% 0 - benign(0.357) tolerated(0.18) neutral(0.169) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MFSD8 256471 genome.wustl.edu 37 4 128851956 128851956 + Missense_Mutation SNP T T A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152778.2 -1 reviewed p.T294S 1.000 156 0% 142 18.3% 2 0% benign(0.08) tolerated(0.09) neutral(0.302) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter DCLK2 166614 genome.wustl.edu 37 4 151142889 151142889 + Missense_Mutation SNP A A T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001040260.2 +1 validated p.K398M 1.000 432 0% 456 17.5% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRBA 987 genome.wustl.edu 37 4 151511893 151511893 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000509835 -1 known p.W708* 0.999 314 0% 261 16.5% 24 16.6% - - - NULL SFRP2 6423 genome.wustl.edu 37 4 154702746 154702746 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003013.2 -1 reviewed p.E249K 1.000 432 0% 467 45.6% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 HELT 391723 genome.wustl.edu 37 4 185941547 185941547 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001029887.1 +1 provisional p.R202H 1.000 24 0% 38 21.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hairy_orange EXOC3 11336 genome.wustl.edu 37 5 447746 447746 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_007277.4 +1 reviewed p.D81 0.635 37 0% 44 18.2% 29 10.3% - - - NULL BRD9 65980 genome.wustl.edu 37 5 891803 891805 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000467963 -1 known p.K73in_frame_del 0.975:1.000:1.000 - - - - - - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82817499 82817499 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004385.4 +1 reviewed p.R1125H 0.000 186 0% 147 45.6% 2 50% possibly_damaging(0.484) tolerated(0.08) neutral(0.461) NULL EPB41L4A 64097 genome.wustl.edu 37 5 111540123 111540123 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022140.3 -1 validated p.R442Q 0.985 409 0% 434 42.2% 1 0% benign(0.373) tolerated(0.07) neutral(0.438) NULL TSSK1B 83942 genome.wustl.edu 37 5 112770389 112770389 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032028.3 -1 validated p.A50T 0.006 174 0% 121 20.7% 0 - benign(0) tolerated(0.76) neutral(0.001) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PSD2 84249 genome.wustl.edu 37 5 139216544 139216544 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032289.2 +1 provisional p.V518I 0.973 77 0% 143 17.5% 0 - benign(0.002) tolerated(0.26) neutral(0.034) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PCDHA3 56145 genome.wustl.edu 37 5 140181048 140181048 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018906.2 +1 reviewed p.R89Q 0.994 120 0% 155 21.9% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140229367 140229367 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_031857.1 +1 reviewed p.D429 0.229 45 0% 79 45.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GPX3 2878 genome.wustl.edu 37 5 150407669 150407669 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002084.3 +1 reviewed p.A220V 0.029 51 0% 69 15.9% 249 10.4% unknown(0) - - NULL HRH2 3274 genome.wustl.edu 37 5 175110632 175110632 + Silent SNP A A C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001131055.1 +1 reviewed p.P132 0.000 326 0% 214 20.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MBOAT1 154141 genome.wustl.edu 37 6 20152860 20152860 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001080480.1 -1 provisional p.F80 1.000 234 0% 252 19% 14 57.1% - - - NULL CUL7 9820 genome.wustl.edu 37 6 43014744 43014744 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014780.4 -1 reviewed p.K757N 0.996 203 0% 129 46.5% 14 57.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MRPL2 51069 genome.wustl.edu 37 6 43023356 43023356 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015950.3 -1 reviewed p.G211V 1.000 164 0% 121 14% 51 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribosomal_L2_C,superfamily_Transl_SH3_like MUT 4594 genome.wustl.edu 37 6 49415412 49415412 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000255.3 -1 reviewed p.R511* 1.000 600 0% 264 18.6% 10 0% - - - HMMPfam_MM_CoA_mutase,superfamily_Cobalamin (vitamin B12)-dependent enzymes GCM1 8521 genome.wustl.edu 37 6 52995722 52995722 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003643.3 -1 reviewed p.G150E 1.000 739 0% 738 22.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCM,superfamily_GCM_motif GCM1 8521 genome.wustl.edu 37 6 52995723 52995723 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003643.3 -1 reviewed p.G150R 1.000 752 0% 743 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCM,superfamily_GCM_motif HCRTR2 3062 genome.wustl.edu 37 6 55147082 55147082 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001526.3 +1 reviewed p.R389C 0.998 190 0% 183 43.7% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Orexin_rec2,superfamily_SSF81321 IMPG1 3617 genome.wustl.edu 37 6 76744412 76744412 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001563.2 -1 provisional p.Q132* 0.966 131 0% 162 21.6% 0 - - - - NULL RNF146 81847 genome.wustl.edu 37 6 127608679 127608679 + Silent SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_030963.2 +1 provisional p.S306 1.000 316 0.3% 305 20.3% 30 30% - - - NULL EYA4 2070 genome.wustl.edu 37 6 133789775 133789775 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004100.4 +1 reviewed p.A292 0.407 274 0% 207 12.1% 0 - - - - NULL GRM1 2911 genome.wustl.edu 37 6 146351082 146351082 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000838.3 +1 reviewed p.D143 0.039 85 0% 104 12.5% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 FNDC1 84624 genome.wustl.edu 37 6 159654465 159654465 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032532.2 +1 validated p.R974H 0.019 57 0% 66 19.7% 0 - unknown(0) deleterious(0.01) - NULL LINC00574 80069 genome.wustl.edu 37 6 170201273 170201273 + RNA SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NR_026780.1 +1 validated NULL 0.000 409 0.2% 341 19.4% 0 - - - - - EIF3B 8662 genome.wustl.edu 37 7 2412411 2412411 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001037283.1 +1 validated p.N597 0.647 91 0% 192 11.5% 109 13.7% - - - HMMPfam_eIF2A,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain PMS2 5395 genome.wustl.edu 37 7 6027101 6027101 + Missense_Mutation SNP T T C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000535.5 -1 reviewed p.N432S 0.000 97 0% 221 19.5% 9 44.4% benign(0) tolerated(0.65) neutral(0.003) NULL DNAH11 8701 genome.wustl.edu 37 7 21784597 21784597 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003777.3 +1 reviewed p.T2816M 0.000 209 0% 357 20.2% 0 - benign(0.006) deleterious(0.03) neutral(0.364) superfamily_P-loop containing nucleoside triphosphate hydrolases WBSCR17 64409 genome.wustl.edu 37 7 70885989 70885989 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022479.1 +1 reviewed p.R287Q 1.000 115 0% 146 14.4% 0 - benign(0.033) tolerated(0.42) neutral(0.015) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases BAZ1B 9031 genome.wustl.edu 37 7 72883891 72883891 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032408.3 -1 validated p.C941Y 0.866 400 0% 530 20.2% 33 24.2% benign(0) tolerated(0.12) neutral(0.261) NULL PCOLCE 5118 genome.wustl.edu 37 7 100201096 100201096 + Missense_Mutation SNP T T C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002593.3 +1 reviewed p.Y47H 1.000 310 0% 231 45% 17 0% probably_damaging(0.978) tolerated(0.53) neutral(0.428) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MUC12 10071 genome.wustl.edu 37 7 100647880 100647880 + Missense_Mutation SNP G G A rs144292724 by1000genomes TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000379442 +1 known p.R4822H 0.001 479 0% 798 44.4% 0 - probably_damaging(0.997) - - NULL SLC26A3 1811 genome.wustl.edu 37 7 107427351 107427351 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000111.2 -1 reviewed p.V298M 0.997 364 0% 407 23.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Sulfate_transp SND1 27044 genome.wustl.edu 37 7 127292440 127292440 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014390.2 +1 validated p.A5T 1.000 65 0% 30 36.7% 104 26.9% unknown(0) tolerated(0.68) - NULL CNOT4 4850 genome.wustl.edu 37 7 135080546 135080546 + Silent SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_013316.2 -1 validated p.R320 1.000 958 0% 701 45.4% 7 57.1% - - - NULL PRSS1 5644 genome.wustl.edu 37 7 142459721 142459721 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002769.3 +1 reviewed p.Y99 0.204 325 0.3% 392 37% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ATP6V0E2 155066 genome.wustl.edu 37 7 149575787 149575787 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_145230.2 +1 validated p.A107V 1.000 14 0% 31 25.8% 61 24.5% benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_ATP_synt_H LMBR1 64327 genome.wustl.edu 37 7 156480753 156480753 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022458.3 -1 reviewed p.A453V 1.000 306 0% 159 19.5% 15 0% possibly_damaging(0.919) deleterious(0.03) deleterious(0.734) NULL EFCAB1 79645 genome.wustl.edu 37 8 49643197 49643197 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024593.3 -1 validated p.R74Q 1.000 263 0% 393 42% 3 33.3% probably_damaging(0.987) tolerated(0.61) neutral(0.441) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 KCNB2 9312 genome.wustl.edu 37 8 73849033 73849033 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004770.2 +1 reviewed p.S481 0.000 73 1.4% 57 45.6% 0 - - - - HMMPfam_Kv2channel CSMD3 114788 genome.wustl.edu 37 8 113678638 113678638 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_198123.1 -1 validated p.C895Y 1.000 332 0% 179 39.1% 0 - benign(0.007) deleterious(0) neutral(0.445) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TG 7038 genome.wustl.edu 37 8 133911051 133911051 + Missense_Mutation SNP A A T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003235.4 +1 reviewed p.T1076S 0.000 178 0% 139 46% 0 - benign(0) tolerated(1) - HMMSmart_SM00211,superfamily_Thyroglobulin type-1 domain EPPK1 83481 genome.wustl.edu 37 8 144942328 144942328 + Silent SNP G G A rs146777869 by1000genomes TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_031308.1 -1 validated p.R1698 0.081 3 0.000 112 0.464 0 - - - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat EPPK1 83481 genome.wustl.edu 37 8 144945174 144945174 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_031308.1 -1 validated p.D750N 1.000 9 0.000 129 0.450 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat CYC1 1537 genome.wustl.edu 37 8 145151587 145151587 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001916.3 +1 validated p.P238T 1.000 30 0% 74 47.3% 203 41.8% benign(0.018) deleterious(0.02) neutral(0.384) HMMPfam_Cytochrom_C1,superfamily_Cytochrome c FOXD4 2298 genome.wustl.edu 37 9 117000 117000 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_207305.3 -1 validated p.A374T 0.013 83 0% 111 33.3% 2 50% benign(0.118) deleterious(0) neutral(0.454) NULL TAF1L 138474 genome.wustl.edu 37 9 32633201 32633201 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_153809.2 -1 provisional p.R793W 1.000 1102 0% 904 43.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DCTN3 11258 genome.wustl.edu 37 9 34617877 34617877 + Silent SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000447983 -1 known p.N91 0.882 182 0% 212 42.5% 0 - - - - HMMPfam_Dynactin_p22 C9orf80 58493 genome.wustl.edu 37 9 115456311 115456311 + Splice_Site SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000476599 -1 known NULL 0.003 175 0% 115 26.1% 0 - - - - - DFNB31 25861 genome.wustl.edu 37 9 117170230 117170230 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015404.3 -1 reviewed p.S565 0.989 128 0% 155 14.8% 4 0% - - - NULL STRBP 55342 genome.wustl.edu 37 9 125920700 125920700 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018387.4 -1 validated p.G282S 1.000 542 0% 316 47.2% 31 38.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DZF,HMMSmart_SM00572 ENG 2022 genome.wustl.edu 37 9 130605436 130605436 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001114753.1 -1 reviewed p.G52 1.000 65 0% 98 21.4% 32 21.8% - - - NULL PTGES2 80142 genome.wustl.edu 37 9 130883534 130883534 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_025072.5 -1 reviewed p.R342C 0.997 49 0% 124 18.5% 177 19.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_GST_C,superfamily_GST_C_like LCN1 3933 genome.wustl.edu 37 9 138414010 138414010 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002297.2 +1 reviewed p.K70E 0.000 56 0% 54 40.7% 0 - benign(0.026) tolerated(0.57) neutral(0.007) HMMPfam_Lipocalin,superfamily_Calycin FBXW5 54461 genome.wustl.edu 37 9 139836545 139836545 + Missense_Mutation SNP T T A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018998.2 -1 reviewed p.Y350F 1.000 37 0% 213 16.9% 85 28.2% benign(0.207) tolerated(0.34) neutral(0.043) superfamily_WD40 repeat-like CACNA1B 774 genome.wustl.edu 37 9 140846741 140846741 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000718.2 +1 validated p.G328S 1.000 242 0% 303 15.5% 0 - possibly_damaging(0.848) deleterious(0) deleterious(0.770) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ZMYND11 10771 genome.wustl.edu 37 10 226059 226059 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000381591 +1 known p.R36H 1.000 339 0% 194 15.5% 19 21% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL ADARB2 105 genome.wustl.edu 37 10 1262908 1262908 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018702.2 -1 reviewed p.C555 1.000 31 0% 53 26.4% 0 - - - - HMMPfam_A_deamin,HMMSmart_ADEAMc ITIH2 3698 genome.wustl.edu 37 10 7791261 7791261 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002216.2 +1 validated p.F935 0.810 191 0% 214 42.5% 2 100% - - - NULL RPP38 10557 genome.wustl.edu 37 10 15145353 15145353 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001097590.1 +1 validated p.R14C 0.661 78 0% 99 19.2% 18 22.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CUBN 8029 genome.wustl.edu 37 10 17145225 17145225 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001081.3 -1 reviewed p.S477P 0.004 220 0% 283 16.3% 0 - possibly_damaging(0.819) tolerated(0.18) neutral(0.365) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain GPR158 57512 genome.wustl.edu 37 10 25887338 25887338 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020752.2 +1 validated p.R928H 0.003 174 0% 129 15.5% 0 - possibly_damaging(0.861) deleterious(0.02) deleterious(0.716) NULL MYO3A 53904 genome.wustl.edu 37 10 26463197 26463197 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_017433.4 +1 reviewed p.Q1335R 0.004 369 0% 402 43.5% 0 - benign(0.261) tolerated(0.4) neutral(0.043) superfamily_SSF52540 TET1 80312 genome.wustl.edu 37 10 70332337 70332337 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_030625.2 +1 validated p.R81H 0.997 138 0% 126 35.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NEUROG3 50674 genome.wustl.edu 37 10 71332229 71332229 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020999.3 -1 reviewed p.R191* 0.016 18 0% 11 36.4% 0 - - - - NULL AIFM2 84883 genome.wustl.edu 37 10 71874762 71874762 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032797.4 -1 reviewed p.A295D 1.000 36 0% 70 15.7% 39 17.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_FAD/NAD(P)-binding domain KIAA0913 23053 genome.wustl.edu 37 10 75557209 75557209 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015037.2 +1 validated p.R1170* 1.000 83 0% 119 15.1% 29 6.8% - - - NULL C10orf11 83938 genome.wustl.edu 37 10 77807059 77807059 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032024.3 +1 provisional p.Y104 1.000 196 0% 225 24% 36 16.6% - - - superfamily_Outer arm dynein light chain 1 PTEN 5728 genome.wustl.edu 37 10 89692802 89692802 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000371953 +1 known p.P96T 1.000 838 0.1% 468 22.9% 17 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II RRP12 23223 genome.wustl.edu 37 10 99148070 99148070 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015179.3 -1 validated p.P319L 1.000 61 0% 138 47.1% 37 56.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat DMBT1 1755 genome.wustl.edu 37 10 124402766 124402766 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_007329.2 +1 reviewed p.C2365Y 1.000 162 0% 175 20.6% 18 61.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Zona_pellucida,HMMSmart_SM00241 RIC8A 60626 genome.wustl.edu 37 11 209505 209505 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_021932.4 +1 provisional p.R77 0.613 34 0% 63 44.4% 47 46.8% - - - HMMPfam_Ric8 CDHR5 53841 genome.wustl.edu 37 11 618014 618014 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_021924.4 -1 reviewed p.L686 0.000 5 0.000 35 0.171 0 - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1155589 1155589 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000406844 +1 known p.D93N 1.000 9 0.000 33 0.485 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWD,HMMSmart_SM00216 MUC5B 727897 genome.wustl.edu 37 11 1267706 1267706 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002458.1 +1 validated p.T3202M 0.000 174 0% 685 15.8% 33 21.2% unknown(0) - - NULL CTR9 9646 genome.wustl.edu 37 11 10797148 10797148 + Silent SNP G G A rs182230438 by1000genomes TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014633.3 +1 provisional p.S1021 0.025 323 0% 232 39.2% 50 50% - - - NULL KCNC1 3746 genome.wustl.edu 37 11 17793415 17793415 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001112741.1 +1 reviewed p.F258 1.000 589 0.2% 467 38.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels MUC15 143662 genome.wustl.edu 37 11 26587113 26587113 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001135091.1 -1 validated p.G125D 0.000 566 0% 608 23% 0 - probably_damaging(0.993) tolerated(0.75) neutral(0.452) NULL LOC120824 120824 genome.wustl.edu 37 11 49000454 49000454 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 XM_062300.6 -1 model p.M236I 0.070 95 0% 98 52% 0 - - - - NULL CCND1 595 genome.wustl.edu 37 11 69466019 69466019 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_053056.2 +1 reviewed p.T286I 1.000 8 0.000 18 0.500 30 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STARD10 10809 genome.wustl.edu 37 11 72466074 72466074 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006645.2 -1 validated p.A248 0.769 33 0% 43 39.5% 121 47.1% - - - NULL FAT3 120114 genome.wustl.edu 37 11 92600211 92600211 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001008781.2 +1 validated p.S3988L 1.000 13 0% 14 42.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CWF19L2 143884 genome.wustl.edu 37 11 107312295 107312295 + Silent SNP T T C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152434.2 -1 validated p.S168 0.831 965 0% 417 39.6% 2 0% - - - NULL FOXR1 283150 genome.wustl.edu 37 11 118849746 118849746 + Silent SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_181721.2 +1 reviewed p.G72 0.000 144 0% 141 37.6% 0 - - - - NULL ARHGEF12 23365 genome.wustl.edu 37 11 120278499 120278499 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015313.1 +1 reviewed p.E37K 1.000 540 0% 344 48% 6 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ETS1 2113 genome.wustl.edu 37 11 128354833 128354833 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001143820.1 -1 validated p.Y249 1.000 487 0% 305 45.2% 10 20% - - - NULL TEAD4 7004 genome.wustl.edu 37 12 3104123 3104123 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003213.2 +1 reviewed p.R64H 1.000 45 0% 74 43.2% 22 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TEA,HMMSmart_TEA COPS7A 50813 genome.wustl.edu 37 12 6838576 6838576 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_016319.2 +1 validated p.R164H 1.000 183 0% 157 16.6% 112 23.2% benign(0.158) tolerated(0.12) neutral(0.275) HMMSmart_SM00088 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_033360.2 -1 reviewed p.G12D 1.000 250 0% 344 20.6% 8 12.5% 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 PTHLH 5744 genome.wustl.edu 37 12 28116635 28116635 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_198965.1 -1 reviewed p.R57Q 0.873 246 0% 177 47.5% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Parathyroid,HMMSmart_SM00087 PUS7L 83448 genome.wustl.edu 37 12 44124341 44124341 + Silent SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001098614.1 -1 validated p.P648 0.611 578 0% 389 19% 2 0% - - - HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom OR10AD1 121275 genome.wustl.edu 37 12 48596997 48596997 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001004134.1 -1 provisional p.L27I 0.568 288 0% 151 15.2% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_Family A G protein-coupled receptor-like FAM186A 121006 genome.wustl.edu 37 12 50746182 50746182 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001145475.1 -1 provisional p.A1478V 0.000 390 0% 373 10.7% 0 - possibly_damaging(0.454) tolerated(0.17) neutral(0.207) NULL KRT7 3855 genome.wustl.edu 37 12 52639249 52639249 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_005556.3 +1 reviewed p.A346 0.010 38 0% 45 44.4% 81 38.2% - - - HMMPfam_Filament KRT81 3887 genome.wustl.edu 37 12 52680144 52680144 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002281.3 -1 reviewed p.C471 0.246 29 0% 24 29.2% 0 - - - - NULL OR10P1 121130 genome.wustl.edu 37 12 56031574 56031574 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_206899.1 +1 provisional p.R300M 0.000 94 0% 87 16.1% 0 - benign(0.001) tolerated(0.08) neutral(0.300) superfamily_SSF81321 SRGAP1 57522 genome.wustl.edu 37 12 64519843 64519843 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020762.2 +1 validated p.L771 1.000 362 0% 348 14.9% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain PTPRB 5787 genome.wustl.edu 37 12 70964964 70964964 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001109754.1 -1 reviewed p.L1071P 1.000 222 0% 272 21.3% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III STAB2 55576 genome.wustl.edu 37 12 104067696 104067696 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_017564.9 +1 reviewed p.V795I 0.236 102 0% 113 43.4% 0 - benign(0) tolerated(0.61) neutral(0.004) NULL TCTN1 79600 genome.wustl.edu 37 12 111085688 111085688 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001082538.2 +1 reviewed p.P590 0.120 134 0% 175 21.1% 69 18.8% unknown(0) - - NULL TMEM132D 121256 genome.wustl.edu 37 12 130184746 130184746 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_133448.2 -1 validated p.V193M 0.996 10 0% 24 41.7% 0 - probably_damaging(0.988) tolerated(0.09) deleterious(0.734) NULL CDX2 1045 genome.wustl.edu 37 13 28537390 28537390 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001265.3 -1 validated p.P268 1.000 107 0% 236 44.1% 4 75% - - - NULL MTUS2 23281 genome.wustl.edu 37 13 29600584 29600584 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001033602.2 +1 validated p.T593 0.000 139 0% 115 33% 0 - - - - NULL GTF2F2 2963 genome.wustl.edu 37 13 45725855 45725855 + Missense_Mutation SNP A A T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004128.2 +1 validated p.I65F 1.000 460 0% 336 45.5% 44 54.5% possibly_damaging(0.455) tolerated(0.07) neutral(0.468) HMMPfam_TFIIF_beta,superfamily_TFIIF_interactn CDADC1 81602 genome.wustl.edu 37 13 49854644 49854644 + Splice_Site SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_030911.2 +1 validated e8-1 1.000 359 0% 171 47.4% 0 - - - - - DACH1 1602 genome.wustl.edu 37 13 72131220 72131220 + Silent SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_080759.4 -1 reviewed p.P502 0.998 349 0% 362 42.5% 5 20% - - - NULL SLITRK5 26050 genome.wustl.edu 37 13 88329881 88329881 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015567.1 +1 validated p.G746 1.000 42 0% 39 38.5% 0 - - - - NULL SLC15A1 6564 genome.wustl.edu 37 13 99358445 99358445 + Missense_Mutation SNP G G C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_005073.3 -1 reviewed p.N404K 0.000 1037 0.1% 550 14.5% 3 33.3% benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_PTR2,superfamily_MFS general substrate transporter NALCN 259232 genome.wustl.edu 37 13 102047577 102047577 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_052867.2 -1 validated p.T83M 1.000 146 0% 138 15.9% 0 - probably_damaging(1) tolerated(0.33) deleterious(0.524) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TEP1 7011 genome.wustl.edu 37 14 20863724 20863724 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_007110.4 -1 reviewed p.R605C 0.000 352 0% 284 20.4% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_TROVE HECTD1 25831 genome.wustl.edu 37 14 31585572 31585572 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015382.2 -1 validated p.R1830C 1.000 348 0.3% 299 14% 13 7.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL KIAA0586 9786 genome.wustl.edu 37 14 58924494 58924494 + Missense_Mutation SNP T T A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014749.3 +1 validated p.S460R 0.000 516 0% 369 40.9% 4 25% benign(0.282) tolerated(0.1) neutral(0.373) NULL C14orf38 729665 genome.wustl.edu 37 14 59992037 59992037 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000281581 -1 known p.A653V 0.000 1853 0% 563 45.1% 0 - benign(0.001) tolerated(1) - NULL SLC10A1 6554 genome.wustl.edu 37 14 70263788 70263788 + Missense_Mutation SNP C C T rs148905100 by1000genomes TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003049.3 -1 validated p.V29I 0.000 142 0% 168 13.7% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72152328 72152328 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015556.1 +1 provisional p.D1118 0.749 102 0% 56 17.9% 5 40% - - - NULL TC2N 123036 genome.wustl.edu 37 14 92268600 92268600 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001128595.1 -1 validated p.S156L 1.000 150 0% 181 19.9% 16 25% possibly_damaging(0.727) deleterious(0) deleterious(0.709) NULL UNC79 57578 genome.wustl.edu 37 14 94173206 94173206 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020818.3 +1 validated p.E2445* 1.000 187 0% 180 17.2% 0 - - - - NULL MAGEL2 54551 genome.wustl.edu 37 15 23890252 23890252 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_019066.4 -1 reviewed p.R277C 0.003 44 0% 47 19.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GABRA5 2558 genome.wustl.edu 37 15 27188418 27188418 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000810.3 +1 reviewed p.P312S 1.000 83 0% 64 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM TRPM1 4308 genome.wustl.edu 37 15 31294507 31294507 + Silent SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002420.4 -1 reviewed p.R1444 0.003 301 0.3% 209 47.8% 0 - - - - NULL LCMT2 9836 genome.wustl.edu 37 15 43621889 43621889 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014793.3 -1 reviewed p.G267C 0.149 18 0% 43 27.9% 5 0% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_LCM,superfamily_SSF53335 GNB5 10681 genome.wustl.edu 37 15 52446255 52446255 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_016194.3 -1 reviewed p.R86Q 1.000 169 0% 154 14.9% 31 16.1% benign(0.217) tolerated(0.32) neutral(0.045) superfamily_WD40 repeat-like NARG2 79664 genome.wustl.edu 37 15 60741457 60741457 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024611.4 -1 validated p.S570I 0.001 322 0% 259 12% 12 16.6% benign(0.16) deleterious(0.04) neutral(0.363) NULL SEMA7A 8482 genome.wustl.edu 37 15 74703179 74703179 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003612.3 -1 reviewed p.C596Y 1.000 61 0% 151 11.9% 14 7.1% probably_damaging(0.998) tolerated(0.3) deleterious(0.503) HMMSmart_IG,superfamily_SSF48726 ALPK3 57538 genome.wustl.edu 37 15 85411452 85411452 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020778.4 +1 validated p.P1830L 0.960 60 0% 81 21% 16 56.2% benign(0.195) deleterious(0.02) neutral(0.402) superfamily_Protein kinase-like (PK-like) AKAP13 11214 genome.wustl.edu 37 15 86123779 86123779 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006738.4 +1 reviewed p.G827D 0.000 88 0% 61 47.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RGS11 8786 genome.wustl.edu 37 16 321412 321412 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_183337.1 -1 reviewed p.S245 0.366 52 0% 128 48.4% 0 - - - - HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain LMF1 64788 genome.wustl.edu 37 16 1004463 1004463 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022773.2 -1 reviewed p.G133R 0.997 33 0% 130 19.2% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLCN7 1186 genome.wustl.edu 37 16 1501651 1501651 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001287.4 -1 reviewed p.V474M 1.000 10 0% 72 37.5% 27 33.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Voltage_CLC,superfamily_Cl-channel_core SLX4 84464 genome.wustl.edu 37 16 3640473 3640473 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032444.2 -1 provisional p.L1056fs 0.014 - - - - - - - - - NULL PYDC1 260434 genome.wustl.edu 37 16 31228130 31228130 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152901.2 -1 provisional p.R74C 0.000 14 0% 25 24% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_PAAD_DAPIN,superfamily_DEATH domain ZNF423 23090 genome.wustl.edu 37 16 49671396 49671396 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_015069.2 -1 reviewed p.T556M 0.901 103 0% 277 19.1% 0 - possibly_damaging(0.732) deleterious(0.01) deleterious(0.673) NULL NLRC5 84166 genome.wustl.edu 37 16 57111676 57111677 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032206.3 +1 validated p.E1656fs 0.000:0.001 - - - - - - - - - HMMSmart_SM00368,HMMSmart_SM00367,superfamily_RNI-like CES3 23491 genome.wustl.edu 37 16 67006865 67006865 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024922.4 +1 validated p.W543* 0.000 67 0% 113 33.6% 17 35.2% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases CTCF 10664 genome.wustl.edu 37 16 67662451 67662451 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006565.2 +1 reviewed p.R566H 1.000 404 0% 355 46.5% 35 74.2% possibly_damaging(0.848) tolerated(0.61) neutral(0.330) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSNAXIP1 55815 genome.wustl.edu 37 16 67859094 67859094 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018430.2 +1 validated p.R191* 0.999 64 1.6% 112 13.4% 5 20% - - - NULL ATXN1L 342371 genome.wustl.edu 37 16 71885093 71885093 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001137675.2 +1 validated p.R484W 1.000 139 0% 241 22% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AXH,superfamily_Ataxin-1_HBP1 MAP2K4 6416 genome.wustl.edu 37 17 12044509 12044509 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003010.2 +1 reviewed p.A378T 1.000 483 0% 348 39.7% 7 42.8% possibly_damaging(0.905) deleterious(0) deleterious(0.804) superfamily_Kinase_like UTP6 55813 genome.wustl.edu 37 17 30221991 30221993 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018428.2 -1 validated p.R72in_frame_del 0.807:0.980:1.000 - - - - - - - - - HMMPfam_U3_assoc_6 GPATCH8 23131 genome.wustl.edu 37 17 42476381 42476381 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001002909.1 -1 validated p.R1022C 0.876 286 0% 172 19.8% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM25 7706 genome.wustl.edu 37 17 54969559 54969559 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_005082.4 -1 reviewed p.T465 0.049 66 0% 66 18.2% 12 8.3% - - - HMMSmart_SM00589 MPO 4353 genome.wustl.edu 37 17 56349219 56349219 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000250.1 -1 reviewed p.P609 0.009 26 0% 63 41.3% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases BRIP1 83990 genome.wustl.edu 37 17 59878795 59878795 + Missense_Mutation SNP C C G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_032043.1 -1 reviewed p.S320T 1.000 591 0% 364 47% 1 100% benign(0.027) tolerated(0.24) neutral(0.039) HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX42 11325 genome.wustl.edu 37 17 61889430 61889430 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_007372.2 +1 reviewed p.E513* 1.000 324 0% 262 12.6% 31 0% - - - HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases TEX2 55852 genome.wustl.edu 37 17 62291282 62291282 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018469.3 -1 validated p.S99F 0.885 73 0% 107 15% 3 33.3% probably_damaging(0.961) deleterious(0.04) deleterious(0.753) NULL GNA13 10672 genome.wustl.edu 37 17 63010815 63010815 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_006572.4 -1 validated p.R232C 1.000 367 0% 243 22.2% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases SDK2 54549 genome.wustl.edu 37 17 71395349 71395349 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001144952.1 -1 provisional p.Y1017 0.967 29 0% 64 51.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RECQL5 9400 genome.wustl.edu 37 17 73654449 73654449 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004259.5 -1 validated p.R360C 1.000 77 1.3% 136 20.6% 15 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases TBC1D16 125058 genome.wustl.edu 37 17 77987190 77987190 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_019020.2 -1 provisional p.Q53* 1.000 10 0% 26 42.3% 13 61.5% - - - NULL LRRC30 339291 genome.wustl.edu 37 18 7231617 7231617 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001105581.1 +1 provisional p.D161N 0.977 61 0% 78 16.7% 0 - benign(0.136) tolerated(0.3) neutral(0.040) HMMPfam_LRR_1,superfamily_SSF52058 CTAGE1 64693 genome.wustl.edu 37 18 19997364 19997364 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_172241.2 -1 validated p.A137 0.001 986 0% 415 21.4% 0 - - - - NULL DSG3 1830 genome.wustl.edu 37 18 29045299 29045299 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001944.2 +1 reviewed p.N430 0.003 301 0% 202 41.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin KATNAL2 83473 genome.wustl.edu 37 18 44584616 44584616 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_031303.2 +1 validated p.D43N 0.817 261 0% 294 40.8% 6 50% benign(0.002) tolerated(0.5) neutral(0.010) NULL ZNF532 55205 genome.wustl.edu 37 18 56651407 56651407 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018181.4 +1 validated p.C1205 1.000 86 0% 54 44.4% 25 28% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 WDR18 57418 genome.wustl.edu 37 19 985937 985937 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024100.3 +1 reviewed p.V95I 0.495 16 0% 92 28.3% 121 14.8% benign(0.045) tolerated(0.72) neutral(0.004) HMMSmart_WD40,superfamily_WD40_like PTPRS 5802 genome.wustl.edu 37 19 5221156 5221156 + Missense_Mutation SNP T T C novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002850.3 -1 reviewed p.S1104G 1.000 33 0% 119 14.3% 38 21% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FUT5 2527 genome.wustl.edu 37 19 5867492 5867492 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002034.2 -1 validated p.T82M 0.758 13 0% 64 15.6% 1 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_Glyco_transf_10 MUC16 94025 genome.wustl.edu 37 19 9067527 9067527 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024690.2 -1 validated p.G6640D 0.000 547 0% 267 19.9% 6 0% unknown(0) - - NULL NWD1 284434 genome.wustl.edu 37 19 16860863 16860863 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001007525.2 +1 validated p.S335 0.000 20 0% 33 42.4% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases USHBP1 83878 genome.wustl.edu 37 19 17362437 17362437 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_031941.3 -1 validated p.R626W 0.000 19 0% 87 46% 6 16.6% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL DDX49 54555 genome.wustl.edu 37 19 19035777 19035777 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_019070.4 +1 validated p.T339M 1.000 31 0% 95 41.1% 106 49% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 ATP13A1 57130 genome.wustl.edu 37 19 19756473 19756473 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020410.2 -1 validated p.V1163M 1.000 21 0% 58 41.4% 236 39.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM42 79171 genome.wustl.edu 37 19 36128138 36128138 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024321.3 +1 provisional p.P405L 1.000 85 0% 91 47.3% 237 41.3% unknown(0) deleterious(0) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SIRT2 22933 genome.wustl.edu 37 19 39384477 39384477 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_012237.2 -1 reviewed p.A32T 0.002 105 0% 139 53.2% 24 75% unknown(0) tolerated(0.49) - NULL HIPK4 147746 genome.wustl.edu 37 19 40886516 40886516 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_144685.3 -1 provisional p.I461T 0.000 67 0% 43 16.3% 0 - benign(0) tolerated(1) - NULL ATP1A3 478 genome.wustl.edu 37 19 42474633 42474633 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152296.3 -1 reviewed p.P775 0.121 611 0.2% 345 48.4% 0 - - - - superfamily_SSF81665 KLK6 5653 genome.wustl.edu 37 19 51466770 51466770 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001012964.1 -1 reviewed p.R78Q 0.001 55 0% 125 41.6% 0 - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases VSIG10L 147645 genome.wustl.edu 37 19 51840493 51840493 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000335624 -1 known p.A323 0.104 136 0% 99 40.4% 1 100% - - - NULL MBOAT7 79143 genome.wustl.edu 37 19 54684695 54684695 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_024298.3 -1 reviewed p.V217M 1.000 4 0.000 20 0.650 26 57.6% benign(0.414) deleterious(0.03) deleterious(0.498) HMMPfam_MBOAT PPP6R1 22870 genome.wustl.edu 37 19 55758375 55758375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014931.3 -1 validated p.V33M 1.000 18 0% 29 24.1% 16 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EPN1 29924 genome.wustl.edu 37 19 56206349 56206349 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001130071.1 +1 validated p.G594R 0.988 31 0% 42 50% 140 24.2% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ZSCAN5B 342933 genome.wustl.edu 37 19 56701381 56701381 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001080456.2 -1 validated p.G435R 0.000 548 0% 317 44.5% 0 - possibly_damaging(0.908) tolerated(0.22) neutral(0.403) superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57065671 57065671 + Missense_Mutation SNP A A G novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020828.1 +1 provisional p.D506G 0.671 249 0% 167 16.2% 2 50% probably_damaging(0.976) tolerated(0.19) neutral(0.467) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SMOX 54498 genome.wustl.edu 37 20 4162837 4162837 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_175839.1 +1 reviewed p.S237 0.001 31 0% 36 22.2% 9 22.2% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain BPIFB1 92747 genome.wustl.edu 37 20 31890779 31890779 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_033197.2 +1 reviewed p.E347K 0.000 237 0% 131 42.7% 0 - benign(0.086) tolerated(0.61) neutral(0.010) superfamily_Bactericidal permeability-increasing protein BPI ITCH 83737 genome.wustl.edu 37 20 33077688 33077688 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_031483.4 +1 reviewed p.R759H 1.000 358 0% 498 42.2% 11 54.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain NCOA6 23054 genome.wustl.edu 37 20 33328871 33328871 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_014071.2 -1 reviewed p.R1730Q 0.905 117 0% 280 41.1% 29 51.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C20orf111 51526 genome.wustl.edu 37 20 42826067 42826067 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_016470.6 -1 provisional p.D168 0.000 244 0% 232 13.8% 52 7.6% - - - HMMPfam_DUF776 PCIF1 63935 genome.wustl.edu 37 20 44576373 44576373 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_022104.3 +1 validated p.S698 0.999 9 0.000 25 0.360 91 53.8% - - - NULL SULF2 55959 genome.wustl.edu 37 20 46331358 46331358 + Nonsense_Mutation SNP T T A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_018837.3 -1 validated p.K158* 1.000 70 0% 66 19.7% 5 20% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like PTGIS 5740 genome.wustl.edu 37 20 48129747 48129747 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_000961.3 -1 reviewed p.R359H 0.999 197 0% 121 22.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 SALL4 57167 genome.wustl.edu 37 20 50408175 50408175 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020436.3 -1 reviewed p.G283C 0.765 50 0% 81 23.5% 0 - possibly_damaging(0.928) deleterious(0.02) deleterious(0.758) NULL YTHDF1 54915 genome.wustl.edu 37 20 61834477 61834477 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_017798.3 -1 validated p.G272D 1.000 11 0% 32 21.9% 23 17.3% benign(0.398) deleterious(0.03) deleterious(0.492) NULL CHAF1B 8208 genome.wustl.edu 37 21 37785268 37785268 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_005441.2 +1 reviewed p.P383H 0.991 244 0% 143 15.4% 16 25% probably_damaging(1) tolerated(0.23) deleterious(0.541) superfamily_WD40_like MX2 4600 genome.wustl.edu 37 21 42749779 42749779 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002463.1 +1 reviewed p.D105N 1.000 43 0% 81 46.9% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_DYNc,superfamily_SSF52540 DNMT3L 29947 genome.wustl.edu 37 21 45671549 45671549 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_013369.2 -1 reviewed p.Y242 0.979 50 0% 82 18.3% 0 - - - - NULL HIRA 7290 genome.wustl.edu 37 22 19393342 19393342 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_003325.3 -1 reviewed p.R122W 1.000 39 0% 85 17.6% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 C22orf25 128989 genome.wustl.edu 37 22 20043533 20043533 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_152906.4 +1 validated p.P150S 0.975 189 0% 215 19.1% 9 11.1% possibly_damaging(0.741) tolerated(0.17) neutral(0.331) HMMPfam_DUF833 NEFH 4744 genome.wustl.edu 37 22 29886096 29886096 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_021076.3 +1 reviewed p.P823T 0.991 161 0% 166 26.5% 0 - unknown(0) deleterious(0.01) - NULL PES1 23481 genome.wustl.edu 37 22 30975268 30975268 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000441668 -1 known p.G66R 0.873 84 0% 224 40.2% 104 43.2% - - - NULL NCF4 4689 genome.wustl.edu 37 22 37271769 37271769 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000415063 +1 known p.R98* 0.269 235 0.4% 97 20.6% 5 0% - - - superfamily_SH3-domain GGA1 26088 genome.wustl.edu 37 22 38017631 38017631 + Silent SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_013365.4 +1 reviewed p.A179 0.985 35 0% 71 14.1% 41 21.9% - - - superfamily_GAT-like domain KCNJ4 3761 genome.wustl.edu 37 22 38823367 38823367 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004981.1 -1 reviewed p.S257 0.135 33 0% 105 47.6% 0 - - - - HMMPfam_IRK,superfamily_Ig_E-set C22orf40 150383 genome.wustl.edu 37 22 46643085 46643085 + Silent SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_207327.4 -1 validated p.P49 1.000 53 0% 122 10.7% 12 25% - - - HMMPfam_C6_DPF TTC38 55020 genome.wustl.edu 37 22 46668266 46668266 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_017931.2 +1 validated p.G49D 1.000 58 0% 153 20.9% 22 27.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SBF1 6305 genome.wustl.edu 37 22 50903452 50903452 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_002972.2 -1 validated p.R437H 1.000 49 0% 105 16.2% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLR8 51311 genome.wustl.edu 37 X 12937829 12937829 + Missense_Mutation SNP C C A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_138636.4 +1 reviewed p.L224I 0.584 144 0% 80 38.8% 0 - probably_damaging(0.964) deleterious(0.04) deleterious(0.755) HMMPfam_LRR_1,superfamily_SSF52047 REPS2 9185 genome.wustl.edu 37 X 17043253 17043253 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_004726.2 +1 reviewed p.V206 1.000 406 0% 288 39.9% 3 0% - - - NULL GAGE1 2543 genome.wustl.edu 37 X 49368385 49368385 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001468.3 +1 reviewed p.T107M 0.000 789 0% 496 11.9% 0 - benign(0.008) tolerated(0.32) neutral(0.024) HMMPfam_GAGE COL4A5 1287 genome.wustl.edu 37 X 107936002 107936002 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_033380.1 +1 reviewed p.R1518H 1.000 365 0% 344 16.9% 24 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold LRCH2 57631 genome.wustl.edu 37 X 114468287 114468287 + Silent SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_020871.3 -1 validated p.S106 0.118 66 0% 68 47.1% 0 - - - - superfamily_SSF52058 NKRF 55922 genome.wustl.edu 37 X 118724258 118724258 + Missense_Mutation SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_017544.3 -1 reviewed p.R377H 1.000 171 0.6% 281 37.7% 6 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like SLC9A6 10479 genome.wustl.edu 37 X 135106589 135106589 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001042537.1 +1 reviewed p.T521 0.102 739 0.1% 610 40.7% 9 88.8% - - - HMMPfam_Na_H_Exchanger FAM58A 92002 genome.wustl.edu 37 X 152858167 152858167 + Missense_Mutation SNP G G T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000276345 -1 known p.L150I 0.823 29 0% 55 23.6% 36 47.2% possibly_damaging(0.653) deleterious(0.01) deleterious(0.635) HMMSmart_CYCLIN,superfamily_Cyclin_like PNCK 139728 genome.wustl.edu 37 X 152937105 152937105 + Missense_Mutation SNP G G A novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 NM_001039582.3 -1 validated p.T229M 0.979 82 0% 203 20.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000203870 0 genome.wustl.edu 37 X 154059066 154059066 + Silent SNP C C T novel TCGA-B5-A0JV-01A-11D-A10B-09 TCGA-B5-A0JV-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0db5f5d3-492f-452d-b5fd-d544c73f6afe 02d0460c-bd14-44d0-aa6c-5be57d572604 ENST00000369529 -1 known p.E22 0.000 576 0% 348 17.8% 0 - - - - NULL