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 DMAP1 55929 genome.wustl.edu 37 1 44685535 44685535 + Missense_Mutation SNP C C G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001034023.1 +1 reviewed p.L346V 1.000 356 0% 151 55% 44 54.5% benign(0) tolerated(0.2) neutral(0.049) HMMPfam_DMAP1 ARHGAP29 9411 genome.wustl.edu 37 1 94674816 94674816 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_004815.3 -1 validated p.G144E 1.000 315 0% 53 35.8% 23 17.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NFASC 23114 genome.wustl.edu 37 1 204943900 204943900 + Missense_Mutation SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_015090.3 +1 reviewed p.A514T 1.000 194 0% 89 49.4% 2 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 C2orf61 285051 genome.wustl.edu 37 2 47378548 47378548 + Missense_Mutation SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_173649.2 -1 validated p.P83L 0.001 1193 0.1% 237 18.1% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL MSH6 2956 genome.wustl.edu 37 2 48027952 48027952 + Missense_Mutation SNP A A G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_000179.2 +1 reviewed p.I944V 1.000 193 0% 28 42.9% 24 41.6% benign(0.005) tolerated(0.06) neutral(0.323) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_IV MTIF2 4528 genome.wustl.edu 37 2 55470694 55470694 + Missense_Mutation SNP A A C novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001005369.1 -1 reviewed p.H474Q 0.992 1075 0% 203 42.9% 35 48.5% benign(0.127) tolerated(0.17) neutral(0.069) NULL FAM178B 51252 genome.wustl.edu 37 2 97626052 97626052 + Missense_Mutation SNP C C G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001122646.2 -1 validated p.R255P 0.018 62 0% 32 18.8% 0 - possibly_damaging(0.878) tolerated(0.05) deleterious(0.688) NULL TLK1 9874 genome.wustl.edu 37 2 171974262 171974262 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_012290.4 -1 validated p.S82N 1.000 414 0% 59 18.6% 20 20% benign(0.045) tolerated(0.08) neutral(0.302) NULL USP37 57695 genome.wustl.edu 37 2 219399411 219399411 + Silent SNP T T G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_020935.2 -1 validated p.T233 1.000 605 0% 229 27.5% 2 100% - - - NULL GRAMD1C 54762 genome.wustl.edu 37 3 113627947 113627947 + Missense_Mutation SNP C C A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_017577.4 +1 validated p.T311N 1.000 192 0% 42 19% 3 0% benign(0.344) tolerated(0.23) neutral(0.150) NULL PIK3CA 5290 genome.wustl.edu 37 3 178936093 178936093 + Missense_Mutation SNP G G T rs121913275 TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_006218.2 +1 reviewed p.E545D 1.000 219 0% 59 28.8% 7 14.2% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold CC2D2A 57545 genome.wustl.edu 37 4 15529098 15529098 + Missense_Mutation SNP A A G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001080522.2 +1 reviewed p.H393R 0.881 344 0% 94 18.1% 13 23% benign(0.001) tolerated(0.81) neutral(0.001) NULL EXOC1 55763 genome.wustl.edu 37 4 56759865 56759865 + Silent SNP A A G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001024924.1 +1 reviewed p.Q624 0.999 167 0% 43 20.9% 21 23.8% - - - HMMPfam_Sec3 SERPINB6 5269 genome.wustl.edu 37 6 2953314 2953314 + Silent SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_004568.4 -1 validated p.K179 0.000 105 1% 65 55.4% 60 76.6% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CFB 629 genome.wustl.edu 37 6 31917235 31917236 + Frame_Shift_Ins INS - - TGAA novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001710.5 +1 reviewed p.I439fs 0.019:0.006 - - - - - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ABCA13 154664 genome.wustl.edu 37 7 48407438 48407438 + Missense_Mutation SNP C C A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_152701.3 +1 reviewed p.T3579K 0.999 952 0.1% 114 14.9% 0 - probably_damaging(0.957) - - NULL DOK2 9046 genome.wustl.edu 37 8 21766982 21766982 + Missense_Mutation SNP G G C novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_003974.2 -1 reviewed p.P360R 0.800 7 0.000 11 0.727 4 0% benign(0.06) deleterious(0.01) neutral(0.410) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33524338 33524339 + Frame_Shift_Ins INS - - ATCGCGGGTTTGGGGGTGG novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 XM_001718334.2 +1 model p.V125fs 0.562:0.557 - - - - - - - - - superfamily_Ankyrin repeat PTPN3 5774 genome.wustl.edu 37 9 112207525 112207525 + Missense_Mutation SNP A A T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_002829.3 -1 reviewed p.V154E 0.999 253 0.4% 74 32.4% 12 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 ADARB2 105 genome.wustl.edu 37 10 1229278 1229278 + Missense_Mutation SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_018702.2 -1 reviewed p.T692M 0.625 30 0% 77 58.4% 27 66.6% benign(0.057) tolerated(0.11) neutral(0.275) HMMPfam_A_deamin,HMMSmart_ADEAMc SYT15 83849 genome.wustl.edu 37 10 46968621 46968621 + Silent SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_031912.3 -1 reviewed p.P105 0.004 8 0.000 41 0.220 1 0% - - - NULL SUPV3L1 6832 genome.wustl.edu 37 10 70947405 70947405 + Silent SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_003171.3 +1 provisional p.A155 0.996 285 0% 93 37.6% 16 68.7% - - - superfamily_SSF52540 SORCS1 114815 genome.wustl.edu 37 10 108380256 108380256 + Missense_Mutation SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001013031.1 -1 reviewed p.A909V 0.989 95 0% 39 43.6% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMSmart_PKD MICAL2 9645 genome.wustl.edu 37 11 12237782 12237782 + Missense_Mutation SNP C C A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_014632.2 +1 provisional p.N288K 1.000 194 0% 85 18.8% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FAD/NAD(P)-binding domain ATL3 25923 genome.wustl.edu 37 11 63398769 63398769 + Missense_Mutation SNP A A G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_015459.3 -1 validated p.F428L 1.000 203 0% 54 31.5% 36 19.4% benign(0.016) tolerated(0.32) neutral(0.025) superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain KRTAP5-10 387273 genome.wustl.edu 37 11 71249125 71249126 + Splice_Site INS - - GGCTGTGGCTCCGGCTGTGGG rs113379698 TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 ENST00000422553 +1 known e2-1 0.490:0.775 - - - - - - - - - - ZNF384 171017 genome.wustl.edu 37 12 6777070 6777072 + In_Frame_Del DEL TGC TGC - rs3835029 byCluster;by1000genomes TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001135734.1 -1 reviewed p.Q516in_frame_del 0.291:0.350:0.379 - - - - - - - - - NULL SLC2A14 144195 genome.wustl.edu 37 12 7985362 7985362 + Missense_Mutation SNP A A C novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_153449.2 -1 provisional p.F46V 1.000 229 0% 286 12.6% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LRP6 4040 genome.wustl.edu 37 12 12284914 12284914 + Missense_Mutation SNP C C G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_002336.2 -1 reviewed p.D1271H 1.000 113 0% 83 22.9% 79 18.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module SLCO1C1 53919 genome.wustl.edu 37 12 20876187 20876187 + Silent SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_017435.4 +1 reviewed p.I395 0.998 279 0% 114 59.6% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter TM7SF3 51768 genome.wustl.edu 37 12 27156255 27156255 + Missense_Mutation SNP T T G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_016551.2 -1 validated p.I54L 0.032 158 0% 91 24.2% 93 20.4% benign(0.122) tolerated(0.06) neutral(0.333) NULL PTPRQ 374462 genome.wustl.edu 37 12 80933590 80933590 + Missense_Mutation SNP C C A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 ENST00000266688 +1 known p.D1007E 1.000 470 0% 61 57.4% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DICER1 23405 genome.wustl.edu 37 14 95557629 95557629 + Missense_Mutation SNP T T G novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_030621.3 -1 reviewed p.E1813A 1.000 586 0% 101 54.5% 24 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III ATG2B 55102 genome.wustl.edu 37 14 96756142 96756142 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_018036.5 -1 validated p.A1953T 1.000 316 0% 53 26.4% 15 26.6% possibly_damaging(0.937) tolerated(0.4) neutral(0.399) NULL AGRP 181 genome.wustl.edu 37 16 67516695 67516695 + Silent SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001138.1 -1 reviewed p.P81 0.020 24 0% 15 40% 0 - - - - HMMPfam_Agouti,HMMSmart_Agouti TP53 7157 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T rs121912657 TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_000546.4 -1 reviewed p.V272M 1.000 183 0% 51 82.4% 110 93.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 MPRIP 23164 genome.wustl.edu 37 17 17039562 17039564 + In_Frame_Del DEL CAG CAG - rs3833098 byCluster;by1000genomes TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_015134.2 +1 validated p.S182in_frame_del 0.998:1.000:1.000 - - - - - - - - - NULL RAI1 10743 genome.wustl.edu 37 17 17699686 17699686 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_030665.3 +1 reviewed p.R1142C 0.983 5 0.000 30 0.467 75 62.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SCN4A 6329 genome.wustl.edu 37 17 62020211 62020211 + Silent SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_000334.4 -1 reviewed p.F1421 0.994 80 0% 127 51.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CRTC1 23373 genome.wustl.edu 37 19 18886477 18886477 + Silent SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001098482.1 +1 validated p.N529 0.591 5 0.000 9 1.000 26 96.1% - - - NULL SARS2 54938 genome.wustl.edu 37 19 39421225 39421225 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_017827.3 -1 reviewed p.G51D 1.000 11 0% 12 66.7% 35 60% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PPP2R1A 5518 genome.wustl.edu 37 19 52716323 52716323 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_014225.5 +1 reviewed p.S256F 1.000 21 0% 13 30.8% 478 51.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat SNTA1 6640 genome.wustl.edu 37 20 32000462 32000462 + Silent SNP C C T rs35938843 byCluster;byFrequency;by1000genomes TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_003098.2 -1 reviewed p.K276 0.999 4 0.000 35 0.543 52 28.8% - - - NULL SLC12A5 57468 genome.wustl.edu 37 20 44664475 44664475 + Silent SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001134771.1 +1 reviewed p.G136 0.050 73 0% 94 47.9% 0 - - - - HMMPfam_AA_permease ARFGEF2 10564 genome.wustl.edu 37 20 47605106 47605106 + Missense_Mutation SNP T T A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_006420.2 +1 reviewed p.Y814N 1.000 113 0% 27 63% 7 85.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold SIK1 150094 genome.wustl.edu 37 21 44839786 44839786 + Missense_Mutation SNP G G C novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_173354.3 -1 validated p.P358A 0.009 4 0.000 25 0.840 2 100% benign(0.023) tolerated(0.39) neutral(0.017) superfamily_Kinase_like STARD8 9754 genome.wustl.edu 37 X 67941537 67941537 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001142503.2 +1 reviewed p.A803V 1.000 34 0% 70 42.9% 4 25% possibly_damaging(0.801) deleterious(0.03) deleterious(0.666) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP STAG2 10735 genome.wustl.edu 37 X 123195681 123195681 + Missense_Mutation SNP C C T novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_001042749.1 +1 validated p.A532V 1.000 158 0% 71 40.8% 63 0% possibly_damaging(0.525) deleterious(0.04) deleterious(0.526) superfamily_ARM-type_fold FMR1 2332 genome.wustl.edu 37 X 147024819 147024819 + Missense_Mutation SNP G G A novel TCGA-BG-A0M6-01A-31D-A10B-09 TCGA-BG-A0M6-10A-01W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a21970f1-0a4c-4c8c-a26e-06f7850be008 f98d464b-50e7-4925-a851-1e7bab8643f4 NM_002024.5 +1 reviewed p.G482S 1.000 236 0% 108 38.9% 110 0% benign(0.019) tolerated(0.25) neutral(0.038) NULL