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 NPHP4 261734 genome.wustl.edu 37 1 5933357 5933357 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_015102.2 -1 reviewed p.A1090 0.000 145 0% 119 41.2% 38 42.1% - - - NULL PHC2 1912 genome.wustl.edu 37 1 33838022 33838022 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_198040.2 -1 reviewed p.Q67 1.000 59 0% 40 35% 3 33.3% - - - NULL HOOK1 51361 genome.wustl.edu 37 1 60325916 60325916 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000371208 +1 known p.G483D 0.988 175 0% 131 38.2% 6 66.6% benign(0.024) tolerated(0.11) neutral(0.273) HMMPfam_HOOK LMO4 8543 genome.wustl.edu 37 1 87805261 87805261 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006769.3 +1 reviewed p.S93 0.825 241 0% 211 42.7% 152 36.1% - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CADM3 57863 genome.wustl.edu 37 1 159162507 159162507 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_021189.3 +1 validated p.L157 0.998 94 0% 81 38.3% 0 - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 IGFN1 91156 genome.wustl.edu 37 1 201163353 201163353 + Missense_Mutation SNP A A C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000451870 +1 known p.S27R 0.990 46 0% 39 10.3% 0 - benign(0.265) deleterious(0.01) neutral(0.433) superfamily_Immunoglobulin LIN9 286826 genome.wustl.edu 37 1 226465524 226465524 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_173083.2 -1 provisional p.L228F 1.000 307 0% 220 43.2% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DIRP RYR2 6262 genome.wustl.edu 37 1 237957284 237957284 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001035.2 +1 reviewed p.V4634I 1.000 163 0% 118 47.5% 0 - possibly_damaging(0.906) - - NULL BUB1 699 genome.wustl.edu 37 2 111423848 111423848 + Missense_Mutation SNP T T C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_004336.3 -1 reviewed p.R317G 0.000 176 0% 169 46.2% 9 33.3% benign(0) deleterious(0.03) neutral(0.364) NULL PLA2R1 22925 genome.wustl.edu 37 2 160824123 160824123 + Missense_Mutation SNP A A T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_007366.3 -1 validated p.L944H 0.000 265 0.8% 251 39.8% 2 0% benign(0.012) tolerated(0.07) neutral(0.320) NULL METTL8 79828 genome.wustl.edu 37 2 172248708 172248708 + Splice_Site SNP C C G novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000375258 -1 known e1-1 1.000 102 0% 72 34.7% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179398887 179398887 + Missense_Mutation SNP T T A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000356127 -1 known p.H31582L 0.984 93 0% 54 42.6% 0 - benign(0.424) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set SLC40A1 30061 genome.wustl.edu 37 2 190430212 190430212 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_014585.5 -1 reviewed p.G210R 0.995 127 0% 107 40.2% 237 40.5% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_MFS general substrate transporter NYAP2 57624 genome.wustl.edu 37 2 226446755 226446755 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_020864.1 +1 validated p.D208N 1.000 41 0% 40 52.5% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL SCN5A 6331 genome.wustl.edu 37 3 38592678 38592678 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001099404.1 -1 reviewed p.D1729N 1.000 124 0% 110 45.5% 2 0% possibly_damaging(0.917) tolerated(0.09) deleterious(0.664) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CTNNB1 1499 genome.wustl.edu 37 3 41266125 41266125 + Missense_Mutation SNP C C T rs121913413 byCluster TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001098209.1 +1 reviewed p.T41I 1.000 98 0% 89 37.1% 180 36.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CADPS 8618 genome.wustl.edu 37 3 62739421 62739421 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_003716.3 -1 reviewed p.R195C 1.000 41 0% 34 38.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL COPG1 22820 genome.wustl.edu 37 3 128985900 128985900 + Frame_Shift_Del DEL A A - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_016128.3 +1 validated p.Q501fs 1.000 - - - - - - - - - HMMPfam_Adaptin_N,superfamily_ARM repeat KY 339855 genome.wustl.edu 37 3 134329042 134329042 + Silent SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_178554.4 -1 validated p.T298 1.000 63 0% 40 40% 2 100% - - - NULL STAG1 10274 genome.wustl.edu 37 3 136076647 136076647 + Missense_Mutation SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_005862.2 -1 reviewed p.Q994K 1.000 244 0% 168 33.9% 6 0% benign(0.025) tolerated(0.19) neutral(0.051) NULL TSC22D2 9819 genome.wustl.edu 37 3 150127626 150127626 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_014779.2 +1 provisional p.R163 1.000 18 0% 18 66.7% 7 42.8% - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178916891 178916891 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006218.2 +1 reviewed p.R93Q 1.000 113 0% 90 55.6% 0 - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006218.2 +1 reviewed p.C420R 1.000 99 0% 82 37.8% 1 100% probably_damaging(0.992) tolerated(0.24) deleterious(0.485) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB HTR3C 170572 genome.wustl.edu 37 3 183776266 183776266 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_130770.2 +1 reviewed p.T204M 0.000 100 0% 114 43% 0 - possibly_damaging(0.925) tolerated(0.18) neutral(0.429) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD VWA5B2 90113 genome.wustl.edu 37 3 183951154 183951154 + Missense_Mutation SNP C C G novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_138345.1 +1 provisional p.P167A 0.998 19 0% 16 37.5% 1 0% benign(0.014) tolerated(0.73) neutral(0.002) NULL MUC4 4585 genome.wustl.edu 37 3 195509292 195509292 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_018406.5 -1 reviewed p.H2925 0.000 292 0.3% 285 33% 25 44% - - - NULL MUC4 4585 genome.wustl.edu 37 3 195512338 195512338 + Missense_Mutation SNP G G C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_018406.5 -1 reviewed p.T2038S 0.008 508 0% 509 19.4% 14 42.8% possibly_damaging(0.609) - - NULL ZNF721 170960 genome.wustl.edu 37 4 437318 437318 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_133474.2 -1 validated p.A313V 0.577 130 0% 120 35% 4 25% probably_damaging(0.973) tolerated(0.12) deleterious(0.675) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288413 100288413 genome.wustl.edu 37 4 53610597 53610597 + Missense_Mutation SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 XM_002342451.1 -1 model p.C364F 0.000 394 0% 309 38.8% 7 42.8% - - - NULL GYPB 2994 genome.wustl.edu 37 4 144921617 144921617 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000283128 -1 known p.R50W 0.001 50 0% 36 41.7% 0 - - - - HMMPfam_Glycophorin_A FAT1 2195 genome.wustl.edu 37 4 187527260 187527260 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_005245.3 -1 reviewed p.P3438 0.000 165 0% 123 50.4% 63 55.5% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like IRX2 153572 genome.wustl.edu 37 5 2747696 2747696 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001134222.1 -1 validated p.G466 1.000 31 0% 30 30% 0 - - - - NULL POLR3G 10622 genome.wustl.edu 37 5 89802444 89802444 + Missense_Mutation SNP G G A rs140910392 by1000genomes TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006467.2 +1 validated p.D180N 0.082 465 0.2% 357 35.3% 0 - unknown(0) tolerated(0.17) - NULL PRR16 51334 genome.wustl.edu 37 5 120022234 120022234 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_016644.1 +1 provisional p.P226S 1.000 165 0% 125 37.6% 2 50% benign(0.008) tolerated(0.31) neutral(0.027) NULL PCDHA3 56145 genome.wustl.edu 37 5 140181686 140181686 + Missense_Mutation SNP A A G novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_018906.2 +1 reviewed p.I302V 0.876 113 0% 104 42.3% 0 - benign(0.014) tolerated(0.17) neutral(0.059) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140237661 140237661 + Missense_Mutation SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_018901.2 +1 reviewed p.K676N 0.001 14 0% 11 72.7% 0 - benign(0.01) tolerated(0.07) neutral(0.320) NULL PCDHB3 56132 genome.wustl.edu 37 5 140481580 140481580 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_018937.2 +1 reviewed p.P449 0.000 61 0% 77 45.5% 1 0% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like ENSG00000251133 0 genome.wustl.edu 37 5 175716639 175716643 + RNA DEL CACAC CACAC - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 CACAC CACAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000505928 -1 novel NULL 0.275:0.175:0.087:0.040:0.026 - - - - - - - - - - LMAN2 10960 genome.wustl.edu 37 5 176761353 176761353 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006816.2 -1 reviewed p.T281M 0.995 72 0% 58 46.6% 1000 46.2% possibly_damaging(0.872) deleterious(0.03) deleterious(0.704) NULL FLT4 2324 genome.wustl.edu 37 5 180046493 180046494 + Splice_Site DEL AG AG - rs67637889 byCluster;by1000genomes TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000376868 -1 known e14+1 0.000:0.001 - - - - - - - - - - TAAR8 83551 genome.wustl.edu 37 6 132874778 132874778 + Missense_Mutation SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_053278.1 +1 provisional p.W316L 1.000 100 0% 73 52.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF81321 GRID2IP 392862 genome.wustl.edu 37 7 6561549 6561549 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001145118.1 -1 validated p.R320Q 1.000 121 0% 93 43% 0 - probably_damaging(0.994) tolerated(0.11) deleterious(0.724) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ CBX3 11335 genome.wustl.edu 37 7 26246057 26246057 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_007276.3 +1 reviewed p.V32M 1.000 241 0% 215 40.9% 39 41% benign(0.132) deleterious(0) neutral(0.456) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like PLOD3 8985 genome.wustl.edu 37 7 100855929 100855929 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001084.4 -1 reviewed p.P296L 1.000 45 0% 28 50% 35 57.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TMEM213 155006 genome.wustl.edu 37 7 138487709 138487709 + Silent SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001085429.1 +1 validated p.I73 0.997 15 0% 32 46.9% 1 0% - - - NULL OR2A2 442361 genome.wustl.edu 37 7 143807098 143807098 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001005480.2 +1 validated p.T141 0.000 251 0% 224 17% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 RP1 6101 genome.wustl.edu 37 8 55542312 55542312 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006269.1 +1 reviewed p.P1957L 0.067 63 0% 60 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GSDMD 79792 genome.wustl.edu 37 8 144645067 144645067 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_024736.6 +1 reviewed p.P483L 0.000 4 0.000 15 0.533 133 48.1% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL NTRK2 4915 genome.wustl.edu 37 9 87285797 87285797 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006180.3 +1 reviewed p.C45Y 1.000 120 0% 114 45.6% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 OR13C8 138802 genome.wustl.edu 37 9 107331525 107331525 + Missense_Mutation SNP T T C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001004483.1 +1 provisional p.V26A 0.083 292 0.3% 254 35.4% 0 - benign(0.122) tolerated(0.27) neutral(0.044) superfamily_SSF81321 FAM129B 64855 genome.wustl.edu 37 9 130271294 130271294 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_022833.2 -1 validated p.T426 0.005 66 0% 55 38.2% 414 51.4% - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7409699 7409699 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001029880.1 -1 provisional p.R116 1.000 80 0% 95 25.3% 0 - - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT BMS1 9790 genome.wustl.edu 37 10 43316002 43316002 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_014753.3 +1 reviewed p.R939Q 1.000 37 0% 54 40.7% 18 22.2% probably_damaging(1) tolerated(0.39) deleterious(0.516) HMMPfam_DUF663 GPRIN2 9721 genome.wustl.edu 37 10 46999867 46999867 + Silent SNP G G A rs41314465 byCluster;byFrequency TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_014696.3 +1 validated p.P329 0.000 61 0% 78 17.9% 0 - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692916 89692918 + In_Frame_Del DEL ATG ATG - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000371953 +1 known p.M134in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89725042 89725065 + Splice_Site DEL AATTTTCTTTCTCTAGGTGAAGCT AATTTTCTTTCTCTAGGTGAAGCT - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 AATTTTCTTTCTCTAGGTGAAGCT AATTTTCTTTCTCTAGGTGAAGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000371953 +1 known e9-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - - MYOF 26509 genome.wustl.edu 37 10 95121227 95121227 + Missense_Mutation SNP G G C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_013451.3 -1 reviewed p.R986G 1.000 345 0% 391 58.8% 66 50% benign(0.153) deleterious(0.05) neutral(0.359) NULL TRIM8 81603 genome.wustl.edu 37 10 104404616 104404616 + Missense_Mutation SNP T T A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_030912.2 +1 validated p.L81Q 1.000 13 0% 15 40% 51 21.5% probably_damaging(0.989) tolerated(0.15) deleterious(0.680) NULL GFRA1 2674 genome.wustl.edu 37 10 118031510 118031510 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_005264.4 -1 reviewed p.P11L 1.000 9 0.000 18 0.389 0 - unknown(0) tolerated(0.26) - NULL NLRP14 338323 genome.wustl.edu 37 11 7063747 7063747 + Missense_Mutation SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_176822.3 +1 reviewed p.H164N 0.997 166 0% 121 38.8% 0 - benign(0.129) tolerated(0.41) neutral(0.026) NULL ARHGAP20 57569 genome.wustl.edu 37 11 110477311 110477311 + Missense_Mutation SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_020809.2 -1 validated p.R313L 0.999 132 0% 96 42.7% 0 - possibly_damaging(0.831) deleterious(0) deleterious(0.760) NULL TMEM136 219902 genome.wustl.edu 37 11 120201041 120201041 + Silent SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000375095 +1 known p.V185 1.000 121 0% 101 14.9% 4 0% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 PANX3 116337 genome.wustl.edu 37 11 124489197 124489197 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_052959.2 +1 reviewed p.R182Q 0.994 90 0% 56 35.7% 0 - probably_damaging(0.985) tolerated(0.44) neutral(0.445) NULL NCAPD3 23310 genome.wustl.edu 37 11 134022868 134022868 + Nonsense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_015261.2 -1 validated p.R1490* 0.147 135 0% 88 35.2% 20 55% - - - NULL DUSP16 80824 genome.wustl.edu 37 12 12630240 12630240 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_030640.2 -1 reviewed p.V509M 0.831 58 0% 58 31% 22 54.5% benign(0.01) tolerated(0.18) neutral(0.057) NULL KRAS 3845 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 byCluster TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_033360.2 -1 reviewed p.G12C 1.000 248 0% 211 40.3% 7 28.5% benign(0.045) deleterious(0) neutral(0.447) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases LRP1 4035 genome.wustl.edu 37 12 57601857 57601857 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_002332.2 +1 reviewed p.D3966N 1.000 51 0% 42 42.9% 124 20.1% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain ALX1 8092 genome.wustl.edu 37 12 85694951 85694951 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006982.2 +1 reviewed p.A227T 1.000 221 0% 168 31.5% 0 - benign(0) tolerated(0.64) neutral(0.003) NULL TMEM132D 121256 genome.wustl.edu 37 12 129569123 129569123 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_133448.2 -1 validated p.R523Q 1.000 90 0% 101 36.6% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL NBEA 26960 genome.wustl.edu 37 13 35736014 35736014 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_015678.4 +1 validated p.R1330H 1.000 224 0% 213 39.4% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) superfamily_ARM repeat PTMAP5 150928 genome.wustl.edu 37 13 82264218 82264218 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000393073 +1 known p.V6I 0.800 32 0% 35 51.4% 69 0% - - - HMMPfam_Prothymosin SLITRK5 26050 genome.wustl.edu 37 13 88328457 88328457 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_015567.1 +1 validated p.G272R 0.999 51 0% 49 46.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00082,superfamily_L domain-like GPC6 10082 genome.wustl.edu 37 13 94482673 94482673 + Missense_Mutation SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_005708.3 +1 reviewed p.Q196K 1.000 108 0% 106 43.4% 1 0% possibly_damaging(0.659) tolerated(0.28) neutral(0.264) HMMPfam_Glypican FANCM 57697 genome.wustl.edu 37 14 45658558 45658558 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_020937.2 +1 reviewed p.P1778L 0.000 59 0% 72 31.9% 2 50% benign(0.026) tolerated(0.14) neutral(0.251) NULL MARK3 4140 genome.wustl.edu 37 14 103871418 103871418 + Silent SNP G G C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001128918.1 +1 validated p.T19 0.722 123 0% 115 47.8% 23 26% - - - NULL LOC653061 653061 genome.wustl.edu 37 15 23609308 23609311 + Frame_Shift_Del DEL CAGA CAGA - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 XM_002343325.1 +1 model p.R414fs 0.003:0.004:0.004:0.004 - - - - - - - - - NULL LOC653061 653061 genome.wustl.edu 37 15 23609313 23609314 + Frame_Shift_Ins INS - - T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 XM_002343325.1 +1 model p.G417fs 0.000:0.000 - - - - - - - - - NULL LOC653061 653061 genome.wustl.edu 37 15 23609317 23609319 + In_Frame_Del DEL TGG TGG - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 XM_002343325.1 +1 model p.G417in_frame_del 0.001:0.004:0.006 - - - - - - - - - NULL INO80 54617 genome.wustl.edu 37 15 41319796 41319796 + Nonsense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_017553.1 -1 reviewed p.R1016* 1.000 49 0% 39 53.8% 19 26.3% - - - NULL SECISBP2L 9728 genome.wustl.edu 37 15 49293239 49293239 + Nonsense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_014701.2 -1 provisional p.Q650* 1.000 152 0% 118 44.1% 2 0% - - - superfamily_SSF55315 RCN2 5955 genome.wustl.edu 37 15 77241491 77241491 + Missense_Mutation SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_002902.2 +1 reviewed p.L294F 1.000 146 0% 102 38.2% 14 28.5% possibly_damaging(0.646) deleterious(0.01) deleterious(0.632) HMMSmart_SM00054 RNF40 9810 genome.wustl.edu 37 16 30774876 30774876 + Silent SNP G G C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_014771.2 +1 reviewed p.L146 0.962 40 0% 37 35.1% 39 41% - - - NULL GINS3 64785 genome.wustl.edu 37 16 58426605 58426605 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001126129.1 +1 reviewed p.V34M 0.997 77 0% 64 28.1% 14 64.2% possibly_damaging(0.741) tolerated(0.08) deleterious(0.572) HMMPfam_Psf3 ACD 65057 genome.wustl.edu 37 16 67692860 67692860 + Frame_Shift_Del DEL G G - novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001082486.1 -1 reviewed p.H292fs 0.034 - - - - - - - - - NULL LGALS9B 284194 genome.wustl.edu 37 17 20370782 20370783 + Frame_Shift_Ins INS - - TC novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001042685.1 -1 validated p.M1fs 0.878:0.831 - - - - - - - - - NULL NF1 4763 genome.wustl.edu 37 17 29483098 29483098 + Nonsense_Mutation SNP T T A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001042492.2 +1 reviewed p.L53* 1.000 198 0% 162 40.7% 1 0% - - - NULL MMP28 79148 genome.wustl.edu 37 17 34093678 34093678 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_024302.3 -1 reviewed p.A468V 1.000 8 0.000 11 0.364 0 - - - - NULL FBF1 85302 genome.wustl.edu 37 17 73918029 73918029 + Missense_Mutation SNP G G C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001080542.1 -1 provisional p.S493W 0.000 87 0% 60 38.3% 6 16.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL AFMID 125061 genome.wustl.edu 37 17 76201796 76201796 + Nonsense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001145526.1 +1 validated p.R253* 1.000 90 0% 70 17.1% 7 0% - - - superfamily_alpha/beta-Hydrolases AATK 9625 genome.wustl.edu 37 17 79095191 79095191 + Missense_Mutation SNP T T G novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001080395.2 -1 reviewed p.S849R 0.000 19 0% 23 47.8% 0 - benign(0.412) deleterious(0) deleterious(0.578) NULL FASN 2194 genome.wustl.edu 37 17 80041514 80041514 + Silent SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_004104.4 -1 reviewed p.G1740 0.014 30 0% 32 21.9% 163 42.9% - - - HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains LAMA1 284217 genome.wustl.edu 37 18 6956505 6956516 + In_Frame_Del DEL CAGCTCCAGCTC CAGCTCCAGCTC - rs11270496 byCluster;by1000genomes TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 CAGCTCCAGCTC CAGCTCCAGCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000344342 -1 known p.GAGA189in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.001:0.000:0.000 - - - - - - - - - NULL SLC35G4 646000 genome.wustl.edu 37 18 11610212 11610212 + Silent SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 XM_928960.2 +1 model p.G206 0.991 140 0% 121 31.4% 0 - - - - NULL MAPK4 5596 genome.wustl.edu 37 18 48255562 48255562 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_002747.3 +1 reviewed p.R368W 0.997 30 0% 25 48% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL MFSD12 126321 genome.wustl.edu 37 19 3546365 3546365 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_021731.2 -1 validated p.A361V 0.170 17 0% 17 41.2% 217 34.1% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HPN 3249 genome.wustl.edu 37 19 35557170 35557170 + Silent SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_002151.2 +1 reviewed p.S411 0.995 68 0% 39 41% 10 70% - - - NULL ATP4A 495 genome.wustl.edu 37 19 36051399 36051399 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_000704.2 -1 reviewed p.A218V 0.972 66 0% 88 36.4% 0 - benign(0.016) tolerated(0.12) neutral(0.261) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 ZNF793 390927 genome.wustl.edu 37 19 38028335 38028335 + Missense_Mutation SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001013659.2 +1 validated p.D259Y 0.947 138 0% 134 51.5% 2 0% benign(0.313) deleterious(0.01) deleterious(0.503) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000230510 0 genome.wustl.edu 37 19 47030212 47030212 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000414155 -1 known p.V66M 1.000 34 0% 38 60.5% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_PPP5 EIF2S2 8894 genome.wustl.edu 37 20 32677652 32677652 + Missense_Mutation SNP G G C novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_003908.3 -1 reviewed p.R296G 1.000 259 0% 195 43.6% 267 35.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_eIF-5_eIF-2B,HMMSmart_SM00653,superfamily_Zinc-binding domain of translation initiation factor 2 beta TIAM1 7074 genome.wustl.edu 37 21 32496840 32496840 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_003253.2 -1 validated p.V1436M 1.000 117 0% 78 37.2% 3 33.3% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL DYRK1A 1859 genome.wustl.edu 37 21 38865409 38865409 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_001396.3 +1 reviewed p.G348R 1.000 313 0% 246 39.8% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TXNRD2 10587 genome.wustl.edu 37 22 19864692 19864692 + Missense_Mutation SNP A A G novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006440.3 -1 reviewed p.V504A 1.000 18 0% 22 54.5% 75 52% possibly_damaging(0.765) deleterious(0) deleterious(0.728) HMMPfam_Pyr_redox_dim,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain ENSG00000215615 0 genome.wustl.edu 37 GL000218.1 39934 39934 + Missense_Mutation SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000400681 -1 known p.R128L NULL 1815 1.2% 1418 16.7% 60 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tektin ENSG00000210082 0 genome.wustl.edu 37 MT 2553 2553 + RNA SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000387347 +1 known NULL NULL 251 0% 539 18.6% 8006 17.9% - - - - GTPBP6 8225 genome.wustl.edu 37 X 229480 229480 + Missense_Mutation SNP G G A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000429643 -1 known p.T84M 0.070 63 0% 55 36.4% 299 39.4% benign(0.015) deleterious(0.01) neutral(0.406) NULL OFD1 8481 genome.wustl.edu 37 X 13769457 13769457 + Missense_Mutation SNP A A G novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_003611.2 +1 reviewed p.Y342C 0.998 208 0% 145 39.3% 1 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SYN1 6853 genome.wustl.edu 37 X 47435550 47435550 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_006950.3 -1 reviewed p.G380R 1.000 125 0% 127 39.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like AR 367 genome.wustl.edu 37 X 66941743 66941743 + Missense_Mutation SNP G G T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_000044.2 +1 reviewed p.G796V 1.000 168 0% 175 33.1% 9 100% probably_damaging(0.988) tolerated(0.83) neutral(0.438) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain NKRF 55922 genome.wustl.edu 37 X 118724250 118724250 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_017544.3 -1 reviewed p.V380M 1.000 132 0% 122 22.1% 12 58.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like MAP7D3 79649 genome.wustl.edu 37 X 135313852 135313852 + Missense_Mutation SNP C C T novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 NM_024597.3 -1 reviewed p.A422T 0.000 99 0% 82 46.3% 0 - benign(0.062) tolerated(0.45) neutral(0.016) NULL MIR224 407009 genome.wustl.edu 37 X 151127070 151127070 + RNA SNP C C A novel TCGA-BG-A187-01A-11D-A12J-09 TCGA-BG-A187-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 944c21c1-52b3-4e91-a82c-af28138c2aa8 e7343d8e-55c0-4cc6-9da8-c6a070749af2 ENST00000384889 -1 known NULL 0.684 290 0% 228 42.1% 0 - - - - -