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 CLSTN1 22883 genome.wustl.edu 37 1 9791873 9791873 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001009566.1 -1 validated p.R837C 0.996 252 0% 256 25.8% 431 19.4% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) NULL ARID1A 8289 genome.wustl.edu 37 1 27100153 27100153 + Missense_Mutation SNP G G T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_006015.4 +1 reviewed p.G1317W 1.000 116 0% 106 22.6% 16 12.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ARID1A 8289 genome.wustl.edu 37 1 27101256 27101266 + Frame_Shift_Del DEL GCACGGGCTCT GCACGGGCTCT - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 GCACGGGCTCT GCACGGGCTCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_006015.4 +1 reviewed p.T1514fs 1.000:0.991:0.911:0.902:0.010:0.993:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL ZFYVE9 9372 genome.wustl.edu 37 1 52704334 52704334 + Silent SNP A A T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_004799.2 +1 reviewed p.V415 0.971 52 0% 38 21.1% 4 0% - - - NULL KCND3 3752 genome.wustl.edu 37 1 112524890 112524890 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_004980.3 -1 reviewed p.S153 0.122 59 0% 62 24.2% 3 0% - - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171526834 171526834 + Silent SNP C C G novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f ENST00000412837 +1 known p.P883R 0.077 379 0% 382 24.6% 74 24.3% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222806556 222806556 + Missense_Mutation SNP C C A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_198551.2 +1 validated p.L1148I 0.000 152 0% 133 25.6% 3 0% benign(0.156) tolerated(0.27) neutral(0.048) NULL WNT9A 7483 genome.wustl.edu 37 1 228113098 228113098 + Missense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_003395.2 -1 validated p.R73H 1.000 29 0% 30 23.3% 5 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_wnt,HMMSmart_WNT1 EXOC6B 23233 genome.wustl.edu 37 2 72740322 72740322 + Missense_Mutation SNP T T A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_015189.1 -1 validated p.Y369F 1.000 405 0% 395 19.5% 0 - possibly_damaging(0.794) tolerated(0.16) neutral(0.357) NULL SLC35F5 80255 genome.wustl.edu 37 2 114500333 114500333 + Missense_Mutation SNP A A C novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_025181.2 -1 provisional p.L229R 0.997 436 0% 308 19.5% 3 33.3% probably_damaging(0.978) tolerated(0.43) neutral(0.434) superfamily_Multidrug resistance efflux transporter EmrE PKP4 8502 genome.wustl.edu 37 2 159481458 159481458 + Nonsense_Mutation SNP T T A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_003628.3 +1 reviewed p.Y224* 1.000 216 0% 186 21% 18 16.6% - - - NULL GLB1L 79411 genome.wustl.edu 37 2 220108240 220108240 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_024506.3 -1 provisional p.T19M 0.000 80 0% 85 23.5% 0 - unknown(0) - - NULL NMUR1 10316 genome.wustl.edu 37 2 232392954 232392954 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_006056.4 -1 validated p.R260W 0.772 66 0% 102 19.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913400 byCluster TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001098209.1 +1 reviewed p.S33F 1.000 137 0% 179 21.2% 143 25.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGEF26 26084 genome.wustl.edu 37 3 153973234 153973234 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_015595.3 +1 validated p.R863H 0.997 320 0% 277 19.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC30A9 10463 genome.wustl.edu 37 4 42062225 42062225 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_006345.3 +1 validated p.G286 0.999 548 0% 463 18.6% 5 0% - - - HMMPfam_Cation_efflux POU4F2 5458 genome.wustl.edu 37 4 147561807 147561807 + Silent SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_004575.2 +1 validated p.S359 0.033 72 0% 80 20% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PIK3R1 5295 genome.wustl.edu 37 5 67591078 67591089 + In_Frame_Del DEL AGAAATTGACAA AGAAATTGACAA - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 AGAAATTGACAA AGAAATTGACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_181523.1 +1 reviewed p.EIDK558in_frame_del 0.326:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591081 67591099 + Frame_Shift_Del DEL AATTGACAAACGTATGAAC AATTGACAAACGTATGAAC - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 AATTGACAAACGTATGAAC AATTGACAAACGTATGAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_181523.1 +1 reviewed p.I559fs 1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.821:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL RASGRF2 5924 genome.wustl.edu 37 5 80369248 80369248 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_006909.1 +1 validated p.D288 0.135 160 0% 177 24.9% 4 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) RAD50 10111 genome.wustl.edu 37 5 131915092 131915092 + Missense_Mutation SNP T T C novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_005732.3 +1 reviewed p.V150A 1.000 232 0% 182 23.1% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TCOF1 6949 genome.wustl.edu 37 5 149754989 149754989 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001135243.1 +1 reviewed p.K528fs 0.001 - - - - - - - - - HMMPfam_Treacle SIM1 6492 genome.wustl.edu 37 6 100896119 100896121 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_005068.2 -1 reviewed p.E251in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_PAS,HMMPfam_PAS_3,superfamily_SSF55785 RBM33 155435 genome.wustl.edu 37 7 155537901 155537901 + Missense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_053043.2 +1 validated p.P862S 0.995 115 0% 128 18.8% 3 0% possibly_damaging(0.706) tolerated(0.2) neutral(0.303) NULL DLGAP2 9228 genome.wustl.edu 37 8 1575045 1575045 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_004745.3 +1 reviewed p.V448M 0.989 49 0% 83 19.3% 0 - possibly_damaging(0.804) deleterious(0.01) deleterious(0.708) NULL ASAH1 427 genome.wustl.edu 37 8 17924763 17924763 + Missense_Mutation SNP C C A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_004315.4 -1 reviewed p.M132I 1.000 107 0% 92 9.8% 33 30.3% benign(0) tolerated(1) - NULL SLC7A13 157724 genome.wustl.edu 37 8 87242198 87242198 + Silent SNP C C A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_138817.2 -1 validated p.L103 0.000 172 0.6% 158 27.8% 0 - - - - NULL TOP1MT 116447 genome.wustl.edu 37 8 144392337 144392337 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_052963.1 -1 reviewed p.A535V 0.073 73 0% 121 18.2% 113 35.3% benign(0) tolerated(0.27) neutral(0.034) superfamily_Topismrse_insert,superfamily_DNA_brk_join_enz,HMMSmart_TOPEUc CNTNAP3 79937 genome.wustl.edu 37 9 39176054 39176054 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_033655.3 -1 reviewed p.S321 0.199 155 0% 103 21.4% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 KIAA1217 56243 genome.wustl.edu 37 10 24762255 24762255 + Silent SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_019590.3 +1 validated p.P315 0.000 245 0% 246 25.6% 11 36.3% - - - NULL MTPAP 55149 genome.wustl.edu 37 10 30602552 30602552 + Missense_Mutation SNP T T A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_018109.3 -1 validated p.S579C 0.127 267 0% 156 26.9% 6 16.6% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f ENST00000371953 +1 known p.R130G 1.000 318 0% 287 45.6% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II CDHR5 53841 genome.wustl.edu 37 11 621818 621818 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_021924.4 -1 reviewed p.V133 0.012 83 0% 90 26.7% 0 - - - - superfamily_Cadherin-like OR4D10 390197 genome.wustl.edu 37 11 59245374 59245374 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001004705.1 +1 provisional p.V158M 0.015 232 0% 195 18.5% 0 - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KCNK4 50801 genome.wustl.edu 37 11 64060456 64060456 + Missense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f ENST00000422670 +1 known p.A14V 0.000 19 0% 19 42.1% 0 - possibly_damaging(0.465) - - NULL OR6T1 219874 genome.wustl.edu 37 11 123814065 123814065 + Missense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001005187.1 -1 provisional p.V161I 0.013 84 0% 102 24.5% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 ANKRD52 283373 genome.wustl.edu 37 12 56641844 56641844 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_173595.3 -1 validated p.K647 1.000 65 0% 63 27% 13 30.7% - - - HMMPfam_Ank,superfamily_ANK NAP1L1 4673 genome.wustl.edu 37 12 76462718 76462720 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_004537.4 -1 reviewed p.E26in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78583935 78583935 + Missense_Mutation SNP A A C novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_014903.4 +1 validated p.K2054T 1.000 98 0% 75 21.3% 0 - possibly_damaging(0.521) tolerated(0.08) deleterious(0.475) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases GAS2L3 283431 genome.wustl.edu 37 12 101017658 101017658 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_174942.1 +1 provisional p.L359 0.001 90 0% 69 27.5% 0 - - - - NULL ATP2A2 488 genome.wustl.edu 37 12 110783912 110783912 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_170665.3 +1 reviewed p.E950* 1.000 206 0% 196 27.6% 401 28.4% - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M ING1 3621 genome.wustl.edu 37 13 111372118 111372118 + Missense_Mutation SNP G G T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_005537.3 +1 reviewed p.D370Y 1.000 90 0% 112 25% 55 30.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD RNF31 55072 genome.wustl.edu 37 14 24624842 24624842 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_017999.4 +1 validated p.Q812* 1.000 154 0% 176 27.8% 23 13% - - - HMMSmart_SM00647,superfamily_RING/U-box IGHV1-58 28464 genome.wustl.edu 37 14 107078394 107078394 + Silent SNP C C T rs34508596 TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f ENST00000390628 -1 known p.T110 0.960 251 0% 207 25.1% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 MGA 23269 genome.wustl.edu 37 15 42052627 42052627 + Missense_Mutation SNP G G T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001080541.2 +1 validated p.R2482L 1.000 272 0% 270 21.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain RBBP6 5930 genome.wustl.edu 37 16 24580488 24580488 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_006910.4 +1 reviewed p.R826H 0.997 75 0% 58 10.3% 1 0% probably_damaging(1) - - NULL SLC2A4 6517 genome.wustl.edu 37 17 7188193 7188193 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001042.2 +1 reviewed p.V319I 1.000 212 0% 192 23.4% 4 0% benign(0.039) tolerated(0.31) neutral(0.029) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter CHD3 1107 genome.wustl.edu 37 17 7801815 7801815 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001005271.2 +1 reviewed p.E744* 1.000 132 0% 115 21.7% 29 3.4% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ITGB3 3690 genome.wustl.edu 37 17 45361921 45361921 + Silent SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_000212.2 +1 reviewed p.Q158 0.779 156 0% 151 24.5% 2 0% - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains COL1A1 1277 genome.wustl.edu 37 17 48268763 48268763 + Frame_Shift_Del DEL G G - novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_000088.3 -1 reviewed p.P739fs 1.000 - - - - - - - - - HMMPfam_Collagen TBC1D16 125058 genome.wustl.edu 37 17 77983988 77983988 + Silent SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_019020.2 -1 provisional p.R250 1.000 54 0% 67 23.9% 13 30.7% - - - NULL CYP2A6 1548 genome.wustl.edu 37 19 41355875 41355875 + Missense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_000762.5 -1 reviewed p.R64H 0.001 138 0% 167 41.9% 0 - benign(0.016) tolerated(0.07) neutral(0.320) HMMPfam_p450,superfamily_Cytochrome P450 MYH14 79784 genome.wustl.edu 37 19 50762440 50762440 + Missense_Mutation SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001077186.1 +1 reviewed p.R725C 0.999 41 0% 59 15.3% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26317299 26317299 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_032608.5 +1 reviewed p.V1814M 0.983 180 0% 190 22.6% 0 - probably_damaging(0.979) tolerated(0.09) deleterious(0.718) NULL SFI1 9814 genome.wustl.edu 37 22 31952985 31952985 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001007467.1 +1 validated p.R201H 0.999 210 0% 185 19.5% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CELSR1 9620 genome.wustl.edu 37 22 46760035 46760035 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_014246.1 -1 reviewed p.R2965C 0.000 49 0% 83 24.1% 15 66.6% benign(0.019) deleterious(0) neutral(0.446) NULL BCOR 54880 genome.wustl.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_001123385.1 -1 reviewed p.N1459S 1.000 171 0% 218 21.1% 34 67.6% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Ankyrin repeat MAOA 4128 genome.wustl.edu 37 X 43515638 43515638 + Missense_Mutation SNP G G C novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_000240.2 +1 reviewed p.V17L 0.991 160 0% 159 24.5% 6 66.6% benign(0.059) tolerated(0.05) neutral(0.349) superfamily_FAD/NAD(P)-binding domain MAGEA11 4110 genome.wustl.edu 37 X 148797770 148797770 + Silent SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_005366.4 +1 reviewed p.S208 0.000 159 0% 153 22.9% 0 - - - - NULL SRPK3 26576 genome.wustl.edu 37 X 153046585 153046585 + Missense_Mutation SNP G G A novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f NM_014370.3 +1 reviewed p.G15D 0.055 7 0.000 12 0.333 0 - unknown(0) tolerated(0.33) - NULL SRPK3 26576 genome.wustl.edu 37 X 153046985 153046985 + Silent SNP C C T novel TCGA-D1-A17C-01A-11D-A12J-09 TCGA-D1-A17C-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4be9886e-ef24-4119-9444-00ed45173f86 690bf963-562e-4c29-8963-90bd6f50005f ENST00000430541 +1 known p.A86V 0.000 119 0% 151 20.5% 1 0% - - - superfamily_Protein kinase-like (PK-like)