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 CAMTA1 23261 genome.wustl.edu 37 1 7797001 7797001 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_015215.1 +1 validated p.A1092T 1.000 453 0% 257 37% 1 0% probably_damaging(1) tolerated(0.41) deleterious(0.515) superfamily_Ankyrin repeat CASZ1 54897 genome.wustl.edu 37 1 10699215 10699235 + In_Frame_Del DEL CTCCTCCTCCGGCAGCTCCAG CTCCTCCTCCGGCAGCTCCAG - novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 CTCCTCCTCCGGCAGCTCCAG CTCCTCCTCCGGCAGCTCCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001079843.1 -1 validated p.LELPEEE1682in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:0.991:0.988:0.701:0.168:0.007:0.007:0.041:0.047:0.125:0.798:0.944:0.997:1.000:0.998:0.998 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27056302 27056302 + Frame_Shift_Del DEL C C - novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_006015.4 +1 reviewed p.M434fs 1.000 - - - - - - - - - NULL ZBTB8OS 339487 genome.wustl.edu 37 1 33116096 33116096 + Missense_Mutation SNP T T C novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_178547.2 -1 provisional p.N24S 1.000 331 0% 303 33.3% 32 50% benign(0.001) tolerated(0.38) neutral(0.018) NULL TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_022648.4 -1 reviewed p.Q659in_frame_del 1.000:1.000:0.994 - - - - - - - - - NULL CRELD1 78987 genome.wustl.edu 37 3 9979713 9979713 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001031717.3 +1 reviewed p.P128L 0.999 69 0% 54 38.9% 16 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HRH1 3269 genome.wustl.edu 37 3 11301159 11301159 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_000861.3 +1 reviewed p.A146T 0.006 157 0% 132 34.8% 19 68.4% benign(0.003) tolerated(0.19) neutral(0.050) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T rs121913403 byCluster TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001098209.1 +1 reviewed p.S37F 1.000 182 0% 94 33% 287 17.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BBX 56987 genome.wustl.edu 37 3 107491583 107491583 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001142568.1 +1 validated p.E339* 1.000 65 0% 51 33.3% 3 33.3% - - - NULL C3orf79 152118 genome.wustl.edu 37 3 153203872 153203872 + Missense_Mutation SNP T T G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001101337.1 +1 provisional p.I67M 0.006 265 0% 193 36.8% 0 - unknown(0) - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_006218.2 +1 reviewed p.H1047R 1.000 240 0% 146 27.4% 14 35.7% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like CRMP1 1400 genome.wustl.edu 37 4 5838609 5838609 + Silent SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001014809.1 -1 reviewed p.S445 0.997 139 0% 72 23.6% 5 0% - - - HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 PARM1 25849 genome.wustl.edu 37 4 75938015 75938015 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_015393.2 +1 validated p.A142T 0.000 228 0% 226 23.9% 103 16.5% benign(0) tolerated(0.12) neutral(0.261) NULL ALPK1 80216 genome.wustl.edu 37 4 113333026 113333027 + Frame_Shift_Ins INS - - G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001102406.1 +1 validated p.A108fs 0.978:0.000 - - - - - - - - - NULL RBM46 166863 genome.wustl.edu 37 4 155719156 155719156 + Silent SNP A A G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_144979.3 +1 validated p.Q115 1.000 406 0% 261 27.6% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 PJA2 9867 genome.wustl.edu 37 5 108673058 108673058 + Splice_Site SNP C C A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_014819.4 -1 validated e9-1 1.000 124 0% 97 20.6% 1 100% - - - - ODZ2 57451 genome.wustl.edu 37 5 167420045 167420045 + Silent SNP G G A rs146310303 by1000genomes TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001122679.1 +1 inferred p.P348 0.128 170 0% 90 37.8% 0 - - - - HMMPfam_Ten_N EYS 346007 genome.wustl.edu 37 6 65612114 65612114 + Splice_Site SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001142800.1 -1 reviewed e15-1 0.001 211 0.5% 134 23.9% 0 - - - - - ARG1 383 genome.wustl.edu 37 6 131902519 131902519 + Splice_Site SNP G G T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_000045.2 +1 reviewed e4+1 1.000 112 0% 91 34.1% 0 - - - - - NMBR 4829 genome.wustl.edu 37 6 142409501 142409501 + Missense_Mutation SNP C C G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_002511.2 -1 validated p.V99L 1.000 78 0% 48 37.5% 0 - possibly_damaging(0.678) tolerated(0.46) neutral(0.254) HMMPfam_7tm_1,superfamily_SSF81321 NMBR 4829 genome.wustl.edu 37 6 142409502 142409502 + Silent SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_002511.2 -1 validated p.P98 0.106 80 0% 49 38.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GLI3 2737 genome.wustl.edu 37 7 42004888 42004888 + Missense_Mutation SNP C C A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_000168.5 -1 reviewed p.Q1261H 0.995 57 0% 43 25.6% 0 - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL ABCB4 5244 genome.wustl.edu 37 7 87031487 87031487 + Silent SNP C C A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 ENST00000440025 -1 known p.A67S 0.001 304 0% 214 34.1% 5 40% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SPAM1 6677 genome.wustl.edu 37 7 123599919 123599919 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_003117.4 +1 reviewed p.E476* 0.000 448 0% 318 24.8% 0 - - - - NULL ODF1 4956 genome.wustl.edu 37 8 103564137 103564137 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_024410.3 +1 reviewed p.R61Q 0.517 452 0% 293 27% 0 - possibly_damaging(0.827) deleterious(0) deleterious(0.758) NULL TRIB1 10221 genome.wustl.edu 37 8 126448250 126448250 + Frame_Shift_Del DEL C C - novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_025195.2 +1 validated p.Q220fs 1.000 - - - - - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LINGO2 158038 genome.wustl.edu 37 9 27948937 27948937 + Missense_Mutation SNP T T C novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_152570.1 -1 provisional p.D578G 1.000 262 0% 183 31.7% 1 100% benign(0.424) tolerated(0.11) neutral(0.409) NULL LCN12 286256 genome.wustl.edu 37 9 139848222 139848222 + Missense_Mutation SNP C C G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_178536.3 +1 validated p.H108D 0.000 60 0% 41 24.4% 8 87.5% unknown(0) tolerated(0.26) - HMMPfam_Lipocalin,superfamily_Lipocalins PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 ENST00000371953 +1 known p.R233* 0.984 280 0% 210 30% 43 11.6% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89725047 89725047 + Frame_Shift_Del DEL A A - novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 ENST00000371953 +1 known p.K344fs 1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 EML3 256364 genome.wustl.edu 37 11 62378369 62378369 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_153265.2 -1 validated p.R183Q 0.987 55 0% 37 16.2% 17 23.5% benign(0.117) tolerated(0.3) neutral(0.038) NULL FERMT3 83706 genome.wustl.edu 37 11 63987111 63987111 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_178443.2 +1 reviewed p.S337L 0.065 58 0% 62 45.2% 11 0% probably_damaging(0.954) tolerated(0.16) neutral(0.457) HMMPfam_FERM_M,HMMSmart_SM00295 MRE11A 4361 genome.wustl.edu 37 11 94203801 94203801 + Missense_Mutation SNP C C A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_005591.3 -1 reviewed p.G285C 1.000 267 0% 195 15.4% 9 11.1% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Mre11_DNA_bind,superfamily_Metallo-dependent phosphatases CADM1 23705 genome.wustl.edu 37 11 115047265 115047265 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_014333.3 -1 validated p.A420T 1.000 733 0% 561 15% 216 13.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRMT8 56341 genome.wustl.edu 37 12 3701431 3701431 + Silent SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_019854.3 +1 validated p.T338 0.047 582 0% 381 26% 16 37.5% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases AGAP2 116986 genome.wustl.edu 37 12 58121236 58121236 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001122772.1 -1 validated p.T996I 1.000 90 0% 38 23.7% 12 8.3% benign(0.024) tolerated(0.47) neutral(0.012) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain FAM123A 219287 genome.wustl.edu 37 13 25744273 25744273 + Silent SNP C C G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_152704.2 -1 validated p.R495 0.218 39 0% 31 32.3% 0 - - - - HMMPfam_WTX LOC643677 643677 genome.wustl.edu 37 13 103386645 103386645 + Missense_Mutation SNP G G T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 XM_002344085.1 -1 model p.P5316T 0.012 364 0% 240 26.3% 0 - benign(0.005) - - NULL MAPK1IP1L 93487 genome.wustl.edu 37 14 55529546 55529546 + Missense_Mutation SNP C C A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_144578.3 +1 validated p.P77T 1.000 119 0% 62 38.7% 80 48.7% probably_damaging(0.974) tolerated(0.05) deleterious(0.761) NULL STARD9 57519 genome.wustl.edu 37 15 42978613 42978613 + Missense_Mutation SNP G G C novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 XM_001129482.3 +1 model p.A1527P 0.000 172 0% 103 23.3% 0 - benign(0.039) - - NULL TMC5 79838 genome.wustl.edu 37 16 19498557 19498557 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001105248.1 +1 validated p.R828W 1.000 205 0.5% 145 31% 37 37.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TMC RPGRIP1L 23322 genome.wustl.edu 37 16 53706901 53706901 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_015272.2 -1 reviewed p.D304N 1.000 259 0% 140 32.9% 4 25% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL SNTB2 6645 genome.wustl.edu 37 16 69333597 69333597 + Missense_Mutation SNP C C G novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_006750.3 +1 reviewed p.P484A 1.000 254 0% 171 36.3% 4 25% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL FBXO39 162517 genome.wustl.edu 37 17 6683277 6683277 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_153230.2 +1 validated p.W30* 1.000 282 0% 192 31.2% 0 - - - - HMMPfam_F-box,HMMSmart_FBOX JMJD6 23210 genome.wustl.edu 37 17 74720071 74720071 + Missense_Mutation SNP C C A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001081461.1 -1 reviewed p.W196C 1.000 284 0% 164 28% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like LAMA3 3909 genome.wustl.edu 37 18 21534477 21534477 + Silent SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_198129.1 +1 reviewed p.T3289 0.001 227 0% 129 25.6% 64 14% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ELAVL1 1994 genome.wustl.edu 37 19 8032470 8032470 + Missense_Mutation SNP T T C novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_001419.2 -1 reviewed p.H212R 0.995 164 0% 119 39.5% 137 40.8% benign(0.01) tolerated(0.22) neutral(0.043) superfamily_RNA-binding domain RBD CYP4F22 126410 genome.wustl.edu 37 19 15636269 15636269 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_173483.3 +1 reviewed p.R41Q 0.000 175 0% 100 32% 0 - benign(0) tolerated(0.35) neutral(0.021) NULL NUMBL 9253 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - rs141662737 byCluster;by1000genomes TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_004756.3 -1 validated p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 - - - - - - - - - NULL CTSA 5476 genome.wustl.edu 37 20 44520238 44520240 + In_Frame_Del DEL CTG CTG - rs11467527 byCluster;by1000genomes TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_000308.2 +1 reviewed p.L32in_frame_del 0.155:0.311:0.361 - - - - - - - - - NULL APP 351 genome.wustl.edu 37 21 27372430 27372430 + Silent SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 ENST00000448850 -1 known p.D233N 1.000 146 0% 70 18.6% 651 24.8% - - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like ZNF280B 140883 genome.wustl.edu 37 22 22842630 22842630 + Missense_Mutation SNP A A C novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_080764.2 -1 reviewed p.V365G 0.978 448 0% 308 32.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_RING/U-box DMD 1756 genome.wustl.edu 37 X 31792189 31792189 + Missense_Mutation SNP C C T novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_004006.2 -1 reviewed p.R2477Q 0.994 348 0% 215 43.7% 0 - benign(0.208) tolerated(0.14) neutral(0.270) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat HUWE1 10075 genome.wustl.edu 37 X 53574861 53574861 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_031407.4 -1 reviewed p.S3470L 0.990 508 0.2% 408 31.6% 73 54.7% benign(0.043) tolerated(0.36) neutral(0.022) NULL LOC100288033 100288033 genome.wustl.edu 37 X 70887854 70887854 + Silent SNP C C T rs184717278 by1000genomes TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 XM_002343818.1 +1 model p.F67 0.000 265 0% 159 27.7% 0 - - - - NULL MAGEE1 57692 genome.wustl.edu 37 X 75648566 75648566 + Silent SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_020932.2 +1 reviewed p.P81 0.250 54 0% 24 29.2% 1 0% - - - NULL FMR1 2332 genome.wustl.edu 37 X 147018097 147018097 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_002024.5 +1 reviewed p.E319K 1.000 797 0.1% 579 32.5% 12 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) GPR50 9248 genome.wustl.edu 37 X 150349035 150349035 + Missense_Mutation SNP G G A novel TCGA-D1-A16B-01A-11D-A12J-09 TCGA-D1-A16B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e2acab1-7fe9-4444-935b-3a08b75f70cf 99aad580-64ab-467e-a249-4ed2fda80491 NM_004224.3 +1 reviewed p.R327H 0.024 138 0% 84 29.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL