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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error REG4 83998 genome.wustl.edu 36 1 120138772 120138772 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 120138772 120138772 G A SNP REG4 NM_032044 human genbank 54_36p -1 validated nonsense c.469 p.R157* 0.02 NULL HMMPfam_Lectin_C;superfamily_C-type lectin-like - no_errors BCL9 607 genome.wustl.edu 36 1 145559255 145559255 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 145559255 145559255 G T SNP BCL9 NM_004326 human genbank 54_36p 1 reviewed silent c.2670 p.S890 0.97 NULL - - no_errors RFX5 5993 genome.wustl.edu 36 1 149581309 149581309 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 149581309 149581309 C T SNP RFX5 NM_000449 human genbank 54_36p -1 reviewed missense c.1828 p.D610N 1 NULL - - no_errors NPR1 4881 genome.wustl.edu 36 1 151926302 151926302 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 151926302 151926302 C A SNP NPR1 NM_000906 human genbank 54_36p 1 validated silent c.1938 p.G646 0.76 HMMPfam_Pkinase_Tyr HMMPfam_Guanylate_cyc;HMMPfam_Pkinase_Tyr;HMMPfam_ANF_receptor;superfamily_Protein kinase-like (PK-like);superfamily_Periplasmic binding protein-like I;superfamily_Adenylyl and guanylyl cyclase catalytic domain - no_errors NTRK1 4914 genome.wustl.edu 36 1 155115634 155115634 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 155115634 155115634 C T SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed silent c.1902 p.V634 0.99 HMMPfam_Pkinase_Tyr Pkinase_Tyr;HMMPfam_Pkinase_Tyr;LRR_1;HMMPfam_LRR_1 - no_errors KIRREL 55243 genome.wustl.edu 36 1 156327870 156327870 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 156327870 156327870 C T SNP KIRREL NM_018240 human genbank 54_36p 1 validated silent c.879 p.T293 1 NULL - - no_errors CD1B 910 genome.wustl.edu 36 1 156565786 156565786 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 156565786 156565786 C A SNP CD1B NM_001764 human genbank 54_36p -1 reviewed missense c.884 p.W295L 0.99 NULL HMMPfam_C1-set;superfamily_MHC antigen-recognition domain;superfamily_Immunoglobulin - no_errors TEDDM1 127670 genome.wustl.edu 36 1 180635977 180635977 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 180635977 180635977 C G SNP TEDDM1 NM_172000 human genbank 54_36p -1 validated missense c.267 p.K89N 0.06 NULL - - no_errors TAS1R2 80834 genome.wustl.edu 36 1 19039080 19039080 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 19039080 19039080 C T SNP TAS1R2 NM_152232 human genbank 54_36p -1 validated missense c.2120 p.R707H NULL - - no_errors NR5A2 2494 genome.wustl.edu 36 1 198356604 198356604 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 198356604 198356604 A C SNP NR5A2 NM_205860 human genbank 54_36p 1 validated missense c.1276 p.N426H 1 HMMPfam_Hormone_recep superfamily_Nuclear receptor ligand-binding domain;superfamily_Glucocorticoid receptor-like (DNA-binding domain);HMMPfam_Hormone_recep;HMMPfam_zf-C4 - no_errors NBL1 4681 genome.wustl.edu 36 1 19854446 19854446 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 19854446 19854446 C T SNP NBL1 NM_182744 human genbank 54_36p 1 reviewed silent c.318 p.T106 1 NULL - - no_errors CACNA1S 779 genome.wustl.edu 36 1 199327481 199327481 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 199327481 199327481 G A SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed silent c.604 p.L202 1 HMMPfam_Ion_trans HMMPfam_Ion_trans;HMMPfam_Ca_chan_IQ;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors RYR2 6262 genome.wustl.edu 36 1 236031821 236031821 + Silent SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 236031821 236031821 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed silent c.14133 p.G4711 1 NULL HMMPfam_RYDR_ITPR;HMMPfam_efhand;HMMPfam_RyR;HMMPfam_MIR;HMMPfam_SPRY;HMMPfam_Ion_trans;HMMPfam_RR_TM4-6;HMMPfam_RIH_assoc;HMMPfam_Ins145_P3_rec;superfamily_EF-hand;superfamily_MIR domain (Pfam 02815) - no_errors ADSS 159 genome.wustl.edu 36 1 242653964 242653964 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 242653964 242653964 G T SNP ADSS NM_001126 human genbank 54_36p -1 reviewed silent c.495 p.G165 0.85 HMMPfam_Adenylsucc_synt HMMPfam_Adenylsucc_synt;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors RPA2 6118 genome.wustl.edu 36 1 28113723 28113723 + Splice_Site SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 28113723 28113723 A C SNP RPA2 ENST00000373909 human ensembl 54_36p -1 known splice_site c.34+2 e1+2 - - - no_errors PTCH2 8643 genome.wustl.edu 36 1 45070287 45070287 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 45070287 45070287 T A SNP PTCH2 NM_003738 human genbank 54_36p -1 validated nonsense c.472 p.K158* 1 HMMPfam_Patched Patched;HMMPfam_Patched - no_errors MAST2 23139 genome.wustl.edu 36 1 46264028 46264028 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 46264028 46264028 T A SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.1873 p.Y625N 1 NULL - - no_errors LRRIQ3 127255 genome.wustl.edu 36 1 74279558 74279558 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 74279558 74279558 T A SNP LRRIQ3 NM_001105659 human genbank 54_36p -1 inferred missense c.1645 p.S549C 0.02 NULL - - no_errors COL24A1 255631 genome.wustl.edu 36 1 86297400 86297400 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 86297400 86297400 C A SNP COL24A1 NM_152890 human genbank 54_36p -1 validated missense c.1798 p.G600C 1 NULL - - no_errors PARD3 56288 genome.wustl.edu 36 10 34660243 34660254 + In_Frame_Del DEL GACCCAGGGAAG GACCCAGGGAAG - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 GACCCAGGGAAG GACCCAGGGAAG GACCCAGGGAAG - GACCCAGGGAAG GACCCAGGGAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 10 34660243 34660254 GACCCAGGGAAG - DEL PARD3 NM_019619 human genbank 54_36p -1 provisional in_frame_del c.2650_2639 p.PSLG880in_frame_del 0.997:0.994:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.885:1.000 NULL HMMPfam_PDZ;superfamily_PDZ domain-like (deletion:cds_exon[34660051;34660278]) no_errors ANAPC16 119504 genome.wustl.edu 36 10 73653810 73653810 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 10 73653810 73653810 G C SNP C10orf104 NM_173473 human genbank 54_36p 1 validated missense c.132 p.E44D 1 NULL - - no_errors CADM1 23705 genome.wustl.edu 36 11 114554637 114554637 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 114554637 114554637 C A SNP CADM1 NM_014333 human genbank 54_36p -1 validated missense c.1147 p.V383L 1 NULL HMMPfam_V-set;HMMPfam_ig;HMMPfam_C2-set_2;superfamily_Immunoglobulin - no_errors SCN3B 55800 genome.wustl.edu 36 11 123014126 123014126 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 123014126 123014126 C T SNP SCN3B NM_001040151 human genbank 54_36p -1 reviewed missense c.562 p.E188K 0.99 NULL HMMPfam_V-set;superfamily_Immunoglobulin - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40092829 40092829 + Silent SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 40092829 40092829 A T SNP LRRC4C NM_020929 human genbank 54_36p -1 validated silent c.1590 p.I530 1 NULL HMMPfam_LRRNT;HMMPfam_LRR_1;HMMPfam_I-set;superfamily_Immunoglobulin;superfamily_L domain-like - no_errors OR5AK2 390181 genome.wustl.edu 36 11 56513893 56513893 + Nonstop_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 56513893 56513893 A C SNP OR5AK2 NM_001005323 human genbank 54_36p 1 provisional nonstop c.929 p.*310S NULL - - no_errors SYVN1 84447 genome.wustl.edu 36 11 64653850 64653850 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 64653850 64653850 G A SNP SYVN1 NM_172230 human genbank 54_36p -1 reviewed missense c.1522 p.R508C 1 NULL HMMPfam_zf-C3HC4;superfamily_RING/U-box - no_errors FCHSD2 9873 genome.wustl.edu 36 11 72231902 72231902 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 72231902 72231902 C T SNP FCHSD2 NM_014824 human genbank 54_36p -1 validated silent c.1479 p.T493 0.81 NULL - - no_errors OLFML1 283298 genome.wustl.edu 36 11 7466209 7466209 + Silent SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 7466209 7466209 T A SNP OLFML1 NM_198474 human genbank 54_36p 1 provisional silent c.405 p.T135 0.29 NULL - - no_errors CEP57 9702 genome.wustl.edu 36 11 95203847 95203847 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 95203847 95203847 C A SNP CEP57 NM_014679 human genbank 54_36p 1 validated missense c.1282 p.Q428K 0.99 HMMPfam_DUF1167 HMMPfam_DUF1167;superfamily_Spectrin repeat - no_errors TCP11L2 255394 genome.wustl.edu 36 12 105239497 105239497 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 105239497 105239497 T C SNP TCP11L2 NM_152772 human genbank 54_36p 1 provisional missense c.518 p.V173A 0.97 NULL - - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128132509 128132509 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 128132509 128132509 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.1671 p.E557 0.99 NULL - - no_errors GPR133 283383 genome.wustl.edu 36 12 130053283 130053283 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 130053283 130053283 C T SNP GPR133 ENST00000376682 human ensembl 54_36p 1 known missense c.32 p.P11L 0 NULL - - no_errors ITPR2 3709 genome.wustl.edu 36 12 26455589 26455589 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 26455589 26455589 T A SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.7330 p.T2444S 0.6 NULL - - no_errors KIF21A 55605 genome.wustl.edu 36 12 37989745 37989745 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 37989745 37989745 C T SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.4148 p.C1383Y 0.95 NULL - - no_errors SRSF2IP 9169 genome.wustl.edu 36 12 44607946 44607946 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 44607946 44607946 G C SNP SFRS2IP NM_004719 human genbank 54_36p -1 validated missense c.1805 p.T602R 0.03 NULL - - no_errors IKZF4 64375 genome.wustl.edu 36 12 54714800 54714800 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 54714800 54714800 C G SNP IKZF4 NM_022465 human genbank 54_36p 1 validated missense c.1176 p.I392M 1 NULL - - no_errors WNK1 65125 genome.wustl.edu 36 12 859035 859035 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 859035 859035 C A SNP WNK1 NM_018979 human genbank 54_36p 1 validated silent c.2409 p.G803 1 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors HAL 3034 genome.wustl.edu 36 12 94894533 94894533 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 12 94894533 94894533 G A SNP HAL NM_002108 human genbank 54_36p -1 reviewed silent c.1737 p.V579 1 HMMPfam_PAL HMMPfam_PAL;superfamily_L-aspartase-like - no_errors SLC10A2 6555 genome.wustl.edu 36 13 102516248 102516248 + Nonsense_Mutation SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 13 102516248 102516248 C T SNP SLC10A2 NM_000452 human genbank 54_36p -1 validated nonsense c.353 p.W118* 1 HMMPfam_SBF HMMPfam_SBF - no_errors FAM123A 219287 genome.wustl.edu 36 13 24641799 24641799 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 13 24641799 24641799 G T SNP FAM123A NM_152704 human genbank 54_36p -1 validated silent c.1959 p.G653 1 NULL - - no_errors DCLK1 9201 genome.wustl.edu 36 13 35282981 35282981 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 13 35282981 35282981 G A SNP DCLK1 NM_004734 human genbank 54_36p -1 validated missense c.1679 p.A560V 1 NULL HMMPfam_Pkinase;HMMPfam_DCX;superfamily_Protein kinase-like (PK-like);superfamily_Doublecortin (DC) - no_errors FLRT2 23768 genome.wustl.edu 36 14 85158757 85158757 + Silent SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 14 85158757 85158757 G A SNP FLRT2 NM_013231 human genbank 54_36p 1 reviewed silent c.1146 p.Q382 NULL HMMPfam_LRRNT;HMMPfam_LRRCT;HMMPfam_LRR_1;HMMPfam_fn3;superfamily_Fibronectin type III;superfamily_L domain-like - no_errors MAP1A 4130 genome.wustl.edu 36 15 41607649 41607649 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 15 41607649 41607649 C T SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed missense c.6686 p.S2229L 0.99 NULL - - no_errors FBN1 2200 genome.wustl.edu 36 15 46500294 46500294 + Silent SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 15 46500294 46500294 G A SNP FBN1 NM_000138 human genbank 54_36p -1 reviewed silent c.7701 p.D2567 1 HMMPfam_EGF_CA HMMPfam_TB;HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Growth factor receptor domain;HMMPfam_EGF_CA;HMMPfam_EGF_2;superfamily_EGF/Laminin;superfamily_TB module/8-cys domain - no_errors SCG3 29106 genome.wustl.edu 36 15 49761280 49761280 + Silent SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 15 49761280 49761280 G C SNP SCG3 NM_013243 human genbank 54_36p 1 reviewed silent c.36 p.V12 1 NULL - - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359091 50359091 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 15 50359091 50359091 C T SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.211 p.D71N 1 HMMPfam_Myosin_head HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_DIL;HMMPfam_Myosin_N;superfamily_Myosin S1 fragment N-terminal domain;superfamily_Hypothetical protein yfbM;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZSCAN10 84891 genome.wustl.edu 36 16 3082123 3082123 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 16 3082123 3082123 T C SNP ZSCAN10 NM_032805 human genbank 54_36p -1 provisional missense c.427 p.R143G 0 NULL - - no_errors PLCG2 5336 genome.wustl.edu 36 16 80528917 80528917 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 16 80528917 80528917 T G SNP PLCG2 NM_002661 human genbank 54_36p 1 validated missense c.3106 p.Y1036D 1 HMMPfam_PI-PLC-Y HMMPfam_C2;HMMPfam_PI-PLC-X;HMMPfam_SH2;HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_PI-PLC-Y;HMMPfam_PH;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_EF-hand;superfamily_PH domain-like;superfamily_PLC-like phosphodiesterases;superfamily_SH2 domain - no_errors C1orf226 400793 genome.wustl.edu 36 1 160619999 160619999 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 1 160619999 160619999 C G SNP C1orf226 NM_001085375 human genbank 54_36p 1 validated missense c.721 p.L241V 1 NULL - - no_errors MYH3 4621 genome.wustl.edu 36 17 10486588 10486588 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 17 10486588 10486588 C T SNP MYH3 NM_002470 human genbank 54_36p -1 reviewed missense c.1759 p.V587M 1 HMMPfam_Myosin_head HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Myosin_tail_1;HMMPfam_Myosin_N;superfamily_Prefoldin;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors HAP1 9001 genome.wustl.edu 36 17 37134774 37134774 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 17 37134774 37134774 G C SNP HAP1 NM_177977 human genbank 54_36p -1 reviewed missense c.1565 p.A522G NULL - - no_errors PELP1 27043 genome.wustl.edu 36 17 4524656 4524656 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 17 4524656 4524656 G T SNP PELP1 NM_014389 human genbank 54_36p -1 validated missense c.1480 p.P494T 1 NULL HMMPfam_NUC201;HMMPfam_NUC202;superfamily_ARM repeat;superfamily_beta-sandwich domain of Sec23/24 - no_errors TP53 7157 genome.wustl.edu 36 17 7514759 7514759 + Splice_Site SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 17 7514759 7514759 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.994-1 e9-1 1 - - - no_errors NOL4 8715 genome.wustl.edu 36 18 29939023 29939023 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 18 29939023 29939023 T G SNP NOL4 NM_003787 human genbank 54_36p -1 validated missense c.514 p.T172P 1 NULL - - no_errors NCAN 1463 genome.wustl.edu 36 19 19210115 19210115 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 19210115 19210115 T A SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.3304 p.Y1102N 0.97 NULL HMMPfam_Sushi;HMMPfam_Xlink;HMMPfam_Lectin_C;HMMPfam_EGF;superfamily_Immunoglobulin;superfamily_C-type lectin-like;superfamily_EGF/Laminin;superfamily_Complement control module/SCR domain - no_errors NPHS1 4868 genome.wustl.edu 36 19 41025292 41025292 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 41025292 41025292 C A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated nonsense c.2335 p.G779* 0.75 NULL HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;HMMPfam_V-set;HMMPfam_ig;HMMPfam_C2-set_2;superfamily_Immunoglobulin - no_errors ZNF527 84503 genome.wustl.edu 36 19 42571282 42571289 + Frame_Shift_Del DEL AATTTAGT AATTTAGT - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 AATTTAGT AATTTAGT AATTTAGT - AATTTAGT AATTTAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 42571282 42571289 AATTTAGT - DEL ZNF527 NM_032453 human genbank 54_36p 1 validated frame_shift_del c.491_498 p.S166fs 0.016:0.011:0.015:0.000:0.000:0.000:0.000:0.000 NULL - (deletion:cds_exon[42571048;42572621]) no_errors HNRNPL 3191 genome.wustl.edu 36 19 44029855 44029855 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 44029855 44029855 C A SNP HNRNPL NM_001533 human genbank 54_36p -1 reviewed silent c.327 p.L109 1 NULL HMMPfam_RRM_1;superfamily_RNA-binding domain RBD - no_errors CEACAM7 1087 genome.wustl.edu 36 19 46882638 46882638 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 46882638 46882638 T C SNP CEACAM7 NM_006890 human genbank 54_36p -1 provisional missense c.419 p.Y140C 0 NULL - - no_errors GRIK5 2901 genome.wustl.edu 36 19 47261337 47261337 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 47261337 47261337 C T SNP GRIK5 NM_002088 human genbank 54_36p -1 reviewed missense c.122 p.R41H 1 HMMPfam_ANF_receptor HMMPfam_Lig_chan;HMMPfam_ANF_receptor;superfamily_Periplasmic binding protein-like I;superfamily_Periplasmic binding protein-like II - no_errors FOSB 2354 genome.wustl.edu 36 19 50665942 50665942 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 50665942 50665942 T G SNP FOSB NM_006732 human genbank 54_36p 1 reviewed missense c.342 p.S114R 1 NULL superfamily_A DNA-binding domain in eukaryotic transcription factors;HMMPfam_bZIP_2 - no_errors C5AR1 728 genome.wustl.edu 36 19 52515843 52515843 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 52515843 52515843 G T SNP C5AR1 NM_001736 human genbank 54_36p 1 validated missense c.969 p.L323F 0.02 NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors INSR 3643 genome.wustl.edu 36 19 7068339 7068339 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 19 7068339 7068339 C A SNP INSR NM_000208 human genbank 54_36p -1 reviewed missense c.3877 p.D1293Y 1 NULL superfamily_Fibronectin type III;superfamily_Growth factor receptor domain;superfamily_Protein kinase-like (PK-like);superfamily_L domain-like;Recep_L_domain;HMMPfam_Recep_L_domain;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;fn3;HMMPfam_fn3;Furin-like;HMMPfam_Furin-like - no_errors NCKAP5 344148 genome.wustl.edu 36 2 133257909 133257909 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 2 133257909 133257909 A T SNP NAP5 NM_207363 human genbank 54_36p -1 validated missense c.2945 p.I982N 0.02 NULL - - no_errors RIF1 55183 genome.wustl.edu 36 2 152028237 152028237 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 2 152028237 152028237 A C SNP RIF1 NM_018151 human genbank 54_36p 1 validated missense c.3957 p.E1319D 0.48 NULL superfamily_ARM repeat - no_errors FRZB 2487 genome.wustl.edu 36 2 183411403 183411403 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 2 183411403 183411403 T C SNP FRZB NM_001463 human genbank 54_36p -1 validated missense c.776 p.Y259C 1 HMMPfam_NTR HMMPfam_Fz;HMMPfam_NTR;superfamily_TIMP-like;superfamily_Frizzled cysteine-rich domain - no_errors HECW2 57520 genome.wustl.edu 36 2 196892797 196892797 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 2 196892797 196892797 G A SNP HECW2 NM_020760 human genbank 54_36p -1 provisional silent c.1062 p.D354 0.99 NULL HMMPfam_C2;HMMPfam_HECT;HMMPfam_WW;superfamily_WW domain;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_Hect E3 ligase catalytic domain - no_errors HAAO 23498 genome.wustl.edu 36 2 42848133 42848133 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 2 42848133 42848133 G A SNP HAAO NM_012205 human genbank 54_36p -1 reviewed missense c.809 p.S270F 0.26 NULL HMMPfam_3-HAO;superfamily_RmlC-like cupins - no_errors KDM3A 55818 genome.wustl.edu 36 2 86562679 86562679 + Silent SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 2 86562679 86562679 C G SNP JMJD1A NM_018433 human genbank 54_36p 1 reviewed silent c.2628 p.P876 1 NULL HMMPfam_JmjC;superfamily_Clavaminate synthase-like;superfamily_Cysteine-rich domain - no_errors DEFB118 117285 genome.wustl.edu 36 20 29424617 29424617 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 20 29424617 29424617 G A SNP DEFB118 NM_054112 human genbank 54_36p 1 provisional missense c.355 p.V119I NULL - - no_errors NFS1 9054 genome.wustl.edu 36 20 33732160 33732160 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 20 33732160 33732160 G A SNP NFS1 NM_021100 human genbank 54_36p -1 reviewed nonsense c.703 p.Q235* 1 HMMPfam_Aminotran_5 HMMPfam_Aminotran_5;superfamily_PLP-dependent transferases - no_errors STAU1 6780 genome.wustl.edu 36 20 47173074 47173074 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 20 47173074 47173074 C G SNP STAU1 NM_017453 human genbank 54_36p -1 reviewed missense c.928 p.E310Q 0.99 NULL - - no_errors PAK7 57144 genome.wustl.edu 36 20 9509002 9509002 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 20 9509002 9509002 G A SNP PAK7 NM_020341 human genbank 54_36p -1 reviewed silent c.780 p.S260 1 NULL PBD;HMMPfam_PBD;Pkinase;HMMPfam_Pkinase - no_errors ITGB2 3689 genome.wustl.edu 36 21 45151408 45151408 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 21 45151408 45151408 T G SNP ITGB2 NM_000211 human genbank 54_36p -1 reviewed missense c.178 p.I60L HMMPfam_Integrin_beta superfamily_Integrin beta tail domain;Integrin_beta;HMMPfam_Integrin_beta;Integrin_B_tail;HMMPfam_Integrin_B_tail;EGF_2;HMMPfam_EGF_2;Integrin_b_cyt;HMMPfam_Integrin_b_cyt;vWA-like;superfamily_vWA-like;EGF/Laminin;superfamily_EGF/Laminin;Integrin domains;superfamily_Integrin domains;Integrin beta tail domain - no_errors IL2RB 3560 genome.wustl.edu 36 22 35854460 35854460 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 22 35854460 35854460 G T SNP IL2RB NM_000878 human genbank 54_36p -1 reviewed missense c.1278 p.D426E 0.5 NULL superfamily_Fibronectin type III - no_errors TOB2 10766 genome.wustl.edu 36 22 40162846 40162846 + Silent SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 22 40162846 40162846 C G SNP TOB2 NM_016272 human genbank 54_36p -1 validated silent c.450 p.L150 1 NULL HMMPfam_BTG;HMMPfam_PAM2 - no_errors SMC1B 27127 genome.wustl.edu 36 22 44168278 44168278 + Missense_Mutation SNP C A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 22 44168278 44168278 C A SNP SMC1B NM_148674 human genbank 54_36p -1 validated missense c.1445 p.S482I 0.99 HMMPfam_SMC_N HMMPfam_SMC_N;HMMPfam_SMC_hinge;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Smc hinge domain - no_errors ACPP 55 genome.wustl.edu 36 3 133558249 133558269 + In_Frame_Del DEL ATGAGACGCAGCACGAGCCGT ATGAGACGCAGCACGAGCCGT - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 ATGAGACGCAGCACGAGCCGT ATGAGACGCAGCACGAGCCGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 133558249 133558269 ATGAGACGCAGCACGAGCCGT - DEL ACPP NM_001099 human genbank 54_36p 1 reviewed in_frame_del c.998_1018 p.ETQHEPY334in_frame_del 0.994:0.951:0.952:0.942:0.840:0.749:0.683:0.000:0.001:0.000:0.001:0.000:0.001:0.001:0.023:0.021:0.012:0.021:0.016:0.000:0.000 NULL HMMPfam_Acid_phosphat_A;superfamily_Phosphoglycerate mutase-like (deletion:cds_exon[133558220;133558412]) no_errors PLD1 5337 genome.wustl.edu 36 3 172887213 172887213 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 172887213 172887213 T A SNP PLD1 NM_002662 human genbank 54_36p -1 validated missense c.1823 p.H608L 0.4 NULL HMMPfam_PX;HMMPfam_PLDc;HMMPfam_PH;superfamily_PH domain-like;superfamily_Phospholipase D/nuclease;superfamily_PX domain - no_errors RPL15 6138 genome.wustl.edu 36 3 23935904 23935904 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 23935904 23935904 G T SNP RPL15 NM_002948 human genbank 54_36p 1 reviewed nonsense c.523 p.G175* 1 NULL - - no_errors PLXNB1 5364 genome.wustl.edu 36 3 48425879 48425879 + Silent SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 48425879 48425879 C G SNP PLXNB1 NM_002673 human genbank 54_36p -1 validated silent c.5949 p.L1983 1 NULL - - no_errors USP19 10869 genome.wustl.edu 36 3 49123255 49123255 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 49123255 49123255 C A SNP USP19 NM_006677 human genbank 54_36p -1 provisional silent c.3282 p.L1094 1 NULL - - no_errors CACNA2D3 55799 genome.wustl.edu 36 3 54996819 54996819 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 54996819 54996819 A T SNP CACNA2D3 NM_018398 human genbank 54_36p 1 reviewed nonsense c.2689 p.R897* 1 NULL HMMPfam_VWA;HMMPfam_Cache_1;HMMPfam_VWA_N;superfamily_vWA-like - no_errors PDHB 5162 genome.wustl.edu 36 3 58389325 58389325 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 58389325 58389325 G A SNP PDHB NM_000925 human genbank 54_36p -1 validated silent c.849 p.V283 1 HMMPfam_Transketolase_C HMMPfam_Transket_pyr;HMMPfam_Transketolase_C;superfamily_TK C-terminal domain-like;superfamily_Thiamin diphosphate-binding fold (THDP-binding) - no_errors PDZRN3 23024 genome.wustl.edu 36 3 73516571 73516571 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 3 73516571 73516571 G A SNP PDZRN3 NM_015009 human genbank 54_36p -1 provisional silent c.1836 p.T612 1 NULL - - no_errors USP53 54532 genome.wustl.edu 36 4 120408927 120408927 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 4 120408927 120408927 G C SNP USP53 NM_019050 human genbank 54_36p 1 validated missense c.1192 p.D398H 0.77 NULL - - no_errors KIAA1109 84162 genome.wustl.edu 36 4 123487309 123487309 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 4 123487309 123487309 A G SNP KIAA1109 NM_015312 human genbank 54_36p 1 validated missense c.12815 p.Y4272C 1 NULL - - no_errors FAT4 79633 genome.wustl.edu 36 4 126628179 126628179 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 4 126628179 126628179 C T SNP FAT4 NM_024582 human genbank 54_36p 1 validated missense c.12875 p.P4292L 1 NULL - - no_errors FBXL5 26234 genome.wustl.edu 36 4 15237620 15237629 + Frame_Shift_Del DEL AGTCTGGGTA AGTCTGGGTA - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 AGTCTGGGTA AGTCTGGGTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 4 15237620 15237629 AGTCTGGGTA - DEL FBXL5 NM_012161 human genbank 54_36p -1 reviewed frame_shift_del c.1098_1089 p.Q365fs 0.998:1.000:1.000:0.998:1.000:1.000:0.998:1.000:1.000:0.991 HMMPfam_LRR_1 HMMPfam_LRR_1;HMMPfam_F-box;HMMPfam_LRR_2;superfamily_RNI-like;superfamily_F-box domain (deletion:cds_exon[15237594;15237676]) no_errors WNT8A 7478 genome.wustl.edu 36 5 137447842 137447842 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 5 137447842 137447842 G C SNP WNT8A NM_058244 human genbank 54_36p 1 reviewed missense c.73 p.V25L 1 HMMPfam_wnt HMMPfam_wnt - no_errors FAM53C 51307 genome.wustl.edu 36 5 137710460 137710460 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 5 137710460 137710460 G T SNP FAM53C NM_016605 human genbank 54_36p 1 validated silent c.1092 p.V364 0.99 NULL - - no_errors PCDHGA5 56110 genome.wustl.edu 36 5 140725975 140725975 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 5 140725975 140725975 C A SNP PCDHGA5 NM_018918 human genbank 54_36p 1 reviewed missense c.1894 p.L632M 0.18 NULL - - no_errors GABRG2 2566 genome.wustl.edu 36 5 161463609 161463609 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 5 161463609 161463609 C A SNP GABRG2 NM_198904 human genbank 54_36p 1 reviewed silent c.768 p.S256 0.99 HMMPfam_Neur_chan_LBD HMMPfam_Neur_chan_memb;HMMPfam_Neur_chan_LBD;superfamily_Nicotinic receptor ligand binding domain-like;superfamily_Neurotransmitter-gated ion-channel transmembrane pore - no_errors RUFY1 80230 genome.wustl.edu 36 5 178969029 178969029 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 5 178969029 178969029 G C SNP RUFY1 NM_025158 human genbank 54_36p 1 validated missense c.2030 p.S677T 1 NULL - - no_errors CDH18 1016 genome.wustl.edu 36 5 19874754 19874754 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 5 19874754 19874754 C T SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed silent c.99 p.V33 1 NULL HMMPfam_Cadherin_C;HMMPfam_Cadherin;superfamily_Cadherin-like - no_errors OR4A13P 81330 genome.wustl.edu 36 11 54991325 54991325 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 54991325 54991325 G T SNP OR4A13P ENST00000314689 human ensembl 54_36p 1 known missense c.218 p.G73V 0.01 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors HACE1 57531 genome.wustl.edu 36 6 105305031 105305031 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 105305031 105305031 C G SNP HACE1 NM_020771 human genbank 54_36p -1 validated missense c.2221 p.V741L 1 NULL - - no_errors LAMA4 3910 genome.wustl.edu 36 6 112550011 112550011 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 112550011 112550011 G A SNP LAMA4 NM_001105206 human genbank 54_36p -1 reviewed silent c.4374 p.H1458 1 NULL - - no_errors MAP3K5 4217 genome.wustl.edu 36 6 137061319 137061319 + Splice_Site SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 137061319 137061319 C G SNP MAP3K5 NM_005923 human genbank 54_36p -1 reviewed splice_site c.806+1 e4+1 1 - - - no_errors SYNE1 23345 genome.wustl.edu 36 6 152725072 152725072 + Nonsense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 152725072 152725072 C A SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed nonsense c.10225 p.E3409* 1 NULL superfamily_Spectrin repeat;superfamily_Calponin-homology domain CH-domain;superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain;HMMPfam_CH;HMMPfam_Spectrin - no_errors PPP1R11 6992 genome.wustl.edu 36 6 30144886 30144886 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 30144886 30144886 G T SNP PPP1R11 NM_021959 human genbank 54_36p 1 reviewed missense c.205 p.A69S 1 HMMPfam_PPI_Ypi1 HMMPfam_PPI_Ypi1 - no_errors VARS 7407 genome.wustl.edu 36 6 31854754 31854754 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 31854754 31854754 G A SNP VARS NM_006295 human genbank 54_36p -1 reviewed missense c.3695 p.P1232L 0.99 NULL HMMPfam_tRNA-synt_1;HMMPfam_GST_N;HMMPfam_GST_C;superfamily_ValRS/IleRS/LeuRS editing domain;superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases;superfamily_tRNA-binding arm;superfamily_Glutathione S-transferase (GST) C-terminal domain;HMMPfam_Anticodon_1;superfamily_Nucleotidylyl transferase - no_errors BRD2 6046 genome.wustl.edu 36 6 33053885 33053885 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 33053885 33053885 G C SNP BRD2 NM_005104 human genbank 54_36p 1 reviewed missense c.1583 p.R528P 0.74 NULL HMMPfam_Bromodomain;superfamily_Bromodomain - no_errors PKHD1 5314 genome.wustl.edu 36 6 51591933 51591933 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 6 51591933 51591933 A C SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.12130 p.L4044V NULL HMMPfam_TIG;superfamily_Pectin lyase-like;superfamily_E set domains;superfamily_Anthrax protective antigen - no_errors OR52L2P 79274 genome.wustl.edu 36 11 6035139 6035139 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 11 6035139 6035139 G A SNP OR52L2P ENST00000316540 human ensembl 54_36p -1 known nonsense c.943 p.Q315* 0.01 NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121438335 121438335 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 7 121438335 121438335 G T SNP PTPRZ1 NM_002851 human genbank 54_36p 1 reviewed nonsense c.1999 p.G667* NULL superfamily_Carbonic anhydrase;HMMPfam_fn3;superfamily_Fibronectin type III;superfamily_(Phosphotyrosine protein) phosphatases II;HMMPfam_Y_phosphatase;HMMPfam_Carb_anhydrase - no_errors AMPH 273 genome.wustl.edu 36 7 38395993 38395993 + Silent SNP A A G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 7 38395993 38395993 A G SNP AMPH NM_001635 human genbank 54_36p -1 reviewed silent c.1917 p.D639 1 HMMPfam_SH3_1 HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_BAR - no_errors VSTM2A 222008 genome.wustl.edu 36 7 54585204 54585204 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 7 54585204 54585204 G A SNP VSTM2A NM_182546 human genbank 54_36p 1 validated missense c.481 p.E161K 1 NULL - - no_errors PMS2CL 5395 genome.wustl.edu 36 7 6743617 6743617 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 7 6743617 6743617 C A SNP PMS2CL ENST00000338780 human ensembl 54_36p 1 known missense c.372 p.D124E 0.03 NULL - - no_errors RSPO2 340419 genome.wustl.edu 36 8 109070506 109070506 + Silent SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 8 109070506 109070506 T A SNP RSPO2 NM_178565 human genbank 54_36p -1 validated silent c.237 p.P79 0.99 NULL superfamily_Growth factor receptor domain;superfamily_TSP-1 type 1 repeat - no_errors MSR1 4481 genome.wustl.edu 36 8 16012099 16012099 + Splice_Site SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 8 16012099 16012099 C T SNP MSR1 NM_138715 human genbank 54_36p -1 reviewed splice_site c.1223-1 e9-1 1 - - - no_errors FUT10 84750 genome.wustl.edu 36 8 33366290 33366290 + Silent SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 8 33366290 33366290 A C SNP FUT10 NM_032664 human genbank 54_36p -1 validated silent c.945 p.L315 1 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 - no_errors STAR 6770 genome.wustl.edu 36 8 38125411 38125411 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 8 38125411 38125411 A T SNP STAR NM_000349 human genbank 54_36p -1 reviewed missense c.83 p.V28E 0 NULL HMMPfam_START;superfamily_Bet v1-like - no_errors RB1CC1 9821 genome.wustl.edu 36 8 53717642 53717642 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 8 53717642 53717642 C A SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated nonsense c.4159 p.E1387* 1 NULL superfamily_Prefoldin;superfamily_Ubiquitin-like - no_errors TMEM67 91147 genome.wustl.edu 36 8 94878859 94878859 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 8 94878859 94878859 C T SNP TMEM67 NM_153704 human genbank 54_36p 1 reviewed silent c.2055 p.V685 0.92 NULL - - no_errors TMEM38B 55151 genome.wustl.edu 36 9 107507714 107507714 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 9 107507714 107507714 C A SNP TMEM38B NM_018112 human genbank 54_36p 1 provisional missense c.128 p.A43E 0.19 NULL - - no_errors TNFSF8 944 genome.wustl.edu 36 9 116706094 116706094 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 9 116706094 116706094 C T SNP TNFSF8 NM_001244 human genbank 54_36p -1 reviewed missense c.643 p.D215N 1 HMMPfam_TNF HMMPfam_TNF;superfamily_TNF-like - no_errors APTX 54840 genome.wustl.edu 36 9 32979805 32979805 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 9 32979805 32979805 G A SNP APTX NM_175073 human genbank 54_36p -1 reviewed missense c.85 p.R29C 1 NULL HMMPfam_HIT;superfamily_SMAD/FHA domain;superfamily_HIT-like - no_errors NAA35 60560 genome.wustl.edu 36 9 87746931 87746931 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 9 87746931 87746931 G - DEL MAK10 NM_024635 human genbank 54_36p 1 validated frame_shift_del c.37 p.G13fs 1 NULL - (deletion:cds_exon[87746895;87747018]) no_errors GPRASP2 114928 genome.wustl.edu 36 X 101857976 101857976 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 X 101857976 101857976 T G SNP GPRASP2 NM_001004051 human genbank 54_36p 1 validated missense c.1523 p.F508C 0.96 NULL HMMPfam_DUF634;superfamily_ARM repeat - no_errors ODZ1 10178 genome.wustl.edu 36 X 123458777 123458777 + Missense_Mutation SNP A T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 X 123458777 123458777 A T SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.3465 p.N1155K 1 NULL HMMPfam_NHL;HMMPfam_EGF;HMMPfam_RHS_repeat;superfamily_Carboxypeptidase regulatory domain;HMMPfam_Ten_N;superfamily_Nitrous oxide reductase N-terminal domain;HMMPfam_EGF_2;superfamily_NHL repeat;superfamily_EGF/Laminin - no_errors USP11 8237 genome.wustl.edu 36 X 46986479 46986479 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 X 46986479 46986479 G A SNP USP11 NM_004651 human genbank 54_36p 1 reviewed missense c.1363 p.V455M 1 NULL - - no_errors BMP15 9210 genome.wustl.edu 36 X 50676045 50676045 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b00d9680-4099-43fe-87de-b3cc8b9e70c8 30b2b852-217f-459e-bac0-5e2df47fded7 X 50676045 50676045 C A SNP BMP15 NM_005448 human genbank 54_36p 1 reviewed missense c.877 p.L293I 0.37 HMMPfam_TGF_beta HMMPfam_TGF_beta;superfamily_Cystine-knot cytokines - no_errors