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 MIIP 60672 genome.wustl.edu 36 1 12012533 12012533 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 12012533 12012533 C T SNP IIP45 NM_021933 human genbank 54_36p 1 validated silent c.840 p.H280 0.32 NULL - - no_errors SV2A 9900 genome.wustl.edu 36 1 148147730 148147730 + Silent SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 148147730 148147730 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.1197 p.T399 0.01 NULL - - no_errors SETDB1 9869 genome.wustl.edu 36 1 149188556 149188556 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 149188556 149188556 C G SNP SETDB1 NM_012432 human genbank 54_36p 1 reviewed missense c.1511 p.S504C 1 NULL HMMPfam_SET;HMMPfam_MBD;HMMPfam_Pre-SET;superfamily_DNA-binding domain;superfamily_Tudor/PWWP/MBT;superfamily_SET domain - no_errors SCNM1 79005 genome.wustl.edu 36 1 149407395 149407395 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 149407395 149407395 C A SNP SCNM1 NM_024041 human genbank 54_36p 1 validated missense c.550 p.P184T 0.97 NULL - - no_errors FLG2 388698 genome.wustl.edu 36 1 150591310 150591310 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 150591310 150591310 T G SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.5576 p.Q1859P 0 NULL - - no_errors DENND4B 9909 genome.wustl.edu 36 1 152169831 152169831 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 152169831 152169831 T A SNP DENND4B NM_014856 human genbank 54_36p -1 validated missense c.4241 p.E1414V 0.998 NULL - - no_errors HHAT 55733 genome.wustl.edu 36 1 208753155 208753155 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 208753155 208753155 G A SNP HHAT NM_018194 human genbank 54_36p 1 validated missense c.1043 p.R348K 1 NULL - - no_errors USH2A 7399 genome.wustl.edu 36 1 214039056 214039056 + Silent SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 214039056 214039056 C A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed silent c.9774 p.R3258 0.98 NULL - - no_errors WNT4 54361 genome.wustl.edu 36 1 22320651 22320651 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 22320651 22320651 G A SNP WNT4 NM_030761 human genbank 54_36p -1 reviewed missense c.319 p.R107W 1 HMMPfam_wnt HMMPfam_wnt - no_errors OBSCN 84033 genome.wustl.edu 36 1 226511219 226511219 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 226511219 226511219 C G SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.4554 p.S1518R 0.921 NULL - - no_errors RYR2 6262 genome.wustl.edu 36 1 235844285 235844285 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 235844285 235844285 A C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5234 p.K1745T 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 OR2C3 81472 genome.wustl.edu 36 1 245761802 245761802 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 245761802 245761802 A C SNP OR2C3 NM_198074 human genbank 54_36p -1 validated missense c.632 p.L211R 0.12 NULL - - no_errors ZMYM6 9204 genome.wustl.edu 36 1 35247025 35247025 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 35247025 35247025 T C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated missense c.1580 p.N527S 0.99 NULL - - no_errors MACF1 23499 genome.wustl.edu 36 1 39677659 39677659 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 39677659 39677659 C G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.13676 p.A4559G 1 NULL - - no_errors YBX1 4904 genome.wustl.edu 36 1 42934991 42934991 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 42934991 42934991 C G SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.446 p.P149R 1 NULL HMMPfam_CSD;superfamily_Nucleic acid-binding proteins - no_errors YBX1 4904 genome.wustl.edu 36 1 42939246 42939246 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 42939246 42939246 C T SNP YBX1 NM_004559 human genbank 54_36p 1 validated silent c.948 p.P316 1 NULL HMMPfam_CSD;superfamily_Nucleic acid-binding proteins - no_errors ABCA4 24 genome.wustl.edu 36 1 94321512 94321512 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 94321512 94321512 G A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.842 p.S281L 1 NULL HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors DPYD 1806 genome.wustl.edu 36 1 97787702 97787702 + Splice_Site SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 1 97787702 97787702 A T SNP DPYD NM_000110 human genbank 54_36p -1 reviewed splice_site c.1524+2 e12+2 1 - - - no_errors LOC653665 653665 genome.wustl.edu 36 10 29228313 29228313 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 10 29228313 29228313 T C SNP LOC653665 XM_001723025 human genbank 54_36p -1 model missense c.68 p.K23R 1 NULL - - pseudogene CCAR1 55749 genome.wustl.edu 36 10 70177005 70177005 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 10 70177005 70177005 G C SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.600 p.W200C 1 NULL HMMPfam_SAP;superfamily_EF-hand;superfamily_Nucleic acid-binding proteins;superfamily_SAP domain - no_errors RBM7 10179 genome.wustl.edu 36 11 113783439 113783439 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 11 113783439 113783439 A T SNP RBM7 NM_016090 human genbank 54_36p 1 provisional missense c.501 p.Q167H 0.13 NULL - - no_errors C11orf63 79864 genome.wustl.edu 36 11 122335312 122335312 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 11 122335312 122335312 C T SNP C11orf63 NM_024806 human genbank 54_36p 1 validated silent c.2286 p.H762 1 NULL - - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40094160 40094160 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 11 40094160 40094160 G C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated missense c.259 p.Q87E 1 HMMPfam_LRR_1 HMMPfam_LRRNT;HMMPfam_LRR_1;HMMPfam_I-set;superfamily_Immunoglobulin;superfamily_L domain-like - no_errors GLYATL2 219970 genome.wustl.edu 36 11 58361162 58361162 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 11 58361162 58361162 A T SNP GLYATL2 NM_145016 human genbank 54_36p -1 validated missense c.378 p.D126E NULL - - no_errors PLEKHB1 58473 genome.wustl.edu 36 11 73039304 73039304 + Silent SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 11 73039304 73039304 G T SNP PLEKHB1 NM_021200 human genbank 54_36p 1 validated silent c.153 p.L51 1 HMMPfam_PH HMMPfam_PH;superfamily_PH domain-like - no_errors GPR81 27198 genome.wustl.edu 36 12 121780477 121780477 + Silent SNP G A A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 12 121780477 121780477 G A SNP GPR81 NM_032554 human genbank 54_36p -1 validated silent c.363 p.H121 1 NULL - - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21250089 21250089 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 12 21250089 21250089 A T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.1352 p.H451L 0.01 NULL - - no_errors PARP11 57097 genome.wustl.edu 36 12 3791822 3791822 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 12 3791822 3791822 T C SNP PARP11 NM_020367 human genbank 54_36p -1 validated missense c.724 p.K242E 1 NULL - - no_errors ATF1 466 genome.wustl.edu 36 12 49489522 49489522 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 12 49489522 49489522 T A SNP ATF1 NM_005171 human genbank 54_36p 1 validated missense c.211 p.L71I 1 HMMPfam_pKID HMMPfam_pKID;HMMPfam_bZIP_1 - no_errors FAM19A2 338811 genome.wustl.edu 36 12 60435001 60435001 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 12 60435001 60435001 C G SNP FAM19A2 NM_178539 human genbank 54_36p -1 reviewed missense c.178 p.E60Q 1 NULL - - no_errors TPP2 7174 genome.wustl.edu 36 13 102078242 102078242 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 13 102078242 102078242 G C SNP TPP2 NM_003291 human genbank 54_36p 1 reviewed missense c.983 p.S328T 1 HMMPfam_Peptidase_S8 HMMPfam_Peptidase_S8;superfamily_Subtilisin-like - no_errors DNAJC3 5611 genome.wustl.edu 36 13 95193152 95193152 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 13 95193152 95193152 T A SNP DNAJC3 ENST00000360638 human ensembl 54_36p 1 known missense c.657 p.S219R NULL - - no_errors PPP2R5C 5527 genome.wustl.edu 36 14 101453935 101453935 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 14 101453935 101453935 T G SNP PPP2R5C NM_002719 human genbank 54_36p 1 reviewed missense c.1341 p.S447R 1 NULL HMMPfam_B56,superfamily_ARM repeat - no_errors CDCA4 55038 genome.wustl.edu 36 14 104549113 104549113 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 14 104549113 104549113 G A SNP CDCA4 NM_017955 human genbank 54_36p -1 reviewed missense c.199 p.R67W 0.999 HMMPfam_SERTA HMMPfam_SERTA - no_errors APEX1 328 genome.wustl.edu 36 14 19995128 19995128 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 14 19995128 19995128 G A SNP APEX1 NM_001641 human genbank 54_36p 1 reviewed missense c.578 p.R193H 1 HMMPfam_Exo_endo_phos HMMPfam_Exo_endo_phos;superfamily_DNase I-like - no_errors PTGDR 5729 genome.wustl.edu 36 14 51804674 51804674 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 14 51804674 51804674 G T SNP PTGDR NM_000953 human genbank 54_36p 1 reviewed missense c.392 p.W131L 1 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41476736 41476736 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 15 41476736 41476736 A C SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional missense c.1204 p.K402Q 1 NULL - - no_errors SHC4 399694 genome.wustl.edu 36 15 46914506 46914506 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 15 46914506 46914506 G T SNP SHC4 NM_203349 human genbank 54_36p -1 validated missense c.1489 p.P497T 1 NULL HMMPfam_SH2;HMMPfam_PID;superfamily_PH domain-like;superfamily_SH2 domain - no_errors TLN2 83660 genome.wustl.edu 36 15 60918107 60918107 + Splice_Site SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 15 60918107 60918107 G A SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed splice_site c.7375-1 e55-1 1 - - - no_errors ZNF592 9640 genome.wustl.edu 36 15 83143401 83143401 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 15 83143401 83143401 C T SNP ZNF592 NM_014630 human genbank 54_36p 1 validated silent c.3093 p.H1031 1 HMMPfam_zf-C2H2 superfamily_C2H2 and C2HC zinc fingers;HMMPfam_zf-C2H2;superfamily_Multiheme cytochromes - no_errors MYH4 4622 genome.wustl.edu 36 17 10303433 10303433 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 10303433 10303433 A C SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.1447 p.F483V 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 MYH1 4619 genome.wustl.edu 36 17 10349467 10349467 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 10349467 10349467 T A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.2261 p.D754V 0.98 HMMPfam_Myosin_head HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Myosin_tail_1;HMMPfam_Myosin_N;superfamily_Prefoldin;superfamily_tRNA-binding arm;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors PITPNA 5306 genome.wustl.edu 36 17 1388963 1388963 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 1388963 1388963 C T SNP PITPNA NM_006224 human genbank 54_36p -1 validated missense c.406 p.V136M 1 NULL - - no_errors WFIKKN2 124857 genome.wustl.edu 36 17 46272134 46272134 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 46272134 46272134 G C SNP WFIKKN2 NM_175575 human genbank 54_36p 1 reviewed missense c.486 p.E162D 1 HMMPfam_Kazal_2 HMMPfam_Kunitz_BPTI;superfamily_BPTI-like;HMMPfam_WAP;superfamily_Elafin-like;superfamily_TIMP-like;HMMPfam_Kazal_2;HMMPfam_I-set;superfamily_Kazal-type serine protease inhibitors;superfamily_Immunoglobulin - no_errors PPM1E 22843 genome.wustl.edu 36 17 54397884 54397885 + Missense_Mutation DNP GA GA AG novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GA GA GA AG GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 54397884 54397885 GA AG DNP PPM1E NM_014906 human genbank 54_36p 1 reviewed missense c.631_632 p.E211R 1.000:1.000 NULL HMMPfam_PP2C;superfamily_Protein serine/threonine phosphatase 2C catalytic domain - no_errors GPRC5C 55890 genome.wustl.edu 36 17 69947571 69947571 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 69947571 69947571 G A SNP GPRC5C NM_022036 human genbank 54_36p 1 reviewed missense c.196 p.A66T NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7519230 7519236 + Frame_Shift_Del DEL GGGCAGG GGGCAGG - novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GGGCAGG GGGCAGG GGGCAGG - GGGCAGG GGGCAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 7519230 7519236 GGGCAGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.425_419 p.T140fs 0.999:1.000:1.000:1.000:1.000:0.996:1.000 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD (deletion:cds_exon[7519096;7519279]) no_errors DNAH2 146754 genome.wustl.edu 36 17 7601149 7601149 + Silent SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 17 7601149 7601149 C G SNP DNAH2 NM_020877 human genbank 54_36p 1 validated silent c.1920 p.L640 1 HMMPfam_DHC_N1 HMMPfam_Dynein_heavy;HMMPfam_AAA_5;HMMPfam_DHC_N1;HMMPfam_DHC_N2;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LOC100131991 100131991 genome.wustl.edu 36 2 177382523 177382523 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 2 177382523 177382523 G C SNP LOC100131991 XM_001722203 human genbank 54_36p -1 model missense c.200 p.P67R 0.01 NULL - - pseudogene MC2R 4158 genome.wustl.edu 36 18 13874639 13874639 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 18 13874639 13874639 G A SNP MC2R NM_000529 human genbank 54_36p -1 reviewed silent c.879 p.C293 0.07 NULL - - no_errors LDLR 3949 genome.wustl.edu 36 19 11101342 11101342 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 19 11101342 11101342 C T SNP LDLR NM_000527 human genbank 54_36p 1 reviewed missense c.2543 p.P848L 1 NULL HMMPfam_Ldl_recept_b;HMMPfam_Ldl_recept_a;HMMPfam_EGF;HMMPfam_EGF_CA;superfamily_EGF/Laminin;superfamily_LDL receptor-like module;superfamily_YWTD domain - no_errors DDX39 10212 genome.wustl.edu 36 19 14382893 14382893 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 19 14382893 14382893 C T SNP DDX39 NM_005804 human genbank 54_36p -1 reviewed missense c.521 p.R174H 1 HMMPfam_DEAD HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZNF224 7767 genome.wustl.edu 36 19 49303508 49303508 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 19 49303508 49303508 G T SNP ZNF224 NM_013398 human genbank 54_36p 1 provisional missense c.1355 p.G452V 1 NULL HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors RELB 5971 genome.wustl.edu 36 19 50227756 50227756 + Silent SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 19 50227756 50227756 C G SNP RELB NM_006509 human genbank 54_36p 1 validated silent c.1116 p.V372 HMMPfam_TIG HMMPfam_TIG;superfamily_p53-like transcription factors;HMMPfam_RHD;superfamily_E set domains - no_errors GPR77 27202 genome.wustl.edu 36 19 52536795 52536795 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 19 52536795 52536795 G T SNP GPR77 NM_018485 human genbank 54_36p 1 provisional missense c.899 p.R300L NULL - - no_errors KLK12 43849 genome.wustl.edu 36 19 56225964 56225964 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 19 56225964 56225964 G A SNP KLK12 NM_145895 human genbank 54_36p -1 reviewed missense c.223 p.P75S 0.97 NULL - - no_errors CHST10 9486 genome.wustl.edu 36 2 100380953 100380953 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 2 100380953 100380953 G T SNP CHST10 NM_004854 human genbank 54_36p -1 validated nonsense c.276 p.C92* 1 NULL - - no_errors ZC3H6 376940 genome.wustl.edu 36 2 112784057 112784057 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 2 112784057 112784057 A G SNP ZC3H6 NM_198581 human genbank 54_36p 1 validated missense c.461 p.D154G 1 NULL - - no_errors LOC729141 729141 genome.wustl.edu 36 2 188800989 188800989 + RNA SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 2 188800989 188800989 C A SNP LOC729141 XR_015463 human genbank 54_36p 1 model rna NULL NULL 0.98 - - - pseudogene ANKRD44 91526 genome.wustl.edu 36 2 197578804 197578804 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 2 197578804 197578804 C T SNP ANKRD44 NM_153697 human genbank 54_36p -1 provisional missense c.2131 p.G711R 1 NULL - - no_errors TMEM131 23505 genome.wustl.edu 36 2 97797035 97797035 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 2 97797035 97797035 A G SNP TMEM131 NM_015348 human genbank 54_36p -1 validated missense c.1448 p.V483A 1 NULL - - no_errors PTPRT 11122 genome.wustl.edu 36 20 40853289 40853289 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 20 40853289 40853289 G A SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.446 p.A149V 1 NULL - - no_errors FAM65C 140876 genome.wustl.edu 36 20 48643093 48643093 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 20 48643093 48643093 G A SNP FAM65C NM_080829 human genbank 54_36p -1 predicted missense c.2248 p.P750S 0.05 NULL - - no_errors ISX 91464 genome.wustl.edu 36 22 33811509 33811509 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 22 33811509 33811509 G A SNP ISX NM_001008494 human genbank 54_36p 1 validated silent c.561 p.S187 NULL HMMPfam_Homeobox;superfamily_Homeodomain-like - no_errors TCF20 6942 genome.wustl.edu 36 22 40938076 40938076 + Silent SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 22 40938076 40938076 G C SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed silent c.3180 p.A1060 1 NULL - - no_errors RPN1 6184 genome.wustl.edu 36 3 129833537 129833538 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 - - - T - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 129833537 129833538 - T INS RPN1 NM_002950 human genbank 54_36p -1 reviewed frame_shift_ins c.787_786 p.R262fs 0.994:0.921 HMMPfam_Ribophorin_I Ribophorin_I;HMMPfam_Ribophorin_I;PRTase-like;superfamily_PRTase-like - no_errors SLC9A9 285195 genome.wustl.edu 36 3 144998431 144998431 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 144998431 144998431 G A SNP SLC9A9 NM_173653 human genbank 54_36p -1 validated missense c.383 p.T128I 1 NULL - - no_errors SLC33A1 9197 genome.wustl.edu 36 3 157042984 157042984 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 157042984 157042984 G A SNP SLC33A1 NM_004733 human genbank 54_36p -1 reviewed silent c.894 p.Y298 1 NULL superfamily_MFS general substrate transporter - no_errors KCNAB1 7881 genome.wustl.edu 36 3 157492603 157492603 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 157492603 157492603 G A SNP KCNAB1 NM_172159 human genbank 54_36p 1 reviewed missense c.213 p.M71I 1 NULL - - no_errors MLH1 4292 genome.wustl.edu 36 3 37028328 37028328 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 37028328 37028328 A T SNP MLH1 NM_000249 human genbank 54_36p 1 reviewed missense c.559 p.N187Y 1 NULL HATPase_c;HMMPfam_HATPase_c;ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase;superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase;DNA_mis_repair;HMMPfam_DNA_mis_repair;Ribosomal protein S5 domain 2-like;superfamily_Ribosomal protein S5 domain 2-like - no_errors LMCD1 29995 genome.wustl.edu 36 3 8584162 8584162 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 8584162 8584162 C G SNP LMCD1 NM_014583 human genbank 54_36p 1 reviewed missense c.976 p.L326V 1 NULL - - no_errors RAD18 56852 genome.wustl.edu 36 3 8898063 8898063 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 3 8898063 8898063 C G SNP RAD18 NM_020165 human genbank 54_36p -1 reviewed missense c.1466 p.R489T 0.95 NULL HMMPfam_zf-C3HC4;HMMPfam_SAP;superfamily_RING/U-box;superfamily_SAP domain - no_errors SYNPO2 171024 genome.wustl.edu 36 4 120172443 120172443 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 4 120172443 120172443 C T SNP SYNPO2 NM_133477 human genbank 54_36p 1 validated missense c.3065 p.S1022L 0.04 NULL HMMPfam_PDZ;superfamily_PDZ domain-like - no_errors FGB 2244 genome.wustl.edu 36 4 155711031 155711031 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 4 155711031 155711031 G T SNP FGB NM_005141 human genbank 54_36p 1 reviewed missense c.1255 p.D419Y 1 NULL - - no_errors ZNF608 57507 genome.wustl.edu 36 5 124011782 124011782 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 5 124011782 124011782 G C SNP ZNF608 NM_020747 human genbank 54_36p -1 validated missense c.2194 p.L732V 0.99 NULL superfamily_C2H2 and C2HC zinc fingers - no_errors KDM3B 51780 genome.wustl.edu 36 5 137755843 137755843 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 5 137755843 137755843 C A SNP JMJD1B NM_016604 human genbank 54_36p 1 validated missense c.2623 p.L875M 0.99 NULL HMMPfam_JmjC;superfamily_Clavaminate synthase-like;superfamily_Cysteine-rich domain - no_errors PCDH1 5097 genome.wustl.edu 36 5 141223846 141223846 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 5 141223846 141223846 T A SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed missense c.2234 p.D745V 1 NULL - - no_errors LPCAT1 79888 genome.wustl.edu 36 5 1516851 1516851 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 5 1516851 1516851 G A SNP LPCAT1 NM_024830 human genbank 54_36p -1 validated missense c.1520 p.A507V NULL - - no_errors NIPBL 25836 genome.wustl.edu 36 5 37062130 37062130 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 5 37062130 37062130 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.5752 p.T1918A 1 NULL superfamily_ARM repeat - no_errors SLC22A3 6581 genome.wustl.edu 36 6 160792073 160792073 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 6 160792073 160792073 C T SNP SLC22A3 NM_021977 human genbank 54_36p 1 reviewed missense c.1666 p.L556F 0.22 NULL HMMPfam_MFS_1;superfamily_MFS general substrate transporter - no_errors MICB 4277 genome.wustl.edu 36 6 31573958 31573959 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 6 31573958 31573959 GG TT DNP MICB NM_005931 human genbank 54_36p 1 reviewed missense c.9_10 p.G4C 0.001:0.000 NULL - - no_errors BACH2 60468 genome.wustl.edu 36 6 90698884 90698884 + Silent SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 6 90698884 90698884 A G SNP BACH2 NM_021813 human genbank 54_36p -1 validated silent c.2490 p.C830 1 NULL superfamily_A DNA-binding domain in eukaryotic transcription factors;HMMPfam_bZIP_1;HMMPfam_BTB;superfamily_POZ domain - no_errors MYL10 93408 genome.wustl.edu 36 7 101054248 101054248 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 7 101054248 101054248 C T SNP MYL10 NM_138403 human genbank 54_36p -1 validated missense c.95 p.R32Q 1 NULL - - no_errors EXOC4 60412 genome.wustl.edu 36 7 133252932 133252932 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 7 133252932 133252932 A G SNP EXOC4 NM_021807 human genbank 54_36p 1 reviewed missense c.1928 p.D643G 1 NULL HMMPfam_Sec8_exocyst - no_errors RBM33 155435 genome.wustl.edu 36 7 155230630 155230630 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 7 155230630 155230630 C G SNP RBM33 NM_053043 human genbank 54_36p 1 validated nonsense c.2552 p.S851* 0 NULL - - no_errors ZNF479 90827 genome.wustl.edu 36 7 57192019 57192019 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 7 57192019 57192019 T C SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.1045 p.R349G 0.97 NULL - - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110526919 110526919 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 8 110526919 110526919 G A SNP PKHD1L1 NM_177531 human genbank 54_36p 1 validated missense c.5645 p.C1882Y 0.91 HMMPfam_TIG HMMPfam_TIG;superfamily_Cupredoxins;superfamily_Pectin lyase-like;superfamily_Composite domain of metallo-dependent hydrolases;superfamily_E set domains;superfamily_Anthrax protective antigen - no_errors MATN2 4147 genome.wustl.edu 36 8 99109104 99109104 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 8 99109104 99109104 G T SNP MATN2 NM_002380 human genbank 54_36p 1 reviewed nonsense c.2227 p.E743* 1 HMMPfam_VWA HMMPfam_VWA;HMMPfam_EGF;superfamily_vWA-like;superfamily_EGF/Laminin - no_errors OR1Q1 158131 genome.wustl.edu 36 9 124417536 124417536 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 9 124417536 124417536 C T SNP OR1Q1 NM_012364 human genbank 54_36p 1 provisional silent c.699 p.G233 NULL - - no_errors STXBP1 6812 genome.wustl.edu 36 9 129492950 129492950 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 9 129492950 129492950 G A SNP STXBP1 NM_001032221 human genbank 54_36p 1 provisional missense c.1778 p.S593N 1 NULL - - no_errors PGM5 5239 genome.wustl.edu 36 9 70269854 70269854 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 9 70269854 70269854 G T SNP PGM5 NM_021965 human genbank 54_36p 1 validated missense c.1069 p.V357L 1 NULL - - no_errors C9orf135 138255 genome.wustl.edu 36 9 71625735 71625735 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd 9 71625735 71625735 G A SNP C9orf135 NM_001010940 human genbank 54_36p 1 validated silent c.120 p.K40 1 NULL - - no_errors H2BFM 286436 genome.wustl.edu 36 X 103181350 103181350 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd X 103181350 103181350 C T SNP H2BFM XM_001723437 human genbank 54_36p 1 model missense c.460 p.R154C 0 NULL - - no_errors PHEX 5251 genome.wustl.edu 36 X 22039573 22039573 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd X 22039573 22039573 C G SNP PHEX NM_000444 human genbank 54_36p 1 reviewed missense c.1147 p.Q383E 1 HMMPfam_Peptidase_M13_N "HMMPfam_Peptidase_M13;HMMPfam_Peptidase_M13_N;superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors SLC38A5 92745 genome.wustl.edu 36 X 48203063 48203063 + Silent SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5423db1a-5b59-4a5b-a676-00a54570b04a 8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd X 48203063 48203063 G A SNP SLC38A5 NM_033518 human genbank 54_36p -1 validated silent c.1212 p.I404 1 NULL - - no_errors