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 ADAMTSL4 54507 genome.wustl.edu 36 1 148794658 148794658 + Missense_Mutation SNP G G A Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 1 148794658 148794658 G A SNP ADAMTSL4 NM_019032 human genbank 54_36p 1 reviewed missense c.1364 p.R455H 0.937 NULL - - no_errors FLG2 388698 genome.wustl.edu 36 1 150593530 150593530 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 1 150593530 150593530 C A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.3356 p.G1119V 0.03 NULL - - no_errors ATP13A2 23400 genome.wustl.edu 36 1 17203855 17203855 + Silent SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 1 17203855 17203855 C A SNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed silent c.396 p.A132 0.07 NULL HMMPfam_Hydrolase;HMMPfam_E1-E2_ATPase;superfamily_HAD-like;superfamily_Calcium ATPase transduction domain A;superfamily_Metal cation-transporting ATPase ATP-binding domain N;superfamily_Calcium ATPase transmembrane domain M - no_errors CACNA1E 777 genome.wustl.edu 36 1 180034140 180034140 + Silent SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 1 180034140 180034140 G T SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed silent c.6360 p.P2120 0.32 NULL HMMPfam_Ion_trans;HMMPfam_Ca_chan_IQ;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors RAB7L1 8934 genome.wustl.edu 36 1 204007251 204007251 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 1 204007251 204007251 G A SNP RAB7L1 NM_003929 human genbank 54_36p -1 validated missense c.350 p.P117L 0.88 HMMPfam_Ras HMMPfam_Ras;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CENPF 1063 genome.wustl.edu 36 1 212862097 212862097 + Silent SNP A A G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 1 212862097 212862097 A G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed silent c.918 p.K306 1 NULL Spectrin repeat;superfamily_Spectrin repeat;BAG domain;superfamily_BAG domain - no_errors ADAM12 8038 genome.wustl.edu 36 10 127833840 127833840 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 10 127833840 127833840 C T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed silent c.285 p.T95 0.92 HMMPfam_Pep_M12B_propep "HMMPfam_Disintegrin;superfamily_Blood coagulation inhibitor (disintegrin);Reprolysin;HMMPfam_Reprolysin;Disintegrin;Blood coagulation inhibitor (disintegrin);Pep_M12B_propep;HMMPfam_Pep_M12B_propep;ADAM_CR;HMMPfam_ADAM_CR;EGF_2;HMMPfam_EGF_2;Metalloproteases (""zincins"") catalytic domain;superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors ITGA8 8516 genome.wustl.edu 36 10 15640161 15640161 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 10 15640161 15640161 C T SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.2684 p.R895Q 0.64 HMMPfam_Integrin_alpha2 HMMPfam_Integrin_alpha;HMMPfam_FG-GAP;HMMPfam_Integrin_alpha2;superfamily_Integrin domains;superfamily_Integrin alpha N-terminal domain - no_errors STAM 8027 genome.wustl.edu 36 10 17770087 17770087 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 10 17770087 17770087 A G SNP STAM NM_003473 human genbank 54_36p 1 reviewed missense c.353 p.E118G 1 HMMPfam_VHS HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_VHS;HMMPfam_UIM;superfamily_ENTH/VHS domain - no_errors PDE6C 5146 genome.wustl.edu 36 10 95375354 95375359 + In_Frame_Del DEL AGAAGT AGAAGT - Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 AGAAGT AGAAGT AGAAGT - AGAAGT AGAAGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 10 95375354 95375359 AGAAGT - DEL PDE6C NM_006204 human genbank 54_36p 1 validated in_frame_del c.897_902 p.VE301in_frame_del 1.000:1.000:1.000:1.000:0.936:0.921 HMMPfam_GAF HMMPfam_PDEase_I,HMMPfam_GAF,superfamily_HD-domain/PDEase-like,superfamily_GAF domain-like (deletion:cds_exon[95375322,95375396]) no_errors ANGPTL5 253935 genome.wustl.edu 36 11 101278578 101278578 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 11 101278578 101278578 G A SNP ANGPTL5 NM_178127 human genbank 54_36p -1 validated missense c.524 p.S175F 0.83 NULL - - no_errors OR4D11 219986 genome.wustl.edu 36 11 59028161 59028161 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 11 59028161 59028161 C T SNP OR4D11 NM_001004706 human genbank 54_36p 1 provisional silent c.537 p.C179 1 NULL - - no_errors P2RY2 5029 genome.wustl.edu 36 11 72623231 72623231 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 11 72623231 72623231 A T SNP P2RY2 NM_002564 human genbank 54_36p 1 reviewed missense c.379 p.I127F 1 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors SLC41A2 84102 genome.wustl.edu 36 12 103845916 103845916 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 12 103845916 103845916 T C SNP SLC41A2 NM_032148 human genbank 54_36p -1 validated missense c.271 p.T91A 1 NULL - - no_errors CD163L1 283316 genome.wustl.edu 36 12 7477386 7477386 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 12 7477386 7477386 C T SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.296 p.R99H HMMPfam_SRCR HMMPfam_SRCR;superfamily_SRCR-like - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76638566 76638566 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 13 76638566 76638566 C G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.6125 p.G2042A 1 NULL HMMPfam_RCC1;superfamily_Galactose-binding domain-like;superfamily_RCC1/BLIP-II;HMMPfam_PHR;superfamily_E set domains;superfamily_ARM repeat;superfamily_RING/U-box - no_errors ENSG00000184624 0 genome.wustl.edu 36 18 15261452 15261452 + Silent SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 18 15261452 15261452 G A SNP ENSG00000184624 ENST00000330020 human ensembl 54_36p 1 known silent c.1239 p.K413 0.75 NULL - - no_start_codon:no_stop_codon NDE1 54820 genome.wustl.edu 36 16 15698143 15698143 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 16 15698143 15698143 C A SNP NDE1 NM_017668 human genbank 54_36p 1 reviewed missense c.872 p.S291Y HMMPfam_NUDE_C HMMPfam_NUDE_C;superfamily_Spectrin repeat - no_errors ABCC1 4363 genome.wustl.edu 36 16 16116180 16116180 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 16 16116180 16116180 C T SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed missense c.3136 p.R1046C 1 HMMPfam_ABC_membrane HMMPfam_ABC_membrane;HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain - no_errors TP53 7157 genome.wustl.edu 36 17 7520036 7520036 + Splice_Site SNP C A A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 17 7520036 7520036 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.375+1 e3+1 1 - - - no_errors LAIR1 3903 genome.wustl.edu 36 19 59559791 59559791 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 19 59559791 59559791 C G SNP LAIR1 NM_002287 human genbank 54_36p -1 reviewed missense c.612 p.Q204H NULL superfamily_Immunoglobulin - no_errors TTN 7273 genome.wustl.edu 36 2 179180493 179180493 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 2 179180493 179180493 C T SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.45463 p.V15155I 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region DTD1 92675 genome.wustl.edu 36 20 18672892 18672892 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 20 18672892 18672892 C G SNP DTD1 NM_080820 human genbank 54_36p 1 reviewed missense c.626 p.P209R 1 NULL HMMPfam_Tyr_Deacylase;superfamily_DTD-like (Pfam 02580) - no_errors FAM83D 81610 genome.wustl.edu 36 20 37013649 37013649 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 20 37013649 37013649 G T SNP FAM83D NM_030919 human genbank 54_36p 1 validated missense c.920 p.G307V 1 NULL - - no_errors C20orf177 63939 genome.wustl.edu 36 20 57953306 57953306 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 20 57953306 57953306 C T SNP C20orf177 NM_022106 human genbank 54_36p 1 predicted missense c.913 p.R305C 0.28 NULL - - no_errors KCNE1 3753 genome.wustl.edu 36 21 34743717 34743717 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 21 34743717 34743717 C T SNP KCNE1 NM_000219 human genbank 54_36p -1 reviewed missense c.86 p.G29D 0.03 HMMPfam_ISK_Channel HMMPfam_ISK_Channel - no_errors C21orf57 54059 genome.wustl.edu 36 21 46535743 46535743 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 21 46535743 46535743 T C SNP C21orf57 NM_058181 human genbank 54_36p 1 validated missense c.278 p.L93P 1 NULL - - no_errors CSNK1E 1454 genome.wustl.edu 36 22 37026724 37026724 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 22 37026724 37026724 G T SNP CSNK1E NM_001894 human genbank 54_36p -1 reviewed missense c.516 p.N172K 1 HMMPfam_Pkinase Pkinase;HMMPfam_Pkinase;Protein kinase-like (PK-like);superfamily_Protein kinase-like (PK-like) - no_errors MORC1 27136 genome.wustl.edu 36 3 110256413 110256413 + Silent SNP G G A Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 110256413 110256413 G A SNP MORC1 NM_014429 human genbank 54_36p -1 reviewed silent c.1182 p.G394 0.997 NULL - - no_errors ADCY5 111 genome.wustl.edu 36 3 124492813 124492813 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 124492813 124492813 C T SNP ADCY5 NM_183357 human genbank 54_36p -1 validated missense c.3164 p.R1055H 1 NULL HMMPfam_Guanylate_cyc;HMMPfam_DUF1053;superfamily_Adenylyl and guanylyl cyclase catalytic domain - no_errors PCOLCE2 26577 genome.wustl.edu 36 3 144044538 144044538 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 144044538 144044538 G T SNP PCOLCE2 NM_013363 human genbank 54_36p -1 provisional missense c.491 p.S164Y 1 HMMPfam_CUB HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_NTR;superfamily_TIMP-like - no_errors MED12L 116931 genome.wustl.edu 36 3 152613672 152613672 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 152613672 152613672 G T SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.6091 p.V2031L 0.87 NULL - - no_errors ZNF167 55888 genome.wustl.edu 36 3 44587521 44587521 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 44587521 44587521 G T SNP ZNF167 NM_018651 human genbank 54_36p 1 validated nonsense c.1915 p.E639* 0.77 NULL - - no_errors ERC2 26059 genome.wustl.edu 36 3 56305322 56305322 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 56305322 56305322 A T SNP ERC2 NM_015576 human genbank 54_36p -1 validated nonsense c.839 p.L280* 1 NULL superfamily_Prefoldin - no_errors GRM7 2917 genome.wustl.edu 36 3 7595692 7595692 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 3 7595692 7595692 C T SNP GRM7 NM_181874 human genbank 54_36p 1 reviewed missense c.2099 p.T700I 1 HMMPfam_7tm_3 HMMPfam_7tm_3;HMMPfam_ANF_receptor;HMMPfam_NCD3G;superfamily_Periplasmic binding protein-like I;superfamily_TNF receptor-like - no_errors GABRA2 2555 genome.wustl.edu 36 4 46000233 46000233 + Splice_Site SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 4 46000233 46000233 C A SNP GABRA2 NM_000807 human genbank 54_36p -1 reviewed splice_site c.856+1 e7+1 1 - - - no_errors LOC644578 644578 genome.wustl.edu 36 4 63899106 63899106 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 4 63899106 63899106 G A SNP LOC644578 XM_927694 human genbank 54_36p 1 model missense c.844 p.E282K 0.98 NULL - - no_errors C4orf35 85438 genome.wustl.edu 36 4 71235833 71235833 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 4 71235833 71235833 C G SNP C4orf35 NM_033122 human genbank 54_36p 1 validated missense c.488 p.S163C NULL - - no_errors MEGF10 84466 genome.wustl.edu 36 5 126820869 126820869 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 5 126820869 126820869 G C SNP MEGF10 NM_032446 human genbank 54_36p 1 validated missense c.3383 p.S1128T 0.01 NULL - - no_errors PCDHGB6 56100 genome.wustl.edu 36 5 140769297 140769297 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 5 140769297 140769297 C T SNP PCDHGB6 NM_018926 human genbank 54_36p 1 reviewed silent c.1344 p.N448 0.07 NULL - - no_errors UGT3A2 167127 genome.wustl.edu 36 5 36071727 36071727 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 5 36071727 36071727 C T SNP UGT3A2 NM_174914 human genbank 54_36p -1 provisional missense c.1402 p.A468T 0.76 NULL - - no_errors NSUN2 54888 genome.wustl.edu 36 5 6653248 6653248 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 5 6653248 6653248 G A SNP NSUN2 NM_017755 human genbank 54_36p -1 validated missense c.2095 p.L699F 1 NULL - - no_errors TAS2R1 50834 genome.wustl.edu 36 5 9682459 9682459 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 5 9682459 9682459 G C SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed missense c.686 p.S229C 0.01 NULL - - no_errors CDKN1A 1026 genome.wustl.edu 36 6 36760275 36760275 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 6 36760275 36760275 G A SNP CDKN1A NM_000389 human genbank 54_36p 1 reviewed missense c.419 p.R140Q 0.94 NULL CDI;HMMPfam_CDI - no_errors LRFN2 57497 genome.wustl.edu 36 6 40468280 40468280 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 6 40468280 40468280 G C SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional missense c.1750 p.P584A 0.06 NULL HMMPfam_LRR_1;HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin;superfamily_L domain-like - no_errors C6orf142 90523 genome.wustl.edu 36 6 54230083 54230083 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 6 54230083 54230083 G A SNP C6orf142 NM_138569 human genbank 54_36p 1 validated missense c.1336 p.A446T 1 NULL - - no_errors MLL3 58508 genome.wustl.edu 36 7 151491555 151491555 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 7 151491555 151491555 T C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.10040 p.N3347S 0.63 NULL AT_hook;HMMPfam_AT_hook;HMG_box;HMMPfam_HMG_box;SET;HMMPfam_SET;PHD;HMMPfam_PHD;FYRN;HMMPfam_FYRN;FYRC;HMMPfam_FYRC - no_errors C7orf10 79783 genome.wustl.edu 36 7 40280676 40280676 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 7 40280676 40280676 C T SNP C7orf10 NM_024728 human genbank 54_36p 1 predicted missense c.526 p.L176F 1 NULL - - no_errors WBSCR17 64409 genome.wustl.edu 36 7 70772925 70772925 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 7 70772925 70772925 A C SNP WBSCR17 NM_022479 human genbank 54_36p 1 reviewed missense c.1299 p.E433D 0.99 NULL HMMPfam_Ricin_B_lectin;HMMPfam_Glycos_transf_2;superfamily_Ricin B-like lectins;superfamily_Nucleotide-diphospho-sugar transferases - no_errors SNTG1 54212 genome.wustl.edu 36 8 51867822 51867822 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 8 51867822 51867822 C A SNP SNTG1 NM_018967 human genbank 54_36p 1 reviewed nonsense c.1434 p.C478* 1 NULL HMMPfam_PDZ;superfamily_PDZ domain-like;superfamily_PH domain-like - no_errors SGK3 23678 genome.wustl.edu 36 8 67906081 67906081 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 8 67906081 67906081 G C SNP SGK3 NM_001033578 human genbank 54_36p 1 reviewed missense c.506 p.G169A 1 HMMPfam_Pkinase HMMPfam_Pkinase;HMMPfam_Pkinase_C;HMMPfam_PX;superfamily_Protein kinase-like (PK-like);superfamily_PX domain - no_errors ACTRT1 139741 genome.wustl.edu 36 X 127012919 127012919 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 X 127012919 127012919 C G SNP ACTRT1 NM_138289 human genbank 54_36p -1 provisional missense c.948 p.K316N 1 NULL - - no_errors GLRA2 2742 genome.wustl.edu 36 X 14537180 14537180 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 X 14537180 14537180 G A SNP GLRA2 NM_002063 human genbank 54_36p 1 validated missense c.862 p.A288T 1 HMMPfam_Neur_chan_memb HMMPfam_Neur_chan_memb;HMMPfam_Neur_chan_LBD;superfamily_Nicotinic receptor ligand binding domain-like;superfamily_Neurotransmitter-gated ion-channel transmembrane pore - no_errors POLA1 5422 genome.wustl.edu 36 X 24642655 24642655 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx acbc77ba-7cc0-4af2-9ab6-0c835ce33998 c73387e8-6cbe-4118-aee3-a27c0ac5b4a5 X 24642655 24642655 C T SNP POLA1 NM_016937 human genbank 54_36p 1 validated missense c.392 p.P131L 1 NULL HMMPfam_DNA_pol_B_exo;HMMPfam_DNA_pol_B;superfamily_Ribonuclease H-like;HMMPfam_zf-DNA_Pol;superfamily_DNA/RNA polymerases;superfamily_Zinc finger domain of DNA polymerase-alpha - no_errors