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 LOC644026 644026 genome.wustl.edu 36 X 404552 404552 + Silent SNP C T T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 X 404552 404552 C T SNP LOC644026 XM_001714036 human genbank 54_36p -1 model silent c.867 p.S289 0.667 NULL NULL - no_start_codon:pseudogene:no_stop_codon ARHGEF10 9639 genome.wustl.edu 36 8 1869417 1869417 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 8 1869417 1869417 G A SNP ARHGEF10 NM_014629 human genbank 54_36p +1 reviewed missense c.3124 p.V1042I 0.996 superfamily_WD40_like superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS - no_errors TJP3 27134 genome.wustl.edu 36 19 3691719 3691719 + Nonsense_Mutation SNP C T T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 19 3691719 3691719 C T SNP TJP3 NM_014428 human genbank 54_36p +1 provisional nonsense c.1900 p.Q634* 0.998 HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SLC25A41 284427 genome.wustl.edu 36 19 6378481 6378481 + Missense_Mutation SNP G T T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 19 6378481 6378481 G T SNP SLC25A41 NM_173637 human genbank 54_36p -1 validated missense c.656 p.T219K 0.982 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors TPI1 7167 genome.wustl.edu 36 12 6849488 6849488 + Silent SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 12 6849488 6849488 C T SNP TPI1 NM_000365 human genbank 54_36p +1 provisional silent c.558 p.H186 0.995 superfamily_Triosephosphate isomerase (TIM),HMMPfam_TIM superfamily_Triosephosphate isomerase (TIM),HMMPfam_TIM,PatternScan_TIM - no_errors TP53 7157 genome.wustl.edu 36 17 7514760 7514760 + Splice_Site SNP T T C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 17 7514760 7514760 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.994-2 e9-2 1.000 - - - no_errors LOC100132755 0 genome.wustl.edu 36 Y 10647825 10647825 + Missense_Mutation SNP T T C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 Y 10647825 10647825 T C SNP LOC100132755 XM_001713806 human genbank 54_36p +1 model missense c.20 p.I7T 1.000 NULL NULL - no_errors ENSG00000222088 0 genome.wustl.edu 36 Y 10647856 10647856 + RNA SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 Y 10647856 10647856 G A SNP ENSG00000222088 ENST00000410156 human ensembl 54_36p +1 novel rna NULL NULL 1.000 - - - no_errors GFOD1 54438 genome.wustl.edu 36 6 13473826 13473826 + Missense_Mutation SNP C C G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 6 13473826 13473826 C G SNP GFOD1 NM_018988 human genbank 54_36p -1 provisional missense c.301 p.A101P 1.000 superfamily_NAD(P)-binding Rossmann-fold domains HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_GFO_IDH_MocA_C - no_errors CLCNKB 1188 genome.wustl.edu 36 1 16250826 16250826 + Silent SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 16250826 16250826 C T SNP CLCNKB NM_000085 human genbank 54_36p +1 validated silent c.1332 p.L444 0.001 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116 - no_errors NHLRC1 378884 genome.wustl.edu 36 6 18230505 18230505 + Silent SNP A A G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 6 18230505 18230505 A G SNP NHLRC1 NM_198586 human genbank 54_36p -1 provisional silent c.312 p.H104 0.000 superfamily_SSF57850 superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF101898,HMMPfam_NHL - no_errors ENSG00000131885 0 genome.wustl.edu 36 17 18274712 18274712 + Silent SNP C T T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 17 18274712 18274712 C T SNP ENSG00000131885 ENST00000300992 human ensembl 54_36p +1 known silent c.1077 p.C359 0.995 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors uc001wcu.2 0 genome.wustl.edu 36 14 21546053 21546053 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 14 21546053 21546053 G A SNP uc001wcu.2 ENST00000390447 human ensembl 54_36p +1 known missense c.143 p.R48H 0.000 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region MLLT10 8028 genome.wustl.edu 36 10 22062940 22062940 + Missense_Mutation SNP A A G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 10 22062940 22062940 A G SNP MLLT10 NM_004641 human genbank 54_36p +1 validated missense c.2782 p.I928V 1.000 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors GAD2 2572 genome.wustl.edu 36 10 26599587 26599587 + Missense_Mutation SNP T T G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 10 26599587 26599587 T G SNP GAD2 NM_000818 human genbank 54_36p +1 reviewed missense c.988 p.F330V 1.000 superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC - no_errors WASF2 10163 genome.wustl.edu 36 1 27627973 27627973 + Silent SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 27627973 27627973 C T SNP WASF2 NM_006990 human genbank 54_36p -1 reviewed silent c.15 p.T5 0.998 NULL HMMPfam_WH2,HMMSmart_WH2 - no_errors LOC653073 653073 genome.wustl.edu 36 15 28172724 28172724 + Missense_Mutation SNP C C G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 15 28172724 28172724 C G SNP LOC653073 XM_001724382 human genbank 54_36p +1 model missense c.1626 p.D542E 0.003 NULL NULL - no_errors LOC728888 728888 genome.wustl.edu 36 16 29302249 29302249 + RNA SNP T T C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 16 29302249 29302249 T C SNP LOC728888 XR_015889 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors LY6G6F 259215 genome.wustl.edu 36 6 31786341 31786341 + Silent SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 6 31786341 31786341 C T SNP LY6G6F NM_001003693 human genbank 54_36p +1 provisional silent c.888 p.P296 0.933 NULL superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors BAI2 576 genome.wustl.edu 36 1 31980053 31980053 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 31980053 31980053 G A SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.1520 p.T507M 0.013 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors SYNGAP1 8831 genome.wustl.edu 36 6 33519278 33519278 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 6 33519278 33519278 G A SNP SYNGAP1 NM_006772 human genbank 54_36p +1 validated missense c.2926 p.G976R 0.993 NULL HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 - no_errors ARPP-21 10777 genome.wustl.edu 36 3 35760381 35760381 + Missense_Mutation SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 3 35760381 35760381 C T SNP ARPP-21 NM_016300 human genbank 54_36p +1 validated missense c.1952 p.T651M 0.978 NULL HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H - no_errors KRT31 3881 genome.wustl.edu 36 17 36807153 36807153 + Silent SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 17 36807153 36807153 G A SNP KRT31 NM_002277 human genbank 54_36p -1 reviewed silent c.165 p.S55 0.813 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors BTBD9 114781 genome.wustl.edu 36 6 38669972 38669972 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 6 38669972 38669972 G A SNP BTBD9 NM_001099272 human genbank 54_36p -1 validated missense c.295 p.R99W 1.000 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C - no_errors LRRK2 120892 genome.wustl.edu 36 12 39015100 39015100 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 12 39015100 39015100 G A SNP LRRK2 NM_198578 human genbank 54_36p +1 reviewed missense c.5822 p.R1941H 0.931 superfamily_Kinase_like,HMMPfam_Pkinase superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2 - no_errors CNTN1 1272 genome.wustl.edu 36 12 39696829 39696829 + Missense_Mutation SNP A A G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 12 39696829 39696829 A G SNP CNTN1 NM_001843 human genbank 54_36p +1 reviewed missense c.2263 p.K755E 1.000 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors LRPPRC 10128 genome.wustl.edu 36 2 43970390 43970390 + Missense_Mutation SNP A A C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 2 43970390 43970390 A C SNP LRPPRC NM_133259 human genbank 54_36p -1 reviewed missense c.4115 p.F1372C 1.000 NULL superfamily_SSF48452,HMMPfam_PPR - no_errors SALL4 57167 genome.wustl.edu 36 20 49841794 49841794 + Missense_Mutation SNP G G T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 20 49841794 49841794 G T SNP SALL4 NM_020436 human genbank 54_36p -1 reviewed missense c.635 p.P212Q 0.998 NULL HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors ZNF217 7764 genome.wustl.edu 36 20 51631423 51631423 + Silent SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 20 51631423 51631423 G A SNP ZNF217 NM_006526 human genbank 54_36p -1 validated silent c.1350 p.P450 0.005 NULL HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors PRKG1 5592 genome.wustl.edu 36 10 53710673 53710673 + Missense_Mutation SNP G G T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 10 53710673 53710673 G T SNP PRKG1 NM_006258 human genbank 54_36p +1 validated missense c.1522 p.D508Y 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133 - no_errors BMP7 655 genome.wustl.edu 36 20 55179566 55179566 + Silent SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 20 55179566 55179566 G A SNP BMP7 NM_001719 human genbank 54_36p -1 reviewed silent c.1152 p.H384 0.999 superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204 HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors DST 667 genome.wustl.edu 36 6 56588961 56588961 + Missense_Mutation SNP C C G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 6 56588961 56588961 C G SNP DST NM_001723 human genbank 54_36p -1 reviewed missense c.7263 p.Q2421H 0.990 superfamily_SSF75399 HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin - no_errors ZSCAN5B 342933 genome.wustl.edu 36 19 61393137 61393137 + Silent SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 19 61393137 61393137 G A SNP ZSCAN5B NM_001080456 human genbank 54_36p -1 validated silent c.1215 p.N405 0.025 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors GANAB 23193 genome.wustl.edu 36 11 62157258 62157258 + Missense_Mutation SNP T T C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 11 62157258 62157258 T C SNP GANAB NM_198335 human genbank 54_36p -1 validated missense c.758 p.K253R 1.000 NULL HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2 - no_errors LLPH 84298 genome.wustl.edu 36 12 64809087 64809087 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 12 64809087 64809087 G A SNP LLPH NM_032338 human genbank 54_36p -1 validated missense c.67 p.P23S 1.000 HMMPfam_Laps HMMPfam_Laps - no_errors ADAM21P 0 genome.wustl.edu 36 14 69782334 69782334 + RNA SNP C C A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 14 69782334 69782334 C A SNP ADAM21P NR_003951 human genbank 54_36p -1 validated rna NULL NULL 0.036 - - - pseudogene HMGCR 3156 genome.wustl.edu 36 5 74683151 74683151 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 5 74683151 74683151 G A SNP HMGCR NM_000859 human genbank 54_36p +1 reviewed missense c.1336 p.E446K 1.000 superfamily_Substrate-binding domain of HMG-CoA reductase superfamily_Multidrug efflux transporter AcrB transmembrane domain,superfamily_Substrate-binding domain of HMG-CoA reductase,HMMPfam_HMG-CoA_red,superfamily_NAD-binding domain of HMG-CoA reductase,PatternScan_HMG_COA_REDUCTASE_1,PatternScan_HMG_COA_REDUCTASE_2,PatternScan_HMG_COA_REDUCTASE_3 - no_errors PI15 51050 genome.wustl.edu 36 8 75900128 75900128 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 8 75900128 75900128 C A SNP PI15 NM_015886 human genbank 54_36p +1 reviewed nonsense c.89 p.S30* 0.998 NULL PatternScan_CRISP_1,superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP,PatternScan_CRISP_2 - no_errors LRRTM4 80059 genome.wustl.edu 36 2 77599809 77599809 + Missense_Mutation SNP G G T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 2 77599809 77599809 G T SNP LRRTM4 NM_024993 human genbank 54_36p -1 provisional missense c.694 p.R232S 1.000 superfamily_SSF52058 HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1 - no_errors WDFY3 23001 genome.wustl.edu 36 4 85961351 85961351 + Missense_Mutation SNP T T C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 4 85961351 85961351 T C SNP WDFY3 NM_014991 human genbank 54_36p -1 reviewed missense c.1501 p.R501G 1.000 superfamily_ARM repeat superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cyclin-like,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger - no_errors LOC344065 344065 genome.wustl.edu 36 2 95244640 95244640 + Missense_Mutation SNP C C G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 2 95244640 95244640 C G SNP LOC344065 XM_292895 human genbank 54_36p +1 model missense c.1131 p.I377M 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC344065 344065 genome.wustl.edu 36 2 95244967 95244967 + Silent SNP A A C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 2 95244967 95244967 A C SNP LOC344065 XM_292895 human genbank 54_36p +1 model silent c.1458 p.S486 0.060 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMSmart_SM00349,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors CYLC2 1539 genome.wustl.edu 36 9 104807087 104807087 + Missense_Mutation SNP G G T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 9 104807087 104807087 G T SNP CYLC2 NM_001340 human genbank 54_36p +1 reviewed missense c.353 p.G118V 0.038 NULL NULL - no_errors SYPL2 284612 genome.wustl.edu 36 1 109822189 109822189 + Missense_Mutation SNP G G C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 109822189 109822189 G C SNP SYPL2 ENST00000401021 human ensembl 54_36p +1 known missense c.683 p.S228T 0.000 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors TPCN1 53373 genome.wustl.edu 36 12 112195764 112195764 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 12 112195764 112195764 G A SNP TPCN1 NM_017901 human genbank 54_36p +1 validated missense c.850 p.D284N 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_LECTIN_LEGUME_BETA - no_errors CSMD3 114788 genome.wustl.edu 36 8 113881611 113881611 + Missense_Mutation SNP G G C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 8 113881611 113881611 G C SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.1928 p.T643R 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors KIAA1958 158405 genome.wustl.edu 36 9 114461603 114461603 + Silent SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 9 114461603 114461603 C T SNP KIAA1958 NM_133465 human genbank 54_36p +1 predicted silent c.1584 p.R528 1.000 NULL NULL - no_errors PCDHA13 56136 genome.wustl.edu 36 5 140242297 140242297 + Missense_Mutation SNP A A G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 5 140242297 140242297 A G SNP PCDHA13 NM_018904 human genbank 54_36p +1 reviewed missense c.260 p.N87S 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors MAGEA11 4110 genome.wustl.edu 36 X 148576843 148576843 + Missense_Mutation SNP T T G novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 X 148576843 148576843 T G SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed missense c.416 p.Q139P 0.001 NULL HMMPfam_MAGE - no_errors CHRNB2 1141 genome.wustl.edu 36 1 152808585 152808585 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 152808585 152808585 G A SNP CHRNB2 NM_000748 human genbank 54_36p +1 reviewed missense c.88 p.E30K 1.000 superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors HCN3 57657 genome.wustl.edu 36 1 153521022 153521022 + Silent SNP C C T novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 153521022 153521022 C T SNP HCN3 NM_020897 human genbank 54_36p +1 validated silent c.939 p.G313 1.000 superfamily_SSF81324,HMMPfam_Ion_trans PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding - no_errors LOC152118 152118 genome.wustl.edu 36 3 154685159 154685159 + Missense_Mutation SNP C C A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 3 154685159 154685159 C A SNP LOC152118 NM_001101337 human genbank 54_36p +1 inferred missense c.124 p.L42I 0.117 NULL NULL - no_errors TLL1 7092 genome.wustl.edu 36 4 167144013 167144013 + Missense_Mutation SNP G G C novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 4 167144013 167144013 G C SNP TLL1 NM_012464 human genbank 54_36p +1 reviewed missense c.653 p.R218P 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMPfam_EGF_CA,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF" - no_errors C1orf186 440712 genome.wustl.edu 36 1 204409841 204409841 + Missense_Mutation SNP G G A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 1 204409841 204409841 G A SNP C1orf186 NM_001007544 human genbank 54_36p -1 predicted missense c.44 p.A15V 0.006 NULL NULL - no_errors LOC100134324 0 genome.wustl.edu 36 X 562359 562362 + Frame_Shift_Del DEL GAAA GAAA - novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 GAAA GAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 X 562359 562362 GAAA - DEL LOC100134324 XM_001716092 human genbank 54_36p -1 model frame_shift_del c.593_590 p.L197fs 0.000:0.000:0.000:0.000 NULL NULL (deletion:cds_exon[562268,562433]) no_start_codon:pseudogene:no_stop_codon LOC100134324 0 genome.wustl.edu 36 X 562404 562405 + Frame_Shift_Ins INS - - AGAA novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 X 562404 562405 - AGAA INS LOC100134324 XM_001716092 human genbank 54_36p -1 model frame_shift_ins c.548_547 p.S183fs 0.000:0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon ENSG00000164845 0 genome.wustl.edu 36 8 8127728 8127729 + Frame_Shift_Del DEL TG TG - novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 8 8127728 8127729 TG - DEL ENSG00000164845 ENST00000338711 human ensembl 54_36p +1 known frame_shift_del c.162_163 p.V55fs 0.940:0.941 NULL HMMPfam_Methyltransf_16,superfamily_SSF53335 (deletion:cds_exon[8127726,8127806]) no_errors MYO7A 4647 genome.wustl.edu 36 11 76573419 76573440 + Frame_Shift_Del DEL GGAGGCGGGGACACCAGGGCCT GGAGGCGGGGACACCAGGGCCT - novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 GGAGGCGGGGACACCAGGGCCT GGAGGCGGGGACACCAGGGCCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 11 76573419 76573440 GGAGGCGGGGACACCAGGGCCT - DEL MYO7A ENST00000409893 human ensembl 54_36p +1 known frame_shift_del c.3514_3535 p.G1172fs 0.000:0.000:0.000:0.002:0.000:0.000:0.001:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.003:0.009:0.007:0.030:0.029:0.019 NULL superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ (deletion:cds_exon[76573281,76573442]) no_errors SCRIB 23513 genome.wustl.edu 36 8 144963053 144963054 + Frame_Shift_Ins INS - - A novel unknown TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 674bb2d4-609a-487b-adc8-30d3584ced80 24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7 8 144963053 144963054 - A INS SCRIB NM_182706 human genbank 54_36p -1 validated frame_shift_ins c.1829_1828 p.Y610fs 1.000:1.000 NULL superfamily_RNI-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors