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 default_gene_name gene_name_source ALDH1A3 220 genome.wustl.edu 37 15 101438352 101438352 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 101438352 101438352 G A SNP ALDH1A3 ENST00000329841 human ensembl 70_37 +1 known missense c.845 p.G282E 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ARHGEF6 9459 genome.wustl.edu 37 X 135763034 135763034 + Silent SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d X 135763034 135763034 A G SNP ARHGEF6 ENST00000250617 human ensembl 70_37 -1 known silent c.1560 p.G520 0.025 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ARID1B 57492 genome.wustl.edu 37 6 157496045 157496046 + Frame_Shift_Ins INS - - A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 157496045 157496046 - A INS ARID1B ENST00000367148 human ensembl 70_37 +1 known frame_shift_ins c.3161_3162 p.M1055fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ASL 435 genome.wustl.edu 37 7 65553811 65553811 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 65553811 65553811 G A SNP ASL ENST00000304874 human ensembl 70_37 +1 known missense c.736 p.A246T 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ATP2C2 9914 genome.wustl.edu 37 16 84456298 84456298 + Nonsense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 84456298 84456298 G T SNP ATP2C2 ENST00000262429 human ensembl 70_37 +1 known nonsense c.838 p.E280* 0.997 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC BACE2 25825 genome.wustl.edu 37 21 42647759 42647760 + RNA INS - - A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 21 42647759 42647760 - A INS BACE2 ENST00000466122 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BACE2 HGNC BEND3 57673 genome.wustl.edu 37 6 107391662 107391662 + Nonsense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 107391662 107391662 C A SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known nonsense c.733 p.E245* 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC BIRC6 57448 genome.wustl.edu 37 2 32740651 32740651 + Missense_Mutation SNP C C G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 2 32740651 32740651 C G SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.11163 p.H3721Q 0.999 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC C16orf62 57020 genome.wustl.edu 37 16 19639018 19639018 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 19639018 19639018 C T SNP C16orf62 ENST00000438132 human ensembl 70_37 +1 known missense c.1541 p.A514V 1.000 NULL NULL - no_errors C16orf62 HGNC CCR6 1235 genome.wustl.edu 37 6 167550050 167550050 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 167550050 167550050 G T SNP CCR6 ENST00000341935 human ensembl 70_37 +1 known missense c.332 p.W111L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXC/IL8_rcpt - no_errors CCR6 HGNC CFHR5 81494 genome.wustl.edu 37 1 196971786 196971786 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 196971786 196971786 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1394 p.R465H 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC DISP2 85455 genome.wustl.edu 37 15 40661140 40661140 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 40661140 40661140 C T SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.2827 p.R943C 0.041 NULL pfscan_SSD - no_errors DISP2 HGNC DSCAM 1826 genome.wustl.edu 37 21 41447003 41447003 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 21 41447003 41447003 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.4849 p.R1617W 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103070089 103070089 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 103070089 103070089 G T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.7972 p.G2658C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC EBP 10682 genome.wustl.edu 37 X 48382321 48382321 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d X 48382321 48382321 G A SNP EBP ENST00000495186 human ensembl 70_37 +1 known silent c.162 p.A54 0.000 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000259966 0 genome.wustl.edu 37 16 32618889 32618889 + RNA SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 32618889 32618889 T C SNP ENSG00000259966 ENST00000562976 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000264072 0 genome.wustl.edu 37 18 10628565 10628565 + RNA SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 18 10628565 10628565 G T SNP ENSG00000264072 ENST00000579413 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-856M7.4 Clone_based_vega_gene ENSG00000267575 0 genome.wustl.edu 37 19 28296624 28296624 + RNA SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 19 28296624 28296624 G T SNP ENSG00000267575 ENST00000585917 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-459F4.3 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC FAM69C 125704 genome.wustl.edu 37 18 72114391 72114391 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 18 72114391 72114391 C T SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known missense c.326 p.R109H 0.997 NULL pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom - no_errors FAM69C HGNC FAT1 2195 genome.wustl.edu 37 4 187554882 187554882 + Frame_Shift_Del DEL G G - TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 4 187554882 187554882 G - DEL FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_del c.4279 p.L1427fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FBXW7 55294 genome.wustl.edu 37 4 153268138 153268138 + Nonsense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 4 153268138 153268138 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.670 p.R224* 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FGF14 2259 genome.wustl.edu 37 13 102375254 102375254 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 13 102375254 102375254 G A SNP FGF14 ENST00000376131 human ensembl 70_37 -1 known missense c.686 p.T229M 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF14 HGNC FMNL1 752 genome.wustl.edu 37 17 43315977 43315977 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 43315977 43315977 G A SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.941 p.R314Q 0.996 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FNDC1 84624 genome.wustl.edu 37 6 159621085 159621085 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 159621085 159621085 G A SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.362 p.R121H 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC GJD4 219770 genome.wustl.edu 37 10 35897248 35897248 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 10 35897248 35897248 C T SNP GJD4 ENST00000321660 human ensembl 70_37 +1 known silent c.807 p.R269 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC GRID1 2894 genome.wustl.edu 37 10 87484146 87484146 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 10 87484146 87484146 G A SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known silent c.1821 p.S607 0.803 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC GRM1 2911 genome.wustl.edu 37 6 146480687 146480687 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 146480687 146480687 G A SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known missense c.904 p.A302T 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC GUK1 2987 genome.wustl.edu 37 1 228335273 228335273 + RNA SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 228335273 228335273 G T SNP GUK1 ENST00000477206 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors GUK1 HGNC GZMA 3001 genome.wustl.edu 37 5 54403737 54403737 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 5 54403737 54403737 C T SNP GZMA ENST00000274306 human ensembl 70_37 +1 known missense c.331 p.R111C 0.022 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMA HGNC HNRNPA2B1 3181 genome.wustl.edu 37 7 26235495 26235495 + Silent SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 26235495 26235495 G T SNP HNRNPA2B1 ENST00000354667 human ensembl 70_37 -1 known silent c.729 p.G243 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC INSRR 3645 genome.wustl.edu 37 1 156811515 156811515 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 156811515 156811515 G A SNP INSRR ENST00000368195 human ensembl 70_37 -1 known missense c.3469 p.R1157C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC KCNA6 3742 genome.wustl.edu 37 12 4919592 4919592 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 12 4919592 4919592 G A SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known missense c.385 p.E129K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84884516 84884516 + Missense_Mutation SNP T T A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 84884516 84884516 T A SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.1955 p.E652V 1.000 NULL NULL - no_errors KIAA1009 HGNC KIFC2 90990 genome.wustl.edu 37 8 145694209 145694209 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 8 145694209 145694209 C T SNP KIFC2 ENST00000301332 human ensembl 70_37 +1 known missense c.1105 p.R369W 0.930 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC LRP1B 53353 genome.wustl.edu 37 2 141625763 141625763 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 2 141625763 141625763 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known silent c.4239 p.G1413 0.023 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC MAP1B 4131 genome.wustl.edu 37 5 71493117 71493117 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 5 71493117 71493117 G T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.3935 p.S1312I 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MBL1P 8512 genome.wustl.edu 37 10 81680522 81680522 + RNA SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 10 81680522 81680522 C T SNP MBL1P ENST00000480805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MBL1P HGNC METTL25 84190 genome.wustl.edu 37 12 82850511 82850511 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 12 82850511 82850511 G T SNP METTL25 ENST00000248306 human ensembl 70_37 +1 known missense c.1484 p.R495L 0.001 NULL NULL - no_errors METTL25 HGNC MGAM 8972 genome.wustl.edu 37 7 141794262 141794262 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 141794262 141794262 C T SNP MGAM ENST00000475668 human ensembl 70_37 +1 putative missense c.7274 p.T2425I 0.343 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MIR1266 100302202 genome.wustl.edu 37 15 52569361 52569361 + RNA SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 52569361 52569361 C A SNP MIR1266 ENST00000408125 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1266 HGNC MIR3689A 100500846 genome.wustl.edu 37 9 137741346 137741346 + RNA SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 9 137741346 137741346 A G SNP MIR3689A ENST00000578854 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3689A HGNC MUC5B 727897 genome.wustl.edu 37 11 1269975 1269975 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 1269975 1269975 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.11874 p.T3958 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYH1 4619 genome.wustl.edu 37 17 10398340 10398340 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 10398340 10398340 G T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.5374 p.Q1792K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC NAALAD2 10003 genome.wustl.edu 37 11 89891408 89891408 + Splice_Site SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 89891408 89891408 T C SNP NAALAD2 ENST00000534061 human ensembl 70_37 +1 known splice_site c.890+2 e7+2 1.000 - - - no_errors NAALAD2 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47037080 47037080 + Missense_Mutation SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 3 47037080 47037080 A G SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.1855 p.T619A 0.004 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NGB 58157 genome.wustl.edu 37 14 77734848 77734848 + Missense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 14 77734848 77734848 C A SNP NGB ENST00000298352 human ensembl 70_37 -1 known missense c.282 p.R94S 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin - no_errors NGB HGNC NUP155 9631 genome.wustl.edu 37 5 37307504 37307504 + Missense_Mutation SNP G G C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 5 37307504 37307504 G C SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.2798 p.S933C 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC OPHN1 4983 genome.wustl.edu 37 X 67272420 67272420 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d X 67272420 67272420 C T SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known silent c.2337 p.R779 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC PAX1 5075 genome.wustl.edu 37 20 21686349 21686349 + RNA SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 20 21686349 21686349 G A SNP PAX1 ENST00000460221 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PAX1 HGNC PIEZO2 63895 genome.wustl.edu 37 18 10704486 10704486 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 18 10704486 10704486 G A SNP PIEZO2 ENST00000580640 human ensembl 70_37 -1 novel missense c.5900 p.T1967M 1.000 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC PIM1 5292 genome.wustl.edu 37 6 37138993 37138993 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 37138993 37138993 G A SNP PIM1 ENST00000373509 human ensembl 70_37 +1 known silent c.333 p.E111 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM1 HGNC PPARD 5467 genome.wustl.edu 37 6 35393787 35393787 + Silent SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 35393787 35393787 G T SNP PPARD ENST00000311565 human ensembl 70_37 +1 known silent c.1257 p.R419 0.975 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt - no_errors PPARD HGNC RIT1 6016 genome.wustl.edu 37 1 155874117 155874117 + Silent SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 155874117 155874117 G T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known silent c.414 p.L138 0.006 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC RTN1 6252 genome.wustl.edu 37 14 60212965 60212965 + Missense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 14 60212965 60212965 C A SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.476 p.R159L 0.018 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC SBSN 374897 genome.wustl.edu 37 19 36018715 36018715 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 19 36018715 36018715 C T SNP SBSN ENST00000452271 human ensembl 70_37 -1 novel missense c.469 p.D157N 0.200 NULL NULL - no_errors SBSN HGNC SDK2 54549 genome.wustl.edu 37 17 71380101 71380101 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 71380101 71380101 C T SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.4619 p.R1540Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SLC44A1 23446 genome.wustl.edu 37 9 108110672 108110672 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 9 108110672 108110672 C T SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known missense c.440 p.S147F 0.994 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC SNAP91 9892 genome.wustl.edu 37 6 84290271 84290271 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 84290271 84290271 C T SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.2197 p.G733R 0.985 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC SPA17 53340 genome.wustl.edu 37 11 124551329 124551329 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 124551329 124551329 C T SNP SPA17 ENST00000227135 human ensembl 70_37 +1 putative missense c.199 p.R67C 1.000 pirsf_Sp17 pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC SSBP3 23648 genome.wustl.edu 37 1 54871665 54871665 + Missense_Mutation SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 54871665 54871665 T C SNP SSBP3 ENST00000371320 human ensembl 70_37 -1 known missense c.17 p.K6R 1.000 NULL pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC SYT6 148281 genome.wustl.edu 37 1 114640467 114640467 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 114640467 114640467 C T SNP SYT6 ENST00000369545 human ensembl 70_37 -1 known missense c.1397 p.R466H 0.998 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC TGFB2 7042 genome.wustl.edu 37 1 218520199 218520200 + Frame_Shift_Ins INS - - C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 218520199 218520200 - C INS TGFB2 ENST00000366929 human ensembl 70_37 +1 known frame_shift_ins c.156_157 p.E54fs 1.000:1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb2 pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC TRIM63 84676 genome.wustl.edu 37 1 26394009 26394009 + RNA SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 26394009 26394009 C T SNP TRIM63 ENST00000483052 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM63 HGNC TRPC3 7222 genome.wustl.edu 37 4 122872779 122872779 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 4 122872779 122872779 C T SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.57 p.P19 0.981 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC UBE3A 7337 genome.wustl.edu 37 15 25615855 25615855 + Missense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 25615855 25615855 C A SNP UBE3A ENST00000397954 human ensembl 70_37 -1 known missense c.1475 p.G492V 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC USP31 57478 genome.wustl.edu 37 16 23080124 23080124 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 23080124 23080124 G T SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.3302 p.P1101Q 0.270 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC YWHAE 7531 genome.wustl.edu 37 17 1264468 1264468 + Missense_Mutation SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 1264468 1264468 T C SNP YWHAE ENST00000264335 human ensembl 70_37 -1 known missense c.496 p.T166A 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ZBTB16 7704 genome.wustl.edu 37 11 113934923 113934923 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 113934923 113934923 G A SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.901 p.E301K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ZCWPW1 55063 genome.wustl.edu 37 7 100014776 100014776 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 100014776 100014776 G A SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.392 p.T131I 0.750 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ZDHHC12 84885 genome.wustl.edu 37 9 131483965 131483965 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 9 131483965 131483965 C T SNP ZDHHC12 ENST00000372667 human ensembl 70_37 -1 known silent c.489 p.Q163 1.000 pfam_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC12 HGNC ZNF23 7571 genome.wustl.edu 37 16 71483020 71483020 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 71483020 71483020 G A SNP ZNF23 ENST00000357254 human ensembl 70_37 -1 known missense c.908 p.T303I 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC