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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ALS2CR11 0 genome.wustl.edu 37 2 202358909 202358909 + Frame_Shift_Del DEL T T - TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 2 202358909 202358909 T - DEL ALS2CR11 ENST00000439140 human ensembl 69_37n -1 novel frame_shift_del c.2155 p.S719fs 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 74 0 0.00 18 2 10.00 - - - C2 0 genome.wustl.edu 37 6 31896624 31896624 + Silent SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 6 31896624 31896624 G A SNP C2 ENST00000299367 human ensembl 69_37n +1 known silent c.372 p.R124 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP pfam_VWF_A,pfam_Peptidase_S1_S6,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C2 HGNC ENSG00000166278 170 0 0.00 110 112 50.45 - - - C9orf9 0 genome.wustl.edu 37 9 135763881 135763881 + Silent SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 9 135763881 135763881 G A SNP C9orf9 ENST00000356311 human ensembl 69_37n +1 known silent c.552 p.Q184 0.005 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 13 0 0.00 12 4 25.00 - - - CATSPERD 0 genome.wustl.edu 37 19 5744496 5744496 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 19 5744496 5744496 C T SNP CATSPERD ENST00000381624 human ensembl 69_37n +1 known missense c.632 p.A211V 0.012 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 383 0 0.00 161 166 50.76 - - - CCNB3 0 genome.wustl.edu 37 X 50037884 50037884 + Missense_Mutation SNP C C G TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c X 50037884 50037884 C G SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.226 p.Q76E 0.004 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 351 0 0.00 175 171 49.42 - - - CGA 0 genome.wustl.edu 37 6 87796031 87796031 + Silent SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 6 87796031 87796031 C T SNP CGA ENST00000369582 human ensembl 69_37n -1 known silent c.210 p.T70 0.987 pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone - no_errors CGA HGNC ENSG00000135346 264 0 0.00 165 97 37.02 - - - CHD8 0 genome.wustl.edu 37 14 21859709 21859709 + Silent SNP C C A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 14 21859709 21859709 C A SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known silent c.6978 p.L2326 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 86 0 0.00 90 18 16.67 - - - CLYBL 0 genome.wustl.edu 37 13 100518535 100518535 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 13 100518535 100518535 C T SNP CLYBL ENST00000339105 human ensembl 69_37n +1 known missense c.676 p.R226W 1.000 pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta - no_errors CLYBL HGNC ENSG00000125246 140 0 0.00 93 74 44.31 - - - CMTM5 0 genome.wustl.edu 37 14 23848056 23848056 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 14 23848056 23848056 G T SNP CMTM5 ENST00000339180 human ensembl 69_37n +1 known missense c.458 p.C153F 0.009 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 21 0 0.00 11 9 45.00 - - - DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 69_37n +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 43 0 0.00 22 42 62.69 - - - DMD 0 genome.wustl.edu 37 X 31152232 31152232 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c X 31152232 31152232 G T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.11001 p.F3667L 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 246 0 0.00 252 121 32.35 - - - DUPD1 0 genome.wustl.edu 37 10 76818229 76818229 + Nonsense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 10 76818229 76818229 G T SNP DUPD1 ENST00000338487 human ensembl 69_37n -1 known nonsense c.44 p.S15* 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUPD1 HGNC ENSG00000188716 143 0 0.00 134 33 19.76 - - - E2F1 0 genome.wustl.edu 37 20 32267640 32267640 + Missense_Mutation SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 20 32267640 32267640 G A SNP E2F1 ENST00000343380 human ensembl 69_37n -1 known missense c.493 p.R165W 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 139 0 0.00 257 42 14.00 - - - ERVFRD-1 0 genome.wustl.edu 37 6 11103979 11103979 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 6 11103979 11103979 G T SNP ERVFRD-1 ENST00000472091 human ensembl 69_37n -1 known missense c.1565 p.T522K 0.003 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 111 0 0.00 52 33 38.82 - - - FBXL3 0 genome.wustl.edu 37 13 77595895 77595895 + Missense_Mutation SNP C C G TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 13 77595895 77595895 C G SNP FBXL3 ENST00000355619 human ensembl 69_37n -1 known missense c.101 p.C34S 0.014 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like - no_errors FBXL3 HGNC ENSG00000005812 181 0 0.00 199 33 14.22 - - - FCGR3B 0 genome.wustl.edu 37 1 161600164 161600164 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 1 161600164 161600164 G T SNP FCGR3B ENST00000421702 human ensembl 69_37n -1 putative missense c.119 p.A40E 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FCGR3B HGNC ENSG00000162747 72 0 0.00 132 59 30.89 - - - HRNR 0 genome.wustl.edu 37 1 152188940 152188940 + Missense_Mutation SNP A A G TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 1 152188940 152188940 A G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.5165 p.L1722S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 17 0 0.00 70 31 30.69 - - - IFITM3 0 genome.wustl.edu 37 11 320790 320790 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 11 320790 320790 G T SNP IFITM3 ENST00000399808 human ensembl 69_37n -1 known missense c.24 p.F8L 0.000 NULL pfam_Interferon-induced_TM_protein - no_errors IFITM3 HGNC ENSG00000142089 123 0 0.00 111 33 22.92 - - - IGHV4-31 0 genome.wustl.edu 37 14 106805400 106805400 + Missense_Mutation SNP A A T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 14 106805400 106805400 A T SNP IGHV4-31 ENST00000438142 human ensembl 69_37n -1 known missense c.163 p.W55R 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-31 HGNC ENSG00000231475 251 0 0.00 239 176 42.41 - - - IRAK3 0 genome.wustl.edu 37 12 66641568 66641568 + Missense_Mutation SNP T T G TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 12 66641568 66641568 T G SNP IRAK3 ENST00000261233 human ensembl 69_37n +1 known missense c.1408 p.F470V 0.716 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 261 1 0.38 107 121 53.07 - - - KLHL38 0 genome.wustl.edu 37 8 124664638 124664638 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 8 124664638 124664638 C T SNP KLHL38 ENST00000325995 human ensembl 69_37n -1 known missense c.529 p.A177T 0.311 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 18 0 0.00 18 14 43.75 - - - MEGF8 0 genome.wustl.edu 37 19 42862378 42862378 + Silent SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 19 42862378 42862378 G A SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known silent c.5094 p.L1698 0.999 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 75 0 0.00 70 13 15.66 - - - NOVA2 0 genome.wustl.edu 37 19 46457123 46457123 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 19 46457123 46457123 C T SNP NOVA2 ENST00000263257 human ensembl 69_37n -1 known missense c.311 p.R104Q 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 374 1 0.27 210 272 56.31 - - - OCRL 0 genome.wustl.edu 37 X 128692644 128692644 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c X 128692644 128692644 G T SNP OCRL ENST00000371113 human ensembl 69_37n +1 known missense c.474 p.M158I 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 264 1 0.38 136 93 40.61 - - - OR5AR1 0 genome.wustl.edu 37 11 56431680 56431680 + Silent SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 11 56431680 56431680 C T SNP OR5AR1 ENST00000302969 human ensembl 69_37n +1 known silent c.519 p.I173 0.574 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 301 0 0.00 215 72 25.09 - - - OR5T2 0 genome.wustl.edu 37 11 56000198 56000198 + Missense_Mutation SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 11 56000198 56000198 G A SNP OR5T2 ENST00000313264 human ensembl 69_37n -1 known missense c.464 p.A155V 0.957 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5T2 HGNC ENSG00000181718 268 0 0.00 187 52 21.76 - - - PCDHGA7 0 genome.wustl.edu 37 5 140764680 140764680 + Silent SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 5 140764680 140764680 G A SNP PCDHGA7 ENST00000518325 human ensembl 69_37n +1 known silent c.2214 p.S738 0.173 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 74 0 0.00 52 48 47.52 - - - PGLYRP3 0 genome.wustl.edu 37 1 153270481 153270481 + Missense_Mutation SNP C C A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 1 153270481 153270481 C A SNP PGLYRP3 ENST00000290722 human ensembl 69_37n -1 known missense c.977 p.G326V 0.802 pfam_Amidase_domain,superfamily_Amidase_domain,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 100 0 0.00 198 32 13.91 - - - PGM5 0 genome.wustl.edu 37 9 70993224 70993224 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 9 70993224 70993224 G T SNP PGM5 ENST00000396396 human ensembl 69_37n +1 known missense c.371 p.C124F 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 182 0 0.00 169 30 15.08 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 147 0 0.00 68 72 51.06 - - - PPID 0 genome.wustl.edu 37 4 159644428 159644428 + Missense_Mutation SNP A A C TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 4 159644428 159644428 A C SNP PPID ENST00000307720 human ensembl 69_37n -1 known missense c.13 p.S5A 0.189 superfamily_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 154 1 0.65 139 58 29.44 - - - PRRX1 0 genome.wustl.edu 37 1 170695377 170695377 + Missense_Mutation SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 1 170695377 170695377 G A SNP PRRX1 ENST00000239461 human ensembl 69_37n +1 known missense c.434 p.R145Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 60 0 0.00 53 35 39.77 - - - RNF113A 0 genome.wustl.edu 37 X 119005097 119005097 + Missense_Mutation SNP C C A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c X 119005097 119005097 C A SNP RNF113A ENST00000371442 human ensembl 69_37n -1 known missense c.480 p.Q160H 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 216 0 0.00 228 36 13.64 - - - RP1 0 genome.wustl.edu 37 8 55533917 55533917 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 8 55533917 55533917 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.391 p.R131W 1.000 superfamily_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 15 0 0.00 10 14 58.33 - - - SF1 0 genome.wustl.edu 37 11 64534720 64534720 + Splice_Site SNP T T G TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 11 64534720 64534720 T G SNP SF1 ENST00000486867 human ensembl 69_37n -1 putative splice_site c.506-2 e4-2 1.000 - - - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region SF1 HGNC ENSG00000168066 145 0 0.00 121 51 29.65 - - - SLC12A9 0 genome.wustl.edu 37 7 100456724 100456724 + Silent SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 7 100456724 100456724 C T SNP SLC12A9 ENST00000354161 human ensembl 69_37n +1 known silent c.918 p.V306 0.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC12A9 HGNC ENSG00000146828 195 1 0.51 319 40 11.14 - - - SLC40A1 0 genome.wustl.edu 37 2 190428591 190428591 + Missense_Mutation SNP A A C TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 2 190428591 190428591 A C SNP SLC40A1 ENST00000261024 human ensembl 69_37n -1 known missense c.1121 p.L374R 0.978 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 102 0 0.00 67 51 42.86 - - - SLIT1 0 genome.wustl.edu 37 10 98816176 98816176 + Missense_Mutation SNP G G T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 10 98816176 98816176 G T SNP SLIT1 ENST00000266058 human ensembl 69_37n -1 known missense c.1203 p.F401L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 213 0 0.00 153 123 44.57 - - - SMC1A 0 genome.wustl.edu 37 X 53439174 53439174 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c X 53439174 53439174 C T SNP SMC1A ENST00000322213 human ensembl 69_37n -1 known missense c.884 p.R295Q 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 271 0 0.00 207 124 37.46 - - - UBA1 0 genome.wustl.edu 37 X 47065655 47065655 + Missense_Mutation SNP A A T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c X 47065655 47065655 A T SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known missense c.1750 p.M584L 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 59 0 0.00 33 34 50.75 - - - VPS13B 0 genome.wustl.edu 37 8 100883111 100883111 + Missense_Mutation SNP G G A TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 8 100883111 100883111 G A SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.11566 p.V3856I 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 115 0 0.00 83 46 35.66 - - - VPS28 0 genome.wustl.edu 37 8 145649475 145649475 + Missense_Mutation SNP C C T TCGA-E2-A154-01A-11D-A10Y-09 TCGA-E2-A154-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 336e39fb-d407-4ced-b7bb-e8ff5329abdb 2a64a2d9-2683-40fb-9e22-43cb3185321c 8 145649475 145649475 C T SNP VPS28 ENST00000377348 human ensembl 69_37n -1 known missense c.497 p.R166H 0.996 pfam_VPS28,pirsf_VPS28 pfam_VPS28,pirsf_VPS28 - no_errors VPS28 HGNC ENSG00000160948 29 0 0.00 35 30 46.15 - - -