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 ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val NT5C3AP1 0 genome.wustl.edu 37 4 118496711 118496711 + R SNP T T A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 4 118496711 118496711 T A SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 tier1 - - 57 0 0.00 31 16 34.04 51 0 0.00 46 52 53.06 SF3A3 0 genome.wustl.edu 37 1 38442606 38442606 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 1 38442606 38442606 C T SNP SF3A3 ENST00000373019 human ensembl 74_37 -1 known missense c.955 p.D319N 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 tier1 - - 65 0 0.00 41 31 43.06 116 0 0.00 45 45 49.45 MUC5B 0 genome.wustl.edu 37 11 1267347 1267347 + Silent SNP C C A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 11 1267347 1267347 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.9246 p.T3082 0.031 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 ENSG00000117983 tier1 - - 75 0 0.00 18 5 21.74 40 0 0.00 18 6 24.00 BRINP3 0 genome.wustl.edu 37 1 190067251 190067251 + Missense_Mutation SNP T T A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 1 190067251 190067251 T A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.2198 p.K733M 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 41 0 0.00 0 35 100.00 70 1 1.39 11 93 89.42 UGT3A1 0 genome.wustl.edu 37 5 35965701 35965701 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 5 35965701 35965701 G A SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.630 p.F210 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 tier1 - - 57 0 0.00 30 47 61.04 162 1 0.61 39 62 61.39 CCDC33 0 genome.wustl.edu 37 15 74564053 74564053 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 15 74564053 74564053 C T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.1165 p.R389W 0.812 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 rs201603982 - 71 0 0.00 51 17 25.00 171 0 0.00 119 21 15.00 ZBTB41 0 genome.wustl.edu 37 1 197127605 197127605 + R SNP T T C TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 1 197127605 197127605 T C SNP ZBTB41 ENST00000467322 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZBTB41 HGNC ENSG00000177888 tier1 rs115447450 GMAF=0.0005 32 0 0.00 9 58 86.57 89 0 0.00 10 154 93.90 DCC 0 genome.wustl.edu 37 18 50985606 50985606 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 18 50985606 50985606 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3397 p.R1133W 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 52 0 0.00 11 19 63.33 121 0 0.00 23 95 79.83 RSPH1 0 genome.wustl.edu 37 21 43905899 43905899 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 21 43905899 43905899 G A SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known silent c.381 p.T127 1.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 tier1 - - 53 0 0.00 33 5 13.16 194 0 0.00 95 38 28.57 KRT77 0 genome.wustl.edu 37 12 53086400 53086400 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 12 53086400 53086400 G A SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known missense c.1232 p.S411L 0.560 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 tier1 rs201690097 GMAF=0.0005 39 0 0.00 11 13 54.17 74 0 0.00 35 21 37.50 DH8 0 genome.wustl.edu 37 6 38816506 38816506 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 38816506 38816506 G A SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.4477 p.V1493I 0.001 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 29 0 0.00 46 43 44.33 139 0 0.00 105 54 33.96 LRRTM4 0 genome.wustl.edu 37 2 77746658 77746658 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 2 77746658 77746658 C T SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.340 p.E114K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 33 0 0.00 9 41 82.00 126 0 0.00 16 61 79.22 HS3ST6 0 genome.wustl.edu 37 16 1961876 1961876 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 16 1961876 1961876 G A SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known silent c.744 p.S248 0.988 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 tier1 - - 131 1 0.76 59 45 43.27 31 0 0.00 18 3 13.64 PKHD1 0 genome.wustl.edu 37 6 51619707 51619707 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 51619707 51619707 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.8672 p.R2891H 0.009 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 8 0 0.00 9 21 70.00 109 0 0.00 46 28 37.84 GPR50 0 genome.wustl.edu 37 X 150349083 150349083 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 X 150349083 150349083 G A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.1028 p.R343H 0.041 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 tier1 - - 20 0 0.00 0 33 100.00 28 0 0.00 12 28 70.00 LOC100996291 0 genome.wustl.edu 37 17 76267801 76267801 + R SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 17 76267801 76267801 C T SNP LOC100996291 ENST00000374945 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-219G17.4 Clone_based_vega_gene ENSG00000204277 tier1 - - 32 0 0.00 19 7 26.92 175 0 0.00 54 31 36.47 ENSG00000204398 0 genome.wustl.edu 37 13 112240744 112240744 + R SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 13 112240744 112240744 C T SNP ENSG00000204398 ENST00000607406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-65D24.2 Clone_based_vega_gene ENSG00000204398 tier1 - - 44 0 0.00 35 12 25.53 68 0 0.00 75 26 25.74 SCN10A 0 genome.wustl.edu 37 3 38798178 38798178 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 3 38798178 38798178 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.1277 p.R426Q 0.950 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 rs143033805 GMAF=0.0005 34 0 0.00 31 15 32.61 137 0 0.00 76 33 30.28 DUSP13 0 genome.wustl.edu 37 10 76854531 76854531 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 10 76854531 76854531 G A SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.887 p.T296M 0.897 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 tier1 rs150329504 - 49 0 0.00 11 14 56.00 58 0 0.00 31 30 49.18 AKAP6 0 genome.wustl.edu 37 14 33014696 33014696 + Silent SNP T T C TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 14 33014696 33014696 T C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.837 p.A279 0.977 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 18 0 0.00 17 9 34.62 164 0 0.00 90 34 27.42 ZNF823 0 genome.wustl.edu 37 19 11832715 11832715 + Missense_Mutation SNP T T C TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 19 11832715 11832715 T C SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known missense c.1634 p.H545R 0.952 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF823 HGNC ENSG00000197933 tier1 - - 82 0 0.00 27 41 60.29 60 0 0.00 14 10 41.67 LOC285556 0 genome.wustl.edu 37 4 100574097 100574097 + Missense_Mutation SNP T T A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 4 100574097 100574097 T A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.1709 p.N570I 0.002 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 60 0 0.00 27 26 49.06 54 0 0.00 59 54 47.79 ENSG00000244227 0 genome.wustl.edu 37 3 167621200 167621200 + R SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 3 167621200 167621200 A G SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 0.053 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 40 0 0.00 7 39 84.78 137 0 0.00 17 77 81.91 MARCH11 0 genome.wustl.edu 37 5 16067845 16067845 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 5 16067845 16067845 A G SNP MARCH11 ENST00000332432 human ensembl 74_37 -1 known missense c.944 p.V315A 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC ENSG00000183654 tier1 - - 29 0 0.00 32 15 31.91 155 0 0.00 65 32 32.99 LOC401286 0 genome.wustl.edu 37 6 168069993 168069993 + R SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 168069993 168069993 G A SNP LOC401286 ENST00000609107 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-351J23.2 Clone_based_vega_gene ENSG00000272549 tier1 - - 82 0 0.00 43 12 21.82 118 0 0.00 50 18 26.47 OTP 0 genome.wustl.edu 37 5 76932753 76932753 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 5 76932753 76932753 C T SNP OTP ENST00000306422 human ensembl 74_37 -1 known missense c.340 p.A114T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors OTP HGNC ENSG00000171540 tier1 - - 82 0 0.00 26 18 40.91 43 0 0.00 37 8 17.78 SLCO1B3 0 genome.wustl.edu 37 12 21028281 21028281 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 12 21028281 21028281 G A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known silent c.840 p.P280 0.016 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 74 0 0.00 51 17 25.00 66 0 0.00 18 5 21.74 EPAS1 0 genome.wustl.edu 37 2 46605046 46605046 + Silent SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 2 46605046 46605046 C T SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known silent c.1263 p.F421 0.731 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 - - 66 0 0.00 14 8 36.36 50 0 0.00 41 33 44.59 DDX18 0 genome.wustl.edu 37 2 118582579 118582579 + Nonsense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 2 118582579 118582579 C T SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known nonsense c.1270 p.R424* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 tier1 - - 30 0 0.00 23 4 14.81 41 0 0.00 25 3 10.71 KLHL1 0 genome.wustl.edu 37 13 70681572 70681572 + Missense_Mutation SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 13 70681572 70681572 G T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.260 p.S87Y 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 68 0 0.00 46 11 19.30 61 0 0.00 103 13 11.21 DACH2 0 genome.wustl.edu 37 X 85404005 85404005 + Missense_Mutation SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 X 85404005 85404005 G T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.381 p.Q127H 1.000 pfam_Transform_Ski,superfamily_D-bd_dom_put pfam_Transform_Ski,superfamily_D-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 67 0 0.00 30 19 38.78 64 0 0.00 19 13 40.62 CAC1H 0 genome.wustl.edu 37 16 1250294 1250294 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 16 1250294 1250294 C T SNP CAC1H ENST00000348261 human ensembl 74_37 +1 known missense c.842 p.T281M 0.341 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CAC1H HGNC ENSG00000196557 tier1 - - 122 0 0.00 65 23 26.14 182 0 0.00 86 23 21.10 ATG5 0 genome.wustl.edu 37 6 106696116 106696116 + Missense_Mutation SNP C C A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 106696116 106696116 C A SNP ATG5 ENST00000343245 human ensembl 74_37 -1 known missense c.482 p.R161I 1.000 pfam_Atg5 pfam_Atg5 - no_errors ATG5 HGNC ENSG00000057663 tier1 - - 93 0 0.00 110 71 39.23 167 0 0.00 78 77 49.68 ADARB2 0 genome.wustl.edu 37 10 1313200 1313200 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 10 1313200 1313200 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.1142 p.T381M 0.034 smart_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 45 0 0.00 16 21 56.76 85 0 0.00 68 37 35.24 PRKCG 0 genome.wustl.edu 37 19 54395787 54395787 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 19 54395787 54395787 G A SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known silent c.711 p.E237 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 tier1 - - 204 0 0.00 79 35 30.70 64 0 0.00 33 11 25.00 AP3D1 0 genome.wustl.edu 37 19 2129394 2129394 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 19 2129394 2129394 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.655 p.L219 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 rs199695826 - 78 0 0.00 22 19 46.34 117 0 0.00 58 30 33.71 HECW1 0 genome.wustl.edu 37 7 43351444 43351444 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 7 43351444 43351444 A G SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.110 p.E37G 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 27 0 0.00 17 14 45.16 130 0 0.00 45 33 42.31 BVES-AS1 0 genome.wustl.edu 37 6 105614546 105614546 + R SNP T T G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 105614546 105614546 T G SNP BVES-AS1 ENST00000369122 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors BVES-AS1 HGNC ENSG00000203808 tier1 - - 66 0 0.00 79 11 12.22 220 0 0.00 135 27 16.56 GSE1 0 genome.wustl.edu 37 16 85694912 85694912 + Nonsense_Mutation SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 16 85694912 85694912 G T SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known nonsense c.1801 p.E601* 0.947 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 - - 58 0 0.00 32 14 30.43 19 0 0.00 10 4 28.57 TP53 0 genome.wustl.edu 37 17 7574034 7574034 + Splice_Site SNP C C G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 17 7574034 7574034 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.994-1 e9-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 43 0 0.00 6 30 83.33 12 0 0.00 13 84 86.60 SLC30A8 0 genome.wustl.edu 37 8 118147610 118147610 + Missense_Mutation SNP C C A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 8 118147610 118147610 C A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.44 p.A15D 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 tier1 - - 26 0 0.00 72 13 15.29 223 0 0.00 110 22 16.67 CTTN 0 genome.wustl.edu 37 11 70281823 70281823 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 11 70281823 70281823 G A SNP CTTN ENST00000538675 human ensembl 74_37 +1 known missense c.914 p.C305Y 0.000 NULL pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CTTN HGNC ENSG00000085733 tier1 - - 105 0 0.00 56 33 37.08 82 0 0.00 70 37 34.58 ARHGAP23P1 0 genome.wustl.edu 37 16 33739328 33739328 + R SNP C C A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 16 33739328 33739328 C A SNP ARHGAP23P1 ENST00000567025 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors ARHGAP23P1 HGNC ENSG00000260781 tier1 - - 108 0 0.00 62 11 15.07 25 0 0.00 13 4 23.53 MTFMT 0 genome.wustl.edu 37 15 65295423 65295423 + Missense_Mutation SNP C C A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 15 65295423 65295423 C A SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known missense c.1147 p.A383S 1.000 NULL pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 tier1 - - 49 0 0.00 33 9 21.43 69 0 0.00 55 10 15.38 GRIK2 0 genome.wustl.edu 37 6 102250236 102250236 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 102250236 102250236 A G SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.1126 p.T376A 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 - - 39 0 0.00 38 34 47.22 84 0 0.00 74 43 36.75 TNFRSF21 0 genome.wustl.edu 37 6 47202418 47202418 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 6 47202418 47202418 A G SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.1726 p.F576L 1.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 tier1 - - 36 0 0.00 58 13 18.31 113 0 0.00 96 11 10.28 OR52R1 0 genome.wustl.edu 37 11 4825681 4825681 + Frame_Shift_Del DEL T T - TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 11 4825681 4825681 T - DEL OR52R1 ENST00000380382 human ensembl 74_37 -1 known frame_shift_del c.167 p.N56fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 tier1 37 0 0.00 41 7 14.58 111 0 0.00 50 38 43.18 KIAA0430 0 genome.wustl.edu 37 16 15696480 15696481 + Frame_Shift_Ins INS - - AGGAAAGAAGGAGGGAGGCAGAG TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 - - - AGGAAAGAAGGAGGGAGGCAGAG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 16 15696480 15696481 - AGGAAAGAAGGAGGGAGGCAGAG INS KIAA0430 ENST00000344181 human ensembl 74_37 -1 known frame_shift_ins c.3339_3338 p.P1114fs 0.000:0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 23 0 0.00 15 3 16.67 23 0 0.00 15 3 16.67 ITGA6 0 genome.wustl.edu 37 2 173349540 173349540 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 2 173349540 173349540 A G SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.1697 p.E566G 0.998 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 - - 31 0 0.00 4 13 76.47 67 0 0.00 4 33 84.62 KCNC4 0 genome.wustl.edu 37 1 110768794 110768794 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 1 110768794 110768794 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.1813 p.R605W 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 tier1 rs200184574 - 140 0 0.00 14 39 73.58 90 0 0.00 5 35 87.50 OR10Q1 0 genome.wustl.edu 37 11 57996225 57996225 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 11 57996225 57996225 C T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.123 p.M41I 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 tier1 - - 41 0 0.00 5 21 80.77 62 0 0.00 7 28 80.00 MTMR12 0 genome.wustl.edu 37 5 32268807 32268807 + Missense_Mutation SNP C C G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 5 32268807 32268807 C G SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known missense c.583 p.V195L 0.996 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 tier1 - - 40 0 0.00 47 5 9.62 178 0 0.00 106 8 7.02 MACF1 0 genome.wustl.edu 37 1 39752957 39752957 + Splice_Site SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 1 39752957 39752957 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known splice_site c.1524-1 e14-1 1.000 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 44 0 0.00 30 30 50.00 118 2 1.67 68 45 39.47 ARHGAP23 0 genome.wustl.edu 37 17 36638789 36638789 + Missense_Mutation SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 17 36638789 36638789 G T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.2777 p.C926F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 101 0 0.00 39 4 9.30 8 0 0.00 5 0 0.00 ENSG00000258973 0 genome.wustl.edu 37 14 24802126 24802126 + Missense_Mutation SNP C C T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 14 24802126 24802126 C T SNP ENSG00000258973 ENST00000555591 human ensembl 74_37 -1 putative missense c.427 p.G143R 0.999 NULL NULL - no_errors RP11-934B9.3 Clone_based_vega_gene ENSG00000258973 tier1 - - 35 0 0.00 29 4 12.12 19 0 0.00 5 0 0.00 ENSG00000266008 0 genome.wustl.edu 37 19 21880281 21880281 + R SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 19 21880281 21880281 G A SNP ENSG00000266008 ENST00000579236 human ensembl 74_37 +1 novel rna NULL NULL 0.163 - - - no_errors AC092364.4 Clone_based_ensembl_gene ENSG00000266008 tier1 - - 22 0 0.00 6 5 45.45 31 0 0.00 2 1 33.33 DUSP9 0 genome.wustl.edu 37 X 152915639 152915639 + Missense_Mutation SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 X 152915639 152915639 G T SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.1034 p.R345L 0.993 pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 - - 38 0 0.00 40 5 11.11 2 0 0.00 2 0 0.00 NBPF11 0 genome.wustl.edu 37 1 146055349 146055349 + Missense_Mutation SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 1 146055349 146055349 G A SNP NBPF11 ENST00000604938 human ensembl 74_37 -1 known missense c.274 p.L92F 0.060 NULL pfam_NBPF_dom,superfamily_Secretoglobin - no_errors NBPF11 HGNC ENSG00000152042 tier1 rs200002878 - 10 0 0.00 13 11 45.83 0 0 0.00 0 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147847 + R DEL GTGTGTGTGTGT GTGTGTGTGTGT - TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 GTGTGTGTGTGT GTGTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 2 50147836 50147847 GTGTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 POTEF 0 genome.wustl.edu 37 2 130832537 130832537 + Silent SNP G G A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49 eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5 2 130832537 130832537 G A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.2508 p.I836 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 63 0 0.00 30 4 11.76 0 0 0.00 0 0 0.00